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MCID: XRD023
MIFTS: 50

Xeroderma Pigmentosum, Complementation Group G

Categories: Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group G

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MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group G:

Name: Xeroderma Pigmentosum, Complementation Group G 57 55 40
Xeroderma Pigmentosum, Group G 57 29 13 6 73
Xeroderma Pigmentosum Vii 57 12 53 75
Xp7 57 12 53 75
Xpg 57 12 53
Xeroderma Pigmentosum Complementation Group G 53 75
Xeroderma Pigmentosum Group G 12 15
Xp Group G 12 75
Xeroderma Pigmentosum, Group G/cockayne Syndrome 57
Xeroderma Pigmentosum Group G/cockayne Syndrome 6
Xeroderma Pigmentosum Vii; Xp7 57
Xeroderma Pigmentosum, Type 7 76
Xeroderma Pigmentosum Type 7 53
Xp, Group G; Xpgc 57
Xp, Group G 57
Xp-G/cs 75
Xpgc 57
Xp-G 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
some patients have no neurologic abnormalities


HPO:

32
xeroderma pigmentosum, complementation group g:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33


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Summaries for Xeroderma Pigmentosum, Complementation Group G

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UniProtKB/Swiss-Prot : 75 Xeroderma pigmentosum complementation group G: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.

MalaCards based summary : Xeroderma Pigmentosum, Complementation Group G, also known as xeroderma pigmentosum, group g, is related to xeroderma pigmentosum, complementation group a and cerebro-oculo-facio-skeletal syndrome. An important gene associated with Xeroderma Pigmentosum, Complementation Group G is ERCC5 (ERCC Excision Repair 5, Endonuclease), and among its related pathways/superpathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Chks in Checkpoint Regulation. Affiliated tissues include skin, brain and testes, and related phenotypes are microcephaly and cataract

OMIM : 57 For a general description of xeroderma pigmentosum, see XPA (278700), and of Cockayne syndrome, see CSA (216400). Complementation group G has one of the smallest series of cases (Arlett et al., 1980). (278780)

Disease Ontology : 12 A xeroderma pigmentosum that has material basis in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33.

Wikipedia : 76 Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... more...

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Related Diseases for Xeroderma Pigmentosum, Complementation Group G

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Diseases in the Xeroderma Pigmentosum, Complementation Group D family:

Xeroderma Pigmentosum, Complementation Group E Xeroderma Pigmentosum, Complementation Group F
Xeroderma Pigmentosum, Complementation Group G

Diseases related to Xeroderma Pigmentosum, Complementation Group G via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group a 31.7 ERCC1 XPA
2 cerebro-oculo-facio-skeletal syndrome 29.9 ERCC1 ERCC3 ERCC4 ERCC5
3 cockayne syndrome 27.1 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
4 xeroderma pigmentosum, variant type 25.0 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 FEN1
5 cockayne syndrome type ii 10.9
6 breast cancer 10.1
7 melanoma 10.1
8 uv-sensitive syndrome 9.9 ERCC3 ERCC5 FEN1
9 xeroderma pigmentosum, complementation group e 9.8 DDB2 ERCC5 XPA
10 autosomal recessive disease 9.8 ERCC1 ERCC3 XPA
11 cockayne syndrome a 9.8 ERCC4 ERCC5
12 xfe progeroid syndrome 9.8 ERCC1 ERCC4
13 diffuse gastric cancer 9.7 ERCC1 XRCC3
14 trichothiodystrophy 1, photosensitive 9.6 ERCC1 ERCC3 ERCC5 XPA
15 acoustic neuroma 9.5 ERCC4 ERCC5
16 xeroderma pigmentosum, complementation group b 9.5 ERCC1 ERCC3 RAD23B XPA
17 mutagen sensitivity 9.5 RAD23B XPA XRCC1 XRCC3
18 autosomal genetic disease 9.5 ERCC1 XPA XRCC1 XRCC3
19 xeroderma pigmentosum group e 9.4 DDB2 ERCC1 RAD23B XPA
20 basal cell carcinoma 9.4 ERCC1 XPA XRCC1 XRCC3
21 fanconi anemia, complementation group a 9.3 ERCC1 ERCC4 FEN1
22 xeroderma pigmentosum, complementation group c 9.2 DDB2 ERCC3 RAD23B XPA
23 xeroderma pigmentosum, complementation group d 8.6 ERCC1 ERCC3 RAD23B XPA XRCC1 XRCC3
24 xeroderma pigmentosum, complementation group f 7.2 DDB2 ERCC1 ERCC4 ERCC5 RAD23B XPA

