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

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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 ⁵³

Xeroderma Pigmentosum, Group G ⁵⁷ ²⁸ ¹² ⁵ ⁷¹

Xeroderma Pigmentosum Vii ⁵⁷ ¹¹ ⁷³

Xpg ⁵⁷ ¹¹ ⁷⁵

Xp7 ⁵⁷ ¹¹ ⁷³

Xeroderma Pigmentosum Group G ¹¹ ¹⁴

Xp Group G ¹¹ ⁷³

Xeroderma Pigmentosum, Group G/cockayne Syndrome ⁵⁷

Xeroderma Pigmentosum Group G/cockayne Syndrome ⁵

Xeroderma Pigmentosum Complementation Group G ⁷³

Xeroderma Pigmentosum, Type 7 ⁷⁵

Xp, Group G ⁵⁷

Xp-G/cs ⁷³

Xpgc ⁵⁷

Xp-G ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
variable severity
some patients have no neurologic abnormalities

Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases
Anatomical: Neuronal diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Xeroderma pigmentosum

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Summaries for Xeroderma Pigmentosum, Complementation Group G

UniProtKB/Swiss-Prot: ⁷³ 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 cerebrooculofacioskeletal syndrome and xeroderma pigmentosum, complementation group a. An important gene associated with Xeroderma Pigmentosum, Complementation Group G is ERCC5 (ERCC Excision Repair 5, Endonuclease), and among its related pathways/superpathways are Homology Directed Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include skin, brain and lung, and related phenotypes are spasticity and ataxia

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) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A xeroderma pigmentosum that has material basis in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33.

Wikipedia ⁷⁵ Xeroderma pigmentosum, type 7: Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... more...

Xpg: The acronym XPG can refer to the... more...

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Related Diseases for Xeroderma Pigmentosum, Complementation Group G

Diseases in the Xeroderma Pigmentosum, Complementation Group a family:

Xeroderma Pigmentosum, Complementation Group C	Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group E	Xeroderma Pigmentosum, Complementation Group F
Xeroderma Pigmentosum, Complementation Group G	Xeroderma Pigmentosum, Complementation Group B

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

(show top 50) (show all 130)

#	Related Disease	Score	Top Affiliating Genes
1	cerebrooculofacioskeletal syndrome	31.3	XPA UVSSA RAD23B ERCC6 ERCC5 ERCC4
2	xeroderma pigmentosum, complementation group a	31.1	XRCC1 XPC XPA RAD23B LIG1 H2AC18
3	skin carcinoma	30.6	XPC XPA H2AC18 ERCC6 ERCC3 ERCC2
4	cerebrooculofacioskeletal syndrome 3	30.5	ERCC5 BIVM-ERCC5
5	xeroderma pigmentosum-cockayne syndrome complex	30.4	ERCC5 ERCC4 ERCC3 ERCC2 BIVM-ERCC5
6	cockayne syndrome	30.3	XPC XPA UVSSA FEN1 ERCC6 ERCC5
7	xeroderma pigmentosum, complementation group d	30.3	XRCC1 XPA ERCC3 ERCC2 ERCC1
8	xeroderma pigmentosum, complementation group b	30.2	XPA LIG1 ERCC6 ERCC3 ERCC2 ERCC1
9	xeroderma pigmentosum, complementation group e	30.1	XPC XPA ERCC5 DDB2 DDB1
10	cerebrooculofacioskeletal syndrome 2	30.1	ERCC6 ERCC2
11	xeroderma pigmentosum, variant type	30.0	XRCC1 XPC XPA UVSSA RAD23B LIG1
12	cerebrooculofacioskeletal syndrome 1	30.0	UVSSA ERCC6 ERCC5 ERCC3 ERCC2 ERCC1
13	xeroderma pigmentosum, complementation group f	29.7	XRCC1 XPA RAD23B LIG1 H2AC18 ERCC6
14	xeroderma pigmentosum, complementation group c	29.5	XRCC1 XPC XPA RAD23B LIG1 H2AC18
15	trichothiodystrophy	29.1	XRCC1 XPC XPA UVSSA RAD23B LIG1
16	cockayne syndrome a	28.9	XRCC1 XPC XPA UVSSA RAD23B LIG1
17	lung cancer	10.4
18	trichothiodystrophy 2, photosensitive	10.3	ERCC3 ERCC2
19	prostate calculus	10.3	XPC ERCC3
20	pectus excavatum	10.3	ERCC5 BIVM-ERCC5
21	hair disease	10.3	H2AC18 ERCC6 ERCC3
22	spinocerebellar ataxia type 1 with axonal neuropathy	10.3	XRCC1 H2AC18 FEN1
23	sporadic breast cancer	10.3	XRCC1 H2AC18 ERCC6
24	photoparoxysmal response 1	10.3	XPA ERCC6
25	fanconi anemia, complementation group q	10.3	ERCC6 ERCC4
26	skin benign neoplasm	10.3	XPA ERCC3 ERCC2
27	testicular disease	10.3	H2AC18 ERCC6 ERCC1
28	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	10.3	XRCC1 LIG1 FEN1
29	autosomal recessive cerebellar ataxia	10.3	XRCC1 H2AC18 ERCC6
30	testicular cancer	10.3	H2AC18 ERCC6 ERCC2 ERCC1
31	small cell cancer of the lung	10.3
32	melanoma	10.3
33	nijmegen breakage syndrome	10.3	LIG1 H2AC18 EXO1 ERCC6
34	gastric cancer	10.2
35	parkinsonism with spasticity, x-linked	10.2	ERCC3 ERCC2
36	seckel syndrome	10.2	XRCC1 H2AC18 EXO1 ERCC6
37	xeroderma pigmentosum group e	10.2	XPA H2AC18 ERCC6 DDB2 DDB1
38	trichothiodystrophy 3, photosensitive	10.2	ERCC6 ERCC3 ERCC2 DDB2 CETN2
39	hutchinson-gilford progeria syndrome	10.2	H2AC18 ERCC6 ERCC4
40	ataxia-telangiectasia	10.2	XRCC1 XPA LIG1 ERCC3
41	rothmund-thomson syndrome, type 2	10.2	H2AC18 FEN1 EXO1 ERCC6 ERCC3 ERCC2
42	basal cell carcinoma	10.2	XRCC1 XPA H2AC18 ERCC6 ERCC2 ERCC1
43	west syndrome	10.2
44	microcephaly	10.2
45	peripheral retinal degeneration	10.2
46	cataract	10.2
47	retinal degeneration	10.2
48	congenital nervous system abnormality	10.1	XRCC1 XPA H2AC18 ERCC6 ERCC3 ERCC2
49	cerebellar disease	10.1	XRCC1 H2AC18 ERCC6
50	de sanctis-cacchione syndrome	10.1	XPA UVSSA RAD23B ERCC6 ERCC3 ERCC2

