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Disease Genes Table

Gene symbol Gene Name Disease
ER ARSE Arylsulfatse E Chondrodysplasia punctata X-linked recessive [MIM 302950]
ATL1 Atlastin 1 Neuropathy, hereditary sensory, type ID [MIM 613708]
CLN6 Ceroid lipofuscinosis, neuronal, 6 Ceoid lipofuscinosis 6 [MIM 601780]
CLN8 Ceroid lipofuscinosis, neuronal, 8 Ceoid lipofuscinosis 8 [MIM 600143]
CRTAP cartilage associated protein Osteogenesis imperfecta,[MIM 610682]
DHCR7 7-dehydrocholesterol reductase Smith-Lemli-Opitz syndrome [MIM 270400]
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N- GlcNAc-1-P transferase Congenital Disorders of Glycosylation [MIM 608093]
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit Congenital disorder of glycosylation, type Ie [MIM 608799]
EBP emopamil binding protein (sterol isomerase) Chondrodysplasia punctata [MIM 302960]
MPDU1 mannose-P-dolichol utilization defect 1 Congenital disorder of glycosylation, type If [MIM 609180]
MPI mannose phosphate isomerase Carbohydrate-deficient glycoprotein, type Ib [MIM 602579]
PIGA phosphatidylinositol glycan anchor biosynthesis, class A Paroxysmal nocturnal hemoglobinuria [MIM 300818]
PIGM phosphatidylinositol glycan anchor biosynthesis, class M Glycosylphosphatidylinositol deficiency [MIM 610293]
PLOD1 procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 Ehlers-Danlos syndrome, type VI [MIM 225400], Nevo syndrome [MIM 601451]
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 Bruck syndrome 2 [MIM 609220]
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 Lysyl hydroxylase 3 deficiency [MIM 612394]
PMM2 Phosphomannomutase 2 Congenital disorder of glycosylation, type Ia [MIM 212065]
REEP1 Receptor Expression-Enhancing Protein 1 Spastic paraplegia 31 [MIM 610250], Spastic paraplegia-3A [MIM 182600]
SAR1B SAR1 homolog B (S. cerevisiae) Chylomicron retention disease [MIM 246700]
SEC23A Sec23 homolog A (S. cerevisiae) Craniolenticulosutural dysplasia [MIM 607812]
SEC23B Sec23 homolog B (S. cerevisiae) Congenital dyserythropoietic anemia type II [MIM 224100]
SLC35D1 Solute carrier family 35, D1 (UDP-glucuronic acid/UDP-N-acetylgalactosamine transport Schneckenbecken dysplasia [MIM 269250]
SPAST Spastin Spastic paraplegia-4 [MIM 604277]
SPTLC1 serine palmitoyltransferase, long chain base subunit 1 Neuropathy, hereditary sensory and autonomic, type 1 [MIM 162400]
SUMF1 sulfatase modifying factor 1 Multiple sulfatase deficiency [MIM 272200]
TMEM15 dolichol kinase Congenital Disorders of Glycosylation [MIM 610768]
TRAPPC2 trafficking protein particle complex 2 Spondyloepiphyseal dysplasia tarda [MIM 313400]
Golgi ARFGEF2 ADP-ribosylation factor GEF 2 Periventricular heterotopia, microcephaly [MIM 608097]
ATP7A ATPase, Cu++ transporting, alpha polypeptide Menkes disease [MIM 309400], Occipital horn syndrome [MIM 304150]
ATP7B ATPase, Cu++ transporting, beta polypeptide Wilson disease [MIM 277900]
B3GALTL beta 1,3-galactosyltransferase-like Peters-plus syndrome [MIM 261540]
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 Congenital Disorders of Glycosylation [MIM 607091]
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) Ehlers-Danlos syndrome, progeroid form [MIM 130070]
