Xeroderma Pigmentosum, Complementation Group G disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

XP-G MCID: XRD023 MIFTS: 52	Xeroderma Pigmentosum, Complementation Group G (XP-G) Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group G

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 Cancer diseases
Anatomical: Neuronal diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Xeroderma pigmentosum

External Ids:

OMIM ⁵⁷ 278780

Disease Ontology ¹² DOID:0110849

ICD10 ³³ Q82.1

MedGen ⁴² C0268141 C1851443 C1968561

MeSH ⁴⁴ D014983

SNOMED-CT via HPO ⁶⁹ 258211005 271611007 128306009 more

UMLS ⁷³ C0268141

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Summaries for Xeroderma Pigmentosum, Complementation Group G

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 ataxia and spasticity

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

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)

Wikipedia : ⁷⁶ Xeroderma pigmentosum (XP) is a genetic disorder (autosomal recessive) in which there is a decreased... more...

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Related Diseases for Xeroderma Pigmentosum, Complementation Group G

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 48)

#	Related Disease	Score	Top Affiliating Genes
1	xeroderma pigmentosum, complementation group a	31.8	ERCC1 XPA
2	cerebro-oculo-facio-skeletal syndrome	31.1	ERCC1 ERCC3 ERCC4 ERCC5
3	cockayne syndrome	29.4	DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
4	xeroderma pigmentosum, variant type	29.2	DDB2 ERCC1 ERCC3 ERCC4 ERCC5 FEN1
5	cockayne syndrome type ii	11.1
6	lung cancer	10.4
7	small cell cancer of the lung	10.4
8	gastric cancer	10.3
9	breast cancer	10.2
10	melanoma	10.2
11	colorectal cancer	10.1
12	cockayne syndrome a	10.1	ERCC4 ERCC5
13	xfe progeroid syndrome	10.1	ERCC1 ERCC4
14	bladder cancer	10.0
15	ovarian cancer	10.0
16	leukemia	10.0
17	fanconi anemia, complementation group q	10.0	ERCC1 ERCC4
18	fanconi anemia, complementation group r	10.0	ERCC1 ERCC4
19	acoustic neuroma	10.0	ERCC4 ERCC5
20	autosomal genetic disease	10.0	ERCC1 XPA XRCC1
21	diffuse gastric cancer	10.0	ERCC1 XRCC3
22	xeroderma pigmentosum, complementation group e	10.0	DDB2 ERCC5 XPA
23	xeroderma pigmentosum group e	9.9	DDB2 RAD23B XPA
24	fanconi anemia, complementation group a	9.9	ERCC1 ERCC4 FEN1
25	hepatocellular carcinoma	9.9
26	leiomyoma, uterine	9.9
27	prostate cancer	9.9
28	suppressor of tumorigenicity 3	9.9
29	neuroblastoma	9.9
30	werner syndrome	9.9
31	leukemia, acute myeloid	9.9
32	lung cancer susceptibility 1	9.9
33	pre-eclampsia	9.9
34	sarcoma	9.9
35	leiomyoma	9.9
36	adenocarcinoma	9.9
37	gastric cardia adenocarcinoma	9.9
38	myeloid leukemia	9.9
39	skin melanoma	9.9
40	uv-sensitive syndrome	9.9	ERCC3 ERCC5 FEN1
41	fanconi anemia, complementation group t	9.9	ERCC1 ERCC4
42	mutagen sensitivity	9.9	RAD23B XPA XRCC1 XRCC3
43	basal cell carcinoma	9.8	ERCC1 XPA XRCC1 XRCC3
44	trichothiodystrophy 1, photosensitive	9.8	ERCC1 ERCC3 ERCC5 XPA
45	xeroderma pigmentosum, complementation group b	9.7	ERCC1 ERCC3 ERCC5 RAD23B XPA
46	xeroderma pigmentosum, complementation group c	9.6	DDB2 ERCC3 RAD23B XPA
47	xeroderma pigmentosum, complementation group d	9.4	ERCC1 ERCC3 RAD23B XPA XRCC1 XRCC3
48	xeroderma pigmentosum, complementation group f	9.4	DDB2 ERCC1 ERCC4 ERCC5 RAD23B XPA

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

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Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group G

