Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR

Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR

Entrez Id: 57479
Gene Symbol: PRR12
PRR12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR

Entrez Id: 57187
Gene Symbol: THOC2
THOC2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR

Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR

Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR

Entrez Id: 4528
Gene Symbol: MTIF2
MTIF2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR

Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR

Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Genetic heterogeneity in osteogenesis imperfecta. 458828

1979
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Parastremmatic dwarfism. 956253

1976
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. 1063406

1976
Entrez Id: 51651
Gene Symbol: PTRH2
PTRH2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain. 1325650

1992
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain. 1325650

1992
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. 1349199

1992
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. 1372469

1992
Entrez Id: 6509
Gene Symbol: SLC1A4
SLC1A4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Calmodulin and protein kinase C cross-talk: the MARCKS protein is an actin filament and plasma membrane cross-linking protein regulated by protein kinase C phosphorylation and by calmodulin. 1395931

1992
Entrez Id: 400958
Gene Symbol: LINC02245
LINC02245
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Calmodulin and protein kinase C cross-talk: the MARCKS protein is an actin filament and plasma membrane cross-linking protein regulated by protein kinase C phosphorylation and by calmodulin. 1395931

1992
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: 546
Gene Symbol: ATRX
ATRX
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658

1992