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 Spondyloepiphyseal dysplasia, Omani type [MIM 143095]
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 Macular corneal dystrophy [MIM 217800]
COG1 component of oligomeric golgi complex 1 Congenital disorder glycosylation, type IIg [MIM 611209]
COG7 component of oligomeric golgi complex 7 Congenital disorder glycosylation, type IIe [MIM 608779]
COG8 component of oligomeric golgi complex 8 Congenital disorder glycosylation, type IIh [MIM 611182]
DYM dymedin Dyggve-Melchior-Clausen disease [MIM 223800], Smith-McCort dysplasia [MIM 607326]
FGD1 FYVE, RhoGEF PH domain containing 1 Aarskog-Scott syndrome [MIM 305400]
GALNT3 UDP-N-acetyl-alpha-D- GalNAc-transferase, T3 Tumoral calcinosis, hyperphosphatemic [MIM 211900]
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits Mucolipidosis III alpha/beta [MIM 252600], Mucolipidosis II alpha/beta [MIM 252500]
INPP5E Inositol polyphosphate-5-phosphatase, 72-KD Mental retardation, retinal dystrophy [MIM 610156], Joubert syndrome [MIM 213300]
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Spondylocostal dysostosis, [MIM 609813]
LMAN1 lectin, mannose-binding, 1 Combined factor V and VIII deficiency [MIM 227300]
MCFD2 multiple coagulation factor deficiency 2 Combined factor V and VIII deficiency [MIM 613625]
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase Carbohydrate-deficient glycoprotein syndrome, type II [MIM 212066]
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Spondyloepimetaphyseal dysplasia [MIM 612847]
POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase Muscle-eye-brain disease [MIM 253280]
POMT1 protein-O-mannosyltransferase 1 Walker-Warburg syndrome [MIM 236670], Muscular dystrophy, [MIM 236670]
POMT2 protein-O-mannosyltransferase 2 Walker-Warburg syndrome [MIM 236670]
PSEN1 presenilin 1 Alzheimer disease, [MIM 607822], Dementia, frontotemporal [MIM 600274], Pick disease [MIM 172700]
PSEN2 presenilin 2 (Alzheimer disease 4) Alzheimer disease-4 [MIM 606889]
SCYL1BP1 SCYL1-binding protein 1 Gerodermia osteodysplastica [MIM 231070]
SIAT9 SIALYLTRANSFERASE 9 AMISH Infantile Epilepsy Syndrome [MIM 609056]
SLC26A2 Solute carrier family 26 (sulfate transporter), member 2 Achondrogenesis type IB [600972]
STXBP2 syntaxin binding protein 2 Hemophagocytic lymphohistiocytosis, familial, 5
TRIP11 thyroid hormone receptor interactor 11 GMAP 210 Golgin Microtubue associated Protein Achondrogenesis type 1A [MIM 200600]
XYLT1 xylosyltransferase I Pseudoxanthoma elasticum, modifier of severity of [MIM 264800]
XYLT2 xylosyltransferase II Pseudoxanthoma elasticum, modifier of severity of [MIM 264800]
EN/LY AGA Glycosylasparaginase Aspartylglucosaminuria [MIM208400]
AP3B1 AP3 beta-subunit Hermansky Pudlak 2 [MIM 608233]
ARSA Arylsulfatase A Metachromatic leukodystrophy [MIM 607574]
ARSB N-acetylgalactosamine 4-sulfatase Maroteaux-Lamy MIM [253200]
ASAH1 Acid ceramidase Farber lipogranulomatosis [MIM 228000]
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 Mental retardation, X-linked, with epilepsy [MIM 300423]
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 Cutis laxa, autosomal recessive, type II [MIM 219200], Wrinkly skin syndrome [MIM 278250]