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

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group G:

³⁰ (show all 13)

#	Description	HPO Frequency	HPO Source Accession
1	spasticity ³⁰	Occasional (7.5%)	HP:0001257
2	ataxia ³⁰	Occasional (7.5%)	HP:0001251
3	tremor ³⁰	Occasional (7.5%)	HP:0001337
4	growth delay ³⁰	Occasional (7.5%)	HP:0001510
5	pes cavus ³⁰	Occasional (7.5%)	HP:0001761
6	cataract ³⁰	Very rare (1%)	HP:0000518
7	global developmental delay ³⁰	Very rare (1%)	HP:0001263
8	microcephaly ³⁰	Very rare (1%)	HP:0000252
9	microphthalmia ³⁰	Very rare (1%)	HP:0000568
10	cutaneous photosensitivity ³⁰	Very rare (1%)	HP:0000992
11	infantile spasms ³⁰	Very rare (1%)	HP:0012469
12	small for gestational age ³⁰	Very rare (1%)	HP:0001518
13	defective dna repair after ultraviolet radiation damage ³⁰	Very rare (1%)	HP:0003079

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Laboratory Abnormalities:
defective dna repair after ultraviolet radiation damage

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

Head And Neck Head:
microcephaly (in some patients)

Growth Other:
poor growth (in some patients)

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

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

Skeletal Feet:
pes cavus (in some patients)

Clinical features from OMIM®:

278780 (Updated 08-Dec-2022)

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

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	10.19	DDB2 ERCC4 ERCC5 ERCC6 XRCC1
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	10.19	DDB2 ERCC1 ERCC4 ERCC5 ERCC6 EXO1
3	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	10.19	DDB2 ERCC1 ERCC4 ERCC5 ERCC6 EXO1

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.28	ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2	growth/size/body region	MP:0005378	10.28	CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
3	neoplasm	MP:0002006	10.22	DDB2 ERCC1 ERCC2 ERCC3 ERCC6 EXO1
4	nervous system	MP:0003631	10.2	CETN2 DDB1 ERCC1 ERCC2 ERCC3 ERCC6
5	cellular	MP:0005384	10.2	CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
6	endocrine/exocrine gland	MP:0005379	10.07	DDB1 ERCC1 ERCC2 ERCC3 EXO1 FEN1
7	reproductive system	MP:0005389	9.96	CETN2 DDB1 ERCC1 ERCC2 ERCC3 EXO1
8	mortality/aging	MP:0010768	9.86	CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
9	vision/eye	MP:0005391	9.81	CETN2 DDB1 ERCC1 ERCC2 ERCC4 ERCC6
10	integument	MP:0010771	9.36	DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC5

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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 ²⁸	ERCC5

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Anatomical Context for Xeroderma Pigmentosum, Complementation Group G

Organs/tissues related to Xeroderma Pigmentosum, Complementation Group G:

MalaCards : Skin, Brain, Lung, Breast

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Publications for Xeroderma Pigmentosum, Complementation Group G

Articles related to Xeroderma Pigmentosum, Complementation Group G:

(show top 50) (show all 177)

