MCID: ATX040
MIFTS: 44

Ataxia-Telangiectasia-Like Disorder 1

Categories: Genetic diseases, Neuronal diseases, Skin diseases, Rare diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Blood diseases, Immune diseases, Ear 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-like disorder 2 and alpha-thalassemia/mental retardation syndrome, x-linked, and has symptoms including dysdiadochokinesis and gait ataxia. 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:

# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 2 10.9
2 alpha-thalassemia/mental retardation syndrome, x-linked 9.9 MRE11 NBN
3 nijmegen breakage syndrome 9.8 MRE11 NBN
4 hereditary breast ovarian cancer syndrome 9.8 MRE11 NBN
5 werner syndrome 9.7 MRE11 NBN
6 ataxia-telangiectasia 9.6 MRE11 NBN
7 fanconi anemia, complementation group a 9.3 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 40)
# 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 hypergonadotropic hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000815
13 joint laxity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001388
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 oculomotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000657
18 frequent falls 59 32 occasional (7.5%) Occasional (29-5%) HP:0002359
19 cerebellar vermis hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001320
20 drooling 59 32 occasional (7.5%) Occasional (29-5%) HP:0002307
21 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
22 absent achilles reflex 59 32 frequent (33%) Frequent (79-30%) HP:0003438
23 slow saccadic eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0000514
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 telangiectasia 32 HP:0001009
40 impaired smooth pursuit 32 HP:0007772

