MCID: ALP014
MIFTS: 52

Alpha-Thalassemia/mental Retardation Syndrome

Categories: Genetic diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Blood diseases, Rare diseases, Mental diseases

Aliases & Classifications for Alpha-Thalassemia/mental Retardation Syndrome

MalaCards integrated aliases for Alpha-Thalassemia/mental Retardation Syndrome:

Name: Alpha-Thalassemia/mental Retardation Syndrome 54 13
Atr-X Syndrome 56 71 29 52
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked 69
Alpha-Thalassemia/mental Retardation Syndrome Non-Deletion Type X-Linked 71
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome 56
Alpha-Thalassemia Mental Retardation Syndrome, X-Linked 71
Alpha Thalassemia-Mental Retardation Syndrome 69
Mental Retardation, X-Linked 42
Atr Nondeletion Type 71
Atr-X 71
Atrx 71

Characteristics:

Orphanet epidemiological data:

56
alpha-thalassemia-x-linked intellectual disability syndrome
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
Miscellaneous:
variable phenotype
x-linked mental retardation-hypotonic facies syndrome is an allelic disorder without alpha-thalassemia

Inheritance:
x-linked dominant


HPO:

32
alpha-thalassemia/mental retardation syndrome:
Onset and clinical course phenotypic variability
Mortality/Aging death in infancy
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Alpha-Thalassemia/mental Retardation Syndrome

UniProtKB/Swiss-Prot : 71 Alpha-thalassemia mental retardation syndrome, X-linked: A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions.

MalaCards based summary : Alpha-Thalassemia/mental Retardation Syndrome, also known as atr-x syndrome, is related to mental retardation-hypotonic facies syndrome, x-linked and mental retardation, x-linked, syndromic 15, and has symptoms including short stature, macroglossia and optic atrophy. An important gene associated with Alpha-Thalassemia/mental Retardation Syndrome is ATRX (ATRX, Chromatin Remodeler), and among its related pathways/superpathways are DNA Damage and Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA). Affiliated tissues include kidney and tongue, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and cellular

Description from OMIM: 301040

Related Diseases for Alpha-Thalassemia/mental Retardation Syndrome

Diseases related to Alpha-Thalassemia/mental Retardation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
id Related Disease Score Top Affiliating Genes
1 mental retardation-hypotonic facies syndrome, x-linked 28.6 ATRX HELLS MRE11 RPA1 XRCC5
2 mental retardation, x-linked, syndromic 15 12.4
3 mental retardation, x-linked 29 and others 12.4
4 mental retardation, x-linked, syndromic 13 12.4
5 mental retardation, x-linked syndromic, lubs type 12.4
6 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 12.4
7 mental retardation, x-linked syndromic, nascimento-type 12.4
8 mental retardation, x-linked syndromic, raymond type 12.4
9 mental retardation, x-linked, syndromic 32 12.4
10 mental retardation, x-linked, syndromic, martin-probst type 12.4
11 mental retardation, x-linked syndromic, turner type 12.4
12 mental retardation, x-linked 12/35 12.4
13 mental retardation, x-linked, syndromic 11, shashi type 12.4
14 mental retardation, x-linked syndromic, christianson type 12.4
15 mental retardation, x-linked, with isolated growth hormone deficiency 12.4
16 mental retardation, x-linked 98 12.4
17 mental retardation, x-linked, fraxe type 12.4
18 mental retardation, x-linked 49/15 12.4
19 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 12.3
20 mental retardation, x-linked, syndromic 33 12.3
21 mental retardation, x-linked, syndromic, hedera type 12.3
22 mental retardation, x-linked 99 12.3
23 mental retardation, x-linked, syndromic 34 12.3
24 mental retardation, x-linked 102 12.3
25 mental retardation, x-linked 97 12.3
26 mental retardation, x-linked 3 12.3
27 mental retardation, x-linked 96 12.3
28 mental retardation, x-linked 101 12.3
29 mental retardation, x-linked 104 12.3
30 mental retardation, x-linked, syndromic, claes-jensen type 12.3
31 mental retardation, x-linked 30/47 12.3
32 mental retardation, x-linked 99, syndromic, female-restricted 12.3
33 mental retardation, x-linked 92 12.3
34 mental retardation, x-linked, syndromic, bain type 12.3
35 mental retardation, x-linked 1/78 12.3
36 mental retardation, x-linked, syndromic, wu type 12.3
37 mental retardation, x-linked 61 12.3
38 mental retardation, x-linked 100 12.3
39 mental retardation, x-linked 9/44 12.3
40 mental retardation, x-linked, syndromic, borck type 12.3
41 mental retardation, x-linked 103 12.3
42 mental retardation, x-linked syndromic 5 12.2
43 mental retardation, x-linked, snyder-robinson type 12.1
44 mental retardation, x-linked, syndromic 17 12.1
45 mental retardation, x-linked, syndromic, wilson-turner type 12.1
46 mental retardation, x-linked, syndromic, chudley-schwartz type 12.1
47 mental retardation, x-linked, syndromic 9 12.1
48 mental retardation, x-linked 106 12.0
49 mental retardation, x-linked 42 12.0
50 mental retardation x-linked dysmorphism 12.0

