FANCD1
MCID: FNC024
MIFTS: 52

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 56 29 13 6 39
Fanconi Anemia Complementation Group D1 12 73 15
Fancd1 56 12 73
Fad1 56 12 73
Inherited Cancer-Predisposing Syndrome Due to Biallelic Brca2 Mutations 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
fanconi anemia, complementation group d1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases


Summaries for Fanconi Anemia, Complementation Group D1

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. (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 leukemia, acute myeloid. An important gene associated with Fanconi Anemia, Complementation Group D1 is BRCA2 (BRCA2 DNA Repair Associated), and among its related pathways/superpathways are TCR Signaling (Qiagen) and DNA Double-Strand Break Repair. Affiliated tissues include bone, bone marrow and breast, and related phenotypes are failure to thrive and cafe-au-lait spot

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 : 73 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 top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group e 31.6 FANCG FANCF FANCE FANCD2 FANCC FANCA
2 leukemia, acute myeloid 29.4 RAD51 H2AC18 FANCC FANCA ERCC6 BRCA2
3 deficiency anemia 28.4 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
4 fanconi anemia, complementation group a 25.2 SLX4 RAD51C RAD51 PALB2 H2AC18 FANCM
5 maternal uniparental disomy 10.4 SLX4 FANCA
6 maternal uniparental disomy of chromosome 16 10.4 SLX4 FANCA
7 fanconi anemia, complementation group l 10.3 FANCL FANCI FANCD2
8 tracheoesophageal fistula with or without esophageal atresia 10.3 PALB2 FANCC BRCA2
9 candida glabrata 10.3
10 thrombophlebitis migrans 10.3 SLX4 FANCI FANCA
11 interstitial nephritis, karyomegalic 10.3 SLX4 FANCI FANCD2
12 fanconi anemia, complementation group i 10.2 H2AC18 FANCM FANCI FANCD2
13 vacterl association 10.2 FANCL FANCI FANCB
14 leukemia 10.2
15 myeloid leukemia 10.2
16 medulloblastoma 10.2
17 wilms tumor 5 10.2
18 autosomal recessive disease 10.2
19 microcephaly 10.2
20 pancytopenia 10.2
21 familial ovarian cancer 10.1 BRIP1 BRCA2
22 fallopian tube carcinoma 10.1 RAD51C PALB2 BRCA2
23 bilateral breast cancer 10.1 RAD51 PALB2 BRCA2
24 li-fraumeni syndrome 10.1 RAD51C PALB2 H2AC18 BRCA2
25 malignant ovarian surface epithelial-stromal neoplasm 10.0 H2AC18 ERCC6 BRCA2
26 bloom syndrome 10.0 RAD51 FANCM FANCA BRCA2
27 ovary epithelial cancer 10.0 H2AC18 ERCC6 BRCA2
28 xfe progeroid syndrome 10.0 SLX4 ERCC6
29 tumor predisposition syndrome 10.0 PALB2 BRCA2
30 ovarian disease 9.9 RAD51C PALB2 H2AC18 BRCA2
31 rothmund-thomson syndrome, type 2 9.9 RAD51 FANCM ERCC6
32 xeroderma pigmentosum, complementation group d 9.9 RAD51 H2AC18 ERCC6
33 dyskeratosis congenita 9.9 H2AC18 FANCB FANCA ERCC6
34 contractures, pterygia, and variable skeletal fusions syndrome 1a 9.8 H2AC18 ERCC6 BRCA2
35 autosomal recessive cerebellar ataxia 9.8 RAD51 H2AC18 ERCC6 BRCA2
36 cowden syndrome 9.8 RAD51C RAD51 PALB2 BRCA2
37 esophageal atresia/tracheoesophageal fistula 9.8 FANCC FANCB FANCA BRIP1 BRCA2
38 autosomal genetic disease 9.8 RAD51 H2AC18 ERCC6 BRCA2
39 fanconi anemia, complementation group c 9.8 FANCL FANCI FANCF FANCD2 FANCC FANCA
40 lynch syndrome 9.8 RAD51C PALB2 H2AC18 ERCC6 BRCA2
41 xeroderma pigmentosum, complementation group f 9.7 SLX4 FANCM FANCD2 FAAP24 ERCC6
42 fanconi anemia, complementation group d2 9.6 RAD51 H2AC18 FANCI FANCG FANCD2 FANCA
43 trichothiodystrophy 1, photosensitive 9.6 RAD51 H2AC18 ERCC6 BRIP1
44 sporadic breast cancer 9.5 RAD51C RAD51 PALB2 FANCF FANCD2 BRCA2
45 fanconi anemia, complementation group f 9.5 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
46 fanconi anemia, complementation group b 9.4 FANCL FANCG FANCF FANCE FANCD2 FANCC
47 esophageal atresia 9.3 SLX4 FANCM FANCL FANCI FANCE FANCD2
48 aplastic anemia 9.3 H2AC18 FANCM FANCI FANCG FANCD2 FANCC
49 hereditary breast ovarian cancer syndrome 9.1 RAD51C RAD51 PALB2 FANCG FANCC BRIP1
50 squamous cell carcinoma, head and neck 9.1 H2AC18 FANCL FANCG FANCF FANCE FANCD2

