Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.510 GermlineCausalMutation ORPHANET Our study, the largest comprehensive molecular series on JS, provides independent confirmation of the recently reported TCTN1, TMEM237, and C5ORF42 as bona fide JS disease genes, and expands the allelic heterogeneity of this disease. 22693042

2012

Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
0.510 GermlineCausalMutation ORPHANET TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. 22152675

2011