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

FANCP MCID: FNC046 MIFTS: 50	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 Bone diseases Immune diseases Nephrological diseases Skin 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 xeroderma pigmentosum, variant type and fanconi anemia, complementation group q. 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 marrow, bone and kidney, and related phenotypes are hearing impairment and microcephaly

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 42)

#	Related Disease	Score	Top Affiliating Genes
1	xeroderma pigmentosum, variant type	27.1	SLX4 SLX1B SLX1A H2AC18 FANCM FANCL
2	fanconi anemia, complementation group q	26.0	SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
3	fanconi anemia, complementation group a	23.7	SLX4 SLX1B SLX1A RAD51C PALB2 H2AC18
4	maternal uniparental disomy	10.3	SLX4 FANCA
5	maternal uniparental disomy of chromosome 16	10.3	SLX4 FANCA
6	xfe progeroid syndrome	10.2	SLX4 ERCC6
7	hutchinson-gilford progeria syndrome	10.2
8	anemia, x-linked, with or without neutropenia and/or platelet abnormalities	10.2
9	deficiency anemia	10.2
10	cockayne syndrome	10.2
11	fanconi anemia, complementation group l	10.1	FANCL FANCD2
12	peliosis hepatis	10.1	FANCG FANCA
13	severe combined immunodeficiency with sensitivity to ionizing radiation	10.0	H2AC18 ERCC6
14	vacterl association	10.0	FANCL FANCI FANCB
15	interstitial nephritis, karyomegalic	9.9	SLX4 SLX1B SLX1A FANCI FANCD2
16	autosomal recessive cerebellar ataxia	9.9	H2AC18 FANCB ERCC6
17	esophageal atresia/tracheoesophageal fistula	9.9	FANCC FANCB FANCA
18	tracheoesophageal fistula with or without esophageal atresia	9.8	PALB2 FANCC
19	peritoneum cancer	9.8	RAD51C PALB2 H2AC18
20	nijmegen breakage syndrome	9.7	H2AC18 FANCF FANCD2 FANCB
21	hereditary breast ovarian cancer syndrome	9.6	RAD51C PALB2 FANCG
22	sporadic breast cancer	9.6	RAD51C PALB2 FANCF FANCD2
23	lynch syndrome	9.6	RAD51C PALB2 H2AC18 ERCC6
24	breast-ovarian cancer, familial 1	9.6	RAD51C PALB2
25	xeroderma pigmentosum, complementation group f	9.4	SLX4 SLX1B SLX1A FANCM FANCD2 FAAP24
26	fanconi anemia, complementation group d2	9.4	H2AC18 FANCI FANCG FANCD2 FANCB FANCA
27	fanconi anemia, complementation group e	9.2	FANCG FANCF FANCE FANCD2 FANCC FANCA
28	seckel syndrome	9.1	H2AC18 FANCM FANCI FANCE FANCD2 FANCA
29	fanconi anemia, complementation group c	9.1	FANCL FANCI FANCF FANCD2 FANCC FANCB
30	fanconi anemia, complementation group f	9.0	H2AC18 FANCG FANCF FANCE FANCD2 FANCC
31	fanconi anemia, complementation group b	8.8	FANCL FANCG FANCF FANCE FANCD2 FANCC
32	fanconi anemia, complementation group u	8.8	SLX4 RAD51C FANCM FANCL FANCI FANCF
33	squamous cell carcinoma, head and neck	8.6	H2AC18 FANCL FANCG FANCF FANCE FANCD2
34	fanconi anemia, complementation group i	8.2	H2AC18 FANCM FANCI FANCF FANCD2 FANCA
35	esophageal atresia	8.1	FANCM FANCL FANCI FANCG FANCF FANCE
36	fanconi anemia, complementation group v	7.9	SLX4 FANCM FANCL FANCI FANCE FANCD2
37	fanconi anemia, complementation group r	7.5	SLX4 RAD51C PALB2 FANCM FANCL FANCI
38	fanconi anemia, complementation group t	6.5	SLX4 H2AC18 FANCM FANCL FANCI FANCG
39	fanconi anemia, complementation group o	6.5	SLX4 RAD51C PALB2 FANCM FANCL FANCI
40	fanconi anemia, complementation group n	6.2	SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
41	fanconi anemia, complementation group j	6.2	SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
42	fanconi anemia, complementation group d1	6.2	SLX4 RAD51C PALB2 H2AC18 FANCM FANCL

