TMEM237, transmembrane protein 237, 65062

N. diseases: 3; N. variants: 8
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280766
Disease: JOUBERT SYNDROME 14
JOUBERT SYNDROME 14 		0.410 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3280766
Disease: JOUBERT SYNDROME 14
JOUBERT SYNDROME 14 		0.410 CausalMutation disease 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
CUI: C3280766
Disease: JOUBERT SYNDROME 14
JOUBERT SYNDROME 14 		0.410 GeneticVariation disease CLINVAR
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.100 GeneticVariation disease CLINVAR
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation phenotype CLINVAR