All diseases

19 entries on 1 page. Showing entries 1 - 19.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02297 - Helicobacter pylori infection, susceptibility to 600263 - - - IFNGR1, PTPRZ1 - -
04159 - anhidrosis - - 1 1 ITPR2 - -
04531 ANHD anhidrosis?, isolated, with normal sweat glands (ANHD) 106190 AR - - ITPR2 - -
04633 BNAH2 breasts and/or nipples?, aplasia or hypoplasia of, type 2 (BNAH-2) 616001 AR - - PTPRF - -
07093 CMT1J Charcot-Marie-Tooth disease, demyelinating, type 1J 620111 AD - - ITPR3 - -
00091 CRC cancer, colorectal, susceptibility to (CRC) 114500 AD;SMu 3065 1838 AKT1, APC, AURKA, AXIN2, BAX, BUB1B, CCND1, CTNNB1, DCC, DLC1, EP300, FGFR3, FLCN, MCC, MLH3, NRAS, NTHL1, ODC1, PDGFRL, PIK3CA, 7 more - -
05338 DFNA73 deafness, autosomal dominant, type 73 (DFNA-73) 617663 AD - - PTPRQ - -
03303 DFNB79 deafness, autosomal recessive, type 79 (DFNB-79) 613307 AR 6 6 TPRN - -
03323 DFNB84A deafness, autosomal recessive, type 84A (DFNB-84A) 613391 AR - - PTPRQ - -
06469 GAMOS5 Galloway-Mowat syndrome 5 617731 AR - - TPRKB - -
01657 GLSP Gillespie syndrome 206700 AD;AR 32 32 ITPR1 - -
00150 IDDM diabetes mellitus, insulin-dependent (IDDM) 222100 AR 8 8 FOXP3, HNF1A, IL6, INS, ITPR3, OAS1, PTPN22 - -
05292 IMD immunodeficiency (IMD) - - 154 150 ATP6AP1, GTF3A, IL7R, LAT, PTPRC - -
07034 IMD105 immunodeficiency, type 105, severe combined 619924 AR - - PTPRC - -
06310 IMD58 Immunodeficiency 58 618131 AR - - RLTPR - -
00399 NPHS nephrotic syndrome (NPHS) - - 108 90 ADCK4, ARHGDIA, DAAM2, DGKE, EMP2, LAMB2, NPHS1, NPHS2, NUP205, NUP93, PLCE1, PTPRO, WT1 - -
03577 NPHS6 nephrotic syndrome, type 6 (NPHS-6) 614196 AR - - PTPRO - -
04529 SCA15 ataxia, spinocerebellar, type 15 (SCA-15) 606658 AD 1 1 ITPR1 - -
04530 SCA29 ataxia, spinocerebellar, type 29, congenital nonprogressive (SCA-29) 117360 AD - - ITPR1 - -
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