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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 cafe-au-lait spot 31 very rare (1%) HP:0000957
3 intrauterine growth retardation 31 very rare (1%) HP:0001511
4 microcephaly 31 very rare (1%) HP:0000252
5 acute myeloid leukemia 31 very rare (1%) HP:0004808
6 anal atresia 31 very rare (1%) HP:0002023
7 short thumb 31 very rare (1%) HP:0009778
8 t-cell acute lymphoblastic leukemias 31 very rare (1%) HP:0006727
9 short stature 31 HP:0004322
10 bone marrow hypocellularity 31 HP:0005528
11 chromosomal breakage induced by crosslinking agents 31 HP:0003221

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive
intrauterine growth retardation

Head And Neck Head:
microcephaly

Skeletal Hands:
hypoplastic thumbs
abnormal thumbs

Skin Nails Hair Skin:
cafe au lait spots

Cardiovascular Heart:
cardiac defects (in some patients)

Genitourinary Internal Genitalia Female:
primary ovarian dysgenesis

Growth Height:
short stature

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)

Neoplasia:
increased susceptibility to leukemia
increased susceptibility to solid cancers

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 10.09 BRCA2 BRIP1 ERCC6 FAAP100 FAAP24 FANCA
2 Decreased homologous recombination repair frequency GR00151-A-1 9.8 RAD51
3 Decreased homologous recombination repair frequency GR00151-A-2 9.8 RAD51
4 Decreased homologous recombination repair frequency GR00236-A-3 9.8 BRCA2 FANCA PALB2 RAD51
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.74 BRCA2 ERCC6 FANCA FANCD2 FANCM PALB2
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.74 BRCA2 ERCC6 FANCA FANCD2 FANCM PALB2
7 Decreased viability with cisplatin GR00101-A-4 9.43 BRCA2 BRIP1 RAD51
8 Synthetic lethal with cisplatin GR00101-A-1 9.13 BRCA2 BRIP1 RAD51

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.2 BRCA2 BRIP1 ERCC6 FANCA FANCB FANCC
2 endocrine/exocrine gland MP:0005379 10.07 BRCA2 BRIP1 FANCA FANCB FANCC FANCD2
3 growth/size/body region MP:0005378 9.93 BRCA2 ERCC6 FANCA FANCB FANCD2 FANCE
4 neoplasm MP:0002006 9.56 BRCA2 BRIP1 ERCC6 FANCA FANCD2 FANCF
5 reproductive system MP:0005389 9.44 BRCA2 BRIP1 FANCA FANCB FANCC FANCD2

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:

