TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele
0.110 Biomarker disease BEFREE Other malformations associated with MKS3 include cystic changes in the liver, polydactyly, and brain abnormalities (occipital encephalocele, hydrocephalus, and Dandy Walker-type cerebellar anomalies). 19211713 2009
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele
0.110 Biomarker disease HPO