All diseases

8 entries on 1 page. Showing entries 1 - 8.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00089 BBS-1 Bardet-Biedl syndrome, type 1 (BBS-1) 209900 - 9 8 ARL6, BBS1, CCDC28B, MKS1, TMEM67 - -
00076 COACH COACH syndrome 216360 - 1 1 CC2D2A, RPGRIP1L, TMEM67 - -
00139 ID intellectual disability (ID) - - 1542 1279 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 531 more - -
00002 JBTS-1 Joubert syndrome, type 1 (JBTS-1) 213300 - 49 53 INPP5E, TCTN1, TMEM67 - -
00934 JBTS-6 Joubert syndrome, type 6 (JBTS-6) 610688 - 0 0 TMEM67 - -
00075 MKS-3 Meckel syndrome, type 3 (MKS-3) 607361 - 1 1 TMEM67 - -
00077 NPHP-11 nephronophthisis, type 11 (NPHP-11) 613550 - 0 0 TMEM67 - -
05419 RHYNS syndrome, retinitis pigmentosa, hypopituitarism, nephronophthisis and skeletal dysplasia (RHYNS) 602152 - 1 1 TMEM67 eyes;ears;liver;bones (skeleton) -
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