All diseases

7 entries on 1 page. Showing entries 1 - 7.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00076 COACH COACH syndrome 216360 AR 1 1 CC2D2A, RPGRIP1L, TMEM67 - -
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 - -
00082 JBTS9 Joubert syndrome, type 9 (JBTS-9) 612285 AR 1 1 CC2D2A - -
05578 MKS Meckel syndrome (MKS, Meckel-Gruber syndrome) - - 178 172 CC2D2A, RPGRIP1L, TMEM67 - -
00081 MKS6 Meckel syndrome, type 6 612284 AR - - CC2D2A - -
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 - -
06962 RP93 retinitis pigmentosa, type 93 619845 AR - - CC2D2A - -
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