Graphical network of the top 20 diseases related to Alpha-Thalassemia/mental Retardation Syndrome:



Diseases related to Alpha-Thalassemia/mental Retardation Syndrome

Symptoms & Phenotypes for Alpha-Thalassemia/mental Retardation Syndrome

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
mental retardation
cerebral atrophy
delayed developmental milestones
hypotonia early
expressive speech absent
more
Head And Neck- Head:
microcephaly
absent frontal sinuses

Head And Neck- Eyes:
epicanthal folds
hypertelorism

Genitourinary- External Genitalia Male:
hypospadias
shawl scrotum
small penis

Head And Neck- Nose:
anteverted nares
low nasal bridge
small triangular nose

Head And Neck- Mouth:
full lips
protruding tongue
'carp-like' mouth

Genitourinary- Internal Genitalia Male:
cryptorchidism

Skeletal- Hands:
clinodactyly
tapering fingers

Head And Neck- Face:
mid-face hypoplasia

Cardiovascular- Heart:
perimembranous ventricular septal defect

Laboratory- Abnormalities:
hb h erythrocyte inclusions

Abdomen- External Features:
umbilical hernia

Head And Neck- Ears:
low-set ears
posteriorly rotated ears
small ears
sensorineural hearing loss (less common)

Skeletal- Pelvis:
coxa valga

Skeletal- Spine:
kyphoscoliosis
hemivertebra

Genitourinary- Kidneys:
hydronephrosis
renal agenesis

Abdomen- Gastroin testinal:
gastroesophageal reflux
constipation

Skeletal- Feet:
talipes equinovarus

Growth- Other:
postnatal growth deficiency

Head And Neck- Teeth:
widely-spaced upper incisors

Hematology:
mild hypochromic microcytic anemia
mild form of hemoglobin h (hb h) disease


Clinical features from OMIM:

301040

Human phenotypes related to Alpha-Thalassemia/mental Retardation Syndrome:

56 32 (show top 50) (show all 88)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 macroglossia 56 32 frequent (33%) Frequent (79-30%) HP:0000158
3 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
4 myopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000545
5 recurrent urinary tract infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0000010
6 spastic paraplegia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001258
7 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
8 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
9 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
10 ambiguous genitalia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000062
11 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
12 anteverted nares 56 32 frequent (33%) Frequent (79-30%) HP:0000463
13 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
14 gastroesophageal reflux 56 32 hallmark (90%) Very frequent (99-80%) HP:0002020
15 cryptorchidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000028
16 talipes equinovarus 56 32 frequent (33%) Frequent (79-30%) HP:0001762
17 depression 56 32 occasional (7.5%) Occasional (29-5%) HP:0000716
18 telecanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000506
19 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
20 blindness 56 32 occasional (7.5%) Occasional (29-5%) HP:0000618
21 encephalitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002383
22 autism 56 32 frequent (33%) Frequent (79-30%) HP:0000717
23 agenesis of corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0001274
24 cerebral cortical atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002120
25 constipation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002019
26 dysphasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002357
27 joint stiffness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001387
28 midface retrusion 56 32 frequent (33%) Frequent (79-30%) HP:0011800
29 self-injurious behavior 56 32 occasional (7.5%) Occasional (29-5%) HP:0100716
30 flat face 56 32 hallmark (90%) Very frequent (99-80%) HP:0012368
31 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
32 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
33 feeding difficulties in infancy 56 32 occasional (7.5%) Occasional (29-5%) HP:0008872
34 profound global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0012736
35 sensorineural hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000407
36 volvulus 56 32 occasional (7.5%) Occasional (29-5%) HP:0002580
37 thick lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000179
38 male pseudohermaphroditism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000037
39 aganglionic megacolon 56 32 occasional (7.5%) Occasional (29-5%) HP:0002251
40 depressed nasal ridge 56 32 frequent (33%) Frequent (79-30%) HP:0000457
41 everted lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000232
42 nausea and vomiting 56 32 occasional (7.5%) Occasional (29-5%) HP:0002017
43 hypoplasia of penis 56 32 frequent (33%) Frequent (79-30%) HP:0008736
44 flexion contracture 56 32 occasional (7.5%) Occasional (29-5%) HP:0001371
45 abnormality of movement 56 32 occasional (7.5%) Occasional (29-5%) HP:0100022
46 abnormal hemoglobin 56 32 frequent (33%) Frequent (79-30%) HP:0011902
47 clinodactyly of the 5th finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0004209
48 tented upper lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0010804
49 u-shaped upper lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0010806
50 abnormality of fontanelles 56 32 hallmark (90%) Very frequent (99-80%) HP:0011328

UMLS symptoms related to Alpha-Thalassemia/mental Retardation Syndrome:


constipation

GenomeRNAi Phenotypes related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 MRE11 RPA1 XRCC5

MGI Mouse Phenotypes related to Alpha-Thalassemia/mental Retardation Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.35 ATRX HELLS MRE11 RPA1 XRCC5
2 mortality/aging MP:0010768 9.02 ATRX HELLS MRE11 RPA1 XRCC5

Drugs & Therapeutics for Alpha-Thalassemia/mental Retardation Syndrome

Search Clinical Trials , NIH Clinical Center for Alpha-Thalassemia/mental Retardation Syndrome

Cochrane evidence based reviews: mental retardation, x-linked

Genetic Tests for Alpha-Thalassemia/mental Retardation Syndrome

Genetic tests related to Alpha-Thalassemia/mental Retardation Syndrome:

id Genetic test Affiliating Genes
1 Atr-X Syndrome 29

Anatomical Context for Alpha-Thalassemia/mental Retardation Syndrome

MalaCards organs/tissues related to Alpha-Thalassemia/mental Retardation Syndrome:

39
Kidney, Tongue

Publications for Alpha-Thalassemia/mental Retardation Syndrome

Articles related to Alpha-Thalassemia/mental Retardation Syndrome:

(show all 21)
id Title Authors Year
1
A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia. ( 26860117 )
2016
2
Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress. ( 23329831 )
2013
3
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome. ( 20602808 )
2010
4
First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability. ( 20500465 )
2010
5
[X-linked alpha-thalassemia/mental retardation syndrome]. ( 19489441 )
2009
6
Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. ( 18076105 )
2008
7
Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X. ( 16100724 )
2005
8
Alpha-thalassemia/mental retardation syndrome in a 45,X male. ( 15633163 )
2005
9
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). ( 12032728 )
2002
10
Molecular genetic study of Japanese patients with X-linked alpha- thalassemia/mental retardation syndrome (ATR-X). ( 10995512 )
2000
11
A case of X-linked alpha-thalassemia/mental retardation syndrome: analysis of hemoglobin by an automated glycated hemoglobin analyzer. ( 9363663 )
1997
12
A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report. ( 8996969 )
1996
13
Self-induced vomiting in X-linked alpha-thalassemia/mental retardation syndrome. ( 8967323 )
1996
14
The alpha-thalassemia/mental retardation syndromes. ( 8606626 )
1996
15
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). ( 7726225 )
1995
16
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? ( 7726226 )
1995
17
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). ( 8460633 )
1993
18
X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq. ( 8166423 )
1993
19
Alpha-thalassemia/mental retardation syndrome often confused with other disorders. ( 1456302 )
1992
20
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. ( 2339705 )
1990
21
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. ( 2339704 )
1990

Variations for Alpha-Thalassemia/mental Retardation Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Alpha-Thalassemia/mental Retardation Syndrome:

71 (show all 28)
id Symbol AA change Variation ID SNP ID
1 ATRX p.Pro190Ala VAR_001226
2 ATRX p.Leu192Phe VAR_001227
3 ATRX p.Cys200Ser VAR_001228
4 ATRX p.Cys220Arg VAR_001229
5 ATRX p.Trp222Ser VAR_001230
6 ATRX p.Cys243Phe VAR_001231
7 ATRX p.Arg246Cys VAR_001232
8 ATRX p.Gly249Asp VAR_001233
9 ATRX p.His1609Arg VAR_001234
10 ATRX p.Cys1614Arg VAR_001235
11 ATRX p.Lys1650Asn VAR_001236
12 ATRX p.Asp2035Val VAR_001238
13 ATRX p.Tyr2084His VAR_001239
14 ATRX p.Tyr2163Cys VAR_001241
15 ATRX p.Arg246Leu VAR_010914
16 ATRX p.Gly175Glu VAR_012113
17 ATRX p.Asn179Ser VAR_012115
18 ATRX p.Pro190Leu VAR_012116
19 ATRX p.Pro190Ser VAR_012117
20 ATRX p.Val194Ile VAR_012118
21 ATRX p.Gln219Pro VAR_012119
22 ATRX p.Gly249Cys VAR_012120
23 ATRX p.Val1552Phe VAR_012122
24 ATRX p.Leu1645Ser VAR_012123
25 ATRX p.Pro1713Ser VAR_012124
26 ATRX p.Arg1742Lys VAR_012125
27 ATRX p.Tyr1847Cys VAR_012126
28 ATRX p.Thr1621Met VAR_016916

ClinVar genetic disease variations for Alpha-Thalassemia/mental Retardation Syndrome:

6 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1 ATRX NM_000489.4(ATRX): c.4826A> G (p.His1609Arg) single nucleotide variant Pathogenic rs122445093 GRCh37 Chromosome X, 76889184: 76889184
2 ATRX NM_000489.4(ATRX): c.4840T> C (p.Cys1614Arg) single nucleotide variant Pathogenic rs122445094 GRCh37 Chromosome X, 76889170: 76889170
3 ATRX NM_000489.4(ATRX): c.4950G> T (p.Lys1650Asn) single nucleotide variant Pathogenic rs122445095 GRCh37 Chromosome X, 76889060: 76889060
4 ATRX NM_000489.4(ATRX): c.6104A> T (p.Asp2035Val) single nucleotide variant Pathogenic rs122445096 GRCh37 Chromosome X, 76849172: 76849172
5 ATRX NM_000489.4(ATRX): c.6250T> C (p.Tyr2084His) single nucleotide variant Pathogenic rs122445097 GRCh37 Chromosome X, 76829791: 76829791
6 ATRX NM_000489.4(ATRX): c.6488A> G (p.Tyr2163Cys) single nucleotide variant Pathogenic rs122445098 GRCh37 Chromosome X, 76814156: 76814156
7 ATRX NM_000489.4(ATRX): c.7156C> T (p.Arg2386Ter) single nucleotide variant Pathogenic rs122445099 GRCh37 Chromosome X, 76776310: 76776310
8 ATRX NM_000489.4(ATRX): c.7162G> T (p.Glu2388Ter) single nucleotide variant Pathogenic rs122445100 GRCh37 Chromosome X, 76776304: 76776304
9 ATRX ATRX, IVSAS, T-A, -10 single nucleotide variant Pathogenic
10 ATRX NM_000489.4(ATRX): c.6392G> A (p.Arg2131Gln) single nucleotide variant Pathogenic rs122445101 GRCh37 Chromosome X, 76814252: 76814252
11 ATRX ATRX, 751A-G single nucleotide variant Pathogenic
12 ATRX NM_000489.4(ATRX): c.568C> G (p.Pro190Ala) single nucleotide variant Pathogenic/Likely pathogenic rs122445103 GRCh37 Chromosome X, 76944337: 76944337
13 ATRX NM_000489.4(ATRX): c.5225G> A (p.Arg1742Lys) single nucleotide variant Pathogenic rs122445104 GRCh37 Chromosome X, 76875910: 76875910
14 ATRX NM_000489.4(ATRX): c.4862C> T (p.Thr1621Met) single nucleotide variant Pathogenic rs122445106 GRCh37 Chromosome X, 76889148: 76889148
15 ATRX NM_000489.4(ATRX): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs122445108 GRCh37 Chromosome X, 76972632: 76972632
16 ATRX NM_000489.4(ATRX): c.7366_7367delAT (p.Met2456Glufs) deletion Pathogenic/Likely pathogenic rs797044723 GRCh37 Chromosome X, 76763941: 76763942
17 ATRX NM_000489.4(ATRX): c.4626_4631delTGAAGA (p.Asp1542_Glu1543del) deletion Likely pathogenic rs797045406 GRCh38 Chromosome X, 77635983: 77635988
18 ATRX NM_000489.4(ATRX): c.1753G> T (p.Glu585Ter) single nucleotide variant Pathogenic rs886044898 GRCh37 Chromosome X, 76938995: 76938995
19 ATRX NM_000489.4(ATRX): c.569C> T (p.Pro190Leu) single nucleotide variant Likely pathogenic rs1057518708 GRCh38 Chromosome X, 77688843: 77688843
20 ATRX NM_000489.4(ATRX): c.6122G> A (p.Ser2041Asn) single nucleotide variant Pathogenic rs1060499658 GRCh37 Chromosome X, 76845399: 76845399
21 ATRX NM_000489.4(ATRX): c.4865C> T (p.Ala1622Val) single nucleotide variant Pathogenic rs1135401793 GRCh38 Chromosome X, 77633657: 77633657

