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

FANCN MCID: FNC023 MIFTS: 48	Fanconi Anemia, Complementation Group N (FANCN) 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 N

MalaCards integrated aliases for Fanconi Anemia, Complementation Group N:

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

Fanconi Anemia Complementation Group N ¹² ⁷³ ¹⁵

Fancn ⁵⁶ ¹² ⁷³

Characteristics:

HPO:

³¹

fanconi anemia, complementation group n:
Inheritance autosomal recessive inheritance

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:0111094

OMIM ⁵⁶ 610832

OMIM Phenotypic Series ⁵⁶ PS227650

MeSH ⁴³ D005199

MedGen ⁴¹ C1835817

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Summaries for Fanconi Anemia, Complementation Group N

OMIM : ⁵⁶ Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (610832)

MalaCards based summary : Fanconi Anemia, Complementation Group N, also known as fanconi anemia complementation group n, is related to maternal uniparental disomy and maternal uniparental disomy of chromosome 16. An important gene associated with Fanconi Anemia, Complementation Group N is PALB2 (Partner And Localizer Of BRCA2), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Affiliated tissues include bone marrow, bone and breast, and related phenotypes are nephroblastoma and neuroblastoma

Disease Ontology : ¹² A Fanconi anemia that has material basis in compound heterozygous mutation in the PALB2 gene on chromosome 16p12.

UniProtKB/Swiss-Prot : ⁷³ Fanconi anemia complementation group N: 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.

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Related Diseases for Fanconi Anemia, Complementation Group N

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

(show top 50) (show all 52)