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	ataxia ³²	occasional (7.5%)	HP:0001251
2	spasticity ³²	occasional (7.5%)	HP:0001257
3	tremor ³²	occasional (7.5%)	HP:0001337
4	cataract ³²	occasional (7.5%)	HP:0000518
5	microcephaly ³²	occasional (7.5%)	HP:0000252
6	growth delay ³²	occasional (7.5%)	HP:0001510
7	pes cavus ³²	occasional (7.5%)	HP:0001761
8	microphthalmia ³²	occasional (7.5%)	HP:0000568
9	cutaneous photosensitivity ³²		HP:0000992
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 13)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-112	9.93	DDB2
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-116	9.93	EXO1
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-145	9.93	ERCC1
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-153	9.93	DDB2
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-18	9.93	ERCC1
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-181	9.93	DDB2 ERCC1 EXO1
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-204	9.93	ERCC1
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-206	9.93	EXO1
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-211	9.93	EXO1
10	Decreased shRNA abundance (Z-score < -2)	GR00366-A-91	9.93	DDB2
11	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.83	DDB2 ERCC1 ERCC4 ERCC5 EXO1 FEN1
12	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.83	DDB2 ERCC1 ERCC4 ERCC5 EXO1 FEN1
13	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.73	DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.09	DDB2 ERCC1 ERCC3 ERCC4 EXO1 FEN1
2	growth/size/body region	MP:0005378	10.02	DDB2 ERCC1 ERCC3 ERCC4 ERCC5 FEN1
3	mortality/aging	MP:0010768	9.9	DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
4	endocrine/exocrine gland	MP:0005379	9.88	ERCC1 ERCC3 EXO1 FEN1 RAD23B XPA
5	integument	MP:0010771	9.8	DDB2 ERCC1 ERCC3 ERCC5 RAD23B XPA
6	liver/biliary system	MP:0005370	9.65	ERCC1 ERCC4 ERCC5 FEN1 XPA
7	neoplasm	MP:0002006	9.5	DDB2 ERCC1 ERCC3 EXO1 FEN1 XPA
8	reproductive system	MP:0005389	9.1	ERCC1 ERCC3 EXO1 FEN1 RAD23B XPA

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Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group G

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

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Genetic Tests for Xeroderma Pigmentosum, Complementation Group G

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

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

⁴¹

Skin, Brain, Testes, Lung, Prostate, Myeloid

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Publications for Xeroderma Pigmentosum, Complementation Group G

Articles related to Xeroderma Pigmentosum, Complementation Group G:

(show all 24)

#	Title	Authors	Year
1	Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. ( 29749609 )		2018
2	Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree. ( 27051686 )	Wang T...Lian CG	2015
3	Association of xeroderma pigmentosum complementation group G Asp1104His polymorphism with breast cancer risk: A cumulative meta-analysis. ( 25279219 )	Xu X.M....Niu Y.M.	2014
4	Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities. ( 22417308 )		2012
5	Xeroderma pigmentosum complementation group G in association with malignant melanoma. ( 17951140 )	Yoneda K....Kubota Y.	2007
6	A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. ( 17179216 )	Snyder S.H.	2006
7	Polymorphism of Xeroderma Pigmentosum group G and the risk of lung cancer and squamous cell carcinomas of the oropharynx, larynx and esophagus. ( 16094634 )	Cui Y....Zhang Z.F.	2006
8	A genetic mouse model carrying the nonfunctional xeroderma pigmentosum group G gene. ( 12893972 )		2003
9	The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. ( 11841555 )	Lalle P....Clarkson S.G.	2002
10	Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. ( 12060391 )	Emmert S....Kraemer K.H.	2002
11	Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. ( 11228268 )	Zafeiriou D.I....Clarkson S.G.	2001
12	Purkinje cell degeneration in mice lacking the xeroderma pigmentosum group G gene. ( 11340641 )		2001
13	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
14	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
15	Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree. ( 9447232 )	Okinaka R.T....Kraemer K.H.	1997
16	A common mutational pattern in Cockayne syndrome patients from Xeroderma pigmentosum group G: implications for a second XPG function. ( 9096355 )		1997
17	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
18	Human Xeroderma pigmentosum group G gene encodes a DNA endonuclease. ( 8078765 )		1994
19	The human gene for Xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization. ( 8088806 )		1994
20	Mutations that disable the DNA repair gene XPG in a Xeroderma pigmentosum group G patient. ( 7951246 )		1994
21	Defective repair of ionizing radiation damage in Cockayne's syndrome and xeroderma pigmentosum group G. ( 8092696 )	Cooper PK...Leadon SA	1994
22	Complementation of the DNA repair defect in Xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2. ( 8483504 )	Scherly D....Clarkson S.G.	1993
23	Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. ( 8317483 )	Vermeulen W....Hoeijmakers J.H.	1993
24	Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5. ( 8483505 )		1993

