Fanconi Anemia, Complementation Group P disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

FANCP MCID: FNC046 MIFTS: 47	Fanconi Anemia, Complementation Group P (FANCP) Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Fanconi Anemia, Complementation Group P

MalaCards integrated aliases for Fanconi Anemia, Complementation Group P:

Name: Fanconi Anemia, Complementation Group P ⁵⁶ ²⁹ ¹³ ⁶ ³⁹ ⁷¹

Fanconi Anemia Complementation Group P ¹² ⁷³ ¹⁵

Fancp ⁵⁶ ¹² ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
six patients have been reported (last curated may 2011)

HPO:

³¹

fanconi anemia, complementation group p:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Blood diseases Nephrological diseases Bone diseases Skin diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111092

OMIM ⁵⁶ 613951

OMIM Phenotypic Series ⁵⁶ PS227650

MeSH ⁴³ D005199

MedGen ⁴¹ C3469542 CN077628

UMLS ⁷¹ C3469542

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Summaries for Fanconi Anemia, Complementation Group P

UniProtKB/Swiss-Prot : ⁷³ Fanconi anemia complementation group P: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some individuals affected by Fanconi anemia of complementation group P have skeletal anomalies.

MalaCards based summary : Fanconi Anemia, Complementation Group P, also known as fanconi anemia complementation group p, is related to deficiency anemia and xeroderma pigmentosum, variant type. An important gene associated with Fanconi Anemia, Complementation Group P is SLX4 (SLX4 Structure-Specific Endonuclease Subunit), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are hearing impairment and cryptorchidism

Disease Ontology : ¹² A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has material basis in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3.

OMIM : ⁵⁶ Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011). For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see 227650. (613951)

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Related Diseases for Fanconi Anemia, Complementation Group P

Diseases in the Fanconi Anemia, Complementation Group C family:

Fanconi Anemia, Complementation Group D2	Fanconi Anemia, Complementation Group a
Fanconi Anemia, Complementation Group B	Fanconi Anemia, Complementation Group E
Fanconi Anemia, Complementation Group F	Fanconi Anemia, Complementation Group D1
Fanconi Anemia, Complementation Group I	Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N	Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P	Fanconi Anemia, Complementation Group G
Fanconi Anemia, Complementation Group L	Fanconi Anemia, Complementation Group Q
Fanconi Anemia, Complementation Group T	Fanconi Anemia, Complementation Group V
Fanconi Anemia, Complementation Group R	Fanconi Anemia, Complementation Group U
Fanconi Anemia, Complementation Group W	Fanconi Anemia, Complementation Group S

Diseases related to Fanconi Anemia, Complementation Group P via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)

