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 58 76 30 6 74
Ataxia-Telangiectasia-Like Disorder 60 76 30 13 56 41
Atld 58 60 76
Atld1 58 76

Characteristics:

Orphanet epidemiological data:

60
ataxia-telangiectasia-like disorder
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in early childhood


HPO:

33
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 : 58 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 : 76 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 10.3
5 telangiectasis 10.3
6 lung cancer susceptibility 3 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 9.8 MRE11 NBN
13 werner syndrome 9.8 MRE11 NBN
14 fanconi anemia, complementation group a 9.7 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

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

60 33 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
2 chorea 60 33 frequent (33%) Frequent (79-30%) HP:0002072
3 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
4 dysmetria 60 33 frequent (33%) Frequent (79-30%) HP:0001310
5 intention tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002080
6 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
7 mask-like facies 60 33 frequent (33%) Frequent (79-30%) HP:0000298
8 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
9 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
10 oculomotor apraxia 60 33 frequent (33%) Frequent (79-30%) HP:0000657
11 cerebellar vermis hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001320
12 absent achilles reflex 60 33 frequent (33%) Frequent (79-30%) HP:0003438
13 slow saccadic eye movements 60 33 frequent (33%) Frequent (79-30%) HP:0000514
14 orofacial dyskinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002310
15 dilated fourth ventricle 60 33 frequent (33%) Frequent (79-30%) HP:0002198
16 enlarged interhemispheric fissure 60 33 frequent (33%) Frequent (79-30%) HP:0100953
17 delayed speech and language development 60 33 occasional (7.5%) Occasional (29-5%) HP:0000750
18 myoclonus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001336
19 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
20 joint laxity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001388
21 hypergonadotropic hypogonadism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000815
22 dysdiadochokinesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002075
23 sensorimotor neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007141
24 frequent falls 60 33 occasional (7.5%) Occasional (29-5%) HP:0002359
25 drooling 60 33 occasional (7.5%) Occasional (29-5%) HP:0002307
26 hyperactive deep tendon reflexes 60 33 occasional (7.5%) Occasional (29-5%) HP:0006801
27 abnormality of ocular smooth pursuit 60 33 occasional (7.5%) Occasional (29-5%) HP:0000617
28 gaze-evoked nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000640
29 vertical nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0010544
30 small posterior fossa 60 33 occasional (7.5%) Occasional (29-5%) HP:0040010
31 dysmetric saccades 60 33 occasional (7.5%) Occasional (29-5%) HP:0000641
32 short stature 60 33 very rare (1%) Very rare (<4-1%) HP:0004322
33 ataxia 60 Very frequent (99-80%)
34 reduced tendon reflexes 60 Frequent (79-30%)
35 hyporeflexia 33 HP:0001265
36 lower limb spasticity 33 HP:0002061
37 distal amyotrophy 33 HP:0003693
38 hypometric saccades 33 HP:0000571
39 increased sensitivity to ionizing radiation 33 HP:0011133
40 telangiectasia 33 HP:0001009
41 impaired smooth pursuit 33 HP:0007772

Symptoms via clinical synopsis from OMIM:

58
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

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 30
2 Ataxia-Telangiectasia-Like Disorder 30

Anatomical Context for Ataxia-Telangiectasia-Like Disorder 1

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

42
Eye, Skin, Lung, Neutrophil

Publications for Ataxia-Telangiectasia-Like Disorder 1

Articles related to Ataxia-Telangiectasia-Like Disorder 1:

(show all 14)
# Title Authors Year
1
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant. ( 30584599 )
2018
2
Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. ( 29170652 )
2017
3
Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues? ( 24733832 )
2014
4
Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder. ( 23436002 )
2013
5
Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. ( 20087742 )
2010
6
Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. ( 19732584 )
2009
7
Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. ( 18652530 )
2008
8
Ophthalmic features of ataxia telangiectasia-like disorder. ( 18083591 )
2008
9
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. ( 15574463 )
2005
10
Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. ( 15279810 )
2004
11
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. ( 15269180 )
2004
12
Regulation of Mre11/Rad50 by Nbs1: effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes. ( 12966088 )
2003
13
Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder. ( 11481721 )
2001
14
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:

76
# 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.140C> T (p.Ala47Val) single nucleotide variant Uncertain significance rs730880378 GRCh37 Chromosome 11, 94224012: 94224012
2 MRE11 NM_005591.3(MRE11): c.140C> T (p.Ala47Val) single nucleotide variant Uncertain significance rs730880378 GRCh38 Chromosome 11, 94490846: 94490846
3 MRE11 NM_005591.3(MRE11): c.969A> G (p.Pro323=) single nucleotide variant Benign/Likely benign rs13447633 GRCh38 Chromosome 11, 94470519: 94470519
4 MRE11 NM_005591.3(MRE11): c.969A> G (p.Pro323=) single nucleotide variant Benign/Likely benign rs13447633 GRCh37 Chromosome 11, 94203685: 94203685
5 MRE11 NM_005591.3(MRE11): c.845+11T> C single nucleotide variant Benign/Likely benign rs140145979 GRCh38 Chromosome 11, 94471563: 94471563
6 MRE11 NM_005591.3(MRE11): c.845+11T> C single nucleotide variant Benign/Likely benign rs140145979 GRCh37 Chromosome 11, 94204729: 94204729
7 MRE11 NM_005591.3(MRE11): c.822T> C (p.Leu274=) single nucleotide variant Conflicting interpretations of pathogenicity rs137868143 GRCh38 Chromosome 11, 94471597: 94471597
8 MRE11 NM_005591.3(MRE11): c.822T> C (p.Leu274=) single nucleotide variant Conflicting interpretations of pathogenicity rs137868143 GRCh37 Chromosome 11, 94204763: 94204763
9 MRE11 NM_005591.3(MRE11): c.771A> G (p.Glu257=) single nucleotide variant Benign/Likely benign rs13447632 GRCh38 Chromosome 11, 94471648: 94471648
10 MRE11 NM_005591.3(MRE11): c.771A> G (p.Glu257=) single nucleotide variant Benign/Likely benign rs13447632 GRCh37 Chromosome 11, 94204814: 94204814
11 MRE11 NM_005591.3(MRE11): c.426C> T (p.Asp142=) single nucleotide variant Conflicting interpretations of pathogenicity rs3218740 GRCh38 Chromosome 11, 94478853: 94478853
12 MRE11 NM_005591.3(MRE11): c.426C> T (p.Asp142=) single nucleotide variant Conflicting interpretations of pathogenicity rs3218740 GRCh37 Chromosome 11, 94212019: 94212019
13 MRE11 NM_005591.3(MRE11): c.120C> T (p.Leu40=) single nucleotide variant Benign/Likely benign rs1805364 GRCh38 Chromosome 11, 94490866: 94490866
14 MRE11 NM_005591.3(MRE11): c.120C> T (p.Leu40=) single nucleotide variant Benign/Likely benign rs1805364 GRCh37 Chromosome 11, 94224032: 94224032
15 MRE11 NM_005591.3(MRE11): c.77T> C (p.Met26Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs372068015 GRCh38 Chromosome 11, 94490909: 94490909
16 MRE11 NM_005591.3(MRE11): c.77T> C (p.Met26Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs372068015 GRCh37 Chromosome 11, 94224075: 94224075
17 MRE11 NM_005591.3(MRE11): c.2083_2085dupGAT (p.Asp695_Pro696insAsp) duplication Uncertain significance rs779409748 GRCh37 Chromosome 11, 94153333: 94153335
18 MRE11 NM_005591.3(MRE11): c.2083_2085dupGAT (p.Asp695_Pro696insAsp) duplication Uncertain significance rs779409748 GRCh38 Chromosome 11, 94420167: 94420169
19 MRE11 NM_005591.3(MRE11): c.2076T> A (p.Asp692Glu) single nucleotide variant Uncertain significance rs778093337 GRCh37 Chromosome 11, 94153342: 94153342
20 MRE11 NM_005591.3(MRE11): c.2076T> A (p.Asp692Glu) single nucleotide variant Uncertain significance rs778093337 GRCh38 Chromosome 11, 94420176: 94420176
21 MRE11 NM_005591.3(MRE11): c.2070+2T> A single nucleotide variant Conflicting interpretations of pathogenicity rs786202801 GRCh37 Chromosome 11, 94163075: 94163075
22 MRE11 NM_005591.3(MRE11): c.2070+2T> A single nucleotide variant Conflicting interpretations of pathogenicity rs786202801 GRCh38 Chromosome 11, 94429909: 94429909
23 MRE11 NM_005591.3(MRE11): c.2049G> A (p.Gly683=) single nucleotide variant Likely benign rs758931835 GRCh37 Chromosome 11, 94163098: 94163098
24 MRE11 NM_005591.3(MRE11): c.2049G> A (p.Gly683=) single nucleotide variant Likely benign rs758931835 GRCh38 Chromosome 11, 94429932: 94429932
25 MRE11 NM_005591.3(MRE11): c.1834G> C (p.Val612Leu) single nucleotide variant Uncertain significance rs371719012 GRCh37 Chromosome 11, 94179009: 94179009
26 MRE11 NM_005591.3(MRE11): c.1834G> C (p.Val612Leu) single nucleotide variant Uncertain significance rs371719012 GRCh38 Chromosome 11, 94445843: 94445843
