TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: JOUBERT SYNDROME 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772437766
rs772437766
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546 2015
dbSNP: rs772437766
rs772437766
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		G 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs772437766
rs772437766
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 21633164 2011
dbSNP: rs772437766
rs772437766
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260 2010
dbSNP: rs772437766
rs772437766
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		0.800 GeneticVariation UNIPROT Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
dbSNP: rs772437766
rs772437766
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		0.800 GeneticVariation UNIPROT The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 17160906 2007