FANCA
MCID: FNC027
MIFTS: 71

Fanconi Anemia, Complementation Group a (FANCA) malady

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

Aliases & Classifications for Fanconi Anemia, Complementation Group a

Aliases & Descriptions for Fanconi Anemia, Complementation Group a:

Name: Fanconi Anemia, Complementation Group a 54 66 13 13 38 69
Fanconi Anemia 12 71 23 50 24 25 56 66 29 42 14 69
Fanconi Pancytopenia 12 23 50 24 25 56
Fanconi's Anemia 38 12 50
Fa 71 25 66
Fanconi Anemia Complementation Group a 12 29
Fanconi Panmyelopathy 12 25
Fanca 12 66
Estren-Dameshek Variant of Fanconi Pancytopenia 66
Estren-Dameshek Variant of Fanconi Anemia 66
Fanconi Anemia Estren-Dameshek Variant 66
Fanconi Hypoplastic Anemia 25
Fanconis Anemia 52

Characteristics:

Orphanet epidemiological data:

56
fanconi anemia
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood;

Classifications:



External Ids:

OMIM 54 227650
Disease Ontology 12 DOID:0111095 DOID:13636
ICD10 33 D61.09
MeSH 42 D005199
NCIt 47 C62505
SNOMED-CT 64 30575002
Orphanet 56 ORPHA84
MESH via Orphanet 43 D005199
ICD10 via Orphanet 34 D61.0
UMLS via Orphanet 70 C0015625
UMLS 69 C0015625

Summaries for Fanconi Anemia, Complementation Group a

OMIM : 54 Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic... (227650) more...

MalaCards based summary : Fanconi Anemia, Complementation Group a, also known as fanconi anemia, is related to fanconi anemia, complementation group c and fanca-related fanconi anemia, and has symptoms including hypertelorism, frontal bossing and finger syndactyly. An important gene associated with Fanconi Anemia, Complementation Group a is FANCA (Fanconi Anemia Complementation Group A), and among its related pathways/superpathways are DNA Double-Strand Break Repair and TCR Signaling (Qiagen). The drugs alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include Blood, bone and bone marrow, and related phenotypes are Decreased homologous recombination repair frequency and cellular

NIH Rare Diseases : 50 fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. people with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). not enough white blood cells can lead to infections; a lack of red blood cells may result in anemia; and a decreased amount of platelets may lead to excess bleeding. fanconi anemia can be caused by mutations in various genes; it can either be inherited in an autosomal recessive, autosomal dominant or x-linked recessive fashion. hematopoietic stem cell transplantation (hsct) is the only curative treatment for the blood problems. genetics home reference have information about fanconi anemia. last updated: 12/13/2016

UniProtKB/Swiss-Prot : 66 Fanconi anemia, complementation group A: 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.

Genetics Home Reference : 25 Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.

Disease Ontology : 12 A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.

GeneReviews: NBK1401

Related Diseases for Fanconi Anemia, Complementation Group a

Diseases in the Fanconi Anemia Complementation Group U family:

Fanconi Anemia, Complementation Group T Fanconi Anemia, Complementation Group L
Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group P
Fanconi Anemia, Complementation Group Q Fanconi Anemia, Complementation Group N
Fanconi Anemia, Complementation Group a Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group O Fanconi Anemia Complementation Group V
Fanconi Anemia Complementation Group R