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	microcephaly ³¹	occasional (7.5%)	HP:0000252
3	cryptorchidism ³¹	occasional (7.5%)	HP:0000028
4	micrognathia ³¹	occasional (7.5%)	HP:0000347
5	horseshoe kidney ³¹	occasional (7.5%)	HP:0000085
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	short palpebral fissure ³¹	occasional (7.5%)	HP:0012745
13	absent thumb ³¹	occasional (7.5%)	HP:0009777
14	squamous cell carcinoma ³¹	occasional (7.5%)	HP:0002860
15	short stature ³¹		HP:0004322
16	anemia ³¹		HP:0001903
17	cafe-au-lait spot ³¹		HP:0000957
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	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.62	ERCC6 FANCA FANCD2 PALB2
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.62	ERCC6 FANCA FANCD2 FANCM PALB2
3	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.62	ERCC6 FAAP24 FANCA FANCC FANCD2 FANCE

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.1	ERCC6 FAAP20 FANCA FANCB FANCC FANCD2
2	endocrine/exocrine gland	MP:0005379	9.93	FAAP20 FANCA FANCB FANCC FANCD2 FANCE
3	reproductive system	MP:0005389	9.44	FAAP20 FANCA FANCB FANCC FANCD2 FANCE
4	neoplasm	MP:0002006	9.43	ERCC6 FANCA FANCD2 FANCF FANCM PALB2

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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 Marrow, Bone, Kidney, Breast, Eye

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Publications for Fanconi Anemia, Complementation Group P

Articles related to Fanconi Anemia, Complementation Group P:

(show all 39)