#	Related Disease	Score	Top Affiliating Genes
1	maternal uniparental disomy	10.4	SLX4 FANCA
2	maternal uniparental disomy of chromosome 16	10.4	SLX4 FANCA
3	interstitial nephritis, karyomegalic	10.2	SLX4 FANCI FANCD2
4	severe combined immunodeficiency with sensitivity to ionizing radiation	10.2	H2AC18 ERCC6
5	peliosis hepatis	10.2	FANCG FANCA
6	xfe progeroid syndrome	10.2	SLX4 ERCC6
7	hereditary site-specific ovarian cancer syndrome	10.1	RAD51C BRCA2
8	ovarian carcinosarcoma	10.1	H2AC18 BRCA2
9	cervical adenoma malignum	10.1	PALB2 BRCA2
10	breast-ovarian cancer, familial 1	10.0	RAD51C PALB2 BRCA2
11	vacterl association	10.0	FANCL FANCI FANCB
12	fallopian tube disease	10.0	RAD51C PALB2 BRCA2
13	tracheoesophageal fistula with or without esophageal atresia	10.0	PALB2 FANCC BRCA2
14	fallopian tube carcinoma	10.0	RAD51C PALB2 BRCA2
15	ovary epithelial cancer	10.0	H2AC18 ERCC6 BRCA2
16	trichothiodystrophy 1, photosensitive	9.9	H2AC18 ERCC6 BRIP1
17	malignant ovarian surface epithelial-stromal neoplasm	9.9	H2AC18 ERCC6 BRCA2
18	bloom syndrome	9.9	FANCM FANCA BRCA2
19	peritoneum cancer	9.9	RAD51C PALB2 H2AC18 BRCA2
20	dysplastic nevus syndrome	9.9	PALB2 BRCA2
21	xeroderma pigmentosum, complementation group f	9.9	SLX4 FANCM FANCD2 FAAP24 ERCC6
22	li-fraumeni syndrome	9.8	RAD51C PALB2 BRCA2
23	nijmegen breakage syndrome	9.8	H2AC18 FANCF FANCD2 FANCB
24	familial ovarian cancer	9.8	BRIP1 BRCA2
25	fanconi anemia, complementation group l	9.8	UBE2T FANCL FANCD2
26	lynch syndrome	9.7	RAD51C PALB2 H2AC18 ERCC6 BRCA2
27	tumor predisposition syndrome	9.7	PALB2 BRCA2
28	autosomal recessive cerebellar ataxia	9.7	H2AC18 FANCB ERCC6 BRCA2
29	sporadic breast cancer	9.6	RAD51C PALB2 FANCF FANCD2 BRCA2
30	cowden syndrome	9.5	RAD51C PALB2 BRIP1 BRCA2
31	fanconi anemia, complementation group e	9.4	FANCG FANCF FANCE FANCD2 FANCC FANCA
32	fanconi anemia, complementation group i	9.3	H2AC18 FANCM FANCI FANCF FANCD2 FANCA
33	hereditary breast ovarian cancer syndrome	9.3	RAD51C PALB2 FANCG BRIP1 BRCA2
34	fanconi anemia, complementation group c	9.2	FANCL FANCI FANCF FANCD2 FANCC FANCB
35	esophageal atresia/tracheoesophageal fistula	9.2	FANCC FANCB FANCA BRIP1 BRCA2
36	fanconi anemia, complementation group d2	9.1	H2AC18 FANCI FANCG FANCD2 FANCB FANCA
37	seckel syndrome	9.1	H2AC18 FANCM FANCI FANCE FANCD2 FANCA
38	fanconi anemia, complementation group f	8.9	H2AC18 FANCG FANCF FANCE FANCD2 FANCC
39	squamous cell carcinoma, head and neck	8.9	H2AC18 FANCL FANCG FANCF FANCE FANCD2
40	fanconi anemia, complementation group b	8.9	FANCL FANCG FANCF FANCE FANCD2 FANCC
41	esophageal atresia	8.6	FANCM FANCL FANCI FANCG FANCF FANCE
42	xeroderma pigmentosum, variant type	8.3	SLX4 H2AC18 FANCM FANCL FANCI FANCG
43	fanconi anemia, complementation group u	8.1	UBE2T SLX4 RAD51C FANCM FANCL FANCI
44	fanconi anemia, complementation group v	7.9	UBE2T SLX4 FANCM FANCL FANCI FANCE
45	fanconi anemia, complementation group p	7.3	SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
46	fanconi anemia, complementation group r	7.3	UBE2T SLX4 RAD51C PALB2 FANCM FANCL
47	fanconi anemia, complementation group q	7.3	UBE2T SLX4 RAD51C PALB2 FANCM FANCL
48	fanconi anemia, complementation group t	7.0	UBE2T SLX4 H2AC18 FANCM FANCL FANCI
49	fanconi anemia, complementation group o	6.8	UBE2T SLX4 RAD51C PALB2 FANCM FANCL
50	fanconi anemia, complementation group j	6.4	SLX4 RAD51C PALB2 H2AC18 FANCM FANCL

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

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Symptoms & Phenotypes for Fanconi Anemia, Complementation Group N

Human phenotypes related to Fanconi Anemia, Complementation Group N:

³¹ (show all 13)

#	Description	HPO Frequency	HPO Source Accession
1	nephroblastoma ³¹	occasional (7.5%)	HP:0002667
2	neuroblastoma ³¹	occasional (7.5%)	HP:0003006
3	hypertelorism ³¹		HP:0000316
4	short neck ³¹		HP:0000470
5	microcephaly ³¹		HP:0000252
6	postnatal growth retardation ³¹		HP:0008897
7	epicanthus ³¹		HP:0000286
8	ventricular septal defect ³¹		HP:0001629
9	short thumb ³¹		HP:0009778
10	cafe-au-lait spot ³¹		HP:0000957
11	medulloblastoma ³¹		HP:0002885
12	aplastic anemia ³¹		HP:0001915
13	chromosomal breakage induced by crosslinking agents ³¹		HP:0003221

Clinical features from OMIM:

610832

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group N 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	9.98	BRCA2 ERCC6 FANCA FANCD2 PALB2 UBE2T
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.98	BRCA2 ERCC6 FANCA FANCD2 FANCM PALB2
3	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.98	BRCA2 ERCC6 FANCA FANCD2 UBE2T FAAP24
4	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.77	FANCM
5	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.77	BRIP1 FANCA FANCD2 FANCM PALB2 UBE2T
6	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.77	BRCA2 BRIP1 FANCA FANCM PALB2 UBE2T