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

(show top 50) (show all 56)
id Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group c 12.4
2 fanca-related fanconi anemia 12.1
3 fas-related autoimmune lymphoproliferative syndrome 11.8
4 autoimmune lymphoproliferative syndrome 11.6
5 friedreich ataxia 11.3
6 fetal alcohol syndrome 11.1
7 fetal alcohol spectrum disorder 11.0
8 fanconi anemia, complementation group e 11.0
9 congenital hypoplastic anemia 11.0
10 squamous cell carcinoma, head and neck 11.0
11 fanconi anemia, complementation group f 11.0
12 fanconi anemia, complementation group b 11.0
13 deficiency anemia 11.0
14 pancytopenia 11.0
15 fanconi renotubular syndrome 1 10.9
16 maternal uniparental disomy of chromosome 16 10.9
17 fanconi anemia, complementation group t 10.9
18 fanconi anemia, complementation group d1 10.8
19 fanconi anemia, complementation group d2 10.8
20 dyslexia 1 10.4 FANCA FANCC FANCD2 FANCG
21 maternal uniparental disomy of chromosome 13 10.4 FANCA SLX4
22 follicular lymphoma 1 10.4 FANCA FANCC FANCD2 FANCE FANCF FANCG
23 epilepsy, progressive myoclonic 7 10.4 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
24 cloacal exstrophy 10.4 ERCC4 FANCI FANCL FANCM
25 aorto-ventricular tunnel 10.4 BRCA1 BRCA2
26 bacteremia 10.4 BRCA1 BRCA2 PALB2
27 bronchogenic cyst 10.4 BRCA1 BRCA2 BRIP1 PALB2
28 blood coagulation disease 10.4 FANCA FANCC FANCG
29 bronchiectasis oligospermia 10.4 BRCA1 BRCA2 BRIP1 PALB2
30 polyembryoma of the ovary 10.4 BRCA1 BRCA2 RAD51
31 nemaline myopathy 8, autosomal recessive 10.4 BRCA1 BRCA2 BRIP1 PALB2
32 episodic muscle weakness, x-linked 10.4 FANCA FANCB FANCC FANCD2 FANCE FANCF
33 hypogonadotropic hypogonadism 20 with or without anosmia 10.4 FANCA FANCE FANCF FANCL
34 burn scar 10.4 BRCA1 BRCA2
35 kunjin encephalitis 10.4 BRCA1 BRCA2
36 pituitary stalk meningioma 10.4 BRCA1 BRCA2 RAD51
37 lethal congenital contracture syndrome 7 10.4 BRCA1 BRCA2
38 larynx liposarcoma 10.4 BRCA1 BRCA2 BRIP1 PALB2 RAD51 RAD51C
39 familial glucocorticoid deficiency 10.4 BRCA1 BRCA2 BRIP1 FANCD2 PALB2 RAD51
40 autoimmune disease of cardiovascular system 10.4 BRCA1 BRCA2
41 tricho odonto onychodysplasia syndactyly dominant type 10.3 FANCI FANCL
42 heart malignant hemangiopericytoma 10.3 BRCA1 BRCA2
43 glanders 10.3 BRCA2 BRIP1 FANCA FANCC FANCD2 FANCE
44 lung clear cell-sugar-tumor 10.3 BRCA1 BRCA2
45 lymphedema-distichiasis syndrome 10.2 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
46 trachea squamous cell carcinoma 10.2 BRCA1 BRCA2 XRCC2
47 leukemia 9.9
48 breast cancer 9.9
49 melanoma 9.7
50 ovarian cancer 9.7

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



Diseases related to Fanconi Anemia, Complementation Group a

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group a

Symptoms by clinical synopsis from OMIM:

227650

Clinical features from OMIM:

227650

Human phenotypes related to Fanconi Anemia, Complementation Group a:

56 32 (show top 50) (show all 129)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Occasional (29-5%) HP:0000316
2 frontal bossing 56 32 Occasional (29-5%) HP:0002007
3 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
4 high palate 56 32 Occasional (29-5%) HP:0000218
5 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
6 ptosis 56 32 Occasional (29-5%) HP:0000508
7 nystagmus 56 32 Occasional (29-5%) HP:0000639
8 intellectual disability 56 32 Frequent (79-30%) HP:0001249
9 hyperreflexia 56 32 Occasional (29-5%) HP:0001347
10 scoliosis 56 32 Frequent (79-30%) HP:0002650
11 hearing impairment 56 32 Occasional (29-5%) HP:0000365
12 cataract 56 32 Occasional (29-5%) HP:0000518
13 global developmental delay 56 32 Frequent (79-30%) HP:0001263
14 umbilical hernia 56 32 Occasional (29-5%) HP:0001537
15 pes planus 56 32 Occasional (29-5%) HP:0001763
16 microcephaly 56 32 Frequent (79-30%) HP:0000252
17 visual impairment 56 32 Occasional (29-5%) HP:0000505
18 short stature 56 32 Very frequent (99-80%) HP:0004322
19 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
20 cranial nerve paralysis 56 32 Occasional (29-5%) HP:0006824
21 hypertrophic cardiomyopathy 56 32 Occasional (29-5%) HP:0001639
22 anemia 56 32 Very frequent (99-80%) HP:0001903
23 cleft palate 56 32 Occasional (29-5%) HP:0000175
24 micrognathia 56 32 Occasional (29-5%) HP:0000347
25 myelodysplasia 56 32 Occasional (29-5%) HP:0002863
26 weight loss 56 32 Occasional (29-5%) HP:0001824
27 strabismus 56 32 Occasional (29-5%) HP:0000486
28 patent ductus arteriosus 56 32 Occasional (29-5%) HP:0001643
29 epicanthus 56 32 Occasional (29-5%) HP:0000286
30 dolichocephaly 56 32 Occasional (29-5%) HP:0000268
31 abnormality of the aortic valve 56 32 Occasional (29-5%) HP:0001646
32 reduced bone mineral density 56 32 Occasional (29-5%) HP:0004349
33 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
34 arteriovenous malformation 56 32 Occasional (29-5%) HP:0100026
35 thrombocytopenia 56 32 Very frequent (99-80%) HP:0001873
36 hypopigmented skin patches 56 32 Very frequent (99-80%) HP:0001053
37 ventriculomegaly 56 32 Occasional (29-5%) HP:0002119
38 hypogonadism 56 32 Occasional (29-5%) HP:0000135
39 aganglionic megacolon 56 32 Occasional (29-5%) HP:0002251
40 hip dislocation 56 32 Occasional (29-5%) HP:0002827
41 microphthalmia 56 32 Occasional (29-5%) HP:0000568
42 intrauterine growth retardation 56 32 Occasional (29-5%) HP:0001511
43 hypospadias 56 32 Occasional (29-5%) HP:0000047
44 clinodactyly of the 5th finger 56 32 Occasional (29-5%) HP:0004209
45 abnormality of the femur 56 32 Occasional (29-5%) HP:0002823
46 renal hypoplasia/aplasia 56 32 Occasional (29-5%) HP:0008678
47 abnormality of chromosome stability 56 32 Very frequent (99-80%) HP:0003220
48 multiple cafe-au-lait spots 56 32 Occasional (29-5%) HP:0007565
49 irregular hyperpigmentation 56 32 Very frequent (99-80%) HP:0007400
50 upslanted palpebral fissure 56 32 Occasional (29-5%) HP:0000582