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 Renal tubular acidosis, distal, autosomal recessive [MIM 602722]
BIN1 bridging integrator 1, synaptophysin Myopathy centronuclear [MIM 255200]
BLOC1S3 BiogenesisLysosomalOrganellesComplex-1S3 Hermansky-Pudlak syndrome 8 [MIM 203300]
CLCN2 chloride channel 2 Epilepsy [MIM 607628]
CLCN5 chloride channel 5 Dent disease [MIM 300009]
CLCNKB chloride channel Kb Bartter syndrome, type 3 [MIM 607364]
CLN3 Ceroid lipofuscinosis, neuronal, 3 Ceoid lipofuscinosis 3 [MIM 204200]
CTNS cystinosis, nephropathic Cystinosis, [MIM 219800]
CTSA Cathepsin A Galactosialidosis [MIM 256540]
CTSC Cathepsin C Papillon-Lefevre syndrome [MIM 245000], Haim-Munk syndrome [MIM 245010]
CTSD Cathepsin D Ceroid lipofuscinosis, neuronal, 10 [MIM 610127]
CTSK Cathepsin K Pycnodysostosis [265800]
DTNBP1 dystrobrevin binding protein 1 Hermansky-Pudlak syndrome 7 [MIM 203300]
FGD4 FYVE, RhoGEF and PH domain containing Charcot-Marie-Tooth disease, type 4H [MIM 609311]
FIG4 FIG4 homolog (S. cerevisiae) Charcot-Marie-Tooth disease, type 4J [MIM 611228], Amyotrophic lateral sclerosis 11 [MIM 612577]
FUCA1 Fucosidase Fucosidosis [MIM 230000]
GAA alpha-glucosidase Pompe disease [MIM 232300]
GALC beta-galactosylceramidase Krabbe disease [MIM 245200]
GALNS galactosamine (N-acetyl)-6-sulfate sulfatase MPS IVA [MIM 253000]
GBA glucosidase, beta, acid Gaucher disease [MIM 230800]
GLA alpha-galactosidase Fabry disease [MIM 301500]
GLB1 beta -galactosidase GM1 gangliosidosis [MIM230500]
GM2A GM2 activator protein GM2 gangliosidosis [MIM272750]
GNS N-acetylglucosamine 6-sulfatase MPSIIID [MIM252940]
GUSB beta-glucuronidase MPSVII [MIM 253220]
HEXA beta-Hexosaminidase, alpha-subunit Tay-Sachs disease [MIM 272800]
HEXB beta-Hexosaminidase, beta-subunit Sandhoff disease [MIM 268800]
HGSNAT Acetyl-coA transferase MPSIIIC [MIM 252930]
HYAL1 Hyaluronidase MPSIX [MIM 601492]
IDS Iduronate sulfatase MPS II [MIM 309900]
IDUA alpha-iduronidase MPSI [MIM 607015]
LAMP-2 Lysosome-associated membrane protein 2 Danon disease [MIM 300257]
LIPA Acid lipase Wolman and cholesteryl ester storage storage disease [MIM 278000]
LYST lysosomal trafficking regulator Chediak-Higashi syndrome [MIM 214500]
MAN2B1 alpha-Mannosidase alpha-mannidosis [MIM248500]
MANBA beta -mannosidase beta-mannosidosis [MIM248510]
MCOLN1 Mucolipin 1 Mucolipidosis IV [MIM 252650]
GNPTAG UDP-N-acetylglucosamine phosphotransferase gamma-subunit Mucolipidosis III [MIM 252605]
MLPH Melanophilin Griscelli syndrome type 3 [MIM 609227]
MTM1 myotubularin 1 Myotubular myopathy, X-linked [MIM 310400]
MTMR2 myotubularin related protein 2 Charcot-Marie-Tooth disease, type 4B1 [MIM 601382]
MYO5A myosin VA (heavy chain 12, myoxin) Griscelli syndrome, type 1 [MIM 214450]
MYO5B myosin VB Microvillus inclusion disease [MIM 251850]
NAGA alpha-N-Acetylglucosaminidase Schindler [MIM 104170]
NAGLU N-acetylglucosaminidase MPSIIIB [MIM 252920]
NEU beta-sialidase Sialidosis [MIM 256550]
NPC1 Niemann-Pick disease type C I Niemann-Pick disease type C I [MIM 257220]
NPC2 Niemann-Pick disease type C I Niemann-Pick disease type C 2 [MIM 607625]
OCRL oculocerebrorenal syndrome of Lowe Lowe syndrome [MIM 309000], Dent 2 [MIM 300555]