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.1	BRCA2 BRIP1 ERCC6 FANCA FANCB FANCC
2	endocrine/exocrine gland	MP:0005379	9.97	BRCA2 BRIP1 FANCA FANCB FANCC FANCD2
3	neoplasm	MP:0002006	9.56	BRCA2 BRIP1 ERCC6 FANCA FANCD2 FANCF
4	reproductive system	MP:0005389	9.44	BRCA2 BRIP1 FANCA FANCB FANCC FANCD2

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Drugs & Therapeutics for Fanconi Anemia, Complementation Group N

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

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Genetic Tests for Fanconi Anemia, Complementation Group N

Genetic tests related to Fanconi Anemia, Complementation Group N:

#	Genetic test	Affiliating Genes
1	Fanconi Anemia, Complementation Group N ²⁹	PALB2

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Anatomical Context for Fanconi Anemia, Complementation Group N

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

⁴⁰

Bone Marrow, Bone, Breast, Testes, T Cells

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Publications for Fanconi Anemia, Complementation Group N

Articles related to Fanconi Anemia, Complementation Group N:

(show top 50) (show all 51)

#	Title	Authors	PMID	Year
1	Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. ⁶¹ ⁵⁶ ⁶	Reid S...Rahman N	17200671	2007
2	Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. ⁵⁶ ⁶	Xia B...de Winter JP	17200672	2007
3	PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. ⁶¹ ⁶	Rahman N...Stratton MR	17200668	2007
4	Fanconi anemia: at the crossroads of DNA repair. ⁵⁶	Deakyne JS...Mazin AV	21568838	2011
5	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
6	Esophageal Atresia / Tracheoesophageal Fistula Overview ⁶	Scott DA	20301753	2009
7	Carrier screening in individuals of Ashkenazi Jewish descent. ⁶	Gross SJ...Professional Practice and Guidelines Committee	18197057	2008
8	Fanconi Anemia ⁶	Mehta PA...Tolar J	20301575	2002
9	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
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	PALB2 (partner and localizer of BRCA2). ⁶¹	Hanenberg H...Andreassen PR	31413733	2018
12	Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. ⁶¹	Catucci I...Peterlongo P	28837162	2018
13	[PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic]. ⁶¹	Janatova M...Kleibl Z	26691940	2016
14	ATM-dependent Phosphorylation of the Fanconi Anemia Protein PALB2 Promotes the DNA Damage Response. ⁶¹	Guo Y...Huen MS	26420486	2015
15	Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. ⁶¹	Bogliolo M...Surralles J	26254775	2015
16	Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. ⁶¹	Sawyer SL...Greenberg RA	25472942	2015
17	Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup. ⁶¹	Miele E...Ferretti E	26064523	2015
18	Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. ⁶¹	Park JY...Andreassen PR	24141787	2014
19	Hypersensitivities for acetaldehyde and other agents among cancer cells null for clinically relevant Fanconi anemia genes. ⁶¹	Ghosh S...Kern SE	24200853	2014
20	Breast cancer genes: beyond BRCA1 and BRCA2. ⁶¹	Filippini SE...Vega A	23747889	2013
21	Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines. ⁶¹	Wark L...Tischkowitz M	23341105	2013