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Genes for Xeroderma Pigmentosum, Complementation Group G

Genes related to Xeroderma Pigmentosum, Complementation Group G (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ERCC5	ERCC Excision Repair 5, Endonuclease	Protein Coding	1381	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	2478446 8317483 9096355 (more) 7951246 10395909 17208056 10766805 16981845
2	XPA	XPA, DNA Damage Recognition And Repair Factor	Protein Coding	19.39	DISEASES inferred ¹⁵
3	FEN1	Flap Structure-Specific Endonuclease 1	Protein Coding	18.46	DISEASES inferred ¹⁵
4	ERCC1	ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit	Protein Coding	18.19	DISEASES inferred ¹⁵
5	RAD23B	RAD23 Homolog B, Nucleotide Excision Repair Protein	Protein Coding	17.8	DISEASES inferred ¹⁵
6	GEN1	GEN1, Holliday Junction 5' Flap Endonuclease	Protein Coding	17.46	DISEASES inferred ¹⁵
7	XRCC3	X-Ray Repair Cross Complementing 3	Protein Coding	17.24	DISEASES inferred ¹⁵
8	XRCC1	X-Ray Repair Cross Complementing 1	Protein Coding	17.15	DISEASES inferred ¹⁵
9	EXO1	Exonuclease 1	Protein Coding	17.06	DISEASES inferred ¹⁵
10	DDB2	Damage Specific DNA Binding Protein 2	Protein Coding	16.9	DISEASES inferred ¹⁵
11	ERCC3	ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit	Protein Coding	16.76	DISEASES inferred ¹⁵
12	ERCC4	ERCC Excision Repair 4, Endonuclease Catalytic Subunit	Protein Coding	16.76	DISEASES inferred ¹⁵

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Variations for Xeroderma Pigmentosum, Complementation Group G

