Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.100 Biomarker phenotype HPO
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 Biomarker phenotype HPO
Entrez Id: 131377
Gene Symbol: KLHL40
KLHL40 		0.100 Biomarker phenotype HPO
Entrez Id: 2581
Gene Symbol: GALC
GALC 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 Biomarker phenotype HPO
Entrez Id: 390594
Gene Symbol: KBTBD13
KBTBD13 		0.100 Biomarker phenotype HPO
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.100 Biomarker phenotype HPO
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.100 Biomarker phenotype HPO
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		0.100 Biomarker phenotype HPO
Entrez Id: 84665
Gene Symbol: MYPN
MYPN 		0.100 Biomarker phenotype HPO
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10491
Gene Symbol: CRTAP
CRTAP 		0.100 Biomarker phenotype HPO
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2 		0.100 Biomarker phenotype HPO
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 Biomarker phenotype HPO
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.100 Biomarker phenotype HPO
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		0.100 Biomarker phenotype HPO
Entrez Id: 23729
Gene Symbol: SHPK
SHPK 		0.100 Biomarker phenotype HPO
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.100 Biomarker phenotype HPO