40
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 128)
# Title Authors PMID Year
1
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 61 56 6
16825431 2007
2
Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. 61 56 6
15070707 2004
3
Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 61 56 6
14670928 2004
4
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. 56 6
15689453 2005
5
Biallelic inactivation of BRCA2 in Fanconi anemia. 56 6
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. 61 6
15645491 2005
7
Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. 61 6
14559878 2003
8
A 20-year perspective on the International Fanconi Anemia Registry (IFAR). 61 56
12393516 2003
9
Positional cloning of a novel Fanconi anemia gene, FANCD2. 61 56
11239453 2001
10
Essential Role of BRCA2 in Ovarian Development and Function. 56
30207912 2018
11
Fanconi anemia: at the crossroads of DNA repair. 56
21568838 2011
12
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
13
Esophageal Atresia/Tracheoesophageal Fistula Overview 6
20301753 2009
14
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
15
Wilms Tumor Predisposition 6
20301471 2003
16
Fanconi Anemia 6
20301575 2002
17
Cancer risks in BRCA2 mutation carriers. 6
10433620 1999
18
Enhanced DNA repair and genomic stability identify a novel HIV-related diffuse large B-cell lymphoma signature. 61
31044434 2019
19
Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population. 61
31558676 2019
20
Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia. 61
31721781 2019
21
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility. 61
30540754 2018
22
Roles of Figla/figla in Juvenile Ovary Development and Follicle Formation During Zebrafish Gonadogenesis. 61
30184072 2018
23
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. 61
28837162 2018
24
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. 61
29389832 2018
25
PALB2 (partner and localizer of BRCA2). 61
31413733 2018
26
Fanconi anaemia and cancer: an intricate relationship. 61
29376519 2018
27
Systematic analysis of DNA crosslink repair pathways during development and aging in Caenorhabditis elegans. 61
28934497 2017
28
Recent insights into the molecular basis of Fanconi anemia: genes, modifiers, and drivers. 61
28631178 2017
29
The zebrafish kidney mutant zeppelin reveals that brca2/fancd1 is essential for pronephros development. 61
28579318 2017
30
CRISPR/Cas9-Mediated Correction of the FANCD1 Gene in Primary Patient Cells. 61
28613254 2017
31
Synchronous occurrence of acute lymphoblastic leukemia and wilms tumor in two patients: underlying etiology and combined treatment plan. 61
27862952 2017
32
BRCA2 functions: from DNA repair to replication fork stabilization. 61
27530658 2016
33
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 61
27165003 2016
34
Elucidation of the Fanconi Anemia Protein Network in Meiosis and Its Function in the Regulation of Histone Modifications. 61
27760317 2016
35
Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children. 61
26657402 2016
36
Fanconi anemia genes in lung adenocarcinoma- a pathway-wide study on cancer susceptibility. 61
26842001 2016
37
[Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene--Case Report]. 61
26691948 2016
38
Biallelic FANCD1/BRCA2 mutations predisposing to glioblastoma multiforme with multiple oncogenic amplifications. 61
26740091 2016
39
The Fanconi Anemia Pathway Protects Genome Integrity from R-loops. 61
26584049 2015
40
Preemptive Bone Marrow Transplantation for FANCD1/BRCA2. 61
26183081 2015
41
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. 61
26254775 2015
42
Fanconi anemia and solid malignancies in childhood: a national retrospective study. 61
25381700 2015
43
DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity. 61