#	Title	Authors	PMID	Year
1	Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress. ⁶² ⁵⁷ ⁵	Soltys DT...Menck CF	23255472	2013
2	The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. ⁶² ⁵⁷ ⁵	Lalle P...Clarkson SG	11841555	2002
3	Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. ⁶² ⁵⁷ ⁵	Zafeiriou DI...Clarkson SG	11228268	2001
4	A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. ⁶² ⁵⁷ ⁵	Nouspikel T...Clarkson SG	9096355	1997
5	Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. ⁶² ⁵⁷ ⁵	Vermeulen W...Hoeijmakers JH	8317483	1993
6	Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation. ⁵⁷ ⁵	Arlett CF...Morley WN	11219864	1980
7	A seventh complementation group in excision-deficient xeroderma pigmentosum. ⁵⁷ ⁵	Keijzer W...Bootsma D	492197	1979
8	Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. ⁵³ ⁶² ⁵	Nouspikel T...Clarkson SG	7951246	1994
9	XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. ⁶² ⁵	Ito S...Tanaka K	17466625	2007
10	Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. ⁶² ⁵	Emmert S...Kraemer KH	12060391	2002
11	Conserved residues of human XPG protein important for nuclease activity and function in nucleotide excision repair. ⁶² ⁵	Constantinou A...Clarkson SG	10026181	1999
12	Xeroderma pigmentosum complementation group G--report of two cases. ⁶² ⁵⁷	Norris PG...Giannelli F	3620347	1987
13	Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method. ⁵	Shiomi N...Shiomi T	15082767	2004
14	Human nucleotide excision repair syndromes: molecular clues to unexpected intricacies. ⁵⁷	Hoeijmakers JH	7734202	1994
15	Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. ⁵	Jaeken J...Schweiger M	2478446	1989
16	A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneity. ⁵⁷	Ichihashi M...Matsumoto A	4031543	1985
17	Xeroderma pigmentosum--a unique variant with neurological involvement. ⁵	Chessbrough MJ	698095	1978
18	UV-induced apoptosis in XPG-deficient fibroblasts involves activation of CD95 and caspases but not p53. ⁵³ ⁶²	Clement V...Clarkson SG	17208056	2007
19	Relationships between genetic polymorphisms and anticancer drug cytotoxicity vis-à-vis the NCI-60 panel. ⁵³ ⁶²	Le Morvan V...Robert J	16981845	2006
20	Single nucleotide patch base excision repair is the major pathway for removal of thymine glycol from DNA in human cell extracts. ⁵³ ⁶²	Dianov GL...Bohr VA	10766805	2000
21	The Drosophila ortholog of the human XPG gene. ⁵³ ⁶²	Houle JF...Friedberg EC	10395909	1999
22	Involvement of Xeroderma Pigmentosum Complementation Group G (XPG) in epigenetic regulation of T-Helper (TH) cell differentiation during breast cancer. ⁶²	Pal R...Sarkar K	36037675	2022
23	XPG in the Nucleotide Excision Repair and Beyond: a study on the different functional aspects of XPG and its associated diseases. ⁶²	Pal R...Sarkar K	35596054	2022
24	Protective role of electrophile-reactive glutathione for DNA damage repair inhibitory effect of dibromoacetonitrile. ⁶²	Komaki Y...Ibuki Y	35725084	2022
25	XPG: a multitasking genome caretaker. ⁶²	Muniesa-Vargas A...Lans H	35230528	2022
26	Inhibition of nucleotide excision repair and damage response signaling by dibromoacetonitrile: A novel genotoxicity mechanism of a water disinfection byproduct. ⁶²	Komaki Y...Ibuki Y	34844342	2022
27	In silico identification of therapeutic compounds against microRNA targets in drug-resistant pancreatic ductal adenocarcinoma. ⁶²	Aier I...Varadwaj PK	32579088	2021
28	XPG gene polymorphisms and glioma susceptibility: a two-centre case-control study. ⁶²	Yuan L...Zeng L	33393424	2021
29	Modulation of DNA damage by XPF, XPG and ERCC1 gene polymorphisms in pesticide-exposed agricultural workers of Punjab, North-West India. ⁶²	Kaur K...Kaur R	33551103	2021
30	Inhibition of penicillin-binding protein 2a (PBP2a) in methicillin resistant Staphylococcus aureus (MRSA) by combination of oxacillin and a bioactive compound from Ramalinaroesleri. ⁶²	Goel M...Kumbukgolla WW	33278518	2021
31	XPG is Modulated by miR-4715-3p and rs873601 Genotypes in Lung Cancer. ⁶²	Yu W...Xiao S	33907465	2021
32	The crystal structure of human XPG, the xeroderma pigmentosum group G endonuclease, provides insight into nucleotide excision DNA repair. ⁶²	Gonzalez-Corrochano R...Fernandez-Tornero C	32821917	2020
33	Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E. ⁶²	Karagun E...Ozcan Y	32530099	2020
34	Rare exon 10 deletion in POLH gene in a family with xeroderma pigmentosum variant correlating with protein expression by immunohistochemistry. ⁶²	Borroni RG...Arbustini E	32635709	2020
35	Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations. ⁶²	Tsutakawa SE...Tainer JA	32522879	2020
36	Sunlight, Vitamin D, and Xeroderma Pigmentosum. ⁶²	Martens MC...Boeckmann L	32918226	2020
37	Association of XPG rs2094258 polymorphism with gastric cancer prognosis. ⁶²	Wang XQ...Wang MX	31558863	2019
38	XPG Asp1104His polymorphism increases colorectal cancer risk especially in Asians. ⁶²	Su J...Song J	30899401	2019
39	Overall survival of classical Hodgkins lymphoma in Saudi patients is affected by XPG repair gene polymorphism. ⁶²	Al Sayed Ahmed H...Fathallah MD	30588297	2019
40	Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype. ⁶²	Chikhaoui A...Yacoub-Youssef H	30838033	2019
41	Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. ⁶²	Ricotti R...Botta E	29749609	2018
42	Association between the XPG gene rs2094258 polymorphism and risk of gastric cancer. ⁶²	Zhang Z...Shi J	29732643	2018
43	Association of XPG gene rs751402 polymorphism with gastric cancer risk: a meta-analysis in the Chinese population. ⁶²	Liang J...Xia QR	29148016	2018
44	Clinical and genetic characteristics of xeroderma pigmentosum in Nepal. ⁶²	Espi P...Grange F	29178624	2018
45	XPG rs17655 G>C polymorphism associated with cancer risk: evidence from 60 studies. ⁶²	Zhao J...Ruan J	29779017	2018
46	Splice variants of the endonucleases XPF and XPG contain residual DNA repair capabilities and could be a valuable tool for personalized medicine. ⁶²	Lehmann J...Emmert S	29416673	2018
47	The Association Between XPG Gene Polymorphism and Gastric Cancer Risk. ⁶²	Su Y...Zhang Z	28832189	2017
48	Association between the polymorphisms in XPG gene and gastric cancer susceptibility in Chinese populations: A PRISMA-compliant meta-analysis. ⁶²	Xia J...Sun R	29049208	2017
49	XPG gene rs751402 C>T polymorphism and cancer risk: Evidence from 22 publications. ⁶²	Zhou H...Ruan J	28881835	2017
50	The association between XPG polymorphisms and cancer susceptibility: Evidence from observational studies. ⁶²	Han C...Zhang P	28796034	2017

