Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.300 Biomarker GENOMICS_ENGLAND Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable human ciliopathy, Joubert syndrome. 22282472

2012