22	No evidence for PALB2 methylation in high-grade serous ovarian cancer. ⁶¹	Mikeska T...Dobrovic A	23587053	2013
23	Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. ⁶¹	Litim N...Durocher F	23021409	2013
24	Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. ⁶¹	Blanco A...Vega A	23935836	2013
25	Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma. ⁶¹	Smetsers S...Meyer S	22829014	2012
26	PALB2 interacts with KEAP1 to promote NRF2 nuclear accumulation and function. ⁶¹	Ma J...Xia B	22331464	2012
27	Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes. ⁶¹	Rebbeck TR...Nathanson KL	21799032	2011
28	Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinoma. ⁶¹	Szaumkessel M...Siebert R	21567085	2011
29	Using mouse models to investigate the biological and physiological consequences of defects in the Fanconi anaemia/breast cancer DNA repair signalling pathway. ⁶¹	Tischkowitz M...Winqvist R	21557222	2011
30	PALB2/FANCN: recombining cancer and Fanconi anemia. ⁶¹	Tischkowitz M...Xia B	20858716	2010
31	Fanconi anemia gene mutations are not involved in sporadic Wilms tumor. ⁶¹	Adank MA...van den Heuvel-Eibrink MM	20589654	2010
32	Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer. ⁶¹	Guenard F...Durocher F	20722467	2010
33	The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. ⁶¹	Barroso E...Ribas G	19536649	2009
34	Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. ⁶¹	Zhi G...Kupfer GM	19861535	2009
35	Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. ⁶¹	Garcia MJ...Benitez J	19737859	2009
36	Recruitment of fanconi anemia and breast cancer proteins to DNA damage sites is differentially governed by replication. ⁶¹	Shen X...Li L	19748364	2009
37	Cellular and molecular consequences of defective Fanconi anemia proteins in replication-coupled DNA repair: mechanistic insights. ⁶¹	Thompson LH...Hinz JM	19622404	2009
38	FANCM-FAAP24 and FANCJ: FA proteins that metabolize DNA. ⁶¹	Ali AM...Meetei AR	19379763	2009
39	The Fanconi anemia/BRCA gene network in zebrafish: embryonic expression and comparative genomics. ⁶¹	Titus TA...Postlethwait JH	19101574	2009
40	PALB2 links BRCA1 and BRCA2 in the DNA-damage response. ⁶¹	Zhang F...Yu X	19268590	2009
41	Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. ⁶¹	Garcia MJ...Benitez J	18302019	2009
42	A possible approach for stem cell gene therapy of Fanconi anemia. ⁶¹	Song L	19275569	2009
43	Defects of FA/BRCA pathway in lymphoma cell lines. ⁶¹	Xiao H...Xia B	19011769	2008
44	[Search for Fanconi anemia/BRCA pathway defects in lymphoma cell lines]. ⁶¹	Xiao H...Xia B	18841560	2008
45	Promoter hypermethylation of the PALB2 susceptibility gene in inherited and sporadic breast and ovarian cancer. ⁶¹	Potapova A...Cairns P	18281473	2008
46	[A role for PALB2/FANCN in breast cancer predisposition?]. ⁶¹	Hamel N...Foulkes WD	18272064	2008
47	The Fanconi anaemia/BRCA pathway and cancer susceptibility. Searching for new therapeutic targets. ⁶¹	Garcia MJ...Benitez J	18258506	2008
48	Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families. ⁶¹	Guenard F...Durocher F	18414782	2008
49	The Fanconi anemia pathway and ubiquitin. ⁶¹	Jacquemont C...Taniguchi T	18047734	2007
50	Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. ⁶¹	Wang W	17768402	2007