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Complementation Group G:



Diseases related to Xeroderma Pigmentosum, Complementation Group G
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Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group G

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
microphthalmia (in some patients)
cataracts (in some patients)

Skin Nails Hair Skin:
photosensitivity
abnormal sensitivity to uvb wavelengths by radiation monochromator skin testing

Skeletal Feet:
pes cavus (in some patients)

Growth Other:
poor growth (in some patients)

Neurologic Central Nervous System:
spasticity (in some patients)
tremor (in some patients)
ataxia (in some patients)
developmental deterioration (in some patients)

Head And Neck Head:
microcephaly (in some patients)

Laboratory Abnormalities:
defective dna repair after ultraviolet radiation damage


Clinical features from OMIM:

278780

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group G:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 cataract 32 occasional (7.5%) HP:0000518
3 microphthalmia 32 occasional (7.5%) HP:0000568
4 cutaneous photosensitivity 32 HP:0000992
5 ataxia 32 occasional (7.5%) HP:0001251
6 spasticity 32 occasional (7.5%) HP:0001257
7 tremor 32 occasional (7.5%) HP:0001337
8 growth delay 32 occasional (7.5%) HP:0001510
9 pes cavus 32 occasional (7.5%) HP:0001761
10 defective dna repair after ultraviolet radiation damage 32 HP:0003079

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Complementation Group G according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.9 DDB2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.9 ERCC1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.9 DDB2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.9 ERCC1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.9 DDB2 ERCC1 EXO1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.9 ERCC1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.9 EXO1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.9 EXO1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.9 DDB2
10 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.83 ERCC1 ERCC4 ERCC5 EXO1 FEN1 XRCC1
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.83 DDB2 ERCC1 ERCC4 ERCC5 EXO1 FEN1
12 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.73 ERCC1 ERCC3 ERCC4 ERCC5 EXO1 FEN1

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Complementation Group G:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 DDB2 ERCC1 ERCC3 ERCC4 EXO1 FEN1
2 growth/size/body region MP:0005378 10.02 ERCC3 ERCC4 ERCC5 FEN1 RAD23B XPA
3 mortality/aging MP:0010768 9.9 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
4 integument MP:0010771 9.8 DDB2 ERCC1 ERCC3 ERCC5 RAD23B XPA
5 liver/biliary system MP:0005370 9.65 ERCC1 ERCC4 ERCC5 FEN1 XPA
6 neoplasm MP:0002006 9.5 ERCC1 ERCC3 EXO1 FEN1 XPA XRCC1
7 reproductive system MP:0005389 9.1 ERCC1 ERCC3 EXO1 FEN1 RAD23B XPA
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Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group G

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Search Clinical Trials , NIH Clinical Center for Xeroderma Pigmentosum, Complementation Group G

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Genetic Tests for Xeroderma Pigmentosum, Complementation Group G

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Genetic tests related to Xeroderma Pigmentosum, Complementation Group G:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group G 29 ERCC5
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Anatomical Context for Xeroderma Pigmentosum, Complementation Group G

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MalaCards organs/tissues related to Xeroderma Pigmentosum, Complementation Group G:

41
Skin, Brain, Testes, Lung
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Publications for Xeroderma Pigmentosum, Complementation Group G

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Articles related to Xeroderma Pigmentosum, Complementation Group G:

