Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		0.100 Biomarker phenotype HPO
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 Biomarker phenotype HPO
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.100 Biomarker phenotype HPO
Entrez Id: 1213
Gene Symbol: CLTC
CLTC 		0.100 Biomarker phenotype HPO
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2 		0.100 Biomarker phenotype HPO
Entrez Id: 116150
Gene Symbol: NUS1
NUS1 		0.100 Biomarker phenotype HPO
Entrez Id: 25977
Gene Symbol: NECAP1
NECAP1 		0.100 Biomarker phenotype HPO
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2 		0.100 Biomarker phenotype HPO
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4 		0.100 Biomarker phenotype HPO
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		0.100 Biomarker phenotype HPO
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		0.100 Biomarker phenotype HPO
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		0.100 Biomarker phenotype HPO
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2 		0.100 Biomarker phenotype HPO
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.100 Biomarker phenotype HPO
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 Biomarker phenotype HPO
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2 		0.100 Biomarker phenotype HPO
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		0.100 Biomarker phenotype HPO
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		0.100 Biomarker phenotype HPO
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A 		0.100 Biomarker phenotype HPO
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D 		0.100 Biomarker phenotype HPO