Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.100 GeneticVariation group CLINVAR
Entrez Id: 8828
Gene Symbol: NRP2
NRP2 		0.100 GeneticVariation group CLINVAR
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		0.100 CausalMutation group CLINVAR
Entrez Id: 4528
Gene Symbol: MTIF2
MTIF2 		0.100 GeneticVariation group CLINVAR
Entrez Id: 6605
Gene Symbol: SMARCE1
SMARCE1 		0.100 GeneticVariation group CLINVAR
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3 		0.100 CausalMutation group CLINVAR
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		0.100 GeneticVariation group CLINVAR
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		0.100 GeneticVariation group CLINVAR
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		0.100 CausalMutation group CLINVAR An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. 13871358 1962
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 CausalMutation group CLINVAR Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 13983033 1963
Entrez Id: 2033
Gene Symbol: EP300
EP300 		0.100 CausalMutation group CLINVAR Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 13983033 1963
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Pulmonary stenosis, café-au-lait spots, and dull intelligence. 6025371 1967
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 CausalMutation group CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970 1968
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation group CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970 1968
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 GeneticVariation group CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970 1968
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 CausalMutation group CLINVAR Multiple lentigenes syndrome. 5771505 1969
Entrez Id: 8241
Gene Symbol: RBM10
RBM10 		0.100 CausalMutation group CLINVAR Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. 5410571 1970
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.100 CausalMutation group CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861 1971
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		0.100 GeneticVariation group CLINVAR The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth. 813535 1975
Entrez Id: 51651
Gene Symbol: PTRH2
PTRH2 		0.100 CausalMutation group CLINVAR Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. 1063406 1976
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation group CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892 1976
Entrez Id: 1213
Gene Symbol: CLTC
CLTC 		0.100 CausalMutation group CLINVAR Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. 1063406 1976
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.100 CausalMutation group CLINVAR Parastremmatic dwarfism. 956253 1976
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 GeneticVariation group CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892 1976
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 CausalMutation group CLINVAR Genetic heterogeneity in osteogenesis imperfecta. 458828 1979