TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Johanson-Blizzard syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome 		0.010 Biomarker disease BEFREE Allelism of MKS and JBS has been reported for TMEM67/MKS3, CEP290/MKS4, and RPGRIP1L/MKS5. 19777577 2009