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Genes for Fanconi Anemia, Complementation Group N

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

(show all 21)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PALB2	Partner And Localizer Of BRCA2	Protein Coding	1040.6	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	20301753 17200668 17200671 (more) 20301575 18197057 17200672 19888064
2	H2AC18	H2A Clustered Histone 18	Protein Coding	9.7	DISEASES inferred ¹⁵ ¹⁵
3	FANCI	FA Complementation Group I	Protein Coding	9.25	DISEASES inferred ¹⁵
4	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	9.06	DISEASES inferred ¹⁵ ¹⁵
5	FANCD2	FA Complementation Group D2	Protein Coding	8.94	DISEASES inferred ¹⁵
6	FANCA	FA Complementation Group A	Protein Coding	8.9	DISEASES inferred ¹⁵
7	FANCM	FA Complementation Group M	Protein Coding	8.89	DISEASES inferred ¹⁵
8	FANCE	FA Complementation Group E	Protein Coding	8.82	DISEASES inferred ¹⁵
9	RAD51C	RAD51 Paralog C	Protein Coding	8.81	DISEASES inferred ¹⁵
10	FANCL	FA Complementation Group L	Protein Coding	8.76	DISEASES inferred ¹⁵
11	SLX4	SLX4 Structure-Specific Endonuclease Subunit	Protein Coding	8.75	DISEASES inferred ¹⁵
12	FAAP24	FA Core Complex Associated Protein 24	Protein Coding	8.65	DISEASES inferred ¹⁵
13	FAAP100	FA Core Complex Associated Protein 100	Protein Coding	8.6	DISEASES inferred ¹⁵
14	FANCC	FA Complementation Group C	Protein Coding	8.6	DISEASES inferred ¹⁵
15	FANCF	FA Complementation Group F	Protein Coding	8.59	DISEASES inferred ¹⁵
16	FANCG	FA Complementation Group G	Protein Coding	8.59	DISEASES inferred ¹⁵
17	FANCB	FA Complementation Group B	Protein Coding	8.56	DISEASES inferred ¹⁵
18	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	8.45	DISEASES inferred ¹⁵
19	BRIP1	BRCA1 Interacting Protein C-Terminal Helicase 1	Protein Coding	8.2	DISEASES inferred ¹⁵
20	UBE2T	Ubiquitin Conjugating Enzyme E2 T	Protein Coding	8.01	DISEASES inferred ¹⁵
21	BHLHE40	Basic Helix-Loop-Helix Family Member E40	Protein Coding	7.86	DISEASES inferred ¹⁵

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Variations for Fanconi Anemia, Complementation Group N

