All diseases

20 entries on 1 page. Showing entries 1 - 20.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00511 - asthma, susceptibility to 600807 AD 1 1 ADRB2, ALOX5, CCL11, HLA-G, HNMT, IL13, MUC7, PHF11, PLA2G7, SCGB3A2, TNF - -
03540 - Aspergillosis, susceptibility to 614079 - - - CLEC7A - -
06178 ARCI13 Ichthyosis, congenital, autosomal recessive 13 617574 AR - - SDR9C7 - -
02902 C7D complement component 7 deficiency (C7D) 610102 - - - C7 - -
03259 CANDF4 candidiasis, familial, type 4 (CANDF-4) 613108 AR - - CLEC7A - -
03728 CNM4 myopathy, centronuclear, type 4 (CNM-4) 614807 AD - - CCDC78 - -
01739 CSNU cystinuria (CSNU) 220100 AD;AR 14 11 SLC3A1, SLC7A9 - -
01817 GA3 Glutaric aciduria III 231690 AR - - C7orf10 - -
01874 GIDID gastrointestinal defects and immunodeficiency syndrome (GIDID) 243150 AR 1 1 TTC7A - -
04397 HRPT1 hyperparathyroidism, familial primary, type 1 (HRPT-1) 145000 AD 11 10 CDC73 - -
04398 HRPT2 hyperparathyroidism-jaw tumor syndrome, type 2 (HRPT-2) 145001 AD - - CDC73 - -
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 - -
00051 LPI lysinuric protein intolerance (LP!) 222700 AR 1 1 SLC7A7 - -
06766 MCPH25 ?Microcephaly 25, primary, autosomal recessive 618351 AR - - C7orf43 - -
06947 NEDSEBA neurodevelopmental disorder with seizures and brain atrophy 619072 AR - - EXOC7 - -
02749 PRTC carcinoma, parathyroid 608266 - - - CDC73 - -
00112 RP retinitis pigmentosa (RP) 268000 - 1159 897 ADCK4, ARL3, BEST1, CC2D2A, CNGB1, DHDDS, EYS, HKDC1, IDH3A, IMPG1, KIF3B, NR2E3, POC5, PRPF8, RNU4-2, RNU6-1, RNU6-2, RNU6-8, RNU6-9, SLC7A14, SMG8, TMEM216 - -
04065 RP68 retinitis pigmentosa, type 68 (RP68) 615725 AR - - SLC7A14 - -
05564 SPGF24 spermatogenic failure, type 24 (SPGF-24) 617959 AR - - C7orf63 - autosomal recessive
06921 SPGF60 spermatogenic failure, type 60 619646 AR - - CCDC79 - -
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