FANCE
MCID: FNC043
MIFTS: 54

Fanconi Anemia, Complementation Group E (FANCE)

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

Aliases & Classifications for Fanconi Anemia, Complementation Group E

MalaCards integrated aliases for Fanconi Anemia, Complementation Group E:

Name: Fanconi Anemia, Complementation Group E 57 29 13 6 40 73
Fanconi Anemia Complementation Group E 12 75 15
Fance 57 12 75
Abnormality of the Face 29 6
Faces Syndrome 76 53
Face 57 12
Facial Features , Anorexia, Cachexia, Eye and Skin Anomalies 53
Friedman-Goodman Syndrome 53
Friedman Goodman Syndrome 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



Summaries for Fanconi Anemia, Complementation Group E

UniProtKB/Swiss-Prot : 75 Fanconi anemia complementation group E: 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.

MalaCards based summary : Fanconi Anemia, Complementation Group E, also known as fanconi anemia complementation group e, is related to squamous cell carcinoma, head and neck and fanconi anemia, complementation group r, and has symptoms including anemic pallor An important gene associated with Fanconi Anemia, Complementation Group E is FANCE (FA Complementation Group E), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Formation of HIV-1 elongation complex containing HIV-1 Tat. The drugs Arzerra and Avastin have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are intellectual disability and hearing impairment

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous mutation in the FANCE gene on chromosome 6p22-p21.

NIH Rare Diseases : 53 FACES syndrome, also known as Friedman-Goodman syndrome, is a condition that is characterized by unique Facial features, Anorexia, Cachexia (body wasting) and Eye and Skin lesions. The pattern of inheritance and underlying genetic cause of FACES syndrome has not yet been established. FACES syndrome has only been reported in three members of the same family.

OMIM : 57 Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (600901)

Wikipedia : 76 FACES syndrome is a syndrome of unique facial features, anorexia, cachexia, eye and skin... more...

Related Diseases for Fanconi Anemia, Complementation Group E

Diseases in the Fanconi Anemia, Complementation Group E family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group F
Fanconi Anemia, Complementation Group D1

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

(show top 50) (show all 1900)
# Related Disease Score Top Affiliating Genes
1 squamous cell carcinoma, head and neck 31.2 FANCA FANCC FANCE FANCF
2 fanconi anemia, complementation group r 31.1 BRCA1 FANCD2 FANCE FANCI
3 fanconi anemia, complementation group q 30.8 BRCA1 FANCA FANCD2 FANCE FANCI
4 fanconi anemia, complementation group b 30.8 FANCA FANCC FANCD2 FANCE FANCF FANCG
5 fanconi anemia, complementation group d1 30.8 FANCA FANCC FANCD2 FANCE FANCF FANCG
6 fanconi anemia, complementation group t 30.8 BRCA1 FANCA FANCD2 FANCE FANCI
7 congenital hypoplastic anemia 30.4 FANCA FANCC FANCD2 FANCE FANCF FANCG
8 deficiency anemia 28.5 FANCA FANCC FANCD2 FANCG
9 fanconi anemia, complementation group a 28.5 BRCA1 FANCA FANCC FANCD2 FANCE FANCF
10 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.3
11 arthrogryposis multiplex congenita whistling face 12.2
12 whistling face syndrome, recessive form 12.2
13 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 12.1
14 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 12.0
15 hemangiomas, cavernous, of face and supraumbilical midline raphe 12.0
16 mental retardation, microcephaly, epilepsy, and coarse face 11.9
17 cavernous hemangioma of face 11.9
18 brachydactyly small stature face anomalies 11.9
19 coarse face hypotonia constipation 11.9
20 short limbs abnormal face congenital heart disease 11.9
21 short stature dysmorphic face pelvic scapula dysplasia 11.9
22 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 11.9
23 arthrogryposis, distal, type 2a 11.9
24 frontonasal dysplasia 1 11.9
25 robinow syndrome 11.7
26 fountain syndrome 11.7
27 robinow syndrome, autosomal dominant 1 11.7
28 digeorge syndrome 11.7
29 fanconi anemia, complementation group s 11.6
30 crisponi/cold-induced sweating syndrome 1 11.6
31 sonoda syndrome 11.5
32 prosopagnosia 11.5
33 prosopagnosia, hereditary 11.5
34 phace syndrome 11.5
35 three m syndrome 1 11.5
36 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 11.5
37 langerhans cell histiocytosis 11.5
38 fryns syndrome 11.5
39 floating-harbor syndrome 11.4
40 trigeminal neuralgia 11.4
41 battaglia-neri syndrome 11.3
42 trichostasis spinulosa 11.3
43 crouzon syndrome 11.3
44 treacher collins syndrome 1 11.2
45 hemifacial microsomia 11.2
46 rosacea 11.2
47 facial infiltrating lipomatosis 11.2
48 conotruncal heart malformations 11.2
49 facial dermoid cyst 11.2
50 hemifacial spasm 11.2

