FANCO
MCID: FNC048
MIFTS: 49

Fanconi Anemia, Complementation Group O (FANCO)

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 O

MalaCards integrated aliases for Fanconi Anemia, Complementation Group O:

Name: Fanconi Anemia, Complementation Group O 56 29 6 39 71
Fanconi Anemia Complementation Group O 12 73 15
Fanco 56 12 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111096
OMIM 56 613390
OMIM Phenotypic Series 56 PS227650
MeSH 43 D005199
MedGen 41 C3150653
UMLS 71 C3150653

Summaries for Fanconi Anemia, Complementation Group O

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. (613390)

MalaCards based summary : Fanconi Anemia, Complementation Group O, also known as fanconi anemia complementation group o, is related to maternal uniparental disomy and maternal uniparental disomy of chromosome 16. An important gene associated with Fanconi Anemia, Complementation Group O is RAD51C (RAD51 Paralog C), 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 short stature and cryptorchidism

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous mutation in the RAD51C gene on chromosome 17q21-q24.

UniProtKB/Swiss-Prot : 73 Fanconi anemia complementation group O: 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 O

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 maternal uniparental disomy 10.2 SLX4 FANCA
2 maternal uniparental disomy of chromosome 16 10.2 SLX4 FANCA
3 thrombophlebitis migrans 10.1 SLX4 FANCI FANCA
4 fanconi anemia, complementation group i 10.1 FANCM FANCI FANCD2
5 interstitial nephritis, karyomegalic 10.0 SLX4 FANCI FANCD2
6 xfe progeroid syndrome 10.0 SLX4 ERCC6
7 fanconi anemia, complementation group l 10.0 FANCL FANCI FANCD2
8 tracheoesophageal fistula with or without esophageal atresia 9.9 PALB2 FANCC
9 vacterl association 9.9 FANCL FANCI FANCB
10 esophageal atresia/tracheoesophageal fistula 9.9 FANCC FANCB FANCA
11 sporadic breast cancer 9.8 RAD51C PALB2 FANCF FANCD2
12 rothmund-thomson syndrome, type 2 9.8 FANCM ERCC6
13 fanconi anemia, complementation group d2 9.7 FANCI FANCG FANCD2 FANCA
14 dyskeratosis congenita 9.7 FANCB FANCA ERCC6
15 hereditary breast ovarian cancer syndrome 9.6 RAD51C PALB2 FANCG FANCC
16 xeroderma pigmentosum, complementation group f 9.4 SLX4 FANCM FANCD2 FAAP24 ERCC6
17 fanconi anemia, complementation group c 9.2 FANCL FANCI FANCF FANCD2 FANCC FANCA
18 fanconi anemia, complementation group f 9.1 FANCG FANCF FANCE FANCD2 FANCC FANCA
19 fanconi anemia, complementation group e 9.1 FANCG FANCF FANCE FANCD2 FANCC FANCA
20 seckel syndrome 8.9 FANCM FANCI FANCE FANCD2 FANCA FAAP24
21 aplastic anemia 8.8 FANCM FANCI FANCG FANCD2 FANCC FANCA
22 esophageal atresia 8.7 SLX4 FANCM FANCL FANCI FANCE FANCD2
23 fanconi anemia, complementation group u 8.7 SLX4 RAD51C FANCM FANCL FANCI FANCF
24 fanconi anemia, complementation group b 8.7 FANCL FANCG FANCF FANCE FANCD2 FANCC
25 squamous cell carcinoma, head and neck 8.5 FANCL FANCG FANCF FANCE FANCD2 FANCC
26 xeroderma pigmentosum, variant type 8.2 SLX4 FANCM FANCI FANCG FANCD2 FANCC
27 deficiency anemia 8.2 FANCG FANCF FANCE FANCD2 FANCC FANCB
28 fanconi anemia, complementation group r 8.1 SLX4 RAD51C PALB2 FANCM FANCL FANCI
29 fanconi anemia, complementation group v 7.6 SLX4 FANCM FANCL FANCI FANCE FANCD2
30 fanconi anemia, complementation group t 7.4 SLX4 FANCM FANCL FANCI FANCG FANCF
31 fanconi anemia, complementation group q 6.9 SLX4 RAD51C PALB2 FANCM FANCL FANCI
32 fanconi anemia, complementation group p 6.3 SLX4 RAD51C PALB2 FANCM FANCL FANCI
33 fanconi anemia, complementation group j 6.3 SLX4 RAD51C PALB2 FANCM FANCL FANCI
34 fanconi anemia, complementation group n 6.2 SLX4 RAD51C PALB2 FANCM FANCL FANCI
35 congenital hypoplastic anemia 5.9 SLX4 RAD51C PALB2 FANCM FANCL FANCI
36 fanconi anemia, complementation group d1 5.9 SLX4 RAD51C PALB2 FANCM FANCL FANCI
37 fanconi anemia, complementation group a 5.9 SLX4 RAD51C PALB2 FANCM FANCL FANCI

