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

FANCN MCID: FNC023 MIFTS: 47	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

Sources

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 Nephrological diseases Bone diseases Skin diseases Immune 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

Sources

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, bone marrow 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.

Wikipedia : ⁷⁴ Partner and localizer of BRCA2, also known as PALB2 or FANCN, is a protein which in humans is encoded by... more...

Sources

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 all 46)

#	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	thrombophlebitis migrans	10.2	SLX4 FANCI FANCA
4	interstitial nephritis, karyomegalic	10.2	SLX4 FANCI FANCD2
5	fanconi anemia, complementation group i	10.1	H2AC18 FANCM FANCI FANCD2
6	vacterl association	10.1	FANCL FANCI FANCB
7	tumor predisposition syndrome	10.0	PALB2 BRCA2
8	xeroderma pigmentosum, complementation group f	10.0	SLX4 FANCM FANCD2 FAAP24
9	dysplastic nevus syndrome	10.0	PALB2 BRCA2
10	fallopian tube carcinoma	9.9	RAD51C PALB2 BRCA2
11	tracheoesophageal fistula with or without esophageal atresia	9.9	PALB2 FANCC BRCA2
12	bloom syndrome	9.9	FANCM FANCA BRCA2
13	cowden syndrome	9.9	RAD51C PALB2 BRCA2
14	peritoneum cancer	9.8	RAD51C BRCA2
15	familial ovarian cancer	9.8	BRIP1 BRCA2
16	li-fraumeni syndrome	9.8	RAD51C PALB2 H2AC18 BRCA2
17	ovarian disease	9.8	RAD51C PALB2 H2AC18 BRCA2
18	lynch syndrome	9.7	RAD51C PALB2 H2AC18 BRCA2
19	fanconi anemia, complementation group l	9.6	UBE2T FANCL FANCI FANCD2
20	sporadic breast cancer	9.5	RAD51C PALB2 FANCF FANCD2 BRCA2
21	fanconi anemia, complementation group c	9.5	FANCL FANCI FANCF FANCD2 FANCC FANCA
22	fanconi anemia, complementation group d2	9.4	H2AC18 FANCI FANCG FANCD2 FANCA BRCA2
23	fanconi anemia, complementation group e	9.3	FANCG FANCF FANCE FANCD2 FANCC FANCA
24	autosomal genetic disease	9.3	H2AC18 BRCA2 BHLHE40
25	esophageal atresia/tracheoesophageal fistula	9.3	FANCC FANCB FANCA BRIP1 BRCA2
26	seckel syndrome	9.2	H2AC18 FANCM FANCI FANCE FANCD2 FANCA
27	leukemia, acute myeloid	9.1	H2AC18 FANCC FANCA BRCA2 BHLHE40
28	esophageal atresia	9.1	SLX4 FANCM FANCL FANCI FANCE FANCD2
29	aplastic anemia	8.9	H2AC18 FANCM FANCI FANCG FANCD2 FANCC
30	fanconi anemia, complementation group b	8.9	FANCL FANCG FANCF FANCE FANCD2 FANCC
31	hereditary breast ovarian cancer syndrome	8.9	RAD51C PALB2 FANCG FANCC BRIP1 BRCA2
32	squamous cell carcinoma, head and neck	8.9	H2AC18 FANCL FANCG FANCF FANCE FANCD2
33	fanconi anemia, complementation group f	8.8	H2AC18 FANCG FANCF FANCE FANCD2 FANCC
34	xeroderma pigmentosum, variant type	8.5	SLX4 H2AC18 FANCM FANCI FANCG FANCD2
35	fanconi anemia, complementation group u	8.2	UBE2T SLX4 RAD51C FANCM FANCL FANCI
36	deficiency anemia	8.1	H2AC18 FANCG FANCF FANCE FANCD2 FANCC
37	fanconi anemia, complementation group v	7.8	UBE2T SLX4 FANCM FANCL FANCI FANCE
38	fanconi anemia, complementation group r	7.7	UBE2T SLX4 RAD51C PALB2 FANCM FANCL
39	fanconi anemia, complementation group t	7.4	UBE2T SLX4 H2AC18 FANCM FANCL FANCI
40	fanconi anemia, complementation group p	7.4	SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
41	fanconi anemia, complementation group q	7.2	UBE2T SLX4 RAD51C PALB2 FANCM FANCL
42	fanconi anemia, complementation group o	7.1	SLX4 RAD51C PALB2 FANCM FANCL FANCI
43	fanconi anemia, complementation group j	6.5	SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
44	congenital hypoplastic anemia	5.5	UBE2T SLX4 RAD51C PALB2 H2AC18 FANCM
45	fanconi anemia, complementation group d1	5.5	UBE2T SLX4 RAD51C PALB2 H2AC18 FANCM
46	fanconi anemia, complementation group a	5.5	UBE2T SLX4 RAD51C PALB2 H2AC18 FANCM