UMLS symptoms related to Fanconi Anemia, Complementation Group a:


anemic pallor

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.88 BRCA1 RAD51 XRCC2
2 Decreased homologous recombination repair frequency GR00151-A-2 10.88 BRCA1 RAD51 XRCC2
3 Decreased homologous recombination repair frequency GR00236-A-1 10.88 BRCA1 RAD51 BRCA2 FANCA PALB2 FANCI
4 Decreased homologous recombination repair frequency GR00236-A-2 10.88 RAD51 BRCA1 BRCA2 FANCA PALB2 FANCI
5 Decreased homologous recombination repair frequency GR00236-A-3 10.88 BRCA1 RAD51 BRCA2 FANCA PALB2
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.11 FANCE FANCF FANCG FANCI FANCL FANCM
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.9 UBE2T XRCC2 BRCA1 BRCA2 ERCC4 FANCA
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.9 UBE2T XRCC2 BRCA1 BRCA2 ERCC4 FANCA
9 Decreased viability with cisplatin GR00101-A-4 9.56 BRCA1 BRCA2 BRIP1 RAD51
10 Synthetic lethal with cisplatin GR00101-A-1 9.26 BRCA1 BRCA2 BRIP1 RAD51

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 FANCD2 FANCG FANCL FANCM PALB2 RAD51
2 endocrine/exocrine gland MP:0005379 10.15 FANCL FANCM RAD51C SLX4 BRCA1 BRCA2
3 growth/size/body region MP:0005378 10.1 RAD51C SLX4 XRCC2 BRCA1 BRCA2 ERCC4
4 embryo MP:0005380 10.01 BRCA1 BRCA2 FANCA FANCL PALB2 RAD51
5 mortality/aging MP:0010768 9.97 BRCA1 BRCA2 ERCC4 FANCA FANCD2 FANCI
6 limbs/digits/tail MP:0005371 9.73 SLX4 XRCC2 BRCA1 BRCA2 FANCD2 PALB2
7 neoplasm MP:0002006 9.56 BRCA1 BRCA2 BRIP1 FANCA FANCD2 FANCM
8 reproductive system MP:0005389 9.4 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC

Drugs & Therapeutics for Fanconi Anemia, Complementation Group a

Drugs for Fanconi Anemia, Complementation Group a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 104)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
2
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 55-98-1 2478
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3, Phase 1, Early Phase 1 50-18-0, 6055-19-2 2907
4
Fludarabine Approved Phase 2, Phase 3, Phase 1, Early Phase 1 21679-14-1, 75607-67-9 30751
5
Vidarabine Approved Phase 2, Phase 3,Phase 1,Early Phase 1 24356-66-9 32326 21704
6
Cysteamine Approved, Investigational Phase 3,Phase 1,Phase 2 60-23-1 6058
7
Deferasirox Approved, Investigational Phase 3,Phase 2 201530-41-8 5493381
8
Iron Approved Phase 3,Phase 2 7439-89-6 23925
9
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
10
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3,Phase 1 128794-94-5 5281078
11
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1 24280-93-1 446541
12
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
13
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
14 Alkylating Agents Phase 2, Phase 3, Phase 1, Early Phase 1
15 Anti-Infective Agents Phase 2, Phase 3, Phase 1, Early Phase 1
16 Antimetabolites Phase 2, Phase 3, Phase 1, Early Phase 1
17 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1, Early Phase 1
18 Antineoplastic Agents, Alkylating Phase 2, Phase 3, Phase 1, Early Phase 1
19 Antirheumatic Agents Phase 2, Phase 3, Phase 1, Early Phase 1
20 Antiviral Agents Phase 2, Phase 3,Phase 1,Early Phase 1
21 Immunosuppressive Agents Phase 2, Phase 3, Phase 1, Early Phase 1
22 Chelating Agents Phase 3,Phase 2
23 Iron Chelating Agents Phase 3,Phase 2
24 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1
25 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1
26 Antifungal Agents Phase 2, Phase 3,Phase 1
27
Melphalan Approved Phase 2,Phase 1 148-82-3 4053 460612
28
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
29
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
30
Lenograstim Approved Phase 1, Phase 2 135968-09-1
31
Cyclosporine Approved, Investigational, Vet_approved Phase 1, Phase 2 79217-60-0, 59865-13-3 5284373 6435893
32
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
33
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
34
Deferiprone Approved Phase 2 30652-11-0 2972
35
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492
36
Thiotepa Approved Phase 2,Phase 1 52-24-4 5453
37
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
38
Fosphenytoin Approved Phase 1, Phase 2 93390-81-9 56339
39
Phenytoin Approved, Vet_approved Phase 1, Phase 2 57-41-0 1775
40 Antiemetics Phase 2,Phase 1
41 Anti-Inflammatory Agents Phase 2,Phase 1
42 Antilymphocyte Serum Phase 2,Phase 1
43 Antineoplastic Agents, Hormonal Phase 2,Phase 1
44 Autonomic Agents Phase 2,Phase 1
45 Gastrointestinal Agents Phase 2,Phase 1
46 glucocorticoids Phase 2,Phase 1
47 Hormone Antagonists Phase 2,Phase 1
48 Hormones Phase 2,Phase 1
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
50 Methylprednisolone acetate Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 79)
id Name Status NCT ID Phase
1 Fanconi Syndrome Due to ARVs in HIV-Infected Persons Completed NCT00499187 Phase 4
2 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3
3 Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis Completed NCT01000961 Phase 3
4 A Study Assessing the Efficacy and Safety of Deferasirox in Patients With Transfusion-dependent Iron Overload Completed NCT00171821 Phase 3
5 TBI Dose De-escalation for Fanconi Anemia Recruiting NCT00352976 Phase 2, Phase 3
6 Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases Unknown status NCT00084695 Phase 2
7 Multicenter Transplant Study for Fanconi Anemia Completed NCT01082133 Phase 2
8 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100 Completed NCT00479115 Phase 1, Phase 2
9 Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi's Anemia Completed NCT00005898 Phase 1, Phase 2
10 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2
11 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2
12 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2
13 Bortezomib Followed by High-Dose Melphalan and Bortezomib as Conditioning Regimen for Tandem Stem Cell Transplants Completed NCT00307086 Phase 2
14 Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remi Completed NCT00305708 Phase 1, Phase 2
15 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
16 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2
17 A Protocol to Allow Treatment With ICL670 for Patients With or at Risk of Life-threatening Complications of Transfusional Iron Overload Who Are Unable to Tolerate Other Iron Chelators Because of Documented Severe Toxicity Completed NCT01044186 Phase 2
18 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia Recruiting NCT00258427 Phase 2
19 Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia Recruiting NCT00630253 Phase 1, Phase 2
20 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor Recruiting NCT02678533 Phase 1, Phase 2
21 Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1 Recruiting NCT02931071 Phase 2
22 HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy Recruiting NCT02143830 Phase 2
23 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2
24 Talazoparib Beyond BRCA (TBB) Trial Recruiting NCT02401347 Phase 2
25 CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor Transplant Recruiting NCT01049854 Phase 2
26 A Study of LY2606368 (Prexasertib) in Patients With Solid Tumors With Replicative Stress or Homologous Repair Deficiency Recruiting NCT02873975 Phase 2
27 Hematopoietic Stem Cell Transplant for Fanconi Anemia Active, not recruiting NCT01071239 Phase 2
28 Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia Active, not recruiting NCT00453388 Phase 2
29 Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Active, not recruiting NCT00987480 Phase 2
30 Carfilzomib + High Dose Melphalan as Preparative Regimen for Autologous Hematopoietic Stem Cell Transplantation Active, not recruiting NCT01690143 Phase 1, Phase 2
31 Phase II Study of BMN 673 Active, not recruiting NCT02286687 Phase 2
32 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2
33 Stem Cell Transplantation for Fanconi Anemia Terminated NCT00167206 Phase 1, Phase 2
34 Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia Terminated NCT00590460 Phase 1, Phase 2
35 Stem Cell Transplant for Hematologic Diseases Terminated NCT00058825 Phase 1, Phase 2
36 Double Cord Blood Transplantation Terminated NCT00801931 Phase 1, Phase 2
37 Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia Unknown status NCT00006127 Phase 1
38 Phase I Pilot Study of CD34 Enriched, Fanconi's Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi's Anemia Unknown status NCT00005896 Phase 1
39 Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia Completed NCT00243399 Phase 1
40 Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi's Anemia Completed NCT00317876 Phase 1
41 Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia Completed NCT00272857 Phase 1
42 Gene Therapy for the Treatment of Fanconi's Anemia Type C Completed NCT00001399 Phase 1
43 Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia Completed NCT00093743 Phase 1
44 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1
45 Gene Therapy for Fanconi Anemia Recruiting NCT01331018 Phase 1
46 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
47 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Recruiting NCT02231710 Phase 1
48 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1
49 Study of Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation Unknown status NCT01316549
50 Pilot Study of Etanercept (Enbrel) in Children With Fanconi Anemia Completed NCT00965666

Search NIH Clinical Center for Fanconi Anemia, Complementation Group a

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cochrane evidence based reviews: fanconi anemia