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


dysdiadochokinesis, gait ataxia

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

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 331)
# 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.1714C> T (p.Arg572Ter) single nucleotide variant Pathogenic rs137852761 GRCh37 Chromosome 11, 94180454: 94180454
4 MRE11 NM_005591.3(MRE11): c.1714C> T (p.Arg572Ter) single nucleotide variant Pathogenic rs137852761 GRCh38 Chromosome 11, 94447288: 94447288
5 MRE11 NM_005591.3(MRE11): c.1442C> A (p.Thr481Lys) single nucleotide variant Pathogenic rs137852762 GRCh37 Chromosome 11, 94192632: 94192632
6 MRE11 NM_005591.3(MRE11): c.1442C> A (p.Thr481Lys) single nucleotide variant Pathogenic rs137852762 GRCh38 Chromosome 11, 94459466: 94459466
7 MRE11 NM_005591.3(MRE11): c.630G> C (p.Trp210Cys) single nucleotide variant Pathogenic rs137852763 GRCh37 Chromosome 11, 94209484: 94209484
8 MRE11 NM_005591.3(MRE11): c.630G> C (p.Trp210Cys) single nucleotide variant Pathogenic rs137852763 GRCh38 Chromosome 11, 94476318: 94476318
9 MRE11 NM_005591.3(MRE11): c.1960_1979dup20 (p.Lys661Thrfs) duplication Pathogenic/Likely pathogenic rs587781442 GRCh37 Chromosome 11, 94169013: 94169032
10 MRE11 NM_005591.3(MRE11): c.1960_1979dup20 (p.Lys661Thrfs) duplication Pathogenic/Likely pathogenic rs587781442 GRCh38 Chromosome 11, 94435847: 94435866
11 MRE11 NM_005591.3(MRE11): c.140C> T (p.Ala47Val) single nucleotide variant Uncertain significance rs730880378 GRCh37 Chromosome 11, 94224012: 94224012
12 MRE11 NM_005591.3(MRE11): c.140C> T (p.Ala47Val) single nucleotide variant Uncertain significance rs730880378 GRCh38 Chromosome 11, 94490846: 94490846
13 MRE11 NM_005591.3(MRE11): c.969A> G (p.Pro323=) single nucleotide variant Benign/Likely benign rs13447633 GRCh38 Chromosome 11, 94470519: 94470519
14 MRE11 NM_005591.3(MRE11): c.969A> G (p.Pro323=) single nucleotide variant Benign/Likely benign rs13447633 GRCh37 Chromosome 11, 94203685: 94203685
15 MRE11 NM_005591.3(MRE11): c.845+11T> C single nucleotide variant Benign/Likely benign rs140145979 GRCh38 Chromosome 11, 94471563: 94471563
16 MRE11 NM_005591.3(MRE11): c.845+11T> C single nucleotide variant Benign/Likely benign rs140145979 GRCh37 Chromosome 11, 94204729: 94204729
17 MRE11 NM_005591.3(MRE11): c.822T> C (p.Leu274=) single nucleotide variant Conflicting interpretations of pathogenicity rs137868143 GRCh38 Chromosome 11, 94471597: 94471597
18 MRE11 NM_005591.3(MRE11): c.822T> C (p.Leu274=) single nucleotide variant Conflicting interpretations of pathogenicity rs137868143 GRCh37 Chromosome 11, 94204763: 94204763
19 MRE11 NM_005591.3(MRE11): c.771A> G (p.Glu257=) single nucleotide variant Benign/Likely benign rs13447632 GRCh38 Chromosome 11, 94471648: 94471648
20 MRE11 NM_005591.3(MRE11): c.771A> G (p.Glu257=) single nucleotide variant Benign/Likely benign rs13447632 GRCh37 Chromosome 11, 94204814: 94204814
21 MRE11 NM_005591.3(MRE11): c.426C> T (p.Asp142=) single nucleotide variant Conflicting interpretations of pathogenicity rs3218740 GRCh38 Chromosome 11, 94478853: 94478853
22 MRE11 NM_005591.3(MRE11): c.426C> T (p.Asp142=) single nucleotide variant Conflicting interpretations of pathogenicity rs3218740 GRCh37 Chromosome 11, 94212019: 94212019
23 MRE11 NM_005591.3(MRE11): c.120C> T (p.Leu40=) single nucleotide variant Benign/Likely benign rs1805364 GRCh38 Chromosome 11, 94490866: 94490866
24 MRE11 NM_005591.3(MRE11): c.120C> T (p.Leu40=) single nucleotide variant Benign/Likely benign rs1805364 GRCh37 Chromosome 11, 94224032: 94224032
25 MRE11 NM_005591.3(MRE11): c.2083_2085dupGAT (p.Asp695_Pro696insAsp) duplication Uncertain significance rs786203003 GRCh37 Chromosome 11, 94153333: 94153335
26 MRE11 NM_005591.3(MRE11): c.2083_2085dupGAT (p.Asp695_Pro696insAsp) duplication Uncertain significance rs786203003 GRCh38 Chromosome 11, 94420167: 94420169
27 MRE11 NM_005591.3(MRE11): c.2076T> A (p.Asp692Glu) single nucleotide variant Uncertain significance rs778093337 GRCh37 Chromosome 11, 94153342: 94153342
28 MRE11 NM_005591.3(MRE11): c.2076T> A (p.Asp692Glu) single nucleotide variant Uncertain significance rs778093337 GRCh38 Chromosome 11, 94420176: 94420176
29 MRE11 NM_005591.3(MRE11): c.2070+2T> A single nucleotide variant Conflicting interpretations of pathogenicity rs786202801 GRCh37 Chromosome 11, 94163075: 94163075
30 MRE11 NM_005591.3(MRE11): c.2070+2T> A single nucleotide variant Conflicting interpretations of pathogenicity rs786202801 GRCh38 Chromosome 11, 94429909: 94429909
31 MRE11 NM_005591.3(MRE11): c.2049G> A (p.Gly683=) single nucleotide variant Likely benign rs758931835 GRCh37 Chromosome 11, 94163098: 94163098
32 MRE11 NM_005591.3(MRE11): c.2049G> A (p.Gly683=) single nucleotide variant Likely benign rs758931835 GRCh38 Chromosome 11, 94429932: 94429932
33 MRE11 NM_005591.3(MRE11): c.1758G> A (p.Ser586=) single nucleotide variant Conflicting interpretations of pathogenicity rs766372720 GRCh37 Chromosome 11, 94180410: 94180410
34 MRE11 NM_005591.3(MRE11): c.1758G> A (p.Ser586=) single nucleotide variant Conflicting interpretations of pathogenicity rs766372720 GRCh38 Chromosome 11, 94447244: 94447244
35 MRE11 NM_005591.3(MRE11): c.1726C> T (p.Arg576Ter) single nucleotide variant Pathogenic rs774277300 GRCh37 Chromosome 11, 94180442: 94180442
36 MRE11 NM_005591.3(MRE11): c.1726C> T (p.Arg576Ter) single nucleotide variant Pathogenic rs774277300 GRCh38 Chromosome 11, 94447276: 94447276
37 MRE11 NM_005591.3(MRE11): c.1726C> G (p.Arg576Gly) single nucleotide variant Uncertain significance rs774277300 GRCh37 Chromosome 11, 94180442: 94180442
38 MRE11 NM_005591.3(MRE11): c.1726C> G (p.Arg576Gly) single nucleotide variant Uncertain significance rs774277300 GRCh38 Chromosome 11, 94447276: 94447276
39 MRE11 NM_005591.3(MRE11): c.1574G> A (p.Arg525Lys) single nucleotide variant Uncertain significance rs773275841 GRCh37 Chromosome 11, 94180594: 94180594
40 MRE11 NM_005591.3(MRE11): c.1574G> A (p.Arg525Lys) single nucleotide variant Uncertain significance rs773275841 GRCh38 Chromosome 11, 94447428: 94447428
41 MRE11 NM_005591.3(MRE11): c.1476C> T (p.Ala492=) single nucleotide variant Likely benign rs370397034 GRCh37 Chromosome 11, 94192598: 94192598
42 MRE11 NM_005591.3(MRE11): c.1476C> T (p.Ala492=) single nucleotide variant Likely benign rs370397034 GRCh38 Chromosome 11, 94459432: 94459432
43 MRE11 NM_005591.3(MRE11): c.1463G> A (p.Arg488His) single nucleotide variant Uncertain significance rs145377856 GRCh37 Chromosome 11, 94192611: 94192611
44 MRE11 NM_005591.3(MRE11): c.1463G> A (p.Arg488His) single nucleotide variant Uncertain significance rs145377856 GRCh38 Chromosome 11, 94459445: 94459445
45 MRE11 NM_005591.3(MRE11): c.1462C> G (p.Arg488Gly) single nucleotide variant Uncertain significance rs375261439 GRCh37 Chromosome 11, 94192612: 94192612
46 MRE11 NM_005591.3(MRE11): c.1462C> G (p.Arg488Gly) single nucleotide variant Uncertain significance rs375261439 GRCh38 Chromosome 11, 94459446: 94459446
47 MRE11 NM_005591.3(MRE11): c.1443A> G (p.Thr481=) single nucleotide variant Likely benign rs375077574 GRCh37 Chromosome 11, 94192631: 94192631
48 MRE11 NM_005591.3(MRE11): c.1443A> G (p.Thr481=) single nucleotide variant Likely benign rs375077574 GRCh38 Chromosome 11, 94459465: 94459465
49 MRE11 NM_005591.3(MRE11): c.1404T> C (p.Asp468=) single nucleotide variant Conflicting interpretations of pathogenicity rs368144567 GRCh37 Chromosome 11, 94192670: 94192670
50 MRE11 NM_005591.3(MRE11): c.1404T> C (p.Asp468=) single nucleotide variant Conflicting interpretations of pathogenicity rs368144567 GRCh38 Chromosome 11, 94459504: 94459504