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



Diseases related to Fanconi Anemia, Complementation Group E

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group E

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
microphthalmia

Genitourinary Kidneys:
horseshoe kidney
duplicated collecting system
renal ectopia
absent kidney
kidney malformation
more
Cardiovascular Heart:
congenital heart defect

Skin Nails Hair Skin:
hyperpigmentation
cafe-au-lait spots
anemic pallor
bruisability
pigmentary changes

Growth Weight:
low birth weight

Neurologic Central Nervous System:
psychomotor retardation

Laboratory Abnormalities:
deficient excision of uv-induced pyrimidine dimers in dna
prolonged g2 phase of cell cycle
multiple chromosomal breaks. chromosomal breakage induced by diepoxybutane (deb), and mitomycin c

Hematology:
anemia
pancytopenia
thrombocytopenia
neutropenia
leukemia
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Endocrine Features:
hypergonadotropic hypogonadism

Head And Neck Ears:
deafness
ear anomaly

Skeletal Limbs:
radial aplasia

Growth Height:
small stature

Skeletal Hands:
thumb hypoplasia
thumb deformity
thumb aplasia
duplicated thumb


Clinical features from OMIM:

600901

Human phenotypes related to Fanconi Anemia, Complementation Group E:

32 (show all 33)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 hearing impairment 32 HP:0000365
3 global developmental delay 32 HP:0001263
4 microcephaly 32 HP:0000252
5 short stature 32 HP:0004322
6 anemia 32 HP:0001903
7 pancytopenia 32 HP:0001876
8 ectopic kidney 32 HP:0000086
9 strabismus 32 HP:0000486
10 cryptorchidism 32 HP:0000028
11 horseshoe kidney 32 HP:0000085
12 thrombocytopenia 32 HP:0001873
13 microphthalmia 32 HP:0000568
14 hypergonadotropic hypogonadism 32 HP:0000815
15 neutropenia 32 HP:0001875
16 bruising susceptibility 32 HP:0000978
17 abnormality of skin pigmentation 32 HP:0001000
18 complete duplication of thumb phalanx 32 HP:0009943
19 abnormality of cardiovascular system morphology 32 HP:0030680
20 renal agenesis 32 HP:0000104
21 cafe-au-lait spot 32 HP:0000957
22 absent radius 32 HP:0003974
23 small for gestational age 32 HP:0001518
24 abnormal heart morphology 32 HP:0001627
25 short thumb 32 HP:0009778
26 leukemia 32 HP:0001909
27 duplicated collecting system 32 HP:0000081
28 absent thumb 32 HP:0009777
29 reticulocytopenia 32 HP:0001896
30 anemic pallor 32 HP:0001017
31 deficient excision of uv-induced pyrimidine dimers in dna 32 HP:0003213
32 prolonged g2 phase of cell cycle 32 HP:0003214
33 chromosomal breakage induced by crosslinking agents 32 HP:0003221

UMLS symptoms related to Fanconi Anemia, Complementation Group E:


anemic pallor

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group E 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 9.23 BRCA1 FANCA FANCC FANCD2 FANCE FANCF