(show all 22)
# Title Authors Year
1
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. ( 29749609 )
2018
2
Association of xeroderma pigmentosum complementation group G Asp1104His polymorphism with breast cancer risk: A cumulative meta-analysis. ( 25279219 )
2014
3
Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities. ( 22417308 )
2012
4
Xeroderma pigmentosum complementation group G in association with malignant melanoma. ( 17951140 )
2007
5
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. ( 17179216 )
2006
6
Polymorphism of Xeroderma Pigmentosum group G and the risk of lung cancer and squamous cell carcinomas of the oropharynx, larynx and esophagus. ( 16094634 )
2006
7
A genetic mouse model carrying the nonfunctional xeroderma pigmentosum group G gene. ( 12893972 )
2003
8
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. ( 11841555 )
2002
9
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. ( 12060391 )
2002
10
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. ( 11228268 )
2001
11
Purkinje cell degeneration in mice lacking the xeroderma pigmentosum group G gene. ( 11340641 )
2001
12
Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene. ( 10022922 )
1999
13
Physical and genetic linkage of glutaminase (Gls), signal transducer and activator of transcription 1 (Stat1), and xeroderma pigmentosum complementation group G (Xpg) on mouse proximal chromosome 1. ( 9828143 )
1998
14
Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree. ( 9447232 )
1997
15
A common mutational pattern in Cockayne syndrome patients from Xeroderma pigmentosum group G: implications for a second XPG function. ( 9096355 )
1997
16
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells. ( 8823375 )
1996
17
Human Xeroderma pigmentosum group G gene encodes a DNA endonuclease. ( 8078765 )
1994
18
The human gene for Xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization. ( 8088806 )
1994
19
Mutations that disable the DNA repair gene XPG in a Xeroderma pigmentosum group G patient. ( 7951246 )
1994
20
Complementation of the DNA repair defect in Xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2. ( 8483504 )
1993
21
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. ( 8317483 )
1993
22
Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5. ( 8483505 )
1993
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Variations for Xeroderma Pigmentosum, Complementation Group G

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UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Complementation Group G:

75
# Symbol AA change Variation ID SNP ID
1 ERCC5 p.Ala792Val VAR_007733 rs121434571
2 ERCC5 p.Pro72His VAR_015280 rs121434574
3 ERCC5 p.Ala874Thr VAR_017096 rs121434576
4 ERCC5 p.Leu858Pro VAR_017097 rs121434575
5 ERCC5 p.Ala28Asp VAR_075773 rs267607281
6 ERCC5 p.Trp968Cys VAR_075774 rs267607280

ClinVar genetic disease variations for Xeroderma Pigmentosum, Complementation Group G:

6
(show top 50) (show all 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC5 NM_000123.3(ERCC5): c.1494delA (p.Asp499Ilefs) deletion Pathogenic rs786200920 GRCh37 Chromosome 13, 103514993: 103514993
2 ERCC5 NM_000123.3(ERCC5): c.2878G> T (p.Glu960Ter) single nucleotide variant Pathogenic rs121434570 GRCh37 Chromosome 13, 103524747: 103524747
3 ERCC5 NM_000123.3(ERCC5): c.2878G> T (p.Glu960Ter) single nucleotide variant Pathogenic rs121434570 GRCh38 Chromosome 13, 102872397: 102872397
4 ERCC5 NM_000123.3(ERCC5): c.2375C> T (p.Ala792Val) single nucleotide variant Pathogenic rs121434571 GRCh37 Chromosome 13, 103519037: 103519037
5 ERCC5 NM_000123.3(ERCC5): c.2375C> T (p.Ala792Val) single nucleotide variant Pathogenic rs121434571 GRCh38 Chromosome 13, 102866687: 102866687
6 ERCC5 ERCC5, 1-BP DEL, 2170A deletion Pathogenic
7 ERCC5 NM_000123.3(ERCC5): c.787C> T (p.Arg263Ter) single nucleotide variant Pathogenic rs121434572 GRCh37 Chromosome 13, 103513971: 103513971
8 ERCC5 NM_000123.3(ERCC5): c.787C> T (p.Arg263Ter) single nucleotide variant Pathogenic rs121434572 GRCh38 Chromosome 13, 102861621: 102861621
9 ERCC5 NM_000123.3(ERCC5): c.526C> T (p.Gln176Ter) single nucleotide variant Pathogenic rs121434573 GRCh37 Chromosome 13, 103508460: 103508460
10 ERCC5 NM_000123.3(ERCC5): c.526C> T (p.Gln176Ter) single nucleotide variant Pathogenic rs121434573 GRCh38 Chromosome 13, 102856110: 102856110
11 ERCC5 NM_000123.3(ERCC5): c.215C> A (p.Pro72His) single nucleotide variant Pathogenic rs121434574 GRCh37 Chromosome 13, 103504594: 103504594
12 ERCC5 NM_000123.3(ERCC5): c.215C> A (p.Pro72His) single nucleotide variant Pathogenic rs121434574 GRCh38 Chromosome 13, 102852244: 102852244
13 ERCC5 NM_000123.3(ERCC5): c.2573T> C (p.Leu858Pro) single nucleotide variant Pathogenic rs121434575 GRCh37 Chromosome 13, 103520502: 103520502
14 ERCC5 NM_000123.3(ERCC5): c.2573T> C (p.Leu858Pro) single nucleotide variant Pathogenic rs121434575 GRCh38 Chromosome 13, 102868152: 102868152
15 ERCC5 NM_000123.3(ERCC5): c.1115_1118delGGAA (p.Arg372Thrfs) deletion Pathogenic rs786200919 GRCh37 Chromosome 13, 103514614: 103514617
16 ERCC5 NM_000123.3(ERCC5): c.1115_1118delGGAA (p.Arg372Thrfs) deletion Pathogenic rs786200919 GRCh38 Chromosome 13, 102862264: 102862267
17 ERCC5 NM_000123.3(ERCC5): c.1494delA (p.Asp499Ilefs) deletion Pathogenic rs786200920 GRCh38 Chromosome 13, 102862643: 102862643
18 ERCC5 NM_000123.3(ERCC5): c.2751delA (p.Lys917Asnfs) deletion Pathogenic rs786200921 GRCh37 Chromosome 13, 103524620: 103524620
19 ERCC5 NM_000123.3(ERCC5): c.2751delA (p.Lys917Asnfs) deletion Pathogenic rs786200921 GRCh38 Chromosome 13, 102872270: 102872270
20 ERCC5 NM_000123.3(ERCC5): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121434577 GRCh37 Chromosome 13, 103506663: 103506663
21 ERCC5 NM_000123.3(ERCC5): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121434577 GRCh38 Chromosome 13, 102854313: 102854313
22 ERCC5 NM_000123.3(ERCC5): c.83C> A (p.Ala28Asp) single nucleotide variant Pathogenic rs267607281 GRCh37 Chromosome 13, 103498699: 103498699
23 ERCC5 NM_000123.3(ERCC5): c.83C> A (p.Ala28Asp) single nucleotide variant Pathogenic rs267607281 GRCh38 Chromosome 13, 102846349: 102846349
24 ERCC5 NM_000123.3(ERCC5): c.2904G> C (p.Trp968Cys) single nucleotide variant Pathogenic rs267607280 GRCh37 Chromosome 13, 103525633: 103525633
25 ERCC5 NM_000123.3(ERCC5): c.2904G> C (p.Trp968Cys) single nucleotide variant Pathogenic rs267607280 GRCh38 Chromosome 13, 102873283: 102873283
26 ERCC5 NM_000123.3(ERCC5): c.3238C> T (p.Arg1080Ter) single nucleotide variant Likely pathogenic rs9514067 GRCh37 Chromosome 13, 103527930: 103527930
