Source: ALL
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: 999
Gene Symbol: CDH1
CDH1 		0.100 Biomarker phenotype HPO
Entrez Id: 64801
Gene Symbol: ARV1
ARV1 		0.100 Biomarker phenotype HPO
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ 		0.100 Biomarker phenotype HPO
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		0.100 Biomarker phenotype HPO
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.100 Biomarker phenotype HPO
Entrez Id: 29072
Gene Symbol: SETD2
SETD2 		0.100 Biomarker phenotype HPO
Entrez Id: 5982
Gene Symbol: RFC2
RFC2 		0.100 Biomarker phenotype HPO
Entrez Id: 6497
Gene Symbol: SKI
SKI 		0.100 Biomarker phenotype HPO
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4 		0.100 Biomarker phenotype HPO
Entrez Id: 7467
Gene Symbol: WHCR
WHCR 		0.100 Biomarker phenotype HPO
Entrez Id: 26608
Gene Symbol: TBL2
TBL2 		0.100 Biomarker phenotype HPO
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.100 Biomarker phenotype HPO
Entrez Id: 1174
Gene Symbol: AP1S1
AP1S1 		0.100 Biomarker phenotype HPO
Entrez Id: 6857
Gene Symbol: SYT1
SYT1 		0.100 Biomarker phenotype HPO
Entrez Id: 8504
Gene Symbol: PEX3
PEX3 		0.100 Biomarker phenotype HPO
Entrez Id: 3930
Gene Symbol: LBR
LBR 		0.100 Biomarker phenotype HPO
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.100 Biomarker phenotype HPO
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.100 Biomarker phenotype HPO
Entrez Id: 3090
Gene Symbol: HIC1
HIC1 		0.100 Biomarker phenotype HPO
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 Biomarker phenotype HPO
Entrez Id: 81857
Gene Symbol: MED25
MED25 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B 		0.100 Biomarker phenotype HPO
Entrez Id: 818
Gene Symbol: CAMK2G
CAMK2G 		0.100 Biomarker phenotype HPO