Nephrology
Advances in genetic techniques now enable many important insights into kidney-related diseases. A genetic diagnosis can better classify disease, give information about disease pathogenesis, and suggest time-sensitive options for treatment. We have identified genetic variants associated with nephrological diseases in more than 300 different genes. We can support you in providing your patients with rapid and accurate genetic testing to give them a clear understanding of their condition.
Atypical hemolytic uremic syndrome (aHUS) panel
Our atypical hemolytic uremic syndrome panel contains genes for the molecular diagnosis of this syndrome.
| No. of genes: | 25 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
MLPA: CFH, CFHR1, CFHR2, CFHR3, CFHR5
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ADAMTS13 | 604134 | Thrombotic thrombocytopenic purpura, hereditary | AR |
| C3 | 120700 | Macular degeneration, age-related, 9 | - |
| C3 deficiency | AR | ||
| Hemolytic uremic syndrome, atypical, susceptibility to, 5 | AD | ||
| CD46 | 120920 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | AD, AR |
| CD59 | 107271 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy | AR |
| CFB | 138470 | ?Complement factor B deficiency | AR |
| Hemolytic uremic syndrome, atypical, susceptibility to, 4 | AD | ||
| Macular degeneration, age-related, 14, reduced risk of | DD | ||
| CFD | 134350 | Complement factor D deficiency | AR |
| CFH | 134370 | Basal laminar drusen | AD |
| Macular degeneration, age-related, 4 | - | ||
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | AD, AR | ||
| Complement factor H deficiency | AD, AR | ||
| CFHR1 | 134371 | Macular degeneration, age-related, reduced risk of | AD |
| Hemolytic uremic syndrome, atypical, susceptibility to | AD, AR | ||
| CFHR3 | 605336 | Macular degeneration, age-related, reduced risk of | AD |
| Hemolytic uremic syndrome, atypical, susceptibility to | AD, AR | ||
| CFHR5 | 608593 | Nephropathy due to CFHR5 deficiency | AD |
| CFI | 217030 | Complement factor I deficiency | AR |
| Macular degeneration, age-related, 13, susceptibility to | AD | ||
| Hemolytic uremic syndrome, atypical, susceptibility to, 3 | AD | ||
| CR1 | 120620 | [Blood group, Knops system] | - |
| Malaria, severe, resistance to | - | ||
| CR2 | 120650 | Immunodeficiency, common variable, 7 | AR |
| Systemic lupus erythematosus, susceptibility to, 9 | - | ||
| DGKE | - | Nephrotic syndrome, type 7 | AR |
| Hemolytic uremic syndrome, atypical, susceptibility to, 7 | AR | ||
| F12 | 610619 | Factor XII deficiency | AR |
| Angioedema, hereditary, type III | AD | ||
| G6PD | 305900 | Resistance to malaria due to G6PD deficiency | - |
| Hemolytic anemia, G6PD deficient (favism) | XLD | ||
| INF2 | 610982 | Glomerulosclerosis, focal segmental, 5 | - |
| Charcot-Marie-Tooth disease, dominant intermediate E | AD | ||
| MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type | AR |
| MMUT | 609058 | Methylmalonic aciduria, mut(0) type | AR |
| PIGA | 311770 | Paroxysmal nocturnal hemoglobinuria, somatic | - |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | XLR | ||
| Neurodevelopmental disorder with epilepsy and hemochromatosis | - | ||
| PLG | 173350 | Angioedema, hereditary, 4 | AD |
| Plasminogen deficiency, type I | AR | ||
| Dysplasminogenemia | AR | ||
| PRDX1 | 176763 | Methylmalonic aciduria and homocystinuria, cblC type, digenic | AR |
| THBD | 188040 | Thrombophilia due to thrombomodulin defect | - |
| Hemolytic uremic syndrome, atypical, susceptibility to, 6 | AD | ||
| VWF | 613160 | von Willebrand disease, types 2A, 2B, 2M, and 2N | AD, AR |
| von Willebrand disease, type 1 | AD | ||
| von Willebrand disease, type 3 | AR |
COMMON SYNDROMES AND DISORDERS COVERED
- Atypical hemolytic uremic syndrome
- Methylmalonic aciduria and homocystinuria
CentoNephro
Approximately 10 % of the population worldwide is affected by chronic kidney diseases. Advances in genetic techniques are providing insights into kidney disease diagnosis, pathogenesis, and therapy. CentoNephro offers a comprehensive tool to screen for the most prevalent hereditary kidney disorders, including polycystic kidney disease, Alport syndrome, renal tubular acidosis panel, focal glomerulonephrosis panel, and primary hyperoxaluria, among others. PKD1 analysis is not included in this panel. CentoNephro also covers the group of disorders causing cilia dysfunction, including Joubert Syndrome, Bardet-Biedl, COACH syndrome, primary ciliary dyskinesia, Meckel syndrome, skeletal dysplasia, situs inversus, and heterotaxy, among others
| No. of genes: | 504 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCB11 | 603201 | Cholestasis, benign recurrent intrahepatic, 2 | AR |
| Cholestasis, progressive familial intrahepatic 2 | AR | ||
| ABCB4 | 171060 | Gallbladder disease 1 | AD, AR |
| Cholestasis, progressive familial intrahepatic 3 | AR | ||
| Cholestasis, intrahepatic, of pregnancy, 3 | AD, AR | ||
| ABCC2 | 601107 | Dubin-Johnson syndrome | AR |
| ACE | 106180 | Microvascular complications of diabetes 3 | - |
| Stroke, hemorrhagic | - | ||
| Renal tubular dysgenesis | AR | ||
| ACP5 | 171640 | Spondyloenchondrodysplasia with immune dysregulation | AR |
| ACTG2 | 102545 | Visceral myopathy | AD |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | AD | ||
| ACTN4 | 604638 | Glomerulosclerosis, focal segmental, 1 | AD |
| ACVR2B | 602730 | Heterotaxy, visceral, 4, autosomal | - |
| AGPS | 603051 | Rhizomelic chondrodysplasia punctata, type 3 | AR |
| AGT | 106150 | Hypertension, essential, susceptibility to | MF |
| Renal tubular dysgenesis | AR | ||
| AGTR1 | 106165 | Hypertension, essential | MF |
| Renal tubular dysgenesis | AR | ||
| AGXT | 604285 | Hyperoxaluria, primary, type 1 | AR |
| AHI1 | 608894 | Joubert syndrome 3 | AR |
| AIPL1 | 604392 | Cone-rod dystrophy | AD, AR |
| Leber congenital amaurosis 4 | AD, AR | ||
| Retinitis pigmentosa, juvenile | AD, AR | ||
| AKR1D1 | 604741 | Bile acid synthesis defect, congenital, 2 | AR |
| ALDOB | 612724 | Fructose intolerance, hereditary | AR |
| ALG8 | - | Polycystic liver disease 3 with or without kidney cysts | AD |
| Congenital disorder of glycosylation, type Ih | AR | ||
| ALG9 | 606941 | Congenital disorder of glycosylation, type Il | AR |
| Gillessen-Kaesbach-Nishimura syndrome | AR | ||
| ALPL | 171760 | Hypophosphatasia, infantile | AR |
| Odontohypophosphatasia | AD, AR | ||
| Hypophosphatasia, childhood | AR | ||
| Hypophosphatasia, adult | AD, AR | ||
| AMER1 | 300647 | Osteopathia striata with cranial sclerosis | XLD |
| ANKH | 605145 | Chondrocalcinosis 2 | AD |
| Craniometaphyseal dysplasia | AD | ||
| ANKS6 | 615370 | Nephronophthisis 16 | AR |
| ANLN | 616027 | Focal segmental glomerulosclerosis 8 | AD |
| ANO5 | 608662 | Gnathodiaphyseal dysplasia | AD |
| Muscular dystrophy, limb-girdle, autosomal recessive 12 | AR | ||
| Miyoshi muscular dystrophy 3 | AR | ||
| ANOS1 | 300836 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | XLR |
| AP2S1 | 602242 | Hypocalciuric hypercalcemia, type III | AD |
| ARHGAP31 | 610911 | Adams-Oliver syndrome 1 | AD |
| ARHGDIA | 601925 | Nephrotic syndrome, type 8 | AR |
| ARL13B | 608922 | Joubert syndrome 8 | AR |
| ARL3 | 604695 | Retinitis pigmentosa 83 | AD |
| Joubert syndrome 35 | AR | ||
| ARL6 | 608845 | Retinitis pigmentosa 55 | AR |
| Bardet-Biedl syndrome 1, modifier of | AR, DR | ||
| Bardet-Biedl syndrome 3 | AR | ||
| ARMC5 | 615549 | ACTH-independent macronodular adrenal hyperplasia 2 | AD, SM |
| ARMC9 | 617612 | Joubert syndrome 30 | AR |
| ARSL | 300180 | Chondrodysplasia punctata, X-linked recessive | XLR |
| ATP6V0A4 | 605239 | Distal renal tubular acidosis 3, with or without sensorineural hearing loss | AR |
| ATP6V1B1 | 192132 | Distal renal tubular acidosis 2 with progressive sensorineural hearing loss | AR |
| ATP8B1 | 602397 | Cholestasis, progressive familial intrahepatic 1 | AR |
| Cholestasis, intrahepatic, of pregnancy, 1 | AD | ||
| Cholestasis, benign recurrent intrahepatic | AR | ||
| ATR | 601215 | ?Cutaneous telangiectasia and cancer syndrome, familial | AD |
| Seckel syndrome 1 | AR | ||
| AVPR2 | - | Nephrogenic syndrome of inappropriate antidiuresis | XLR |
| Diabetes insipidus, nephrogenic | XLR | ||
| B9D1 | 614144 | ?Meckel syndrome 9 | AR |
| Joubert syndrome 27 | AR | ||
| B9D2 | 611951 | ?Meckel syndrome 10 | AR |
| Joubert syndrome 34 | AR | ||
| BAAT | 602938 | Hypercholanemia, familial | AR |
| Bile acid conjugation defect 1 | AR | ||
| BBS1 | 209901 | Bardet-Biedl syndrome 1 | AR, DR |
| BBS10 | 610148 | Bardet-Biedl syndrome 10 | AR |
| BBS12 | 610683 | Bardet-Biedl syndrome 12 | AR |
| BBS2 | 606151 | Bardet-Biedl syndrome 2 | AR |
| Retinitis pigmentosa 74 | AR | ||
| BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
| BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
| BBS7 | 607590 | Bardet-Biedl syndrome 7 | AR |
| BBS9 | 607968 | Bardet-Biedl syndrome 9 | AR |
| BCS1L | 603647 | GRACILE syndrome | AR |
| Bjornstad syndrome | AR | ||
| Mitochondrial complex III deficiency, nuclear type 1 | AR | ||
| BICC1 | 614295 | Renal dysplasia, cystic, susceptibility to | AD |
| BMP1 | 112264 | Osteogenesis imperfecta, type XIII | AR |
| BMP4 | 112262 | Microphthalmia, syndromic 6 | AD |
| Orofacial cleft 11 | - | ||
| BMPR1B | 603248 | Brachydactyly, type A2 | AD |
| Acromesomelic dysplasia, Demirhan type | AR | ||
| Brachydactyly, type A1, D | AD | ||
| BNC2 | 608669 | Lower urinary tract obstruction, congenital | AD |
| BSND | 606412 | Bartter syndrome, type 4a | AR |
| Sensorineural deafness with mild renal dysfunction | AR | ||
| C2CD3 | 615944 | Orofaciodigital syndrome XIV | AR |
| CA2 | 611492 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | AR |
| CABP4 | 608965 | Cone-rod synaptic disorder, congenital nonprogressive | AR |
| CANT1 | 613165 | Desbuquois dysplasia 1 | AR |
| Epiphyseal dysplasia, multiple, 7 | AR | ||
| CASP10 | 601762 | Autoimmune lymphoproliferative syndrome, type II | AD |
| Gastric cancer, somatic | - | ||
| Lymphoma, non-Hodgkin, somatic | - | ||
| CASR | 601199 | Epilepsy idiopathic generalized, susceptibility to, 8 | - |
| Hypocalcemia, autosomal dominant, with Bartter syndrome | AD | ||
| Hypocalciuric hypercalcemia, type I | AD | ||
| Hyperparathyroidism, neonatal | AD, AR | ||
| Hypocalcemia, autosomal dominant | AD | ||
| CC2D2A | 612013 | Meckel syndrome 6 | AR |
| Retinitis pigmentosa 93 | AR | ||
| Joubert syndrome 9 | AR | ||
| COACH syndrome 2 | AR | ||
| CCDC103 | 614677 | Ciliary dyskinesia, primary, 17 | AR |
| CCDC28B | 610162 | Bardet-Biedl syndrome 1, modifier of | AR, DR |
| CCDC39 | 613798 | Ciliary dyskinesia, primary, 14 | AR |
| CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | AR |
| CCDC65 | 611088 | Ciliary dyskinesia, primary, 27 | AR |
| CCN6 | 603400 | Progressive pseudorheumatoid dysplasia | AR |
| CCNO | 607752 | Ciliary dyskinesia, primary, 29 | AR |
| CD2AP | 604241 | Glomerulosclerosis, focal segmental, 3 | - |
| CDKN1C | 600856 | IMAGE syndrome | AD |
| Beckwith-Wiedemann syndrome | AD | ||
| CENPF | 600236 | Stromme syndrome | AR |
| CENPJ | 609279 | ?Seckel syndrome 4 | AR |
| Microcephaly 6, primary, autosomal recessive | AR | ||
| CEP120 | 613446 | Joubert syndrome 31 | AR |
| Short-rib thoracic dysplasia 13 with or without polydactyly | AR | ||
| CEP152 | 613529 | Microcephaly 9, primary, autosomal recessive | AR |
| Seckel syndrome 5 | AR | ||
| CEP164 | 614848 | Nephronophthisis 15 | AR |
| CEP290 | 610142 | Leber congenital amaurosis 10 | - |
| Meckel syndrome 4 | AR | ||
| ?Bardet-Biedl syndrome 14 | AR | ||
| Senior-Loken syndrome 6 | AR | ||
| Joubert syndrome 5 | AR | ||
| CEP41 | 610523 | Joubert syndrome 15 | AR |
| CEP55 | 610000 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | AR |
| CEP83 | 615847 | Nephronophthisis 18 | AR |
| CFAP298 | 615494 | Ciliary dyskinesia, primary, 26 | AR |
| CFAP418 | 614477 | Retinitis pigmentosa 64 | AR |
| Cone-rod dystrophy 16 | AR | ||
| Bardet-Biedl syndrome 21 | AR | ||
| CFAP53 | 614759 | Heterotaxy, visceral, 6, autosomal recessive | AR |
| CFTR | 602421 | Congenital bilateral absence of vas deferens | AR |
| Pancreatitis, hereditary | AD | ||
| Bronchiectasis with or without elevated sweat chloride 1, modifier of | AD | ||
| Cystic fibrosis | AR | ||
| CHD7 | 608892 | CHARGE syndrome | AD |
| Hypogonadotropic hypogonadism 5 with or without anosmia | AD | ||
| CHRNA3 | 118503 | Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT | AR |
| Lung cancer susceptibility 2 | - | ||
| CHST3 | 603799 | Spondyloepiphyseal dysplasia with congenital joint dislocations | AR |
| CHSY1 | 608183 | Temtamy preaxial brachydactyly syndrome | AR |
| CILK1 | 612325 | Endocrine-cerebroosteodysplasia | AR |
| Epilepsy, juvenile myoclonic, susceptibility to, 10 | AD | ||
| CLCN5 | 300008 | Nephrolithiasis, type I | XLR |
| Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | XLR | ||
| Dent disease | XLR | ||
| Hypophosphatemic rickets | XLR | ||
| CLCNKA | 602024 | Bartter syndrome, type 4b, digenic | DR |
| CLCNKB | 602023 | Bartter syndrome, type 3 | AR |
| Bartter syndrome, type 4b, digenic | DR | ||
| CLDN16 | 603959 | Hypomagnesemia 3, renal | AR |
| CLDN19 | 610036 | Hypomagnesemia 5, renal, with ocular involvement | AR |
| COL10A1 | 120110 | Metaphyseal chondrodysplasia, Schmid type | AD |
| COL4A1 | 120130 | ?Retinal arteries, tortuosity of | AD |
| Hemorrhage, intracerebral, susceptibility to | - | ||
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | AD | ||
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | AD | ||
| Brain small vessel disease with or without ocular anomalies | AD | ||
| COL4A3 | 120070 | Alport syndrome 3, autosomal dominant | AD |
| Hematuria, benign familial | AD | ||
| Alport syndrome 2, autosomal recessive | AR | ||
| COL4A4 | 120131 | Alport syndrome 2, autosomal recessive | AR |
| Hematuria, familial benign | AD | ||
| COL4A5 | 303630 | Alport syndrome 1, X-linked | XLD |
