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

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Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group B

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group B:

Name: Xeroderma Pigmentosum, Complementation Group B ⁵⁷

Xeroderma Pigmentosum Group B ¹¹ ²⁸ ⁵ ¹⁴

Xeroderma Pigmentosum, Group B ⁵⁷ ¹² ⁷¹

Xpb ⁵⁷ ¹¹ ⁷⁵

Xp Group B ¹¹ ⁷³

Xpbc ⁵⁷ ¹¹

Xeroderma Pigmentosum Group B with Cockayne Syndrome ⁷³

Xeroderma Pigmentosum Complementation Group B ⁷³

Xeroderma Pigmentosum Ii ⁷³

Xp, Group B ⁵⁷

Xp-B/cs ⁷³

Xp-B ⁷³

Xp2 ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

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 B

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-B patients present features of Cockayne syndrome, including 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 B, also known as xeroderma pigmentosum group b, is related to xeroderma pigmentosum, complementation group a and xeroderma pigmentosum-cockayne syndrome complex, and has symptoms including ataxia An important gene associated with Xeroderma Pigmentosum, Complementation Group B is ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are RNA Polymerase I Promoter Opening and Processing of Capped Intron-Containing Pre-mRNA. Affiliated tissues include skin, b cells and breast, and related phenotypes are intellectual disability and hyperreflexia

OMIM®: ⁵⁷ For a general discussion of xeroderma pigmentosum, see XPA (278700), and of Cockayne syndrome, see CSA (216400). Cleaver (1990) provided a review of the causes of xeroderma pigmentosum. (610651) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A xeroderma pigmentosum characterized by that has material basis in mutation in the ERCC3 gene on chromosome 2q14.

Wikipedia: ⁷⁵ XPB (xeroderma pigmentosum type B) is an ATP-dependent DNA helicase in humans that is a part of the... more...

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Related Diseases for Xeroderma Pigmentosum, Complementation Group B

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 B via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)

#	Related Disease	Score	Top Affiliating Genes
1	xeroderma pigmentosum, complementation group a	31.0	XPA LIG1 ERCC6 ERCC3 ERCC2 ERCC1
2	xeroderma pigmentosum-cockayne syndrome complex	30.3	ERCC3 ERCC2
3	skin carcinoma	30.2	XPA ERCC6 ERCC3 ERCC2
4	trichothiodystrophy	30.1	XPA LIG1 GTF2H5 GTF2H2 ERCC6 ERCC3
5	trichothiodystrophy 2, photosensitive	30.0	ERCC3 ERCC2
6	photoparoxysmal response 1	29.9	XPA ERCC6
7	cockayne syndrome	29.6	XPA GTF2H2 ERCC6 ERCC3 ERCC2 ERCC1
8	xeroderma pigmentosum, complementation group d	29.5	XPA GTF2H5 ERCC3 ERCC2 ERCC1 CCNH
9	xeroderma pigmentosum, complementation group f	29.2	XPA LIG1 ERCC6 ERCC3 ERCC2 ERCC1
10	xeroderma pigmentosum, complementation group c	29.2	XPA LIG1 ERCC6 ERCC3 ERCC2 ERCC1
11	trichothiodystrophy 3, photosensitive	29.2	GTF2H5 GTF2H2 ERCC6 ERCC3 ERCC2
12	cockayne syndrome b	29.2	XPA LIG1 ERCC6 ERCC3 ERCC2 ERCC1
13	xeroderma pigmentosum, variant type	29.2	XPA LIG1 GTF2H5 GTF2H2 ERCC6 ERCC3
14	xeroderma pigmentosum, complementation group g	28.2	XPA LIG1 GTF2H5 GTF2H2 ERCC6 ERCC3
15	leukemia, acute lymphoblastic	10.3
16	ovarian cancer	10.3
17	ovarian cancer 1	10.3
18	leukemia, chronic myeloid	10.1
19	lung cancer	10.1
20	rothmund-thomson syndrome, type 2	10.1	ERCC6 ERCC3 ERCC2
21	trichothiodystrophy 1, photosensitive	10.1	GTF2H5 ERCC3 ERCC2
22	cerebrooculofacioskeletal syndrome 2	10.1	ERCC6 ERCC2
23	skin benign neoplasm	10.0	XPA ERCC3 ERCC2
24	xeroderma pigmentosum group e	10.0	XPA GTF2H5 ERCC6
25	cerebrooculofacioskeletal syndrome 4	10.0	POLR1G ERCC1
26	acne	10.0
27	ovarian epithelial cancer	10.0
28	henoch-schoenlein purpura	10.0
29	parkinsonism with spasticity, x-linked	9.9	GTF2H2 ERCC3 ERCC2
30	fanconi anemia, complementation group d2	9.9
31	testicular cancer	9.9	ERCC6 ERCC2 ERCC1
32	pulmonary hypertension, primary, 1	9.9
33	ataxia-telangiectasia	9.9
34	mycobacterium tuberculosis 1	9.9
35	lung cancer susceptibility 1	9.9
36	pulmonary hypertension	9.9
37	leukemia	9.9
38	telangiectasis	9.9
39	ichthyosis	9.9
40	hepatitis b	9.9
41	hepatitis	9.9
42	adenocarcinoma	9.9
43	turner syndrome	9.9
44	bap1 tumor predisposition syndrome	9.9
45	human t-cell leukemia virus type 1	9.9
46	inherited cancer-predisposing syndrome	9.9
47	premature aging	9.9
48	overgrowth syndrome	9.9
49	twin-reversed arterial perfusion sequence	9.9
50	aplastic anemia	9.8	XPA ERCC6 ERCC2 ERCC1