Genetic Tests for Fanconi Anemia, Complementation Group a

Genetic tests related to Fanconi Anemia, Complementation Group a:

id Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group a 29
2 Fanconi Anemia 29 24

Anatomical Context for Fanconi Anemia, Complementation Group a

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

39
Bone, Bone Marrow, Skin, Kidney, Uterus, Testis, Pituitary
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Fanconi Anemia, Complementation Group a:
id Tissue Anatomical CompartmentCell Relevance
1 Blood Hematopoietic Bone Marrow Hematopoietic Stem Cells Potential therapeutic candidate

Publications for Fanconi Anemia, Complementation Group a

Articles related to Fanconi Anemia, Complementation Group a:

(show all 15)
id Title Authors Year
1
p38 mitogen-activated protein kinase inhibition enhances inA vitro erythropoiesis of Fanconi anemia, complementation group A-deficient boneA marrow cells. ( 25534205 )
2015
2
Damage-dependent regulation of MUS81-EME1 by Fanconi anemia complementation group A protein. ( 24170812 )
2013
3
Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A. ( 23791750 )
2013
4
Human Fanconi Anemia Complementation Group A Protein Stimulates the 5' Flap Endonuclease Activity of FEN1. ( 24349332 )
2013
5
Changes in vimentin, lamin A/C and mitofilin induceA aberrant cell organization in fibroblasts from Fanconi anemia complementation group A (FA-A) patients. ( 23831462 )
2013
6
Fanconi anemia complementation group A (FANCA) protein has intrinsic affinity for nucleic acids with preference for single-stranded forms. ( 22194614 )
2012
7
Validation of Fanconi anemia complementation Group A assignment using molecular analysis. ( 19367192 )
2009
8
Fanconi anemia complementation group A cells are hypersensitive to chromium(VI)-induced toxicity. ( 12426130 )
2002
9
Functional analysis of the putative peroxidase domain of FANCA, the Fanconi anemia complementation group A protein. ( 11161829 )
2001
10
Fanconi anemia, complementation group A, cells are defective in ability to produce incisions at sites of psoralen interstrand cross-links. ( 10753211 )
2000
11
A deficiency in a 230 kDa DNA repair protein in fanconi anemia complementation group A cells is corrected by the FANCA cDNA. ( 10469633 )
1999
12
Intracellular localization of the Fanconi anemia complementation group A protein. ( 10364463 )
1999
13
SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein. ( 10600472 )
1999
14
The Fanconi anemia complementation group A protein contains a peroxidase domain. ( 9608546 )
1998
15
A damage-recognition protein which binds to DNA containing interstrand cross-links is absent or defective in Fanconi anemia, complementation group A, cells. ( 8414972 )
1993

Variations for Fanconi Anemia, Complementation Group a

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

66 (show all 29)
id Symbol AA change Variation ID SNP ID
1 FANCA p.Ala181Val VAR_009639 rs17232246
2 FANCA p.Leu244Phe VAR_009640
3 FANCA p.Asp252Gly VAR_009641 rs17225943
4 FANCA p.Arg435Cys VAR_009642 rs148473140
5 FANCA p.His492Arg VAR_009643
6 FANCA p.Leu817Pro VAR_009647
7 FANCA p.Leu845Pro VAR_009648
8 FANCA p.Arg1055Leu VAR_009649
9 FANCA p.His1110Pro VAR_009650
10 FANCA p.Arg1117Gly VAR_009651 rs149277003
11 FANCA p.Gln1128Glu VAR_009652
12 FANCA p.Thr1131Ala VAR_009653 rs574034197
13 FANCA p.Trp1302Arg VAR_009656
14 FANCA p.His1417Asp VAR_009658 rs17227403
15 FANCA p.Asp598Asn VAR_017497
16 FANCA p.Ser858Arg VAR_017498 rs17233141
17 FANCA p.Arg1055Trp VAR_017499 rs753063086
18 FANCA p.Leu1082Pro VAR_017500
19 FANCA p.Ser1088Phe VAR_017501 rs17233497
20 FANCA p.Phe1262Leu VAR_017502
21 FANCA p.Asp1359Tyr VAR_017503
22 FANCA p.Met1360Ile VAR_017504
23 FANCA p.Pro1324Leu VAR_017505 rs182657062
24 FANCA p.Leu210Arg VAR_038012
25 FANCA p.Leu660Pro VAR_038013
26 FANCA p.Tyr843Asp VAR_038015 rs374030577
27 FANCA p.Gln869Pro VAR_038016 rs780825099
28 FANCA p.Leu1249Pro VAR_038019 rs753316789
29 FANCA p.Arg1400His VAR_038021 rs149851163