25583207 2015
44
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. 61
25472942 2015
45
FANCD2, FANCJ and BRCA2 cooperate to promote replication fork recovery independently of the Fanconi Anemia core complex. 61
25659033 2015
46
Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup. 61
26064523 2015
47
[FANCD1 expression in acute myeloid leukemia]. 61
25641149 2015
48
An integrated in silico approach to analyze the involvement of single amino acid polymorphisms in FANCD1/BRCA2-PALB2 and FANCD1/BRCA2-RAD51 complex. 61
24817641 2014
49
Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. 61
24141787 2014
50
Fanconi anemia pathway defects in inherited and sporadic cancers. 61
26835350 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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRCA2 NM_000059.3(BRCA2):c.5946del (p.Ser1982fs)deletion Pathogenic 9325 rs80359550 13:32914438-32914438 13:32340301-32340301
2 BRCA2 NM_000059.3(BRCA2):c.8732C>A (p.Ala2911Glu)SNV Pathogenic 9339 rs80359130 13:32950906-32950906 13:32376769-32376769
3 BRCA2 NM_000059.3(BRCA2):c.658_659del (p.Val220fs)deletion Pathogenic 9342 rs80359604 13:32903605-32903606 13:32329468-32329469
4 BRCA2 NM_000059.3(BRCA2):c.8219T>A (p.Leu2740Ter)SNV Pathogenic 9343 rs80359070 13:32937558-32937558 13:32363421-32363421
5 BRCA2 NM_000059.3(BRCA2):c.4648G>T (p.Glu1550Ter)SNV Pathogenic 9344 rs80358695 13:32913140-32913140 13:32339003-32339003
6 BRCA2 NM_000059.3(BRCA2):c.9196C>T (p.Gln3066Ter)SNV Pathogenic 9347 rs80359180 13:32954222-32954222 13:32380085-32380085
7 BRCA2 NM_000059.3(BRCA2):c.631+2T>GSNV Pathogenic 9349 rs81002899 13:32900752-32900752 13:32326615-32326615
8 BRCA2 NM_000059.3(BRCA2):c.3109C>T (p.Gln1037Ter)SNV Pathogenic 37819 rs80358557 13:32911601-32911601 13:32337464-32337464
9 BRCA2 NM_000059.3(BRCA2):c.4243G>T (p.Glu1415Ter)SNV Pathogenic 37890 rs397507327 13:32912735-32912735 13:32338598-32338598
10 BRCA2 NM_000059.3(BRCA2):c.4965C>G (p.Tyr1655Ter)SNV Pathogenic 37936 rs80358721 13:32913457-32913457 13:32339320-32339320
11 BRCA2 NM_000059.3(BRCA2):c.5576_5579del (p.Ile1859fs)deletion Pathogenic 37975 rs80359520 13:32914068-32914071 13:32339929-32339932
12 BRCA2 NM_000059.3(BRCA2):c.5682C>G (p.Tyr1894Ter)SNV Pathogenic 37989 rs41293497 13:32914174-32914174 13:32340037-32340037
13 BRCA2 NM_000059.3(BRCA2):c.6952C>T (p.Arg2318Ter)SNV Pathogenic 38076 rs80358920 13:32920978-32920978 13:32346841-32346841
14 BRCA2 NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His)SNV Pathogenic 38077 rs28897743 13:32921033-32921033 13:32346896-32346896
15 BRCA2 NM_000059.3(BRCA2):c.7480C>T (p.Arg2494Ter)SNV Pathogenic 38099 rs80358972 13:32930609-32930609 13:32356472-32356472
16 BRCA2 NM_000059.3(BRCA2):c.9117G>A (p.Pro3039=)SNV Pathogenic 38215 rs28897756 13:32954050-32954050 13:32379913-32379913
17 BRCA2 NM_000059.3(BRCA2):c.9294C>G (p.Tyr3098Ter)SNV Pathogenic 38229 rs80359200 13:32968863-32968863 13:32394726-32394726
18 BRCA2 NM_000059.3(BRCA2):c.100G>T (p.Glu34Ter)SNV Pathogenic 51041 rs80358391 13:32893246-32893246 13:32319109-32319109
19 BRCA2 NM_000059.3(BRCA2):c.1399A>T (p.Lys467Ter)SNV Pathogenic 51118 rs80358427 13:32907014-32907014 13:32332877-32332877
20 BRCA2 NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter)SNV Pathogenic 51129 rs80358435 13:32893291-32893291 13:32319154-32319154
21 BRCA2 NM_000059.3(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)indel Pathogenic 51890 rs276174859 13:32914101-32914102 13:32339964-32339965
22 BRCA2 NM_000059.3(BRCA2):c.5791C>T (p.Gln1931Ter)SNV Pathogenic 51939 rs80358807 13:32914283-32914283 13:32340146-32340146
23 BRCA2 NM_000059.3(BRCA2):c.5857G>T (p.Glu1953Ter)SNV Pathogenic 51952 rs80358814 13:32914349-32914349 13:32340212-32340212