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

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Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group B

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group B:

³⁰ (show all 24)

#	Description	HPO Source Accession
1	intellectual disability ³⁰	HP:0001249
2	hyperreflexia ³⁰	HP:0001347
3	ataxia ³⁰	HP:0001251
4	cataract ³⁰	HP:0000518
5	microcephaly ³⁰	HP:0000252
6	sensorineural hearing impairment ³⁰	HP:0000407
7	optic atrophy ³⁰	HP:0000648
8	short stature ³⁰	HP:0004322
9	decreased nerve conduction velocity ³⁰	HP:0000762
10	microphthalmia ³⁰	HP:0000568
11	ventriculomegaly ³⁰	HP:0002119
12	freckling ³⁰	HP:0001480
13	cutaneous photosensitivity ³⁰	HP:0000992
14	squamous cell carcinoma of the skin ³⁰	HP:0006739
15	basal cell carcinoma ³⁰	HP:0002671
16	cutaneous melanoma ³⁰	HP:0012056
17	cerebellar atrophy ³⁰	HP:0001272
18	hypogonadism ³⁰	HP:0000135
19	pigmentary retinopathy ³⁰	HP:0000580
20	abnormal cns myelination ³⁰	HP:0011400
21	dermal atrophy ³⁰	HP:0004334
22	progeroid facial appearance ³⁰	HP:0005328
23	basal ganglia calcification ³⁰	HP:0002135
24	increased cellular sensitivity to uv light ³⁰	HP:0003224

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neurologic Peripheral Nervous System:
hyperreflexia
decreased nerve conduction velocity

Head And Neck Head:
microcephaly

Growth Height:
short stature

Skin Nails Hair Skin:
freckling
atrophic skin
photosensitivity
abnormal pigmentation

Laboratory Abnormalities:
increased cellular sensitivity to uv light
decreased dna excision repair

Head And Neck Face:
wizened face

Neurologic Central Nervous System:
ataxia
cerebellar atrophy
abnormal myelination
mental retardation
basal ganglia calcifications
more

Head And Neck Eyes:
optic atrophy
microphthalmia
pigmentary retinopathy
cataracts

Neoplasia:
melanoma
basal cell carcinoma
squamous cell carcinoma
increased risk of malignancy

Endocrine Features:
hypogonadism

Head And Neck Ears:
sensorineural deafness

Growth Weight:
cachectic appearance

Clinical features from OMIM®:

610651 (Updated 08-Dec-2022)

UMLS symptoms related to Xeroderma Pigmentosum, Complementation Group B:

ataxia

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Complementation Group B 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	9.36	ERCC6
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.36	ERCC1 ERCC6 LIG1
3	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.36	CCNH ERCC1 ERCC2 ERCC3 ERCC6 GTF2H5

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	neoplasm	MP:0002006	9.43	ERCC1 ERCC2 ERCC3 ERCC6 LIG1 XPA
2	integument	MP:0010771	9.17	ERCC1 ERCC2 ERCC3 ERCC6 EVPL LIG1

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Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group B

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

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Genetic Tests for Xeroderma Pigmentosum, Complementation Group B

Genetic tests related to Xeroderma Pigmentosum, Complementation Group B:

#	Genetic test	Affiliating Genes
1	Xeroderma Pigmentosum Group B ²⁸	ERCC3

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Anatomical Context for Xeroderma Pigmentosum, Complementation Group B

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

MalaCards : Skin, B Cells, Breast, Lung

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Publications for Xeroderma Pigmentosum, Complementation Group B

Articles related to Xeroderma Pigmentosum, Complementation Group B:

(show top 50) (show all 83)

