ATLD1
MCID: ATX040
MIFTS: 45

Ataxia-Telangiectasia-Like Disorder 1 (ATLD1)

Categories: Blood diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Ataxia-Telangiectasia-Like Disorder 1

MalaCards integrated aliases for Ataxia-Telangiectasia-Like Disorder 1:

Name: Ataxia-Telangiectasia-Like Disorder 1 57 75 29 6 73
Ataxia-Telangiectasia-Like Disorder 59 75 29 13 55 40
Atld 57 59 75
Atld1 57 75

Characteristics:

Orphanet epidemiological data:

59
ataxia-telangiectasia-like disorder
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in early childhood


HPO:

32
ataxia-telangiectasia-like disorder 1:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ataxia-Telangiectasia-Like Disorder 1

OMIM : 57 Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. The disorder shares some phenotypic features of ataxia-telangiectasia (AT; 208900), but telangiectases and immune deficiency are not present in ATLD1 (summary by Hernandez et al., 1993 and Stewart et al., 1999). (604391)

MalaCards based summary : Ataxia-Telangiectasia-Like Disorder 1, also known as ataxia-telangiectasia-like disorder, is related to ataxia-telangiectasia and ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, and has symptoms including gait ataxia and dysdiadochokinesis. An important gene associated with Ataxia-Telangiectasia-Like Disorder 1 is MRE11 (MRE11 Homolog, Double Strand Break Repair Nuclease), and among its related pathways/superpathways are DNA Damage Response and DNA Double Strand Break Response. Affiliated tissues include eye, skin and lung, and related phenotypes are dysarthria and chorea

UniProtKB/Swiss-Prot : 75 Ataxia-telangiectasia-like disorder 1: A rare disorder characterized by progressive cerebellar ataxia, dysarthria, abnormal eye movements, and absence of telangiectasia. ATLD patients show normal levels of total IgG, IgA and IgM, although there may be reduced levels of specific functional antibodies. At the cellular level, ATLD exhibits hypersensitivity to ionizing radiation and radioresistant DNA synthesis.

Related Diseases for Ataxia-Telangiectasia-Like Disorder 1

Diseases in the Ataxia-Telangiectasia family:

Ataxia-Telangiectasia-Like Disorder 1 Ataxia-Telangiectasia-Like Disorder 2

Diseases related to Ataxia-Telangiectasia-Like Disorder 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia 30.1 MRE11 NBN
2 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.3
3 ataxia-telangiectasia-like disorder 2 11.1
4 ataxia and polyneuropathy, adult-onset 10.1
5 lung cancer susceptibility 3 10.1
6 telangiectasis 10.1
7 hypogonadism 10.1
8 adenocarcinoma 10.1
9 cerebellar degeneration 10.1
10 alpha-thalassemia/mental retardation syndrome, x-linked 9.9 MRE11 NBN
11 nijmegen breakage syndrome 9.9 MRE11 NBN
12 hereditary breast ovarian cancer syndrome 9.9 MRE11 NBN
13 werner syndrome 9.9 MRE11 NBN
14 fanconi anemia, complementation group a 9.8 MRE11 NBN

Graphical network of the top 20 diseases related to Ataxia-Telangiectasia-Like Disorder 1:



Diseases related to Ataxia-Telangiectasia-Like Disorder 1

Symptoms & Phenotypes for Ataxia-Telangiectasia-Like Disorder 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
chorea
gait ataxia
dystonia
dysdiadochokinesis
more
Head And Neck Eyes:
oculomotor apraxia
hypometric saccades
impaired smooth pursuit
gaze-evoked nystagmus

Laboratory Abnormalities:
cells show increased sensitivity to ionizing radiation
defective dna repair
chromosomal instability

Neurologic Peripheral Nervous System:
hyporeflexia

Muscle Soft Tissue:
distal muscle wasting, mild


Clinical features from OMIM:

604391

Human phenotypes related to Ataxia-Telangiectasia-Like Disorder 1:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
2 chorea 59 32 frequent (33%) Frequent (79-30%) HP:0002072
3 delayed speech and language development 59 32 occasional (7.5%) Occasional (29-5%) HP:0000750
4 short stature 59 32 very rare (1%) Very rare (<4-1%) HP:0004322
5 myoclonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001336
6 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
7 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
8 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
9 intention tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002080
10 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
11 mask-like facies 59 32 frequent (33%) Frequent (79-30%) HP:0000298
12 joint laxity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001388
13 hypergonadotropic hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000815
14 dysdiadochokinesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002075
15 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
16 sensorimotor neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007141
17 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
18 oculomotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000657
19 frequent falls 59 32 occasional (7.5%) Occasional (29-5%) HP:0002359
20 cerebellar vermis hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001320
21 drooling 59 32 occasional (7.5%) Occasional (29-5%) HP:0002307
22 slow saccadic eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0000514
23 absent achilles reflex 59 32 frequent (33%) Frequent (79-30%) HP:0003438
24 hyperactive deep tendon reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0006801
25 orofacial dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002310
26 abnormality of ocular smooth pursuit 59 32 occasional (7.5%) Occasional (29-5%) HP:0000617
27 gaze-evoked nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000640
28 vertical nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0010544
29 small posterior fossa 59 32 occasional (7.5%) Occasional (29-5%) HP:0040010
30 dilated fourth ventricle 59 32 frequent (33%) Frequent (79-30%) HP:0002198
31 enlarged interhemispheric fissure 59 32 frequent (33%) Frequent (79-30%) HP:0100953
32 dysmetric saccades 59 32 occasional (7.5%) Occasional (29-5%) HP:0000641
33 ataxia 59 Very frequent (99-80%)
34 reduced tendon reflexes 59 Frequent (79-30%)
35 hyporeflexia 32 HP:0001265
36 lower limb spasticity 32 HP:0002061
37 distal amyotrophy 32 HP:0003693
38 hypometric saccades 32 HP:0000571
39 increased sensitivity to ionizing radiation 32 HP:0011133
40 telangiectasia 32 HP:0001009
41 impaired smooth pursuit 32 HP:0007772

UMLS symptoms related to Ataxia-Telangiectasia-Like Disorder 1:


gait ataxia, dysdiadochokinesis

Drugs & Therapeutics for Ataxia-Telangiectasia-Like Disorder 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Ataxia-Telangiectasia-Like Disorder 1

Genetic Tests for Ataxia-Telangiectasia-Like Disorder 1

Genetic tests related to Ataxia-Telangiectasia-Like Disorder 1:

# Genetic test Affiliating Genes
1 Ataxia-Telangiectasia-Like Disorder 1 29 MRE11
2 Ataxia-Telangiectasia-Like Disorder 29

Anatomical Context for Ataxia-Telangiectasia-Like Disorder 1

MalaCards organs/tissues related to Ataxia-Telangiectasia-Like Disorder 1:

41
Eye, Skin, Lung, Neutrophil, Breast

Publications for Ataxia-Telangiectasia-Like Disorder 1

Articles related to Ataxia-Telangiectasia-Like Disorder 1:

(show all 13)
# Title Authors Year
1
Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. ( 29170652 )
2017
2
Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues? ( 24733832 )
2014
3
Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder. ( 23436002 )
2013
4
Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. ( 20087742 )
2010
5
Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. ( 19732584 )
2009
6
Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. ( 18652530 )
2008
7
Ophthalmic features of ataxia telangiectasia-like disorder. ( 18083591 )
2008
8
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. ( 15574463 )
2005
9
Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. ( 15279810 )
2004
10
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. ( 15269180 )
2004
11
Regulation of Mre11/Rad50 by Nbs1: effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes. ( 12966088 )
2003
12
Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder. ( 11481721 )
2001
13
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. ( 10612394 )
1999

Variations for Ataxia-Telangiectasia-Like Disorder 1

UniProtKB/Swiss-Prot genetic disease variations for Ataxia-Telangiectasia-Like Disorder 1:

75
# Symbol AA change Variation ID SNP ID
1 MRE11 p.Asn117Ser VAR_008513 rs137852760