| COL9A3 | 120270 | Epiphyseal dysplasia, multiple, 3, with or without myopathy | AD |
| Intervertebral disc disease, susceptibility to | - | ||
| Stickler syndrome, type VI | - | ||
| COMP | 600310 | Carpal tunnel syndrome 2 | AD |
| Epiphyseal dysplasia, multiple, 1 | AD | ||
| Pseudoachondroplasia | AD | ||
| COQ2 | 609825 | Coenzyme Q10 deficiency, primary, 1 | AR |
| Multiple system atrophy, susceptibility to | AD, AR | ||
| COQ6 | 614647 | Coenzyme Q10 deficiency, primary, 6 | AR |
| COQ8B | 615567 | Nephrotic syndrome, type 9 | AR |
| COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
| CPLANE1 | 614571 | Orofaciodigital syndrome VI | AR |
| Joubert syndrome 17 | AR | ||
| CRB1 | 604210 | Leber congenital amaurosis 8 | AR |
| Retinitis pigmentosa-12 | AR | ||
| Pigmented paravenous chorioretinal atrophy | AD | ||
| CRB2 | 609720 | Focal segmental glomerulosclerosis 9 | AR |
| Ventriculomegaly with cystic kidney disease | AR | ||
| CRELD1 | 607170 | Atrioventricular septal defect, partial, with heterotaxy syndrome | AD |
| Atrioventricular septal defect, susceptibility to, 2 | AD | ||
| CRTAP | 605497 | Osteogenesis imperfecta, type VII | AR |
| CRX | 602225 | Leber congenital amaurosis 7 | - |
| Cone-rod retinal dystrophy-2 | AD | ||
| CSPP1 | 611654 | Joubert syndrome 21 | AR |
| CTNS | 606272 | Cystinosis, late-onset juvenile or adolescent nephropathic | AR |
| Cystinosis, ocular nonnephropathic | AR | ||
| Cystinosis, nephropathic | AR | ||
| Cystinosis, atypical nephropathic | AR | ||
| CTU2 | 617057 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | AR |
| CUBN | 602997 | [Proteinuria, chronic benign] | AR |
| Imerslund-Grasbeck syndrome 1 | AR | ||
| CUL3 | 603136 | Pseudohypoaldosteronism, type IIE | AD |
| Neurodevelopmental disorder with or without autism or seizures | AD | ||
| CWC27 | 617170 | Retinitis pigmentosa with or without skeletal anomalies | AR |
| CYP7B1 | 603711 | Spastic paraplegia 5A, autosomal recessive | AR |
| Bile acid synthesis defect, congenital, 3 | AR | ||
| DCDC2 | 605755 | Nephronophthisis 19 | AR |
| ?Deafness, autosomal recessive 66 | AR | ||
| Sclerosing cholangitis, neonatal | AR | ||
| DDR2 | 191311 | Spondylometaepiphyseal dysplasia, short limb-hand type | AR |
| Warburg-Cinotti syndrome | AD | ||
| DDX59 | 615464 | Orofaciodigital syndrome V | AR |
| DGKE | - | Nephrotic syndrome, type 7 | AR |
| Hemolytic uremic syndrome, atypical, susceptibility to, 7 | AR | ||
| DGUOK | - | Portal hypertension, noncirrhotic | AR |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | AR | ||
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | AR | ||
| DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
| DICER1 | 606241 | Pleuropulmonary blastoma | AD |
| Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | AD | ||
| GLOW syndrome, somatic mosaic | - | ||
| Rhabdomyosarcoma, embryonal, 2 | - | ||
| DLL3 | 602768 | Spondylocostal dysostosis 1, autosomal recessive | AR |
| DMP1 | 600980 | Hypophosphatemic rickets, AR | AR |
| DNAAF1 | 613190 | Ciliary dyskinesia, primary, 13 | AR |
| DNAAF11 | 614930 | Ciliary dyskinesia, primary, 19 | AR |
| DNAAF2 | 612517 | Ciliary dyskinesia, primary, 10 | AR |
| DNAAF3 | 614566 | Ciliary dyskinesia, primary, 2 | AR |
| DNAAF4 | 608706 | Dyslexia, susceptibility to, 1 | AD |
| Ciliary dyskinesia, primary, 25 | AR | ||
| DNAAF5 | 614864 | Ciliary dyskinesia, primary, 18 | AR |
| DNAH11 | 603339 | Ciliary dyskinesia, primary, 7, with or without situs inversus | AR |
| DNAH5 | 603335 | Ciliary dyskinesia, primary, 3, with or without situs inversus | AR |
| DNAI1 | 604366 | Ciliary dyskinesia, primary, 1, with or without situs inversus | AR |
| DNAI2 | 605483 | Ciliary dyskinesia, primary, 9, with or without situs inversus | AR |
| DNAJB11 | 611341 | Polycystic kidney disease 6 with or without polycystic liver disease | AD |
| DNAL1 | 610062 | Ciliary dyskinesia, primary, 16 | AR |
| DRC1 | 615288 | Ciliary dyskinesia, primary, 21 | AR |
| DSTYK | 612666 | Spastic paraplegia 23 | AR |
| Congenital anomalies of kidney and urinary tract 1 | AD | ||
| DUSP6 | 602748 | Hypogonadotropic hypogonadism 19 with or without anosmia | AD |
| DYM | 607461 | Dyggve-Melchior-Clausen disease | AR |
| Smith-McCort dysplasia | AR | ||
| DYNC2H1 | 603297 | Short-rib thoracic dysplasia 3 with or without polydactyly | AR, DR |
| DYNC2I1 | 615462 | Short-rib thoracic dysplasia 8 with or without polydactyly | AR |
| DYNC2I2 | 613363 | Short-rib thoracic dysplasia 11 with or without polydactyly | AR |
| DYNC2LI1 | 617083 | Short-rib thoracic dysplasia 15 with polydactyly | AR |
| DZIP1L | 617570 | Polycystic kidney disease 5 | AR |
| EBP | 300205 | MEND syndrome | XLR |
| Chondrodysplasia punctata, X-linked dominant | XLD | ||
| EIF2AK3 | 604032 | Wolcott-Rallison syndrome | AR |
| EMP2 | 602334 | Nephrotic syndrome, type 10 | AR |
| ENPP1 | 173335 | Arterial calcification, generalized, of infancy, 1 | AR |
| Obesity, susceptibility to | AD, AR, MF | ||
| Hypophosphatemic rickets, autosomal recessive, 2 | AR | ||
| Cole disease | AD | ||
| Diabetes mellitus, non-insulin-dependent, susceptibility to | AD | ||
| ESCO2 | 609353 | Roberts syndrome | AR |
| Juberg-Hayward syndrome | AR | ||
| SC phocomelia syndrome | AR | ||
| EVC | 604831 | Ellis-van Creveld syndrome | AR |
| ?Weyers acrofacial dysostosis | AD | ||
| EVC2 | 607261 | Ellis-van Creveld syndrome | AR |
| Weyers acrofacial dysostosis | AD | ||
| EXT1 | 608177 | Chondrosarcoma | SM |
| Exostoses, multiple, type 1 | AD | ||
| EXT2 | 608210 | Exostoses, multiple, type 2 | AD |
| Seizures, scoliosis, and macrocephaly syndrome | AR | ||
| EYA1 | 601653 | Anterior segment anomalies with or without cataract | AD |
| Branchiootorenal syndrome 1, with or without cataracts | AD | ||
| ?Otofaciocervical syndrome | AD | ||
| Branchiootic syndrome 1 | AD | ||
| FAH | 613871 | Tyrosinemia, type I | AR |
| FAM20C | 611061 | Raine syndrome | AR |
| FAN1 | 613534 | Interstitial nephritis, karyomegalic | AR |
| FAS | 134637 | Autoimmune lymphoproliferative syndrome, type IA | AD |
| Autoimmune lymphoproliferative syndrome | AD | ||
| FASLG | 134638 | Autoimmune lymphoproliferative syndrome, type IB | AD |
| Lung cancer, susceptibility to | AD, SM | ||
| FAT4 | 612411 | Hennekam lymphangiectasia-lymphedema syndrome 2 | AR |
| Van Maldergem syndrome 2 | AR | ||
| FEZF1 | 613301 | Hypogonadotropic hypogonadism 22, with or without anosmia | AR |
| FGF17 | 603725 | Hypogonadotropic hypogonadism 20 with or without anosmia | AD |
| FGF23 | 605380 | Tumoral calcinosis, hyperphosphatemic, familial, 2 | AR |
| Hypophosphatemic rickets, autosomal dominant | AD | ||
| FGF8 | 600483 | Hypogonadotropic hypogonadism 6 with or without anosmia | AD |
| FGFR1 | 136350 | Osteoglophonic dysplasia | AD |
| Trigonocephaly 1 | AD | ||
| Pfeiffer syndrome | AD | ||
| Encephalocraniocutaneous lipomatosis, somatic mosaic | - | ||
| Hypogonadotropic hypogonadism 2 with or without anosmia | AD | ||
| Jackson-Weiss syndrome | AD | ||
| Hartsfield syndrome | AD | ||
| FGFR2 | 176943 | Crouzon syndrome | AD |
| Saethre-Chotzen syndrome | AD | ||
| Craniofacial-skeletal-dermatologic dysplasia | AD | ||
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | AD | ||
| Gastric cancer, somatic | - | ||
| LADD syndrome | AD | ||
| Beare-Stevenson cutis gyrata syndrome | AD | ||
| Scaphocephaly, maxillary retrusion, and mental retardation | - | ||
| Apert syndrome | AD | ||
| Bent bone dysplasia syndrome | AD | ||
| Pfeiffer syndrome | AD | ||
| Jackson-Weiss syndrome | AD | ||
| FKBP10 | 607063 | Osteogenesis imperfecta, type XI | AR |
| Bruck syndrome 1 | AR | ||
| FLNB | 603381 | Larsen syndrome | AD |
| Boomerang dysplasia | AD | ||
| Spondylocarpotarsal synostosis syndrome | AR | ||
| Atelosteogenesis, type III | AD | ||
| Atelosteogenesis, type I | AD | ||
| FLRT3 | 604808 | Hypogonadotropic hypogonadism 21 with anosmia | AD |
| FN1 | 135600 | Glomerulopathy with fibronectin deposits 2 | AD |
| Spondylometaphyseal dysplasia, corner fracture type | AD | ||
| FOXP1 | 605515 | Mental retardation with language impairment and with or without autistic features | AD |
| FRAS1 | 607830 | Fraser syndrome 1 | AR |
| FREM1 | 608944 | Manitoba oculotrichoanal syndrome | AR |
| Trigonocephaly 2 | AD | ||
| Bifid nose with or without anorectal and renal anomalies | AR | ||
| FREM2 | 608945 | Fraser syndrome 2 | AR |
| Cryptophthalmos, unilateral or bilateral, isolated | AR | ||
| FSHB | 136530 | Hypogonadotropic hypogonadism 24 without anosmia | AR |
| FXYD2 | 601814 | Hypomagnesemia 2, renal | AD |
| GANAB | 104160 | Polycystic kidney disease 3 | AD |
| GATA3 | 131320 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia | AD |
| GDF1 | 602880 | Congenital heart defects, multiple types, 6 | AD |
| Right atrial isomerism (Ivemark) | AR | ||
| GDF5 | 601146 | Du Pan syndrome | AR |
| Brachydactyly, type C | AD | ||
| Osteoarthritis-5 | - | ||
| Multiple synostoses syndrome 2 | AD | ||
| Chondrodysplasia, Grebe type | AR | ||
| Brachydactyly, type A1, C | AD, AR | ||
| ?Acromesomelic dysplasia, Hunter-Thompson type | AR | ||
| Brachydactyly, type A2 | AD | ||
| Symphalangism, proximal, 1B | AD | ||
| GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
| GHR | 600946 | Hypercholesterolemia, familial, modifier of | AD, AR |
| Laron dwarfism | AR | ||
| Growth hormone insensitivity, partial | AD | ||
| Increased responsiveness to growth hormone | AD | ||
| GLA | 300644 | Fabry disease | XL |
| Fabry disease, cardiac variant | XL | ||
| GLI2 | 165230 | Holoprosencephaly 9 | AD |
| Culler-Jones syndrome | AD | ||
| GLI3 | 165240 | Pallister-Hall syndrome | AD |
| Polydactyly, preaxial, type IV | AD | ||
| Polydactyly, postaxial, types A1 and B | AD | ||
| Greig cephalopolysyndactyly syndrome | AD | ||
| GLIS2 | 608539 | Nephronophthisis 7 | - |
| GLIS3 | 610192 | Diabetes mellitus, neonatal, with congenital hypothyroidism | AR |
| GNA11 | 139313 | Hypocalciuric hypercalcemia, type II | AD |
| Hypocalcemia, autosomal dominant 2 | AD | ||
| GNAS | 139320 | Pseudohypoparathyroidism Ic | AD |
| Osseous heteroplasia, progressive | AD | ||
| Pseudopseudohypoparathyroidism | AD | ||
| Pseudohypoparathyroidism Ia | AD | ||
| Pseudohypoparathyroidism Ib | AD | ||
| Pituitary adenoma 3, multiple types, somatic | - | ||
| ACTH-independent macronodular adrenal hyperplasia | SM | ||
| McCune-Albright syndrome, somatic, mosaic | - | ||
| GNPAT | 602744 | Rhizomelic chondrodysplasia punctata, type 2 | AR |
| GNRH1 | 152760 | ?Hypogonadotropic hypogonadism 12 with or without anosmia | AR |
| GNRHR | 138850 | Hypogonadotropic hypogonadism 7 without anosmia | AR |
| GPC3 | 300037 | Simpson-Golabi-Behmel syndrome, type 1 | XLR |
| Wilms tumor, somatic | - | ||
| GPC6 | 604404 | Omodysplasia 1 | AR |
| GREB1L | 617782 | Deafness, autosomal dominant 80 | AD |
| Renal hypodysplasia/aplasia 3 | AD | ||
| GRIP1 | 604597 | Fraser syndrome 3 | AR |
| GUCY2D | 600179 | Cone-rod dystrophy 6 | AD, AR |
| Leber congenital amaurosis 1 | AR | ||
| Night blindness, congenital stationary, type 1I | AR | ||
| ?Choroidal dystrophy, central areolar 1 | AD | ||
| HAAO | 604521 | Vertebral, cardiac, renal, and limb defects syndrome 1 | AR |
| HAMP | 606464 | Hemochromatosis, type 2B | AR |
| HESX1 | 601802 | Septooptic dysplasia | AD, AR |
| Pituitary hormone deficiency, combined, 5 | AD, AR | ||
| Growth hormone deficiency with pituitary anomalies | AD, AR | ||
| HEXA | 606869 | Tay-Sachs disease | AR |
| [Hex A pseudodeficiency] | AR | ||
| GM2-gangliosidosis, several forms | AR | ||
| HFE | 613609 | Porphyria variegata, susceptibility to | AD |
| Alzheimer disease, susceptibility to | AD | ||
| Hemochromatosis | AR | ||
| [Transferrin serum level QTL2] | - | ||
| Porphyria cutanea tarda, susceptibility to | AD, AR | ||
| Microvascular complications of diabetes 7 | - | ||
| HNF1B | 189907 | Renal cysts and diabetes syndrome | AD |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Renal cell carcinoma | - | ||
| HNF4A | 600281 | Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | AD |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| MODY, type I | AD | ||
| HOXA13 | 142959 | ?Guttmacher syndrome | AD |
| Hand-foot-uterus syndrome | AD | ||
| HOXD13 | 142989 | Syndactyly, type V | AD |
| ?Brachydactyly-syndactyly syndrome | - | ||
| Brachydactyly, type D | AD | ||
| Synpolydactyly 1 | AD | ||
| Brachydactyly, type E | AD | ||
| HPSE2 | 613469 | Urofacial syndrome 1 | AR |
| HS6ST1 | 604846 | Hypogonadotropic hypogonadism 15 with or without anosmia | AD |
| HSD11B2 | 614232 | Apparent mineralocorticoid excess | AR |
| HSD3B7 | 607764 | Bile acid synthesis defect, congenital, 1 | AR |
| HSPG2 | 142461 | Schwartz-Jampel syndrome, type 1 | AR |
| Dyssegmental dysplasia, Silverman-Handmaker type | AR | ||
| HYDIN | 610812 | Ciliary dyskinesia, primary, 5 | AR |
| HYLS1 | 610693 | Hydrolethalus syndrome | AR |
| IFITM5 | 614757 | Osteogenesis imperfecta, type V | AD |
| IFT122 | 606045 | Cranioectodermal dysplasia 1 | AR |
| IFT140 | 614620 | Retinitis pigmentosa 80 | AR |
| Short-rib thoracic dysplasia 9 with or without polydactyly | AR | ||
| IFT172 | 607386 | Retinitis pigmentosa 71 | AR |
| Bardet-Biedl syndrome 20 | AR | ||
| Short-rib thoracic dysplasia 10 with or without polydactyly | AR | ||
| IFT27 | 615870 | ?Bardet-Biedl syndrome 19 | AR |
| IFT43 | 614068 | ?Cranioectodermal dysplasia 3 | AR |
| Short-rib thoracic dysplasia 18 with polydactyly | AR | ||
| ?Retinitis pigmentosa 81 | AR | ||
| IFT80 | 611177 | Short-rib thoracic dysplasia 2 with or without polydactyly | AR |
| IFT81 | 605489 | Short-rib thoracic dysplasia 19 with or without polydactyly | AR |
| IHH | 600726 | Brachydactyly, type A1 | AD |
| Acrocapitofemoral dysplasia | AR | ||
| IL17RD | 606807 | Hypogonadotropic hypogonadism 18 with or without anosmia | AD, AR, DD |
| IMPDH1 | 146690 | Leber congenital amaurosis 11 | AD |
| Retinitis pigmentosa 10 | AD | ||