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

6 (show top 50) (show all 91)
id Gene Variation Type Significance SNP ID Assembly Location
1 FANCA NM_000135.2: c.1627_1900del274 deletion Pathogenic
2 FANCA NM_000135.2(FANCA): c.1115_1118delTTGG (p.Val372Alafs) deletion Pathogenic rs397507552 GRCh37 Chromosome 16, 89858442: 89858445
3 FANCA FANCA, 156-BP DEL, NT1515 deletion Pathogenic
4 FANCA NM_000135.2(FANCA): c.894_1006del113 (p.Trp298Cysfs) deletion Pathogenic
5 FANCA NM_000135.2(FANCA): c.1615delG (p.Asp539Thrfs) deletion Pathogenic rs778507965 GRCh38 Chromosome 16, 89782870: 89782870
6 FANCA NM_000135.2(FANCA): c.3558dupG (p.Arg1187Glufs) duplication Pathogenic rs747851434 GRCh38 Chromosome 16, 89745027: 89745027
7 FANCA NM_000135.2(FANCA): c.1007_3066del deletion Pathogenic GRCh38 Chromosome 16, 89751224: 89795381
8 FANCA NM_000135.2(FANCA): c.1606delT (p.Ser536Glnfs) deletion Pathogenic rs587776570 GRCh38 Chromosome 16, 89782879: 89782879
9 FANCA NM_000135.2(FANCA): c.513G> A (p.Trp171Ter) single nucleotide variant Pathogenic rs121907930 GRCh37 Chromosome 16, 89877124: 89877124
10 FANCA NM_000135.2(FANCA): c.3720_3724delAAACA (p.Glu1240Aspfs) deletion Pathogenic rs794726660 GRCh38 Chromosome 16, 89742841: 89742845
11 FANCF NM_022725.3(FANCF): c.230_252del23 (p.Val77Glyfs) deletion Pathogenic rs730880277 GRCh37 Chromosome 11, 22647105: 22647127
12 FANCF NM_022725.3(FANCF): c.484_485delCT (p.Leu162Aspfs) deletion Pathogenic/Likely pathogenic rs587778340 GRCh37 Chromosome 11, 22646872: 22646873
13 FANCC NM_000136.2(FANCC): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic rs121917783 GRCh37 Chromosome 9, 97912338: 97912338
14 FANCC NM_000136.2(FANCC): c.456+4A> T single nucleotide variant Pathogenic rs104886456 GRCh37 Chromosome 9, 97934315: 97934315
15 FANCC NM_000136.2(FANCC): c.37C> T (p.Gln13Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917784 GRCh37 Chromosome 9, 98011537: 98011537
16 FANCC NM_000136.2(FANCC): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic rs104886457 GRCh37 Chromosome 9, 97864024: 97864024
17 FANCC NM_000136.2(FANCC): c.67delG (p.Asp23Ilefs) deletion Pathogenic rs104886459 GRCh37 Chromosome 9, 98011507: 98011507
18 FANCA NM_000135.2(FANCA): c.3788_3790delTCT (p.Phe1263del) deletion Pathogenic rs397507553 GRCh37 Chromosome 16, 89807250: 89807252
19 BRCA1 NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp) single nucleotide variant Pathogenic rs55770810 GRCh37 Chromosome 17, 41215948: 41215948
20 FANCC NM_000136.2(FANCC): c.355_360delTCTCATinsA (p.Ser119Asnfs) indel Pathogenic rs587779904 GRCh37 Chromosome 9, 97934415: 97934420
21 FANCC NM_000136.2(FANCC): c.843+1G> A single nucleotide variant Likely pathogenic rs587779909 GRCh37 Chromosome 9, 97897627: 97897627
22 FANCA NM_000135.2(FANCA): c.862G> T (p.Glu288Ter) single nucleotide variant Pathogenic rs148100796 GRCh37 Chromosome 16, 89865605: 89865605
23 FANCA NM_000135.2(FANCA): c.3066+1G> T single nucleotide variant Pathogenic rs587783028 GRCh38 Chromosome 16, 89752137: 89752137
24 FANCC NM_000136.2(FANCC): c.1302dupT (p.Gly435Trpfs) duplication Pathogenic rs730881709 GRCh38 Chromosome 9, 95111490: 95111490
25 FANCC NM_000136.2(FANCC): c.319C> T (p.Gln107Ter) single nucleotide variant Pathogenic rs730881731 GRCh37 Chromosome 9, 98002957: 98002957
