Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		0.400 Biomarker phenotype CTD_human 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. 10407778 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		0.400 Biomarker phenotype HPO
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.100 Biomarker phenotype HPO
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		0.100 Biomarker phenotype HPO
Entrez Id: 33
Gene Symbol: ACADL
ACADL 		0.100 Biomarker phenotype HPO
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		0.100 Biomarker phenotype HPO
Entrez Id: 35
Gene Symbol: ACADS
ACADS 		0.100 Biomarker phenotype HPO
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB 		0.100 Biomarker phenotype HPO
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		0.100 Biomarker phenotype HPO
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.100 Biomarker phenotype HPO
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.110 Biomarker phenotype HPO
Entrez Id: 275
Gene Symbol: AMT
AMT 		0.110 Biomarker phenotype BEFREE Nonketotic hyperglycinemia (NKH) is an inborn error of glycine degradation causing muscular hypotonia, seizures, apnea, and lethargy; it has a poor prognosis. 8657542 1996
Entrez Id: 435
Gene Symbol: ASL
ASL 		0.100 Biomarker phenotype HPO
Entrez Id: 443
Gene Symbol: ASPA
ASPA 		0.100 Biomarker phenotype HPO
Entrez Id: 445
Gene Symbol: ASS1
ASS1 		0.100 Biomarker phenotype HPO
Entrez Id: 9474
Gene Symbol: ATG5
ATG5 		0.300 Biomarker phenotype CTD_human Autophagy limits proliferation and glycolytic metabolism in acute myeloid leukemia. 26568842 2015
Entrez Id: 10533
Gene Symbol: ATG7
ATG7 		0.300 Biomarker phenotype CTD_human Autophagy limits proliferation and glycolytic metabolism in acute myeloid leukemia. 26568842 2015
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		0.100 Biomarker phenotype HPO
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		0.100 Biomarker phenotype HPO
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		0.100 CausalMutation phenotype CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
Entrez Id: 551
Gene Symbol: AVP
AVP 		0.100 Biomarker phenotype HPO
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA 		0.100 Biomarker phenotype HPO
Entrez Id: 594
Gene Symbol: BCKDHB
BCKDHB 		0.100 Biomarker phenotype HPO
Entrez Id: 54796
Gene Symbol: BNC2
BNC2 		0.100 Biomarker phenotype HPO
Entrez Id: 388962
Gene Symbol: BOLA3
BOLA3 		0.100 Biomarker phenotype HPO