| INF2 | 610982 | Glomerulosclerosis, focal segmental, 5 | - |
| Charcot-Marie-Tooth disease, dominant intermediate E | AD | ||
| INPP5E | 613037 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
| Joubert syndrome 1 | AR | ||
| INPPL1 | 600829 | Opsismodysplasia | AR |
| INVS | 243305 | Nephronophthisis 2, infantile | AR |
| IQCB1 | 609237 | Senior-Loken syndrome 5 | AR |
| ITGA3 | 605025 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | AR |
| ITGA8 | 604063 | Renal hypodysplasia/aplasia 1 | AR |
| JAG1 | 601920 | Alagille syndrome 1 | AD |
| Charcot-Marie-Tooth disease, axonal, type 2HH | AD | ||
| ?Deafness, congenital heart defects, and posterior embryotoxon | AD | ||
| Tetralogy of Fallot | AD | ||
| KANK2 | 614610 | Nephrotic syndrome, type 16 | AR |
| Palmoplantar keratoderma and woolly hair | AR | ||
| KCNJ1 | 600359 | Bartter syndrome, type 2 | AR |
| KCNJ10 | 602208 | Enlarged vestibular aqueduct, digenic | AR |
| SESAME syndrome | AR | ||
| KCNJ13 | 603208 | Snowflake vitreoretinal degeneration | AD |
| Leber congenital amaurosis 16 | AR | ||
| KCNJ5 | 600734 | Hyperaldosteronism, familial, type III | AD |
| Long QT syndrome 13 | AD | ||
| KDM6A | 300128 | Kabuki syndrome 2 | XLD |
| KIAA0586 | 610178 | Joubert syndrome 23 | AR |
| Short-rib thoracic dysplasia 14 with polydactyly | AR | ||
| KIF14 | 611279 | ?Meckel syndrome 12 | AR |
| Microcephaly 20, primary, autosomal recessive | AR | ||
| KIF22 | 603213 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | AD |
| KIF7 | 611254 | Joubert syndrome 12 | AR |
| ?Hydrolethalus syndrome 2 | AR | ||
| ?Al-Gazali-Bakalinova syndrome | AR | ||
| Acrocallosal syndrome | AR | ||
| KISS1 | 603286 | ?Hypogonadotropic hypogonadism 13 with or without anosmia | AR |
| KISS1R | 604161 | ?Precocious puberty, central, 1 | AD |
| Hypogonadotropic hypogonadism 8 with or without anosmia | AR | ||
| KLHL3 | 605775 | Pseudohypoaldosteronism, type IID | AD, AR |
| KMT2D | 602113 | Kabuki syndrome 1 | AD |
| KYNU | 605197 | ?Hydroxykynureninuria | AR |
| Vertebral, cardiac, renal, and limb defects syndrome 2 | AR | ||
| LAGE3 | 300060 | Galloway-Mowat syndrome 2, X-linked | XLR |
| LAMB2 | 150325 | Nephrotic syndrome, type 5, with or without ocular abnormalities | - |
| Pierson syndrome | AR | ||
| LBR | 600024 | ?Reynolds syndrome | AD |
| Greenberg skeletal dysplasia | AR | ||
| Pelger-Huet anomaly | AD | ||
| Pelger-Huet anomaly with mild skeletal anomalies | - | ||
| LCA5 | 611408 | Leber congenital amaurosis 5 | AR |
| LCAT | 606967 | Norum disease | AR |
| Fish-eye disease | AR | ||
| LCT | 603202 | Lactase deficiency, congenital | AR |
| LEP | 164160 | Obesity, morbid, due to leptin deficiency | AR |
| LEPR | 601007 | Obesity, morbid, due to leptin receptor deficiency | AR |
| LHB | 152780 | Hypogonadotropic hypogonadism 23 with or without anosmia | AR |
| LHX3 | 600577 | Pituitary hormone deficiency, combined, 3 | AR |
| LHX4 | 602146 | Pituitary hormone deficiency, combined, 4 | AD |
| LIFR | 151443 | Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome | AR |
| LMF1 | 611761 | Lipase deficiency, combined | AR |
| LMX1B | 602575 | Nail-patella syndrome | AD |
| Focal segmental glomerulosclerosis 10 | AD | ||
| LRAT | 604863 | Leber congenital amaurosis 14 | AR |
| Retinal dystrophy, early-onset severe | AR | ||
| Retinitis pigmentosa, juvenile | AR | ||
| LRIG2 | 608869 | Urofacial syndrome 2 | AR |
| LRP4 | 604270 | ?Myasthenic syndrome, congenital, 17 | AR |
| Cenani-Lenz syndactyly syndrome | AR | ||
| Sclerosteosis 2 | AD, AR | ||
| LRP5 | 603506 | van Buchem disease, type 2 | - |
| Osteosclerosis | AD | ||
| Osteoporosis | AD | ||
| [Bone mineral density variability 1] | AD | ||
| Osteopetrosis, autosomal dominant 1 | AD | ||
| Polycystic liver disease 4 with or without kidney cysts | AD | ||
| Osteoporosis-pseudoglioma syndrome | AR | ||
| Hyperostosis, endosteal | AD | ||
| Exudative vitreoretinopathy 4 | AD, AR | ||
| LZTFL1 | 606568 | Bardet-Biedl syndrome 17 | AR |
| MAFB | 608968 | Duane retraction syndrome 3 | AD |
| Multicentric carpotarsal osteolysis syndrome | AD | ||
| MAGI2 | 606382 | Nephrotic syndrome, type 15 | AR |
| MAPKBP1 | 616786 | Nephronophthisis 20 | AR |
| MATN3 | 602109 | ?Spondyloepimetaphyseal dysplasia, Borochowitz Cormier-Daire type | AR |
| Epiphyseal dysplasia, multiple, 5 | AD | ||
| Osteoarthritis susceptibility 2 | AD | ||
| MCEE | 608419 | Methylmalonyl-CoA epimerase deficiency | AR |
| MERTK | 604705 | Retinitis pigmentosa 38 | AR |
| MESP2 | 605195 | Spondylocostal dysostosis 2, autosomal recessive | AR |
| MGP | 154870 | Keutel syndrome | AR |
| MKKS | 604896 | McKusick-Kaufman syndrome | AR |
| Bardet-Biedl syndrome 6 | AR | ||
| MKS1 | 609883 | Bardet-Biedl syndrome 13 | AR |
| Joubert syndrome 28 | AR | ||
| Meckel syndrome 1 | AR | ||
| MMAA | 607481 | Methylmalonic aciduria, vitamin B12-responsive | AR |
| MMAB | 607568 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | AR |
| MMADHC | 611935 | Methylmalonic aciduria and homocystinuria, cblD type | AR |
| Methylmalonic aciduria, cblD type, variant 2 | AR | ||
| Homocystinuria, cblD type, variant 1 | AR | ||
| MMP13 | 600108 | Metaphyseal anadysplasia 1 | AD |
| Metaphyseal dysplasia, Spahr type | AR | ||
| ?Spondyloepimetaphyseal dysplasia, Missouri type | AD | ||
| MMP21 | 608416 | Heterotaxy, visceral, 7, autosomal | AR |
| MMP9 | 120361 | Metaphyseal anadysplasia 2 | - |
| MMUT | 609058 | Methylmalonic aciduria, mut(0) type | AR |
| MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE | AR |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | AR | ||
| MUC1 | 158340 | Medullary cystic kidney disease 1 | AD |
| MYH9 | 160775 | Deafness, autosomal dominant 17 | AD |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | AD | ||
| MYO1E | - | Glomerulosclerosis, focal segmental, 6 | AR |
| MYO5B | 606540 | Microvillus inclusion disease | AR |
| Cholestasis, progressive familial intrahepatic, 10 | - | ||
| MYO7A | 276903 | Deafness, autosomal dominant 11 | AD |
| Usher syndrome, type 1B | AR | ||
| Deafness, autosomal recessive 2 | AR | ||
| MYOCD | 606127 | Megabladder, congenital | AD |
| NADSYN1 | 608285 | Vertebral, cardiac, renal, and limb defects syndrome 3 | AR |
| NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly | AR |
| Infantile liver failure syndrome 2 | AR | ||
| NEK1 | 604588 | Short-rib thoracic dysplasia 6 with or without polydactyly | AR, DR |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | AD | ||
| NEK8 | 609799 | Renal-hepatic-pancreatic dysplasia 2 | AR |
| ?Nephronophthisis 9 | - | ||
| NEUROG3 | 604882 | Diarrhea 4, malabsorptive, congenital | AR |
| NIPBL | 608667 | Cornelia de Lange syndrome 1 | AD |
| NKX2-5 | 600584 | Hypoplastic left heart syndrome 2 | AD |
| Hypothyroidism, congenital nongoitrous, 5 | AD | ||
| Atrial septal defect 7, with or without AV conduction defects | AD | ||
| Conotruncal heart malformations, variable | - | ||
| Ventricular septal defect 3 | AD | ||
| Tetralogy of Fallot | AD | ||
| NKX3-2 | 602183 | Spondylo-megaepiphyseal-metaphyseal dysplasia | AR |
| NME8 | 607421 | Ciliary dyskinesia, primary, 6 | AR |
| NMNAT1 | 608700 | Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis | AR |
| Leber congenital amaurosis 9 | AR | ||
| NODAL | 601265 | Heterotaxy, visceral, 5 | AD |
| NOG | 602991 | Stapes ankylosis with broad thumbs and toes | AD |
| Brachydactyly, type B2 | AD | ||
| Tarsal-carpal coalition syndrome | AD | ||
| Multiple synostoses syndrome 1 | AD | ||
| Symphalangism, proximal, 1A | AD | ||
| NOTCH2 | 600275 | Alagille syndrome 2 | AD |
| Hajdu-Cheney syndrome | AD | ||
| NPC1 | 607623 | Niemann-Pick disease, type C1 | AR |
| Niemann-Pick disease, type D | AR | ||
| NPC2 | 601015 | Niemann-pick disease, type C2 | AR |
| NPHP1 | 607100 | Joubert syndrome 4 | AR |
| Nephronophthisis 1, juvenile | AR | ||
| Senior-Loken syndrome-1 | AR | ||
| NPHP3 | 608002 | Nephronophthisis 3 | AR |
| Meckel syndrome 7 | AR | ||
| Renal-hepatic-pancreatic dysplasia 1 | AR | ||
| NPHP4 | 607215 | Senior-Loken syndrome 4 | AR |
| Nephronophthisis 4 | AR | ||
| NPHS1 | 602716 | Nephrotic syndrome, type 1 | AR |
| NPHS2 | 604766 | Nephrotic syndrome, type 2 | AR |
| NPR2 | 108961 | Acromesomelic dysplasia, Maroteaux type | AR |
| Short stature with nonspecific skeletal abnormalities | AD | ||
| Epiphyseal chondrodysplasia, Miura type | AD | ||
| NR0B1 | - | Adrenal hypoplasia, congenital | XLR |
| 46XY sex reversal 2, dosage-sensitive | XL | ||
| NR0B2 | 604630 | Obesity, mild, early-onset | AD, AR, MF |
| NR1H4 | 603826 | Cholestasis, progressive familial intrahepatic, 5 | AR |
| NR3C2 | 600983 | Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy | - |
| Pseudohypoaldosteronism type I, autosomal dominant | AD | ||
| NSDHL | 300275 | CK syndrome | XLR |
| CHILD syndrome | XLD | ||
| NSMF | - | Hypogonadotropic hypogonadism 9 with or without anosmia | AD |
| NUP107 | 607617 | Galloway-Mowat syndrome 7 | AR |
| Nephrotic syndrome, type 11 | AR | ||
| ?Ovarian dysgenesis 6 | AR | ||
| NUP93 | 614351 | Nephrotic syndrome, type 12 | AR |
| OBSL1 | 610991 | 3-M syndrome 2 | AR |
| OCRL | - | Lowe syndrome | XLR |
| Dent disease 2 | XLR | ||
| ODAD1 | 615038 | Ciliary dyskinesia, primary, 20 | AR |
| ODAD2 | 615408 | Ciliary dyskinesia, primary, 23 | AR |
| ODAD3 | 615956 | Ciliary dyskinesia, primary, 30 | AR |
| OFD1 | 300170 | Joubert syndrome 10 | XLR |
| Simpson-Golabi-Behmel syndrome, type 2 | XLR | ||
| ?Retinitis pigmentosa 23 | XLR | ||
| Orofaciodigital syndrome I | XLD | ||
| OSGEP | 610107 | Galloway-Mowat syndrome 3 | AR |
| OTX2 | 600037 | Retinal dystrophy, early-onset, with or without pituitary dysfunction | AD |
| Microphthalmia, syndromic 5 | AD | ||
| Pituitary hormone deficiency, combined, 6 | AD | ||
| P3H1 | 610339 | Osteogenesis imperfecta, type VIII | AR |
| PAPSS2 | 603005 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes | AR |
| PAX2 | 167409 | Glomerulosclerosis, focal segmental, 7 | AD |
| Papillorenal syndrome | AD | ||
| PBX1 | 176310 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | AD |
| PCSK1 | 162150 | Obesity with impaired prohormone processing | AR |
| Obesity, susceptibility to, BMIQ12 | - | ||
| PDE4D | 600129 | Acrodysostosis 2, with or without hormone resistance | AD |
| PDE6D | 602676 | Joubert syndrome 22 | AR |
| PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
| PEX1 | 602136 | Peroxisome biogenesis disorder 1A (Zellweger) | AR |
| Peroxisome biogenesis disorder 1B (NALD/IRD) | AR | ||
| Heimler syndrome 1 | AR | ||
| PEX10 | 602859 | Peroxisome biogenesis disorder 6A (Zellweger) | AR |
| Peroxisome biogenesis disorder 6B | AR | ||
| PEX12 | 601758 | Peroxisome biogenesis disorder 3B | AR |
| Peroxisome biogenesis disorder 3A (Zellweger) | AR | ||
| PEX2 | 170993 | Peroxisome biogenesis disorder 5B | AR |
| Peroxisome biogenesis disorder 5A (Zellweger) | AR | ||
| PEX26 | 608666 | Peroxisome biogenesis disorder 7A (Zellweger) | AR |
| Peroxisome biogenesis disorder 7B | AR | ||
| PEX5 | 600414 | Rhizomelic chondrodysplasia punctata, type 5 | AR |
| Peroxisome biogenesis disorder 2B | AR | ||
| Peroxisome biogenesis disorder 2A (Zellweger) | AR | ||
| PEX6 | - | Peroxisome biogenesis disorder 4B | AD, AR |
| Peroxisome biogenesis disorder 4A (Zellweger) | AR | ||
| Heimler syndrome 2 | AR | ||
| PEX7 | 601757 | Peroxisome biogenesis disorder 9B | AR |
| Rhizomelic chondrodysplasia punctata, type 1 | AR | ||
| PHEX | - | Hypophosphatemic rickets, X-linked dominant | XLD |
| PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
| PIBF1 | 607532 | Joubert syndrome 33 | AR |
| PKD1 | 601313 | Polycystic kidney disease 1 | AD |
| PKD1L1 | 609721 | Heterotaxy, visceral, 8, autosomal | AR |
| PKD2 | 173910 | Polycystic kidney disease 2 | AD |
| PKHD1 | 606702 | Polycystic kidney disease 4, with or without hepatic disease | AR |
| PLCE1 | 608414 | Nephrotic syndrome, type 3 | AR |
| PLOD2 | 601865 | Bruck syndrome 2 | AR |
| PMM2 | 601785 | Congenital disorder of glycosylation, type Ia | AR |
| PNPLA6 | 603197 | Spastic paraplegia 39, autosomal recessive | AR |
| Boucher-Neuhauser syndrome | AR | ||
| Oliver-McFarlane syndrome | AR | ||
| ?Laurence-Moon syndrome | AR | ||
| POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1 | AR |
| Progressive external ophthalmoplegia, autosomal dominant 1 | AD | ||
| Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) | AR | ||
| Mitochondrial DNA depletion syndrome 4B (MNGIE type) | AR | ||
| Mitochondrial DNA depletion syndrome 4A (Alpers type) | AR | ||
| POLR3B | 614366 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | AR |
| Charcot-Marie-Tooth disease, demyelinating, type 1I | AD | ||
| POMC | 176830 | Obesity, adrenal insufficiency, and red hair due to POMC deficiency | AR |
| Obesity, early-onset, susceptibility to | AD, AR, MF | ||
| POU1F1 | 173110 | Pituitary hormone deficiency, combined, 1 | AD, AR |
| PPARG | - | Carotid intimal medial thickness 1 | - |
| Obesity, severe | AD, AR, MF | ||
| Lipodystrophy, familial partial, type 3 | AD | ||
| Diabetes, type 2 | AD | ||
| Insulin resistance, severe, digenic | AD | ||
| PPIB | 123841 | Osteogenesis imperfecta, type IX | AR |
| PRKAR1A | 188830 | Myxoma, intracardiac | AD |
| Pigmented nodular adrenocortical disease, primary, 1 | AD | ||
| Carney complex, type 1 | AD | ||
| Acrodysostosis 1, with or without hormone resistance | AD | ||
| PRKCSH | 177060 | Polycystic liver disease 1 | AD |
| PROK2 | 607002 | Hypogonadotropic hypogonadism 4 with or without anosmia | AD |
| PROKR2 | 607123 | Hypogonadotropic hypogonadism 3 with or without anosmia | AD |
| PROM1 | 604365 | Cone-rod dystrophy 12 | AD, AR |
| Macular dystrophy, retinal, 2 | AD | ||
| Retinitis pigmentosa 41 | AR | ||
| Stargardt disease 4 | AD | ||
| PROP1 | 601538 | Pituitary hormone deficiency, combined, 2 | AR |
| PRPH2 | 179605 | Retinitis pigmentosa 7 and digenic form | AD, AR, DD |