27 ERCC5 NM_000123.3(ERCC5): c.3238C> T (p.Arg1080Ter) single nucleotide variant Likely pathogenic rs9514067 GRCh38 Chromosome 13, 102875580: 102875580
28 ERCC5 NM_000123.3(ERCC5): c.945C> T (p.His315=) single nucleotide variant Conflicting interpretations of pathogenicity rs34061299 GRCh37 Chromosome 13, 103514444: 103514444
29 ERCC5 NM_000123.3(ERCC5): c.945C> T (p.His315=) single nucleotide variant Conflicting interpretations of pathogenicity rs34061299 GRCh38 Chromosome 13, 102862094: 102862094
30 ERCC5 NM_000123.3(ERCC5): c.1440C> T (p.His480=) single nucleotide variant Benign/Likely benign rs4150316 GRCh38 Chromosome 13, 102862589: 102862589
31 ERCC5 NM_000123.3(ERCC5): c.1440C> T (p.His480=) single nucleotide variant Benign/Likely benign rs4150316 GRCh37 Chromosome 13, 103514939: 103514939
32 ERCC5 NM_000123.3(ERCC5): c.2879+14C> T single nucleotide variant Benign rs4150360 GRCh37 Chromosome 13, 103524762: 103524762
33 ERCC5 NM_000123.3(ERCC5): c.2879+14C> T single nucleotide variant Benign rs4150360 GRCh38 Chromosome 13, 102872412: 102872412
34 ERCC5 NM_000123.3(ERCC5): c.2678+1G> A single nucleotide variant Likely pathogenic rs886044319 GRCh37 Chromosome 13, 103520608: 103520608
35 ERCC5 NM_000123.3(ERCC5): c.2678+1G> A single nucleotide variant Likely pathogenic rs886044319 GRCh38 Chromosome 13, 102868258: 102868258
36 ERCC5 NM_000123.3(ERCC5): c.2778C> G (p.Gly926=) single nucleotide variant Conflicting interpretations of pathogenicity rs9518857 GRCh37 Chromosome 13, 103524647: 103524647
37 ERCC5 NM_000123.3(ERCC5): c.2778C> G (p.Gly926=) single nucleotide variant Conflicting interpretations of pathogenicity rs9518857 GRCh38 Chromosome 13, 102872297: 102872297
38 ERCC5 NM_000123.3(ERCC5): c.2818G> A (p.Val940Met) single nucleotide variant Uncertain significance rs146344855 GRCh37 Chromosome 13, 103524687: 103524687
39 ERCC5 NM_000123.3(ERCC5): c.2818G> A (p.Val940Met) single nucleotide variant Uncertain significance rs146344855 GRCh38 Chromosome 13, 102872337: 102872337
40 ERCC5 NM_000123.3(ERCC5): c.429C> G (p.Leu143=) single nucleotide variant Benign/Likely benign rs4140390 GRCh38 Chromosome 13, 102854336: 102854336
41 ERCC5 NM_000123.3(ERCC5): c.429C> G (p.Leu143=) single nucleotide variant Benign/Likely benign rs4140390 GRCh37 Chromosome 13, 103506686: 103506686
42 ERCC5 NM_000123.3(ERCC5): c.1110T> A (p.Arg370=) single nucleotide variant Conflicting interpretations of pathogenicity rs150791877 GRCh38 Chromosome 13, 102862259: 102862259
43 ERCC5 NM_000123.3(ERCC5): c.1110T> A (p.Arg370=) single nucleotide variant Conflicting interpretations of pathogenicity rs150791877 GRCh37 Chromosome 13, 103514609: 103514609
44 ERCC5 NM_000123.3(ERCC5): c.1173_1174insT (p.Lys392Terfs) insertion Likely pathogenic GRCh38 Chromosome 13, 102862322: 102862323
45 ERCC5 NM_000123.3(ERCC5): c.1173_1174insT (p.Lys392Terfs) insertion Likely pathogenic GRCh37 Chromosome 13, 103514672: 103514673
46 ERCC5 NM_000123.3(ERCC5): c.960C> T (p.Asp320=) single nucleotide variant Likely benign rs4150314 GRCh38 Chromosome 13, 102862109: 102862109
47 ERCC5 NM_000123.3(ERCC5): c.960C> T (p.Asp320=) single nucleotide variant Likely benign rs4150314 GRCh37 Chromosome 13, 103514459: 103514459
48 ERCC5 NM_000123.3(ERCC5): c.2353C> T (p.Gln785Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 13, 102866665: 102866665
49 ERCC5 NM_000123.3(ERCC5): c.2353C> T (p.Gln785Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 13, 103519015: 103519015
50 ERCC5 NM_000123.3(ERCC5): c.3177C> T (p.Gly1059=) single nucleotide variant Likely benign rs148856875 GRCh38 Chromosome 13, 102875519: 102875519
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Expression for Xeroderma Pigmentosum, Complementation Group G