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

⁶ (show top 50) (show all 105) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PALB2	NM_024675.3(PALB2):c.106C>T (p.Gln36Ter)	SNV	Pathogenic	402288	rs757369748	16:23649393-23649393	16:23638072-23638072
2	PALB2	NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs)	deletion	Pathogenic	830202		16:23619237-23619241	16:23607916-23607920
3	PALB2	NC_000016.10:g.(23614092_23621361)_(23641357_?)del	deletion	Pathogenic	830081		16:23625413-23652678
4	PALB2	NC_000016.10:g.(23626398_23629203)_(23638130_23641109)del	deletion	Pathogenic	830085		16:23637719-23652430
5	PALB2	PALB2:c.49-?_2586+?del	deletion	Pathogenic	1244
6	PALB2	NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter)	SNV	Pathogenic	1246	rs118203999	16:23634324-23634324	16:23623003-23623003
7	PALB2	NM_024675.3(PALB2):c.1676_1677delinsG (p.Gln559fs)	indel	Pathogenic	126614	rs515726073	16:23646190-23646191	16:23634869-23634870
8	PALB2	NM_024675.4(PALB2):c.2393_2394insCT (p.Thr799fs)	insertion	Pathogenic	126651	rs180177113	16:23641081-23641082	16:23629760-23629761
9	PALB2	NM_024675.3(PALB2):c.3323del (p.Tyr1108fs)	deletion	Pathogenic	126734	rs180177135	16:23619212-23619212	16:23607891-23607891
10	PALB2	NM_024675.3(PALB2):c.395del (p.Val132fs)	deletion	Pathogenic	126748	rs180177085	16:23647472-23647472	16:23636151-23636151
11	PALB2	NM_024675.4(PALB2):c.755_756CT[1] (p.Leu253fs)	short repeat	Pathogenic	126768	rs180177092	16:23647109-23647110	16:23635788-23635789
12	PALB2	NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)	SNV	Pathogenic	128117	rs180177100	16:23646627-23646627	16:23635306-23635306
13	PALB2	NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter)	SNV	Pathogenic	128144	rs118203998	16:23614792-23614792	16:23603471-23603471
14	PALB2	NM_024675.3(PALB2):c.2834+1G>T	SNV	Pathogenic/Likely pathogenic	143968	rs587776419	16:23635329-23635329	16:23624008-23624008
15	PALB2	NM_024675.3(PALB2):c.3116del (p.Asn1039fs)	deletion	Pathogenic/Likely pathogenic	126715	rs180177133	16:23625410-23625410	16:23614089-23614089
16	PALB2	NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter)	SNV	Pathogenic/Likely pathogenic	1245	rs118203998	16:23614792-23614792	16:23603471-23603471
17	PALB2	NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter)	SNV	Pathogenic/Likely pathogenic	1243	rs118203997	16:23646214-23646214	16:23634893-23634893
18	PALB2	NM_024675.3(PALB2):c.2996+14T>G	SNV	Conflicting interpretations of pathogenicity	492207	rs1407045774	16:23634276-23634276	16:23622955-23622955
19	PALB2	NM_024675.4(PALB2):c.388C>T (p.His130Tyr)	SNV	Conflicting interpretations of pathogenicity	824342		16:23647479-23647479	16:23636158-23636158
20	PALB2	NM_024675.3(PALB2):c.828C>T (p.His276=)	SNV	Conflicting interpretations of pathogenicity	461024	rs911713488	16:23647039-23647039	16:23635718-23635718
21	PALB2	NM_024675.3(PALB2):c.718C>A (p.Pro240Thr)	SNV	Conflicting interpretations of pathogenicity	461019	rs757567654	16:23647149-23647149	16:23635828-23635828
22	PALB2	NM_024675.3(PALB2):c.3394T>C (p.Leu1132=)	SNV	Conflicting interpretations of pathogenicity	460993	rs1282821765	16:23614947-23614947	16:23603626-23603626
23	PALB2	NM_024675.3(PALB2):c.2586+10A>G	SNV	Conflicting interpretations of pathogenicity	126661	rs373321719	16:23640515-23640515	16:23629194-23629194
24	PALB2	NM_024675.3(PALB2):c.2674G>A (p.Glu892Lys)	SNV	Conflicting interpretations of pathogenicity	126672	rs45476495	16:23637631-23637631	16:23626310-23626310
25	PALB2	NM_024675.3(PALB2):c.2773G>C (p.Val925Leu)	SNV	Conflicting interpretations of pathogenicity	126681		16:23635391-23635391	16:23624070-23624070
26	PALB2	NM_024675.3(PALB2):c.1000T>G (p.Tyr334Asp)	SNV	Conflicting interpretations of pathogenicity	126580		16:23646867-23646867	16:23635546-23635546