ClinVar genetic disease variations for Ataxia-Telangiectasia-Like Disorder 1:

6 (show top 50) (show all 513)
# Gene Variation Type Significance SNP ID Assembly Location
1 MRE11 NM_005591.3(MRE11): c.1897C> T (p.Arg633Ter) single nucleotide variant Pathogenic rs137852759 GRCh37 Chromosome 11, 94170372: 94170372
2 MRE11 NM_005591.3(MRE11): c.1897C> T (p.Arg633Ter) single nucleotide variant Pathogenic rs137852759 GRCh38 Chromosome 11, 94437206: 94437206
3 MRE11 NM_005591.3(MRE11): c.350A> G (p.Asn117Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs137852760 GRCh37 Chromosome 11, 94212892: 94212892
4 MRE11 NM_005591.3(MRE11): c.350A> G (p.Asn117Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs137852760 GRCh38 Chromosome 11, 94479726: 94479726
5 MRE11 NM_005591.3(MRE11): c.1714C> T (p.Arg572Ter) single nucleotide variant Pathogenic rs137852761 GRCh37 Chromosome 11, 94180454: 94180454
6 MRE11 NM_005591.3(MRE11): c.1714C> T (p.Arg572Ter) single nucleotide variant Pathogenic rs137852761 GRCh38 Chromosome 11, 94447288: 94447288
7 MRE11 NM_005591.3(MRE11): c.1442C> A (p.Thr481Lys) single nucleotide variant Pathogenic rs137852762 GRCh37 Chromosome 11, 94192632: 94192632
8 MRE11 NM_005591.3(MRE11): c.1442C> A (p.Thr481Lys) single nucleotide variant Pathogenic rs137852762 GRCh38 Chromosome 11, 94459466: 94459466
9 MRE11 NM_005591.3(MRE11): c.630G> C (p.Trp210Cys) single nucleotide variant Pathogenic rs137852763 GRCh37 Chromosome 11, 94209484: 94209484
10 MRE11 NM_005591.3(MRE11): c.630G> C (p.Trp210Cys) single nucleotide variant Pathogenic rs137852763 GRCh38 Chromosome 11, 94476318: 94476318
11 MRE11 NM_005591.3(MRE11): c.*1933G> T single nucleotide variant Uncertain significance rs104895004 GRCh38 Chromosome 11, 94418192: 94418192
12 MRE11 NM_005591.3(MRE11): c.*1933G> T single nucleotide variant Uncertain significance rs104895004 NCBI36 Chromosome 11, 93791006: 93791006
13 MRE11 NM_005591.3(MRE11): c.*1933G> T single nucleotide variant Uncertain significance rs104895004 GRCh37 Chromosome 11, 94151358: 94151358
14 MRE11 NM_005591.3(MRE11): c.*1776C> T single nucleotide variant Uncertain significance rs104895005 GRCh38 Chromosome 11, 94418349: 94418349
15 MRE11 NM_005591.3(MRE11): c.*1776C> T single nucleotide variant Uncertain significance rs104895005 NCBI36 Chromosome 11, 93791163: 93791163
16 MRE11 NM_005591.3(MRE11): c.*1776C> T single nucleotide variant Uncertain significance rs104895005 GRCh37 Chromosome 11, 94151515: 94151515
17 MRE11 NM_005591.3(MRE11): c.1480G> A (p.Glu494Lys) single nucleotide variant Uncertain significance rs104895016 GRCh38 Chromosome 11, 94459428: 94459428
18 MRE11 NM_005591.3(MRE11): c.1480G> A (p.Glu494Lys) single nucleotide variant Uncertain significance rs104895016 NCBI36 Chromosome 11, 93832242: 93832242
19 MRE11 NM_005591.3(MRE11): c.1480G> A (p.Glu494Lys) single nucleotide variant Uncertain significance rs104895016 GRCh37 Chromosome 11, 94192594: 94192594
20 MRE11 NM_005591.3(MRE11): c.1475C> A (p.Ala492Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61749249 GRCh38 Chromosome 11, 94459433: 94459433
21 MRE11 NM_005591.3(MRE11): c.1475C> A (p.Ala492Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61749249 NCBI36 Chromosome 11, 93832247: 93832247
22 MRE11 NM_005591.3(MRE11): c.1475C> A (p.Ala492Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61749249 GRCh37 Chromosome 11, 94192599: 94192599
23 MRE11 NM_005591.3(MRE11): c.1052G> A (p.Arg351His) single nucleotide variant Uncertain significance rs587780133 GRCh38 Chromosome 11, 94467859: 94467859
24 MRE11 NM_005591.3(MRE11): c.1052G> A (p.Arg351His) single nucleotide variant Uncertain significance rs587780133 GRCh37 Chromosome 11, 94201025: 94201025
25 MRE11 NM_005591.3(MRE11): c.121G> A (p.Asp41Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116679717 GRCh38 Chromosome 11, 94490865: 94490865