| Retinitis punctata albescens | AD, AR | ||
| Choroidal dystrophy, central areolar 2 | AD | ||
| Macular dystrophy, patterned, 1 | AD | ||
| Macular dystrophy, vitelliform, 3 | AD | ||
| Leber congenital amaurosis 18 | AD, AR, DD | ||
| PTH1R | 168468 | Chondrodysplasia, Blomstrand type | AR |
| Failure of tooth eruption, primary | AD | ||
| Eiken syndrome | AR | ||
| Metaphyseal chondrodysplasia, Murk Jansen type | AD | ||
| PTHLH | 168470 | Brachydactyly, type E2 | AD |
| PTPRO | 600579 | Nephrotic syndrome, type 6 | AR |
| RBBP8 | 604124 | Seckel syndrome 2 | AR |
| Jawad syndrome | AR | ||
| RD3 | 180040 | Leber congenital amaurosis 12 | AR |
| RDH12 | 608830 | Leber congenital amaurosis 13 | AD, AR |
| RDH5 | 601617 | Fundus albipunctatus | AD, AR |
| REN | 179820 | Hyperuricemic nephropathy, familial juvenile 2 | AD |
| Renal tubular dysgenesis | AR | ||
| RET | 164761 | Hirschsprung disease, susceptibility to, 1 | AD |
| Multiple endocrine neoplasia IIA | AD | ||
| Medullary thyroid carcinoma | AD | ||
| Pheochromocytoma | AD | ||
| Multiple endocrine neoplasia IIB | AD | ||
| Hirschsprung disease, protection against | AD | ||
| Central hypoventilation syndrome, congenital | AD | ||
| RHO | 180380 | Retinitis punctata albescens | AD, AR |
| Retinitis pigmentosa 4, autosomal dominant or recessive | AD, AR | ||
| Night blindness, congenital stationary, autosomal dominant 1 | - | ||
| RLBP1 | 180090 | Newfoundland rod-cone dystrophy | - |
| Fundus albipunctatus | AD, AR | ||
| Retinitis punctata albescens | AD, AR | ||
| Bothnia retinal dystrophy | AR | ||
| RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
| RNF216 | 609948 | Cerebellar ataxia and hypogonadotropic hypogonadism | AR |
| ROBO2 | 602431 | Vesicoureteral reflux 2 | AD |
| ROR2 | 602337 | Brachydactyly, type B1 | AD |
| Robinow syndrome, autosomal recessive | AR | ||
| RPE65 | 180069 | Leber congenital amaurosis 2 | AR |
| Retinitis pigmentosa 20 | AR | ||
| Retinitis pigmentosa 87 with choroidal involvement | AD | ||
| RPGRIP1 | 605446 | Cone-rod dystrophy 13 | AR |
| Leber congenital amaurosis 6 | AR | ||
| RPGRIP1L | 610937 | Joubert syndrome 7 | AR |
| ?COACH syndrome 3 | AR | ||
| Meckel syndrome 5 | AR | ||
| RRM2B | 604712 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | AR |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | AD | ||
| Mitochondrial DNA depletion syndrome 8B (MNGIE type) | AR | ||
| Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | AR | ||
| RSPH1 | 609314 | Ciliary dyskinesia, primary, 24 | AR |
| RSPH4A | 612647 | Ciliary dyskinesia, primary, 11 | - |
| RSPH9 | 612648 | Ciliary dyskinesia, primary, 12 | - |
| RUNX2 | 600211 | Cleidocranial dysplasia, forme fruste, with brachydactyly | AD |
| Cleidocranial dysplasia | AD | ||
| Cleidocranial dysplasia, forme fruste, dental anomalies only | AD | ||
| Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | AD | ||
| SALL1 | 602218 | Townes-Brocks branchiootorenal-like syndrome | AD |
| Townes-Brocks syndrome 1 | AD | ||
| SALL4 | 607343 | IVIC syndrome | AD |
| Duane-radial ray syndrome | AD | ||
| SBDS | 607444 | Aplastic anemia, susceptibility to | - |
| Shwachman-Diamond syndrome | AR | ||
| SCARB2 | 602257 | Epilepsy, progressive myoclonic 4, with or without renal failure | AR |
| SCNN1A | 600228 | Pseudohypoaldosteronism, type I | AR |
| ?Liddle syndrome 3 | AD | ||
| Bronchiectasis with or without elevated sweat chloride 2 | AD | ||
| SCNN1B | 600760 | Bronchiectasis with or without elevated sweat chloride 1 | AD |
| Pseudohypoaldosteronism, type I | AR | ||
| Liddle syndrome 1 | AD | ||
| Pseudohypoaldosteronism, type IB2, autosomal recessive | - | ||
| SCNN1G | 600761 | Pseudohypoaldosteronism, type I | AR |
| Liddle syndrome 2 | AD | ||
| Bronchiectasis with or without elevated sweat chloride 3 | AD | ||
| Pseudohypoaldosteronism, type IB3, autosomal recessive | - | ||
| SDCCAG8 | 613524 | Bardet-Biedl syndrome 16 | AR |
| Senior-Loken syndrome 7 | AR | ||
| SEC61A1 | 609213 | Hyperuricemic nephropathy, familial juvenile, 4 | AD |
| SEC63 | 608648 | Polycystic liver disease 2 | AD |
| SEMA3A | 603961 | Hypogonadotropic hypogonadism 16 with or without anosmia | AD |
| SERPINA1 | 107400 | Hemorrhagic diathesis due to antithrombin Pittsburgh | AR |
| Emphysema-cirrhosis, due to AAT deficiency | AR | ||
| Emphysema due to AAT deficiency | AR | ||
| SERPINF1 | 172860 | Osteogenesis imperfecta, type VI | AR |
| SERPINH1 | 600943 | Preterm premature rupture of the membranes, susceptibility to | - |
| Osteogenesis imperfecta, type X | AR | ||
| SGPL1 | 603729 | Nephrotic syndrome, type 14 | AR |
| SH3PXD2B | 613293 | Frank-ter Haar syndrome | AR |
| SIX1 | 601205 | Deafness, autosomal dominant 23 | AD |
| Branchiootic syndrome 3 | AD | ||
| SIX5 | 600963 | Branchiootorenal syndrome 2 | - |
| SLC12A1 | 600839 | Bartter syndrome, type 1 | AR |
| SLC12A3 | 600968 | Gitelman syndrome | AR |
| SLC25A13 | 603859 | Citrullinemia, type II, neonatal-onset | AR |
| Citrullinemia, adult-onset type II | AR | ||
| SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| SLC26A2 | 606718 | Diastrophic dysplasia, broad bone-platyspondylic variant | AR |
| Achondrogenesis Ib | AR | ||
| Epiphyseal dysplasia, multiple, 4 | AR | ||
| De la Chapelle dysplasia | AR | ||
| Diastrophic dysplasia | AR | ||
| Atelosteogenesis, type II | AR | ||
| SLC26A3 | 126650 | Diarrhea 1, secretory chloride, congenital | AR |
| SLC2A2 | 138160 | Fanconi-Bickel syndrome | AR |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| SLC34A1 | 182309 | Nephrolithiasis/osteoporosis, hypophosphatemic, 1 | AD |
| ?Fanconi renotubular syndrome 2 | AR | ||
| Hypercalcemia, infantile, 2 | AR | ||
| SLC34A3 | 609826 | Hypophosphatemic rickets with hypercalciuria | AR |
| SLC35D1 | 610804 | Schneckenbecken dysplasia | AR |
| SLC4A1 | 109270 | [Blood group, Wright] | - |
| Distal renal tubular acidosis 1 | AD | ||
| Ovalocytosis, SA type | AD | ||
| [Malaria, resistance to] | - | ||
| [Blood group, Swann] | - | ||
| [Blood group, Froese] | - | ||
| [Blood group, Waldner] | - | ||
| Cryohydrocytosis | AD | ||
| [Blood group, Diego] | - | ||
| Distal renal tubular acidosis 4 with hemolytic anemia | AR | ||
| Spherocytosis, type 4 | AD | ||
| SLC4A4 | 603345 | Renal tubular acidosis, proximal, with ocular abnormalities | AR |
| SLCO1B1 | 604843 | Hyperbilirubinemia, Rotor type, digenic | DR |
| SLCO1B3 | 605495 | Hyperbilirubinemia, Rotor type, digenic | DR |
| SMARCAL1 | 606622 | Schimke immunoosseous dysplasia | AR |
| SMPD1 | 607608 | Niemann-Pick disease, type A | AR |
| Niemann-Pick disease, type B | AR | ||
| SOX10 | 602229 | Waardenburg syndrome, type 4C | AD |
| PCWH syndrome | AD | ||
| Waardenburg syndrome, type 2E, with or without neurologic involvement | AD | ||
| SOX11 | 600898 | Coffin-Siris syndrome 9 | AD |
| SOX17 | 610928 | Vesicoureteral reflux 3 | AD |
| SOX2 | 184429 | Microphthalmia, syndromic 3 | AD |
| Optic nerve hypoplasia and abnormalities of the central nervous system | AD | ||
| SOX3 | 313430 | Panhypopituitarism, X-linked | XL |
| Mental retardation, X-linked, with isolated growth hormone deficiency | - | ||
| SOX9 | 608160 | Acampomelic campomelic dysplasia | AD |
| Campomelic dysplasia | AD | ||
| Campomelic dysplasia with autosomal sex reversal | AD | ||
| SPAG1 | 603395 | Ciliary dyskinesia, primary, 28 | AR |
| SPATA7 | 609868 | Retinitis pigmentosa, juvenile, autosomal recessive | - |
| Leber congenital amaurosis 3 | - | ||
| SPINT2 | 605124 | Diarrhea 3, secretory sodium, congenital, syndromic | AR |
| SPRY4 | 607984 | Hypogonadotropic hypogonadism 17 with or without anosmia | AD |
| STRA6 | 610745 | Microphthalmia, isolated, with coloboma 8 | AR |
| Microphthalmia, syndromic 9 | AR | ||
| SUFU | 607035 | Meningioma, familial, susceptibility to | AD |
| Basal cell nevus syndrome | AD | ||
| Medulloblastoma, desmoplastic | AD, AR, SM | ||
| Joubert syndrome 32 | AR | ||
| TAC3 | 162330 | Hypogonadotropic hypogonadism 10 with or without anosmia | AR |
| TACR3 | 162332 | Hypogonadotropic hypogonadism 11 with or without anosmia | AR |
| TBX15 | 604127 | Cousin syndrome | AR |
| TBX18 | 604613 | Congenital anomalies of kidney and urinary tract 2 | AD |
| TBX3 | 601621 | Ulnar-mammary syndrome | AD |
| TBX5 | 601620 | Holt-Oram syndrome | AD |
| TCTN1 | 609863 | Joubert syndrome 13 | AR |
| TCTN2 | 613846 | ?Meckel syndrome 8 | AR |
| Joubert syndrome 24 | AR | ||
| TCTN3 | 613847 | Joubert syndrome 18 | AR |
| Orofaciodigital syndrome IV | AR | ||
| TFR2 | 604720 | Hemochromatosis, type 3 | AR |
| TJP2 | 607709 | Hypercholanemia, familial | AR |
| Cholestasis, progressive familial intrahepatic 4 | AR | ||
| TMEM107 | 616183 | Meckel syndrome 13 | AR |
| ?Joubert syndrome 29 | AR | ||
| Orofaciodigital syndrome XVI | AR | ||
| TMEM138 | 614459 | Joubert syndrome 16 | AR |
| TMEM216 | 613277 | Meckel syndrome 2 | AR |
| Joubert syndrome 2 | AR | ||
| TMEM231 | 614949 | Joubert syndrome 20 | AR |
| Meckel syndrome 11 | AR | ||
| TMEM237 | 614423 | Joubert syndrome 14 | AR |
| TMEM67 | 609884 | COACH syndrome 1 | AR |
| ?RHYNS syndrome | AR | ||
| Meckel syndrome 3 | AR | ||
| Joubert syndrome 6 | AR | ||
| Bardet-Biedl syndrome 14, modifier of | AR | ||
| Nephronophthisis 11 | AR | ||
| TNFRSF11B | 602643 | Paget disease of bone 5, juvenile-onset | AR |
| TP53RK | 608679 | Galloway-Mowat syndrome 4 | AR |
| TPRKB | 608680 | Galloway-Mowat syndrome 5 | AR |
| TRAF3IP1 | 607380 | Senior-Loken syndrome 9 | AR |
| TRIM32 | 602290 | Muscular dystrophy, limb-girdle, autosomal recessive 8 | AR |
| ?Bardet-Biedl syndrome 11 | AR | ||
| TRIP11 | 604505 | Achondrogenesis, type IA | AR |
| Osteochondrodysplasia | AR | ||
| TRMU | 610230 | Liver failure, transient infantile | AR |
| Deafness, mitochondrial, modifier of | Mitochondrial | ||
| TRPC6 | 603652 | Glomerulosclerosis, focal segmental, 2 | AD |
| TRPS1 | 604386 | Trichorhinophalangeal syndrome, type I | AD |
| Trichorhinophalangeal syndrome, type III | AD | ||
| TRPV4 | 605427 | SED, Maroteaux type | AD |
| Spondylometaphyseal dysplasia, Kozlowski type | AD | ||
| Metatropic dysplasia | AD | ||
| Brachyolmia type 3 | AD | ||
| Neuronopathy, distal hereditary motor, type VIII | AD | ||
| [Sodium serum level QTL 1] | - | ||
| ?Avascular necrosis of femoral head, primary, 2 | AD | ||
| Scapuloperoneal spinal muscular atrophy | AD | ||
| Parastremmatic dwarfism | AD | ||
| Hereditary motor and sensory neuropathy, type IIc | AD | ||
| Digital arthropathy-brachydactyly, familial | AD | ||
| TSC1 | 605284 | Lymphangioleiomyomatosis | - |
| Focal cortical dysplasia, type II, somatic | - | ||
| Tuberous sclerosis-1 | AD | ||
| TSC2 | 191092 | ?Focal cortical dysplasia, type II, somatic | - |
| Lymphangioleiomyomatosis, somatic | - | ||
| Tuberous sclerosis-2 | AD | ||
| TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly | AR |
| Nephronophthisis 12 | AD, AR | ||
| TTC37 | 614589 | Trichohepatoenteric syndrome 1 | AR |
| TTC8 | - | Bardet-Biedl syndrome 8 | AR |
| ?Retinitis pigmentosa 51 | AR | ||
| TULP1 | 602280 | Retinitis pigmentosa 14 | AR |
| Leber congenital amaurosis 15 | AR | ||
| TXNDC15 | 617778 | Meckel syndrome 14 | - |
| UGT1A1 | 191740 | [Gilbert syndrome] | AR |
| Crigler-Najjar syndrome, type II | AR | ||
| Crigler-Najjar syndrome, type I | AR | ||
| Hyperbilirubinemia, familial transient neonatal | AD, AR | ||
| [Bilirubin, serum level of, QTL1] | - | ||
| UMOD | 191845 | Glomerulocystic kidney disease with hyperuricemia and isosthenuria | - |
| Hyperuricemic nephropathy, familial juvenile 1 | AD | ||
| Medullary cystic kidney disease 2 | - | ||
| VHL | 608537 | Pheochromocytoma | AD |
| von Hippel-Lindau syndrome | AD | ||
| Renal cell carcinoma, somatic | - | ||
| Erythrocytosis, familial, 2 | AR | ||
| VIPAS39 | 613401 | Arthrogryposis, renal dysfunction, and cholestasis 2 | AR |
| VPS33B | 608552 | Arthrogryposis, renal dysfunction, and cholestasis 1 | AR |
| Cholestasis, progressive familial intrahepatic, 12 | - | ||
| Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | - | ||
| WDR11 | 606417 | Hypogonadotropic hypogonadism 14 with or without anosmia | AD |
| WDR19 | 608151 | ?Cranioectodermal dysplasia 4 | AR |
| ?Short-rib thoracic dysplasia 5 with or without polydactyly | AR | ||
| Nephronophthisis 13 | AR | ||
| ?Spermatogenic failure 72 | - | ||
| Senior-Loken syndrome 8 | AR | ||
| WDR35 | 613602 | Cranioectodermal dysplasia 2 | AR |
| Short-rib thoracic dysplasia 7 with or without polydactyly | AR | ||
| WDR4 | 605924 | Microcephaly, growth deficiency, seizures, and brain malformations | AR |
| Galloway-Mowat syndrome 6 | AR | ||
| WDR73 | 616144 | Galloway-Mowat syndrome 1 | AR |
| WNK1 | 605232 | Neuropathy, hereditary sensory and autonomic, type II | AR |
| Pseudohypoaldosteronism, type IIC | AD | ||
| WNK4 | 601844 | Pseudohypoaldosteronism, type IIB | AD |
| WNT4 | 603490 | Mullerian aplasia and hyperandrogenism | AD |
| ?SERKAL syndrome | AR | ||
| WNT5A | 164975 | Robinow syndrome, autosomal dominant 1 | AD |
| WNT7A | 601570 | Fuhrmann syndrome | AR |
| Ulna and fibula, absence of, with severe limb deficiency | AR | ||
| WT1 | 607102 | Denys-Drash syndrome | AD, SM |
| Mesothelioma, somatic | - | ||
| Frasier syndrome | AD, SM | ||
| Meacham syndrome | AD | ||
| Wilms tumor, type 1 | AD, SM | ||
| Nephrotic syndrome, type 4 | AD | ||
| XPNPEP3 | 613553 | Nephronophthisis-like nephropathy 1 | AR |
| XYLT1 | - | Desbuquois dysplasia 2 | AR |
| Pseudoxanthoma elasticum, modifier of severity of | AR | ||
| ZIC3 | 300265 | VACTERL association, X-linked | XLR |
| Congenital heart defects, nonsyndromic, 1, X-linked | XLR | ||
| Heterotaxy, visceral, 1, X-linked | XLR | ||
| ZMYND10 | 607070 | Ciliary dyskinesia, primary, 22 | AR |
| ZNF423 | 604557 | Joubert syndrome 19 | AD, AR |
| Nephronophthisis 14 | AD, AR |
CentoNephro Plus
If polycystic kidney disease is suspected, CentoNephro Plus is recommended, which includes all genes from CentoNephro and PKD1 analysis.