#	Title	Authors	PMID	Year
1	Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. ⁶² ⁵⁷ ⁵	Oh KS...Kraemer KH	16947863	2006
2	A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. ⁶² ⁵⁷ ⁵	Hwang JR...Egly JM	8663148	1996
3	Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. ⁶² ⁵⁷ ⁵	Vermeulen W...Weeda G	8304337	1994
4	A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. ⁶² ⁵⁷ ⁵	Weeda G...Hoeijmakers JH	2167179	1990
5	Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. ⁵⁷ ⁵	Scott RJ...Muller H	8408834	1993
6	Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. ⁵⁷ ⁵	Robbins JH...Coon HG	4811796	1974
7	Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. ⁵	Mandelker D...Offit K	28873162	2017
8	A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer. ⁵	Vijai J...Offit K	27655433	2016
9	Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. ⁵	Calmels N...Laugel V	27004399	2016
10	DNA repair. Seven genes for three diseases. ⁵⁷	Wood RD	2005975	1991
11	Do we know the cause of xeroderma pigmentosum? ⁵⁷	Cleaver JE	2189596	1990
12	Three complementation groups in Cockayne syndrome. ⁵⁷	Lehmann AR	6185841	1982
13	Vitamin D and COVID-19 - Let's Explore the Relationship! ⁶²	Singh RP...Chaudhary E	35261665	2021
14	Ocular Surface Squamous Neoplasia Following Keratoplasty in Xeroderma Pigmentosa: A Series of Seven Cases. ⁶²	Vempuluru VS...Kaliki S	33908328	2021
15	A Comparison of Efficacy and Safety of Fractional Carbon Dioxide Laser and Fractional Er:YAG Laser for the Treatment of Xanthelasma Palpebrarum: A Two-Center Randomized Split-Face Controlled Trial. ⁶²	Tuan H...Zhao Y	33449843	2021
16	Epstein-Barr virus co-opts TFIIH component XPB to specifically activate essential viral lytic promoters. ⁶²	Verma D...Swaminathan S	32434920	2020
17	Spironolactone and XPB: An Old Drug with a New Molecular Target. ⁶²	Gabbard RD...Kemp MG	32414008	2020
18	Functional interplay between TFIIH and KAT2A regulates higher-order chromatin structure and class II gene expression. ⁶²	Sandoz J...Coin F	30894545	2019
19	Understanding and predicting a complex behavior using n-of-1 methods: Photoprotection in xeroderma pigmentosum. ⁶²	Sainsbury K...Araujo-Soares V	30221970	2018
20	Analysis of the conserved NER helicases (XPB and XPD) and UV-induced DNA damage in Hydra. ⁶²	Galande AA...Ghaskadbi S	29959982	2018
21	Nucleotide excision repair is a potential therapeutic target in multiple myeloma. ⁶²	Szalat R...Munshi NC	28588253	2018
22	Spironolactone-induced degradation of the TFIIH core complex XPB subunit suppresses NF-κB and AP-1 signalling. ⁶²	Elinoff JM...Danner RL	29036418	2018
23	Xeroderma pigmentosum-Cockayne syndrome complex. ⁶²	Natale V...Raquer H	28376890	2017
24	Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure. ⁶²	Bowden NA...Scott RJ	26184184	2015
25	Genetic Polymorphisms in XRCC1, CD3EAP, PPP1R13L, XPB, XPC, and XPF and the Risk of Chronic Benzene Poisoning in a Chinese Occupational Population. ⁶²	Xue P...Lu X	26681190	2015
26	Cdt2-mediated XPG degradation promotes gap-filling DNA synthesis in nucleotide excision repair. ⁶²	Han C...Wani AA	25483071	2015
27	Loss of the xeroderma pigmentosum group B protein binding site impairs p210 BCR/ABL1 leukemogenic activity. ⁶²	Pannucci NL...Whitehead IP	23955590	2013
28	Lack of CAK complex accumulation at DNA damage sites in XP-B and XP-B/CS fibroblasts reveals differential regulation of CAK anchoring to core TFIIH by XPB and XPD helicases during nucleotide excision repair. ⁶²	Zhu Q...Wani A	23083890	2012
29	Dermatological manifestations of inherited cancer syndromes in children. ⁶²	Karalis A...Millington GW	20973772	2011
30	UV-induced histone H2AX phosphorylation and DNA damage related proteins accumulate and persist in nucleotide excision repair-deficient XP-B cells. ⁶²	Oh KS...Kraemer KH	20947453	2011
31	Hydrogen peroxide induced genomic instability in nucleotide excision repair-deficient lymphoblastoid cells. ⁶²	Gopalakrishnan K...Hande MP	21176161	2010
32	Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage. ⁶²	Oh KS...Kraemer KH	17509950	2007
33	Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair. ⁶²	Coin F...Egly JM	17466626	2007
34	Conserved XPB core structure and motifs for DNA unwinding: implications for pathway selection of transcription or excision repair. ⁶²	Fan L...Tainer JA	16600867	2006
35	TFIIH operates through an expanded proximal promoter to fine-tune c-myc expression. ⁶²	Weber A...Levens D	15601838	2005
36	Functional XPB/RAD25 redundancy in Arabidopsis genome: characterization of AtXPB2 and expression analysis. ⁶²	Morgante PG...Van Sluys MA	15656976	2005
37	Phosphorylation of XPB helicase regulates TFIIH nucleotide excision repair activity. ⁶²	Coin F...Egly JM	15549133	2004
38	p210 BCR/ABL kinase regulates nucleotide excision repair (NER) and resistance to UV radiation. ⁶²	Canitrot Y...Skorski T	12829601	2003
39	Impact of p210(Bcr-Abl) on ultraviolet C wavelength-induced DNA damage and repair. ⁶²	Laurent E...Kurzrock R	14506164	2003
40	[Effect of benzo[a]pyrene on DNA damage and expression of genes involved in nucleotide excision repair in lung cancer cells]. ⁶²	Wu X...Ren S	14694596	2002
41	P53 plays a protective role against UV- and cisplatin-induced apoptosis in transcription-coupled repair proficient fibroblasts. ⁶²	McKay BC...Ljungman M	11709715	2001
42	TFIIH action in transcription initiation and promoter escape requires distinct regions of downstream promoter DNA. ⁶²	Spangler L...Dvir A	11331764	2001
43	Defective interplay of activators and repressors with TFIH in xeroderma pigmentosum. ⁶²	Liu J...Levens D	11239393	2001
44	Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription. ⁶²	Berneburg M...Lehmann AR	11037299	2001
45	Increased mRNA levels of xeroderma pigmentosum complementation group B (XPB) and Cockayne's syndrome complementation group B (CSB) without increased mRNA levels of multidrug-resistance gene (MDR1) or metallothionein-II (MT-II) in platinum-resistant human ovarian cancer tissues. ⁶²	Dabholkar M...Reed E	11077043	2000
46	Mechanism of promoter melting by the xeroderma pigmentosum complementation group B helicase of transcription factor IIH revealed by protein-DNA photo-cross-linking. ⁶²	Douziech M...Coulombe B	11027286	2000
47	Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome. ⁶²	Le Page F...Cooper PK	10786832	2000
48	BCR binds to the xeroderma pigmentosum group B protein. ⁶²	Maru Y...Shibuya M	10403766	1999
49	Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH. ⁶²	Coin F...Egly JM	10064601	1999
50	UV-enhanced reactivation of a UV-damaged reporter gene suggests transcription-coupled repair is UV-inducible in human cells. ⁶²	Francis MA...Rainbow AJ	9934845	1999

