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: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Infantile cortical hyperostosis; a review of the clinical and radiographic features. 13431894

1957
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. 13871358

1962
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Familial sex-linked mental retardation. 13981686

1962
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 13983033

1963
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 13983033

1963
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 13983033

1963
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. 20790920

1966
Entrez Id: 2312
Gene Symbol: FLG
FLG
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. 20790920

1966
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Pulmonary stenosis, café-au-lait spots, and dull intelligence. 6025371

1967
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. 6022528

1967
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Familial Mediterranean fever. A survey of 470 cases and review of the literature. 5340644

1967
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Multiple lentigenes syndrome. 5771505

1969
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Multiple lentigenes syndrome. 5771505

1969