Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23512
Gene Symbol: SUZ12
SUZ12 		0.300 Biomarker phenotype GENOMICS_ENGLAND PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes. 31724824 2019
Entrez Id: 116931
Gene Symbol: MED12L
MED12L 		0.300 Biomarker phenotype GENOMICS_ENGLAND Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. 31155615 2019
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		0.300 Biomarker phenotype GENOMICS_ENGLAND Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects. 29669219 2018
Entrez Id: 1000
Gene Symbol: CDH2
CDH2 		0.300 Biomarker phenotype GENOMICS_ENGLAND N-cadherin mediates cortical organization in the mouse brain. 17222817 2007
Entrez Id: 4330
Gene Symbol: MN1
MN1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton. 15870292 2005
Entrez Id: 11198
Gene Symbol: SUPT16H
SUPT16H 		0.300 Biomarker phenotype GENOMICS_ENGLAND The oral hypoglycemic controversy. Stay as sweet as you are. 106193 1979
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