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Genes for Xeroderma Pigmentosum, Complementation Group B

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

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ERCC3	ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit	Protein Coding	1362.16	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name (show sections)	2167179 4811796 8304337 (more) 8408834 8663148 16947863 27004399 27655433 28873162
2	PUF60	Poly(U) Binding Splicing Factor 60	Protein Coding	23.13	DISEASES inferred ¹⁴ GeneCards inferred via : Proteins Functions (show sections)
3	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	8.91	DISEASES inferred ¹⁴ ¹⁴
4	ERCC2	ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit	Protein Coding	6.51	DISEASES inferred ¹⁴
5	ERCC1	ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit	Protein Coding	6.2	DISEASES inferred ¹⁴
6	GTF2H5	General Transcription Factor IIH Subunit 5	Protein Coding	6.15	DISEASES inferred ¹⁴
7	XPA	XPA, DNA Damage Recognition And Repair Factor	Protein Coding	5.72	DISEASES inferred ¹⁴
8	LIG1	DNA Ligase 1	Protein Coding	5.61	DISEASES inferred ¹⁴
9	IMMT	Inner Membrane Mitochondrial Protein	Protein Coding	5.15	DISEASES inferred ¹⁴
10	CCNH	Cyclin H	Protein Coding	4.99	DISEASES inferred ¹⁴
11	MCF2	MCF.2 Cell Line Derived Transforming Sequence	Protein Coding	4.98	DISEASES inferred ¹⁴
12	POLR1G	RNA Polymerase I Subunit G	Protein Coding	4.96	DISEASES inferred ¹⁴
13	GTF2H2	General Transcription Factor IIH Subunit 2	Protein Coding	4.82	DISEASES inferred ¹⁴
14	EVPL	Envoplakin	Protein Coding	4.79	DISEASES inferred ¹⁴
15	MRNIP	MRN Complex Interacting Protein	Protein Coding	4.74	DISEASES inferred ¹⁴

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Variations for Xeroderma Pigmentosum, Complementation Group B