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Genes for Xeroderma Pigmentosum, Complementation Group G

Genes related to Xeroderma Pigmentosum, Complementation Group G (2 elite genes):

(show all 42)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ERCC5	ERCC Excision Repair 5, Endonuclease	Protein Coding	1384.88	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	492197 698095 2478446 (more) 7951246 8317483 9096355 10026181 11219864 11228268 11841555 12060391 23255472 15082767 10395909 17208056 10766805 16981845
2	BIVM-ERCC5	BIVM-ERCC5 Readthrough	Protein Coding	429.43	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	492197 698095 2478446 (more) 7951246 8317483 9096355 10026181 11219864 11228268 11841555 12060391 23255472 15082767
3	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	15.75	DISEASES inferred ¹⁴ ¹⁴
4	H2AC18	H2A Clustered Histone 18	Protein Coding	11.14	DISEASES inferred ¹⁴ ¹⁴
5	XPA	XPA, DNA Damage Recognition And Repair Factor	Protein Coding	9.8	DISEASES inferred ¹⁴
6	ERCC3	ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit	Protein Coding	9.46	DISEASES inferred ¹⁴
7	ERCC2	ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit	Protein Coding	9.39	DISEASES inferred ¹⁴
8	ERCC1	ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit	Protein Coding	9.13	DISEASES inferred ¹⁴
9	RAD23B	RAD23 Homolog B, Nucleotide Excision Repair Protein	Protein Coding	9.07	DISEASES inferred ¹⁴
10	FEN1	Flap Structure-Specific Endonuclease 1	Protein Coding	8.62	DISEASES inferred ¹⁴
11	DDB2	Damage Specific DNA Binding Protein 2	Protein Coding	8.47	DISEASES inferred ¹⁴
12	ERCC4	ERCC Excision Repair 4, Endonuclease Catalytic Subunit	Protein Coding	8.18	DISEASES inferred ¹⁴
13	LIG1	DNA Ligase 1	Protein Coding	8.05	DISEASES inferred ¹⁴
14	GEN1	GEN1 Holliday Junction 5' Flap Endonuclease	Protein Coding	8.02	DISEASES inferred ¹⁴
15	CETN2	Centrin 2	Protein Coding	7.99	DISEASES inferred ¹⁴
16	DDB1	Damage Specific DNA Binding Protein 1	Protein Coding	7.98	DISEASES inferred ¹⁴
17	XRCC1	X-Ray Repair Cross Complementing 1	Protein Coding	7.88	DISEASES inferred ¹⁴
18	EXO1	Exonuclease 1	Protein Coding	7.78	DISEASES inferred ¹⁴
19	UVSSA	UV Stimulated Scaffold Protein A	Protein Coding	7.77	DISEASES inferred ¹⁴
20	XPC	XPC Complex Subunit, DNA Damage Recognition And Repair Factor	Protein Coding	7.67	DISEASES inferred ¹⁴
21	ERCC8	ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit	Protein Coding	7.52	DISEASES inferred ¹⁴
22	GTF2H1	General Transcription Factor IIH Subunit 1	Protein Coding	7.49	DISEASES inferred ¹⁴
23	MUS81	MUS81 Structure-Specific Endonuclease Subunit	Protein Coding	7.42	DISEASES inferred ¹⁴
24	APEX1	Apurinic/Apyrimidinic Endodeoxyribonuclease 1	Protein Coding	7.37	DISEASES inferred ¹⁴
25	XRCC3	X-Ray Repair Cross Complementing 3	Protein Coding	7.35	DISEASES inferred ¹⁴
26	GTF2H5	General Transcription Factor IIH Subunit 5	Protein Coding	7.34	DISEASES inferred ¹⁴
27	OGG1	8-Oxoguanine DNA Glycosylase	Protein Coding	7.32	DISEASES inferred ¹⁴
28	XAB2	XPA Binding Protein 2	Protein Coding	7.28	DISEASES inferred ¹⁴
29	RAD52	RAD52 Homolog, DNA Repair Protein	Protein Coding	7.23	DISEASES inferred ¹⁴
30	RAD51	RAD51 Recombinase	Protein Coding	7.09	DISEASES inferred ¹⁴
31	GTF2H4	General Transcription Factor IIH Subunit 4	Protein Coding	7.04	DISEASES inferred ¹⁴
32	SLX1B	SLX1 Homolog B, Structure-Specific Endonuclease Subunit	Protein Coding	7.02	DISEASES inferred ¹⁴
33	SLX1A	SLX1 Homolog A, Structure-Specific Endonuclease Subunit	Protein Coding	7.02	DISEASES inferred ¹⁴
34	EME1	Essential Meiotic Structure-Specific Endonuclease 1	Protein Coding	6.99	DISEASES inferred ¹⁴
35	GTF2H2	General Transcription Factor IIH Subunit 2	Protein Coding	6.98	DISEASES inferred ¹⁴
36	LIG3	DNA Ligase 3	Protein Coding	6.93	DISEASES inferred ¹⁴
37	CCNH	Cyclin H	Protein Coding	6.92	DISEASES inferred ¹⁴
38	GTF2H3	General Transcription Factor IIH Subunit 3	Protein Coding	6.92	DISEASES inferred ¹⁴
39	SLX4	SLX4 Structure-Specific Endonuclease Subunit	Protein Coding	6.84	DISEASES inferred ¹⁴
40	POLL	DNA Polymerase Lambda	Protein Coding	6.82	DISEASES inferred ¹⁴
41	MSH3	MutS Homolog 3	Protein Coding	6.82	DISEASES inferred ¹⁴
42	POLH	DNA Polymerase Eta	Protein Coding	6.79	DISEASES inferred ¹⁴