| No. of genes: | 504 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
MLPA: PKD1
Sanger sequencing: PKD1
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCB11 | 603201 | Cholestasis, benign recurrent intrahepatic, 2 | AR |
| Cholestasis, progressive familial intrahepatic 2 | AR | ||
| ABCB4 | 171060 | Gallbladder disease 1 | AD, AR |
| Cholestasis, progressive familial intrahepatic 3 | AR | ||
| Cholestasis, intrahepatic, of pregnancy, 3 | AD, AR | ||
| ABCC2 | 601107 | Dubin-Johnson syndrome | AR |
| ACE | 106180 | Microvascular complications of diabetes 3 | - |
| Stroke, hemorrhagic | - | ||
| Renal tubular dysgenesis | AR | ||
| ACP5 | 171640 | Spondyloenchondrodysplasia with immune dysregulation | AR |
| ACTG2 | 102545 | Visceral myopathy | AD |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | AD | ||
| ACTN4 | 604638 | Glomerulosclerosis, focal segmental, 1 | AD |
| ACVR2B | 602730 | Heterotaxy, visceral, 4, autosomal | - |
| AGPS | 603051 | Rhizomelic chondrodysplasia punctata, type 3 | AR |
| AGT | 106150 | Hypertension, essential, susceptibility to | MF |
| Renal tubular dysgenesis | AR | ||
| AGTR1 | 106165 | Hypertension, essential | MF |
| Renal tubular dysgenesis | AR | ||
| AGXT | 604285 | Hyperoxaluria, primary, type 1 | AR |
| AHI1 | 608894 | Joubert syndrome 3 | AR |
| AIPL1 | 604392 | Cone-rod dystrophy | AD, AR |
| Leber congenital amaurosis 4 | AD, AR | ||
| Retinitis pigmentosa, juvenile | AD, AR | ||
| AKR1D1 | 604741 | Bile acid synthesis defect, congenital, 2 | AR |
| ALDOB | 612724 | Fructose intolerance, hereditary | AR |
| ALG8 | - | Polycystic liver disease 3 with or without kidney cysts | AD |
| Congenital disorder of glycosylation, type Ih | AR | ||
| ALG9 | 606941 | Congenital disorder of glycosylation, type Il | AR |
| Gillessen-Kaesbach-Nishimura syndrome | AR | ||
| ALPL | 171760 | Hypophosphatasia, infantile | AR |
| Odontohypophosphatasia | AD, AR | ||
| Hypophosphatasia, childhood | AR | ||
| Hypophosphatasia, adult | AD, AR | ||
| AMER1 | 300647 | Osteopathia striata with cranial sclerosis | XLD |
| ANKH | 605145 | Chondrocalcinosis 2 | AD |
| Craniometaphyseal dysplasia | AD | ||
| ANKS6 | 615370 | Nephronophthisis 16 | AR |
| ANLN | 616027 | Focal segmental glomerulosclerosis 8 | AD |
| ANO5 | 608662 | Gnathodiaphyseal dysplasia | AD |
| Muscular dystrophy, limb-girdle, autosomal recessive 12 | AR | ||
| Miyoshi muscular dystrophy 3 | AR | ||
| ANOS1 | 300836 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | XLR |
| AP2S1 | 602242 | Hypocalciuric hypercalcemia, type III | AD |
| ARHGAP31 | 610911 | Adams-Oliver syndrome 1 | AD |
| ARHGDIA | 601925 | Nephrotic syndrome, type 8 | AR |
| ARL13B | 608922 | Joubert syndrome 8 | AR |
| ARL3 | 604695 | Retinitis pigmentosa 83 | AD |
| Joubert syndrome 35 | AR | ||
| ARL6 | 608845 | Retinitis pigmentosa 55 | AR |
| Bardet-Biedl syndrome 1, modifier of | AR, DR | ||
| Bardet-Biedl syndrome 3 | AR | ||
| ARMC5 | 615549 | ACTH-independent macronodular adrenal hyperplasia 2 | AD, SM |
| ARMC9 | 617612 | Joubert syndrome 30 | AR |
| ARSL | 300180 | Chondrodysplasia punctata, X-linked recessive | XLR |
| ATP6V0A4 | 605239 | Distal renal tubular acidosis 3, with or without sensorineural hearing loss | AR |
| ATP6V1B1 | 192132 | Distal renal tubular acidosis 2 with progressive sensorineural hearing loss | AR |
| ATP8B1 | 602397 | Cholestasis, progressive familial intrahepatic 1 | AR |
| Cholestasis, intrahepatic, of pregnancy, 1 | AD | ||
| Cholestasis, benign recurrent intrahepatic | AR | ||
| ATR | 601215 | ?Cutaneous telangiectasia and cancer syndrome, familial | AD |
| Seckel syndrome 1 | AR | ||
| AVPR2 | - | Nephrogenic syndrome of inappropriate antidiuresis | XLR |
| Diabetes insipidus, nephrogenic | XLR | ||
| B9D1 | 614144 | ?Meckel syndrome 9 | AR |
| Joubert syndrome 27 | AR | ||
| B9D2 | 611951 | ?Meckel syndrome 10 | AR |
| Joubert syndrome 34 | AR | ||
| BAAT | 602938 | Hypercholanemia, familial | AR |
| Bile acid conjugation defect 1 | AR | ||
| BBS1 | 209901 | Bardet-Biedl syndrome 1 | AR, DR |
| BBS10 | 610148 | Bardet-Biedl syndrome 10 | AR |
| BBS12 | 610683 | Bardet-Biedl syndrome 12 | AR |
| BBS2 | 606151 | Bardet-Biedl syndrome 2 | AR |
| Retinitis pigmentosa 74 | AR | ||
| BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
| BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
| BBS7 | 607590 | Bardet-Biedl syndrome 7 | AR |
| BBS9 | 607968 | Bardet-Biedl syndrome 9 | AR |
| BCS1L | 603647 | GRACILE syndrome | AR |
| Bjornstad syndrome | AR | ||
| Mitochondrial complex III deficiency, nuclear type 1 | AR | ||
| BICC1 | 614295 | Renal dysplasia, cystic, susceptibility to | AD |
| BMP1 | 112264 | Osteogenesis imperfecta, type XIII | AR |
| BMP4 | 112262 | Microphthalmia, syndromic 6 | AD |
| Orofacial cleft 11 | - | ||
| BMPR1B | 603248 | Brachydactyly, type A2 | AD |
| Acromesomelic dysplasia, Demirhan type | AR | ||
| Brachydactyly, type A1, D | AD | ||
| BNC2 | 608669 | Lower urinary tract obstruction, congenital | AD |
| BSND | 606412 | Bartter syndrome, type 4a | AR |
| Sensorineural deafness with mild renal dysfunction | AR | ||
| C2CD3 | 615944 | Orofaciodigital syndrome XIV | AR |
| CA2 | 611492 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | AR |
| CABP4 | 608965 | Cone-rod synaptic disorder, congenital nonprogressive | AR |
| CANT1 | 613165 | Desbuquois dysplasia 1 | AR |
| Epiphyseal dysplasia, multiple, 7 | AR | ||
| CASP10 | 601762 | Autoimmune lymphoproliferative syndrome, type II | AD |
| Gastric cancer, somatic | - | ||
| Lymphoma, non-Hodgkin, somatic | - | ||
| CASR | 601199 | Epilepsy idiopathic generalized, susceptibility to, 8 | - |
| Hypocalcemia, autosomal dominant, with Bartter syndrome | AD | ||
| Hypocalciuric hypercalcemia, type I | AD | ||
| Hyperparathyroidism, neonatal | AD, AR | ||
| Hypocalcemia, autosomal dominant | AD | ||
| CC2D2A | 612013 | Meckel syndrome 6 | AR |
| Retinitis pigmentosa 93 | AR | ||
| Joubert syndrome 9 | AR | ||
| COACH syndrome 2 | AR | ||
| CCDC103 | 614677 | Ciliary dyskinesia, primary, 17 | AR |
| CCDC28B | 610162 | Bardet-Biedl syndrome 1, modifier of | AR, DR |
| CCDC39 | 613798 | Ciliary dyskinesia, primary, 14 | AR |
| CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | AR |
| CCDC65 | 611088 | Ciliary dyskinesia, primary, 27 | AR |
| CCN6 | 603400 | Progressive pseudorheumatoid dysplasia | AR |
| CCNO | 607752 | Ciliary dyskinesia, primary, 29 | AR |
| CD2AP | 604241 | Glomerulosclerosis, focal segmental, 3 | - |
| CDKN1C | 600856 | IMAGE syndrome | AD |
| Beckwith-Wiedemann syndrome | AD | ||
| CENPF | 600236 | Stromme syndrome | AR |
| CENPJ | 609279 | ?Seckel syndrome 4 | AR |
| Microcephaly 6, primary, autosomal recessive | AR | ||
| CEP120 | 613446 | Joubert syndrome 31 | AR |
| Short-rib thoracic dysplasia 13 with or without polydactyly | AR | ||
| CEP152 | 613529 | Microcephaly 9, primary, autosomal recessive | AR |
| Seckel syndrome 5 | AR | ||
| CEP164 | 614848 | Nephronophthisis 15 | AR |
| CEP290 | 610142 | Leber congenital amaurosis 10 | - |
| Meckel syndrome 4 | AR | ||
| ?Bardet-Biedl syndrome 14 | AR | ||
| Senior-Loken syndrome 6 | AR | ||
| Joubert syndrome 5 | AR | ||
| CEP41 | 610523 | Joubert syndrome 15 | AR |
| CEP55 | 610000 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | AR |
| CEP83 | 615847 | Nephronophthisis 18 | AR |
| CFAP298 | 615494 | Ciliary dyskinesia, primary, 26 | AR |
| CFAP418 | 614477 | Retinitis pigmentosa 64 | AR |
| Cone-rod dystrophy 16 | AR | ||
| Bardet-Biedl syndrome 21 | AR | ||
| CFAP53 | 614759 | Heterotaxy, visceral, 6, autosomal recessive | AR |
| CFTR | 602421 | Congenital bilateral absence of vas deferens | AR |
| Pancreatitis, hereditary | AD | ||
| Bronchiectasis with or without elevated sweat chloride 1, modifier of | AD | ||
| Cystic fibrosis | AR | ||
| CHD7 | 608892 | CHARGE syndrome | AD |
| Hypogonadotropic hypogonadism 5 with or without anosmia | AD | ||
| CHRNA3 | 118503 | Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT | AR |
| Lung cancer susceptibility 2 | - | ||
| CHST3 | 603799 | Spondyloepiphyseal dysplasia with congenital joint dislocations | AR |
| CHSY1 | 608183 | Temtamy preaxial brachydactyly syndrome | AR |
| CILK1 | 612325 | Endocrine-cerebroosteodysplasia | AR |
| Epilepsy, juvenile myoclonic, susceptibility to, 10 | AD | ||
| CLCN5 | 300008 | Nephrolithiasis, type I | XLR |
| Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | XLR | ||
| Dent disease | XLR | ||
| Hypophosphatemic rickets | XLR | ||
| CLCNKA | 602024 | Bartter syndrome, type 4b, digenic | DR |
| CLCNKB | 602023 | Bartter syndrome, type 3 | AR |
| Bartter syndrome, type 4b, digenic | DR | ||
| CLDN16 | 603959 | Hypomagnesemia 3, renal | AR |
| CLDN19 | 610036 | Hypomagnesemia 5, renal, with ocular involvement | AR |
| COL10A1 | 120110 | Metaphyseal chondrodysplasia, Schmid type | AD |
| COL4A1 | 120130 | ?Retinal arteries, tortuosity of | AD |
| Hemorrhage, intracerebral, susceptibility to | - | ||
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | AD | ||
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | AD | ||
| Brain small vessel disease with or without ocular anomalies | AD | ||
| COL4A3 | 120070 | Alport syndrome 3, autosomal dominant | AD |
| Hematuria, benign familial | AD | ||
| Alport syndrome 2, autosomal recessive | AR | ||
| COL4A4 | 120131 | Alport syndrome 2, autosomal recessive | AR |
| Hematuria, familial benign | AD | ||
| COL4A5 | 303630 | Alport syndrome 1, X-linked | XLD |
| COL9A3 | 120270 | Epiphyseal dysplasia, multiple, 3, with or without myopathy | AD |
| Intervertebral disc disease, susceptibility to | - | ||
| Stickler syndrome, type VI | - | ||
| COMP | 600310 | Carpal tunnel syndrome 2 | AD |
| Epiphyseal dysplasia, multiple, 1 | AD | ||
| Pseudoachondroplasia | AD | ||
| COQ2 | 609825 | Coenzyme Q10 deficiency, primary, 1 | AR |
| Multiple system atrophy, susceptibility to | AD, AR | ||
| COQ6 | 614647 | Coenzyme Q10 deficiency, primary, 6 | AR |
| COQ8B | 615567 | Nephrotic syndrome, type 9 | AR |
| COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
| CPLANE1 | 614571 | Orofaciodigital syndrome VI | AR |
| Joubert syndrome 17 | AR | ||
| CRB1 | 604210 | Leber congenital amaurosis 8 | AR |
| Retinitis pigmentosa-12 | AR | ||
| Pigmented paravenous chorioretinal atrophy | AD | ||
| CRB2 | 609720 | Focal segmental glomerulosclerosis 9 | AR |
| Ventriculomegaly with cystic kidney disease | AR | ||
| CRELD1 | 607170 | Atrioventricular septal defect, partial, with heterotaxy syndrome | AD |
| Atrioventricular septal defect, susceptibility to, 2 | AD | ||
| CRTAP | 605497 | Osteogenesis imperfecta, type VII | AR |
| CRX | 602225 | Leber congenital amaurosis 7 | - |
| Cone-rod retinal dystrophy-2 | AD | ||
| CSPP1 | 611654 | Joubert syndrome 21 | AR |
| CTNS | 606272 | Cystinosis, late-onset juvenile or adolescent nephropathic | AR |
| Cystinosis, ocular nonnephropathic | AR | ||
| Cystinosis, nephropathic | AR | ||
| Cystinosis, atypical nephropathic | AR | ||
| CTU2 | 617057 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | AR |
| CUBN | 602997 | [Proteinuria, chronic benign] | AR |
| Imerslund-Grasbeck syndrome 1 | AR | ||
| CUL3 | 603136 | Pseudohypoaldosteronism, type IIE | AD |
| Neurodevelopmental disorder with or without autism or seizures | AD | ||
| CWC27 | 617170 | Retinitis pigmentosa with or without skeletal anomalies | AR |
| CYP7B1 | 603711 | Spastic paraplegia 5A, autosomal recessive | AR |
| Bile acid synthesis defect, congenital, 3 | AR | ||
| DCDC2 | 605755 | Nephronophthisis 19 | AR |
| ?Deafness, autosomal recessive 66 | AR | ||
| Sclerosing cholangitis, neonatal | AR | ||
| DDR2 | 191311 | Spondylometaepiphyseal dysplasia, short limb-hand type | AR |
| Warburg-Cinotti syndrome | AD | ||
| DDX59 | 615464 | Orofaciodigital syndrome V | AR |
| DGKE | - | Nephrotic syndrome, type 7 | AR |
| Hemolytic uremic syndrome, atypical, susceptibility to, 7 | AR | ||
| DGUOK | - | Portal hypertension, noncirrhotic | AR |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | AR | ||
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | AR | ||
| DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
| DICER1 | 606241 | Pleuropulmonary blastoma | AD |
| Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | AD | ||
| GLOW syndrome, somatic mosaic | - | ||
| Rhabdomyosarcoma, embryonal, 2 | - | ||
| DLL3 | 602768 | Spondylocostal dysostosis 1, autosomal recessive | AR |
| DMP1 | 600980 | Hypophosphatemic rickets, AR | AR |
| DNAAF1 | 613190 | Ciliary dyskinesia, primary, 13 | AR |
| DNAAF11 | 614930 | Ciliary dyskinesia, primary, 19 | AR |
| DNAAF2 | 612517 | Ciliary dyskinesia, primary, 10 | AR |
| DNAAF3 | 614566 | Ciliary dyskinesia, primary, 2 | AR |
| DNAAF4 | 608706 | Dyslexia, susceptibility to, 1 | AD |
| Ciliary dyskinesia, primary, 25 | AR | ||
| DNAAF5 | 614864 | Ciliary dyskinesia, primary, 18 | AR |
| DNAH11 | 603339 | Ciliary dyskinesia, primary, 7, with or without situs inversus | AR |
