All diseases

18 entries on 1 page. Showing entries 1 - 18.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
03214 ARCL2B cutis laxa, autosomal recessive, type 2B (ARCL-2B) 612940 AR 5 - PYCR1 - -
03649 ARCL3B cutis laxa, autosomal recessive, type 3B (ARCL-3B) 614438 - 3 - PYCR1 - -
03431 ARMD12 macular degeneration, age-related, type 12 (ARMD-12) 613784 - - - CX3CR1 - -
02578 ASPS sarcoma, alveolar soft part (ASPS) 606243 - - - ASPSCR1 - -
02814 AXPC1 ataxia, posterior column, with retinitis pigmentosa (AXPC1) 609033 AR 1 1 FLVCR1 - -
02649 CHDS1 heart, coronary, disease, susceptibility to, type 1 (CHDS-1) 607339 - - - CX3CR1 - -
05400 DFNB deafness, autosomal recessive (DFNB) - - 955 951 CDH23, CIB2, FAM65B, GRXCR1, HGF, MYO15A, MYO7A, OTOF, OTOG, PCDH15, RDX, S1PR2, SERPINB6, STRC, TMC1, USH1C - autosomal recessive
03299 DFNB25 deafness, autosomal recessive, type 25 (DFNB-25) 613285 AR 5 1 GRXCR1 - -
02850 HIVS virus, human immunodeficiency, susceptibility to 609423 - 1 1 CCL11, CCL2, CCL3, CCL3L1, CD209, CX3CR1, CXCL12, CXCR1, HLA-C, IFNG, IL10, IL4R, KIR3DL1, TLR3 - -
01397 IGER IgEresponsiveness, atopic (IGER) 147050 AD - - HAVCR1, IL21R, IL4R, MS4A2, PHF11, PLA2G7, SELP, SPINK5 - autosomal dominant
02666 KN blood group system, Knops (KN) 607486 - - - CR1 - -
06854 MFHIEN Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 300990 XLR - - AMMECR1 - -
00309 MLRS malaria, susceptibility to 611162 - 3 1 CD36, CISH, CR1, DARC, FCGR2A, FCGR2B, G6PD, GYPA, GYPB, GYPC, HBB, ICAM1, NOS2, SLC4A1, TIRAP, TNF - -
05611 NDD neurodevelopmental disorder (NDD) - - 3539 3354 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 71 more - -
01559 SNDNS Sneddon syndrome (livedo reticularis and cerebrovascular accidents) 182410 AR - - CECR1 - -
06913 SPGF68 spermatogenic failure, type 68 619805 AR - - ALS2CR11 - -
04401 VAIHS Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 615688 AR - - CECR1 - -
01048 VCFS velocardiofacial syndrome 192430 AD 2 2 DGCR14, DGCR2, DGCR6, DGCR8, TBX1 - -
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