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Search GEO for disease gene expression data for Xeroderma Pigmentosum, Complementation Group G.
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Pathways for Xeroderma Pigmentosum, Complementation Group G

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Pathways related to Xeroderma Pigmentosum, Complementation Group G according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transcription-Coupled Nucleotide Excision Repair (TC-NER) 66
Show member pathways
 12.66 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
2
Chks in Checkpoint Regulation 64
Show member pathways
 12.47 ERCC1 ERCC3 ERCC4 ERCC5 FEN1 RAD23B
3
DNA Double-Strand Break Repair 66
Show member pathways
 12.41 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
4
DNA Damage 4
12.23 DDB2 ERCC1 ERCC3 ERCC4 FEN1 RAD23B
5
Homologous DNA Pairing and Strand Exchange 66
Show member pathways
 12.1 ERCC1 ERCC4 EXO1 GEN1 XRCC3
6
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) 66
Show member pathways
 11.79 EXO1 GEN1 XRCC3
7
Nucleotide excision repair 37
Show member pathways
 11.56 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
8
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 61
11.13 ERCC1 ERCC3 ERCC4 XPA
9
Cyclophosphamide Pathway, Pharmacodynamics 61
Show member pathways
 10.95 ERCC1 ERCC4
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GO Terms for Xeroderma Pigmentosum, Complementation Group G

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Cellular components related to Xeroderma Pigmentosum, Complementation Group G according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.65 ERCC1 ERCC4 FEN1 XRCC1 XRCC3
2 transcription factor TFIID complex GO:0005669 9.54 ERCC1 ERCC3 ERCC4
3 DNA replication factor A complex GO:0005662 9.46 ERCC5 XPA
4 holo TFIIH complex GO:0005675 9.43 ERCC3 ERCC5
5 nucleotide-excision repair complex GO:0000109 9.4 ERCC1 ERCC4
6 nucleoplasm GO:0005654 9.4 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
7 ERCC4-ERCC1 complex GO:0070522 9.33 ERCC1 ERCC4 XRCC1
8 nucleotide-excision repair factor 1 complex GO:0000110 9.13 ERCC1 ERCC4 XPA
9 nucleus GO:0005634 10.1 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1