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Variations for Xeroderma Pigmentosum, Complementation Group G

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

⁵ (show top 50) (show all 149)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro)	SNV	Pathogenic	16573	rs121434575	GRCh37: 13:103520502-103520502 GRCh38: 13:102868152-102868152
2	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.1494del (p.Asp499fs)	DEL	Pathogenic	16575	rs786200920	GRCh37: 13:103514990-103514990 GRCh38: 13:102862640-102862640
3	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.2751del (p.Lys917fs)	DEL	Pathogenic	16576	rs752661599	GRCh37: 13:103524612-103524612 GRCh38: 13:102872262-102872262
4	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.406C>T (p.Gln136Ter)	SNV	Pathogenic	16578	rs121434577	GRCh37: 13:103506663-103506663 GRCh38: 13:102854313-102854313
5	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp)	SNV	Pathogenic	41495	rs267607281	GRCh37: 13:103498699-103498699 GRCh38: 13:102846349-102846349
6	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.2904G>C (p.Trp968Cys)	SNV	Pathogenic	41496	rs267607280	GRCh37: 13:103525633-103525633 GRCh38: 13:102873283-102873283
7	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter)	SNV	Pathogenic	16566	rs121434570	GRCh37: 13:103524747-103524747 GRCh38: 13:102872397-102872397
8	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.840_841dup (p.Val281fs)	MICROSAT	Pathogenic	802997	rs1595382501	GRCh37: 13:103514020-103514021 GRCh38: 13:102861670-102861671
9	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs)	DEL	Pathogenic	16574	rs786200919	GRCh37: 13:103514613-103514616 GRCh38: 13:102862263-102862266
10	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter)	SNV	Pathogenic	16570	rs121434572	GRCh37: 13:103513971-103513971 GRCh38: 13:102861621-102861621
11	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.1975del (p.Ser659fs)	DEL	Pathogenic	1696064		GRCh37: 13:103518035-103518035 GRCh38: 13:102865685-102865685
12	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter)	SNV	Pathogenic	16571	rs121434573	GRCh37: 13:103508460-103508460 GRCh38: 13:102856110-102856110
13	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.215C>A (p.Pro72His)	SNV	Pathogenic	16572	rs121434574	GRCh37: 13:103504594-103504594 GRCh38: 13:102852244-102852244
14	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter)	SNV	Likely Pathogenic	208576	rs9514067	GRCh37: 13:103527930-103527930 GRCh38: 13:102875580-102875580
15	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter)	SNV	Likely Pathogenic	522358	rs1244074570	GRCh37: 13:103519015-103519015 GRCh38: 13:102866665-102866665
16	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr)	SNV	Likely Pathogenic	1252023		GRCh37: 13:103519054-103519054 GRCh38: 13:102866704-102866704
17	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val)	SNV	Conflicting Interpretations Of Pathogenicity	310941	rs376411022	GRCh37: 13:103528120-103528120 GRCh38: 13:102875770-102875770
18	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val)	SNV	Conflicting Interpretations Of Pathogenicity	134169	rs2227871	GRCh37: 13:103528048-103528048 GRCh38: 13:102875698-102875698
19	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln)	SNV	Conflicting Interpretations Of Pathogenicity	134185	rs61749896	GRCh37: 13:103513972-103513972 GRCh38: 13:102861622-102861622
20	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.1641C>T (p.Asn547=)	SNV	Conflicting Interpretations Of Pathogenicity	310924	rs200615101	GRCh37: 13:103515140-103515140 GRCh38: 13:102862790-102862790
21	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.1110T>A (p.Arg370=)	SNV	Conflicting Interpretations Of Pathogenicity	310918	rs150791877	GRCh37: 13:103514609-103514609 GRCh38: 13:102862259-102862259
22	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)	SNV	Conflicting Interpretations Of Pathogenicity	134195	rs4150319	GRCh37: 13:103515288-103515288 GRCh38: 13:102862938-102862938
23	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)	SNV	Conflicting Interpretations Of Pathogenicity Uncertain Significance	310936	rs146344855	GRCh37: 13:103524687-103524687 GRCh38: 13:102872337-102872337
24	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly)	SNV	Uncertain Significance	802999	rs1595383704	GRCh37: 13:103515286-103515286 GRCh38: 13:102862936-102862936
25	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.1259G>A (p.Arg420His)	SNV	Uncertain Significance	134193	rs143667470	GRCh37: 13:103514758-103514758 GRCh38: 13:102862408-102862408