24 BRCA2 NM_000059.3(BRCA2):c.6656C>G (p.Ser2219Ter)SNV Pathogenic 52149 rs80358893 13:32915148-32915148 13:32341011-32341011
25 BRCA2 NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe)SNV Pathogenic 52430 rs80359014 13:32936733-32936733 13:32362596-32362596
26 BRCA2 NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val)SNV Pathogenic 52462 rs80359031 13:32937327-32937327 13:32363190-32363190
27 BRCA2 NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His)SNV Pathogenic 52515 rs41293511 13:32937506-32937506 13:32363369-32363369
28 BRCA2 NM_000059.3(BRCA2):c.92G>A (p.Trp31Ter)SNV Pathogenic 52808 rs397508045 13:32893238-32893238 13:32319101-32319101
29 BRCA2 NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter)SNV Pathogenic 52826 rs80359212 13:32968951-32968951 13:32394814-32394814
30 BRCA2 NM_000059.3(BRCA2):c.9672dup (p.Tyr3225fs)duplication Pathogenic 126217 rs80359773 13:32972321-32972322 13:32398184-32398185
31 BRCA2 NM_000059.3(BRCA2):c.7464_7465insTA (p.Asp2489Ter)insertion Pathogenic 254605 rs886038169 13:32930592-32930593 13:32356455-32356456
32 BRCA2 NM_000059.3(BRCA2):c.7579del (p.Ala2526_Val2527insTer)deletion Pathogenic 491326 rs1555286294 13:32930708-32930708 13:32356571-32356571
33 BRCA2 NM_000059.3(BRCA2):c.9693del (p.Leu3232fs)deletion Pathogenic 559592 rs1566260827 13:32972343-32972343 13:32398206-32398206
34 BRCA2 NM_000059.3(BRCA2):c.5453C>A (p.Ser1818Ter)SNV Pathogenic 623177 rs1566232471 13:32913945-32913945 13:32339808-32339808
35 BRCA2 NM_000059.3(BRCA2):c.8488-1G>ASNV Pathogenic/Likely pathogenic 38164 rs397507404 13:32945092-32945092 13:32370955-32370955
36 BRCA2 NM_000059.3(BRCA2):c.631+1G>ASNV Pathogenic/Likely pathogenic 9348 rs81002897 13:32900751-32900751 13:32326614-32326614
37 BRCA2 NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro)SNV Likely pathogenic 9345 rs80358979 13:32930658-32930658 13:32356521-32356521
38 BRCA2 NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu)SNV Conflicting interpretations of pathogenicity 52216 rs80358912 13:32918730-32918730 13:32344593-32344593
39 BRCA2 NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr)SNV Conflicting interpretations of pathogenicity 52256 rs80358930 13:32929041-32929041 13:32354904-32354904
40 BRCA2 NM_000059.3(BRCA2):c.5962G>A (p.Val1988Ile)SNV Conflicting interpretations of pathogenicity 91430 rs28897739 13:32914454-32914454 13:32340317-32340317
41 BRCA2 NM_000059.3(BRCA2):c.7625C>T (p.Thr2542Met)SNV Conflicting interpretations of pathogenicity 96854 rs80358989 13:32931886-32931886 13:32357749-32357749
42 BRCA2 NM_000059.3(BRCA2):c.4535G>A (p.Arg1512His)SNV Conflicting interpretations of pathogenicity 51661 rs80358685 13:32913027-32913027 13:32338890-32338890
43 BRCA2 NM_000059.3(BRCA2):c.4478A>G (p.Glu1493Gly)SNV Uncertain significance 126045 rs80358679 13:32912970-32912970 13:32338833-32338833
44 BRCA2 NM_000059.3(BRCA2):c.7628A>G (p.Tyr2543Cys)SNV Uncertain significance 96855 rs431825354 13:32931889-32931889 13:32357752-32357752
45 BRCA2 NM_000059.3(BRCA2):c.1433C>A (p.Thr478Lys)SNV Uncertain significance 96764 rs431825282 13:32907048-32907048 13:32332911-32332911
46 BRCA2 NM_000059.3(BRCA2):c.2186T>C (p.Ile729Thr)SNV Uncertain significance 96780 rs431825296 13:32910678-32910678 13:32336541-32336541
47 BRCA2 NM_000059.3(BRCA2):c.5747A>G (p.His1916Arg)SNV Uncertain significance 96828 rs431825334 13:32914239-32914239 13:32340102-32340102
48 BRCA2 NM_000059.3(BRCA2):c.6626T>C (p.Ile2209Thr)SNV Uncertain significance 96840 rs431825344 13:32915118-32915118 13:32340981-32340981
49 BRCA2 NM_000059.3(BRCA2):c.7447A>G (p.Ser2483Gly)SNV Uncertain significance 52334 rs80358966 13:32930576-32930576 13:32356439-32356439
50 BRCA2 NM_000059.3(BRCA2):c.9538C>T (p.Leu3180Phe)SNV Uncertain significance 52865 rs200598289 13:32971071-32971071 13:32396934-32396934

