SCAN1
MCID: SPN335
MIFTS: 42

Spinocerebellar Ataxia Type 1 with Axonal Neuropathy (SCAN1)

Categories: Eye diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

MalaCards integrated aliases for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy:

Name: Spinocerebellar Ataxia Type 1 with Axonal Neuropathy 12 15
Scan1 12 20
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy-1 20
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 29
Ataxia, Spinocerebellar, Autosomal Recessive with Axonal Neuropathy 39
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 12
Spinocerebellar Ataxia with Axonal Neuropathy Type 1 20

Classifications:



Summaries for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 94124 Definition Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.

MalaCards based summary : Spinocerebellar Ataxia Type 1 with Axonal Neuropathy, also known as scan1, is related to spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 and axonal neuropathy. An important gene associated with Spinocerebellar Ataxia Type 1 with Axonal Neuropathy is TDP1 (Tyrosyl-DNA Phosphodiesterase 1), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Telomere C-strand (Lagging Strand) Synthesis. Affiliated tissues include eye, brain and breast, and related phenotypes are ataxia and areflexia

Disease Ontology : 12 A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has material basis in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11.

Related Diseases for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Diseases in the Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 family:

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3
Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Diseases related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 32.7 TOP1 TDP1
2 axonal neuropathy 30.5 TOP1 TDP1 SETX LIG3
3 autosomal dominant cerebellar ataxia 30.2 TOP1 TDP1 SETX PNKP H2AC18 APTX
4 hereditary ataxia 29.3 TOP1 TDP2 TDP1 SETX PNKP H2AC18
5 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 11.1
6 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 10.9
7 hypercholesterolemia, familial, 1 10.3
8 neuropathy 10.3
9 ataxia and polyneuropathy, adult-onset 10.2
10 ocular motor apraxia 10.2 ATM APTX
11 ataxia-oculomotor apraxia 3 10.2 TDP1 SETX APTX
12 ruijs-aalfs syndrome 10.2 TDP2 TDP1 H2AC18
13 spastic ataxia, charlevoix-saguenay type 10.2 SETX APTX
14 cataract 38 10.2 TOP1 ATM
15 crest syndrome 10.1 TOP1 H2AC18
16 choreatic disease 10.1 SETX H2AC18 APTX
17 telangiectasis 10.1 TOP1 H2AC18 ATM
18 spastic paraplegia 7, autosomal recessive 10.1 SETX APTX
19 xeroderma pigmentosum, complementation group c 10.0 XRCC1 LIG1 H2AC18
20 congenital nervous system abnormality 10.0 XRCC4 PNKP NHEJ1 H2AC18
21 omenn syndrome 10.0 XRCC4 NHEJ1 H2AC18
22 aceruloplasminemia 10.0 TDP2 SETX ATM
23 ataxia with vitamin 3 deficiency 10.0 SETX APTX
24 apraxia 9.9 XRCC1 SETX PNKP ATM APTX
25 severe combined immunodeficiency with sensitivity to ionizing radiation 9.9 XRCC4 NHEJ1 H2AC18 ATM
26 autosomal recessive cerebellar ataxia 9.9 TDP1 SETX H2AC18 ATM APTX
27 uv-sensitive syndrome 9.9 NEIL1 LIG1 H2AC18
28 xeroderma pigmentosum, complementation group d 9.9 XRCC1 LIG1 H2AC18 APEX1
29 spinocerebellar ataxia, autosomal recessive 23 9.9 TOP2A TDP2 TDP1 PNKP
30 helix syndrome 9.9
31 allergic disease 9.9
32 spinocerebellar degeneration 9.9
33 female breast cancer 9.9 XRCC1 TOP2A ATM
34 nijmegen breakage syndrome 9.8 NHEJ1 LIG1 H2AC18 ATM
35 oculomotor apraxia 9.8 XRCC4 XRCC1 SETX PNKP ATM APTX
36 cerebellar disease 9.7 TOP1 TDP1 SETX PNKP H2AC18 ATM
37 seckel syndrome 9.7 XRCC4 XRCC1 PNKP NHEJ1 H2AC18 ATM
38 bloom syndrome 9.7 LIG3 LIG1 FEN1 ATM
39 xeroderma pigmentosum, complementation group g 9.7 XRCC1 LIG1 H2AC18 FEN1 APEX1
40 ataxia-telangiectasia 9.6 XRCC1 TOP2A LIG1 ATM APTX
41 cockayne syndrome 9.5 XRCC4 TOP1 NEIL1 H2AC18 FEN1 APEX1
42 werner syndrome 9.5 TOP1 POLB FEN1 ATM
43 lig4 syndrome 9.4 XRCC4 XRCC1 TDP1 PNKP NHEJ1 LIG1
44 xeroderma pigmentosum, complementation group a 9.3 XRCC1 POLB LIG3 H2AC18 FEN1 ATM
45 fanconi anemia, complementation group a 8.8 XRCC4 XRCC1 TOP1 POLB NHEJ1 H2AC18
46 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 8.6 XRCC1 TDP1 SETX POLB PNKP NEIL1
47 xeroderma pigmentosum, variant type 8.3 XRCC4 XRCC1 TOP1 POLB NEIL1 LIG3