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 67)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ERCC5	ERCC5, 1-BP DEL, 2170A	deletion	Pathogenic
2	ERCC5	NM_000123.3(ERCC5): c.787C> T (p.Arg263Ter)	single nucleotide variant	Pathogenic	rs121434572	GRCh37	Chromosome 13, 103513971: 103513971
3	ERCC5	NM_000123.3(ERCC5): c.2878G> T (p.Glu960Ter)	single nucleotide variant	Pathogenic	rs121434570	GRCh37	Chromosome 13, 103524747: 103524747
4	ERCC5	NM_000123.3(ERCC5): c.2878G> T (p.Glu960Ter)	single nucleotide variant	Pathogenic	rs121434570	GRCh38	Chromosome 13, 102872397: 102872397
5	ERCC5	NM_000123.3(ERCC5): c.2375C> T (p.Ala792Val)	single nucleotide variant	Pathogenic	rs121434571	GRCh37	Chromosome 13, 103519037: 103519037
6	ERCC5	NM_000123.3(ERCC5): c.2375C> T (p.Ala792Val)	single nucleotide variant	Pathogenic	rs121434571	GRCh38	Chromosome 13, 102866687: 102866687
7	ERCC5	NM_000123.3(ERCC5): c.787C> T (p.Arg263Ter)	single nucleotide variant	Pathogenic	rs121434572	GRCh38	Chromosome 13, 102861621: 102861621
8	ERCC5	NM_000123.3(ERCC5): c.526C> T (p.Gln176Ter)	single nucleotide variant	Pathogenic	rs121434573	GRCh37	Chromosome 13, 103508460: 103508460
9	ERCC5	NM_000123.3(ERCC5): c.526C> T (p.Gln176Ter)	single nucleotide variant	Pathogenic	rs121434573	GRCh38	Chromosome 13, 102856110: 102856110
10	ERCC5	NM_000123.3(ERCC5): c.215C> A (p.Pro72His)	single nucleotide variant	Pathogenic	rs121434574	GRCh37	Chromosome 13, 103504594: 103504594
11	ERCC5	NM_000123.3(ERCC5): c.215C> A (p.Pro72His)	single nucleotide variant	Pathogenic	rs121434574	GRCh38	Chromosome 13, 102852244: 102852244
12	ERCC5	NM_000123.3(ERCC5): c.2573T> C (p.Leu858Pro)	single nucleotide variant	Pathogenic	rs121434575	GRCh37	Chromosome 13, 103520502: 103520502
13	ERCC5	NM_000123.3(ERCC5): c.2573T> C (p.Leu858Pro)	single nucleotide variant	Pathogenic	rs121434575	GRCh38	Chromosome 13, 102868152: 102868152
14	ERCC5	NM_000123.3(ERCC5): c.1115_1118delGGAA (p.Arg372Thrfs)	deletion	Pathogenic	rs786200919	GRCh37	Chromosome 13, 103514614: 103514617
15	ERCC5	NM_000123.3(ERCC5): c.1115_1118delGGAA (p.Arg372Thrfs)	deletion	Pathogenic	rs786200919	GRCh38	Chromosome 13, 102862264: 102862267
16	ERCC5	NM_000123.3(ERCC5): c.1494delA (p.Asp499Ilefs)	deletion	Pathogenic	rs786200920	GRCh37	Chromosome 13, 103514993: 103514993
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.2620G> A (p.Ala874Thr)	single nucleotide variant	Uncertain significance	rs121434576	GRCh37	Chromosome 13, 103520549: 103520549
21	ERCC5	NM_000123.3(ERCC5): c.2620G> A (p.Ala874Thr)	single nucleotide variant	Uncertain significance	rs121434576	GRCh38	Chromosome 13, 102868199: 102868199
22	ERCC5	NM_000123.3(ERCC5): c.406C> T (p.Gln136Ter)	single nucleotide variant	Pathogenic	rs121434577	GRCh37	Chromosome 13, 103506663: 103506663
23	ERCC5	NM_000123.3(ERCC5): c.406C> T (p.Gln136Ter)	single nucleotide variant	Pathogenic	rs121434577	GRCh38	Chromosome 13, 102854313: 102854313
24	ERCC5	NM_000123.3(ERCC5): c.83C> A (p.Ala28Asp)	single nucleotide variant	Pathogenic	rs267607281	GRCh37	Chromosome 13, 103498699: 103498699
25	ERCC5	NM_000123.3(ERCC5): c.83C> A (p.Ala28Asp)	single nucleotide variant	Pathogenic	rs267607281	GRCh38	Chromosome 13, 102846349: 102846349
26	ERCC5	NM_000123.3(ERCC5): c.2904G> C (p.Trp968Cys)	single nucleotide variant	Pathogenic	rs267607280	GRCh37	Chromosome 13, 103525633: 103525633
27	ERCC5	NM_000123.3(ERCC5): c.2904G> C (p.Trp968Cys)	single nucleotide variant	Pathogenic	rs267607280	GRCh38	Chromosome 13, 102873283: 102873283
28	ERCC5	NM_000123.3(ERCC5): c.138T> C (p.His46=)	single nucleotide variant	Benign	rs1047768	GRCh37	Chromosome 13, 103504517: 103504517
29	ERCC5	NM_000123.3(ERCC5): c.138T> C (p.His46=)	single nucleotide variant	Benign	rs1047768	GRCh38	Chromosome 13, 102852167: 102852167
30	ERCC5	NM_000123.3(ERCC5): c.1586G> C (p.Cys529Ser)	single nucleotide variant	Benign/Likely benign	rs2227869	GRCh37	Chromosome 13, 103515085: 103515085
31	ERCC5	NM_000123.3(ERCC5): c.1586G> C (p.Cys529Ser)	single nucleotide variant	Benign/Likely benign	rs2227869	GRCh38	Chromosome 13, 102862735: 102862735
32	ERCC5	NM_000123.3(ERCC5): c.3310G> C (p.Asp1104His)	single nucleotide variant	Benign	rs17655	GRCh37	Chromosome 13, 103528002: 103528002
33	ERCC5	NM_000123.3(ERCC5): c.3310G> C (p.Asp1104His)	single nucleotide variant	Benign	rs17655	GRCh38	Chromosome 13, 102875652: 102875652
34	ERCC5	NM_000123.3(ERCC5): c.760A> G (p.Met254Val)	single nucleotide variant	Benign/Likely benign	rs1047769	GRCh37	Chromosome 13, 103513944: 103513944
35	ERCC5	NM_000123.3(ERCC5): c.760A> G (p.Met254Val)	single nucleotide variant	Benign/Likely benign	rs1047769	GRCh38	Chromosome 13, 102861594: 102861594
36	ERCC5	NM_000123.3(ERCC5): c.2281G> A (p.Ala761Thr)	single nucleotide variant	Uncertain significance	rs142438319	GRCh37	Chromosome 13, 103518693: 103518693
37	ERCC5	NM_000123.3(ERCC5): c.2281G> A (p.Ala761Thr)	single nucleotide variant	Uncertain significance	rs142438319	GRCh38	Chromosome 13, 102866343: 102866343
38	ERCC5	NM_000123.3(ERCC5): c.767A> G (p.Gln256Arg)	single nucleotide variant	Likely benign	rs4150313	GRCh37	Chromosome 13, 103513951: 103513951
39	ERCC5	NM_000123.3(ERCC5): c.767A> G (p.Gln256Arg)	single nucleotide variant	Likely benign	rs4150313	GRCh38	Chromosome 13, 102861601: 102861601
40	ERCC5	NM_000123.3(ERCC5): c.1789G> C (p.Val597Leu)	single nucleotide variant	Likely benign	rs4150319	GRCh37	Chromosome 13, 103515288: 103515288
41	ERCC5	NM_000123.3(ERCC5): c.1789G> C (p.Val597Leu)	single nucleotide variant	Likely benign	rs4150319	GRCh38	Chromosome 13, 102862938: 102862938
42	ERCC5	NM_000123.3(ERCC5): c.3238C> T (p.Arg1080Ter)	single nucleotide variant	Likely pathogenic	rs9514067	GRCh37	Chromosome 13, 103527930: 103527930
43	ERCC5	NM_000123.3(ERCC5): c.3238C> T (p.Arg1080Ter)	single nucleotide variant	Likely pathogenic	rs9514067	GRCh38	Chromosome 13, 102875580: 102875580
44	ERCC5	NM_000123.3(ERCC5): c.945C> T (p.His315=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34061299	GRCh37	Chromosome 13, 103514444: 103514444
45	ERCC5	NM_000123.3(ERCC5): c.945C> T (p.His315=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34061299	GRCh38	Chromosome 13, 102862094: 102862094
46	ERCC5	NM_000123.3(ERCC5): c.1440C> T (p.His480=)	single nucleotide variant	Benign/Likely benign	rs4150316	GRCh38	Chromosome 13, 102862589: 102862589
47	ERCC5	NM_000123.3(ERCC5): c.1440C> T (p.His480=)	single nucleotide variant	Benign/Likely benign	rs4150316	GRCh37	Chromosome 13, 103514939: 103514939
48	ERCC5	NM_000123.3(ERCC5): c.2879+14C> T	single nucleotide variant	Benign	rs4150360	GRCh37	Chromosome 13, 103524762: 103524762
49	ERCC5	NM_000123.3(ERCC5): c.2879+14C> T	single nucleotide variant	Benign	rs4150360	GRCh38	Chromosome 13, 102872412: 102872412
50	ERCC5	NM_000123.3(ERCC5): c.2678+1G> A	single nucleotide variant	Likely pathogenic	rs886044319	GRCh37	Chromosome 13, 103520608: 103520608

