Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C4706556
Disease: Hypotonia, speech impairment, severe cognitive delay syndrome
Hypotonia, speech impairment, severe cognitive delay syndrome 		0.100 GeneticVariation CLINVAR Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. 26708753

2016
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C4706556
Disease: Hypotonia, speech impairment, severe cognitive delay syndrome
Hypotonia, speech impairment, severe cognitive delay syndrome 		0.100 GeneticVariation CLINVAR Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. 26708751

2016