Biological processes related to Xeroderma Pigmentosum, Complementation Group G according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.97 ERCC1 ERCC4 EXO1 FEN1 GEN1
2 transcription-coupled nucleotide-excision repair GO:0006283 9.95 ERCC1 ERCC3 ERCC4 ERCC5 XPA XRCC1
3 nucleotide-excision repair, DNA incision GO:0033683 9.93 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
4 DNA repair GO:0006281 9.93 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
5 double-strand break repair via homologous recombination GO:0000724 9.92 ERCC4 FEN1 GEN1 XRCC1 XRCC3
6 response to UV GO:0009411 9.91 DDB2 ERCC3 ERCC4 ERCC5 XPA
7 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.91 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
8 nucleotide-excision repair, preincision complex assembly GO:0006294 9.89 DDB2 ERCC3 ERCC5 RAD23B XPA
9 global genome nucleotide-excision repair GO:0070911 9.88 DDB2 ERCC1 ERCC3 ERCC4 RAD23B XPA
10 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.85 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
11 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.84 DDB2 ERCC3 RAD23B XPA
12 response to oxidative stress GO:0006979 9.83 ERCC1 ERCC3 XPA
13 DNA recombination GO:0006310 9.82 ERCC1 EXO1 XRCC3
14 double-strand break repair via nonhomologous end joining GO:0006303 9.81 ERCC1 ERCC4 XRCC1
15 interstrand cross-link repair GO:0036297 9.8 ERCC1 ERCC4 XRCC3
16 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.8 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
17 embryonic organ development GO:0048568 9.79 ERCC1 ERCC3 RAD23B
18 base-excision repair GO:0006284 9.79 FEN1 XPA XRCC1
19 nucleotide-excision repair, DNA damage recognition GO:0000715 9.77 DDB2 RAD23B XPA
20 t-circle formation GO:0090656 9.76 ERCC1 EXO1 XRCC3
21 UV-damage excision repair GO:0070914 9.75 DDB2 ERCC1 XPA
22 telomeric DNA-containing double minutes formation GO:0061819 9.73 ERCC1 ERCC4 XRCC1
23 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.72 ERCC1 ERCC4 XRCC1
24 DNA synthesis involved in DNA repair GO:0000731 9.67 EXO1 XRCC3
25 strand displacement GO:0000732 9.66 EXO1 XRCC3
26 regulation of centrosome duplication GO:0010824 9.66 GEN1 XRCC3
27 isotype switching GO:0045190 9.65 ERCC1 EXO1
28 mitotic recombination GO:0006312 9.65 ERCC1 XRCC3
29 positive regulation of mitotic cell cycle spindle assembly checkpoint GO:0090267 9.64 GEN1 XRCC3
30 negative regulation of telomere maintenance GO:0032205 9.62 ERCC1 ERCC4
31 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.61 ERCC4 XPA
32 resolution of mitotic recombination intermediates GO:0071140 9.6 GEN1 XRCC3
33 nucleotide-excision repair GO:0006289 9.5 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
34 UV protection GO:0009650 9.1 ERCC1 ERCC3 ERCC4 ERCC5 FEN1 XPA
35 cellular response to DNA damage stimulus GO:0006974 10.03 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1

Molecular functions related to Xeroderma Pigmentosum, Complementation Group G according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.84 ERCC5 EXO1 FEN1 GEN1
2 single-stranded DNA binding GO:0003697 9.77 ERCC1 ERCC4 ERCC5 RAD23B XRCC3
3 protein C-terminus binding GO:0008022 9.76 ERCC1 ERCC3 ERCC4
4 double-stranded DNA binding GO:0003690 9.75 ERCC5 FEN1 XRCC3
5 protein N-terminus binding GO:0047485 9.72 ERCC3 ERCC4 ERCC5
6 hydrolase activity, acting on ester bonds GO:0016788 9.63 ERCC5 EXO1 FEN1
7 nuclease activity GO:0004518 9.63 ERCC1 ERCC4 ERCC5 EXO1 FEN1 GEN1
8 endodeoxyribonuclease activity GO:0004520 9.62 ERCC4 ERCC5 GEN1 XRCC3
9 exonuclease activity GO:0004527 9.6 EXO1 FEN1
10 DNA-dependent ATPase activity GO:0008094 9.59 ERCC3 XRCC3
11 RNA-DNA hybrid ribonuclease activity GO:0004523 9.57 EXO1 FEN1
12 5-3 exonuclease activity GO:0008409 9.56 EXO1 FEN1
13 crossover junction endodeoxyribonuclease activity GO:0008821 9.52 GEN1 XRCC3
14 TFIID-class transcription factor binding GO:0001094 9.51 ERCC1 ERCC4
15 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.49 ERCC1 ERCC4
16 flap endonuclease activity GO:0048256 9.43 EXO1 FEN1
17 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.43 ERCC1 ERCC4 XRCC1
18 endonuclease activity GO:0004519 9.43 ERCC1 ERCC4 ERCC5 EXO1 FEN1 GEN1
19 damaged DNA binding GO:0003684 9.23 DDB2 ERCC1 ERCC3 ERCC4 FEN1 RAD23B
20 DNA binding GO:0003677 10.1 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
21 hydrolase activity GO:0016787 10.02 ERCC1 ERCC3 ERCC4 ERCC5 EXO1 FEN1
Sources

Sources for Xeroderma Pigmentosum, Complementation Group G

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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