#	Title	Authors	PMID	Year
1	Mutations of the SLX4 gene in Fanconi anemia. ⁶ ⁵⁶ ⁶¹	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	Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis. ⁶¹	Alter BP...Best AF	32488392	2020
9	Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. ⁶¹	Del Valle J...Lazaro C	32235514	2020
10	SLX4IP acts with SLX4 and XPF-ERCC1 to promote interstrand crosslink repair. ⁶¹	Zhang H...Chen J	31495888	2019
11	The role of SLX4 and its associated nucleases in DNA interstrand crosslink repair. ⁶¹	Hoogenboom WS...Knipscheer P	30576517	2019
12	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
13	SLX4: multitasking to maintain genome stability. ⁶¹	Guervilly JH...Gaillard PH	30284473	2018
14	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
15	Mgm101: A double-duty Rad52-like protein. ⁶¹	Rendekova J...Chovanec M	27636878	2016
16	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
17	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
18	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
19	Disruption of SLX4-MUS81 Function Increases the Relative Biological Effectiveness of Proton Radiation. ⁶¹	Liu Q...Willers H	27084631	2016
20	Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations. ⁶¹	Hashimoto K...Moriya M	26453996	2015
21	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
22	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
23	Nuclease delivery: versatile functions of SLX4/FANCP in genome maintenance. ⁶¹	Kim Y	24938228	2014
24	XPF-ERCC1 acts in Unhooking DNA interstrand crosslinks in cooperation with FANCD2 and FANCP/SLX4. ⁶¹	Klein Douwel D...Knipscheer P	24726325	2014
25	Resolving branched DNA intermediates with structure-specific nucleases during replication in eukaryotes. ⁶¹	Rass U	24008669	2013
26	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
27	Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP. ⁶¹	Schuster B...Schindler D	23033263	2013
28	Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases. ⁶¹	Bakker JL...Waisfisz Q	22911665	2013
29	Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4. ⁶¹	Kim Y...Smogorzewska A	23093618	2013
30	A protein prioritization approach tailored for the FA/BRCA pathway. ⁶¹	Haitjema A...Dorsman JC	23620800	2013
31	Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data. ⁶¹	Mosley JD...Roden DM	24349080	2013
32	The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4. ⁶¹	Salewsky B...Demuth I	22907656	2012
33	A prototypical Fanconi anemia pathway in lower eukaryotes? ⁶¹	McHugh PJ...Chovanec M	22895051	2012
34	Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families. ⁶¹	Fernandez-Rodriguez J...Pujana MA	22401137	2012
35	Components of a Fanconi-like pathway control Pso2-independent DNA interstrand crosslink repair in yeast. ⁶¹	Ward TA...McHugh PJ	22912599	2012
36	Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases. ⁶¹	Catucci I...Peterlongo P	22383991	2012
37	Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer. ⁶¹	Landwehr R...Dork T	21805310	2011
38	Cancel all Hollidays for SLX4 mutations: identification of a new Fanconi anemia subtype, FANCP. ⁶¹	Kang MH	21476996	2011
39	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 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLX4	SLX4 Structure-Specific Endonuclease Subunit	Protein Coding	1042.18	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) 19888064 21240275 21240277
2	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	10.19	DISEASES inferred ¹⁵ ¹⁵
3	FANCI	FA Complementation Group I	Protein Coding	8.98	DISEASES inferred ¹⁵
4	FANCM	FA Complementation Group M	Protein Coding	8.73	DISEASES inferred ¹⁵
5	SLX1A	SLX1 Homolog A, Structure-Specific Endonuclease Subunit	Protein Coding	8.68	DISEASES inferred ¹⁵
6	SLX1B	SLX1 Homolog B, Structure-Specific Endonuclease Subunit	Protein Coding	8.68	DISEASES inferred ¹⁵
7	FANCD2	FA Complementation Group D2	Protein Coding	8.66	DISEASES inferred ¹⁵
8	FANCE	FA Complementation Group E	Protein Coding	8.57	DISEASES inferred ¹⁵
9	RAD51C	RAD51 Paralog C	Protein Coding	8.53	DISEASES inferred ¹⁵
10	FANCA	FA Complementation Group A	Protein Coding	8.52	DISEASES inferred ¹⁵
11	H2AC18	H2A Clustered Histone 18	Protein Coding	8.46	DISEASES inferred ¹⁵ ¹⁵
12	FANCL	FA Complementation Group L	Protein Coding	8.43	DISEASES inferred ¹⁵
13	FANCF	FA Complementation Group F	Protein Coding	8.41	DISEASES inferred ¹⁵
14	FANCB	FA Complementation Group B	Protein Coding	8.31	DISEASES inferred ¹⁵
15	FANCG	FA Complementation Group G	Protein Coding	8.29	DISEASES inferred ¹⁵
16	FANCC	FA Complementation Group C	Protein Coding	8.24	DISEASES inferred ¹⁵
17	FAAP24	FA Core Complex Associated Protein 24	Protein Coding	8.22	DISEASES inferred ¹⁵
18	PALB2	Partner And Localizer Of BRCA2	Protein Coding	8.17	DISEASES inferred ¹⁵
19	FAAP100	FA Core Complex Associated Protein 100	Protein Coding	8.17	DISEASES inferred ¹⁵
20	FAAP20	FA Core Complex Associated Protein 20	Protein Coding	8.1	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 top 50) (show all 257) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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.192A>G (p.Lys64=)	SNV	Conflicting interpretations of pathogenicity	456292	rs756720856	16:3658774-3658774	16:3608773-3608773
9	SLX4	NM_032444.4(SLX4):c.630A>G (p.Leu210=)	SNV	Conflicting interpretations of pathogenicity	526487	rs746155183	16:3656605-3656605	16:3606604-3606604
10	SLX4	NM_032444.4(SLX4):c.4830C>T (p.Ser1610=)	SNV	Conflicting interpretations of pathogenicity	699428		16:3633421-3633421	16:3583420-3583420
11	SLX4	NM_032444.4(SLX4):c.4740-6C>T	SNV	Conflicting interpretations of pathogenicity	697745		16:3633517-3633517	16:3583516-3583516
12	SLX4	NM_032444.4(SLX4):c.738A>G (p.Gln246=)	SNV	Conflicting interpretations of pathogenicity	705304		16:3656497-3656497	16:3606496-3606496