26	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.3486C>T (p.Leu1162=)	SNV	Uncertain Significance	310942	rs761650522	GRCh37: 13:103528178-103528178 GRCh38: 13:102875828-102875828
27	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.664A>G (p.Met222Val)	SNV	Uncertain Significance	882639	rs1391956862	GRCh37: 13:103510760-103510760 GRCh38: 13:102858410-102858410
28	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.932C>G (p.Ser311Cys)	SNV	Uncertain Significance	883414	rs2307491	GRCh37: 13:103514431-103514431 GRCh38: 13:102862081-102862081
29	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.1030A>G (p.Thr344Ala)	SNV	Uncertain Significance	883415	rs142927249	GRCh37: 13:103514529-103514529 GRCh38: 13:102862179-102862179
30	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr)	SNV	Uncertain Significance	997612	rs201911663	GRCh37: 13:103528246-103528246 GRCh38: 13:102875896-102875896
31	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.1917A>G (p.Glu639=)	SNV	Uncertain Significance	310925	rs765554006	GRCh37: 13:103515416-103515416 GRCh38: 13:102863066-102863066
32	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.2190T>C (p.Asp730=)	SNV	Uncertain Significance	310928	rs148103512	GRCh37: 13:103518252-103518252 GRCh38: 13:102865902-102865902
33	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.2534-10T>G	SNV	Uncertain Significance	310933	rs199562917	GRCh37: 13:103520453-103520453 GRCh38: 13:102868103-102868103
34	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.2995T>G (p.Leu999Val)	SNV	Uncertain Significance	134175	rs368550097	GRCh37: 13:103527687-103527687 GRCh38: 13:102875337-102875337
35	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.1287T>C (p.Asp429=)	SNV	Uncertain Significance	310921	rs146853061	GRCh37: 13:103514786-103514786 GRCh38: 13:102862436-102862436
36	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.3003A>G (p.Gln1001=)	SNV	Uncertain Significance	310939	rs886049942	GRCh37: 13:103527695-103527695 GRCh38: 13:102875345-102875345
37	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.380+3A>T	SNV	Uncertain Significance	1705488		GRCh37: 13:103506225-103506225 GRCh38: 13:102853875-102853875
38	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu)	SNV	Uncertain Significance	134159	rs34291397	GRCh37: 13:103498672-103498672 GRCh38: 13:102846322-102846322
39	ERCC5, BIVM-ERCC5	NM_000123.3(ERCC5):c.-241G>C	SNV	Uncertain Significance	310905	rs4150249	GRCh37: 13:103498376-103498376 GRCh38: 13:102846026-102846026
40	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.1131T>A (p.Ala377=)	SNV	Uncertain Significance	310919	rs764744058	GRCh37: 13:103514630-103514630 GRCh38: 13:102862280-102862280
41	ERCC5, BIVM-ERCC5	NM_000123.3(ERCC5):c.-380C>T	SNV	Uncertain Significance	882587	rs1331645993	GRCh37: 13:103498237-103498237 GRCh38: 13:102845887-102845887
42	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.2280C>T (p.Ile760=)	SNV	Uncertain Significance	744000	rs773823921	GRCh37: 13:103518692-103518692 GRCh38: 13:102866342-102866342
43	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.3427G>A (p.Ala1143Thr)	SNV	Uncertain Significance	134174	rs55798001	GRCh37: 13:103528119-103528119 GRCh38: 13:102875769-102875769
44	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.3492C>T (p.Thr1164=)	SNV	Uncertain Significance	719027	rs148782406	GRCh37: 13:103528184-103528184 GRCh38: 13:102875834-102875834
45	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.2800G>A (p.Glu934Lys)	SNV	Uncertain Significance	727862	rs201274165	GRCh37: 13:103524669-103524669 GRCh38: 13:102872319-102872319
46	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.592C>A (p.Pro198Thr)	SNV	Uncertain Significance	134179	rs141369732	GRCh37: 13:103510688-103510688 GRCh38: 13:102858338-102858338
47	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.294G>A (p.Ala98=)	SNV	Uncertain Significance	740330	rs780506840	GRCh37: 13:103506136-103506136 GRCh38: 13:102853786-102853786
48	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.1460C>T (p.Pro487Leu)	SNV	Uncertain Significance	310922	rs560626350	GRCh37: 13:103514959-103514959 GRCh38: 13:102862609-102862609
49	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr)	SNV	Uncertain Significance	134171	rs144208043	GRCh37: 13:103527798-103527798 GRCh38: 13:102875448-102875448
50	BIVM-ERCC5, ERCC5	NM_000123.4(ERCC5):c.32A>C (p.Glu11Ala)	SNV	Uncertain Significance	881013	rs1266019512	GRCh37: 13:103498648-103498648 GRCh38: 13:102846298-102846298