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

Sources

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	cafe-au-lait spot ³¹		HP:0000957
6	ventricular septal defect ³¹		HP:0001629
7	microcephaly ³¹		HP:0000252
8	aplastic anemia ³¹		HP:0001915
9	epicanthus ³¹		HP:0000286
10	postnatal growth retardation ³¹		HP:0008897
11	short thumb ³¹		HP:0009778
12	medulloblastoma ³¹		HP:0002885
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	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.86	BRCA2 BRIP1 FAAP100 FAAP24 FANCA FANCC
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.72	BRCA2 FANCA FANCD2 FANCM PALB2 UBE2T
3	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.72	BRCA2 FANCA FANCD2 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	10.07	BRCA2 BRIP1 FANCA FANCB FANCC FANCD2
2	endocrine/exocrine gland	MP:0005379	10	BHLHE40 BRCA2 BRIP1 FANCA FANCB FANCC
3	neoplasm	MP:0002006	9.5	BRCA2 BRIP1 FANCA FANCD2 FANCF FANCM
4	reproductive system	MP:0005389	9.44	BRCA2 BRIP1 FANCA FANCB FANCC FANCD2

Sources

Drugs & Therapeutics for Fanconi Anemia, Complementation Group N

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

Sources

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

Sources

Anatomical Context for Fanconi Anemia, Complementation Group N

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

⁴⁰

Bone, Bone Marrow, Breast, Testes, T Cells, Skin, Myeloid

Sources

Publications for Fanconi Anemia, Complementation Group N

Articles related to Fanconi Anemia, Complementation Group N:

(show all 50)

#	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	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
10	PALB2 (partner and localizer of BRCA2). ⁶¹	Hanenberg H...Andreassen PR	31413733	2018
11	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
12	[PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic]. ⁶¹	Janatova M...Kleibl Z	26691940	2016
13	ATM-dependent Phosphorylation of the Fanconi Anemia Protein PALB2 Promotes the DNA Damage Response. ⁶¹	Guo Y...Huen MS	26420486	2015
14	Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. ⁶¹	Bogliolo M...Surralles J	26254775	2015
15	Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. ⁶¹	Sawyer SL...Greenberg RA	25472942	2015
16	Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup. ⁶¹	Miele E...Ferretti E	26064523	2015
17	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
18	Hypersensitivities for acetaldehyde and other agents among cancer cells null for clinically relevant Fanconi anemia genes. ⁶¹	Ghosh S...Kern SE	24200853	2014
19	Breast cancer genes: beyond BRCA1 and BRCA2. ⁶¹	Filippini SE...Vega A	23747889	2013
20	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
21	No evidence for PALB2 methylation in high-grade serous ovarian cancer. ⁶¹	Mikeska T...Dobrovic A	23587053	2013
22	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
23	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
24	Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma. ⁶¹	Smetsers S...Meyer S	22829014	2012
25	PALB2 interacts with KEAP1 to promote NRF2 nuclear accumulation and function. ⁶¹	Ma J...Xia B	22331464	2012
26	Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes. ⁶¹	Rebbeck TR...Nathanson KL	21799032	2011
27	Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinoma. ⁶¹	Szaumkessel M...Siebert R	21567085	2011
28	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
29	PALB2/FANCN: recombining cancer and Fanconi anemia. ⁶¹	Tischkowitz M...Xia B	20858716	2010
30	Fanconi anemia gene mutations are not involved in sporadic Wilms tumor. ⁶¹	Adank MA...van den Heuvel-Eibrink MM	20589654	2010
31	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
32	The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. ⁶¹	Barroso E...Ribas G	19536649	2009
33	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
34	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
35	Recruitment of fanconi anemia and breast cancer proteins to DNA damage sites is differentially governed by replication. ⁶¹	Shen X...Li L	19748364	2009
36	The Fanconi anemia/BRCA gene network in zebrafish: embryonic expression and comparative genomics. ⁶¹	Titus TA...Postlethwait JH	19101574	2009
37	FANCM-FAAP24 and FANCJ: FA proteins that metabolize DNA. ⁶¹	Ali AM...Meetei AR	19379763	2009
38	Cellular and molecular consequences of defective Fanconi anemia proteins in replication-coupled DNA repair: mechanistic insights. ⁶¹	Thompson LH...Hinz JM	19622404	2009
39	PALB2 links BRCA1 and BRCA2 in the DNA-damage response. ⁶¹	Zhang F...Yu X	19268590	2009
40	A possible approach for stem cell gene therapy of Fanconi anemia. ⁶¹	Song L	19275569	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	Defects of FA/BRCA pathway in lymphoma cell lines. ⁶¹	Xiao H...Xia B	19011769	2008
43	[Search for Fanconi anemia/BRCA pathway defects in lymphoma cell lines]. ⁶¹	Xiao H...Xia B	18841560	2008
44	[A role for PALB2/FANCN in breast cancer predisposition?]. ⁶¹	Hamel N...Foulkes WD	18272064	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	The Fanconi anaemia/BRCA pathway and cancer susceptibility. Searching for new therapeutic targets. ⁶¹	Garcia MJ...Benitez J	18258506	2008
47	Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families. ⁶¹	Guenard F...INHERIT BRCAs	18414782	2008
48	The Fanconi anemia pathway and ubiquitin. ⁶¹	Jacquemont C...Taniguchi T	18047734	2007
49	Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. ⁶¹	Wang W	17768402	2007
50	Analysis of PALB2/FANCN-associated breast cancer families. ⁶¹	Tischkowitz M...Foulkes WD	17420451	2007