Sources

Expression for Xeroderma Pigmentosum, Complementation Group G

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

Sources

Pathways for Xeroderma Pigmentosum, Complementation Group G

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 DNA Damage Recognition in GG-NER ⁶⁶ Dual incision in TC-NER ⁶⁶ Formation of Incision Complex in GG-NER ⁶⁶ Formation of TC-NER Pre-Incision Complex ⁶⁶ Gap-filling DNA repair synthesis and ligation in TC-NER ⁶⁶ Global Genome Nucleotide Excision Repair (GG-NER) ⁶⁶ Nucleotide Excision Repair ⁶⁶	12.66	DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
2	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ Parkinson's Disease Pathway ⁶⁴ SREBP Proteolysis ⁶⁴	12.47	ERCC1 ERCC3 ERCC4 ERCC5 FEN1 RAD23B
3	DNA Double-Strand Break Repair ⁶⁶ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁶ DNA damage_DNA-damage-induced responses ²² DNA Repair ⁶⁶ G2/M DNA damage checkpoint ⁶⁶ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁶ HDR through MMEJ (alt-NHEJ) ⁶⁶ Homology Directed Repair ⁶⁶ Non-homologous end joining ¹ Non-homologous end-joining ³⁷ Processing of DNA double-strand break ends ⁶⁶	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 ATR Signaling ¹ HDR through Homologous Recombination (HRR) ⁶⁶ HDR through Single Strand Annealing (SSA) ⁶⁶ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁶	12.1	ERCC1 ERCC4 EXO1 GEN1 XRCC3
6	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) ⁶⁶ Show member pathways Homologous recombination ³⁷ Homologous recombination ¹ Resolution of D-Loop Structures ⁶⁶ Resolution of D-loop Structures through Holliday Junction Intermediates ⁶⁶	11.79	EXO1 GEN1 XRCC3
7	Nucleotide excision repair ³⁷ Show member pathways Dual Incision in GG-NER ⁶⁶ Nucleotide Excision Repair Pathway ⁶⁴	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 Ifosfamide Pathway, Pharmacodynamics ⁶¹	10.95	ERCC1 ERCC4