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy:



Diseases related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Symptoms & Phenotypes for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Human phenotypes related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 frequent (33%) HP:0001251
2 areflexia 31 frequent (33%) HP:0001284
3 hypercholesterolemia 31 frequent (33%) HP:0003124
4 pes cavus 31 frequent (33%) HP:0001761
5 hypoalbuminemia 31 frequent (33%) HP:0003073
6 steppage gait 31 frequent (33%) HP:0003376
7 impaired distal proprioception 31 frequent (33%) HP:0006858
8 distal lower limb muscle weakness 31 frequent (33%) HP:0009053
9 cerebellar vermis atrophy 31 frequent (33%) HP:0006855
10 pain insensitivity 31 frequent (33%) HP:0007021
11 distal amyotrophy 31 frequent (33%) HP:0003693
12 spinocerebellar tract degeneration 31 frequent (33%) HP:0002503
13 sensorimotor neuropathy 31 frequent (33%) HP:0007141
14 spastic dysarthria 31 frequent (33%) HP:0002464
15 global brain atrophy 31 frequent (33%) HP:0002283
16 gaze-evoked nystagmus 31 frequent (33%) HP:0000640
17 impaired vibration sensation in the lower limbs 31 frequent (33%) HP:0002166
18 seizure 31 occasional (7.5%) HP:0001250

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy according to GeneCards Suite gene sharing:

26 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.32 APEX1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.32 TOP2A
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 10.32 TOP1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-13 10.32 LIG1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-135 10.32 TOP2A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.32 TOP1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.32 TOP1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.32 TOP2A
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.32 LIG1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 10.32 LIG1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-199 10.32 APEX1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.32 TOP2A
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.32 TOP2A
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.32 LIG1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.32 APEX1 LIG1 TOP1 TOP2A
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-67 10.32 APEX1 LIG1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.32 TOP2A
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.32 LIG1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 10.32 LIG1
20 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 10.03 ATM FEN1 LIG1
21 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 10.03 ATM FEN1 LIG1 LIG3 SETX TOP2A
22 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.03 ATM LIG1 SETX TDP1 TOP2A XRCC1
23 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.96 LIG3 SETX TDP1 TOP2A XRCC1
24 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.96 ATM LIG1 LIG3 SETX TDP1 TOP2A
25 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.96 ATM FEN1 LIG1 LIG3 SETX TDP1
26 Reduced mammosphere formation GR00396-S 9.5 APEX1 ATM PNKP POLB TOP1 TOP2A

MGI Mouse Phenotypes related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 APEX1 APTX ATM FEN1 LIG1 LIG3
2 homeostasis/metabolism MP:0005376 10.09 APEX1 APTX ATM FEN1 LIG1 LIG3
3 growth/size/body region MP:0005378 10.07 APEX1 ATM FEN1 LIG1 LIG3 NEIL1
4 embryo MP:0005380 10.02 APEX1 ATM FEN1 LIG1 LIG3 NHEJ1
5 endocrine/exocrine gland MP:0005379 9.97 APEX1 ATM FEN1 LIG1 NHEJ1 POLB
6 immune system MP:0005387 9.7 APEX1 ATM FEN1 LIG1 NEIL1 NHEJ1
7 neoplasm MP:0002006 9.23 APEX1 ATM FEN1 LIG1 NEIL1 NHEJ1