| DNAH5 | 603335 | Ciliary dyskinesia, primary, 3, with or without situs inversus | AR |
| DNAI1 | 604366 | Ciliary dyskinesia, primary, 1, with or without situs inversus | AR |
| DNAI2 | 605483 | Ciliary dyskinesia, primary, 9, with or without situs inversus | AR |
| DNAJB11 | 611341 | Polycystic kidney disease 6 with or without polycystic liver disease | AD |
| DNAL1 | 610062 | Ciliary dyskinesia, primary, 16 | AR |
| DRC1 | 615288 | Ciliary dyskinesia, primary, 21 | AR |
| DSTYK | 612666 | Spastic paraplegia 23 | AR |
| Congenital anomalies of kidney and urinary tract 1 | AD | ||
| DUSP6 | 602748 | Hypogonadotropic hypogonadism 19 with or without anosmia | AD |
| DYM | 607461 | Dyggve-Melchior-Clausen disease | AR |
| Smith-McCort dysplasia | AR | ||
| DYNC2H1 | 603297 | Short-rib thoracic dysplasia 3 with or without polydactyly | AR, DR |
| DYNC2I1 | 615462 | Short-rib thoracic dysplasia 8 with or without polydactyly | AR |
| DYNC2I2 | 613363 | Short-rib thoracic dysplasia 11 with or without polydactyly | AR |
| DYNC2LI1 | 617083 | Short-rib thoracic dysplasia 15 with polydactyly | AR |
| DZIP1L | 617570 | Polycystic kidney disease 5 | AR |
| EBP | 300205 | MEND syndrome | XLR |
| Chondrodysplasia punctata, X-linked dominant | XLD | ||
| EIF2AK3 | 604032 | Wolcott-Rallison syndrome | AR |
| EMP2 | 602334 | Nephrotic syndrome, type 10 | AR |
| ENPP1 | 173335 | Arterial calcification, generalized, of infancy, 1 | AR |
| Obesity, susceptibility to | AD, AR, MF | ||
| Hypophosphatemic rickets, autosomal recessive, 2 | AR | ||
| Cole disease | AD | ||
| Diabetes mellitus, non-insulin-dependent, susceptibility to | AD | ||
| ESCO2 | 609353 | Roberts syndrome | AR |
| Juberg-Hayward syndrome | AR | ||
| SC phocomelia syndrome | AR | ||
| EVC | 604831 | Ellis-van Creveld syndrome | AR |
| ?Weyers acrofacial dysostosis | AD | ||
| EVC2 | 607261 | Ellis-van Creveld syndrome | AR |
| Weyers acrofacial dysostosis | AD | ||
| EXT1 | 608177 | Chondrosarcoma | SM |
| Exostoses, multiple, type 1 | AD | ||
| EXT2 | 608210 | Exostoses, multiple, type 2 | AD |
| Seizures, scoliosis, and macrocephaly syndrome | AR | ||
| EYA1 | 601653 | Anterior segment anomalies with or without cataract | AD |
| Branchiootorenal syndrome 1, with or without cataracts | AD | ||
| ?Otofaciocervical syndrome | AD | ||
| Branchiootic syndrome 1 | AD | ||
| FAH | 613871 | Tyrosinemia, type I | AR |
| FAM20C | 611061 | Raine syndrome | AR |
| FAN1 | 613534 | Interstitial nephritis, karyomegalic | AR |
| FAS | 134637 | Autoimmune lymphoproliferative syndrome, type IA | AD |
| Autoimmune lymphoproliferative syndrome | AD | ||
| FASLG | 134638 | Autoimmune lymphoproliferative syndrome, type IB | AD |
| Lung cancer, susceptibility to | AD, SM | ||
| FAT4 | 612411 | Hennekam lymphangiectasia-lymphedema syndrome 2 | AR |
| Van Maldergem syndrome 2 | AR | ||
| FEZF1 | 613301 | Hypogonadotropic hypogonadism 22, with or without anosmia | AR |
| FGF17 | 603725 | Hypogonadotropic hypogonadism 20 with or without anosmia | AD |
| FGF23 | 605380 | Tumoral calcinosis, hyperphosphatemic, familial, 2 | AR |
| Hypophosphatemic rickets, autosomal dominant | AD | ||
| FGF8 | 600483 | Hypogonadotropic hypogonadism 6 with or without anosmia | AD |
| FGFR1 | 136350 | Osteoglophonic dysplasia | AD |
| Trigonocephaly 1 | AD | ||
| Pfeiffer syndrome | AD | ||
| Encephalocraniocutaneous lipomatosis, somatic mosaic | - | ||
| Hypogonadotropic hypogonadism 2 with or without anosmia | AD | ||
| Jackson-Weiss syndrome | AD | ||
| Hartsfield syndrome | AD | ||
| FGFR2 | 176943 | Crouzon syndrome | AD |
| Saethre-Chotzen syndrome | AD | ||
| Craniofacial-skeletal-dermatologic dysplasia | AD | ||
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | AD | ||
| Gastric cancer, somatic | - | ||
| LADD syndrome | AD | ||
| Beare-Stevenson cutis gyrata syndrome | AD | ||
| Scaphocephaly, maxillary retrusion, and mental retardation | - | ||
| Apert syndrome | AD | ||
| Bent bone dysplasia syndrome | AD | ||
| Pfeiffer syndrome | AD | ||
| Jackson-Weiss syndrome | AD | ||
| FKBP10 | 607063 | Osteogenesis imperfecta, type XI | AR |
| Bruck syndrome 1 | AR | ||
| FLNB | 603381 | Larsen syndrome | AD |
| Boomerang dysplasia | AD | ||
| Spondylocarpotarsal synostosis syndrome | AR | ||
| Atelosteogenesis, type III | AD | ||
| Atelosteogenesis, type I | AD | ||
| FLRT3 | 604808 | Hypogonadotropic hypogonadism 21 with anosmia | AD |
| FN1 | 135600 | Glomerulopathy with fibronectin deposits 2 | AD |
| Spondylometaphyseal dysplasia, corner fracture type | AD | ||
| FOXP1 | 605515 | Mental retardation with language impairment and with or without autistic features | AD |
| FRAS1 | 607830 | Fraser syndrome 1 | AR |
| FREM1 | 608944 | Manitoba oculotrichoanal syndrome | AR |
| Trigonocephaly 2 | AD | ||
| Bifid nose with or without anorectal and renal anomalies | AR | ||
| FREM2 | 608945 | Fraser syndrome 2 | AR |
| Cryptophthalmos, unilateral or bilateral, isolated | AR | ||
| FSHB | 136530 | Hypogonadotropic hypogonadism 24 without anosmia | AR |
| FXYD2 | 601814 | Hypomagnesemia 2, renal | AD |
| GANAB | 104160 | Polycystic kidney disease 3 | AD |
| GATA3 | 131320 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia | AD |
| GDF1 | 602880 | Congenital heart defects, multiple types, 6 | AD |
| Right atrial isomerism (Ivemark) | AR | ||
| GDF5 | 601146 | Du Pan syndrome | AR |
| Brachydactyly, type C | AD | ||
| Osteoarthritis-5 | - | ||
| Multiple synostoses syndrome 2 | AD | ||
| Chondrodysplasia, Grebe type | AR | ||
| Brachydactyly, type A1, C | AD, AR | ||
| ?Acromesomelic dysplasia, Hunter-Thompson type | AR | ||
| Brachydactyly, type A2 | AD | ||
| Symphalangism, proximal, 1B | AD | ||
| GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
| GHR | 600946 | Hypercholesterolemia, familial, modifier of | AD, AR |
| Laron dwarfism | AR | ||
| Growth hormone insensitivity, partial | AD | ||
| Increased responsiveness to growth hormone | AD | ||
| GLA | 300644 | Fabry disease | XL |
| Fabry disease, cardiac variant | XL | ||
| GLI2 | 165230 | Holoprosencephaly 9 | AD |
| Culler-Jones syndrome | AD | ||
| GLI3 | 165240 | Pallister-Hall syndrome | AD |
| Polydactyly, preaxial, type IV | AD | ||
| Polydactyly, postaxial, types A1 and B | AD | ||
| Greig cephalopolysyndactyly syndrome | AD | ||
| GLIS2 | 608539 | Nephronophthisis 7 | - |
| GLIS3 | 610192 | Diabetes mellitus, neonatal, with congenital hypothyroidism | AR |
| GNA11 | 139313 | Hypocalciuric hypercalcemia, type II | AD |
| Hypocalcemia, autosomal dominant 2 | AD | ||
| GNAS | 139320 | Pseudohypoparathyroidism Ic | AD |
| Osseous heteroplasia, progressive | AD | ||
| Pseudopseudohypoparathyroidism | AD | ||
| Pseudohypoparathyroidism Ia | AD | ||
| Pseudohypoparathyroidism Ib | AD | ||
| Pituitary adenoma 3, multiple types, somatic | - | ||
| ACTH-independent macronodular adrenal hyperplasia | SM | ||
| McCune-Albright syndrome, somatic, mosaic | - | ||
| GNPAT | 602744 | Rhizomelic chondrodysplasia punctata, type 2 | AR |
| GNRH1 | 152760 | ?Hypogonadotropic hypogonadism 12 with or without anosmia | AR |
| GNRHR | 138850 | Hypogonadotropic hypogonadism 7 without anosmia | AR |
| GPC3 | 300037 | Simpson-Golabi-Behmel syndrome, type 1 | XLR |
| Wilms tumor, somatic | - | ||
| GPC6 | 604404 | Omodysplasia 1 | AR |
| GREB1L | 617782 | Deafness, autosomal dominant 80 | AD |
| Renal hypodysplasia/aplasia 3 | AD | ||
| GRIP1 | 604597 | Fraser syndrome 3 | AR |
| GUCY2D | 600179 | Cone-rod dystrophy 6 | AD, AR |
| Leber congenital amaurosis 1 | AR | ||
| Night blindness, congenital stationary, type 1I | AR | ||
| ?Choroidal dystrophy, central areolar 1 | AD | ||
| HAAO | 604521 | Vertebral, cardiac, renal, and limb defects syndrome 1 | AR |
| HAMP | 606464 | Hemochromatosis, type 2B | AR |
| HESX1 | 601802 | Septooptic dysplasia | AD, AR |
| Pituitary hormone deficiency, combined, 5 | AD, AR | ||
| Growth hormone deficiency with pituitary anomalies | AD, AR | ||
| HEXA | 606869 | Tay-Sachs disease | AR |
| [Hex A pseudodeficiency] | AR | ||
| GM2-gangliosidosis, several forms | AR | ||
| HFE | 613609 | Porphyria variegata, susceptibility to | AD |
| Alzheimer disease, susceptibility to | AD | ||
| Hemochromatosis | AR | ||
| [Transferrin serum level QTL2] | - | ||
| Porphyria cutanea tarda, susceptibility to | AD, AR | ||
| Microvascular complications of diabetes 7 | - | ||
| HNF1B | 189907 | Renal cysts and diabetes syndrome | AD |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Renal cell carcinoma | - | ||
| HNF4A | 600281 | Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | AD |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| MODY, type I | AD | ||
| HOXA13 | 142959 | ?Guttmacher syndrome | AD |
| Hand-foot-uterus syndrome | AD | ||
| HOXD13 | 142989 | Syndactyly, type V | AD |
| ?Brachydactyly-syndactyly syndrome | - | ||
| Brachydactyly, type D | AD | ||
| Synpolydactyly 1 | AD | ||
| Brachydactyly, type E | AD | ||
| HPSE2 | 613469 | Urofacial syndrome 1 | AR |
| HS6ST1 | 604846 | Hypogonadotropic hypogonadism 15 with or without anosmia | AD |
| HSD11B2 | 614232 | Apparent mineralocorticoid excess | AR |
| HSD3B7 | 607764 | Bile acid synthesis defect, congenital, 1 | AR |
| HSPG2 | 142461 | Schwartz-Jampel syndrome, type 1 | AR |
| Dyssegmental dysplasia, Silverman-Handmaker type | AR | ||
| HYDIN | 610812 | Ciliary dyskinesia, primary, 5 | AR |
| HYLS1 | 610693 | Hydrolethalus syndrome | AR |
| IFITM5 | 614757 | Osteogenesis imperfecta, type V | AD |
| IFT122 | 606045 | Cranioectodermal dysplasia 1 | AR |
| IFT140 | 614620 | Retinitis pigmentosa 80 | AR |
| Short-rib thoracic dysplasia 9 with or without polydactyly | AR | ||
| IFT172 | 607386 | Retinitis pigmentosa 71 | AR |
| Bardet-Biedl syndrome 20 | AR | ||
| Short-rib thoracic dysplasia 10 with or without polydactyly | AR | ||
| IFT27 | 615870 | ?Bardet-Biedl syndrome 19 | AR |
| IFT43 | 614068 | ?Cranioectodermal dysplasia 3 | AR |
| Short-rib thoracic dysplasia 18 with polydactyly | AR | ||
| ?Retinitis pigmentosa 81 | AR | ||
| IFT80 | 611177 | Short-rib thoracic dysplasia 2 with or without polydactyly | AR |
| IFT81 | 605489 | Short-rib thoracic dysplasia 19 with or without polydactyly | AR |
| IHH | 600726 | Brachydactyly, type A1 | AD |
| Acrocapitofemoral dysplasia | AR | ||
| IL17RD | 606807 | Hypogonadotropic hypogonadism 18 with or without anosmia | AD, AR, DD |
| IMPDH1 | 146690 | Leber congenital amaurosis 11 | AD |
| Retinitis pigmentosa 10 | AD | ||
| INF2 | 610982 | Glomerulosclerosis, focal segmental, 5 | - |
| Charcot-Marie-Tooth disease, dominant intermediate E | AD | ||
| INPP5E | 613037 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
| Joubert syndrome 1 | AR | ||
| INPPL1 | 600829 | Opsismodysplasia | AR |
| INVS | 243305 | Nephronophthisis 2, infantile | AR |
| IQCB1 | 609237 | Senior-Loken syndrome 5 | AR |
| ITGA3 | 605025 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | AR |
| ITGA8 | 604063 | Renal hypodysplasia/aplasia 1 | AR |
| JAG1 | 601920 | Alagille syndrome 1 | AD |
| Charcot-Marie-Tooth disease, axonal, type 2HH | AD | ||
| ?Deafness, congenital heart defects, and posterior embryotoxon | AD | ||
| Tetralogy of Fallot | AD | ||
| KANK2 | 614610 | Nephrotic syndrome, type 16 | AR |
| Palmoplantar keratoderma and woolly hair | AR | ||
| KCNJ1 | 600359 | Bartter syndrome, type 2 | AR |
| KCNJ10 | 602208 | Enlarged vestibular aqueduct, digenic | AR |
| SESAME syndrome | AR | ||
| KCNJ13 | 603208 | Snowflake vitreoretinal degeneration | AD |
| Leber congenital amaurosis 16 | AR | ||
| KCNJ5 | 600734 | Hyperaldosteronism, familial, type III | AD |
| Long QT syndrome 13 | AD | ||
| KDM6A | 300128 | Kabuki syndrome 2 | XLD |
| KIAA0586 | 610178 | Joubert syndrome 23 | AR |
| Short-rib thoracic dysplasia 14 with polydactyly | AR | ||
| KIF14 | 611279 | ?Meckel syndrome 12 | AR |
| Microcephaly 20, primary, autosomal recessive | AR | ||
| KIF22 | 603213 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | AD |
| KIF7 | 611254 | Joubert syndrome 12 | AR |
| ?Hydrolethalus syndrome 2 | AR | ||
| ?Al-Gazali-Bakalinova syndrome | AR | ||
| Acrocallosal syndrome | AR | ||
| KISS1 | 603286 | ?Hypogonadotropic hypogonadism 13 with or without anosmia | AR |
| KISS1R | 604161 | ?Precocious puberty, central, 1 | AD |
| Hypogonadotropic hypogonadism 8 with or without anosmia | AR | ||
| KLHL3 | 605775 | Pseudohypoaldosteronism, type IID | AD, AR |
| KMT2D | 602113 | Kabuki syndrome 1 | AD |
| KYNU | 605197 | ?Hydroxykynureninuria | AR |
| Vertebral, cardiac, renal, and limb defects syndrome 2 | AR | ||
| LAGE3 | 300060 | Galloway-Mowat syndrome 2, X-linked | XLR |
| LAMB2 | 150325 | Nephrotic syndrome, type 5, with or without ocular abnormalities | - |
| Pierson syndrome | AR | ||
| LBR | 600024 | ?Reynolds syndrome | AD |
| Greenberg skeletal dysplasia | AR | ||
| Pelger-Huet anomaly | AD | ||
| Pelger-Huet anomaly with mild skeletal anomalies | - | ||
| LCA5 | 611408 | Leber congenital amaurosis 5 | AR |