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

⁵ (show top 50) (show all 84)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ERCC3	NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter)	SNV	Pathogenic	627443	rs138385061	GRCh37: 2:128047339-128047339 GRCh38: 2:127289763-127289763
2	ERCC3	NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter)	SNV	Pathogenic	801749	rs1404293670	GRCh37: 2:128050197-128050197 GRCh38: 2:127292621-127292621
3	ERCC3	NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter)	SNV	Pathogenic	1319556		GRCh37: 2:128044459-128044459 GRCh38: 2:127286883-127286883
4	ERCC3	NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter)	SNV	Pathogenic	16585	rs121913047	GRCh37: 2:128044348-128044348 GRCh38: 2:127286772-127286772
5	ERCC3	NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer)	DEL	Pathogenic	16586	rs866379139	GRCh37: 2:128046925-128046926 GRCh38: 2:127289349-127289350
6	ERCC3	NM_000122.2(ERCC3):c.471+1G>A	SNV	Pathogenic	16589	rs1558964705	GRCh37: 2:128050185-128050185 GRCh38: 2:127292609-127292609
7	ERCC3	NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)	DUP	Pathogenic	134130	rs587778281	GRCh37: 2:128038128-128038129 GRCh38: 2:127280552-127280553
8	ERCC3	NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	SNV	Pathogenic	265515	rs34295337	GRCh37: 2:128050332-128050332 GRCh38: 2:127292756-127292756
9	ERCC3	NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter)	SNV	Pathogenic	16588	rs121913048	GRCh37: 2:128036846-128036846 GRCh38: 2:127279270-127279270
10	ERCC3	NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser)	SNV	Pathogenic	16583	rs121913045	GRCh37: 2:128050361-128050361 GRCh38: 2:127292785-127292785
11	ERCC3	NM_000122.2(ERCC3):c.2218-6C>A	SNV	Pathogenic	16582		GRCh37: 2:128015309-128015309 GRCh38: 2:127257733-127257733
12	ERCC3	NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter)	SNV	Likely Pathogenic	995893		GRCh37: 2:128038196-128038196 GRCh38: 2:127280620-127280620
13	ERCC3	NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter)	SNV	Likely Pathogenic	801744	rs1404157087	GRCh37: 2:128028924-128028924 GRCh38: 2:127271348-127271348
14	ERCC3	NM_000122.2(ERCC3):c.1155C>T (p.Asp385=)	SNV	Uncertain Significance	331082	rs371396764	GRCh37: 2:128044466-128044466 GRCh38: 2:127286890-127286890
15	ERCC3	NM_000122.2(ERCC3):c.2106G>A (p.Ala702=)	SNV	Uncertain Significance	331074	rs114508982	GRCh37: 2:128016983-128016983 GRCh38: 2:127259407-127259407
16	ERCC3	NM_000122.2(ERCC3):c.1929G>T (p.Val643=)	SNV	Uncertain Significance	331077	rs375556869	GRCh37: 2:128028928-128028928 GRCh38: 2:127271352-127271352
17	ERCC3	NM_000122.2(ERCC3):c.1130A>T (p.Gln377Leu)	SNV	Uncertain Significance	1319557		GRCh37: 2:128044491-128044491 GRCh38: 2:127286915-127286915
18	ERCC3	NM_000122.2(ERCC3):c.1015G>T (p.Val339Phe)	SNV	Uncertain Significance	1319558		GRCh37: 2:128046248-128046248 GRCh38: 2:127288672-127288672
19	ERCC3	NM_000122.2(ERCC3):c.1078C>T (p.Arg360Cys)	SNV	Uncertain Significance	331084	rs754010782	GRCh37: 2:128044543-128044543 GRCh38: 2:127286967-127286967
20	ERCC3	NM_000122.2(ERCC3):c.1411G>A (p.Val471Ile)	SNV	Uncertain Significance	894782	rs371627165	GRCh37: 2:128038139-128038139 GRCh38: 2:127280563-127280563
21	ERCC3	NM_000122.2(ERCC3):c.1371C>T (p.Ile457=)	SNV	Uncertain Significance	331080	rs769083884	GRCh37: 2:128038179-128038179 GRCh38: 2:127280603-127280603
22	ERCC3	NM_000122.2(ERCC3):c.1026C>T (p.Cys342=)	SNV	Uncertain Significance	331086	rs752026166	GRCh37: 2:128046237-128046237 GRCh38: 2:127288661-127288661
23	ERCC3	NM_000122.2(ERCC3):c.*83C>T	SNV	Uncertain Significance	893583	rs1684047924	GRCh37: 2:128015089-128015089 GRCh38: 2:127257513-127257513
24	ERCC3	NM_000122.2(ERCC3):c.529G>A (p.Val177Ile)	SNV	Uncertain Significance	893612	rs139690693	GRCh37: 2:128047393-128047393 GRCh38: 2:127289817-127289817
25	ERCC3	NM_000122.2(ERCC3):c.2080G>T (p.Ala694Ser)	SNV	Uncertain Significance	893871	rs151216904	GRCh37: 2:128017009-128017009 GRCh38: 2:127259433-127259433