#	Related Disease	Score	Top Affiliating Genes
1	deficiency anemia	27.3	H2AC18 FANCG FANCF FANCE FANCD2 FANCC
2	xeroderma pigmentosum, variant type	26.8	SLX4 SLX1B SLX1A H2AC18 FANCM FANCI
3	fanconi anemia, complementation group q	25.2	SLX4 RAD51C PALB2 FANCM FANCL FANCI
4	fanconi anemia, complementation group a	23.9	SLX4 SLX1B SLX1A RAD51C PALB2 H2AC18
5	maternal uniparental disomy	10.3	SLX4 FANCA
6	maternal uniparental disomy of chromosome 16	10.3	SLX4 FANCA
7	thrombophlebitis migrans	10.2	SLX4 FANCI FANCA
8	hutchinson-gilford progeria syndrome	10.2
9	cockayne syndrome	10.2
10	xfe progeroid syndrome	10.1	SLX4 ERCC6
11	fanconi anemia, complementation group l	10.1	FANCL FANCI FANCD2
12	vacterl association	10.0	FANCL FANCI FANCB
13	interstitial nephritis, karyomegalic	9.9	SLX4 SLX1B SLX1A FANCI FANCD2
14	fanconi anemia, complementation group i	9.9	H2AC18 FANCM FANCI FANCD2
15	alpha thalassemia-x-linked intellectual disability syndrome	9.8	H2AC18 ERCC6
16	dyskeratosis congenita	9.7	H2AC18 FANCB FANCA ERCC6
17	esophageal atresia/tracheoesophageal fistula	9.6	FANCC FANCB FANCA
18	li-fraumeni syndrome	9.6	RAD51C PALB2 H2AC18
19	sporadic breast cancer	9.6	RAD51C PALB2 FANCF FANCD2
20	tracheoesophageal fistula with or without esophageal atresia	9.6	PALB2 FANCC
21	lynch syndrome	9.5	RAD51C PALB2 H2AC18 ERCC6
22	fanconi anemia, complementation group d2	9.4	H2AC18 FANCI FANCG FANCD2 FANCA
23	xeroderma pigmentosum, complementation group f	9.4	SLX4 SLX1B SLX1A FANCM FANCD2 FAAP24
24	seckel syndrome	9.0	H2AC18 FANCM FANCI FANCE FANCD2 FANCA
25	fanconi anemia, complementation group c	9.0	FANCL FANCI FANCF FANCD2 FANCC FANCA
26	hereditary breast ovarian cancer syndrome	8.9	RAD51C PALB2 FANCG FANCC
27	fanconi anemia, complementation group e	8.7	FANCG FANCF FANCE FANCD2 FANCC FANCA
28	fanconi anemia, complementation group u	8.7	SLX4 RAD51C FANCM FANCL FANCI FANCF
29	esophageal atresia	8.6	SLX4 FANCM FANCL FANCI FANCE FANCD2
30	fanconi anemia, complementation group f	8.5	H2AC18 FANCG FANCF FANCE FANCD2 FANCC
31	fanconi anemia, complementation group v	8.5	SLX4 FANCM FANCL FANCI FANCE FANCD2
32	aplastic anemia	8.4	H2AC18 FANCM FANCI FANCG FANCD2 FANCC
33	fanconi anemia, complementation group b	8.3	FANCL FANCG FANCF FANCE FANCD2 FANCC
34	squamous cell carcinoma, head and neck	8.0	H2AC18 FANCL FANCG FANCF FANCE FANCD2
35	fanconi anemia, complementation group r	7.8	SLX4 RAD51C PALB2 FANCM FANCL FANCI
36	fanconi anemia, complementation group t	7.4	SLX4 H2AC18 FANCM FANCL FANCI FANCG
37	fanconi anemia, complementation group o	6.2	SLX4 RAD51C PALB2 FANCM FANCL FANCI
38	fanconi anemia, complementation group n	6.1	SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
39	fanconi anemia, complementation group j	6.0	SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
40	fanconi anemia, complementation group d1	6.0	SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
41	congenital hypoplastic anemia	5.6	SLX4 SLX1B SLX1A RAD51C PALB2 H2AC18

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group P:

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Symptoms & Phenotypes for Fanconi Anemia, Complementation Group P

Human phenotypes related to Fanconi Anemia, Complementation Group P:

³¹ (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	hearing impairment ³¹	occasional (7.5%)	HP:0000365
2	cryptorchidism ³¹	occasional (7.5%)	HP:0000028
3	horseshoe kidney ³¹	occasional (7.5%)	HP:0000085
4	micrognathia ³¹	occasional (7.5%)	HP:0000347
5	microcephaly ³¹	occasional (7.5%)	HP:0000252
6	vitiligo ³¹	occasional (7.5%)	HP:0001045
7	bulbous nose ³¹	occasional (7.5%)	HP:0000414
8	pelvic kidney ³¹	occasional (7.5%)	HP:0000125
9	blepharophimosis ³¹	occasional (7.5%)	HP:0000581
10	short thumb ³¹	occasional (7.5%)	HP:0009778
11	hypoplasia of the radius ³¹	occasional (7.5%)	HP:0002984
12	squamous cell carcinoma ³¹	occasional (7.5%)	HP:0002860
13	short palpebral fissure ³¹	occasional (7.5%)	HP:0012745
14	absent thumb ³¹	occasional (7.5%)	HP:0009777
15	short stature ³¹		HP:0004322
16	cafe-au-lait spot ³¹		HP:0000957
17	anemia ³¹		HP:0001903
18	pancytopenia ³¹		HP:0001876

Symptoms via clinical synopsis from OMIM:

⁵⁶

Growth Height:
short stature

Growth Other:
growth retardation

Head And Neck Head:
microcephaly (1 patient)

