Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		0.100 CausalMutation disease CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2 		0.100 Biomarker disease HPO
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		0.100 Biomarker disease HPO
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		0.100 Biomarker disease HPO
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		0.100 Biomarker disease HPO
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		0.100 Biomarker disease HPO
Entrez Id: 2990
Gene Symbol: GUSB
GUSB 		0.100 Biomarker disease HPO
Entrez Id: 55697
Gene Symbol: VAC14
VAC14 		0.100 Biomarker disease HPO
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.100 Biomarker disease HPO
Entrez Id: 10815
Gene Symbol: CPLX1
CPLX1 		0.100 Biomarker disease HPO
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.100 Biomarker disease HPO
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		0.100 Biomarker disease HPO
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2033
Gene Symbol: EP300
EP300 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1487
Gene Symbol: CTBP1
CTBP1 		0.100 Biomarker disease HPO
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		0.100 Biomarker disease HPO
Entrez Id: 51715
Gene Symbol: RAB23
RAB23 		0.100 Biomarker disease HPO
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		0.100 Biomarker disease HPO
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		0.100 Biomarker disease HPO
Entrez Id: 53834
Gene Symbol: FGFRL1
FGFRL1 		0.100 Biomarker disease HPO
Entrez Id: 3981
Gene Symbol: LIG4
LIG4 		0.100 Biomarker disease HPO
Entrez Id: 7467
Gene Symbol: WHCR
WHCR 		0.100 Biomarker disease HPO
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		0.100 Biomarker disease HPO
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		0.100 Biomarker disease HPO
Entrez Id: 4921
Gene Symbol: DDR2
DDR2 		0.100 Biomarker disease HPO