Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.100 GeneticVariation phenotype CLINVAR
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: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 91949
Gene Symbol: COG7
COG7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		0.100 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 22983
Gene Symbol: MAST1
MAST1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 57479
Gene Symbol: PRR12
PRR12 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		0.100 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 6606
Gene Symbol: SMN1
SMN1 		0.100 GeneticVariation phenotype CLINVAR Spinal muscular atrophy diagnostics. 17761649 2007
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 58538
Gene Symbol: MPP4
MPP4 		0.100 CausalMutation phenotype CLINVAR