All diseases

22 entries on 1 page. Showing entries 1 - 22.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01673 - atransferrinemia 209300 - 3 3 TF - -
02513 - neuropathy, motor and sensory, hereditary, Okinawa type 604484 - 0 0 TFG - -
03102 - Epithelial-myoepithelial carcinoma 612237 - 0 0 NR4A3, TAF15, TFG - -
04366 ACHM-7 achromatopsia, type 7 (ACHM-7) 616517 - 0 0 ATF6 - -
04567 BBS-17 Bardet-Biedl syndrome, type 17 (BBS-17) 615994 - 1 1 LZTFL1 - -
00441 BOFS branchiooculofacial syndrome (BOFS) 113620 - 8 8 TFAP2A - -
00619 Char Char syndrome 169100 - 0 0 TFAP2B - -
03653 CMM8 melanoma, cutaneous, malignant, susceptibility to, type 8 (CMM8) 614456 - 0 0 MITF - -
05224 COMMAD syndrome, COMMAD (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness) 617306 AR 2 2 MITF - -
01151 COXPD-15 combined oxidative phosphorylation deficiency, type 15 (COXPD-15) 614947 - 0 0 MTFMT - -
03254 GLC-1O glaucoma, open angle, type 1O (GLC-1O) 613100 - 0 0 NTF4 - -
00534 HFE-3 hemochromatosis, type 3 (HFE-3) 604250 - 14 14 TFR2 - -
00139 ID intellectual disability (ID) - - 1775 1512 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 534 more - -
01816 MADD acyl-CoA dehydrogenation deficiency, multiple (MADD) 231680 - 15 13 ETFA, ETFB, ETFDH - autosomal recessive
00258 PACA agenesis, pancreatic and cerebellar (PACA) 609069 - 13 13 PTF1A - -
04138 PAGEN-2 agenesis, pancreatic, type 2 (PAGEN-2) 615935 - 0 0 PTF1A - -
02192 RCCX1 carcinoma, renal cell, Xp11-associated (RCCX1) 300854 - 0 0 TFE3 - -
04043 SPG-57 paraplegia, spastic, type 57, autosomal recessive (SPG-57) 615658 - 7 7 TFG - -
01166 TADS syndrome, Tietz albinism-deafness (TADS) 103500 AD 0 0 MITF - -
00748 TTD trichothiodystrophy (TTD) - - 19 19 ERCC2, ERCC3, GTF2H5, MPLKIP - -
04325 TTD-3 trichothiodystrophy, type 3, photosentitive (TTD-3) 616395 - 0 0 GTF2H5 - -
01605 WS2A syndrome, Waardenburg , type 2A (WS2A) 193510 AD 2 2 MITF - -
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