26 MRE11 NM_005591.3(MRE11): c.121G> A (p.Asp41Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116679717 GRCh37 Chromosome 11, 94224031: 94224031
27 MRE11 NM_005591.3(MRE11): c.1462C> T (p.Arg488Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs375261439 GRCh38 Chromosome 11, 94459446: 94459446
28 MRE11 NM_005591.3(MRE11): c.1462C> T (p.Arg488Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs375261439 GRCh37 Chromosome 11, 94192612: 94192612
29 MRE11 NM_005591.3(MRE11): c.1727G> A (p.Arg576Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139461096 GRCh38 Chromosome 11, 94447275: 94447275
30 MRE11 NM_005591.3(MRE11): c.1727G> A (p.Arg576Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139461096 GRCh37 Chromosome 11, 94180441: 94180441
31 MRE11 NM_005591.3(MRE11): c.1783+5G> C single nucleotide variant Conflicting interpretations of pathogenicity rs142082313 GRCh38 Chromosome 11, 94447214: 94447214
32 MRE11 NM_005591.3(MRE11): c.1783+5G> C single nucleotide variant Conflicting interpretations of pathogenicity rs142082313 GRCh37 Chromosome 11, 94180380: 94180380
33 MRE11 NM_005591.3(MRE11): c.1811G> A (p.Arg604His) single nucleotide variant Uncertain significance rs148637964 GRCh38 Chromosome 11, 94445866: 94445866
34 MRE11 NM_005591.3(MRE11): c.1811G> A (p.Arg604His) single nucleotide variant Uncertain significance rs148637964 GRCh37 Chromosome 11, 94179032: 94179032
35 MRE11 NM_005591.3(MRE11): c.1811G> C (p.Arg604Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs148637964 GRCh38 Chromosome 11, 94445866: 94445866
36 MRE11 NM_005591.3(MRE11): c.1811G> C (p.Arg604Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs148637964 GRCh37 Chromosome 11, 94179032: 94179032
37 MRE11 NM_005591.3(MRE11): c.274G> A (p.Glu92Lys) single nucleotide variant Uncertain significance rs587780139 GRCh38 Chromosome 11, 94485964: 94485964
38 MRE11 NM_005591.3(MRE11): c.274G> A (p.Glu92Lys) single nucleotide variant Uncertain significance rs587780139 GRCh37 Chromosome 11, 94219130: 94219130
39 MRE11 NM_005591.3(MRE11): c.311G> C (p.Ser104Thr) single nucleotide variant Uncertain significance rs587780140 GRCh38 Chromosome 11, 94485927: 94485927
40 MRE11 NM_005591.3(MRE11): c.311G> C (p.Ser104Thr) single nucleotide variant Uncertain significance rs587780140 GRCh37 Chromosome 11, 94219093: 94219093
41 MRE11 NM_005591.3(MRE11): c.529G> A (p.Ala177Thr) single nucleotide variant Uncertain significance rs142996063 GRCh38 Chromosome 11, 94478750: 94478750
42 MRE11 NM_005591.3(MRE11): c.529G> A (p.Ala177Thr) single nucleotide variant Uncertain significance rs142996063 GRCh37 Chromosome 11, 94211916: 94211916
43 MRE11 NM_005591.3(MRE11): c.818C> G (p.Ser273Cys) single nucleotide variant Uncertain significance rs143400546 GRCh38 Chromosome 11, 94471601: 94471601
44 MRE11 NM_005591.3(MRE11): c.818C> G (p.Ser273Cys) single nucleotide variant Uncertain significance rs143400546 GRCh37 Chromosome 11, 94204767: 94204767
45 MRE11 NM_005591.3(MRE11): c.913C> T (p.Arg305Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs372000848 GRCh38 Chromosome 11, 94470575: 94470575
46 MRE11 NM_005591.3(MRE11): c.913C> T (p.Arg305Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs372000848 GRCh37 Chromosome 11, 94203741: 94203741
47 MRE11 NM_005591.3(MRE11): c.2092A> G (p.Met698Val) single nucleotide variant Benign rs1805362 GRCh37 Chromosome 11, 94153326: 94153326
48 MRE11 NM_005591.3(MRE11): c.2092A> G (p.Met698Val) single nucleotide variant Benign rs1805362 GRCh38 Chromosome 11, 94420160: 94420160
49 MRE11 NM_005591.3(MRE11): c.403-6G> A single nucleotide variant Benign rs535801 GRCh37 Chromosome 11, 94212048: 94212048
50 MRE11 NM_005591.3(MRE11): c.403-6G> A single nucleotide variant Benign rs535801 GRCh38 Chromosome 11, 94478882: 94478882

