Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.300 Biomarker phenotype GENOMICS_ENGLAND Monozygotic twins affected with Kleine-Levin syndrome. 22547884 2012
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.100 CausalMutation phenotype CLINVAR Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. 25606425 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.100 CausalMutation phenotype CLINVAR Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 20880125 2011
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.100 CausalMutation phenotype CLINVAR Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene. 16465621 2006
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.100 Biomarker phenotype HPO
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.100 Biomarker phenotype HPO
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.100 Biomarker phenotype HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.100 Biomarker phenotype HPO
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.100 Biomarker phenotype HPO
Entrez Id: 1230
Gene Symbol: CCR1
CCR1 		0.100 Biomarker phenotype HPO
Entrez Id: 5378
Gene Symbol: PMS1
PMS1 		0.100 Biomarker phenotype HPO
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		0.100 Biomarker phenotype HPO
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.100 Biomarker phenotype HPO
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		0.100 Biomarker phenotype HPO
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A 		0.100 Biomarker phenotype HPO
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.100 Biomarker phenotype HPO
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1 		0.100 Biomarker phenotype HPO
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		0.100 Biomarker phenotype HPO
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		0.100 Biomarker phenotype HPO
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13 		0.100 Biomarker phenotype HPO
Entrez Id: 5805
Gene Symbol: PTS
PTS 		0.100 Biomarker phenotype HPO
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3 		0.100 Biomarker phenotype HPO
Entrez Id: 113235
Gene Symbol: SLC46A1
SLC46A1 		0.100 Biomarker phenotype HPO