Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 GermlineCausalMutation ORPHANET Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 21110233

2011

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 GermlineCausalMutation ORPHANET Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712

2009

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 GermlineCausalMutation ORPHANET Meckel syndrome: genetics, perinatal findings, and differential diagnosis. 17389183

2007