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 MRE11 NBN
2
Show member pathways
11.88 MRE11 NBN
3
Show member pathways
11.86 MRE11 NBN
4
Show member pathways
11.79 MRE11 NBN
5 11.68 MRE11 NBN
6
Show member pathways
11.64 MRE11 NBN
7
Show member pathways
11.46 MRE11 NBN
8
Show member pathways
11.34 MRE11 NBN
9
Show member pathways
11.29 MRE11 NBN
10 11.14 MRE11 NBN
11 10.92 MRE11 NBN
12 10.62 MRE11 NBN
13 10.34 MRE11 NBN
14
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 16)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.56 MRE11 NBN
2 regulation of signal transduction by p53 class mediator GO:1901796 9.55 MRE11 NBN
3 meiotic cell cycle GO:0051321 9.54 MRE11 NBN
4 double-strand break repair via homologous recombination GO:0000724 9.52 MRE11 NBN
5 positive regulation of kinase activity GO:0033674 9.51 MRE11 NBN
6 double-strand break repair via nonhomologous end joining GO:0006303 9.49 MRE11 NBN
7 double-strand break repair GO:0006302 9.48 MRE11 NBN
8 DNA duplex unwinding GO:0032508 9.46 MRE11 NBN
9 telomere maintenance GO:0000723 9.43 MRE11 NBN
10 DNA synthesis involved in DNA repair GO:0000731 9.4 MRE11 NBN
11 strand displacement GO:0000732 9.37 MRE11 NBN
12 positive regulation of protein autophosphorylation GO:0031954 9.32 MRE11 NBN
13 mitotic G2 DNA damage checkpoint GO:0007095 9.26 MRE11 NBN
14 DNA double-strand break processing GO:0000729 9.16 MRE11 NBN
15 positive regulation of telomere maintenance GO:0032206 8.96 MRE11 NBN
16 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
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
Content
Loading form....