| LCAT | 606967 | Norum disease | AR |
| Fish-eye disease | AR | ||
| LCT | 603202 | Lactase deficiency, congenital | AR |
| LEP | 164160 | Obesity, morbid, due to leptin deficiency | AR |
| LEPR | 601007 | Obesity, morbid, due to leptin receptor deficiency | AR |
| LHB | 152780 | Hypogonadotropic hypogonadism 23 with or without anosmia | AR |
| LHX3 | 600577 | Pituitary hormone deficiency, combined, 3 | AR |
| LHX4 | 602146 | Pituitary hormone deficiency, combined, 4 | AD |
| LIFR | 151443 | Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome | AR |
| LMF1 | 611761 | Lipase deficiency, combined | AR |
| LMX1B | 602575 | Nail-patella syndrome | AD |
| Focal segmental glomerulosclerosis 10 | AD | ||
| LRAT | 604863 | Leber congenital amaurosis 14 | AR |
| Retinal dystrophy, early-onset severe | AR | ||
| Retinitis pigmentosa, juvenile | AR | ||
| LRIG2 | 608869 | Urofacial syndrome 2 | AR |
| LRP4 | 604270 | ?Myasthenic syndrome, congenital, 17 | AR |
| Cenani-Lenz syndactyly syndrome | AR | ||
| Sclerosteosis 2 | AD, AR | ||
| LRP5 | 603506 | van Buchem disease, type 2 | - |
| Osteosclerosis | AD | ||
| Osteoporosis | AD | ||
| [Bone mineral density variability 1] | AD | ||
| Osteopetrosis, autosomal dominant 1 | AD | ||
| Polycystic liver disease 4 with or without kidney cysts | AD | ||
| Osteoporosis-pseudoglioma syndrome | AR | ||
| Hyperostosis, endosteal | AD | ||
| Exudative vitreoretinopathy 4 | AD, AR | ||
| LZTFL1 | 606568 | Bardet-Biedl syndrome 17 | AR |
| MAFB | 608968 | Duane retraction syndrome 3 | AD |
| Multicentric carpotarsal osteolysis syndrome | AD | ||
| MAGI2 | 606382 | Nephrotic syndrome, type 15 | AR |
| MAPKBP1 | 616786 | Nephronophthisis 20 | AR |
| MATN3 | 602109 | ?Spondyloepimetaphyseal dysplasia, Borochowitz Cormier-Daire type | AR |
| Epiphyseal dysplasia, multiple, 5 | AD | ||
| Osteoarthritis susceptibility 2 | AD | ||
| MCEE | 608419 | Methylmalonyl-CoA epimerase deficiency | AR |
| MERTK | 604705 | Retinitis pigmentosa 38 | AR |
| MESP2 | 605195 | Spondylocostal dysostosis 2, autosomal recessive | AR |
| MGP | 154870 | Keutel syndrome | AR |
| MKKS | 604896 | McKusick-Kaufman syndrome | AR |
| Bardet-Biedl syndrome 6 | AR | ||
| MKS1 | 609883 | Bardet-Biedl syndrome 13 | AR |
| Joubert syndrome 28 | AR | ||
| Meckel syndrome 1 | AR | ||
| MMAA | 607481 | Methylmalonic aciduria, vitamin B12-responsive | AR |
| MMAB | 607568 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | AR |
| MMADHC | 611935 | Methylmalonic aciduria and homocystinuria, cblD type | AR |
| Methylmalonic aciduria, cblD type, variant 2 | AR | ||
| Homocystinuria, cblD type, variant 1 | AR | ||
| MMP13 | 600108 | Metaphyseal anadysplasia 1 | AD |
| Metaphyseal dysplasia, Spahr type | AR | ||
| ?Spondyloepimetaphyseal dysplasia, Missouri type | AD | ||
| MMP21 | 608416 | Heterotaxy, visceral, 7, autosomal | AR |
| MMP9 | 120361 | Metaphyseal anadysplasia 2 | - |
| MMUT | 609058 | Methylmalonic aciduria, mut(0) type | AR |
| MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE | AR |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | AR | ||
| MUC1 | 158340 | Medullary cystic kidney disease 1 | AD |
| MYH9 | 160775 | Deafness, autosomal dominant 17 | AD |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | AD | ||
| MYO1E | - | Glomerulosclerosis, focal segmental, 6 | AR |
| MYO5B | 606540 | Microvillus inclusion disease | AR |
| Cholestasis, progressive familial intrahepatic, 10 | - | ||
| MYO7A | 276903 | Deafness, autosomal dominant 11 | AD |
| Usher syndrome, type 1B | AR | ||
| Deafness, autosomal recessive 2 | AR | ||
| MYOCD | 606127 | Megabladder, congenital | AD |
| NADSYN1 | 608285 | Vertebral, cardiac, renal, and limb defects syndrome 3 | AR |
| NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly | AR |
| Infantile liver failure syndrome 2 | AR | ||
| NEK1 | 604588 | Short-rib thoracic dysplasia 6 with or without polydactyly | AR, DR |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | AD | ||
| NEK8 | 609799 | Renal-hepatic-pancreatic dysplasia 2 | AR |
| ?Nephronophthisis 9 | - | ||
| NEUROG3 | 604882 | Diarrhea 4, malabsorptive, congenital | AR |
| NIPBL | 608667 | Cornelia de Lange syndrome 1 | AD |
| NKX2-5 | 600584 | Hypoplastic left heart syndrome 2 | AD |
| Hypothyroidism, congenital nongoitrous, 5 | AD | ||
| Atrial septal defect 7, with or without AV conduction defects | AD | ||
| Conotruncal heart malformations, variable | - | ||
| Ventricular septal defect 3 | AD | ||
| Tetralogy of Fallot | AD | ||
| NKX3-2 | 602183 | Spondylo-megaepiphyseal-metaphyseal dysplasia | AR |
| NME8 | 607421 | Ciliary dyskinesia, primary, 6 | AR |
| NMNAT1 | 608700 | Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis | AR |
| Leber congenital amaurosis 9 | AR | ||
| NODAL | 601265 | Heterotaxy, visceral, 5 | AD |
| NOG | 602991 | Stapes ankylosis with broad thumbs and toes | AD |
| Brachydactyly, type B2 | AD | ||
| Tarsal-carpal coalition syndrome | AD | ||
| Multiple synostoses syndrome 1 | AD | ||
| Symphalangism, proximal, 1A | AD | ||
| NOTCH2 | 600275 | Alagille syndrome 2 | AD |
| Hajdu-Cheney syndrome | AD | ||
| NPC1 | 607623 | Niemann-Pick disease, type C1 | AR |
| Niemann-Pick disease, type D | AR | ||
| NPC2 | 601015 | Niemann-pick disease, type C2 | AR |
| NPHP1 | 607100 | Joubert syndrome 4 | AR |
| Nephronophthisis 1, juvenile | AR | ||
| Senior-Loken syndrome-1 | AR | ||
| NPHP3 | 608002 | Nephronophthisis 3 | AR |
| Meckel syndrome 7 | AR | ||
| Renal-hepatic-pancreatic dysplasia 1 | AR | ||
| NPHP4 | 607215 | Senior-Loken syndrome 4 | AR |
| Nephronophthisis 4 | AR | ||
| NPHS1 | 602716 | Nephrotic syndrome, type 1 | AR |
| NPHS2 | 604766 | Nephrotic syndrome, type 2 | AR |
| NPR2 | 108961 | Acromesomelic dysplasia, Maroteaux type | AR |
| Short stature with nonspecific skeletal abnormalities | AD | ||
| Epiphyseal chondrodysplasia, Miura type | AD | ||
| NR0B1 | - | Adrenal hypoplasia, congenital | XLR |
| 46XY sex reversal 2, dosage-sensitive | XL | ||
| NR0B2 | 604630 | Obesity, mild, early-onset | AD, AR, MF |
| NR1H4 | 603826 | Cholestasis, progressive familial intrahepatic, 5 | AR |
| NR3C2 | 600983 | Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy | - |
| Pseudohypoaldosteronism type I, autosomal dominant | AD | ||
| NSDHL | 300275 | CK syndrome | XLR |
| CHILD syndrome | XLD | ||
| NSMF | - | Hypogonadotropic hypogonadism 9 with or without anosmia | AD |
| NUP107 | 607617 | Galloway-Mowat syndrome 7 | AR |
| Nephrotic syndrome, type 11 | AR | ||
| ?Ovarian dysgenesis 6 | AR | ||
| NUP93 | 614351 | Nephrotic syndrome, type 12 | AR |
| OBSL1 | 610991 | 3-M syndrome 2 | AR |
| OCRL | - | Lowe syndrome | XLR |
| Dent disease 2 | XLR | ||
| ODAD1 | 615038 | Ciliary dyskinesia, primary, 20 | AR |
| ODAD2 | 615408 | Ciliary dyskinesia, primary, 23 | AR |
| ODAD3 | 615956 | Ciliary dyskinesia, primary, 30 | AR |
| OFD1 | 300170 | Joubert syndrome 10 | XLR |
| Simpson-Golabi-Behmel syndrome, type 2 | XLR | ||
| ?Retinitis pigmentosa 23 | XLR | ||
| Orofaciodigital syndrome I | XLD | ||
| OSGEP | 610107 | Galloway-Mowat syndrome 3 | AR |
| OTX2 | 600037 | Retinal dystrophy, early-onset, with or without pituitary dysfunction | AD |
| Microphthalmia, syndromic 5 | AD | ||
| Pituitary hormone deficiency, combined, 6 | AD | ||
| P3H1 | 610339 | Osteogenesis imperfecta, type VIII | AR |
| PAPSS2 | 603005 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes | AR |
| PAX2 | 167409 | Glomerulosclerosis, focal segmental, 7 | AD |
| Papillorenal syndrome | AD | ||
| PBX1 | 176310 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | AD |
| PCSK1 | 162150 | Obesity with impaired prohormone processing | AR |
| Obesity, susceptibility to, BMIQ12 | - | ||
| PDE4D | 600129 | Acrodysostosis 2, with or without hormone resistance | AD |
| PDE6D | 602676 | Joubert syndrome 22 | AR |
| PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
| PEX1 | 602136 | Peroxisome biogenesis disorder 1A (Zellweger) | AR |
| Peroxisome biogenesis disorder 1B (NALD/IRD) | AR | ||
| Heimler syndrome 1 | AR | ||
| PEX10 | 602859 | Peroxisome biogenesis disorder 6A (Zellweger) | AR |
| Peroxisome biogenesis disorder 6B | AR | ||
| PEX12 | 601758 | Peroxisome biogenesis disorder 3B | AR |
| Peroxisome biogenesis disorder 3A (Zellweger) | AR | ||
| PEX2 | 170993 | Peroxisome biogenesis disorder 5B | AR |
| Peroxisome biogenesis disorder 5A (Zellweger) | AR | ||
| PEX26 | 608666 | Peroxisome biogenesis disorder 7A (Zellweger) | AR |
| Peroxisome biogenesis disorder 7B | AR | ||
| PEX5 | 600414 | Rhizomelic chondrodysplasia punctata, type 5 | AR |
| Peroxisome biogenesis disorder 2B | AR | ||
| Peroxisome biogenesis disorder 2A (Zellweger) | AR | ||
| PEX6 | - | Peroxisome biogenesis disorder 4B | AD, AR |
| Peroxisome biogenesis disorder 4A (Zellweger) | AR | ||
| Heimler syndrome 2 | AR | ||
| PEX7 | 601757 | Peroxisome biogenesis disorder 9B | AR |
| Rhizomelic chondrodysplasia punctata, type 1 | AR | ||
| PHEX | - | Hypophosphatemic rickets, X-linked dominant | XLD |
| PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
| PIBF1 | 607532 | Joubert syndrome 33 | AR |
| PKD1 | 601313 | Polycystic kidney disease 1 | AD |
| PKD1L1 | 609721 | Heterotaxy, visceral, 8, autosomal | AR |
| PKD2 | 173910 | Polycystic kidney disease 2 | AD |
| PKHD1 | 606702 | Polycystic kidney disease 4, with or without hepatic disease | AR |
| PLCE1 | 608414 | Nephrotic syndrome, type 3 | AR |
| PLOD2 | 601865 | Bruck syndrome 2 | AR |
| PMM2 | 601785 | Congenital disorder of glycosylation, type Ia | AR |
| PNPLA6 | 603197 | Spastic paraplegia 39, autosomal recessive | AR |
| Boucher-Neuhauser syndrome | AR | ||
| Oliver-McFarlane syndrome | AR | ||
| ?Laurence-Moon syndrome | AR | ||
| POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1 | AR |
| Progressive external ophthalmoplegia, autosomal dominant 1 | AD | ||
| Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) | AR | ||
| Mitochondrial DNA depletion syndrome 4B (MNGIE type) | AR | ||
| Mitochondrial DNA depletion syndrome 4A (Alpers type) | AR | ||
| POLR3B | 614366 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | AR |
| Charcot-Marie-Tooth disease, demyelinating, type 1I | AD | ||
| POMC | 176830 | Obesity, adrenal insufficiency, and red hair due to POMC deficiency | AR |
| Obesity, early-onset, susceptibility to | AD, AR, MF | ||
| POU1F1 | 173110 | Pituitary hormone deficiency, combined, 1 | AD, AR |
| PPARG | - | Carotid intimal medial thickness 1 | - |
| Obesity, severe | AD, AR, MF | ||
| Lipodystrophy, familial partial, type 3 | AD | ||
| Diabetes, type 2 | AD | ||
| Insulin resistance, severe, digenic | AD | ||
| PPIB | 123841 | Osteogenesis imperfecta, type IX | AR |
| PRKAR1A | 188830 | Myxoma, intracardiac | AD |
| Pigmented nodular adrenocortical disease, primary, 1 | AD | ||
| Carney complex, type 1 | AD | ||
| Acrodysostosis 1, with or without hormone resistance | AD | ||
| PRKCSH | 177060 | Polycystic liver disease 1 | AD |
| PROK2 | 607002 | Hypogonadotropic hypogonadism 4 with or without anosmia | AD |
| PROKR2 | 607123 | Hypogonadotropic hypogonadism 3 with or without anosmia | AD |
| PROM1 | 604365 | Cone-rod dystrophy 12 | AD, AR |
| Macular dystrophy, retinal, 2 | AD | ||
| Retinitis pigmentosa 41 | AR | ||
| Stargardt disease 4 | AD | ||
| PROP1 | 601538 | Pituitary hormone deficiency, combined, 2 | AR |
| PRPH2 | 179605 | Retinitis pigmentosa 7 and digenic form | AD, AR, DD |
| Retinitis punctata albescens | AD, AR | ||
| Choroidal dystrophy, central areolar 2 | AD | ||
| Macular dystrophy, patterned, 1 | AD | ||
| Macular dystrophy, vitelliform, 3 | AD | ||
| Leber congenital amaurosis 18 | AD, AR, DD | ||
| PTH1R | 168468 | Chondrodysplasia, Blomstrand type | AR |
| Failure of tooth eruption, primary | AD | ||
| Eiken syndrome | AR | ||
| Metaphyseal chondrodysplasia, Murk Jansen type | AD | ||
| PTHLH | 168470 | Brachydactyly, type E2 | AD |
| PTPRO | 600579 | Nephrotic syndrome, type 6 | AR |
| RBBP8 | 604124 | Seckel syndrome 2 | AR |
| Jawad syndrome | AR | ||
| RD3 | 180040 | Leber congenital amaurosis 12 | AR |
| RDH12 | 608830 | Leber congenital amaurosis 13 | AD, AR |
| RDH5 | 601617 | Fundus albipunctatus | AD, AR |
| REN | 179820 | Hyperuricemic nephropathy, familial juvenile 2 | AD |
| Renal tubular dysgenesis | AR | ||
| RET | 164761 | Hirschsprung disease, susceptibility to, 1 | AD |
| Multiple endocrine neoplasia IIA | AD | ||
| Medullary thyroid carcinoma | AD | ||
| Pheochromocytoma | AD | ||
| Multiple endocrine neoplasia IIB | AD | ||
| Hirschsprung disease, protection against | AD | ||
| Central hypoventilation syndrome, congenital | AD | ||
| RHO | 180380 | Retinitis punctata albescens | AD, AR |
| Retinitis pigmentosa 4, autosomal dominant or recessive | AD, AR | ||
| Night blindness, congenital stationary, autosomal dominant 1 | - | ||
| RLBP1 | 180090 | Newfoundland rod-cone dystrophy | - |
| Fundus albipunctatus | AD, AR | ||
