ANKRD11, ankyrin repeat domain 11, 29123

N. diseases: 177; N. variants: 66
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1221781038
rs1221781038
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555524861
rs1555524861
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555526796
rs1555526796
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555527497
rs1555527497
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555528357
rs1555528357
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555529052
rs1555529052
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555529297
rs1555529297
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555529572
rs1555529572
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555529645
rs1555529645
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555529726
rs1555529726
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555529734
rs1555529734
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs878855327
rs878855327
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs886039477
rs886039477
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs886041791
rs886041791
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1221781038
rs1221781038
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421 2016
dbSNP: rs1221781038
rs1221781038
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. 27435318 2016
dbSNP: rs1221781038
rs1221781038
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800 2016
dbSNP: rs1555524861
rs1555524861
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. 27435318 2016
dbSNP: rs1555524861
rs1555524861
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800 2016
dbSNP: rs1555524861
rs1555524861
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421 2016
dbSNP: rs1555526796
rs1555526796
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800 2016
dbSNP: rs1555526796
rs1555526796
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421 2016
dbSNP: rs1555526796
rs1555526796
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. 27435318 2016
dbSNP: rs1555527497
rs1555527497
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. 27435318 2016