26	ERCC3	NM_000122.2(ERCC3):c.1986G>A (p.Leu662=)	SNV	Uncertain Significance	893872	rs1419254389	GRCh37: 2:128018882-128018882 GRCh38: 2:127261306-127261306
27	ERCC3	NM_000122.2(ERCC3):c.131A>G (p.Lys44Arg)	SNV	Uncertain Significance	893902	rs771345526	GRCh37: 2:128051192-128051192 GRCh38: 2:127293616-127293616
28	ERCC3	NM_000122.2(ERCC3):c.-31G>A	SNV	Uncertain Significance	893903	rs766435259	GRCh37: 2:128051688-128051688 GRCh38: 2:127294112-127294112
29	ERCC3	NM_000122.2(ERCC3):c.822+5G>A	SNV	Uncertain Significance	1319239		GRCh37: 2:128046908-128046908 GRCh38: 2:127289332-127289332
30	ERCC3	NM_000122.2(ERCC3):c.500A>G (p.Lys167Arg)	SNV	Uncertain Significance	1319240		GRCh37: 2:128047821-128047821 GRCh38: 2:127290245-127290245
31	ERCC3	NM_000122.2(ERCC3):c.2259C>T (p.Ala753=)	SNV	Uncertain Significance	1319550		GRCh37: 2:128015262-128015262 GRCh38: 2:127257686-127257686
32	ERCC3	NM_000122.2(ERCC3):c.1900C>T (p.Arg634Cys)	SNV	Uncertain Significance	1319551		GRCh37: 2:128028957-128028957 GRCh38: 2:127271381-127271381
33	ERCC3	NM_000122.2(ERCC3):c.1895C>T (p.Ser632Phe)	SNV	Uncertain Significance	1319552		GRCh37: 2:128028962-128028962 GRCh38: 2:127271386-127271386
34	ERCC3	NM_000122.2(ERCC3):c.1559G>A (p.Arg520Gln)	SNV	Uncertain Significance	1319553		GRCh37: 2:128036920-128036920 GRCh38: 2:127279344-127279344
35	ERCC3	NM_000122.2(ERCC3):c.796_797del (p.Gln266fs)	MICROSAT	Uncertain Significance	631826	rs1558962530	GRCh37: 2:128046938-128046939 GRCh38: 2:127289362-127289363
36	ERCC3	NM_000122.2(ERCC3):c.28+8G>A	SNV	Uncertain Significance	331096	rs886054844	GRCh37: 2:128051622-128051622 GRCh38: 2:127294046-127294046
37	ERCC3	NM_000122.2(ERCC3):c.254T>G (p.Phe85Cys)	SNV	Uncertain Significance	331094	rs767507847	GRCh37: 2:128050403-128050403 GRCh38: 2:127292827-127292827
38	ERCC3	NM_000122.2(ERCC3):c.657+15G>A	SNV	Uncertain Significance	331088	rs781533251	GRCh37: 2:128047250-128047250 GRCh38: 2:127289674-127289674
39	ERCC3	NM_000122.2(ERCC3):c.359C>T (p.Ala120Val)	SNV	Uncertain Significance	331092	rs370115857	GRCh37: 2:128050298-128050298 GRCh38: 2:127292722-127292722
40	ERCC3	NM_000122.2(ERCC3):c.1156G>A (p.Asp386Asn)	SNV	Uncertain Significance	331081	rs374264195	GRCh37: 2:128044465-128044465 GRCh38: 2:127286889-127286889
41	ERCC3	NM_000122.2(ERCC3):c.2218-6C>T	SNV	Uncertain Significance	758079	rs200733704	GRCh37: 2:128015309-128015309 GRCh38: 2:127257733-127257733
42	ERCC3	NM_000122.2(ERCC3):c.2218-5G>A	SNV	Uncertain Significance	695354	rs201054106	GRCh37: 2:128015308-128015308 GRCh38: 2:127257732-127257732
43	ERCC3	NM_000122.2(ERCC3):c.2224C>T (p.Arg742Trp)	SNV	Uncertain Significance	893584	rs368664230	GRCh37: 2:128015297-128015297 GRCh38: 2:127257721-127257721
44	ERCC3	NM_000122.2(ERCC3):c.2226G>A (p.Arg742=)	SNV	Uncertain Significance	710683	rs376593226	GRCh37: 2:128015295-128015295 GRCh38: 2:127257719-127257719
45	ERCC3	NM_000122.2(ERCC3):c.1549G>A (p.Glu517Lys)	SNV	Uncertain Significance	1319554		GRCh37: 2:128036930-128036930 GRCh38: 2:127279354-127279354
46	ERCC3	NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp)	SNV	Uncertain Significance	893901	rs149309991	GRCh37: 2:128051179-128051179 GRCh38: 2:127293603-127293603
47	ERCC3	NM_000122.2(ERCC3):c.1911C>G (p.Ala637=)	SNV	Uncertain Significance	893873	rs1258857605	GRCh37: 2:128028946-128028946 GRCh38: 2:127271370-127271370
48	ERCC3	NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg)	SNV	Uncertain Significance	893870	rs201806429	GRCh37: 2:128017002-128017002 GRCh38: 2:127259426-127259426
49	ERCC3	NM_000122.2(ERCC3):c.314A>G (p.Glu105Gly)	SNV	Uncertain Significance	893613	rs116713511	GRCh37: 2:128050343-128050343 GRCh38: 2:127292767-127292767
50	ERCC3	NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys)	SNV	Uncertain Significance Uncertain Significance	134128	rs145201970	GRCh37: 2:128046416-128046416 GRCh38: 2:127288840-127288840

