Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.100 Biomarker phenotype HPO
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		0.100 Biomarker phenotype HPO
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1 		0.100 Biomarker phenotype HPO
Entrez Id: 50651
Gene Symbol: SLC45A1
SLC45A1 		0.100 Biomarker phenotype HPO
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2 		0.100 Biomarker phenotype HPO
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4 		0.100 Biomarker phenotype HPO
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6888
Gene Symbol: TALDO1
TALDO1 		0.100 Biomarker phenotype HPO
Entrez Id: 5922
Gene Symbol: RASA2
RASA2 		0.100 Biomarker phenotype HPO
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		0.100 Biomarker phenotype HPO
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.100 Biomarker phenotype HPO
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24 		0.100 Biomarker phenotype HPO
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		0.100 Biomarker phenotype HPO
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2 		0.100 Biomarker phenotype HPO
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.100 Biomarker phenotype HPO
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		0.100 Biomarker phenotype HPO
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		0.100 Biomarker phenotype HPO
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		0.100 Biomarker phenotype HPO
Entrez Id: 201163
Gene Symbol: FLCN
FLCN 		0.100 Biomarker phenotype HPO
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3 		0.100 Biomarker phenotype HPO
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1 		0.100 Biomarker phenotype HPO
Entrez Id: 990
Gene Symbol: CDC6
CDC6 		0.100 Biomarker phenotype HPO
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1 		0.100 Biomarker phenotype HPO
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		0.100 Biomarker phenotype HPO
Entrez Id: 4591
Gene Symbol: TRIM37
TRIM37 		0.100 Biomarker phenotype HPO