Sources

GO Terms for Xeroderma Pigmentosum, Complementation Group G

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	9.58	ERCC1 ERCC3 ERCC4
3	nucleotide-excision repair complex	GO:0000109	9.5	ERCC1 ERCC4 ERCC5
4	DNA replication factor A complex	GO:0005662	9.43	ERCC5 XPA
5	nucleoplasm	GO:0005654	9.4	DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
6	ERCC4-ERCC1 complex	GO:0070522	9.33	ERCC1 ERCC4 XRCC1
7	nucleotide-excision repair factor 1 complex	GO:0000110	9.13	ERCC1 ERCC4 XPA
8	nucleus	GO:0005634	10.15	DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1

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

(show all 31)

#	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	9.93	ERCC1 ERCC3 ERCC4 ERCC5 XPA XRCC1
3	DNA repair	GO:0006281	9.93	DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
4	double-strand break repair via homologous recombination	GO:0000724	9.92	ERCC4 FEN1 GEN1 XRCC1 XRCC3
5	nucleotide-excision repair, DNA incision	GO:0033683	9.91	DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
6	response to UV	GO:0009411	9.89	DDB2 ERCC3 ERCC4 ERCC5 XPA
7	nucleotide-excision repair, preincision complex assembly	GO:0006294	9.88	DDB2 ERCC3 ERCC5 RAD23B XPA
8	nucleotide-excision repair, DNA incision, 5'-to lesion	GO:0006296	9.88	DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
9	global genome nucleotide-excision repair	GO:0070911	9.85	DDB2 ERCC1 ERCC3 ERCC4 RAD23B XPA
10	response to oxidative stress	GO:0006979	9.82	ERCC1 ERCC3 XPA
11	DNA recombination	GO:0006310	9.81	ERCC1 EXO1 XRCC3
12	UV-damage excision repair	GO:0070914	9.81	DDB2 ERCC1 GEN1 XPA
13	double-strand break repair via nonhomologous end joining	GO:0006303	9.8	ERCC1 ERCC4 XRCC1
14	nucleotide-excision repair, preincision complex stabilization	GO:0006293	9.8	DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
15	interstrand cross-link repair	GO:0036297	9.79	ERCC1 ERCC4 XRCC3
16	base-excision repair	GO:0006284	9.79	FEN1 XPA XRCC1
17	embryonic organ development	GO:0048568	9.78	ERCC1 ERCC3 RAD23B
18	nucleotide-excision repair, DNA damage recognition	GO:0000715	9.76	DDB2 RAD23B XPA
19	t-circle formation	GO:0090656	9.75	ERCC1 EXO1 XRCC3
20	nucleotide-excision repair, DNA incision, 3'-to lesion	GO:0006295	9.73	ERCC1 ERCC4 ERCC5
21	negative regulation of protection from non-homologous end joining at telomere	GO:1905765	9.72	ERCC1 ERCC4 XRCC1
22	telomeric DNA-containing double minutes formation	GO:0061819	9.71	ERCC1 ERCC4 XRCC1
23	regulation of centrosome duplication	GO:0010824	9.65	GEN1 XRCC3
24	isotype switching	GO:0045190	9.64	ERCC1 EXO1
25	positive regulation of mitotic cell cycle spindle assembly checkpoint	GO:0090267	9.63	GEN1 XRCC3
26	negative regulation of telomere maintenance	GO:0032205	9.62	ERCC1 ERCC4
27	nucleotide-excision repair involved in interstrand cross-link repair	GO:1901255	9.6	ERCC4 XPA
28	resolution of mitotic recombination intermediates	GO:0071140	9.59	GEN1 XRCC3
29	nucleotide-excision repair	GO:0006289	9.5	DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
30	UV protection	GO:0009650	9.1	ERCC1 ERCC3 ERCC4 ERCC5 FEN1 XPA
31	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 26)

