Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. 24738973 2015
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation. 24145135 2014
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor. 25049392 2014
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. 22693284 2012
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. 22031302 2011
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance. 17470457 2007
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR A potential dimerization region of dCAMTA is critical for termination of fly visual response. 17537720 2007
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases. 16678093 2006