13	SLX4	NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro)	SNV	Conflicting interpretations of pathogenicity	188281	rs201582780	16:3640272-3640272	16:3590271-3590271
14	SLX4	NM_032444.4(SLX4):c.3774C>T (p.Pro1258=)	SNV	Conflicting interpretations of pathogenicity	215952	rs146054214	16:3639865-3639865	16:3589864-3589864
15	SLX4	NM_032444.4(SLX4):c.339T>C (p.Ser113=)	SNV	Conflicting interpretations of pathogenicity	215951	rs144326379	16:3658627-3658627	16:3608626-3608626
16	SLX4	NM_032444.4(SLX4):c.231A>G (p.Gln77=)	SNV	Conflicting interpretations of pathogenicity	241670	rs143279888	16:3658735-3658735	16:3608734-3608734
17	SLX4	NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)	SNV	Conflicting interpretations of pathogenicity	407938	rs140600202	16:3641280-3641280	16:3591279-3591279
18	SLX4	NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp)	SNV	Conflicting interpretations of pathogenicity	414700	rs144273492	16:3640461-3640461	16:3590460-3590460
19	SLX4	NM_032444.4(SLX4):c.86G>A (p.Arg29His)	SNV	Conflicting interpretations of pathogenicity	407911	rs149117119	16:3658880-3658880	16:3608879-3608879
20	SLX4	NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)	SNV	Conflicting interpretations of pathogenicity	407935	rs149126845	16:3647691-3647691	16:3597690-3597690
21	SLX4	NM_032444.4(SLX4):c.3189C>T (p.Gly1063=)	SNV	Conflicting interpretations of pathogenicity	414713	rs200742809	16:3640450-3640450	16:3590449-3590449
22	SLX4	NM_032444.4(SLX4):c.422G>T (p.Gly141Val)	SNV	Conflicting interpretations of pathogenicity	423992	rs77306735	16:3658544-3658544	16:3608543-3608543
23	SLX4	NM_032444.4(SLX4):c.4530G>T (p.Leu1510=)	SNV	Conflicting interpretations of pathogenicity	436777	rs139254595	16:3639109-3639109	16:3589108-3589108
24	SLX4	NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)	SNV	Conflicting interpretations of pathogenicity	456339	rs201192909	16:3652236-3652236	16:3602235-3602235
25	SLX4	NM_032444.4(SLX4):c.426T>A (p.Gly142=)	SNV	Conflicting interpretations of pathogenicity	456322	rs377500336	16:3658540-3658540	16:3608539-3608539
26	SLX4	NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly)	SNV	Conflicting interpretations of pathogenicity	436779	rs140051968	16:3639615-3639615	16:3589614-3589614
27	SLX4	NM_032444.4(SLX4):c.85C>T (p.Arg29Cys)	SNV	Conflicting interpretations of pathogenicity	456340	rs144832924	16:3658881-3658881	16:3608880-3608880
28	SLX4	NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)	SNV	Conflicting interpretations of pathogenicity	241672	rs149584080	16:3641030-3641030	16:3591029-3591029
29	SLX4	NM_032444.4(SLX4):c.1707G>A (p.Pro569=)	SNV	Conflicting interpretations of pathogenicity	241666	rs141687678	16:3646371-3646371	16:3596370-3596370
30	SLX4	NM_032444.4(SLX4):c.590T>C (p.Val197Ala)	SNV	Conflicting interpretations of pathogenicity	241698	rs147826749	16:3656645-3656645	16:3606644-3606644
31	SLX4	NM_032444.4(SLX4):c.742G>A (p.Glu248Lys)	SNV	Conflicting interpretations of pathogenicity	319184	rs148547201	16:3656493-3656493	16:3606492-3606492
32	SLX4	NM_032444.4(SLX4):c.4494G>A (p.Leu1498=)	SNV	Conflicting interpretations of pathogenicity	319152	rs146532299	16:3639145-3639145	16:3589144-3589144
33	SLX4	NM_032444.4(SLX4):c.489T>G (p.Gly163=)	SNV	Conflicting interpretations of pathogenicity	319186	rs201211891	16:3658477-3658477	16:3608476-3608476
34	SLX4	NM_032444.4(SLX4):c.3912C>T (p.Val1304=)	SNV	Conflicting interpretations of pathogenicity	319156	rs140254478	16:3639727-3639727	16:3589726-3589726
35	SLX4	NM_032444.4(SLX4):c.1911G>T (p.Ser637=)	SNV	Conflicting interpretations of pathogenicity	319172	rs200013924	16:3646167-3646167	16:3596166-3596166
36	SLX4	NM_032444.4(SLX4):c.2235C>T (p.Thr745=)	SNV	Conflicting interpretations of pathogenicity	319166	rs75184268	16:3642792-3642792	16:3592791-3592791
37	SLX4	NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)	SNV	Conflicting interpretations of pathogenicity	319162	rs139287784	16:3640664-3640664	16:3590663-3590663
38	SLX4	NM_032444.4(SLX4):c.4347G>A (p.Leu1449=)	SNV	Conflicting interpretations of pathogenicity	319153	rs373300793	16:3639292-3639292	16:3589291-3589291
39	SLX4	NM_032444.4(SLX4):c.3118C>T (p.Pro1040Ser)	SNV	Uncertain significance	319158	rs201359490	16:3640521-3640521	16:3590520-3590520
40	SLX4	NM_032444.4(SLX4):c.-416G>A	SNV	Uncertain significance	319203	rs528320603	16:3659381-3659381	16:3609380-3609380
41	SLX4	NM_032444.4(SLX4):c.-603+8G>C	SNV	Uncertain significance	319206	rs886051987	16:3661553-3661553	16:3611552-3611552
42	SLX4	NM_032444.4(SLX4):c.5042C>T (p.Ser1681Leu)	SNV	Uncertain significance	319145	rs530123827	16:3633209-3633209	16:3583208-3583208
43	SLX4	NM_032444.4(SLX4):c.4918G>C (p.Gly1640Arg)	SNV	Uncertain significance	319147	rs368102037	16:3633333-3633333	16:3583332-3583332
44	SLX4	NM_032444.4(SLX4):c.4889C>A (p.Ala1630Asp)	SNV	Uncertain significance	319148	rs886051977	16:3633362-3633362	16:3583361-3583361
45	SLX4	NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)	SNV	Uncertain significance	319164	rs145137472	16:3640958-3640958	16:3590957-3590957
46	SLX4	NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser)	SNV	Uncertain significance	319168	rs571330689	16:3644557-3644557	16:3594556-3594556
47	SLX4	NM_032444.4(SLX4):c.2006G>A (p.Arg669His)	SNV	Uncertain significance	319169	rs200807331	16:3645613-3645613	16:3595612-3595612
48	SLX4	NM_032444.4(SLX4):c.1583G>A (p.Ser528Asn)	SNV	Uncertain significance	319174	rs752899329	16:3647480-3647480	16:3597479-3597479
49	SLX4	NM_032444.4(SLX4):c.1547C>T (p.Ala516Val)	SNV	Uncertain significance	319175	rs199683722	16:3647516-3647516	16:3597515-3597515
50	SLX4	NM_032444.4(SLX4):c.1520G>A (p.Arg507Lys)	SNV	Uncertain significance	319176	rs762550449	16:3647543-3647543	16:3597542-3597542