#	Name	GO ID	Score	Top Affiliating Genes
1	catalytic activity	GO:0003824	9.87	ERCC5 EXO1 FEN1 GEN1
2	double-stranded DNA binding	GO:0003690	9.81	ERCC5 EXO1 FEN1 GEN1
3	single-stranded DNA binding	GO:0003697	9.8	ERCC1 ERCC4 ERCC5 GEN1 RAD23B
4	protein C-terminus binding	GO:0008022	9.79	ERCC1 ERCC3 ERCC4
5	protein N-terminus binding	GO:0047485	9.77	ERCC3 ERCC4 ERCC5
6	hydrolase activity, acting on ester bonds	GO:0016788	9.7	ERCC5 EXO1 FEN1
7	endodeoxyribonuclease activity	GO:0004520	9.67	ERCC4 ERCC5 GEN1
8	5'-flap endonuclease activity	GO:0017108	9.65	EXO1 FEN1 GEN1
9	exonuclease activity	GO:0004527	9.63	EXO1 FEN1
10	nuclease activity	GO:0004518	9.63	ERCC1 ERCC4 ERCC5 EXO1 FEN1 GEN1
11	DNA-dependent ATPase activity	GO:0008094	9.62	ERCC3 XRCC3
12	four-way junction DNA binding	GO:0000400	9.61	GEN1 XRCC3
13	single-stranded DNA 5'-3' exodeoxyribonuclease activity	GO:0045145	9.61	EXO1 FEN1 GEN1
14	RNA-DNA hybrid ribonuclease activity	GO:0004523	9.6	EXO1 FEN1
15	5'-3' exonuclease activity	GO:0008409	9.58	EXO1 FEN1
16	TFIID-class transcription factor complex binding	GO:0001094	9.58	ERCC1 ERCC4
17	crossover junction endodeoxyribonuclease activity	GO:0008821	9.56	GEN1 XRCC3
18	single-stranded DNA endodeoxyribonuclease activity	GO:0000014	9.55	ERCC1 ERCC4
19	3' overhang single-stranded DNA endodeoxyribonuclease activity	GO:1990599	9.54	ERCC1 ERCC4 XRCC1
20	double-stranded DNA 5'-3' exodeoxyribonuclease activity	GO:0051908	9.5	EXO1 FEN1 GEN1
21	flap endonuclease activity	GO:0048256	9.43	EXO1 FEN1 GEN1
22	endonuclease activity	GO:0004519	9.43	ERCC1 ERCC4 ERCC5 EXO1 FEN1 GEN1
23	damaged DNA binding	GO:0003684	9.23	DDB2 ERCC1 ERCC3 ERCC4 FEN1 RAD23B
24	protein binding	GO:0005515	10.36	DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
25	DNA binding	GO:0003677	10.16	DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
26	hydrolase activity	GO:0016787	10.08	ERCC1 ERCC3 ERCC4 ERCC5 EXO1 FEN1

Sources

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⁷⁶ Wikipedia

Xeroderma Pigmentosum, Complementation Group G (XP-G)

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group G

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group G:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Xeroderma Pigmentosum, Complementation Group G

Related Diseases for Xeroderma Pigmentosum, Complementation Group G

Diseases in the Xeroderma Pigmentosum, Complementation Group D family:

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

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

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group G

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group G:

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

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

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group G

Genetic Tests for Xeroderma Pigmentosum, Complementation Group G

Genetic tests related to Xeroderma Pigmentosum, Complementation Group G:

Anatomical Context for Xeroderma Pigmentosum, Complementation Group G

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

Publications for Xeroderma Pigmentosum, Complementation Group G

Articles related to Xeroderma Pigmentosum, Complementation Group G:

Genes for Xeroderma Pigmentosum, Complementation Group G

Genes related to Xeroderma Pigmentosum, Complementation Group G (1 elite genes):

Variations for Xeroderma Pigmentosum, Complementation Group G

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

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

Expression for Xeroderma Pigmentosum, Complementation Group G

Pathways for Xeroderma Pigmentosum, Complementation Group G

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

GO Terms for Xeroderma Pigmentosum, Complementation Group G

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

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

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

Sources for Xeroderma Pigmentosum, Complementation Group G