Head And Neck Nose:
bulbous nasal tip (1 patient)

Head And Neck Face:
micrognathia (1 patient)

Genitourinary Kidneys:
pelvic kidney (1 patient)
horseshoe kidney (1 patient)

Skeletal Hands:
hypoplastic thumbs (1 patient)
absent thumbs (1 patient)

Hematology:
anemia
pancytopenia (4 patients)
thrombocytopenia, isolated (1 patient)

Skin Nails Hair Skin:
cafe-au-lait spots
hypopigmentation spots
vitiligo (1 patient)

Genitourinary Internal Genitalia Male:
cryptorchidism (1 patient)

Head And Neck Ears:
hearing loss (1 patient)
hypoplastic malleus (1 patient)
narrow external ear canals (1 patient)
malformed auricle (1 patient)

Head And Neck Eyes:
almond-shaped eyes (1 patient)
short palpebral fissures (1 patient)

Skeletal Limbs:
radial hypoplasia (1 patient)

Neoplasia:
squamous cell carcinoma (1 patient)

Clinical features from OMIM:

613951

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.47	ERCC6 FAAP100 FAAP24 FANCA FANCC FANCD2

MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group P:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.07	ERCC6 FANCA FANCB FANCC FANCD2 FANCE
2	endocrine/exocrine gland	MP:0005379	9.9	FANCA FANCB FANCC FANCD2 FANCE FANCF
3	neoplasm	MP:0002006	9.43	ERCC6 FANCA FANCD2 FANCF FANCM PALB2
4	reproductive system	MP:0005389	9.4	FANCA FANCB FANCC FANCD2 FANCE FANCF

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Drugs & Therapeutics for Fanconi Anemia, Complementation Group P

Search Clinical Trials , NIH Clinical Center for Fanconi Anemia, Complementation Group P

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Genetic Tests for Fanconi Anemia, Complementation Group P

Genetic tests related to Fanconi Anemia, Complementation Group P:

#	Genetic test	Affiliating Genes
1	Fanconi Anemia, Complementation Group P ²⁹	SLX4

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Anatomical Context for Fanconi Anemia, Complementation Group P

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group P:

⁴⁰

Bone, Bone Marrow, Kidney, Breast, Eye, Skin

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Publications for Fanconi Anemia, Complementation Group P

Articles related to Fanconi Anemia, Complementation Group P:

(show all 37)

