TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Joubert syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.300 GermlineCausalMutation disease ORPHANET The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 17160906 2007