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.73 BRCA1 FANCA FANCC FANCD2 FANCF FANCG
2 endocrine/exocrine gland MP:0005379 9.63 BRCA1 FANCA FANCC FANCD2 FANCF FANCG
3 neoplasm MP:0002006 9.26 BRCA1 FANCA FANCD2 FANCF
4 reproductive system MP:0005389 9.1 BRCA1 FANCA FANCC FANCD2 FANCF FANCG

Drugs & Therapeutics for Fanconi Anemia, Complementation Group E

FDA approved drugs:

(show all 23)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Arzerra 18 49 OFATUMUMAB GlaxoSmithKline October 2009
2
Avastin 18 49 BEVACIZUMAB Genentech July 2009
3
Bexxar 18 49 TOSITUMOMAB; IODINE I 131 TOSITUMOMAB Corixa June 2003
4
Blincyto 18 49 BLINATUMOMAB Amgen December 2014
5
Campath 18 49 ALEMTUZUMAB Berlex Laboratories May 2001
6
Gazyva 18 49 OBINUTUZUMAB Genentech October of 2013
7
Herceptin 18 49 TRASTUZUMAB Genentech October 1998
8
Imbruvica 18 49 IBRUTINIB Pharmacyclics November of 2013/February 2014
9
Intron A 18 49 INTERFERON ALFA-2B Schering-Plough December 1997/ December 1995/ March 1997
10
Iressa 18 49 GEFITINIB AstraZeneca May 2003
11
Ixempra 18 49 IXABEPILONE Bristol-Myers Squibb October 2007
12
Jevtana 18 49 CABAZITAXEL sanofi aventis June 2010
13
Mylotarg 18 49 GEMTUZUMAB OZOGAMICIN Wyeth May 2000
14
Neulasta 18 PEGFILGRASTIM Amgen January 2002
15
Picato gel 18 INGENOL MEBUTATE LEO Pharma January 2012
16
Sensipar 18 CINACALCET HYDROCHLORIDE Amgen March 2004
17
Unituxin 18 49 DINUTUXIMAB United Therapeutics March 2015
18
Xgeva 18 49 DENOSUMAB Amgen June 2013/ November 2010
19
Zevalin 18 49 IBRITUMOMAB TIUXETAN Biogen IDEC February 2002
20
Kalydeco 18 IVACAFTOR Vertex Pharmaceuticals January of 2012
21
Nucala 18 MEPOLIZUMAB GlaxoSmithKline November 2015
22
Orkambi 18 IVACAFTOR; LUMACAFTOR Vertex Pharmaceuticals July 2015
23
Xolair 18 OMALIZUMAB Genentech June 2003

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

Genetic Tests for Fanconi Anemia, Complementation Group E

Genetic tests related to Fanconi Anemia, Complementation Group E:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group E 29 FANCE
2 Abnormality of the Face 29

Anatomical Context for Fanconi Anemia, Complementation Group E

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

41
Skin, Eye, Bone, Bone Marrow, Kidney, Heart, B Cells

Publications for Fanconi Anemia, Complementation Group E

Articles related to Fanconi Anemia, Complementation Group E:

# Title Authors Year
1
Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient. ( 9147877 )
1996

Variations for Fanconi Anemia, Complementation Group E

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

6 (show top 50) (show all 152)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCE NM_021922.2(FANCE): c.355C> T (p.Gln119Ter) single nucleotide variant Pathogenic rs121434505 GRCh37 Chromosome 6, 35423630: 35423630
2 FANCE NM_021922.2(FANCE): c.355C> T (p.Gln119Ter) single nucleotide variant Pathogenic rs121434505 GRCh38 Chromosome 6, 35455853: 35455853
3 FANCE NM_021922.2(FANCE): c.421C> T (p.Arg141Ter) single nucleotide variant Pathogenic rs121434506 GRCh37 Chromosome 6, 35423696: 35423696
4 FANCE NM_021922.2(FANCE): c.421C> T (p.Arg141Ter) single nucleotide variant Pathogenic rs121434506 GRCh38 Chromosome 6, 35455919: 35455919
5 FANCE NG_011708.1: g.11963G> A single nucleotide variant Pathogenic rs878854342 GRCh37 Chromosome 6, 35427100: 35427100
6 FANCE NG_011708.1: g.11963G> A single nucleotide variant Pathogenic rs878854342 GRCh38 Chromosome 6, 35459323: 35459323
7 FANCE NM_021922.2(FANCE): c.229C> A (p.Pro77Thr) single nucleotide variant Uncertain significance rs587778335 GRCh37 Chromosome 6, 35420551: 35420551
8 FANCE NM_021922.2(FANCE): c.229C> A (p.Pro77Thr) single nucleotide variant Uncertain significance rs587778335 GRCh38 Chromosome 6, 35452774: 35452774
9 FANCE NM_021922.2(FANCE): c.52C> T (p.Pro18Ser) single nucleotide variant Uncertain significance rs552241929 GRCh37 Chromosome 6, 35420374: 35420374
10 FANCE NM_021922.2(FANCE): c.52C> T (p.Pro18Ser) single nucleotide variant Uncertain significance rs552241929 GRCh38 Chromosome 6, 35452597: 35452597
11 FANCE NM_021922.2(FANCE): c.611C> T (p.Ser204Leu) single nucleotide variant Benign/Likely benign rs7761870 GRCh37 Chromosome 6, 35423886: 35423886
12 FANCE NM_021922.2(FANCE): c.611C> T (p.Ser204Leu) single nucleotide variant Benign/Likely benign rs7761870 GRCh38 Chromosome 6, 35456109: 35456109
13 FANCE NM_021922.2(FANCE): c.266G> T (p.Arg89Leu) single nucleotide variant Benign/Likely benign rs45600543 GRCh37 Chromosome 6, 35423541: 35423541
14 FANCE NM_021922.2(FANCE): c.266G> T (p.Arg89Leu) single nucleotide variant Benign/Likely benign rs45600543 GRCh38 Chromosome 6, 35455764: 35455764
15 FANCE NM_021922.2(FANCE): c.929C> A (p.Pro310Gln) single nucleotide variant Uncertain significance rs139600847 GRCh37 Chromosome 6, 35425721: 35425721
16 FANCE NM_021922.2(FANCE): c.929C> A (p.Pro310Gln) single nucleotide variant Uncertain significance rs139600847 GRCh38 Chromosome 6, 35457944: 35457944
17 FANCE NM_021922.2(FANCE): c.1018G> C (p.Gly340Arg) single nucleotide variant Uncertain significance rs45524646 GRCh37 Chromosome 6, 35426122: 35426122
18 FANCE NM_021922.2(FANCE): c.1018G> C (p.Gly340Arg) single nucleotide variant Uncertain significance rs45524646 GRCh38 Chromosome 6, 35458345: 35458345
19 FANCE NM_021922.2(FANCE): c.1028G> A (p.Arg343Gln) single nucleotide variant Benign rs45467798 GRCh37 Chromosome 6, 35426132: 35426132
20 FANCE NM_021922.2(FANCE): c.1028G> A (p.Arg343Gln) single nucleotide variant Benign rs45467798 GRCh38 Chromosome 6, 35458355: 35458355
21 FANCE NM_021922.2(FANCE): c.1141C> T (p.Arg381Cys) single nucleotide variant Uncertain significance rs371020401 GRCh37 Chromosome 6, 35427135: 35427135
22 FANCE NM_021922.2(FANCE): c.1141C> T (p.Arg381Cys) single nucleotide variant Uncertain significance rs371020401 GRCh38 Chromosome 6, 35459358: 35459358
23 FANCE NM_021922.2(FANCE): c.1333C> T (p.Pro445Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141551053 GRCh37 Chromosome 6, 35428345: 35428345
24 FANCE NM_021922.2(FANCE): c.1333C> T (p.Pro445Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141551053 GRCh38 Chromosome 6, 35460568: 35460568