27	PALB2	NM_024675.3(PALB2):c.1010T>C (p.Leu337Ser)	SNV	Conflicting interpretations of pathogenicity	126582	rs45494092	16:23646857-23646857	16:23635536-23635536
28	PALB2	NM_024675.3(PALB2):c.-158G>C	SNV	Conflicting interpretations of pathogenicity	126571		16:23652636-23652636	16:23641315-23641315
29	PALB2	NM_024675.3(PALB2):c.11C>T (p.Pro4Leu)	SNV	Conflicting interpretations of pathogenicity	126593	rs45619737	16:23652468-23652468	16:23641147-23641147
30	PALB2	NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu)	SNV	Conflicting interpretations of pathogenicity	126727	rs62625271	16:23619284-23619284	16:23607963-23607963
31	PALB2	NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)	SNV	Conflicting interpretations of pathogenicity	126740	rs62625284	16:23614913-23614913	16:23603592-23603592
32	PALB2	NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)	SNV	Conflicting interpretations of pathogenicity	126683	rs45478192	16:23635348-23635348	16:23624027-23624027
33	PALB2	NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro)	SNV	Conflicting interpretations of pathogenicity	126691	rs149522412	16:23634435-23634435	16:23623114-23623114
34	PALB2	NM_024675.3(PALB2):c.298C>T (p.Leu100Phe)	SNV	Conflicting interpretations of pathogenicity	126698	rs61756147	16:23647569-23647569	16:23636248-23636248
35	PALB2	NM_024675.3(PALB2):c.897T>C (p.Ser299=)	SNV	Conflicting interpretations of pathogenicity	126776		16:23646970-23646970	16:23635649-23635649
36	PALB2	NM_024675.3(PALB2):c.53A>G (p.Lys18Arg)	SNV	Conflicting interpretations of pathogenicity	126758	rs138789658	16:23649446-23649446	16:23638125-23638125
37	PALB2	NM_024675.3(PALB2):c.629C>T (p.Pro210Leu)	SNV	Conflicting interpretations of pathogenicity	126761	rs57605939	16:23647238-23647238	16:23635917-23635917
38	PALB2	NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp)	SNV	Conflicting interpretations of pathogenicity	126708	rs183489969	16:23632742-23632742	16:23621421-23621421
39	PALB2	NM_024675.3(PALB2):c.3495G>A (p.Ser1165=)	SNV	Conflicting interpretations of pathogenicity	126745	rs45439097	16:23614846-23614846	16:23603525-23603525
40	PALB2	NM_024675.3(PALB2):c.1610C>T (p.Ser537Leu)	SNV	Conflicting interpretations of pathogenicity	182791	rs142103232	16:23646257-23646257	16:23634936-23634936
41	PALB2	NM_024675.3(PALB2):c.1492G>T (p.Asp498Tyr)	SNV	Conflicting interpretations of pathogenicity	182790	rs75023630	16:23646375-23646375	16:23635054-23635054
42	PALB2	NM_024675.3(PALB2):c.1955G>A (p.Ser652Asn)	SNV	Conflicting interpretations of pathogenicity	141528	rs587781818	16:23641520-23641520	16:23630199-23630199
43	PALB2	NM_024675.3(PALB2):c.1756G>A (p.Asp586Asn)	SNV	Conflicting interpretations of pathogenicity	141709	rs587781954	16:23641719-23641719	16:23630398-23630398
44	PALB2	NM_024675.3(PALB2):c.12T>C (p.Pro4=)	SNV	Conflicting interpretations of pathogenicity	136128	rs567706422	16:23652467-23652467	16:23641146-23641146
45	PALB2	NM_024675.3(PALB2):c.94C>G (p.Leu32Val)	SNV	Conflicting interpretations of pathogenicity	126781	rs151316635	16:23649405-23649405	16:23638084-23638084
46	PALB2	NM_024675.4(PALB2):c.2379C>T (p.Gly793=)	SNV	Conflicting interpretations of pathogenicity	128130	rs377626805	16:23641096-23641096	16:23629775-23629775
47	PALB2	NM_024675.3(PALB2):c.2509G>A (p.Glu837Lys)	SNV	Conflicting interpretations of pathogenicity	128133	rs587778587	16:23640966-23640966	16:23629645-23629645
48	PALB2	NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)	SNV	Conflicting interpretations of pathogenicity	187141	rs749494645	16:23646488-23646488	16:23635167-23635167
49	PALB2	NM_024675.3(PALB2):c.495C>T (p.Gly165=)	SNV	Conflicting interpretations of pathogenicity	186120	rs200937538	16:23647372-23647372	16:23636051-23636051
50	PALB2	NM_024675.3(PALB2):c.2277A>G (p.Gln759=)	SNV	Conflicting interpretations of pathogenicity	185872	rs786202524	16:23641198-23641198	16:23629877-23629877