Copy number variations for Alpha-Thalassemia/mental Retardation Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 264553 X 67700000 76000000 Microdeletion ATR-X Syndrome

Expression for Alpha-Thalassemia/mental Retardation Syndrome

Search GEO for disease gene expression data for Alpha-Thalassemia/mental Retardation Syndrome.

Pathways for Alpha-Thalassemia/mental Retardation Syndrome

GO Terms for Alpha-Thalassemia/mental Retardation Syndrome

Cellular components related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.43 ATRX MRE11 XRCC5
2 chromosome, telomeric region GO:0000781 9.32 ATRX MRE11
3 pericentric heterochromatin GO:0005721 9.16 ATRX HELLS
4 PML body GO:0016605 9.13 ATRX MRE11 RPA1
5 nuclear chromosome, telomeric region GO:0000784 8.92 ATRX MRE11 RPA1 XRCC5

Biological processes related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.56 ATRX MRE11 RPA1 XRCC5
2 DNA replication GO:0006260 9.54 MRE11 RPA1
3 regulation of signal transduction by p53 class mediator GO:1901796 9.52 MRE11 RPA1
4 double-strand break repair via homologous recombination GO:0000724 9.51 MRE11 RPA1
5 double-strand break repair via nonhomologous end joining GO:0006303 9.49 MRE11 XRCC5
6 double-strand break repair GO:0006302 9.48 MRE11 XRCC5
7 positive regulation of type I interferon production GO:0032481 9.46 MRE11 XRCC5
8 DNA repair GO:0006281 9.46 ATRX MRE11 RPA1 XRCC5
9 telomere maintenance GO:0000723 9.43 RPA1 XRCC5
10 DNA methylation GO:0006306 9.4 ATRX HELLS
11 protein localization to chromosome, telomeric region GO:0070198 9.37 ATRX XRCC5
12 positive regulation of telomere maintenance GO:0032206 9.32 ATRX MRE11
13 DNA duplex unwinding GO:0032508 9.13 ATRX MRE11 XRCC5
14 DNA recombination GO:0006310 8.92 ATRX MRE11 RPA1 XRCC5

Molecular functions related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.67 ATRX MRE11 RPA1 XRCC5
2 hydrolase activity GO:0016787 9.56 ATRX HELLS MRE11 XRCC5
3 double-stranded DNA binding GO:0003690 9.32 MRE11 XRCC5
4 damaged DNA binding GO:0003684 9.16 RPA1 XRCC5
5 ATP-dependent DNA helicase activity GO:0004003 8.96 MRE11 XRCC5
6 helicase activity GO:0004386 8.8 ATRX HELLS XRCC5

Sources for Alpha-Thalassemia/mental Retardation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....