#	Title	Authors	PMID	Year
1	Mutations of the SLX4 gene in Fanconi anemia. ⁶¹ ⁵⁶ ⁶	Kim Y...Smogorzewska A	21240275	2011
2	SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. ⁵⁶ ⁶	Stoepker C...de Winter JP	21240277	2011
3	Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia. ⁵⁶	Crossan GP...Patel KJ	21240276	2011
4	ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. ⁶	ACOG Committee on Genetics	19888064	2009
5	Esophageal Atresia/Tracheoesophageal Fistula Overview ⁶	Scott DA	20301753	2009
6	Carrier screening in individuals of Ashkenazi Jewish descent. ⁶	Gross SJ...Professional Practice and Guidelines Committee	18197057	2008
7	Fanconi Anemia ⁶	Mehta PA...Tolar J	20301575	2002
8	SLX4IP acts with SLX4 and XPF-ERCC1 to promote interstrand crosslink repair. ⁶¹	Zhang H...Chen J	31495888	2019
9	The role of SLX4 and its associated nucleases in DNA interstrand crosslink repair. ⁶¹	Hoogenboom WS...Knipscheer P	30576517	2019
10	Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility. ⁶¹	Ramanagoudr-Bhojappa R...Chandrasekharappa SC	30540754	2018
11	SLX4: multitasking to maintain genome stability. ⁶¹	Guervilly JH...Gaillard PH	30284473	2018
12	A low-frequency haplotype spanning SLX4/FANCP constitutes a new risk locus for early-onset breast cancer (<60 years) and is associated with reduced DNA repair capacity. ⁶¹	Surowy H...Vogel W	29044504	2018
13	Mgm101: A double-duty Rad52-like protein. ⁶¹	Rendekova J...Chovanec M	27636878	2016
14	Elucidation of the Fanconi Anemia Protein Network in Meiosis and Its Function in the Regulation of Histone Modifications. ⁶¹	Alavattam KG...Namekawa SH	27760317	2016
15	Upregulated LINE-1 Activity in the Fanconi Anemia Cancer Susceptibility Syndrome Leads to Spontaneous Pro-inflammatory Cytokine Production. ⁶¹	Bregnard C...Laguette N	27428429	2016
16	Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia. ⁶¹	Donovan FX...Chandrasekharappa SC	26841305	2016
17	Disruption of SLX4-MUS81 Function Increases the Relative Biological Effectiveness of Proton Radiation. ⁶¹	Liu Q...Willers H	27084631	2016
18	Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations. ⁶¹	Hashimoto K...Moriya M	26453996	2015
19	Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes. ⁶¹	Spinella JF...Sinnett D	26201965	2015
20	Alterations of DNA repair genes in the NCI-60 cell lines and their predictive value for anticancer drug activity. ⁶¹	Sousa FG...Pommier Y	25758781	2015
21	Nuclease delivery: versatile functions of SLX4/FANCP in genome maintenance. ⁶¹	Kim Y	24938228	2014
22	XPF-ERCC1 acts in Unhooking DNA interstrand crosslinks in cooperation with FANCD2 and FANCP/SLX4. ⁶¹	Klein Douwel D...Knipscheer P	24726325	2014
23	Resolving branched DNA intermediates with structure-specific nucleases during replication in eukaryotes. ⁶¹	Rass U	24008669	2013
24	Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families. ⁶¹	de Garibay GR...de la Hoya M	23211700	2013
25	Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4. ⁶¹	Kim Y...Smogorzewska A	23093618	2013
26	Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP. ⁶¹	Schuster B...Schindler D	23033263	2013
27	Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases. ⁶¹	Bakker JL...Waisfisz Q	22911665	2013
28	Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data. ⁶¹	Mosley JD...Roden DM	24349080	2013
29	A protein prioritization approach tailored for the FA/BRCA pathway. ⁶¹	Haitjema A...Dorsman JC	23620800	2013
30	The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4. ⁶¹	Salewsky B...Demuth I	22907656	2012
31	A prototypical Fanconi anemia pathway in lower eukaryotes? ⁶¹	McHugh PJ...Chovanec M	22895051	2012
32	Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families. ⁶¹	Fernandez-Rodriguez J...Pujana MA	22401137	2012
33	Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases. ⁶¹	Catucci I...Peterlongo P	22383991	2012
34	Components of a Fanconi-like pathway control Pso2-independent DNA interstrand crosslink repair in yeast. ⁶¹	Ward TA...McHugh PJ	22912599	2012
35	Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer. ⁶¹	Landwehr R...Dork T	21805310	2011
36	Cancel all Hollidays for SLX4 mutations: identification of a new Fanconi anemia subtype, FANCP. ⁶¹	Kang MH	21476996	2011
37	FANCP/SLX4: a Swiss army knife of DNA interstrand crosslink repair. ⁶¹	Cybulski KE...Howlett NG	21527828	2011

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Genes for Fanconi Anemia, Complementation Group P

Genes related to Fanconi Anemia, Complementation Group P (1 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLX4	SLX4 Structure-Specific Endonuclease Subunit	Protein Coding	1040.23	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	20301753 20301575 18197057 (more) 21240275 21240277 19888064
2	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	9.4	DISEASES inferred ¹⁵ ¹⁵
3	FANCI	FA Complementation Group I	Protein Coding	8.99	DISEASES inferred ¹⁵
4	SLX1A	SLX1 Homolog A, Structure-Specific Endonuclease Subunit	Protein Coding	8.76	DISEASES inferred ¹⁵
5	SLX1B	SLX1 Homolog B, Structure-Specific Endonuclease Subunit	Protein Coding	8.76	DISEASES inferred ¹⁵
6	FANCM	FA Complementation Group M	Protein Coding	8.74	DISEASES inferred ¹⁵
7	FANCD2	FA Complementation Group D2	Protein Coding	8.63	DISEASES inferred ¹⁵
8	FANCE	FA Complementation Group E	Protein Coding	8.58	DISEASES inferred ¹⁵
9	FANCA	FA Complementation Group A	Protein Coding	8.56	DISEASES inferred ¹⁵
10	FANCB	FA Complementation Group B	Protein Coding	8.56	DISEASES inferred ¹⁵
11	RAD51C	RAD51 Paralog C	Protein Coding	8.52	DISEASES inferred ¹⁵
12	FANCL	FA Complementation Group L	Protein Coding	8.41	DISEASES inferred ¹⁵
13	H2AC18	H2A Clustered Histone 18	Protein Coding	8.41	DISEASES inferred ¹⁵ ¹⁵
14	FANCF	FA Complementation Group F	Protein Coding	8.36	DISEASES inferred ¹⁵
15	FAAP24	FA Core Complex Associated Protein 24	Protein Coding	8.33	DISEASES inferred ¹⁵
16	FAAP100	FA Core Complex Associated Protein 100	Protein Coding	8.26	DISEASES inferred ¹⁵
17	FANCG	FA Complementation Group G	Protein Coding	8.25	DISEASES inferred ¹⁵
18	FANCC	FA Complementation Group C	Protein Coding	8.24	DISEASES inferred ¹⁵
19	PALB2	Partner And Localizer Of BRCA2	Protein Coding	8.19	DISEASES inferred ¹⁵

