All diseases

28 entries on 1 page. Showing entries 1 - 28.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
04165 - Lichtenstein–Knorr syndrome - - 1 1 SLC9A1 - -
05901 ARCND auriculocondylar syndrome (ARCND) - - 11 8 EDN1, HDAC9, PLCB4 - -
04018 ARMD15 macular degeneration, age-related, type 15 (ARMD-15) 615591 - - - C9 - -
03531 ATFB12 fibrillation, atrial, familial, type 12 614050 AD - - ABCC9 - -
03328 AUTS16 autism, susceptibility to, type 16 (AUTS-16) 613410 - - - SLC9A9 - -
03449 C9D complement component 9 deficiency (C9D) 613825 - - - C9 - -
00358 Cantu osteochondrodysplasia, hypertrichotic (Cantu syndrome) 239850 AD 33 33 ABCC9 - -
02766 CMD1O cardiomyopathy, dilated, type 1O 608569 AD - - ABCC9 - -
06655 DIAR8 Diarrhea 8, secretory sodium, congenital 616868 AR - - SLC9A3 - -
01269 DMBCYP2A6 metabolism, drug, resistance, coumarin 122700 AD 7 7 CYP2A6, CYP2C9, F9, VKORC1 - autosomal dominant
04264 DMBp metabolism, drug, poor - - 203 133 CYP1A2, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A5, DPYD - -
00025 FTDALS dementia, frontotemporal, and/or amyotrophic lateral sclerosis (FTDALS) 105550 AD 277 11 C9orf72 - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
06992 IDMYS intellectual disability and myopathy syndrome 619719 AR - - ABCC9 - -
02958 IIAE1 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 610551 - - - UNC93B1 - -
05895 INF infertility - - 20 19 C14orf39, C9orf84 - -
05109 JBTS Joubert syndrome (JBTS) - - 655 602 AHI1, ARL3, ARMC9, B9D1, CEP104, CEP290, MKS1, TCTN2, TMEM67 - -
05824 JBTS30 Joubert syndrome, type 30 (JBTS30) 617622 AR - - ARMC9 - -
04667 LIKNS Lichtenstein-Knorr syndrome? (LIKNS) 616291 AR - - SLC9A1 - -
00801 MRT13 mental retardation, autosomal recessive, type 13 613192 AR 3 3 TRAPPC9 - hypoplastic supraorbital ridges; global developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); no short stature (-HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); tapering fingers, stereotypies, MRI changes (cerebral and cerebellar atrophy, thin corpus callosum, and multifocal supratentorial white matter abnormalities)
05736 MRX108 mental retardation, X-linked, type 108 (MRX108) 301024 XLR - - SLC9A7 - -
00839 MRXSCH intellectual developmental disorder, X-linked syndromic, Christianson type 300243 XL 2 2 SLC9A6 - X-linked dominant
00838 MRXSR mental retardation, X-linked syndromic, Raymond type (MRXSR) 300799 - 3 3 ZDHHC9 - -
07159 NDPACX neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement 301142 XLD - - SLC9A6 - -
04154 NPHL nephrolithiasis - - 1 1 CLCN5, SLC26A6, SLC9A3R1 - -
03114 NPHLOP2 nephrolithiasis/osteoporosis, hypophosphatemic, type 2 (NPHLOP-2) 612287 AD - - SLC9A3R1 - -
05155 OPLL ossification, posterior longitudinal ligament spine (OPLL) - - 21 20 CCDC91 - -
06636 PCH1D hypoplasia, pontocerebellar, type 1D 618065 AR - - EXOSC9 - -
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