26 FANCG NM_004629.1(FANCG): c.1747G> T (p.Glu583Ter) single nucleotide variant Likely pathogenic rs786204205 GRCh38 Chromosome 9, 35074384: 35074384
27 FANCA NM_000135.2(FANCA): c.3403_3405delTTC (p.Phe1135del) deletion Pathogenic rs786204246 GRCh37 Chromosome 16, 89813242: 89813244
28 FANCA NM_000135.2(FANCA): c.2839dupT (p.Ser947Phefs) duplication Pathogenic/Likely pathogenic rs756367276 GRCh38 Chromosome 16, 89761962: 89761962
29 FANCA NM_000135.2(FANCA): c.283+3A> C single nucleotide variant Pathogenic rs786204204 GRCh38 Chromosome 16, 89814517: 89814517
30 FANCA NM_000135.2(FANCA): c.97delG (p.Glu33Lysfs) deletion Pathogenic rs786204238 GRCh38 Chromosome 16, 89815969: 89815969
31 FANCC NM_000136.2(FANCC): c.844-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs774209201 GRCh37 Chromosome 9, 97888864: 97888864
32 FANCA NM_000135.2(FANCA): c.2557C> T (p.Arg853Ter) single nucleotide variant Pathogenic rs752160950 GRCh38 Chromosome 16, 89767185: 89767185
33 FANCA FANCA, IVS7DS, G-A, +5 single nucleotide variant Pathogenic
34 FANCA NM_000135.2(FANCA): c.2762A> T (p.Lys921Ile) single nucleotide variant Likely pathogenic rs879255255 GRCh37 Chromosome 16, 89831314: 89831314
35 FANCA NM_000135.2(FANCA): c.987_990delTCAC (p.His330Alafs) deletion Pathogenic rs772359099 GRCh38 Chromosome 16, 89795922: 89795925
36 FANCA NM_000135.2(FANCA): c.4015delC (p.Leu1339Serfs) deletion Likely pathogenic rs762902309 GRCh37 Chromosome 16, 89805693: 89805693
37 BRCA1 NM_007294.3(BRCA1): c.594_597delTGTG (p.Ser198Argfs) deletion Pathogenic rs797045175 GRCh38 Chromosome 17, 43095919: 43095922
38 FANCG NM_004629.1(FANCG): c.156dupG (p.Leu53Alafs) duplication Pathogenic rs863224506 GRCh37 Chromosome 9, 35079167: 35079167
39 FANCC NM_000136.2(FANCC): c.896+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs863224441 GRCh37 Chromosome 9, 97888809: 97888809
40 FANCC NM_000136.2(FANCC): c.489_490delGA (p.Asn164Serfs) deletion Pathogenic rs863224470 GRCh37 Chromosome 9, 97933392: 97933393
41 FANCA NM_000135.2(FANCA): c.(?_-1)_522+?del deletion Pathogenic GRCh38 Chromosome 16, 89810707: 89816616
42 FANCA NM_000135.2(FANCA): c.2606A> C (p.Gln869Pro) single nucleotide variant Likely pathogenic rs780825099 GRCh37 Chromosome 16, 89831470: 89831470
43 FANCC NM_000136.2(FANCC): c.997-?_1154+?del deletion Pathogenic
44 FANCC NM_000136.2(FANCC): c.1290C> A (p.Tyr430Ter) single nucleotide variant Pathogenic/Likely pathogenic rs766105286 GRCh38 Chromosome 9, 95111502: 95111502
45 FANCI NM_001113378.1(FANCI): c.3623_3624delTG (p.Cys1209Leufs) deletion Pathogenic rs770318990 GRCh37 Chromosome 15, 89850875: 89850876
46 FANCI NM_001113378.1(FANCI): c.3924+1G> A single nucleotide variant Likely pathogenic rs864622739 GRCh38 Chromosome 15, 89315390: 89315390
47 FANCA NM_000135.2(FANCA): c.4069_4082delGCTGTGGACATGTA (p.Ala1357Leufs) deletion Pathogenic rs747892390 GRCh37 Chromosome 16, 89805626: 89805639
48 FANCA NM_000135.2(FANCA): c.3349A> G (p.Arg1117Gly) single nucleotide variant Pathogenic rs149277003 GRCh37 Chromosome 16, 89813298: 89813298
49 FANCA NM_000135.2(FANCA): c.416_417delTG (p.Val139Glyfs) deletion Pathogenic rs864622188 GRCh37 Chromosome 16, 89877346: 89877347
50 FANCA NM_000135.2(FANCA): c.238delT (p.Cys80Valfs) deletion Pathogenic rs864622187 GRCh38 Chromosome 16, 89814565: 89814565

