FANCD1
MCID: FNC024
MIFTS: 48

Fanconi Anemia, Complementation Group D1 (FANCD1)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group D1

MalaCards integrated aliases for Fanconi Anemia, Complementation Group D1:

Name: Fanconi Anemia, Complementation Group D1 57 29 13 6 40
Fanconi Anemia Complementation Group D1 12 74 15
Fancd1 57 12 74
Fad1 57 12 74
Inherited Cancer-Predisposing Syndrome Due to Biallelic Brca2 Mutations 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
extreme sensitivity to chemotherapy


HPO:

32
fanconi anemia, complementation group d1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:0111089
MeSH 44 D005199
Orphanet 59 ORPHA319462
MedGen 42 C1838457

Summaries for Fanconi Anemia, Complementation Group D1

OMIM : 57 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. (605724)

MalaCards based summary : Fanconi Anemia, Complementation Group D1, also known as fanconi anemia complementation group d1, is related to fanconi anemia, complementation group e and deficiency anemia. An important gene associated with Fanconi Anemia, Complementation Group D1 is BRCA2 (BRCA2 DNA Repair Associated), 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 failure to thrive and microcephaly

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13.

UniProtKB/Swiss-Prot : 74 Fanconi anemia complementation group D1: 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.

Related Diseases for Fanconi Anemia, Complementation Group D1

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 D1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group e 28.9 FANCG FANCF FANCE FANCD2 FANCC FANCA
2 deficiency anemia 28.6 FANCG FANCD2 FANCC FANCA
3 fanconi anemia, complementation group a 26.0 FANCG FANCF FANCE FANCD2 FANCC FANCB
4 candida glabrata 10.3
5 leukemia, acute myeloid 10.2
6 leukemia 10.2
7 myeloid leukemia 10.2
8 medulloblastoma 10.2
9 wilms tumor 5 10.2
10 autosomal recessive disease 10.2
11 pancytopenia 10.2
12 microcephaly 10.2
13 fanconi anemia, complementation group v 10.0 FANCD2 FANCA
14 fanconi anemia, complementation group d2 9.9 FANCD2 FANCA BRCA2
15 fanconi anemia, complementation group r 9.8 FANCE FANCD2
16 sporadic breast cancer 9.8 FANCD2 BRCA2
17 isolated tracheoesophageal fistula 9.7 FANCC BRCA2
18 tracheoesophageal fistula with or without esophageal atresia 9.7 FANCC BRCA2
19 fanconi anemia, complementation group t 9.7 FANCE FANCD2 FANCA
20 fanconi anemia, complementation group j 9.4 FANCD2 FANCC FANCA
21 fanconi anemia, complementation group q 9.4 FANCE FANCD2 FANCA BRCA2
22 tracheoesophageal fistula 9.4 FANCC FANCA BRCA2
23 squamous cell carcinoma, head and neck 8.7 FANCF FANCE FANCC FANCA
24 fanconi anemia, complementation group f 8.1 FANCG FANCF FANCD2 FANCC FANCA BRCA2
25 congenital hypoplastic anemia 7.6 FANCG FANCF FANCE FANCD2 FANCC FANCA
26 fanconi anemia, complementation group b 7.5 FANCG FANCF FANCE FANCD2 FANCC FANCB

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group D1:



Diseases related to Fanconi Anemia, Complementation Group D1

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group D1

Human phenotypes related to Fanconi Anemia, Complementation Group D1:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 very rare (1%) HP:0001508
2 microcephaly 32 very rare (1%) HP:0000252
3 acute myeloid leukemia 32 very rare (1%) HP:0004808
4 intrauterine growth retardation 32 very rare (1%) HP:0001511
5 anal atresia 32 very rare (1%) HP:0002023
6 short thumb 32 very rare (1%) HP:0009778
7 cafe-au-lait spot 32 very rare (1%) HP:0000957
8 t-cell acute lymphoblastic leukemias 32 very rare (1%) HP:0006727
9 short stature 32 HP:0004322
10 bone marrow hypocellularity 32 HP:0005528
11 chromosomal breakage induced by crosslinking agents 32 HP:0003221

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
intrauterine growth retardation

Growth Height:
short stature

Skeletal Hands:
hypoplastic thumbs
abnormal thumbs

Skin Nails Hair Skin:
cafe au lait spots

Cardiovascular Heart:
cardiac defects (in some patients)