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

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	ERCC3	p.Phe99Ser	VAR_003632	rs121913045

Sources

Expression for Xeroderma Pigmentosum, Complementation Group B

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

Sources

Pathways for Xeroderma Pigmentosum, Complementation Group B

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

(show all 14)

#	Super pathways	Score	Top Affiliating Genes
1	RNA Polymerase I Promoter Opening ⁶⁶ Show member pathways Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 ⁶⁶ Activation of anterior HOX genes in hindbrain development during early embryogenesis ⁶⁶ Activation of HOX genes during differentiation ⁶⁶ Amyloid fiber formation ⁶⁶ Assembly of the ORC complex at the origin of replication ⁶⁶ Binding of TCF/LEF:CTNNB1 to target gene promoters ⁶⁶ B-WICH complex positively regulates rRNA expression ⁶⁶ Condensation of Prophase Chromosomes ⁶⁶ Defective pyroptosis ⁶⁶ Diseases of programmed cell death ⁶⁶ DNA methylation ⁶⁶ Epigenetic regulation of gene expression ⁶⁶ ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression ⁶⁶ Formation of the beta-catenin:TCF transactivating complex ⁶⁶ HDACs deacetylate histones ⁶⁶ HDMs demethylate histones ⁶⁶ Negative epigenetic regulation of rRNA expression ⁶⁶ NoRC negatively regulates rRNA expression ⁶⁶ Positive epigenetic regulation of rRNA expression ⁶⁶ PRC2 methylates histones and DNA ⁶⁶ RHO GTPases activate PKNs ⁶⁶ RMTs methylate histone arginines ⁶⁶ RNA Polymerase I Promoter Clearance ⁶⁶ RNA Polymerase I Promoter Escape ⁶⁶ RNA Polymerase I Transcription ⁶⁶ RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function ⁶⁶ SIRT1 negatively regulates rRNA expression ⁶⁶ TET1,2,3 and TDG demethylate DNA ⁶⁶ Transcriptional regulation of granulopoiesis ⁶⁶	13.49	POLR1G GTF2H5 GTF2H2 ERCC6 ERCC3 ERCC2
2	Processing of Capped Intron-Containing Pre-mRNA ⁶⁶ Show member pathways Metabolism of RNA ⁶⁶ mRNA processing ⁷⁴ mRNA Splicing ⁶⁶ mRNA Splicing - Major Pathway ⁶⁶	13.18	PUF60 GTF2H5 GTF2H2 ERCC3 ERCC2 CCNH
3	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	12.97	XPA LIG1 GTF2H5 GTF2H2 ERCC6 ERCC3
4	Formation of HIV elongation complex in the absence of HIV Tat ⁶⁶ Show member pathways Abortive elongation of HIV-1 transcript in the absence of Tat ⁶⁶ FGFR2 alternative splicing ⁶⁶ Formation of HIV-1 elongation complex containing HIV-1 Tat ⁶⁶ Formation of RNA Pol II elongation complex ⁶⁶ Formation of the Early Elongation Complex ⁶⁶ Formation of the HIV-1 Early Elongation Complex ⁶⁶ HIV elongation arrest and recovery ⁶⁶ HIV Transcription Elongation ⁶⁶ Interactions of Tat with host cellular proteins ⁶⁶ MicroRNA (miRNA) biogenesis ⁶⁶ miRNA biogenesis ⁷⁴ mRNA Capping ⁶⁶ Pausing and recovery of HIV elongation ⁶⁶ Pausing and recovery of Tat-mediated HIV elongation ⁶⁶ PIWI-interacting RNA (piRNA) biogenesis ⁶⁶ RNA Pol II CTD phosphorylation and interaction with CE ⁶⁶ RNA Pol II CTD phosphorylation and interaction with CE during HIV infection ⁶⁶ RNA Polymerase II Pre-transcription Events ⁶⁶ RNA polymerase II transcribes snRNA genes ⁶⁶ RNA Polymerase II Transcription Elongation ⁶⁶ Tat-mediated elongation of the HIV-1 transcript ⁶⁶ Tat-mediated HIV elongation arrest and recovery ⁶⁶ TP53 Regulates Transcription of DNA Repair Genes ⁶⁶ Transcription of the HIV genome ⁶⁶	12.91	GTF2H5 GTF2H2 ERCC3 ERCC2 CCNH
5	HIV Life Cycle ⁶⁶ Show member pathways 2-LTR circle formation ⁶⁶ APOBEC3G mediated resistance to HIV-1 infection ⁶⁶ Assembly Of The HIV Virion ⁶⁶ Binding and entry of HIV virion ⁶⁶ Early Phase of HIV Life Cycle ⁶⁶ HIV Infection ⁶⁶ Host Interactions of HIV factors ⁶⁶ Integration of provirus ⁶⁶ Late Phase of HIV Life Cycle ⁶⁶	12.78	LIG1 GTF2H5 GTF2H2 ERCC3 ERCC2 CCNH
6	RNA Polymerase II Transcription Initiation And Promoter Clearance ⁶⁶ Show member pathways Assembly of RNA Polymerase-II Initiation Complex ⁶⁴ Crosstalk Between CARM1 and ESRs ⁶⁴ Eukaryotic transcription initiation ⁷⁴ HIV Transcription Initiation ⁶⁶ Protein Acetylation and Deacetylation ⁶⁴ RNA Polymerase II HIV Promoter Escape ⁶⁶ RNA Polymerase II Promoter Escape ⁶⁶ RNA Polymerase II Transcription Initiation ⁶⁶ RNA Polymerase II Transcription Pre-Initiation And Promoter Opening ⁶⁶ Transcription Ligand-Dependent Transcription of Retinoid-Target genes ²² Transcription of mRNA ⁶⁴	12.73	GTF2H5 GTF2H2 ERCC3 ERCC2 CCNH
7	Regulation of TP53 Activity ⁶⁶ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁶ Regulation of TP53 Activity through Methylation ⁶⁶ Regulation of TP53 Activity through Phosphorylation ⁶⁶ Transcriptional Regulation by TP53 ⁶⁶	12.69	CCNH ERCC2 ERCC3 GTF2H2 GTF2H5
8	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	12.54	CCNH ERCC1 ERCC2 ERCC3 ERCC6 GTF2H2
9	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	12.44	ERCC1 ERCC2 ERCC3 ERCC6 GTF2H2 LIG1
10	DNA Damage ³	12.3	XPA ERCC3 ERCC2 ERCC1 CCNH
11	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	12.17	XPA LIG1 GTF2H5 GTF2H2 ERCC6 ERCC3
12	Transcription_P53 signaling pathway ²²	11.53	XPA GTF2H5 GTF2H2 ERCC3 ERCC2
13	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	11.12	XPA ERCC6 ERCC3 ERCC2 ERCC1
14	RNA Polymerase I Transcription Termination ⁶⁶ Show member pathways Assembly of RNA Polymerase-I Initiation Complex ⁶⁴ RNA Polymerase I Transcription Initiation ⁶⁶	11.12	POLR1G GTF2H5 GTF2H2 ERCC6 ERCC3 ERCC2

