Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555379911
rs1555379911
Entrez Id: 283489
Gene Symbol: CHAMP1
CHAMP1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. 26751395 2016
dbSNP: rs1555379911
rs1555379911
Entrez Id: 283489
Gene Symbol: CHAMP1
CHAMP1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. 27148580 2016
dbSNP: rs1555379911
rs1555379911
Entrez Id: 283489
Gene Symbol: CHAMP1
CHAMP1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. 26340335 2015
dbSNP: rs1555379911
rs1555379911
Entrez Id: 283489
Gene Symbol: CHAMP1
CHAMP1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
dbSNP: rs1555379911
rs1555379911
Entrez Id: 283489
Gene Symbol: CHAMP1
CHAMP1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment. 21063390 2011