TMEM237, transmembrane protein 237, 65062

N. diseases: 3; N. variants: 8
Source: CLINVAR ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907131
rs387907131
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
CUI: C3280766
Disease:
JOUBERT SYNDROME 14 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs748510210
rs748510210
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
CUI: C3280766
Disease:
JOUBERT SYNDROME 14 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs199469707
rs199469707
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
CUI: C3280766
Disease:
JOUBERT SYNDROME 14 		A 0.700 CausalMutation CLINVAR 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
dbSNP: rs1445957469
rs1445957469
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
CUI: C4021085
Disease:
Abnormality of brain morphology 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1445957469
rs1445957469
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
CUI: C3280766
Disease:
JOUBERT SYNDROME 14 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs730882231
rs730882231
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs751952525
rs751952525
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
CUI: C3280766
Disease:
JOUBERT SYNDROME 14 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs793888505
rs793888505
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
CUI: C3280766
Disease:
JOUBERT SYNDROME 14 		A 0.700 CausalMutation CLINVAR
dbSNP: rs972221242
rs972221242
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
CUI: C4021085
Disease:
Abnormality of brain morphology 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs972221242
rs972221242
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
CUI: C3280766
Disease:
JOUBERT SYNDROME 14 		A 0.700 GeneticVariation CLINVAR