Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4598
Gene Symbol: MVK
MVK
0.100 Biomarker disease HPO
Entrez Id: 1747
Gene Symbol: DLX3
DLX3
0.100 Biomarker disease HPO
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
0.100 GeneticVariation disease CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.100 Biomarker disease HPO
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
0.100 Biomarker disease HPO
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
0.100 Biomarker disease HPO
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.100 Biomarker disease HPO
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
0.100 Biomarker disease HPO
Entrez Id: 100033413
Gene Symbol: SNORD116-1
SNORD116-1
0.100 Biomarker disease HPO
Entrez Id: 182
Gene Symbol: JAG1
JAG1
0.100 Biomarker disease HPO
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
0.100 Biomarker disease HPO
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
0.100 Biomarker disease HPO
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
0.100 Biomarker disease HPO
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
0.100 Biomarker disease HPO
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.100 Biomarker disease HPO
Entrez Id: 10297
Gene Symbol: APC2
APC2
0.100 Biomarker disease HPO
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
0.100 Biomarker disease HPO
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
0.100 Biomarker disease HPO
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
0.100 CausalMutation disease CLINVAR
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
0.100 Biomarker disease HPO
Entrez Id: 791114
Gene Symbol: PWRN1
PWRN1
0.100 Biomarker disease HPO
Entrez Id: 7681
Gene Symbol: MKRN3
MKRN3
0.100 Biomarker disease HPO
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
0.100 Biomarker disease HPO
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
0.100 Biomarker disease HPO
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
0.100 Biomarker disease HPO