Neoplasia:
increased susceptibility to leukemia
increased susceptibility to solid cancers

Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
imperforate anus

Hematology:
bone marrow failure

Laboratory Abnormalities:
multiple chromosomal breaks
chromosomal breakage induced by diepoxybutane (deb), and mitomycin c

Head And Neck Face:
dysmorphic facial features, nonspecific (in some patients)

Clinical features from OMIM:

605724

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group D1 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 9.5 BRCA2 FANCA FANCC FANCD2 FANCE FANCF
2 Effect on mitosis GR00257-A-2 9.33 BRCA2 FANCC FANCE
3 Synthetic lethal with Ras GR00018-A-0 8.92 BRCA2 FANCA FANCC FANCD2

MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group D1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 BRCA2 FANCA FANCB FANCC FANCD2 FANCF
2 endocrine/exocrine gland MP:0005379 9.7 BRCA2 FANCA FANCB FANCC FANCD2 FANCF
3 neoplasm MP:0002006 9.26 BRCA2 FANCA FANCD2 FANCF
4 reproductive system MP:0005389 9.17 BRCA2 FANCA FANCB FANCC FANCD2 FANCF

Drugs & Therapeutics for Fanconi Anemia, Complementation Group D1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fatty Acid Desaturase Activity, Fish Oil and Colorectal Cancer Prevention Completed NCT01661764 Phase 2 Eicosapentanoic acid and docosahexanoic acid;Oleic Acid

Search NIH Clinical Center for Fanconi Anemia, Complementation Group D1

Genetic Tests for Fanconi Anemia, Complementation Group D1

Genetic tests related to Fanconi Anemia, Complementation Group D1:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group D1 29 BRCA2

Anatomical Context for Fanconi Anemia, Complementation Group D1

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group D1:

41
Bone, Bone Marrow, Breast, Myeloid, T Cells, Brain, Kidney

Publications for Fanconi Anemia, Complementation Group D1

Articles related to Fanconi Anemia, Complementation Group D1:

(show top 50) (show all 126)
# Title Authors PMID Year
1
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 38 8 71
16825431 2007
2
Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. 38 8 71
15070707 2004
3
Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 38 8 71
14670928 2004
4
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. 8 71
15689453 2005
5
Biallelic inactivation of BRCA2 in Fanconi anemia. 8 71
12065746 2002
6
A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations. 38 71
15645491 2005
7
Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. 38 71
14559878 2003
8
A 20-year perspective on the International Fanconi Anemia Registry (IFAR). 38 8
12393516 2003
9
Positional cloning of a novel Fanconi anemia gene, FANCD2. 38 8
11239453 2001
10
Essential Role of BRCA2 in Ovarian Development and Function. 8
30207912 2018
11
Fanconi anemia: at the crossroads of DNA repair. 8
21568838 2011
12
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 71
19888064 2009
13
Esophageal Atresia/Tracheoesophageal Fistula Overview 71
20301753 2009
14
Carrier screening in individuals of Ashkenazi Jewish descent. 71
18197057 2008
15
Wilms Tumor Predisposition 71
20301471 2003
16
Fanconi Anemia 71
20301575 2002
17
Cancer risks in BRCA2 mutation carriers. 71
10433620 1999
18
Enhanced DNA repair and genomic stability identify a novel HIV-related diffuse large B-cell lymphoma signature. 38
31044434 2019
19
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility. 38
30540754 2018
20
Roles of Figla/figla in Juvenile Ovary Development and Follicle Formation During Zebrafish Gonadogenesis. 38
30184072 2018
21
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. 38
28837162 2018
22
Treatment With Azacitidine in the Context of Palliative Care for a Patient With Acute Myeloid Leukemia Complicating Fanconi Anemia With Biallelic FANCD1/BRCA 2 Mutations. 38
29389832 2018
23
PALB2 (partner and localizer of BRCA2). 38
31413733 2018
24
Fanconi anaemia and cancer: an intricate relationship. 38
29376519 2018
25
Systematic analysis of DNA crosslink repair pathways during development and aging in Caenorhabditis elegans. 38
28934497 2017
26
Recent insights into the molecular basis of Fanconi anemia: genes, modifiers, and drivers. 38
28631178 2017
27
The zebrafish kidney mutant zeppelin reveals that brca2/fancd1 is essential for pronephros development. 38
28579318 2017
28
CRISPR/Cas9-Mediated Correction of the FANCD1 Gene in Primary Patient Cells. 38
28613254 2017
29
Synchronous occurrence of acute lymphoblastic leukemia and wilms tumor in two patients: underlying etiology and combined treatment plan. 38
27862952 2017
30
BRCA2 functions: from DNA repair to replication fork stabilization. 38
27530658 2016
31
Elucidation of the Fanconi Anemia Protein Network in Meiosis and Its Function in the Regulation of Histone Modifications. 38
27760317 2016
32
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 38
27165003 2016
33
Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children. 38
26657402 2016
34
Fanconi anemia genes in lung adenocarcinoma- a pathway-wide study on cancer susceptibility. 38
26842001 2016
35
[Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene--Case Report]. 38
26691948 2016
36
Biallelic FANCD1/BRCA2 mutations predisposing to glioblastoma multiforme with multiple oncogenic amplifications. 38
26740091 2016
37
The Fanconi Anemia Pathway Protects Genome Integrity from R-loops. 38
26584049 2015
38
Preemptive Bone Marrow Transplantation for FANCD1/BRCA2. 38
26183081 2015
39
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. 38
26254775 2015
40
Fanconi anemia and solid malignancies in childhood: a national retrospective study. 38
25381700 2015
41
DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity. 38
25583207 2015
42
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. 38
25472942 2015
43
Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup. 38
26064523 2015
44
FANCD2, FANCJ and BRCA2 cooperate to promote replication fork recovery independently of the Fanconi Anemia core complex. 38
25659033 2015
45
[FANCD1 expression in acute myeloid leukemia]. 38
25641149 2015
46
An integrated in silico approach to analyze the involvement of single amino acid polymorphisms in FANCD1/BRCA2-PALB2 and FANCD1/BRCA2-RAD51 complex. 38
24817641 2014
47
Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. 38
24141787 2014
48
Fanconi anemia pathway defects in inherited and sporadic cancers. 38
26835350 2014
49
Fanconi anemia and the development of leukemia. 38
25455269 2014
50
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene. 38
24301060 2014