PPT1 Tripeptidyl peptidase Ceroid lipofuscinosis 2 [MIM 600722]
PSAP Saposin C Gaucher disease [MIM 249900]
PSAP Prosaposin B Metachromatic leukodystrophy [MIM 249900]
RAB23 RAB23, member RAS oncogene family Carpenter syndrome [MIM 201000]
RAB27A RAB27A, member RAS oncogene family?* Griscelli syndrome, type 2 [MIM 607624]
SBF2 SET binding factor 2 Charcot-Marie-Tooth disease, type 4B2 [MIM 604563]
SGSH Heparan N-sulfatase MPSIIIA [MIM 252900]
SH3TC2 SH3 domain and tetratricopeptide repeats 2 Charcot-Marie-Tooth disease, type 4C [MIM 601596]
SLC17A5 Sialin Salla disease [MIM 604369]
SMPD1 Acid phingomyelinase Niemann-Pick type A and B [MIM 257200], [MIM 607616]
SNAP29 synaptosomal-associated protein, 29kDa Cerebral dysgenesis, neuropathy, ichthyosis, [MIM 609528]
SPG20 spastic paraplegia 20 (Troyer syndrome) Troyer syndrome [MIM 275900]
TPP1 Palmitoyl-protein thioesterase Ceorid lipofuscinosis 1 [MIM 607998], Periodontitis [MIM 170650]
TYR tyrosinase (oculocutaneous albinism IA) Albinism, oculocutaneous, [MIM 203100]
TYRP1 tyrosinase-related protein 1 Albinism, brown [MIM 203290]
MIT ABC7 ATP-binding cassette 7 Sideroblatic anemia [MIM 301310]
ATPAF2 ATP synthase, mitochondrial F1 complex assembly factor 2 Mitochondrial complex V deficiency [MIM 604273]
BCS1L BCS1, S. cervisae homolog-like Mitochondrial complex III deficiency [MIM 124000]
COX10 cytochrome c oxidase (COX) assembly protein 10 Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency [MIM 602125]
COX15 cytochrome c oxidase (COX) assembly protein 15 Leigh syndrome due to cytochrome c oxidase deficiency [MIM 256000]
DDP Translocase of inner mitochondrial membrane 8 Deafness Jensen syndrome [MIM 311150], Mohr-Tranebjaerg [MIM 304700]
DGUOK deoxyguanosine kinase Mitochondrial DNA depletion syndrome [MIM 251880], Metaphyseal dysplasia without hypotrichosis [MIM 250460]
ECGF1 Thymidine phosphorylase Mitochondrial DNA depletion syndrome 1 (MNGIE type) [MIM 603041]
ETHE1 ETHE1 Ethylmalonic encephalopathy [MIM 602473]
FRDA Frataxin Friederich ataxia [MIM 229300]
G4.5 Tafazzin Barth syndrome [MIM 302060]
GFM1 Mitochondrial elongation factor G1 Combined oxidative phophorylation deficiency 1 [MIM 609060]
LRPPRC Leucine-rich PPR motif-containing protein Leigh syndrome, French-Canadian type [MIM 220111]
MPV17 MPV17 MITOCHONDRIAL DNA DEPLETION Sybdrome 6 [MIM 256810]
NDUFAF2 NADH:ubiquinone oxidoreductase assembly factor 2 Mitochondrial complex I deficiency [MIM252010]
NDUFS1 NADH:ubiquinone oxidoreductase Fe-S protein 1 Mitochondrial complex I deficiency [MIM 252010]
NDUFS2 NADH:ubiquinone oxidoreductase Fe-S protein 2 Mitochondrial complex I deficiency [MIM 252010]
NDUFS3 NADH:ubiquinone oxidoreductase Fe-S protein 3 Mitochondrial complex I deficiency [MIM 252010]
NDUFS7 NADH:ubiquinone oxidoreductase Fe-S protein 7 Mitochondrial complex I deficiency [MIM 252010]
NDUFS8 NADH:ubiquinone oxidoreductase Fe-S protein 8 Mitochondrial complex I deficiency [MIM 252010]
NDUFV1 NADH:ubiquinone oxidoreductase flavoprotein 1 Mitochondrial complex I deficiency [MIM 252010]
NDUFV2 NADH:ubiquinone oxidoreductase flavoprotein 2 Mitochondrial complex I deficiency [MIM 251010]
PDHA Pyruvate dehydrogenase, subunit A Pyruvate dehydrogenase deficiency [MIM 312170]