Sources

GO Terms for Xeroderma Pigmentosum, Complementation Group B

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

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleoplasm	GO:0005654	10.45	XPA PUF60 POLR1G MRNIP LIG1 GTF2H5
2	transcription factor TFIID complex	GO:0005669	9.76	GTF2H5 GTF2H2 ERCC3 ERCC2
3	transcription factor TFIIH holo complex	GO:0005675	9.65	GTF2H5 GTF2H2 ERCC3 ERCC2 CCNH
4	CAK-ERCC2 complex	GO:0070516	9.62	ERCC2 CCNH
5	nucleotide-excision repair factor 1 complex	GO:0000110	9.56	ERCC1 XPA
6	transcription factor TFIIH core complex	GO:0000439	9.32	GTF2H5 GTF2H2 ERCC3 ERCC2 CCNH

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

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription by RNA polymerase II	GO:0006366	10.18	CCNH ERCC2 ERCC3 ERCC6 GTF2H2 GTF2H5
2	response to oxidative stress	GO:0006979	10.13	ERCC6 ERCC3 ERCC2 ERCC1
3	transcription initiation at RNA polymerase II promoter	GO:0006367	10.08	GTF2H5 GTF2H2 ERCC3 CCNH
4	multicellular organism growth	GO:0035264	10.05	ERCC6 ERCC2 ERCC1
5	response to UV	GO:0009411	10	GTF2H2 ERCC6 ERCC3 ERCC2
6	base-excision repair	GO:0006284	9.99	ERCC6 LIG1 XPA
7	transcription-coupled nucleotide-excision repair	GO:0006283	9.91	ERCC6 ERCC3 ERCC2
8	response to X-ray	GO:0010165	9.88	ERCC6 ERCC1
9	UV-damage excision repair	GO:0070914	9.87	XPA ERCC1
10	regulation of mitotic cell cycle phase transition	GO:1901990	9.86	ERCC3 ERCC2
11	UV protection	GO:0009650	9.86	XPA ERCC3 ERCC2 ERCC1
12	phosphorylation of RNA polymerase II C-terminal domain	GO:0070816	9.85	GTF2H5 CCNH
13	transcription elongation by RNA polymerase I	GO:0006362	9.85	GTF2H5 ERCC6 ERCC2
14	cellular response to DNA damage stimulus	GO:0006974	9.85	ERCC1 ERCC2 ERCC3 ERCC6 GTF2H2 GTF2H5
15	hair cell differentiation	GO:0035315	9.84	ERCC3 ERCC2
16	DNA repair	GO:0006281	9.8	XPA MRNIP LIG1 GTF2H5 GTF2H2 ERCC6
17	nucleotide-excision repair, DNA duplex unwinding	GO:0000717	9.67	ERCC3 ERCC2
18	obsolete nucleotide-excision repair, DNA incision	GO:0033683	9.62	XPA ERCC3 ERCC2
19	nucleotide-excision repair	GO:0006289	9.36	XPA GTF2H5 GTF2H2 ERCC3 ERCC2 ERCC1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein C-terminus binding	GO:0008022	9.86	ERCC6 ERCC3 ERCC2 ERCC1
2	protein N-terminus binding	GO:0047485	9.56	GTF2H2 ERCC6 ERCC3 ERCC2
3	helicase activity	GO:0004386	9.5	ERCC6 ERCC3 ERCC2
4	DNA helicase activity	GO:0003678	9.46	ERCC6 ERCC3 ERCC2
5	damaged DNA binding	GO:0003684	9.23	XPA ERCC3 ERCC2 ERCC1

Sources

Sources for Xeroderma Pigmentosum, Complementation Group B

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

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¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

XPB MCID: XRD032 MIFTS: 49	Xeroderma Pigmentosum, Complementation Group B (XPB) 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 B (XPB)

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group B

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group B:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Xeroderma Pigmentosum, Complementation Group B

Related Diseases for Xeroderma Pigmentosum, Complementation Group B

Diseases in the Xeroderma Pigmentosum, Complementation Group a family:

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

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

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group B

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group B:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Xeroderma Pigmentosum, Complementation Group B:

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

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

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group B

Genetic Tests for Xeroderma Pigmentosum, Complementation Group B

Genetic tests related to Xeroderma Pigmentosum, Complementation Group B:

Anatomical Context for Xeroderma Pigmentosum, Complementation Group B

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Publications for Xeroderma Pigmentosum, Complementation Group B

Articles related to Xeroderma Pigmentosum, Complementation Group B:

Genes for Xeroderma Pigmentosum, Complementation Group B

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

Variations for Xeroderma Pigmentosum, Complementation Group B

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

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

Expression for Xeroderma Pigmentosum, Complementation Group B

Pathways for Xeroderma Pigmentosum, Complementation Group B

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

GO Terms for Xeroderma Pigmentosum, Complementation Group B

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

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

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

Sources for Xeroderma Pigmentosum, Complementation Group B