Expression for Ataxia-Telangiectasia-Like Disorder 1

Search GEO for disease gene expression data for Ataxia-Telangiectasia-Like Disorder 1.

Pathways for Ataxia-Telangiectasia-Like Disorder 1

Pathways related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.93 MRE11 NBN
2
Show member pathways
11.91 MRE11 NBN
3
Show member pathways
11.88 MRE11 NBN
4
Show member pathways
11.82 MRE11 NBN
5 11.7 MRE11 NBN
6
Show member pathways
11.66 MRE11 NBN
7
Show member pathways
11.48 MRE11 NBN
8
Show member pathways
11.37 MRE11 NBN
9
Show member pathways
11.29 MRE11 NBN
10 11.14 MRE11 NBN
11 11.11 MRE11 NBN
12 10.92 MRE11 NBN
13
Show member pathways
10.73 MRE11 NBN
14 10.62 MRE11 NBN
15 10.34 MRE11 NBN
16
Show member pathways
9.83 MRE11 NBN

GO Terms for Ataxia-Telangiectasia-Like Disorder 1

Cellular components related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.32 MRE11 NBN
2 PML body GO:0016605 9.26 MRE11 NBN
3 chromosome, telomeric region GO:0000781 9.16 MRE11 NBN
4 site of double-strand break GO:0035861 8.96 MRE11 NBN
5 Mre11 complex GO:0030870 8.62 MRE11 NBN

Biological processes related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.52 MRE11 NBN
2 meiotic cell cycle GO:0051321 9.51 MRE11 NBN
3 double-strand break repair via homologous recombination GO:0000724 9.49 MRE11 NBN
4 double-strand break repair GO:0006302 9.48 MRE11 NBN
5 double-strand break repair via nonhomologous end joining GO:0006303 9.46 MRE11 NBN
6 DNA duplex unwinding GO:0032508 9.43 MRE11 NBN
7 telomere maintenance GO:0000723 9.4 MRE11 NBN
8 positive regulation of protein autophosphorylation GO:0031954 9.37 MRE11 NBN
9 positive regulation of kinase activity GO:0033674 9.32 MRE11 NBN
10 mitotic G2 DNA damage checkpoint GO:0007095 9.26 MRE11 NBN
11 DNA double-strand break processing GO:0000729 9.16 MRE11 NBN
12 positive regulation of telomere maintenance GO:0032206 8.96 MRE11 NBN
13 telomeric 3' overhang formation GO:0031860 8.62 MRE11 NBN

Molecular functions related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent DNA helicase activity GO:0004003 8.62 MRE11 NBN

Sources for Ataxia-Telangiectasia-Like Disorder 1

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