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	12.6	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 ³⁶ Homologous recombination ¹ 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 ⁶⁵ ³⁶	11.88	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	10.16	SLX4 SLX1B SLX1A RAD51C PALB2 H2AC18
2	nucleoplasm	GO:0005654	9.93	SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
3	nuclear body	GO:0016604	9.67	FANCL FANCD2 FAAP20 ERCC6
4	Slx1-Slx4 complex	GO:0033557	9.43	SLX4 SLX1B SLX1A
5	Fanconi anaemia nuclear complex	GO:0043240	9.36	FANCM FANCL FANCG FANCF FANCE FANCC
6	Holliday junction resolvase complex	GO:0048476	9.32	SLX4 RAD51C

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	10.06	SLX4 SLX1B SLX1A FANCM FANCL FANCI
2	cellular response to DNA damage stimulus	GO:0006974	9.93	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	9.74	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	DNA repair	GO:0006281	9.6	SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
11	neuronal stem cell population maintenance	GO:0097150	9.58	FANCD2 FANCC
12	brain morphogenesis	GO:0048854	9.58	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	10.11	SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
2	DNA binding	GO:0003677	10.01	RAD51C PALB2 H2AC18 FANCM FANCI FAAP24
3	nuclease activity	GO:0004518	9.54	SLX1B SLX1A FANCM
4	DNA polymerase binding	GO:0070182	9.32	FANCI FANCD2
5	four-way junction DNA binding	GO:0000400	9.26	RAD51C FANCM
6	5'-flap endonuclease activity	GO:0017108	9.13	SLX4 SLX1B SLX1A
7	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

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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:

Clinical features from OMIM:

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

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

Drugs & Therapeutics for Fanconi Anemia, Complementation Group P

Genetic Tests for Fanconi Anemia, Complementation Group P

Genetic tests related to Fanconi Anemia, Complementation Group P:

Anatomical Context for Fanconi Anemia, Complementation Group P

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

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Genes for Fanconi Anemia, Complementation Group P

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

Variations for Fanconi Anemia, Complementation Group P

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

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