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

⁷³

#	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

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:

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Homology Directed Repair ⁶⁶ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex ⁶⁶ DNA Double-Strand Break Repair ⁶⁶ DNA Repair ⁶⁶ G2/M DNA damage checkpoint ⁶⁶ HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) ⁶⁶ HDR through MMEJ (alt-NHEJ) ⁶⁶ Processing of DNA double-strand break ends ⁶⁶	13.13	XRCC1 XPC XPA UVSSA RAD23B LIG1
2	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	12.93	CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
3	DNA repair pathways, full network ⁷⁴ Show member pathways Defective Mismatch Repair Associated With MSH2 ⁶⁶ Defective Mismatch Repair Associated With MSH3 ⁶⁶ Defective Mismatch Repair Associated With MSH6 ⁶⁶ Diseases of Mismatch Repair (MMR) ⁶⁶ Dual Incision in GG-NER ⁶⁶ Homologous recombination ⁷⁴ Mismatch Repair ⁶⁶ Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) ⁶⁶ Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) ⁶⁶ Non-homologous end joining ⁷⁴ Nucleotide excision repair ⁷⁴ Nucleotide excision repair in xeroderma pigmentosum ⁷⁴ Nucleotide Excision Repair Pathway ⁶⁴	12.74	XRCC1 XPC XPA UVSSA RAD23B LIG1
4	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ SREBP Proteolysis ⁶⁴	12.26	ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
5	Base excision repair ⁷⁴ Show member pathways Abasic sugar-phosphate removal via the single-nucleotide replacement pathway ⁶⁶ APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway ⁶⁶ Cell cycle Transition and termination of DNA replication ²² Displacement of DNA glycosylase by APEX1 ⁶⁶ DNA mismatch repair ⁷⁴ Gap-filling DNA repair synthesis and ligation in GG-NER ⁶⁶ Mismatch Repair in Eukaryotes ⁶⁴ PCNA-Dependent Long Patch Base Excision Repair ⁶⁶ POLB-Dependent Long Patch Base Excision Repair ⁶⁶ Resolution of Abasic Sites (AP sites) ⁶⁶ Resolution of AP sites via the multiple-nucleotide patch replacement pathway ⁶⁶ Resolution of AP sites via the single-nucleotide replacement pathway ⁶⁶	12.16	XRCC1 LIG1 FEN1 EXO1
6	DNA Damage ³	11.83	DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
7	p53 transcriptional gene network ⁷⁴	11.64	XPC ERCC5 DDB2
8	RNA Polymerase I Transcription Termination ⁶⁶ Show member pathways Assembly of RNA Polymerase-I Initiation Complex ⁶⁴ RNA Polymerase I Transcription Initiation ⁶⁶	11.6	ERCC6 ERCC3 ERCC2
9	DNA IR-damage and cellular response via ATR ⁷⁴	11.52	XPA FEN1 EXO1
10	Transcription_P53 signaling pathway ²²	11.44	XPC XPA ERCC3 ERCC2
11	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	11.31	ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 XPA

Sources

GO Terms for Xeroderma Pigmentosum, Complementation Group G

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	10.63	BIVM-ERCC5 CETN2 DDB1 DDB2 ERCC1 ERCC2
2	nucleoplasm	GO:0005654	10.21	CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
3	chromosome, telomeric region	GO:0000781	10.13	DDB1 ERCC1 ERCC4 FEN1 XRCC1
4	chromosome	GO:0005694	10	XPC UVSSA H2AC18 ERCC5 ERCC4 DDB2
5	site of DNA damage	GO:0090734	9.97	DDB2 ERCC6 XPC XRCC1
6	transcription factor TFIIH core complex	GO:0000439	9.81	ERCC3 ERCC2
7	ERCC4-ERCC1 complex	GO:0070522	9.8	XRCC1 ERCC4 ERCC1
8	Cul4B-RING E3 ubiquitin ligase complex	GO:0031465	9.78	DDB2 DDB1
9	XPC complex	GO:0071942	9.73	XPC RAD23B CETN2
10	nucleotide-excision repair factor 1 complex	GO:0000110	9.63	XPA ERCC4 ERCC1
11	DNA replication factor A complex	GO:0005662	9.49	XPA ERCC5
12	nucleotide-excision repair complex	GO:0000109	9.23	XPC ERCC5 ERCC4 ERCC1