Copy number variations for Fanconi Anemia, Complementation Group a from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 106526 16 88700000 90354753 Copy number FANCA Fanconi anemia

Expression for Fanconi Anemia, Complementation Group a

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

Pathways for Fanconi Anemia, Complementation Group a

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

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.26 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
2
Show member pathways
12.73 BRCA1 BRCA2 BRIP1 FANCD2 FANCL RAD51
3
Show member pathways
12.67 BRCA1 BRCA2 ERCC4 FANCA FANCC FANCD2
4 12.5 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
5
Show member pathways
12.28 BRCA1 BRCA2 RAD51 RAD51C
6
Show member pathways
12.27 BRCA1 BRCA2 BRIP1 ERCC4 PALB2 RAD51
7
Show member pathways
12.19 BRCA1 BRCA2 BRIP1 PALB2 RAD51 RAD51C
8 12.11 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
9
Show member pathways
11.61 BRCA1 FANCD2 RAD51
10
Show member pathways
11.57 BRCA1 BRCA2 FANCA FANCC FANCD2 FANCE
11 11.28 BRCA1 FANCD2 FANCL
12 10.74 BRCA1 FANCA FANCC FANCD2 FANCE FANCF

GO Terms for Fanconi Anemia, Complementation Group a

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.96 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
2 nuclear chromosome, telomeric region GO:0000784 9.67 BRCA2 ERCC4 RAD51 SLX4
3 condensed chromosome GO:0000793 9.5 BRCA1 FANCD2 RAD51
4 replication fork GO:0005657 9.48 RAD51C XRCC2
5 Holliday junction resolvase complex GO:0048476 9.46 RAD51C SLX4
6 Rad51B-Rad51C-Rad51D-XRCC2 complex GO:0033063 9.43 RAD51C XRCC2
7 lateral element GO:0000800 9.43 BRCA1 BRCA2 RAD51
8 ERCC4-ERCC1 complex GO:0070522 9.4 ERCC4 SLX4
9 Fanconi anaemia nuclear complex GO:0043240 9.23 FANCA FANCB FANCC FANCE FANCF FANCG
10 nucleus GO:0005634 10.16 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB

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

(show all 31)
id Name GO ID Score Top Affiliating Genes
1 double-strand break repair via homologous recombination GO:0000724 9.97 BRCA1 BRCA2 ERCC4 PALB2 RAD51 RAD51C
2 DNA repair GO:0006281 9.96 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
3 DNA recombination GO:0006310 9.95 BRCA1 BRCA2 PALB2 RAD51 RAD51C SLX4
4 DNA synthesis involved in DNA repair GO:0000731 9.87 BRCA1 BRCA2 BRIP1 PALB2 RAD51 RAD51C
5 strand displacement GO:0000732 9.8 BRCA1 BRCA2 BRIP1 PALB2 RAD51 RAD51C
6 double-strand break repair GO:0006302 9.79 BRCA1 BRCA2 BRIP1
7 response to ionizing radiation GO:0010212 9.78 BRCA1 RAD51C XRCC2
8 nucleotide-excision repair GO:0006289 9.76 BRCA2 ERCC4 FANCC SLX4
9 DNA metabolic process GO:0006259 9.75 ERCC4 FANCM RAD51
10 response to gamma radiation GO:0010332 9.74 BRCA2 FANCD2 XRCC2
11 telomere maintenance via recombination GO:0000722 9.72 BRCA2 RAD51 RAD51C
12 reciprocal meiotic recombination GO:0007131 9.71 RAD51 RAD51C XRCC2
13 response to X-ray GO:0010165 9.69 BRCA2 RAD51 XRCC2
14 resolution of meiotic recombination intermediates GO:0000712 9.67 ERCC4 FANCM SLX4
15 neuronal stem cell population maintenance GO:0097150 9.65 FANCC FANCD2
16 gamete generation GO:0007276 9.65 FANCD2 FANCL
17 mitotic recombination GO:0006312 9.65 RAD51 RAD51C XRCC2
18 brain morphogenesis GO:0048854 9.64 FANCC FANCD2
19 male meiosis I GO:0007141 9.64 BRCA2 RAD51C
20 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.63 BRCA1 BRCA2
21 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.63 ERCC4 SLX4
22 inner cell mass cell proliferation GO:0001833 9.62 BRCA2 PALB2
23 protein K6-linked ubiquitination GO:0085020 9.61 BRCA1 UBE2T
24 strand invasion GO:0042148 9.61 RAD51 RAD51C XRCC2
25 regulation of regulatory T cell differentiation GO:0045589 9.6 FANCA FANCD2
26 meiotic DNA recombinase assembly GO:0000707 9.59 RAD51C XRCC2
27 chordate embryonic development GO:0043009 9.58 BRCA1 BRCA2
28 regulation of CD40 signaling pathway GO:2000348 9.56 FANCA FANCD2
29 mitotic recombination-dependent replication fork processing GO:1990426 9.52 BRCA2 RAD51
30 interstrand cross-link repair GO:0036297 9.47 ERCC4 FANCA FANCB FANCC FANCD2 FANCE
31 cellular response to DNA damage stimulus GO:0006974 10.16 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 double-stranded DNA binding GO:0003690 9.67 RAD51 RAD51C XRCC2
2 damaged DNA binding GO:0003684 9.63 BRCA1 ERCC4 FANCG
3 DNA-dependent ATPase activity GO:0008094 9.58 RAD51 RAD51C XRCC2
4 DNA polymerase binding GO:0070182 9.5 FANCD2 FANCI RAD51
5 crossover junction endodeoxyribonuclease activity GO:0008821 9.48 RAD51C SLX4
6 four-way junction DNA binding GO:0000400 9.43 RAD51 RAD51C XRCC2
7 single-stranded DNA binding GO:0003697 9.35 BRCA2 ERCC4 RAD51 RAD51C XRCC2
8 recombinase activity GO:0000150 9.33 RAD51 RAD51C XRCC2
9 endodeoxyribonuclease activity GO:0004520 8.92 ERCC4 RAD51 SLX4 XRCC2
10 protein binding GO:0005515 10.32 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
11 DNA binding GO:0003677 10.13 BRCA1 BRCA2 BRIP1 ERCC4 FANCI FANCM

Sources for Fanconi Anemia, Complementation Group a

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10 dbSNP
11 DGIdb
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