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

1976
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: 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: 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: 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: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. 1415255

1992
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. 1415255

1992
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei. 1423634

1992
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658

1992
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658

1992
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. 1520078

1992
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia. 1537368

1992
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A clinical study of Noonan syndrome. 1543375

1992
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR A clinical study of Noonan syndrome. 1543375

1992
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Familial paroxysmal ataxia: report of a family. 1564484

1992