PDCD10, programmed cell death 10, 11235

N. diseases: 68; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517786
rs1057517786
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C1864040
Disease:
Cerebral Cavernous Malformations 3 		A 0.700 CausalMutation CLINVAR CCM3/PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations. 26896283 2016
dbSNP: rs1553760900
rs1553760900
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C1864040
Disease:
Cerebral Cavernous Malformations 3 		A 0.700 CausalMutation CLINVAR PDCD10 gene mutations in multiple cerebral cavernous malformations. 25354366 2014
dbSNP: rs1057517786
rs1057517786
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C1864040
Disease:
Cerebral Cavernous Malformations 3 		A 0.700 CausalMutation CLINVAR CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions. 23595507 2013
dbSNP: rs1057517786
rs1057517786
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C1864040
Disease:
Cerebral Cavernous Malformations 3 		A 0.700 CausalMutation CLINVAR Genomic causes of multiple cerebral cavernous malformations in a Japanese population. 23485406 2013
dbSNP: rs1553760900
rs1553760900
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C1864040
Disease:
Cerebral Cavernous Malformations 3 		A 0.700 CausalMutation CLINVAR CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas. 23801932 2013
dbSNP: rs1057517786
rs1057517786
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C1864040
Disease:
Cerebral Cavernous Malformations 3 		A 0.700 CausalMutation CLINVAR Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations. 18035376 2008
dbSNP: rs1057517786
rs1057517786
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C1864040
Disease:
Cerebral Cavernous Malformations 3 		A 0.700 CausalMutation CLINVAR Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. 15543491 2005
dbSNP: rs1303470125
rs1303470125
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C1864040
Disease:
Cerebral Cavernous Malformations 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553759042
rs1553759042
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C1864040
Disease:
Cerebral Cavernous Malformations 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553759059
rs1553759059
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C1864040
Disease:
Cerebral Cavernous Malformations 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553759139
rs1553759139
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C1864040
Disease:
Cerebral Cavernous Malformations 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553759139
rs1553759139
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C0036572
Disease:
Seizures 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553759139
rs1553759139
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C0018989
Disease:
Hemiparesis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553759139
rs1553759139
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C0018920
Disease:
Hemangioma, Cavernous 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553759139
rs1553759139
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C0917804
Disease:
Arteriovenous Malformations, Cerebral 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553761266
rs1553761266
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C1864040
Disease:
Cerebral Cavernous Malformations 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1559941951
rs1559941951
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C1864040
Disease:
Cerebral Cavernous Malformations 3 		TA 0.700 GeneticVariation CLINVAR
dbSNP: rs1559952317
rs1559952317
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C1864040
Disease:
Cerebral Cavernous Malformations 3 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs11714980
rs11714980
Entrez Id: 5274;11235
Gene Symbol: SERPINI1;PDCD10
SERPINI1;PDCD10
CUI: C2919945
Disease:
Cavernous Hemangioma of Brain 		0.010 GeneticVariation BEFREE Our data indicated that rs9853967 and rs11714980 polymorphisms could be associated with a protective role in CCM disease. 27737651 2016
dbSNP: rs9853967
rs9853967
Entrez Id: 5274;11235
Gene Symbol: SERPINI1;PDCD10
SERPINI1;PDCD10
CUI: C2919945
Disease:
Cavernous Hemangioma of Brain 		0.010 GeneticVariation BEFREE Our data indicated that rs9853967 and rs11714980 polymorphisms could be associated with a protective role in CCM disease. 27737651 2016
dbSNP: rs1057517786
rs1057517786
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C2919945
Disease:
Cavernous Hemangioma of Brain 		0.010 GeneticVariation BEFREE Molecular analysis of the KRIT1 (CCM1), CCM2, and PDCD10 (CCM3) genes identified a heterozygous nonsense mutation (c.103C>T; Arg35X) in the PDCD10 gene, which was reported previously in a CCM family. 18035376 2008
dbSNP: rs1057517786
rs1057517786
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
CUI: C0000768
Disease:
Congenital Abnormality 		0.010 GeneticVariation BEFREE Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations. 18035376 2008