POLG Polymerase, DNA, Gamma Mitochondrial DNA depletion syndrome 4A (Alpers type) [MIM 203700], Mitochondrial DNA depletion syndrome 4B (MNGIE type) [MIM 613662], Mitochondrial recessive ataxia syndrome [MIM 607459], Progressive external ophthalmoplegia, autosomal dominant [MIM 157640], Progressive external ophthalmoplegia, autosomal recessive [MIM 258450]
RMRP Mitochondrial RNA-processing endoribonuclease Anauxetic dysplasia [MIM 607095], Cartilage-hair hypoplasia [MIM 250250]
RRM2B Ribonucleotide Reductase M2 B Mitochondrial DNA depletion syndrome 8 [MIM 612075], Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 [MIM 613077]
SCO1 Cytochrome oxidase deficient 1, S. cervisae homolog of Hepatic failure and neurologic disorder [603644]
SCO2 SCO2, S. cervisae homolog of Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [MIM 604377]
SDH-A succinate dehydrogenase, subunit A Mitochondrial complex II deficiency [MIM 252011]
SPG7 Paraplegin ATPase protease Spastic paraplegia [MIM 607259]
SURF1 Surfeit 1 Leigh syndrome and COX deficiency [MIM 256000]
TK2 Thymidine kinase-2 Mitochondrial DNA depletion syndrome [MIM 609560]
UQCRB ubiquinol-cytochrome c oxidoreductase Mitochondrial complex III deficiency [MIM 124000]
PEX PEX1 Peroxisome biogenesis factor 1 Zellweger syndrome [MIM214100], Infantile Refsum disease [MIM 266510]
PEX2 Peroxisome biogenesis factor 2 Zellweger syndrome [MIM214100], Infantile Refsum disease [MIM 266510]
PEX3 Peroxisome biogenesis factor 3 Zellweger syndrome [MIM214100], Neonatal adrenoleukodystrophy [MIM 202370]
PEX5 Peroxisome biogenesis factor 5 Zellweger syndrome [MIM214100], Neonatal adrenoleukodystrophy [MIM 202370]
PEX6 Peroxisome biogenesis factor 6 Zellweger syndrome [MIM214100]
PEX12 Peroxisome biogenesis factor 12 Zellweger syndrome [MIM214100]
PEX14 Peroxisome biogenesis factor 14 Zellweger syndrome [MIM214100]
PEX26 Peroxisome biogenesis factor 26 Zellweger syndrome [MIM214100], Infantile Refsum disease [MIM 266510]
PEX10 Peroxisome biogenesis factor 10 Neonatal adrenoleukodystrophy [MIM 202370]
PEX13 Peroxisome biogenesis factor 13 Neonatal adrenoleukodystrophy [MIM 202370], Neonatal adrenoleukodystrophy [MIM 202370]
PEX7 Peroxisome biogenesis factor 7 Rhizomelic chondrodysplasia punctata [MIM 215100]
PHYH Phytanoyl-CoA hydroxylase Pipecolic acidemia [MIM 600964], Refsum disease [MIM 266500]
AGXT Alanine:glyoxylate aminotransferase Primary hyperoxaluria type 1 [MIM 259900]
ACOX1 Acetyl-coA oxidase Acyl-coA oxidase deficiency [MIM 264470]
HSD17B4 Bifunctional protein Bifunctional protein deficiency [MIM 261515]
GNPAT Dihydroxyacetonephosphate acyltransferase Dihydroxyacetonephosphate acyltransferase deficiency [MIM 222765]
ABCD1 ATP-binding cassette, subfamily D, member 1 X-linked adrenoleukodytrophy [MIM 300100]
AMACR alpha-Methylacyl-CoA racemase alpha-Methylacyl-CoA racemase deficiency [MIM 614307]
DHAPAT Dihydroxyacetonephosphate acyltransferase Rhizomelic chondrodysplasia punctata type 2 [MIM 222765]
AGPS Alkyl-DHAP synthase Rhizomelic chondrodysplasia punctata type 3 [MIM 600121]
NL LBR lamin B receptor HEM skeletal dysplasia [MIM 215140], Pelger-Huet anomaly [MIM 169400]
EMD Emerin Emery-Dreifuss muscular dystrophy-1 [MIM 310300]
