Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.100 GeneticVariation phenotype CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation phenotype CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A 		0.100 GeneticVariation phenotype CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 8224
Gene Symbol: SYN3
SYN3 		0.100 CausalMutation phenotype CLINVAR