Sources

Genes for Fanconi Anemia, Complementation Group N

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

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PALB2	Partner And Localizer Of BRCA2	Protein Coding	1039.84	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	20301753 20301575 18197057 (more) 17200671 19888064 17200668 17200672
2	H2AC18	H2A Clustered Histone 18	Protein Coding	9.74	DISEASES inferred ¹⁵ ¹⁵
3	FANCI	FA Complementation Group I	Protein Coding	9.28	DISEASES inferred ¹⁵
4	FANCD2	FA Complementation Group D2	Protein Coding	8.95	DISEASES inferred ¹⁵
5	FANCM	FA Complementation Group M	Protein Coding	8.95	DISEASES inferred ¹⁵
6	FANCA	FA Complementation Group A	Protein Coding	8.93	DISEASES inferred ¹⁵
7	FANCE	FA Complementation Group E	Protein Coding	8.86	DISEASES inferred ¹⁵
8	SLX4	SLX4 Structure-Specific Endonuclease Subunit	Protein Coding	8.82	DISEASES inferred ¹⁵
9	FANCB	FA Complementation Group B	Protein Coding	8.8	DISEASES inferred ¹⁵
10	RAD51C	RAD51 Paralog C	Protein Coding	8.8	DISEASES inferred ¹⁵
11	FAAP24	FA Core Complex Associated Protein 24	Protein Coding	8.79	DISEASES inferred ¹⁵
12	FANCL	FA Complementation Group L	Protein Coding	8.75	DISEASES inferred ¹⁵
13	FAAP100	FA Core Complex Associated Protein 100	Protein Coding	8.7	DISEASES inferred ¹⁵
14	FANCC	FA Complementation Group C	Protein Coding	8.59	DISEASES inferred ¹⁵
15	FANCF	FA Complementation Group F	Protein Coding	8.59	DISEASES inferred ¹⁵
16	FANCG	FA Complementation Group G	Protein Coding	8.57	DISEASES inferred ¹⁵
17	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	8.37	DISEASES inferred ¹⁵
18	BRIP1	BRCA1 Interacting Protein C-Terminal Helicase 1	Protein Coding	8.2	DISEASES inferred ¹⁵
19	UBE2T	Ubiquitin Conjugating Enzyme E2 T	Protein Coding	7.97	DISEASES inferred ¹⁵
20	BHLHE40	Basic Helix-Loop-Helix Family Member E40	Protein Coding	7.84	DISEASES inferred ¹⁵

