Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 83604
Gene Symbol: TMEM47
TMEM47 		transmembrane protein 47 0.821 0.154 0.80
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		disease 0.100 None 0 1
Entrez Id: 83604
Gene Symbol: TMEM47
TMEM47 		transmembrane protein 47 0.821 0.154 0.80
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 83604
Gene Symbol: TMEM47
TMEM47 		transmembrane protein 47 0.821 0.154 0.80
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 1
Entrez Id: 83604
Gene Symbol: TMEM47
TMEM47 		transmembrane protein 47 0.821 0.154 0.80
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 83604
Gene Symbol: TMEM47
TMEM47 		transmembrane protein 47 0.821 0.154 0.80
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 1
Entrez Id: 83604
Gene Symbol: TMEM47
TMEM47 		transmembrane protein 47 0.821 0.154 0.80
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1