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	DNA repair	GO:0006281	10.32	XRCC1 XPC XPA UVSSA RAD23B LIG1
2	cellular response to DNA damage stimulus	GO:0006974	10.28	EXO1 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
3	response to oxidative stress	GO:0006979	10.23	ERCC6 ERCC3 ERCC2 ERCC1
4	double-strand break repair via homologous recombination	GO:0000724	10.19	ERCC4 ERCC5 FEN1 GEN1
5	response to UV	GO:0009411	10.13	DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
6	cellular response to UV	GO:0034644	10.12	ERCC4 DDB2 DDB1
7	embryonic organ development	GO:0048568	10.1	RAD23B ERCC3 ERCC1
8	double-strand break repair via nonhomologous end joining	GO:0006303	10.1	ERCC1 ERCC4 XRCC1
9	UV-damage excision repair	GO:0070914	10.1	XPC XPA ERCC1 DDB2 DDB1
10	base-excision repair	GO:0006284	10.09	ERCC6 FEN1 LIG1 XPA XRCC1
11	mismatch repair	GO:0006298	10.08	XPC LIG1 EXO1
12	nucleic acid phosphodiester bond hydrolysis	GO:0090305	10.08	GEN1 FEN1 EXO1 ERCC5 ERCC4 BIVM-ERCC5
13	transcription-coupled nucleotide-excision repair	GO:0006283	10.07	UVSSA ERCC6 ERCC5 ERCC3 ERCC2
14	regulation of mitotic cell cycle phase transition	GO:1901990	10.06	XPC ERCC3 ERCC2 DDB1
15	telomeric DNA-containing double minutes formation	GO:0061819	9.99	ERCC1 ERCC4 XRCC1
16	negative regulation of protection from non-homologous end joining at telomere	GO:1905765	9.97	ERCC1 ERCC4 XRCC1
17	single strand break repair	GO:0000012	9.95	XRCC1 ERCC6
18	response to UV-B	GO:0010224	9.94	XPC ERCC6
19	hair cell differentiation	GO:0035315	9.94	ERCC3 ERCC2
20	obsolete nucleotide-excision repair, DNA incision, 5'-to lesion	GO:0006296	9.93	ERCC5 ERCC4 ERCC1
21	negative regulation of telomere maintenance	GO:0032205	9.92	ERCC4 ERCC1
22	transcription elongation by RNA polymerase I	GO:0006362	9.91	ERCC6 ERCC2
23	pyrimidine dimer repair	GO:0006290	9.91	ERCC6 DDB2
24	pyrimidine dimer repair by nucleotide-excision repair	GO:0000720	9.89	XPC ERCC1
25	nucleotide-excision repair involved in interstrand cross-link repair	GO:1901255	9.88	XPA ERCC4
26	obsolete nucleotide-excision repair, DNA incision	GO:0033683	9.83	ERCC2 ERCC3 XPA
27	UV protection	GO:0009650	9.77	XPA FEN1 ERCC5 ERCC4 ERCC3 ERCC2
28	obsolete nucleotide-excision repair, DNA incision, 3'-to lesion	GO:0006295	9.74	ERCC5 ERCC4
29	nucleotide-excision repair, DNA duplex unwinding	GO:0000717	9.73	ERCC3 ERCC2
30	nucleic acid metabolic process	GO:0090304	9.72	ERCC5 ERCC2 BIVM-ERCC5
31	nucleotide-excision repair	GO:0006289	9.66	XPC XPA RAD23B ERCC5 ERCC4 ERCC3

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

(show all 22)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-containing complex binding	GO:0044877	10.29	XPC ERCC6 ERCC5 DDB2 DDB1
2	protein C-terminus binding	GO:0008022	10.21	ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
3	protein N-terminus binding	GO:0047485	10.16	ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
4	hydrolase activity	GO:0016787	10.13	BIVM-ERCC5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
5	DNA binding	GO:0003677	10.07	BIVM-ERCC5 DDB1 DDB2 ERCC1 ERCC2 ERCC3
6	promoter-specific chromatin binding	GO:1990841	10.06	ERCC1 ERCC3 ERCC4
7	single-stranded DNA binding	GO:0003697	10.06	XPC RAD23B ERCC5 ERCC4 ERCC1 BIVM-ERCC5
8	catalytic activity	GO:0003824	9.93	BIVM-ERCC5 ERCC5 EXO1 FEN1 GEN1
9	5'-3' exonuclease activity	GO:0008409	9.91	FEN1 EXO1
10	5'-flap endonuclease activity	GO:0017108	9.91	EXO1 FEN1 GEN1
11	TFIID-class transcription factor complex binding	GO:0001094	9.9	ERCC4 ERCC1
12	RNA-DNA hybrid ribonuclease activity	GO:0004523	9.88	FEN1 EXO1
13	single-stranded DNA endodeoxyribonuclease activity	GO:0000014	9.87	ERCC4 ERCC1
14	bubble DNA binding	GO:0000405	9.86	XPC ERCC5
15	DNA helicase activity	GO:0003678	9.85	ERCC6 ERCC3 ERCC2
16	3' overhang single-stranded DNA endodeoxyribonuclease activity	GO:1990599	9.85	XRCC1 ERCC4 ERCC1
17	DNA damage sensor activity	GO:0140612	9.83	XPC RAD23B
18	flap endonuclease activity	GO:0048256	9.8	FEN1 EXO1
19	endonuclease activity	GO:0004519	9.76	GEN1 FEN1 EXO1 ERCC5 ERCC4 BIVM-ERCC5
20	nuclease activity	GO:0004518	9.73	BIVM-ERCC5 ERCC4 ERCC5 EXO1 FEN1 GEN1
21	hydrolase activity, acting on ester bonds	GO:0016788	9.71	FEN1 EXO1 ERCC5 BIVM-ERCC5
22	damaged DNA binding	GO:0003684	9.68	XRCC1 XPC XPA RAD23B FEN1 ERCC5

Sources

Sources for Xeroderma Pigmentosum, Complementation Group G

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XPG MCID: XRD023 MIFTS: 54	Xeroderma Pigmentosum, Complementation Group G (XPG) Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Xeroderma Pigmentosum, Complementation Group G (XPG)

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group G

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group G:

Characteristics:

Inheritance:

OMIM®:

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 a 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

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group G:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

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 (2 elite genes):

Variations for Xeroderma Pigmentosum, Complementation Group G

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

UniProtKB/Swiss-Prot 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