ERCC5, ERCC excision repair 5, endonuclease, 2073

N. diseases: 238; N. variants: 38
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434575
rs121434575
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G
C 0.800 CausalMutation CLINVAR
dbSNP: rs267607280
rs267607280
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G
C 0.800 CausalMutation CLINVAR
dbSNP: rs267607281
rs267607281
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G
A 0.800 CausalMutation CLINVAR
dbSNP: rs1057518813
rs1057518813
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0152025
Disease:
Polyneuropathy
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518813
rs1057518813
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0037772
Disease:
Spastic Paraplegia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518813
rs1057518813
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0013362
Disease:
Dysarthria
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518813
rs1057518813
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0740279
Disease:
Cerebellar atrophy
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518813
rs1057518813
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0016842
Disease:
Congenital pectus excavatum
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518813
rs1057518813
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C1842581
Disease:
Abnormal corpus callosum morphology
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518813
rs1057518813
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0728829
Disease:
Congenital pes cavus
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518813
rs1057518813
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0338656
Disease:
Impaired cognition
A 0.700 GeneticVariation CLINVAR
dbSNP: rs121434570
rs121434570
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G
T 0.700 CausalMutation CLINVAR
dbSNP: rs121434572
rs121434572
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C1968561
Disease:
Xeroderma Pigmentosum, Type G-Cockayne Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs121434573
rs121434573
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C1968561
Disease:
Xeroderma Pigmentosum, Type G-Cockayne Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs121434574
rs121434574
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C1968561
Disease:
Xeroderma Pigmentosum, Type G-Cockayne Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs121434577
rs121434577
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G
T 0.700 CausalMutation CLINVAR
dbSNP: rs1242579404
rs1242579404
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C4304411
Disease:
Xeroderma pigmentosum and Cockayne syndrome complex
A 0.700 CausalMutation CLINVAR
dbSNP: rs1244074570
rs1244074570
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G
T 0.700 CausalMutation CLINVAR
dbSNP: rs1244074570
rs1244074570
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1283214655
rs1283214655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0043346
Disease:
Xeroderma Pigmentosum
AT 0.700 GeneticVariation CLINVAR
dbSNP: rs752661599
rs752661599
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G
G 0.700 CausalMutation CLINVAR
dbSNP: rs760232640
rs760232640
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C1851443
Disease:
Cerebrooculofacioskeletal Syndrome 3
CA 0.700 CausalMutation CLINVAR
dbSNP: rs786200919
rs786200919
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G
G 0.700 CausalMutation CLINVAR
dbSNP: rs786200920
rs786200920
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G
G 0.700 CausalMutation CLINVAR
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.060 GeneticVariation BEFREE <i>XPG</i> Asp1104His polymorphism increases colorectal cancer risk especially in Asians. 30899401 2019