Variations for Fanconi Anemia, Complementation Group D1

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group D1:

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BRCA2 NM_000059.3(BRCA2): c.9693del (p.Leu3232fs) deletion Pathogenic 13:32972343-32972343 13:32398206-32398206
2 BRCA2 NM_000059.3(BRCA2): c.5946del (p.Ser1982fs) deletion Pathogenic rs80359550 13:32914438-32914438 13:32340301-32340301
3 BRCA2 NM_000059.3(BRCA2): c.8732C> A (p.Ala2911Glu) single nucleotide variant Pathogenic rs80359130 13:32950906-32950906 13:32376769-32376769
4 BRCA2 NM_000059.3(BRCA2): c.658_659del (p.Val220fs) deletion Pathogenic rs80359604 13:32903606-32903607 13:32329469-32329470
5 BRCA2 NM_000059.3(BRCA2): c.8219T> A (p.Leu2740Ter) single nucleotide variant Pathogenic rs80359070 13:32937558-32937558 13:32363421-32363421
6 BRCA2 NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter) single nucleotide variant Pathogenic rs80358695 13:32913140-32913140 13:32339003-32339003
7 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 13:32954222-32954222 13:32380085-32380085
8 BRCA2 NM_000059.3(BRCA2): c.6952C> T (p.Arg2318Ter) single nucleotide variant Pathogenic rs80358920 13:32920978-32920978 13:32346841-32346841
9 BRCA2 NM_000059.3(BRCA2): c.7007G> A (p.Arg2336His) single nucleotide variant Pathogenic rs28897743 13:32921033-32921033 13:32346896-32346896
10 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 13:32930609-32930609 13:32356472-32356472
11 BRCA2 NM_000059.3(BRCA2): c.631+2T> G single nucleotide variant Pathogenic rs81002899 13:32900752-32900752 13:32326615-32326615
12 BRCA2 NM_000059.3(BRCA2): c.4965C> G (p.Tyr1655Ter) single nucleotide variant Pathogenic rs80358721 13:32913457-32913457 13:32339320-32339320
13 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 13:32954050-32954050 13:32379913-32379913
14 BRCA2 NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter) single nucleotide variant Pathogenic rs80359200 13:32968863-32968863 13:32394726-32394726
15 BRCA2 NM_000059.3(BRCA2): c.100G> T (p.Glu34Ter) single nucleotide variant Pathogenic rs80358391 13:32893246-32893246 13:32319109-32319109
16 BRCA2 NM_000059.3(BRCA2): c.5791C> T (p.Gln1931Ter) single nucleotide variant Pathogenic rs80358807 13:32914283-32914283 13:32340146-32340146
17 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 13:32914349-32914349 13:32340212-32340212
18 BRCA2 NM_000059.3(BRCA2): c.7879A> T (p.Ile2627Phe) single nucleotide variant Pathogenic rs80359014 13:32936733-32936733 13:32362596-32362596
19 BRCA2 NM_000059.3(BRCA2): c.7988A> T (p.Glu2663Val) single nucleotide variant Pathogenic rs80359031 13:32937327-32937327 13:32363190-32363190
20 BRCA2 NM_000059.3(BRCA2): c.9672dup (p.Tyr3225fs) duplication Pathogenic rs80359773 13:32972322-32972322 13:32398185-32398185
21 BRCA2 NM_000059.3(BRCA2): c.7464_7465insTA (p.Asp2489Ter) insertion Pathogenic rs886038169 13:32930593-32930594 13:32356456-32356457
22 BRCA2 NM_000059.3(BRCA2): c.5453C> A (p.Ser1818Ter) single nucleotide variant Pathogenic 13:32913945-32913945 13:32339808-32339808
23 BRCA2 NM_000059.3(BRCA2): c.9382C> T (p.Arg3128Ter) single nucleotide variant Pathogenic rs80359212 13:32968951-32968951 13:32394814-32394814
24 BRCA2 NM_000059.3(BRCA2): c.92G> A (p.Trp31Ter) single nucleotide variant Pathogenic rs397508045 13:32893238-32893238 13:32319101-32319101
25 BRCA2 NM_000059.3(BRCA2): c.8167G> C (p.Asp2723His) single nucleotide variant Pathogenic rs41293511 13:32937506-32937506 13:32363369-32363369
26 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 13:32893291-32893291 13:32319154-32319154