| Retinitis punctata albescens | AD, AR | ||
| Bothnia retinal dystrophy | AR | ||
| RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
| RNF216 | 609948 | Cerebellar ataxia and hypogonadotropic hypogonadism | AR |
| ROBO2 | 602431 | Vesicoureteral reflux 2 | AD |
| ROR2 | 602337 | Brachydactyly, type B1 | AD |
| Robinow syndrome, autosomal recessive | AR | ||
| RPE65 | 180069 | Leber congenital amaurosis 2 | AR |
| Retinitis pigmentosa 20 | AR | ||
| Retinitis pigmentosa 87 with choroidal involvement | AD | ||
| RPGRIP1 | 605446 | Cone-rod dystrophy 13 | AR |
| Leber congenital amaurosis 6 | AR | ||
| RPGRIP1L | 610937 | Joubert syndrome 7 | AR |
| ?COACH syndrome 3 | AR | ||
| Meckel syndrome 5 | AR | ||
| RRM2B | 604712 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | AR |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | AD | ||
| Mitochondrial DNA depletion syndrome 8B (MNGIE type) | AR | ||
| Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | AR | ||
| RSPH1 | 609314 | Ciliary dyskinesia, primary, 24 | AR |
| RSPH4A | 612647 | Ciliary dyskinesia, primary, 11 | - |
| RSPH9 | 612648 | Ciliary dyskinesia, primary, 12 | - |
| RUNX2 | 600211 | Cleidocranial dysplasia, forme fruste, with brachydactyly | AD |
| Cleidocranial dysplasia | AD | ||
| Cleidocranial dysplasia, forme fruste, dental anomalies only | AD | ||
| Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | AD | ||
| SALL1 | 602218 | Townes-Brocks branchiootorenal-like syndrome | AD |
| Townes-Brocks syndrome 1 | AD | ||
| SALL4 | 607343 | IVIC syndrome | AD |
| Duane-radial ray syndrome | AD | ||
| SBDS | 607444 | Aplastic anemia, susceptibility to | - |
| Shwachman-Diamond syndrome | AR | ||
| SCARB2 | 602257 | Epilepsy, progressive myoclonic 4, with or without renal failure | AR |
| SCNN1A | 600228 | Pseudohypoaldosteronism, type I | AR |
| ?Liddle syndrome 3 | AD | ||
| Bronchiectasis with or without elevated sweat chloride 2 | AD | ||
| SCNN1B | 600760 | Bronchiectasis with or without elevated sweat chloride 1 | AD |
| Pseudohypoaldosteronism, type I | AR | ||
| Liddle syndrome 1 | AD | ||
| Pseudohypoaldosteronism, type IB2, autosomal recessive | - | ||
| SCNN1G | 600761 | Pseudohypoaldosteronism, type I | AR |
| Liddle syndrome 2 | AD | ||
| Bronchiectasis with or without elevated sweat chloride 3 | AD | ||
| Pseudohypoaldosteronism, type IB3, autosomal recessive | - | ||
| SDCCAG8 | 613524 | Bardet-Biedl syndrome 16 | AR |
| Senior-Loken syndrome 7 | AR | ||
| SEC61A1 | 609213 | Hyperuricemic nephropathy, familial juvenile, 4 | AD |
| SEC63 | 608648 | Polycystic liver disease 2 | AD |
| SEMA3A | 603961 | Hypogonadotropic hypogonadism 16 with or without anosmia | AD |
| SERPINA1 | 107400 | Hemorrhagic diathesis due to antithrombin Pittsburgh | AR |
| Emphysema-cirrhosis, due to AAT deficiency | AR | ||
| Emphysema due to AAT deficiency | AR | ||
| SERPINF1 | 172860 | Osteogenesis imperfecta, type VI | AR |
| SERPINH1 | 600943 | Preterm premature rupture of the membranes, susceptibility to | - |
| Osteogenesis imperfecta, type X | AR | ||
| SGPL1 | 603729 | Nephrotic syndrome, type 14 | AR |
| SH3PXD2B | 613293 | Frank-ter Haar syndrome | AR |
| SIX1 | 601205 | Deafness, autosomal dominant 23 | AD |
| Branchiootic syndrome 3 | AD | ||
| SIX5 | 600963 | Branchiootorenal syndrome 2 | - |
| SLC12A1 | 600839 | Bartter syndrome, type 1 | AR |
| SLC12A3 | 600968 | Gitelman syndrome | AR |
| SLC25A13 | 603859 | Citrullinemia, type II, neonatal-onset | AR |
| Citrullinemia, adult-onset type II | AR | ||
| SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| SLC26A2 | 606718 | Diastrophic dysplasia, broad bone-platyspondylic variant | AR |
| Achondrogenesis Ib | AR | ||
| Epiphyseal dysplasia, multiple, 4 | AR | ||
| De la Chapelle dysplasia | AR | ||
| Diastrophic dysplasia | AR | ||
| Atelosteogenesis, type II | AR | ||
| SLC26A3 | 126650 | Diarrhea 1, secretory chloride, congenital | AR |
| SLC2A2 | 138160 | Fanconi-Bickel syndrome | AR |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| SLC34A1 | 182309 | Nephrolithiasis/osteoporosis, hypophosphatemic, 1 | AD |
| ?Fanconi renotubular syndrome 2 | AR | ||
| Hypercalcemia, infantile, 2 | AR | ||
| SLC34A3 | 609826 | Hypophosphatemic rickets with hypercalciuria | AR |
| SLC35D1 | 610804 | Schneckenbecken dysplasia | AR |
| SLC4A1 | 109270 | [Blood group, Wright] | - |
| Distal renal tubular acidosis 1 | AD | ||
| Ovalocytosis, SA type | AD | ||
| [Malaria, resistance to] | - | ||
| [Blood group, Swann] | - | ||
| [Blood group, Froese] | - | ||
| [Blood group, Waldner] | - | ||
| Cryohydrocytosis | AD | ||
| [Blood group, Diego] | - | ||
| Distal renal tubular acidosis 4 with hemolytic anemia | AR | ||
| Spherocytosis, type 4 | AD | ||
| SLC4A4 | 603345 | Renal tubular acidosis, proximal, with ocular abnormalities | AR |
| SLCO1B1 | 604843 | Hyperbilirubinemia, Rotor type, digenic | DR |
| SLCO1B3 | 605495 | Hyperbilirubinemia, Rotor type, digenic | DR |
| SMARCAL1 | 606622 | Schimke immunoosseous dysplasia | AR |
| SMPD1 | 607608 | Niemann-Pick disease, type A | AR |
| Niemann-Pick disease, type B | AR | ||
| SOX10 | 602229 | Waardenburg syndrome, type 4C | AD |
| PCWH syndrome | AD | ||
| Waardenburg syndrome, type 2E, with or without neurologic involvement | AD | ||
| SOX11 | 600898 | Coffin-Siris syndrome 9 | AD |
| SOX17 | 610928 | Vesicoureteral reflux 3 | AD |
| SOX2 | 184429 | Microphthalmia, syndromic 3 | AD |
| Optic nerve hypoplasia and abnormalities of the central nervous system | AD | ||
| SOX3 | 313430 | Panhypopituitarism, X-linked | XL |
| Mental retardation, X-linked, with isolated growth hormone deficiency | - | ||
| SOX9 | 608160 | Acampomelic campomelic dysplasia | AD |
| Campomelic dysplasia | AD | ||
| Campomelic dysplasia with autosomal sex reversal | AD | ||
| SPAG1 | 603395 | Ciliary dyskinesia, primary, 28 | AR |
| SPATA7 | 609868 | Retinitis pigmentosa, juvenile, autosomal recessive | - |
| Leber congenital amaurosis 3 | - | ||
| SPINT2 | 605124 | Diarrhea 3, secretory sodium, congenital, syndromic | AR |
| SPRY4 | 607984 | Hypogonadotropic hypogonadism 17 with or without anosmia | AD |
| STRA6 | 610745 | Microphthalmia, isolated, with coloboma 8 | AR |
| Microphthalmia, syndromic 9 | AR | ||
| SUFU | 607035 | Meningioma, familial, susceptibility to | AD |
| Basal cell nevus syndrome | AD | ||
| Medulloblastoma, desmoplastic | AD, AR, SM | ||
| Joubert syndrome 32 | AR | ||
| TAC3 | 162330 | Hypogonadotropic hypogonadism 10 with or without anosmia | AR |
| TACR3 | 162332 | Hypogonadotropic hypogonadism 11 with or without anosmia | AR |
| TBX15 | 604127 | Cousin syndrome | AR |
| TBX18 | 604613 | Congenital anomalies of kidney and urinary tract 2 | AD |
| TBX3 | 601621 | Ulnar-mammary syndrome | AD |
| TBX5 | 601620 | Holt-Oram syndrome | AD |
| TCTN1 | 609863 | Joubert syndrome 13 | AR |
| TCTN2 | 613846 | ?Meckel syndrome 8 | AR |
| Joubert syndrome 24 | AR | ||
| TCTN3 | 613847 | Joubert syndrome 18 | AR |
| Orofaciodigital syndrome IV | AR | ||
| TFR2 | 604720 | Hemochromatosis, type 3 | AR |
| TJP2 | 607709 | Hypercholanemia, familial | AR |
| Cholestasis, progressive familial intrahepatic 4 | AR | ||
| TMEM107 | 616183 | Meckel syndrome 13 | AR |
| ?Joubert syndrome 29 | AR | ||
| Orofaciodigital syndrome XVI | AR | ||
| TMEM138 | 614459 | Joubert syndrome 16 | AR |
| TMEM216 | 613277 | Meckel syndrome 2 | AR |
| Joubert syndrome 2 | AR | ||
| TMEM231 | 614949 | Joubert syndrome 20 | AR |
| Meckel syndrome 11 | AR | ||
| TMEM237 | 614423 | Joubert syndrome 14 | AR |
| TMEM67 | 609884 | COACH syndrome 1 | AR |
| ?RHYNS syndrome | AR | ||
| Meckel syndrome 3 | AR | ||
| Joubert syndrome 6 | AR | ||
| Bardet-Biedl syndrome 14, modifier of | AR | ||
| Nephronophthisis 11 | AR | ||
| TNFRSF11B | 602643 | Paget disease of bone 5, juvenile-onset | AR |
| TP53RK | 608679 | Galloway-Mowat syndrome 4 | AR |
| TPRKB | 608680 | Galloway-Mowat syndrome 5 | AR |
| TRAF3IP1 | 607380 | Senior-Loken syndrome 9 | AR |
| TRIM32 | 602290 | Muscular dystrophy, limb-girdle, autosomal recessive 8 | AR |
| ?Bardet-Biedl syndrome 11 | AR | ||
| TRIP11 | 604505 | Achondrogenesis, type IA | AR |
| Osteochondrodysplasia | AR | ||
| TRMU | 610230 | Liver failure, transient infantile | AR |
| Deafness, mitochondrial, modifier of | Mitochondrial | ||
| TRPC6 | 603652 | Glomerulosclerosis, focal segmental, 2 | AD |
| TRPS1 | 604386 | Trichorhinophalangeal syndrome, type I | AD |
| Trichorhinophalangeal syndrome, type III | AD | ||
| TRPV4 | 605427 | SED, Maroteaux type | AD |
| Spondylometaphyseal dysplasia, Kozlowski type | AD | ||
| Metatropic dysplasia | AD | ||
| Brachyolmia type 3 | AD | ||
| Neuronopathy, distal hereditary motor, type VIII | AD | ||
| [Sodium serum level QTL 1] | - | ||
| ?Avascular necrosis of femoral head, primary, 2 | AD | ||
| Scapuloperoneal spinal muscular atrophy | AD | ||
| Parastremmatic dwarfism | AD | ||
| Hereditary motor and sensory neuropathy, type IIc | AD | ||
| Digital arthropathy-brachydactyly, familial | AD | ||
| TSC1 | 605284 | Lymphangioleiomyomatosis | - |
| Focal cortical dysplasia, type II, somatic | - | ||
| Tuberous sclerosis-1 | AD | ||
| TSC2 | 191092 | ?Focal cortical dysplasia, type II, somatic | - |
| Lymphangioleiomyomatosis, somatic | - | ||
| Tuberous sclerosis-2 | AD | ||
| TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly | AR |
| Nephronophthisis 12 | AD, AR | ||
| TTC37 | 614589 | Trichohepatoenteric syndrome 1 | AR |
| TTC8 | - | Bardet-Biedl syndrome 8 | AR |
| ?Retinitis pigmentosa 51 | AR | ||
| TULP1 | 602280 | Retinitis pigmentosa 14 | AR |
| Leber congenital amaurosis 15 | AR | ||
| TXNDC15 | 617778 | Meckel syndrome 14 | - |
| UGT1A1 | 191740 | [Gilbert syndrome] | AR |
| Crigler-Najjar syndrome, type II | AR | ||
| Crigler-Najjar syndrome, type I | AR | ||
| Hyperbilirubinemia, familial transient neonatal | AD, AR | ||
| [Bilirubin, serum level of, QTL1] | - | ||
| UMOD | 191845 | Glomerulocystic kidney disease with hyperuricemia and isosthenuria | - |
| Hyperuricemic nephropathy, familial juvenile 1 | AD | ||
| Medullary cystic kidney disease 2 | - | ||
| VHL | 608537 | Pheochromocytoma | AD |
| von Hippel-Lindau syndrome | AD | ||
| Renal cell carcinoma, somatic | - | ||
| Erythrocytosis, familial, 2 | AR | ||
| VIPAS39 | 613401 | Arthrogryposis, renal dysfunction, and cholestasis 2 | AR |
| VPS33B | 608552 | Arthrogryposis, renal dysfunction, and cholestasis 1 | AR |
| Cholestasis, progressive familial intrahepatic, 12 | - | ||
| Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | - | ||
| WDR11 | 606417 | Hypogonadotropic hypogonadism 14 with or without anosmia | AD |
| WDR19 | 608151 | ?Cranioectodermal dysplasia 4 | AR |
| ?Short-rib thoracic dysplasia 5 with or without polydactyly | AR | ||
| Nephronophthisis 13 | AR | ||
| ?Spermatogenic failure 72 | - | ||
| Senior-Loken syndrome 8 | AR | ||
| WDR35 | 613602 | Cranioectodermal dysplasia 2 | AR |
| Short-rib thoracic dysplasia 7 with or without polydactyly | AR | ||
| WDR4 | 605924 | Microcephaly, growth deficiency, seizures, and brain malformations | AR |
| Galloway-Mowat syndrome 6 | AR | ||
| WDR73 | 616144 | Galloway-Mowat syndrome 1 | AR |
| WNK1 | 605232 | Neuropathy, hereditary sensory and autonomic, type II | AR |
| Pseudohypoaldosteronism, type IIC | AD | ||
| WNK4 | 601844 | Pseudohypoaldosteronism, type IIB | AD |
| WNT4 | 603490 | Mullerian aplasia and hyperandrogenism | AD |
| ?SERKAL syndrome | AR | ||
| WNT5A | 164975 | Robinow syndrome, autosomal dominant 1 | AD |
| WNT7A | 601570 | Fuhrmann syndrome | AR |
| Ulna and fibula, absence of, with severe limb deficiency | AR | ||
| WT1 | 607102 | Denys-Drash syndrome | AD, SM |
| Mesothelioma, somatic | - | ||
| Frasier syndrome | AD, SM | ||
| Meacham syndrome | AD | ||
| Wilms tumor, type 1 | AD, SM | ||
| Nephrotic syndrome, type 4 | AD | ||
| XPNPEP3 | 613553 | Nephronophthisis-like nephropathy 1 | AR |
| XYLT1 | - | Desbuquois dysplasia 2 | AR |
| Pseudoxanthoma elasticum, modifier of severity of | AR | ||
| ZIC3 | 300265 | VACTERL association, X-linked | XLR |
| Congenital heart defects, nonsyndromic, 1, X-linked | XLR | ||
| Heterotaxy, visceral, 1, X-linked | XLR | ||
| ZMYND10 | 607070 | Ciliary dyskinesia, primary, 22 | AR |
| ZNF423 | 604557 | Joubert syndrome 19 | AD, AR |
| Nephronophthisis 14 | AD, AR |
COMMON SYNDROMES AND DISORDERS COVERED
- Alport syndrome
- Bardet-Biedl syndrome
- Bartter syndrome
- Combined pituitary hormone deficiency
- Focal segmental glomerulosclerosis
- Heterotaxy syndrome
- Hypogonadotropic hypogonadism
- Intrahepatic cholestasis
- Joubert syndrome
- Kallmann syndrome
- Leber congenital amaurosis
- Meckel syndrome
- Nephronophthisis
- Nephrotic syndrome
- Neonatal mitochondrial hepatopathies
- Polycystic kidney disease
- Pseudohypoaldosteronism
- Primary ciliary dyskinesia
- Renal tubular acidosis
- Renal tubular dysgenesis
- Skeletal dysplasia
- Skeletal ciliopathy
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