Sources

Variations for Fanconi Anemia, Complementation Group N

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

⁶ (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PALB2	PALB2:c.49-?_2586+?del	deletion	Pathogenic	1244
2	PALB2	NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter)	SNV	Pathogenic	1246	rs118203999	16:23634324-23634324	16:23623003-23623003
3	PALB2	NM_024675.3(PALB2):c.1676_1677delinsG (p.Gln559fs)	indel	Pathogenic	126614	rs515726073	16:23646190-23646191	16:23634869-23634870
4	PALB2	NM_024675.3(PALB2):c.2393_2394insCT (p.Thr799fs)	insertion	Pathogenic	126651	rs180177113	16:23641081-23641082	16:23629760-23629761
5	PALB2	NM_024675.3(PALB2):c.2521del (p.Thr841fs)	deletion	Pathogenic	126659	rs180177116	16:23640590-23640590	16:23629269-23629269
6	PALB2	NM_024675.3(PALB2):c.3323del (p.Tyr1108fs)	deletion	Pathogenic	126734	rs180177135	16:23619212-23619212	16:23607891-23607891
7	PALB2	NM_024675.3(PALB2):c.395del (p.Val132fs)	deletion	Pathogenic	126748	rs180177085	16:23647472-23647472	16:23636151-23636151
8	PALB2	NM_024675.3(PALB2):c.757_758delCT	short repeat	Pathogenic	126768	rs180177092	16:23647109-23647110	16:23635788-23635789
9	PALB2	NM_024675.3(PALB2):c.1240C>T (p.Arg414Ter)	SNV	Pathogenic	128117	rs180177100	16:23646627-23646627	16:23635306-23635306
10	PALB2	NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter)	SNV	Pathogenic	128144	rs118203998	16:23614792-23614792	16:23603471-23603471
11	PALB2	NM_024675.3(PALB2):c.106C>T (p.Gln36Ter)	SNV	Pathogenic	402288	rs757369748	16:23649393-23649393	16:23638072-23638072
12	PALB2	NM_024675.3(PALB2):c.2834+1G>T	SNV	Pathogenic/Likely pathogenic	143968	rs587776419	16:23635329-23635329	16:23624008-23624008
13	PALB2	NM_024675.3(PALB2):c.3350+4A>G	SNV	Pathogenic/Likely pathogenic	126737	rs180177136	16:23619181-23619181	16:23607860-23607860
14	PALB2	NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter)	SNV	Pathogenic/Likely pathogenic	1243	rs118203997	16:23646214-23646214	16:23634893-23634893
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.3251C>T (p.Ser1084Leu)	SNV	Conflicting interpretations of pathogenicity	126727	rs62625271	16:23619284-23619284	16:23607963-23607963
18	PALB2	NM_024675.3(PALB2):c.11C>T (p.Pro4Leu)	SNV	Conflicting interpretations of pathogenicity	126593	rs45619737	16:23652468-23652468	16:23641147-23641147
19	PALB2	NM_024675.3(PALB2):c.2773G>C (p.Val925Leu)	SNV	Conflicting interpretations of pathogenicity	126681	rs180177125	16:23635391-23635391	16:23624070-23624070
20	PALB2	NM_024675.3(PALB2):c.3428T>A (p.Leu1143His)	SNV	Conflicting interpretations of pathogenicity	126740	rs62625284	16:23614913-23614913	16:23603592-23603592
21	PALB2	NM_024675.3(PALB2):c.1756G>A (p.Asp586Asn)	SNV	Conflicting interpretations of pathogenicity	141709	rs587781954	16:23641719-23641719	16:23630398-23630398
22	PALB2	NM_024675.3(PALB2):c.3307G>C (p.Val1103Leu)	SNV	Uncertain significance	141974	rs201657283	16:23619228-23619228	16:23607907-23607907
23	PALB2	NM_024675.3(PALB2):c.2473A>G (p.Arg825Gly)	SNV	Uncertain significance	402299	rs745747228	16:23641002-23641002	16:23629681-23629681
24	PALB2	NM_024675.3(PALB2):c.1759G>A (p.Ala587Thr)	SNV	Uncertain significance	410106	rs1060502733	16:23641716-23641716	16:23630395-23630395
25	PALB2	NM_024675.3(PALB2):c.2026A>C (p.Ile676Leu)	SNV	Uncertain significance	484244	rs761478794	16:23641449-23641449	16:23630128-23630128
26	PALB2	NM_024675.3(PALB2):c.1340C>A (p.Ala447Glu)	SNV	Uncertain significance	480285	rs1555461334	16:23646527-23646527	16:23635206-23635206
27	PALB2	NM_024675.3(PALB2):c.3428T>C (p.Leu1143Pro)	SNV	Uncertain significance	126741	rs62625284	16:23614913-23614913	16:23603592-23603592
28	PALB2	NM_024675.3(PALB2):c.1348A>C (p.Asn450His)	SNV	Uncertain significance	128119	rs62625274	16:23646519-23646519	16:23635198-23635198
29	PALB2	NM_024675.3(PALB2):c.2897T>C (p.Ile966Thr)	SNV	Uncertain significance	128136	rs587780214	16:23634389-23634389	16:23623068-23623068
30	PALB2	NM_024675.3(PALB2):c.2869A>C (p.Lys957Gln)	SNV	Uncertain significance	126694	rs515726103	16:23634417-23634417	16:23623096-23623096
31	PALB2	NM_024675.3(PALB2):c.-200-?_3113+?del	deletion	Uncertain significance	126574
32	PALB2	NM_024675.3(PALB2):c.968C>A (p.Ala323Glu)	SNV	Uncertain significance	182760	rs730881882	16:23646899-23646899	16:23635578-23635578
33	PALB2	NM_024675.3(PALB2):c.187C>T (p.Leu63Phe)	SNV	Uncertain significance	182780	rs730881899	16:23649195-23649195	16:23637874-23637874
34	PALB2	NM_024675.3(PALB2):c.1526G>A (p.Gly509Asp)	SNV	Uncertain significance	186732	rs786203176	16:23646341-23646341	16:23635020-23635020
35	PALB2	NM_024675.3(PALB2):c.1316G>T (p.Gly439Val)	SNV	Uncertain significance	188096	rs537258442	16:23646551-23646551	16:23635230-23635230
36	PALB2	NM_024675.3(PALB2):c.1115G>C (p.Ser372Thr)	SNV	Uncertain significance	188377	rs786204243	16:23646752-23646752	16:23635431-23635431
37	PALB2	NM_024675.3(PALB2):c.3247G>A (p.Glu1083Lys)	SNV	Uncertain significance	216753	rs747785029	16:23619288-23619288	16:23607967-23607967