Drugs & Therapeutics for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Genetic Tests for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Genetic tests related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 29

Anatomical Context for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

MalaCards organs/tissues related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy:

40
Eye, Brain, Breast, Prostate

Publications for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Articles related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Dehydroabietylamine-based thiazolidin-4-ones and 2-thioxoimidazolidin-4-ones as novel tyrosyl-DNA phosphodiesterase 1 inhibitors. 61
32833106 2020
2
Repeatability of radiomics and machine learning for DWI: Short-term repeatability study of 112 patients with prostate cancer. 61
31703155 2020
3
Identification of novel inhibitors for the tyrosyl-DNA-phosphodiesterase 1 (Tdp1) mutant SCAN1 using virtual screening. 61
31831297 2020
4
SCAN1-TDP1 trapping on mitochondrial DNA promotes mitochondrial dysfunction and mitophagy. 61
31723605 2019
5
Spinocerebellar ataxia with axonal neuropathy type 1 revisited. 61
31182267 2019
6
Prospective Study of Serial 18F-FDG PET and 18F-Fluoride PET to Predict Time to Skeletal-Related Events, Time to Progression, and Survival in Patients with Bone-Dominant Metastatic Breast Cancer. 61
29748233 2018
7
UCHL3 Regulates Topoisomerase-Induced Chromosomal Break Repair by Controlling TDP1 Proteostasis. 61
29898404 2018
8
Scan-rescan reproducibility of diastolic left ventricular kinetic energy, viscous energy loss and vorticity assessment using 4D flow MRI: analysis in healthy subjects. 61
29305740 2018
9
Subfunctionalization of duplicate MYB genes in Solanum commersonii generated the cold-induced ScAN2 and the anthocyanin regulator ScAN1. 61
28386931 2018
10
Reactive oxygen species stress increases accumulation of tyrosyl-DNA phsosphodiesterase 1 within mitochondria. 61
29523818 2018
11
Image enhancement technology in bronchoscopy: a prospective multicentre study in lung cancer. 61
29862031 2018
12
Pre-steady state kinetics of DNA binding and abasic site hydrolysis by tyrosyl-DNA phosphodiesterase 1. 61
27687298 2017
13
Longitudinal relationships among activity in attention redirection neural circuitry and symptom severity in youth. 61
28480336 2017
14
Reninoma coexisting with adrenal adenoma during pregnancy: A case report. 61
28521424 2017
15
Neurological disorders associated with DNA strand-break processing enzymes. 61
27470939 2017
16
Dysregulated human Tyrosyl-DNA phosphodiesterase I acts as cellular toxin. 61
27893431 2016
17
DNA-PK triggers histone ubiquitination and signaling in response to DNA double-strand breaks produced during the repair of transcription-blocking topoisomerase I lesions. 61
26578593 2016
18
Methadone-induced Damage to White Matter Integrity in Methadone Maintenance Patients: A Longitudinal Self-control DTI Study. 61
26794650 2016
19
Tyrosyl-DNA Phosphodiesterase I a critical survival factor for neuronal development and homeostasis. 61
27747316 2016
20
TDP1 promotes assembly of non-homologous end joining protein complexes on DNA. 61
25841101 2015
21
High definition bronchoscopy: a randomized exploratory study of diagnostic value compared to standard white light bronchoscopy and autofluorescence bronchoscopy. 61
25848883 2015
22
Tyrosyl-DNA phosphodiesterase I catalytic mutants reveal an alternative nucleophile that can catalyze substrate cleavage. 61
25609251 2015
23
Tracking the processing of damaged DNA double-strand break ends by ligation-mediated PCR: increased persistence of 3'-phosphoglycolate termini in SCAN1 cells. 61
24371269 2014
24
Expression profile and mitochondrial colocalization of Tdp1 in peripheral human tissues. 61
23536040 2013
25
A novel diagnostic tool reveals mitochondrial pathology in human diseases and aging. 61
23524341 2013
26
Tyrosyl-DNA phosphodiesterase 1 initiates repair of apurinic/apyrimidinic sites. 61
22522093 2012
27
Systems for lung volume standardization during static and dynamic MDCT-based quantitative assessment of pulmonary structure and function. 61
22555001 2012
28
Prospective, randomized, back-to-back trial evaluating the usefulness of i-SCAN in screening colonoscopy. 61
22381530 2012
29
Analysis of the active-site mechanism of tyrosyl-DNA phosphodiesterase I: a member of the phospholipase D superfamily. 61
22155078 2012
30
Tyrosyl-DNA phosphodiesterase and the repair of 3'-phosphoglycolate-terminated DNA double-strand breaks. 61
19505854 2009
31
Unrepaired oxidative DNA damage induces an ATR/ATM apoptotic-like response in quiescent fission yeast. 61
19571671 2009
32
In vitro complementation of Tdp1 deficiency indicates a stabilized enzyme-DNA adduct from tyrosyl but not glycolate lesions as a consequence of the SCAN1 mutation. 61
19211312 2009
33
Tdp1 protects against oxidative DNA damage in non-dividing fission yeast. 61
19197239 2009
34
Identification of phosphotyrosine mimetic inhibitors of human tyrosyl-DNA phosphodiesterase I by a novel AlphaScreen high-throughput assay. 61
19139134 2009
35
Tyrosyl-DNA phosphodiesterase as a target for anticancer therapy. 61
18473723 2008
36
TDP1 facilitates chromosomal single-strand break repair in neurons and is neuroprotective in vivo. 61
17914460 2007
37
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? 61
17948061 2007
38
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301284 2007
39
TDP1 facilitates repair of ionizing radiation-induced DNA single-strand breaks. 61
17600775 2007
40
Defective DNA repair and neurodegenerative disease. 61
17889645 2007
41
Mutation of a conserved active site residue converts tyrosyl-DNA phosphodiesterase I into a DNA topoisomerase I-dependent poison. 61
17707402 2007
42
DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1. 61
17045754 2007
43
Hereditary ataxia SCAN1 cells are defective for the repair of transcription-dependent topoisomerase I cleavage complexes. 61
16935573 2006
44
[Molecular genetics of inherited neuropathies]. 61
17432174 2006
45
TDP1-dependent DNA single-strand break repair and neurodegeneration. 61
16775218 2006
46
[Molecular genetics of inherited neuropathies]. 61
16541790 2006
47
SCAN1 mutant Tdp1 accumulates the enzyme--DNA intermediate and causes camptothecin hypersensitivity. 61
15920477 2005
48
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. 61
15744309 2005
49
Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1). 61
15647511 2005
50
glaikit is essential for the formation of epithelial polarity and neuronal development. 61
15556867 2004