Sources

Expression for Fanconi Anemia, Complementation Group N

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

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Pathways for Fanconi Anemia, Complementation Group N

Pathways related to Fanconi Anemia, Complementation Group N 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	UBE2T SLX4 RAD51C PALB2 FANCM FANCL
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	12.53	FANCG FANCF FANCE FANCD2 FANCC FANCA
3	DNA Damage ⁴	12.32	UBE2T FANCD2 FANCB FANCA BRIP1 BRCA2
4	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	12.13	SLX4 RAD51C PALB2 BRIP1 BRCA2
5	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	11.98	SLX4 RAD51C PALB2 BRIP1 BRCA2
6	Fanconi anemia pathway ⁶⁵ ³⁶	11.88	UBE2T SLX4 RAD51C PALB2 FANCM FANCL
7	BRCA1 Pathway ⁶³ Show member pathways Fanconi's Anaemia Pathway ⁶³	11.78	FANCL FANCG FANCF FANCE FANCD2 FANCC
8	BARD1 signaling events ¹	11.16	FANCL FANCG FANCF FANCE FANCD2 FANCC

Sources

GO Terms for Fanconi Anemia, Complementation Group N

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

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	10.16	UBE2T SLX4 RAD51C PALB2 H2AC18 FANCM
2	nucleoplasm	GO:0005654	9.93	UBE2T SLX4 RAD51C PALB2 FANCM FANCL
3	Fanconi anaemia nuclear complex	GO:0043240	9.32	FANCM FANCL FANCG FANCF FANCE FANCC
4	Holliday junction resolvase complex	GO:0048476	9.26	SLX4 RAD51C

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

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	interstrand cross-link repair	GO:0036297	10	UBE2T SLX4 FANCM FANCL FANCI FANCG
2	cellular response to DNA damage stimulus	GO:0006974	9.93	UBE2T SLX4 RAD51C PALB2 FANCM FANCL
3	DNA recombination	GO:0006310	9.71	SLX4 RAD51C PALB2 BRCA2
4	DNA duplex unwinding	GO:0032508	9.69	FANCM ERCC6 BRIP1
5	double-strand break repair via homologous recombination	GO:0000724	9.62	SLX4 RAD51C PALB2 BRCA2
6	response to gamma radiation	GO:0010332	9.61	FANCD2 ERCC6 BRCA2
7	DNA repair	GO:0006281	9.6	UBE2T SLX4 RAD51C PALB2 FANCM FANCL
8	neuronal stem cell population maintenance	GO:0097150	9.58	FANCD2 FANCC
9	brain morphogenesis	GO:0048854	9.58	FANCD2 FANCC
10	response to X-ray	GO:0010165	9.57	ERCC6 BRCA2
11	resolution of meiotic recombination intermediates	GO:0000712	9.56	SLX4 FANCM
12	nucleotide-excision repair	GO:0006289	9.56	SLX4 FANCC BRIP1 BRCA2
13	regulation of regulatory T cell differentiation	GO:0045589	9.55	FANCD2 FANCA
14	inner cell mass cell proliferation	GO:0001833	9.54	PALB2 BRCA2
15	gamete generation	GO:0007276	9.54	FANCL FANCD2 FANCC
16	positive regulation of double-strand break repair via homologous recombination	GO:1905168	9.52	FANCB ERCC6
17	telomere maintenance via recombination	GO:0000722	9.49	RAD51C BRCA2
18	double-strand break repair involved in meiotic recombination	GO:1990918	9.48	FANCD2 BRIP1
19	regulation of CD40 signaling pathway	GO:2000348	9.46	FANCD2 FANCA

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	10.11	UBE2T SLX4 RAD51C PALB2 FANCM FANCL
2	chromatin binding	GO:0003682	9.65	UBE2T FANCM FAAP24 ERCC6 BRIP1
3	DNA polymerase binding	GO:0070182	9.37	FANCI FANCD2
4	four-way junction DNA binding	GO:0000400	9.32	RAD51C FANCM
5	DNA binding	GO:0003677	9.32	RAD51C PALB2 H2AC18 FANCM FANCI FAAP24
6	crossover junction endodeoxyribonuclease activity	GO:0008821	8.96	SLX4 RAD51C

Sources

Sources for Fanconi Anemia, Complementation Group N

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Fanconi Anemia, Complementation Group N (FANCN)

Aliases & Classifications for Fanconi Anemia, Complementation Group N

MalaCards integrated aliases for Fanconi Anemia, Complementation Group N:

Characteristics:

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Summaries for Fanconi Anemia, Complementation Group N

Related Diseases for Fanconi Anemia, Complementation Group N

Diseases in the Fanconi Anemia, Complementation Group C family:

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

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

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group N

Human phenotypes related to Fanconi Anemia, Complementation Group N:

Clinical features from OMIM:

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

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

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Variations for Fanconi Anemia, Complementation Group N

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

Expression for Fanconi Anemia, Complementation Group N

Pathways for Fanconi Anemia, Complementation Group N

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

GO Terms for Fanconi Anemia, Complementation Group N

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

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

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

Sources for Fanconi Anemia, Complementation Group N