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

73
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 RAD51 FANCL FANCD2 BRIP1 BRCA2
2
Show member pathways
12.6 SLX4 RAD51C RAD51 PALB2 FANCM FANCL
3
Show member pathways
12.58 RAD51 FANCG FANCF FANCE FANCD2 FANCC
4 12.38 RAD51 FANCD2 FANCB FANCA BRIP1 BRCA2
5
Show member pathways
12.22 RAD51C RAD51 H2AC18 BRCA2
6
Show member pathways
12.18 SLX4 RAD51C RAD51 PALB2 BRIP1 BRCA2
7
Show member pathways
12.02 SLX4 RAD51C RAD51 PALB2 BRIP1 BRCA2
8 11.88 SLX4 RAD51C RAD51 PALB2 FANCM FANCL
9
Show member pathways
11.73 RAD51 FANCL FANCG FANCF FANCE FANCD2
10 11.32 RAD51 FANCL FANCG FANCF FANCE FANCD2

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 10.16 SLX4 RAD51C RAD51 PALB2 H2AC18 FANCM
2 nucleoplasm GO:0005654 9.93 SLX4 RAD51C RAD51 PALB2 FANCM FANCL
3 nuclear chromosome, telomeric region GO:0000784 9.54 SLX4 RAD51 BRCA2
4 lateral element GO:0000800 9.32 RAD51 BRCA2
5 Fanconi anaemia nuclear complex GO:0043240 9.32 FANCM FANCL FANCG FANCF FANCE FANCC
6 Holliday junction resolvase complex GO:0048476 9.26 SLX4 RAD51C

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 10 SLX4 RAD51 FANCM FANCL FANCI FANCG
2 cellular response to DNA damage stimulus GO:0006974 9.93 SLX4 RAD51C RAD51 PALB2 FANCM FANCL
3 DNA recombination GO:0006310 9.72 SLX4 RAD51C RAD51 PALB2 BRCA2
4 response to gamma radiation GO:0010332 9.67 FANCD2 ERCC6 BRCA2
5 nucleotide-excision repair GO:0006289 9.67 SLX4 FANCC BRIP1 BRCA2
6 double-strand break repair via homologous recombination GO:0000724 9.65 SLX4 RAD51C RAD51 PALB2 BRCA2
7 gamete generation GO:0007276 9.63 FANCL FANCD2 FANCC
8 response to X-ray GO:0010165 9.61 RAD51 ERCC6 BRCA2
9 DNA repair GO:0006281 9.6 SLX4 RAD51C RAD51 PALB2 FANCM FANCL
10 neuronal stem cell population maintenance GO:0097150 9.58 FANCD2 FANCC
11 brain morphogenesis GO:0048854 9.58 FANCD2 FANCC
12 telomere maintenance via recombination GO:0000722 9.58 RAD51C RAD51 BRCA2
13 resolution of meiotic recombination intermediates GO:0000712 9.57 SLX4 FANCM
14 regulation of regulatory T cell differentiation GO:0045589 9.56 FANCD2 FANCA
15 inner cell mass cell proliferation GO:0001833 9.55 PALB2 BRCA2
16 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.54 FANCB ERCC6
17 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.52 RAD51 FANCB
18 regulation of CD40 signaling pathway GO:2000348 9.51 FANCD2 FANCA
19 mitotic recombination-dependent replication fork processing GO:1990426 9.48 RAD51 BRCA2

Molecular functions related to Fanconi Anemia, Complementation Group D1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.21 SLX4 RAD51C RAD51 PALB2 FANCM FANCL
2 chromatin binding GO:0003682 9.72 RAD51 FANCM FAAP24 ERCC6 BRIP1
3 crossover junction endodeoxyribonuclease activity GO:0008821 9.37 SLX4 RAD51C
4 DNA binding GO:0003677 9.36 RAD51C RAD51 PALB2 H2AC18 FANCM FANCI
5 DNA-dependent ATPase activity GO:0008094 9.33 RAD51C RAD51 ERCC6
6 DNA polymerase binding GO:0070182 9.13 RAD51 FANCI FANCD2

Sources for Fanconi Anemia, Complementation Group D1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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