TMEM94, transmembrane protein 94, 9772

N. diseases: 103; N. variants: 2
Disease: Abnormality of head or neck ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021817
Disease: Abnormality of head or neck
Abnormality of head or neck 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. 30526868 2018