Variations for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Expression for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Search GEO for disease gene expression data for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy.

Pathways for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Pathways related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 XRCC4 XRCC1 TDP2 TDP1 POLB PNKP
2
Show member pathways
12.6 XRCC1 TOP2A TOP1 POLB PNKP NEIL1
3
Show member pathways
12.52 XRCC4 XRCC1 POLB PNKP LIG3 LIG1
4
Show member pathways
12.08 XRCC4 TDP2 TDP1 NHEJ1 ATM
5 11.79 XRCC1 TOP2A TOP1 TDP1 PNKP NHEJ1
6 10.92 XRCC4 PNKP FEN1
7 10.77 XRCC4 ATM

GO Terms for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Cellular components related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.91 XRCC4 XRCC1 TOP2A TOP1 TDP2 TDP1
2 nucleolus GO:0005730 9.85 XRCC1 TOP2A TOP1 TDP2 SETX PNKP
3 chromosome GO:0005694 9.83 TOP1MT TOP1 SETX NEIL1 H2AC18
4 chromosome, telomeric region GO:0000781 9.65 XRCC1 SETX FEN1 ATM APEX1
5 nucleoplasm GO:0005654 9.58 XRCC4 XRCC1 TOP2A TOP1MT TOP1 TDP2
6 nuclear chromosome GO:0000228 9.54 TOP2A TOP1 SETX
7 nonhomologous end joining complex GO:0070419 9.4 XRCC4 NHEJ1
8 DNA ligase IV complex GO:0032807 9.32 XRCC4 NHEJ1