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



Diseases related to Fanconi Anemia, Complementation Group O

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group O

Human phenotypes related to Fanconi Anemia, Complementation Group O:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 cryptorchidism 31 HP:0000028
3 renal cyst 31 HP:0000107
4 hydronephrosis 31 HP:0000126
5 anal atresia 31 HP:0002023
6 external genital hypoplasia 31 HP:0003241
7 abnormal heart morphology 31 HP:0001627
8 short thumb 31 HP:0009778
9 hypoplasia of the radius 31 HP:0002984
10 stage 5 chronic kidney disease 31 HP:0003774
11 absent thumb 31 HP:0009777
12 rectal atresia 31 HP:0025023

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Genitourinary Kidneys:
hydronephrosis
chronic renal failure
cystic kidneys

Cardiovascular Heart:
congenital heart defect

Skeletal Hands:
thumb hypoplasia
thumb aplasia
long, slim fingers

Genitourinary External Genitalia Male:
cryptorchidism
small genitalia

Abdomen Gastrointestinal:
rectal atresia
imperforate anus
duodenal web

Skeletal Limbs:
radial hypoplasia
radial anomalies

Laboratory Abnormalities:
increased chromosomal breaks in response to cross-linking agents and ionizing radiation
defect in dna repair
cellular arrest at g2 of the cell cycle

Clinical features from OMIM:

613390

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 9.73 FANCC FANCF FANCL
2 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 9.73 FANCC FANCF FANCL
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.47 ERCC6 FAAP100 FAAP24 FANCA FANCC FANCD2
4 Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation GR00242-A-4 9.33 FANCC FANCF FANCL

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 ERCC6 FANCA FANCB FANCC FANCD2 FANCE
2 endocrine/exocrine gland MP:0005379 10.03 BHLHE40 FANCA FANCB FANCC FANCD2 FANCE
3 growth/size/body region MP:0005378 9.9 BHLHE40 ERCC6 FANCA FANCB FANCD2 FANCE
4 neoplasm MP:0002006 9.43 ERCC6 FANCA FANCD2 FANCF FANCM PALB2
5 reproductive system MP:0005389 9.36 FANCA FANCB FANCC FANCD2 FANCE FANCF

Drugs & Therapeutics for Fanconi Anemia, Complementation Group O

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

Genetic Tests for Fanconi Anemia, Complementation Group O

Genetic tests related to Fanconi Anemia, Complementation Group O:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group O 29 RAD51C

Anatomical Context for Fanconi Anemia, Complementation Group O

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

40
Bone, Bone Marrow, Breast, Heart, Kidney, T Cells, Skin

Publications for Fanconi Anemia, Complementation Group O

Articles related to Fanconi Anemia, Complementation Group O:

(show all 19)
# Title Authors PMID Year
1
Mutation of the RAD51C gene in a Fanconi anemia-like disorder. 56 6
20400963 2010
2
Fanconi anemia: at the crossroads of DNA repair. 56
21568838 2011
3
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
4
Esophageal Atresia/Tracheoesophageal Fistula Overview 6
20301753 2009
5
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
6
Fanconi Anemia 6
20301575 2002
7
Correction: Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: Implications for Fanconi anemia and breast cancer susceptibility. 61
31471380 2019
8
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
9
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia. 61
29278735 2018
10
Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene. 61
27208205 2016
11
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia. 61
27279728 2016
12
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. 61
26254775 2015
13
Overexpression of Rad51C splice variants in colorectal tumors. 61
25669972 2015
14
Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. 61
24141787 2014
15
Breast cancer genes: beyond BRCA1 and BRCA2. 61
23747889 2013
16
Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. 61
23021409 2013
17
A protein prioritization approach tailored for the FA/BRCA pathway. 61
23620800 2013
18
Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma. 61
22829014 2012
19
Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility. 61
22167183 2012

Variations for Fanconi Anemia, Complementation Group O

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

6 (show top 50) (show all 471) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAD51C NM_058216.3(RAD51C):c.93del (p.Phe32fs)deletion Pathogenic 182847 rs730881942 17:56770094-56770094 17:58692733-58692733
2 RAD51C NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)duplication Pathogenic 182844 rs730881939 17:56772369-56772370 17:58695008-58695009
3 RAD51C NM_058216.3(RAD51C):c.394dup (p.Thr132fs)duplication Pathogenic 182845 rs730881940 17:56772535-56772536 17:58695174-58695175
4 RAD51C NM_058216.3(RAD51C):c.179_180CT[1] (p.Leu61fs)short repeat Pathogenic 187716 rs786203945 17:56772325-56772326 17:58694964-58694965
5 RAD51C NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter)SNV Pathogenic 185074 rs786201909 17:56780615-56780615 17:58703254-58703254
6 RAD51C NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)SNV Pathogenic 186364 rs770637624 17:56787223-56787223 17:58709862-58709862
7 RAD51C NM_058216.1(RAD51C):c.(?_-1)_(*1_?)deldeletion Pathogenic 216131
8 RAD51C NM_058216.2(RAD51C):c.(?_-1)_837+?deldeletion Pathogenic 219702 17:56770004-56787351 17:58692643-58709990
9 RAD51C NM_058216.2(RAD51C):c.572-?_*(1_?)deldeletion Pathogenic 219825 17:56780557-56811584 17:58703196-58734223
10 RAD51C NM_058216.2(RAD51C):c.572-?_*120deldeletion Pathogenic 220726 17:56780557-56811703 17:58703196-58734342
11 RAD51C NM_058216.2(RAD51C):c.706-?_*120deldeletion Pathogenic 220591 17:56787220-56811703 17:58709859-58734342
12 RAD51C NM_058216.2(RAD51C):c.966-?_1026+?deldeletion Pathogenic 219988 17:56809845-56809905 17:58732484-58732544
13 RAD51C NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)SNV Pathogenic 31556 rs387907159 17:56772543-56772543 17:58695182-58695182
14 RAD51C NM_058216.3(RAD51C):c.97_98del (p.Gln33fs)deletion Pathogenic 136163 rs587780840 17:56770101-56770102 17:58692740-58692741
15 RAD51C NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter)SNV Pathogenic 140799 rs587781287 17:56801451-56801451 17:58724090-58724090
16 RAD51C NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)SNV Pathogenic 140849 rs200293302 17:56780562-56780562 17:58703201-58703201
17 RAD51C NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter)SNV Pathogenic 141095 rs587781490 17:56774151-56774151 17:58696790-58696790
18 RAD51C NM_058216.3(RAD51C):c.186_187del (p.Gln62fs)deletion Pathogenic 141999 rs587782170 17:56772331-56772332 17:58694970-58694971