27 BRCA2 NM_000059.3(BRCA2): c.1399A> T (p.Lys467Ter) single nucleotide variant Pathogenic rs80358427 13:32907014-32907014 13:32332877-32332877
28 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 13:32914174-32914174 13:32340037-32340037
29 BRCA2 NM_000059.3(BRCA2): c.5576_5579del (p.Ile1859fs) deletion Pathogenic rs80359520 13:32914068-32914071 13:32339931-32339934
30 BRCA2 NM_000059.3(BRCA2): c.4243G> T (p.Glu1415Ter) single nucleotide variant Pathogenic rs397507327 13:32912735-32912735 13:32338598-32338598
31 BRCA2 NM_000059.3(BRCA2): c.3109C> T (p.Gln1037Ter) single nucleotide variant Pathogenic rs80358557 13:32911601-32911601 13:32337464-32337464
32 BRCA2 NM_000059.3(BRCA2): c.7579del (p.Ala2526_Val2527insTer) deletion Pathogenic rs1555286294 13:32930708-32930708 13:32356571-32356571
33 BRCA2 NM_000059.3(BRCA2): c.6656C> G (p.Ser2219Ter) single nucleotide variant Pathogenic rs80358893 13:32915148-32915148 13:32341011-32341011
34 BRCA2 NM_000059.3(BRCA2): c.5609_5610delinsAG (p.Phe1870Ter) indel Pathogenic rs276174859 13:32914101-32914102 13:32339964-32339965
35 BRCA2 NM_000059.3(BRCA2): c.8488-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs397507404 13:32945092-32945092 13:32370955-32370955
36 BRCA2 NM_000059.3(BRCA2): c.631+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs81002897 13:32900751-32900751 13:32326614-32326614
37 BRCA2 NM_000059.3(BRCA2): c.7529T> C (p.Leu2510Pro) single nucleotide variant Likely pathogenic rs80358979 13:32930658-32930658 13:32356521-32356521
38 BRCA2 NM_000059.3(BRCA2): c.5962G> A (p.Val1988Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs28897739 13:32914454-32914454 13:32340317-32340317
39 BRCA2 NM_000059.3(BRCA2): c.7625C> T (p.Thr2542Met) single nucleotide variant Conflicting interpretations of pathogenicity rs80358989 13:32931886-32931886 13:32357749-32357749
40 BRCA2 NM_000059.3(BRCA2): c.4535G> A (p.Arg1512His) single nucleotide variant Conflicting interpretations of pathogenicity rs80358685 13:32913027-32913027 13:32338890-32338890
41 BRCA2 NM_000059.3(BRCA2): c.6877T> C (p.Phe2293Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs80358912 13:32918730-32918730 13:32344593-32344593
42 BRCA2 NM_000059.3(BRCA2): c.7051G> A (p.Ala2351Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs80358930 13:32929041-32929041 13:32354904-32354904
43 BRCA2 NM_000059.3(BRCA2): c.7447A> G (p.Ser2483Gly) single nucleotide variant Uncertain significance rs80358966 13:32930576-32930576 13:32356439-32356439
44 BRCA2 NM_000059.3(BRCA2): c.6148G> A (p.Val2050Ile) single nucleotide variant Uncertain significance rs80358854 13:32914640-32914640 13:32340503-32340503
45 BRCA2 NM_000059.3(BRCA2): c.2122T> A (p.Ser708Thr) single nucleotide variant Uncertain significance rs80358488 13:32910614-32910614 13:32336477-32336477
46 BRCA2 NM_000059.3(BRCA2): c.4478A> G (p.Glu1493Gly) single nucleotide variant Uncertain significance rs80358679 13:32912970-32912970 13:32338833-32338833
47 BRCA2 NM_000059.3(BRCA2): c.7628A> G (p.Tyr2543Cys) single nucleotide variant Uncertain significance rs431825354 13:32931889-32931889 13:32357752-32357752
48 BRCA2 NM_000059.3(BRCA2): c.1433C> A (p.Thr478Lys) single nucleotide variant Uncertain significance rs431825282 13:32907048-32907048 13:32332911-32332911
49 BRCA2 NM_000059.3(BRCA2): c.5747A> G (p.His1916Arg) single nucleotide variant Uncertain significance rs431825334 13:32914239-32914239 13:32340102-32340102
50 BRCA2 NM_000059.3(BRCA2): c.6626T> C (p.Ile2209Thr) single nucleotide variant Uncertain significance rs431825344 13:32915118-32915118 13:32340981-32340981

