Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 GeneticVariation UNIPROT To the best of our knowledge, this is the first report verifying the causality between COACH syndrome and TMEM67, which will further our understanding of molecular pathogenesis of the syndrome. 28860541

2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 GeneticVariation UNIPROT 19/23 families (83%) with COACH syndrome carried MKS3 mutations, compared to 2/209 (1%) with JSRD but no liver disease. 19574260

2010
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.740 GeneticVariation UNIPROT MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225

2009
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 GeneticVariation UNIPROT Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L; therefore, MKS3 should be the first gene tested in patients with JSRD plus liver disease and/or coloboma, followed by CC2D2A and RPGRIP1L. 19574260

2010
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 GeneticVariation UNIPROT Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L; therefore, MKS3 should be the first gene tested in patients with JSRD plus liver disease and/or coloboma, followed by CC2D2A and RPGRIP1L. 19574260

2010