CKAP4, cytoskeleton associated protein 4, 10970

N. diseases: 332; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1249463028
rs1249463028
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
CUI: C0406709
Disease:
Hay-Wells syndrome 		0.020 GeneticVariation BEFREE Here, we report the generation of a knock-in mouse model for AEC syndrome (p63(+/L514F) ) that recapitulates the human disorder. 22247000 2012
dbSNP: rs1249463028
rs1249463028
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
CUI: C0406709
Disease:
Hay-Wells syndrome 		0.020 GeneticVariation BEFREE To further investigate the molecular mechanisms associated with AEC syndrome we established the cellular model for this disorder by stable introduction of mutated allele [L514F] of p63alpha into immortalized keratinocyte cells. 16177572 2005
dbSNP: rs974296289
rs974296289
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE DNA extracted from the tumor identified a BRAF V600E mutation in exon 15 and a BRAF G468A mutation in exon 11, whereas DNA from non-tumorous cells did not contain a mutation. 22192803 2012
dbSNP: rs150849660
rs150849660
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
CUI: C1863204
Disease:
ADULT SYNDROME 		0.010 GeneticVariation BEFREE We report on the first case of ADULT syndrome of a mother and daughter with a new mutation R227Q in exon 6 of the p63 gene. 17041931 2006
dbSNP: rs774804936
rs774804936
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
CUI: C1863204
Disease:
ADULT SYNDROME 		0.010 GeneticVariation BEFREE We report on the first case of ADULT syndrome of a mother and daughter with a new mutation R227Q in exon 6 of the p63 gene. 17041931 2006