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group D1:

74
# Symbol AA change Variation ID SNP ID
1 BRCA2 p.Arg2336His VAR_032730 rs28897743
2 BRCA2 p.Leu2510Pro VAR_032732 rs80358979
3 BRCA2 p.Trp2626Cys VAR_032733 rs80359013

Expression for Fanconi Anemia, Complementation Group D1

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group D1.

Pathways for Fanconi Anemia, Complementation Group D1

GO Terms for Fanconi Anemia, Complementation Group D1

Cellular components related to Fanconi Anemia, Complementation Group D1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.76 FANCG FANCF FANCE FANCD2 FANCC FANCB
2 nucleoplasm GO:0005654 9.56 FANCG FANCF FANCE FANCD2 FANCC FANCB
3 Fanconi anaemia nuclear complex GO:0043240 9.1 FANCG FANCF FANCE FANCC FANCB FANCA

Biological processes related to Fanconi Anemia, Complementation Group D1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.76 FANCG FANCF FANCE FANCD2 FANCC FANCB
2 DNA repair GO:0006281 9.56 FANCG FANCF FANCE FANCD2 FANCC FANCB
3 cellular response to oxidative stress GO:0034599 9.55 FANCD2 FANCC
4 regulation of inflammatory response GO:0050727 9.54 FANCD2 FANCA
5 nucleotide-excision repair GO:0006289 9.52 FANCC BRCA2
6 response to gamma radiation GO:0010332 9.49 FANCD2 BRCA2
7 regulation of DNA-binding transcription factor activity GO:0051090 9.48 FANCD2 FANCA
8 female gonad development GO:0008585 9.46 FANCA BRCA2
9 neuronal stem cell population maintenance GO:0097150 9.43 FANCD2 FANCC
10 gamete generation GO:0007276 9.4 FANCD2 FANCC
11 brain morphogenesis GO:0048854 9.37 FANCD2 FANCC
12 regulation of regulatory T cell differentiation GO:0045589 9.32 FANCD2 FANCA
13 regulation of CD40 signaling pathway GO:2000348 9.26 FANCD2 FANCA
14 ovarian follicle development GO:0001541 9.21 FANCG
15 interstrand cross-link repair GO:0036297 9.17 FANCG FANCF FANCE FANCD2 FANCC FANCB

Sources for Fanconi Anemia, Complementation Group D1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
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