25 FANCE NM_021922.2(FANCE): c.1509C> T (p.Asn503=) single nucleotide variant Likely benign rs147166240 GRCh37 Chromosome 6, 35430691: 35430691
26 FANCE NM_021922.2(FANCE): c.1509C> T (p.Asn503=) single nucleotide variant Likely benign rs147166240 GRCh38 Chromosome 6, 35462914: 35462914
27 FANCE NM_021922.2(FANCE): c.736_738delGGA (p.Gly246del) deletion Benign/Likely benign rs45451605 GRCh38 Chromosome 6, 35456234: 35456236
28 FANCE NM_021922.2(FANCE): c.736_738delGGA (p.Gly246del) deletion Benign/Likely benign rs45451605 GRCh37 Chromosome 6, 35424011: 35424013
29 FANCE NM_021922.2(FANCE): c.1572G> A (p.Arg524=) single nucleotide variant Conflicting interpretations of pathogenicity rs115195341 GRCh38 Chromosome 6, 35466306: 35466306
30 FANCE NM_021922.2(FANCE): c.1572G> A (p.Arg524=) single nucleotide variant Conflicting interpretations of pathogenicity rs115195341 GRCh37 Chromosome 6, 35434083: 35434083
31 FANCE NM_021922.2(FANCE): c.598C> T (p.Arg200Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs763151358 GRCh38 Chromosome 6, 35456096: 35456096
32 FANCE NM_021922.2(FANCE): c.598C> T (p.Arg200Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs763151358 GRCh37 Chromosome 6, 35423873: 35423873
33 FANCE NM_021922.2(FANCE): c.1057C> G (p.Pro353Ala) single nucleotide variant Uncertain significance rs878855070 GRCh38 Chromosome 6, 35458384: 35458384
34 FANCE NM_021922.2(FANCE): c.1057C> G (p.Pro353Ala) single nucleotide variant Uncertain significance rs878855070 GRCh37 Chromosome 6, 35426161: 35426161
35 FANCE NM_021922.2(FANCE): c.1459A> G (p.Met487Val) single nucleotide variant Uncertain significance rs373735272 GRCh37 Chromosome 6, 35430641: 35430641
36 FANCE NM_021922.2(FANCE): c.1459A> G (p.Met487Val) single nucleotide variant Uncertain significance rs373735272 GRCh38 Chromosome 6, 35462864: 35462864
37 FANCE NM_021922.2(FANCE): c.1071C> T (p.Leu357=) single nucleotide variant Benign/Likely benign rs3823434 GRCh37 Chromosome 6, 35426175: 35426175
38 FANCE NM_021922.2(FANCE): c.1071C> T (p.Leu357=) single nucleotide variant Benign/Likely benign rs3823434 GRCh38 Chromosome 6, 35458398: 35458398
39 FANCE NM_021922.2(FANCE): c.253C> T (p.Pro85Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145068586 GRCh38 Chromosome 6, 35455751: 35455751
40 FANCE NM_021922.2(FANCE): c.253C> T (p.Pro85Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145068586 GRCh37 Chromosome 6, 35423528: 35423528
41 FANCE NM_021922.2(FANCE): c.1424A> G (p.Lys475Arg) single nucleotide variant Uncertain significance rs200083899 GRCh37 Chromosome 6, 35430606: 35430606
42 FANCE NM_021922.2(FANCE): c.1424A> G (p.Lys475Arg) single nucleotide variant Uncertain significance rs200083899 GRCh38 Chromosome 6, 35462829: 35462829
43 FANCE NM_021922.2(FANCE): c.4G> C (p.Ala2Pro) single nucleotide variant Uncertain significance rs886061327 GRCh38 Chromosome 6, 35452549: 35452549
44 FANCE NM_021922.2(FANCE): c.4G> C (p.Ala2Pro) single nucleotide variant Uncertain significance rs886061327 GRCh37 Chromosome 6, 35420326: 35420326
45 FANCE NM_021922.2(FANCE): c.248+7C> A single nucleotide variant Benign/Likely benign rs186563531 GRCh38 Chromosome 6, 35452800: 35452800
46 FANCE NM_021922.2(FANCE): c.248+7C> A single nucleotide variant Benign/Likely benign rs186563531 GRCh37 Chromosome 6, 35420577: 35420577
47 FANCE NM_021922.2(FANCE): c.214C> T (p.Pro72Ser) single nucleotide variant Uncertain significance rs890865684 GRCh38 Chromosome 6, 35452759: 35452759
48 FANCE NM_021922.2(FANCE): c.214C> T (p.Pro72Ser) single nucleotide variant Uncertain significance rs890865684 GRCh37 Chromosome 6, 35420536: 35420536
49 FANCE NM_021922.2(FANCE): c.1383+10C> T single nucleotide variant Likely benign rs1060504374 GRCh37 Chromosome 6, 35428405: 35428405
50 FANCE NM_021922.2(FANCE): c.1383+10C> T single nucleotide variant Likely benign rs1060504374 GRCh38 Chromosome 6, 35460628: 35460628