LMNA Lamin A/C Charcot-Marie-Tooth disease, type 2B1 [MIM 605588], Mandibuloacral dysplasia type A with partial lipodystrophy [MIM 248370]
ZMPSTE24 zinc metalloproteinase 24 Mandibuloacral dysplasia with type B lipodystrophy [MIM 608612]
Cilia AHI1 Abelson helper integration site 1 Joubert syndrome [MIM 608629]
BBS1 Bardet-Biedl syndrome-1 BARDET-BIEDL Syndrome [MIM 209900]
BBS10 Bardet-Biedl syndrome-10 BARDET-BIEDL Syndrome [MIM 209900]
BBS11 Bardet-Biedl syndrome-11 BARDET-BIEDL Syndrome [MIM 209900]
BBS12 Bardet-Biedl syndrome-12 BARDET-BIEDL Syndrome [MIM 209900]
BBS14 Bardet-Biedl syndrome-15 BARDET-BIEDL Syndrome [MIM 209900]
BBS2 Bardet-Biedl syndrome-2 BARDET-BIEDL Syndrome [MIM 209900]
BBS3 Bardet-Biedl syndrome-3 BARDET-BIEDL Syndrome [MIM 209900]
BBS4 Bardet-Biedl syndrome-4 BARDET-BIEDL Syndrome [MIM 209900]
BBS5 Bardet-Biedl syndrome-5 BARDET-BIEDL Syndrome [MIM 209900]
BBS6 Bardet-Biedl syndrome-6 BARDET-BIEDL Syndrome [MIM 209900]
BBS7 Bardet-Biedl syndrome-7 BARDET-BIEDL Syndrome [MIM 209900]
BBS8 Bardet-Biedl syndrome-8 BARDET-BIEDL Syndrome [MIM 209900]
BBS9 Bardet-Biedl syndrome-9 BARDET-BIEDL Syndrome [MIM 209900]
CC2D2A Coiled-coil and C2 domains containing protein 2A COACH Syndrome [MIM 216360], JOUBERT Syndrome [MIM 612285], LEBER Congenital Amaurosis [MIM 611755] , MECKEL Syndrome Type 4 [MIM 611134], SENIOR-LOKEN Syndrome [MIM 610189]
CEP290 Centrosomal protein, 290-KD BARDET-BIEDL Syndrome [MIM 209900], JOUBERT Syndrome [MIM 610188]
DNAH11 Dynein axonemal heavy chain 11 Primary ciliary dyskinesia [MIM 611884]
DNAH5 Dynein axonemal heavy chain 5 Primary ciliary dyskinesia [MIM 608644]
DNAI1 Dynein axonemal intermediate chain 1 Primary ciliary dyskinesia [MIM 244400], Reynolds Syndrome [MIM 613471]
DNAI2 Dynein axonemal intermediate chain 2 Primary ciliary dyskinesia [MIM 612444]
MKS1 Meckel syndrome-1 BARDET-BIEDL Syndrome [MIM 209900], MECKEL Syndrome Type 1 [MIM 249000]
NPHP1 Nephrocystin 1 JOUBERT Syndrome [MIM 609583], NEPHRONOPHTHISIS 1 [MIM 256100], MECKEL Syndrome Type 6 [MIM 612284]
NPHP2 Nephrocystin 2 NEPHRONOPHTHISIS 2 [MIM 602088]
NPHP3 Nephrocystin 3 MECKEL Syndrome Type 7 [MIM 267010], NEPHRONOPHTHISIS 3 [MIM 604387], SENIOR-LOKEN Syndrome 1 [MIM 266900], RENAL-HEPATIC-PANCREATIC Dysplasia [MIM 208540]
NPHP4 Nephrocystin 4 NEPHRONOPHTHISIS 4 [MIM 606966]
NPHP5 Nephrocystin 5 SENIOR-LOKEN Syndrome 5 [MIM 609254]
NPHP7 Nephrocystin 7 NEPHRONOPHTHISIS 7 [MIM 611498]
NPHP9 Nephrocystin 9 NEPHRONOPHTHISIS 9 [MIM 613824]
OFD1 Orofaciodigital syndrome type 1 Orofaciodigital syndrome type 1 [MIM 311200]
PKHD1 Polycystic kidney and hepatic disease-1 Polycystic kidney [MIM 263200], MECKEL Syndrome Type 5 [MIM 611561]
RPGRIP1L RPGRIP1-like COACH Syndrome [MIM 216360], JOUBERT Syndrome [MIM 611560], MECKEL Syndrome Type 3 [MIM 607361], NEPHRONOPHTHISIS 11 [MIM 613550]
RSPH4A Radial spoke head 4 Primary ciliary dyskinesia [MIM 612649]
RSPH9 Radial spoke head 9 Primary ciliary dyskinesia [MIM 612650]
TMEM237 Transmembrane protein 237 JOUBERT Syndrome [ MIM 614224]
TMEM67 Transmembrane protein 67 COACH Syndrome [MIM 216360], JOUBERT Syndrome [MIM 610688]
TXNDC3 Thioredoxin domain-containing protein 3 Primary ciliary dyskinesia [MIM 610852]