Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 Biomarker phenotype HPO
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		0.100 Biomarker phenotype HPO
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C 		0.100 Biomarker phenotype HPO
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.100 Biomarker phenotype HPO
Entrez Id: 105259599
Gene Symbol: H19-ICR
H19-ICR 		0.100 Biomarker phenotype HPO
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		0.100 GeneticVariation phenotype CLINVAR A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. 1361034 1992
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei. 1423634 1992
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 CausalMutation phenotype CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658 1992
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		0.100 CausalMutation phenotype CLINVAR Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. 1606479 1992
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.100 CausalMutation phenotype CLINVAR Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. 1714544 1991
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 GeneticVariation phenotype CLINVAR Purification of a 92-kDa cytoplasmic protein tightly associated with the cell-cell adhesion molecule E-cadherin (uvomorulin). Characterization and extractability of the protein complex from the cell cytostructure. 1999432 1991
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.100 CausalMutation phenotype CLINVAR Birth of the D-E-A-D box. 2563148 1989
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation phenotype CLINVAR Predictive motifs derived from cytosine methyltransferases. 2717398 1989
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 CausalMutation phenotype CLINVAR Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. 2738900 1989
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		0.100 CausalMutation phenotype CLINVAR Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. 3067577 1988
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation phenotype CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967 1986
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation phenotype CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967 1986
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.100 CausalMutation phenotype CLINVAR Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease. 3754980 1986
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		0.100 CausalMutation phenotype CLINVAR Remission of progressive renal failure in familial Mediterranean fever during colchicine treatment. 4015155 1985
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 CausalMutation phenotype CLINVAR Phenotypic variation in LADD syndrome. 4078868 1985
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.100 GeneticVariation phenotype CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861 1971
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		0.100 CausalMutation phenotype CLINVAR Familial Mediterranean fever. A survey of 470 cases and review of the literature. 5340644 1967
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.100 CausalMutation phenotype CLINVAR Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone. 6965523 1980
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 GeneticVariation phenotype CLINVAR Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. 7493025 1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 CausalMutation phenotype CLINVAR Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development. 7573032 1995