Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 57107
Gene Symbol: PDSS2
PDSS2
0.100 Biomarker phenotype HPO
Entrez Id: 9326
Gene Symbol: ZNHIT3
ZNHIT3
0.100 Biomarker phenotype HPO
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
0.100 Biomarker phenotype HPO
Entrez Id: 25782
Gene Symbol: RAB3GAP2
RAB3GAP2
0.100 Biomarker phenotype HPO
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
0.100 Biomarker phenotype HPO