Biological processes related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 DNA recombination GO:0006310 9.91 XRCC4 SETX LIG3 LIG1 APEX1
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.88 TDP2 TDP1 PNKP FEN1 APTX APEX1
3 DNA replication GO:0006260 9.87 TOP1MT TOP1 POLB LIG3 LIG1 FEN1
4 double-strand break repair via homologous recombination GO:0000724 9.86 XRCC1 LIG3 FEN1 ATM
5 double-strand break repair via nonhomologous end joining GO:0006303 9.85 XRCC4 XRCC1 POLB NHEJ1 ATM
6 DNA repair GO:0006281 9.83 XRCC4 XRCC1 TDP2 TDP1 SETX POLB
7 transcription-coupled nucleotide-excision repair GO:0006283 9.79 XRCC1 LIG3 LIG1
8 nucleotide-excision repair, DNA gap filling GO:0006297 9.78 XRCC1 POLB LIG3 LIG1
9 DNA biosynthetic process GO:0071897 9.77 POLB LIG3 LIG1
10 double-strand break repair GO:0006302 9.76 XRCC4 TDP2 TDP1 SETX NHEJ1 LIG3
11 base-excision repair GO:0006284 9.73 XRCC1 POLB NEIL1 LIG1 FEN1 APEX1
12 V(D)J recombination GO:0033151 9.72 LIG3 LIG1 ATM
13 single strand break repair GO:0000012 9.71 XRCC1 TDP1 APTX
14 DNA topological change GO:0006265 9.7 TOP2A TOP1MT TOP1
15 DNA ligation involved in DNA repair GO:0051103 9.67 XRCC4 LIG3 LIG1
16 DNA ligation GO:0006266 9.67 TOP2A LIG3 LIG1 APTX
17 female meiotic nuclear division GO:0007143 9.61 TOP2A ATM
18 embryonic cleavage GO:0040016 9.61 TOP2A TOP1
19 base-excision repair, DNA ligation GO:0006288 9.61 XRCC1 POLB LIG3
20 positive regulation of ligase activity GO:0051351 9.6 XRCC4 NHEJ1
21 negative regulation of protein ADP-ribosylation GO:0010836 9.58 XRCC1 PNKP
22 lagging strand elongation GO:0006273 9.58 LIG3 LIG1
23 base-excision repair, base-free sugar-phosphate removal GO:0006286 9.57 POLB APEX1
24 cellular response to DNA damage stimulus GO:0006974 9.53 XRCC4 XRCC1 TOP2A TDP2 TDP1 SETX

Molecular functions related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.13 TDP2 TDP1 SETX PNKP NEIL1 FEN1
2 ATP binding GO:0005524 10.1 TOP2A TOP1 SETX PNKP LIG3 LIG1
3 DNA binding GO:0003677 9.83 XRCC4 TOP2A TOP1MT TOP1 SETX POLB
4 nuclease activity GO:0004518 9.78 TDP2 TDP1 FEN1 APEX1
5 endonuclease activity GO:0004519 9.71 PNKP FEN1 APEX1
6 single-stranded DNA binding GO:0003697 9.71 TOP1 TDP2 TDP1 APTX
7 exonuclease activity GO:0004527 9.69 TDP1 FEN1 APEX1
8 double-stranded DNA binding GO:0003690 9.65 TOP1 TDP1 PNKP FEN1 APTX
9 RNA-DNA hybrid ribonuclease activity GO:0004523 9.55 FEN1 APEX1
10 DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0003906 9.5 POLB NEIL1 APEX1
11 DNA topoisomerase type I activity GO:0003917 9.49 TOP1MT TOP1
12 DNA ligase (ATP) activity GO:0003910 9.46 LIG3 LIG1
13 DNA ligase activity GO:0003909 9.43 LIG3 LIG1
14 double-stranded DNA exodeoxyribonuclease activity GO:0008309 9.37 FEN1 APEX1
15 DNA topoisomerase activity GO:0003916 9.33 TOP2A TOP1MT TOP1
16 damaged DNA binding GO:0003684 9.17 XRCC1 POLB PNKP NEIL1 FEN1 APTX

Sources for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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