ERCC5, ERCC excision repair 5, endonuclease, 2073

N. diseases: 238; N. variants: 38
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434575
rs121434575 		0.925 0.240 13 102868152 missense variant T/C snv
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 7 1994 2013
dbSNP: rs267607280
rs267607280 		1.000 0.160 13 102873283 missense variant G/C snv
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 7 1994 2013
dbSNP: rs267607281
rs267607281 		1.000 0.160 13 102846349 missense variant C/A snv
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 7 1994 2013
dbSNP: rs121434576
rs121434576 		1.000 0.160 13 102868199 missense variant G/A snv 2.4E-05 3.5E-05
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 7 1994 2013
dbSNP: rs121434571
rs121434571 		1.000 0.160 13 102866687 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 1994 2013
dbSNP: rs121434574
rs121434574 		0.925 0.240 13 102852244 missense variant C/A;T snv 4.0E-06
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 1994 2013
dbSNP: rs121434570
rs121434570 		0.925 0.160 13 102872397 stop gained G/A;T snv 8.0E-06; 8.0E-06
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 1994 1994
dbSNP: rs9514067
rs9514067 		1.000 0.160 13 102875580 stop gained G/C;T snv 1.00; 1.3E-04
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2004 2004
dbSNP: rs1057518813
rs1057518813 		0.790 0.240 13 102873305 frameshift variant CT/- delins
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs1057518813
rs1057518813 		0.790 0.240 13 102873305 frameshift variant CT/- delins
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518813
rs1057518813 		0.790 0.240 13 102873305 frameshift variant CT/- delins
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518813
rs1057518813 		0.790 0.240 13 102873305 frameshift variant CT/- delins
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518813
rs1057518813 		0.790 0.240 13 102873305 frameshift variant CT/- delins
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518813
rs1057518813 		0.790 0.240 13 102873305 frameshift variant CT/- delins
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1057518813
rs1057518813 		0.790 0.240 13 102873305 frameshift variant CT/- delins
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057518813
rs1057518813 		0.790 0.240 13 102873305 frameshift variant CT/- delins
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.700 0
dbSNP: rs121434570
rs121434570 		0.925 0.160 13 102872397 stop gained G/A;T snv 8.0E-06; 8.0E-06
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121434572
rs121434572 		1.000 0.240 13 102861621 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1968561
Disease: Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Xeroderma Pigmentosum, Type G-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121434573
rs121434573 		1.000 0.240 13 102856110 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C1968561
Disease: Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Xeroderma Pigmentosum, Type G-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121434574
rs121434574 		0.925 0.240 13 102852244 missense variant C/A;T snv 4.0E-06
CUI: C1968561
Disease: Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Xeroderma Pigmentosum, Type G-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121434577
rs121434577 		1.000 0.160 13 102854313 stop gained C/G;T snv
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1242579404
rs1242579404 		1.000 0.240 13 102853837 frameshift variant ACAAG/- delins 4.0E-06
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1244074570
rs1244074570 		1.000 0.160 13 102866665 stop gained C/G;T snv 4.0E-06
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1283214655
rs1283214655 		1.000 0.160 13 102862320 frameshift variant -/T delins
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs752661599
rs752661599 		1.000 0.160 13 102872262 frameshift variant A/-;AA delins
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0