TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Agenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 GeneticVariation disease BEFREE This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. 19508969 2009