19 RAD51C NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)SNV Pathogenic 142534 rs587782528 17:56770101-56770101 17:58692740-58692740
20 RAD51C NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)SNV Pathogenic 142919 rs587782818 17:56780686-56780686 17:58703325-58703325
21 RAD51C NM_058216.3(RAD51C):c.145+1G>TSNV Pathogenic 233766 rs757128712 17:56770150-56770150 17:58692789-58692789
22 RAD51C NM_058216.3(RAD51C):c.905-2A>GSNV Pathogenic 245991 rs779582317 17:56801399-56801399 17:58724038-58724038
23 RAD51C NC_000017.10:g.(?_56798107)_(56811703_?)deldeletion Pathogenic 417480 17:56798107-56811703 17:58720746-58734342
24 RAD51C NC_000017.10:g.(?_56780557)_(56787351_?)deldeletion Pathogenic 417479 17:56780557-56787351 17:58703196-58709990
25 RAD51C NM_058216.3(RAD51C):c.851_854del (p.Asn284fs)deletion Pathogenic 409865 rs1060502605 17:56798118-56798121 17:58720757-58720760
26 RAD51C NM_058216.3(RAD51C):c.525dup (p.Cys176fs)duplication Pathogenic 409827 rs768793789 17:56774172-56774173 17:58696811-58696812
27 RAD51C NC_000017.10:g.(?_56798101)_(56801467_?)deldeletion Pathogenic 471426 17:56798101-56801467 17:58720740-58724106
28 RAD51C NC_000017.10:g.(?_56769999)_(56811589_?)deldeletion Pathogenic 471421 17:56769999-56811589 17:58692638-58734228
29 RAD51C NC_000017.10:g.(?_56769999)_(56787357_?)deldeletion Pathogenic 471420 17:56769999-56787357
30 RAD51C NM_058216.3(RAD51C):c.312T>A (p.Cys104Ter)SNV Pathogenic 487252 rs1555593715 17:56772458-56772458 17:58695097-58695097
31 RAD51C NM_058216.3(RAD51C):c.535del (p.His179fs)deletion Pathogenic 471445 rs1555594864 17:56774184-56774184 17:58696823-58696823
32 RAD51C NM_058216.3(RAD51C):c.890_899del (p.Leu297fs)deletion Pathogenic 484744 rs1555602141 17:56798156-56798165 17:58720795-58720804
33 RAD51C NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter)SNV Pathogenic 478609 rs1555593616 17:56772396-56772396 17:58695035-58695035
34 RAD51C NC_000017.10:g.(?_56798101)_(56798179_?)deldeletion Pathogenic 538800 17:56798101-56798179 17:58720740-58720818
35 RAD51C NM_058216.3(RAD51C):c.50del (p.Phe17fs)deletion Pathogenic 538780 rs1555591851 17:56770052-56770052 17:58692691-58692691
36 RAD51C NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter)SNV Pathogenic 538770 rs1555597094 17:56780574-56780574 17:58703213-58703213
37 RAD51C NM_058216.3(RAD51C):c.363_371delinsC (p.Glu122fs)indel Pathogenic 582374 rs1567786509 17:56772509-56772517 17:58695148-58695156
38 RAD51C NM_058216.3(RAD51C):c.73delinsTTC (p.Val25fs)indel Pathogenic 567160 rs1567782936 17:56770077-56770077 17:58692716-58692716
39 RAD51C NC_000017.10:g.(?_56780547)_(56780700_?)deldeletion Pathogenic 650713 17:56780547-56780700 17:58703186-58703339
40 RAD51C NC_000017.10:g.(?_56787210)_(56811593_?)deldeletion Pathogenic 584295 17:56787210-56811593 17:58709849-58734232
41 RAD51C NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter)SNV Pathogenic 575818 rs1567782755 17:56770035-56770035 17:58692674-58692674
42 RAD51C NC_000017.10:g.(?_56774048)_(56774226_?)deldeletion Pathogenic 583964 17:56774048-56774226 17:58696687-58696865
43 RAD51C NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter)SNV Pathogenic 569830 rs1567785872 17:56772345-56772345 17:58694984-58694984
44 RAD51C NM_058216.3(RAD51C):c.802C>T (p.Gln268Ter)SNV Pathogenic 629167 rs1567799818 17:56787316-56787316 17:58709955-58709955
45 RAD51C NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs)indel Pathogenic 645241 17:56774096-56774097 17:58696735-58696736
46 RAD51C NM_058216.3(RAD51C):c.52_53del (p.Pro18fs)deletion Pathogenic 653763 17:56770055-56770056 17:58692694-58692695
47 RAD51C NC_000017.10:g.(?_56769995)_(56770159_?)deldeletion Pathogenic 646951 17:56769995-56770159 17:58692634-58692798
48 RAD51C NC_000017.10:g.(?_56780547)_(56811593_?)deldeletion Pathogenic 658445 17:56780547-56811593 17:58703186-58734232
49 RAD51C NC_000017.10:g.(?_56798097)_(56811593_?)deldeletion Pathogenic 663955 17:56798097-56811593 17:58720736-58734232
50 RAD51C NC_000017.10:g.(?_56769995)_(56787361_?)deldeletion Pathogenic 651825 17:56769995-56787361 17:58692634-58710000