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Variations for Fanconi Anemia, Complementation Group P

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group P:

⁶ (show all 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SLX4	NM_032444.4(SLX4):c.286del (p.Thr96fs)	deletion	Pathogenic	31021		16:3658680-3658680	16:3608679-3608679
2	SLX4	NM_032444.4(SLX4):c.1093del (p.Gln365fs)	deletion	Pathogenic	31022		16:3651050-3651050	16:3601049-3601049
3	SLX4	SLX4, IVS5DS, 1-BP DUP, T, +3	duplication	Pathogenic	31023
4	SLX4	NM_032444.4(SLX4):c.1163+2T>A	SNV	Pathogenic	31024	rs773642409	16:3650978-3650978	16:3600977-3600977
5	SLX4	NM_032444.4(SLX4):c.514del (p.Leu172fs)	deletion	Pathogenic	31025	rs1567178071	16:3658452-3658452	16:3608451-3608451
6	SLX4	SLX4, 4,890-BP DEL/2-BP INS	indel	Pathogenic	31026
7	SLX4	NM_032444.4(SLX4):c.425del (p.Gly142fs)	deletion	Likely pathogenic	623231	rs757662453	16:3658541-3658541	16:3608540-3608540
8	SLX4	NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)	SNV	Conflicting interpretations of pathogenicity	319162	rs139287784	16:3640664-3640664	16:3590663-3590663
9	SLX4	NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)	SNV	Conflicting interpretations of pathogenicity	241672	rs149584080	16:3641030-3641030	16:3591029-3591029
10	SLX4	NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)	SNV	Conflicting interpretations of pathogenicity	407935	rs149126845	16:3647691-3647691	16:3597690-3597690
11	SLX4	NM_032444.4(SLX4):c.1271C>T (p.Ala424Val)	SNV	Uncertain significance	407905	rs551823420	16:3647893-3647893	16:3597892-3597892
12	SLX4	NM_032444.4(SLX4):c.4333C>T (p.Arg1445Trp)	SNV	Uncertain significance	407904	rs777967898	16:3639306-3639306	16:3589305-3589305
13	SLX4	NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser)	SNV	Uncertain significance	436778	rs138484365	16:3639255-3639255	16:3589254-3589254
14	SLX4	NM_032444.4(SLX4):c.3095C>T (p.Pro1032Leu)	SNV	Uncertain significance	456305	rs200924744	16:3640544-3640544	16:3590543-3590543
15	SLX4	NM_032444.4(SLX4):c.4765C>T (p.Arg1589Cys)	SNV	Uncertain significance	456329	rs181782315	16:3633486-3633486	16:3583485-3583485
16	SLX4	NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val)	SNV	Uncertain significance	456321	rs953994627	16:3639372-3639372	16:3589371-3589371
17	SLX4	NM_032444.4(SLX4):c.485C>T (p.Thr162Met)	SNV	Uncertain significance	456330	rs140876043	16:3658481-3658481	16:3608480-3608480
18	SLX4	NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys)	SNV	Uncertain significance	561112	rs140529288	16:3640503-3640503	16:3590502-3590502
19	SLX4	NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)	SNV	Uncertain significance	241689	rs137976282	16:3658545-3658545	16:3608544-3608544
20	SLX4	NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser)	SNV	Uncertain significance	319177	rs776189589	16:3647648-3647648	16:3597647-3597647
21	SLX4	NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys)	SNV	Uncertain significance	319154	rs142040192	16:3639699-3639699	16:3589698-3589698
22	SLX4	NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln)	SNV	Uncertain significance	319165	rs143558209	16:3641054-3641054	16:3591053-3591053
23	SLX4	NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala)	SNV	Uncertain significance	235267	rs151144102	16:3639593-3639593	16:3589592-3589592
24	SLX4	NM_032444.4(SLX4):c.2449G>C (p.Glu817Gln)	SNV	Uncertain significance	407927	rs143730668	16:3641190-3641190	16:3591189-3591189
25	SLX4	NM_032444.4(SLX4):c.1394C>T (p.Pro465Leu)	SNV	Uncertain significance	407909	rs372128800	16:3647669-3647669	16:3597668-3597668
26	SLX4	NM_032444.4(SLX4):c.802G>A (p.Val268Met)	SNV	Uncertain significance	407937	rs1060501798	16:3652267-3652267	16:3602266-3602266
27	SLX4	NM_032444.4(SLX4):c.3101G>A (p.Arg1034His)	SNV	Uncertain significance	407910	rs150453226	16:3640538-3640538	16:3590537-3590537
28	SLX4	NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del)	deletion	Uncertain significance	626021	rs1302525912	16:3639677-3639691	16:3589676-3589690
29	SLX4	NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr)	SNV	Uncertain significance	626022	rs1374316194	16:3640220-3640220	16:3590219-3590219
30	SLX4	NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter)	SNV	Uncertain significance	632251	rs1291935778	16:3633255-3633255	16:3583254-3583254
31	SLX4	NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter)	SNV	Uncertain significance	632059	rs200715208	16:3641055-3641055	16:3591054-3591054
32	SLX4	NM_032444.4(SLX4):c.1799C>T (p.Pro600Leu)	SNV	Uncertain significance	694611		16:3646279-3646279	16:3596278-3596278
33	SLX4	NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu)	SNV	Benign	262047	rs714181	16:3640274-3640274	16:3590273-3590273