27 MRE11 NM_005591.3(MRE11): c.1758G> A (p.Ser586=) single nucleotide variant Conflicting interpretations of pathogenicity rs766372720 GRCh37 Chromosome 11, 94180410: 94180410
28 MRE11 NM_005591.3(MRE11): c.1758G> A (p.Ser586=) single nucleotide variant Conflicting interpretations of pathogenicity rs766372720 GRCh38 Chromosome 11, 94447244: 94447244
29 MRE11 NM_005591.3(MRE11): c.1726C> T (p.Arg576Ter) single nucleotide variant Pathogenic rs774277300 GRCh38 Chromosome 11, 94447276: 94447276
30 MRE11 NM_005591.3(MRE11): c.1726C> T (p.Arg576Ter) single nucleotide variant Pathogenic rs774277300 GRCh37 Chromosome 11, 94180442: 94180442
31 MRE11 NM_005591.3(MRE11): c.1726C> G (p.Arg576Gly) single nucleotide variant Uncertain significance rs774277300 GRCh37 Chromosome 11, 94180442: 94180442
32 MRE11 NM_005591.3(MRE11): c.1726C> G (p.Arg576Gly) single nucleotide variant Uncertain significance rs774277300 GRCh38 Chromosome 11, 94447276: 94447276
33 MRE11 NM_005591.3(MRE11): c.1715G> A (p.Arg572Gln) single nucleotide variant Uncertain significance rs200085146 GRCh37 Chromosome 11, 94180453: 94180453
34 MRE11 NM_005591.3(MRE11): c.1715G> A (p.Arg572Gln) single nucleotide variant Uncertain significance rs200085146 GRCh38 Chromosome 11, 94447287: 94447287
35 MRE11 NM_005591.3(MRE11): c.1699A> G (p.Asn567Asp) single nucleotide variant Uncertain significance rs778585671 GRCh37 Chromosome 11, 94180469: 94180469
36 MRE11 NM_005591.3(MRE11): c.1699A> G (p.Asn567Asp) single nucleotide variant Uncertain significance rs778585671 GRCh38 Chromosome 11, 94447303: 94447303
37 MRE11 NM_005591.3(MRE11): c.1574G> A (p.Arg525Lys) single nucleotide variant Uncertain significance rs773275841 GRCh37 Chromosome 11, 94180594: 94180594
38 MRE11 NM_005591.3(MRE11): c.1574G> A (p.Arg525Lys) single nucleotide variant Uncertain significance rs773275841 GRCh38 Chromosome 11, 94447428: 94447428
39 MRE11 NM_005591.3(MRE11): c.1559G> A (p.Arg520His) single nucleotide variant Uncertain significance rs753148077 GRCh37 Chromosome 11, 94189446: 94189446
40 MRE11 NM_005591.3(MRE11): c.1559G> A (p.Arg520His) single nucleotide variant Uncertain significance rs753148077 GRCh38 Chromosome 11, 94456280: 94456280
41 MRE11 NM_005591.3(MRE11): c.1491C> T (p.Ile497=) single nucleotide variant Benign/Likely benign rs199634245 GRCh38 Chromosome 11, 94459417: 94459417
42 MRE11 NM_005591.3(MRE11): c.1491C> T (p.Ile497=) single nucleotide variant Benign/Likely benign rs199634245 GRCh37 Chromosome 11, 94192583: 94192583
43 MRE11 NM_005591.3(MRE11): c.1476C> T (p.Ala492=) single nucleotide variant Likely benign rs370397034 GRCh37 Chromosome 11, 94192598: 94192598
44 MRE11 NM_005591.3(MRE11): c.1476C> T (p.Ala492=) single nucleotide variant Likely benign rs370397034 GRCh38 Chromosome 11, 94459432: 94459432
45 MRE11 NM_005591.3(MRE11): c.1463G> A (p.Arg488His) single nucleotide variant Uncertain significance rs145377856 GRCh38 Chromosome 11, 94459445: 94459445
46 MRE11 NM_005591.3(MRE11): c.1463G> A (p.Arg488His) single nucleotide variant Uncertain significance rs145377856 GRCh37 Chromosome 11, 94192611: 94192611
47 MRE11 NM_005591.3(MRE11): c.1462C> G (p.Arg488Gly) single nucleotide variant Uncertain significance rs375261439 GRCh37 Chromosome 11, 94192612: 94192612
48 MRE11 NM_005591.3(MRE11): c.1462C> G (p.Arg488Gly) single nucleotide variant Uncertain significance rs375261439 GRCh38 Chromosome 11, 94459446: 94459446
49 MRE11 NM_005591.3(MRE11): c.1443A> G (p.Thr481=) single nucleotide variant Likely benign rs375077574 GRCh37 Chromosome 11, 94192631: 94192631
50 MRE11 NM_005591.3(MRE11): c.1443A> G (p.Thr481=) single nucleotide variant Likely benign rs375077574 GRCh38 Chromosome 11, 94459465: 94459465

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

3 CDC
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10 dbSNP
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17 EFO
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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