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

73
# Symbol AA change Variation ID SNP ID
1 RAD51C p.Arg258His VAR_064032 rs267606997

Expression for Fanconi Anemia, Complementation Group O

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

Pathways for Fanconi Anemia, Complementation Group O

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 SLX4 RAD51C PALB2 FANCM FANCL FANCI
2
Show member pathways
12.47 FANCG FANCF FANCE FANCD2 FANCC FANCA
3 11.8 SLX4 RAD51C PALB2 FANCM FANCL FANCI
4
Show member pathways
11.72 SLX4 RAD51C PALB2
5
Show member pathways
11.72 FANCL FANCG FANCF FANCE FANCD2 FANCC
6 11.16 FANCL FANCG FANCF FANCE FANCD2 FANCC

GO Terms for Fanconi Anemia, Complementation Group O

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.09 SLX4 RAD51C PALB2 FANCM FANCL FANCI
2 nucleoplasm GO:0005654 9.86 SLX4 RAD51C PALB2 FANCM FANCL FANCI
3 nuclear body GO:0016604 9.62 FANCL FANCD2 ERCC6 BHLHE40
4 Fanconi anaemia nuclear complex GO:0043240 9.32 FANCM FANCL FANCG FANCF FANCE FANCC
5 Holliday junction resolvase complex GO:0048476 9.26 SLX4 RAD51C

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 9.97 SLX4 FANCM FANCL FANCI FANCG FANCF
2 cellular response to DNA damage stimulus GO:0006974 9.86 SLX4 RAD51C PALB2 FANCM FANCL FANCI
3 DNA recombination GO:0006310 9.61 SLX4 RAD51C PALB2
4 regulation of DNA-binding transcription factor activity GO:0051090 9.54 FANCD2 FANCA
5 double-strand break repair via homologous recombination GO:0000724 9.54 SLX4 RAD51C PALB2
6 DNA repair GO:0006281 9.53 SLX4 RAD51C PALB2 FANCM FANCL FANCI
7 response to gamma radiation GO:0010332 9.52 FANCD2 ERCC6
8 neuronal stem cell population maintenance GO:0097150 9.51 FANCD2 FANCC
9 brain morphogenesis GO:0048854 9.49 FANCD2 FANCC
10 resolution of meiotic recombination intermediates GO:0000712 9.48 SLX4 FANCM
11 regulation of regulatory T cell differentiation GO:0045589 9.46 FANCD2 FANCA
12 gamete generation GO:0007276 9.43 FANCL FANCD2 FANCC
13 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.4 FANCB ERCC6
14 regulation of CD40 signaling pathway GO:2000348 9.32 FANCD2 FANCA

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.76 RAD51C PALB2 FANCM FANCI FAAP24 FAAP100
2 protein binding GO:0005515 9.53 SLX4 RAD51C PALB2 FANCM FANCL FANCI
3 DNA polymerase binding GO:0070182 9.26 FANCI FANCD2
4 crossover junction endodeoxyribonuclease activity GO:0008821 8.96 SLX4 RAD51C

Sources for Fanconi Anemia, Complementation Group O

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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