Sources

Expression for Fanconi Anemia, Complementation Group P

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group P.

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Pathways for Fanconi Anemia, Complementation Group P

Pathways related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	DNA Double-Strand Break Repair ⁶⁵ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁵ DNA damage_DNA-damage-induced responses ²² DNA Repair ⁶⁵ G2/M DNA damage checkpoint ⁶⁵ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁵ HDR through MMEJ (alt-NHEJ) ⁶⁵ Homology Directed Repair ⁶⁵ Non-homologous end joining ¹ Non-homologous end-joining ³⁶ Processing of DNA double-strand break ends ⁶⁵	12.58	SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
2	Chks in Checkpoint Regulation ⁶³ Show member pathways DNA Repair Mechanisms ⁶³ Estrogen-mediated S-Phase Entry ⁶³ G2-M Phase Transition ⁶³ Parkinson's Disease Pathway ⁶³ SREBP Proteolysis ⁶³	12.47	FANCG FANCF FANCE FANCD2 FANCC FANCA
3	Homologous DNA Pairing and Strand Exchange ⁶⁵ Show member pathways ATR Signaling ¹ HDR through Homologous Recombination (HRR) ⁶⁵ HDR through Single Strand Annealing (SSA) ⁶⁵ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁵	12.1	SLX4 SLX1B SLX1A RAD51C PALB2
4	Resolution of D-loop Structures through Holliday Junction Intermediates ⁶⁵ Show member pathways Homologous recombination ¹ Homologous recombination ³⁶ Resolution of D-Loop Structures ⁶⁵ Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) ⁶⁵	11.94	SLX4 SLX1B SLX1A RAD51C PALB2
5	Fanconi anemia pathway ³⁶ ⁶⁵	11.85	SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
6	BRCA1 Pathway ⁶³ Show member pathways Fanconi's Anaemia Pathway ⁶³	11.72	FANCL FANCG FANCF FANCE FANCD2 FANCC
7	BARD1 signaling events ¹	11.16	FANCL FANCG FANCF FANCE FANCD2 FANCC

