TBCK, TBC1 domain containing kinase, 93627

N. diseases: 85; N. variants: 11
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62321379
rs62321379
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs62321379
rs62321379
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		C 0.700 GeneticVariation CLINVAR