Sources

Expression for Fanconi Anemia, Complementation Group N

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

Sources

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	12.58	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	12.47	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 ¹ Homologous recombination ³⁶ 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 ³⁶ ⁶⁵	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	9.91	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 16)

#	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	9.91	UBE2T SLX4 RAD51C PALB2 FANCM FANCL
3	DNA recombination	GO:0006310	9.71	SLX4 RAD51C PALB2 BRCA2
4	double-strand break repair via homologous recombination	GO:0000724	9.62	SLX4 RAD51C PALB2 BRCA2
5	DNA repair	GO:0006281	9.58	UBE2T SLX4 RAD51C PALB2 FANCM FANCL
6	female gonad development	GO:0008585	9.56	FANCA BRCA2
7	nucleotide-excision repair	GO:0006289	9.56	SLX4 FANCC BRIP1 BRCA2
8	male meiosis I	GO:0007141	9.55	RAD51C BRCA2
9	neuronal stem cell population maintenance	GO:0097150	9.54	FANCD2 FANCC
10	gamete generation	GO:0007276	9.54	FANCL FANCD2 FANCC
11	brain morphogenesis	GO:0048854	9.52	FANCD2 FANCC
12	resolution of meiotic recombination intermediates	GO:0000712	9.51	SLX4 FANCM
13	regulation of regulatory T cell differentiation	GO:0045589	9.49	FANCD2 FANCA
14	inner cell mass cell proliferation	GO:0001833	9.48	PALB2 BRCA2
15	telomere maintenance via recombination	GO:0000722	9.46	RAD51C BRCA2
16	regulation of CD40 signaling pathway	GO:2000348	9.43	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	9.91	UBE2T SLX4 RAD51C PALB2 FANCM FANCL
2	DNA binding	GO:0003677	9.32	RAD51C PALB2 H2AC18 FANCM FANCI FAAP24
3	DNA polymerase binding	GO:0070182	9.26	FANCI FANCD2
4	crossover junction endodeoxyribonuclease activity	GO:0008821	9.16	SLX4 RAD51C

Sources

Sources for Fanconi Anemia, Complementation Group N

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

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:

HPO:

Classifications:

External Ids:

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:

Drugs & Therapeutics for Fanconi Anemia, Complementation Group N

Genetic Tests for Fanconi Anemia, Complementation Group N

Genetic tests related to Fanconi Anemia, Complementation Group N:

Anatomical Context for Fanconi Anemia, Complementation Group N

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

Publications for Fanconi Anemia, Complementation Group N

Articles related to Fanconi Anemia, Complementation Group N:

Genes for Fanconi Anemia, Complementation Group N

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

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