Sources

GO Terms for Fanconi Anemia, Complementation Group P

Cellular components related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	10.13	SLX4 SLX1B SLX1A RAD51C PALB2 H2AC18
2	nucleoplasm	GO:0005654	9.91	SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
3	Slx1-Slx4 complex	GO:0033557	9.43	SLX4 SLX1B SLX1A
4	Holliday junction resolvase complex	GO:0048476	9.32	SLX4 RAD51C
5	Fanconi anaemia nuclear complex	GO:0043240	9.32	FANCM FANCL FANCG FANCF FANCE FANCC

Biological processes related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	interstrand cross-link repair	GO:0036297	10.03	SLX4 SLX1B SLX1A FANCM FANCL FANCI
2	cellular response to DNA damage stimulus	GO:0006974	9.91	SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
3	DNA recombination	GO:0006310	9.8	SLX4 SLX1B SLX1A RAD51C PALB2
4	nucleic acid phosphodiester bond hydrolysis	GO:0090305	9.75	SLX1B SLX1A FANCM
5	double-strand break repair via homologous recombination	GO:0000724	9.72	SLX4 SLX1B SLX1A RAD51C PALB2
6	gamete generation	GO:0007276	9.67	FANCL FANCD2 FANCC
7	t-circle formation	GO:0090656	9.65	SLX4 SLX1B SLX1A
8	negative regulation of telomere maintenance via telomere lengthening	GO:1904357	9.63	SLX4 SLX1B SLX1A
9	telomeric D-loop disassembly	GO:0061820	9.61	SLX4 SLX1B SLX1A
10	neuronal stem cell population maintenance	GO:0097150	9.58	FANCD2 FANCC
11	DNA repair	GO:0006281	9.58	SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
12	brain morphogenesis	GO:0048854	9.57	FANCD2 FANCC
13	resolution of meiotic recombination intermediates	GO:0000712	9.56	SLX4 FANCM
14	regulation of regulatory T cell differentiation	GO:0045589	9.55	FANCD2 FANCA
15	positive regulation of double-strand break repair via homologous recombination	GO:1905168	9.54	FANCB ERCC6
16	DNA double-strand break processing involved in repair via single-strand annealing	GO:0010792	9.54	SLX4 SLX1B SLX1A
17	telomere maintenance via telomere lengthening	GO:0010833	9.52	SLX1B SLX1A
18	regulation of CD40 signaling pathway	GO:2000348	9.51	FANCD2 FANCA
19	positive regulation of t-circle formation	GO:1904431	9.43	SLX4 SLX1B SLX1A

Molecular functions related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	10.09	SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
2	DNA binding	GO:0003677	9.97	RAD51C PALB2 H2AC18 FANCM FANCI FAAP24
3	nuclease activity	GO:0004518	9.5	SLX1B SLX1A FANCM
4	DNA polymerase binding	GO:0070182	9.26	FANCI FANCD2
5	5'-flap endonuclease activity	GO:0017108	9.13	SLX4 SLX1B SLX1A
6	crossover junction endodeoxyribonuclease activity	GO:0008821	8.92	SLX4 SLX1B SLX1A RAD51C

Sources

Sources for Fanconi Anemia, Complementation Group P

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Fanconi Anemia, Complementation Group P (FANCP)

Aliases & Classifications for Fanconi Anemia, Complementation Group P

MalaCards integrated aliases for Fanconi Anemia, Complementation Group P:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Fanconi Anemia, Complementation Group P

Related Diseases for Fanconi Anemia, Complementation Group P

Diseases in the Fanconi Anemia, Complementation Group C family:

Diseases related to Fanconi Anemia, Complementation Group P via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group P:

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group P

Human phenotypes related to Fanconi Anemia, Complementation Group P:

Symptoms via clinical synopsis from OMIM:

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Expression for Fanconi Anemia, Complementation Group P

Pathways for Fanconi Anemia, Complementation Group P

Pathways related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

GO Terms for Fanconi Anemia, Complementation Group P

Cellular components related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

Biological processes related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

Molecular functions related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

Sources for Fanconi Anemia, Complementation Group P