Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR

Entrez Id: 8828
Gene Symbol: NRP2
NRP2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR

Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR

Entrez Id: 4528
Gene Symbol: MTIF2
MTIF2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR

Entrez Id: 6605
Gene Symbol: SMARCE1
SMARCE1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR

Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR

Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR

Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR

Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 13983033

1963
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 13983033

1963
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Pulmonary stenosis, café-au-lait spots, and dull intelligence. 6025371

1967
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Multiple lentigenes syndrome. 5771505

1969
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861

1971
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. 1063406

1976
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. 1063406

1976
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Parastremmatic dwarfism. 956253

1976
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Genetic heterogeneity in osteogenesis imperfecta. 458828

1979