Expression for Fanconi Anemia, Complementation Group E

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

Pathways for Fanconi Anemia, Complementation Group E

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 BRCA1 FANCA FANCC FANCD2 FANCE FANCF
2
Show member pathways
12.84 BRCA1 FANCC FANCD2 FANCI
3
Show member pathways
12.49 BRCA1 FANCC FANCD2 FANCI
4
Show member pathways
12.41 BRCA1 FANCA FANCC FANCD2 FANCE FANCF
5 12.05 BRCA1 FANCA FANCD2
6 11.73 BRCA1 FANCA FANCC FANCD2 FANCE FANCF
7
Show member pathways
11.42 BRCA1 FANCD2
8
Show member pathways
11.09 BRCA1 FANCA FANCC FANCD2 FANCE FANCF
9 11.08 BRCA1 FANCD2
10 10.96 BRCA1 FANCA FANCC FANCD2 FANCE FANCF

GO Terms for Fanconi Anemia, Complementation Group E

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.76 BRCA1 FANCA FANCC FANCD2 FANCE FANCF
2 nucleoplasm GO:0005654 9.56 BRCA1 FANCA FANCC FANCD2 FANCE FANCF
3 condensed chromosome GO:0000793 9.26 BRCA1 FANCD2
4 Fanconi anaemia nuclear complex GO:0043240 9.02 FANCA FANCC FANCE FANCF FANCG

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.76 BRCA1 FANCA FANCC FANCD2 FANCE FANCF
2 DNA repair GO:0006281 9.56 BRCA1 FANCA FANCC FANCD2 FANCE FANCF
3 cellular response to oxidative stress GO:0034599 9.52 FANCC FANCD2
4 regulation of inflammatory response GO:0050727 9.51 FANCA FANCD2
5 positive regulation of protein ubiquitination GO:0031398 9.49 BRCA1 FANCI
6 ovarian follicle development GO:0001541 9.48 FANCF FANCG
7 regulation of DNA-binding transcription factor activity GO:0051090 9.46 FANCA FANCD2
8 neuronal stem cell population maintenance GO:0097150 9.43 FANCC FANCD2
9 brain morphogenesis GO:0048854 9.4 FANCC FANCD2
10 gamete generation GO:0007276 9.37 FANCC FANCD2
11 regulation of regulatory T cell differentiation GO:0045589 9.32 FANCA FANCD2
12 regulation of CD40 signaling pathway GO:2000348 9.26 FANCA FANCD2
13 interstrand cross-link repair GO:0036297 9.17 FANCA FANCC FANCD2 FANCE FANCF FANCG

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

# Name GO ID Score Top Affiliating Genes
1 damaged DNA binding GO:0003684 8.96 BRCA1 FANCG
2 DNA polymerase binding GO:0070182 8.62 FANCD2 FANCI

Sources for Fanconi Anemia, Complementation Group E

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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