ATRX
MCID: ALP014
MIFTS: 51

Alpha-Thalassemia/mental Retardation Syndrome (ATRX) malady

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

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Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Alpha-Thalassemia/mental Retardation Syndrome:

Name: Alpha-Thalassemia/mental Retardation Syndrome 52 12
Atr-X Syndrome 54 70 50
Atr-X 70 27
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked 68
Alpha-Thalassemia/mental Retardation Syndrome Non-Deletion Type X-Linked 70
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome 54
 
Alpha-Thalassemia Mental Retardation Syndrome, X-Linked 70
Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 52
Alpha Thalassemia-Mental Retardation Syndrome 68
Mental Retardation, X-Linked 39
Atr Nondeletion Type 70
Atrx 70

Characteristics:

Orphanet epidemiological data:

54
atr-x syndrome:
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal

HPO:

64
alpha-thalassemia/mental retardation syndrome:
Inheritance: x-linked dominant inheritance
Onset and clinical course: phenotypic variability
Mortality/Aging: death in infancy

Classifications:



External Ids:

OMIM52 301040
Orphanet54 ORPHA847
UMLS via Orphanet69 C1845055
ICD10 via Orphanet31 D56.0
MedGen37 C1845055
MeSH39 D038901

Summaries for Alpha-Thalassemia/mental Retardation Syndrome

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UniProtKB/Swiss-Prot:70 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 constipation, constipation and Array. An important gene associated with Alpha-Thalassemia/mental Retardation Syndrome is ATRX (ATRX, Chromatin Remodeler), and among its related pathways are BRCA1 Pathway and Pathways Affected in Adenoid Cystic Carcinoma. Affiliated tissues include tongue and kidney, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and pigmentation.

Description from OMIM:52 301040

Related Diseases for Alpha-Thalassemia/mental Retardation Syndrome

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

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation-hypotonic facies syndrome, x-linked30.5ATRX, HBA2, HELLS, NBN, PRKDC, RAD9A
2mental retardation, x-linked, syndromic 1512.5
3mental retardation, x-linked 29 and others12.4
4mental retardation, x-linked, syndromic 1312.4
5mental retardation, x-linked syndromic, nascimento-type12.4
6mental retardation, x-linked, with isolated growth hormone deficiency12.4
7mental retardation, x-linked syndromic, turner type12.4
8mental retardation, x-linked syndromic, raymond type12.4
9mental retardation, x-linked syndromic, christianson type12.4
10mental retardation, x-linked, syndromic 3212.4
11mental retardation, x-linked syndromic, lubs type12.4
12alpha-thalassemia/mental retardation syndrome, chromosome 16-related12.4
13mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance12.4
14mental retardation, x-linked 30/4712.4
15mental retardation, x-linked, fraxe type12.4
16mental retardation, x-linked 312.4
17mental retardation, x-linked, syndromic, martin-probst type12.4
18mental retardation, x-linked 4912.4
19mental retardation, x-linked, syndromic, hedera type12.4
20mental retardation, x-linked 9912.4
21mental retardation, x-linked 9212.4
22mental retardation, x-linked 9612.4
23mental retardation, x-linked, syndromic, claes-jensen type12.4
24mental retardation, x-linked 10112.4
25mental retardation, x-linked 12/3512.4
26mental retardation, x-linked 10212.3
27mental retardation, x-linked 9812.3
28mental retardation, x-linked 9712.3
29mental retardation, x-linked 10012.3
30mental retardation, x-linked, syndromic, wu type12.3
31mental retardation, x-linked 10412.3
32mental retardation, x-linked, syndromic, 3312.3
33mental retardation, x-linked, syndromic, borck type12.3
34mental retardation, x-linked, syndromic, bain type12.3
35mental retardation, x-linked 6112.3
36mental retardation, x-linked 10512.3
37mental retardation, x-linked syndromic 512.2
38mental retardation, x-linked, snyder-robinson type12.2
39mental retardation, x-linked, syndromic 1712.1
40mental retardation, x-linked, syndromic 912.1
41mental retardation, x-linked, syndromic, chudley-schwartz type12.1
42mental retardation, x-linked, syndromic, wilson-turner type12.1
43mental retardation, x-linked, with craniofacial dysmorphism12.1
44mental retardation, x-linked, with growth hormone deficiency12.1
45mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor12.1
46mental retardation, x-linked 7312.0
47mental retardation, x-linked 5012.0
48mental retardation, x-linked 5312.0
49mental retardation, x-linked 2312.0
50mental retardation, x-linked 4212.0

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

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Symptoms by clinical synopsis from OMIM:

301040

Clinical features from OMIM:

301040

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

 54 64 (show all 86)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent urinary tract infections64 54 Occasional (29-5%) HP:0000010
2 cryptorchidism64 54 Very frequent (99-80%) HP:0000028
3 male pseudohermaphroditism64 54 Very frequent (99-80%) HP:0000037
4 ambiguous genitalia64 54 Very frequent (99-80%) HP:0000062
5 abnormality of the kidney54 Occasional (29-5%)
6 hydronephrosis64 54 Occasional (29-5%) HP:0000126
7 macroglossia64 54 Frequent (79-30%) HP:0000158
8 abnormality of the teeth64 54 Occasional (29-5%) HP:0000164
9 thick lower lip vermilion64 54 Frequent (79-30%) HP:0000179
10 everted lower lip vermilion64 54 Frequent (79-30%) HP:0000232
11 microcephaly64 54 Very frequent (99-80%) HP:0000252
12 abnormality of the face54 Very frequent (99-80%)
13 epicanthus64 54 Frequent (79-30%) HP:0000286
14 hypertelorism64 54 Very frequent (99-80%) HP:0000316
15 sensorineural hearing impairment64 54 Occasional (29-5%) HP:0000407
16 depressed nasal ridge64 54 Frequent (79-30%) HP:0000457
17 anteverted nares64 54 Frequent (79-30%) HP:0000463
18 telecanthus64 54 Frequent (79-30%) HP:0000506
19 myopia64 54 Occasional (29-5%) HP:0000545
20 blindness64 54 Occasional (29-5%) HP:0000618
21 optic atrophy64 54 Occasional (29-5%) HP:0000648
22 behavioral abnormality54 Very frequent (99-80%)
23 depression64 54 Occasional (29-5%) HP:0000716
24 autism64 54 Frequent (79-30%) HP:0000717
25 brachydactyly syndrome64 54 Occasional (29-5%) HP:0001156
26 intellectual disability64 54 Very frequent (99-80%) HP:0001249
27 seizures64 54 Frequent (79-30%) HP:0001250
28 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
29 spastic paraplegia64 54 Occasional (29-5%) HP:0001258
30 agenesis of corpus callosum64 54 Occasional (29-5%) HP:0001274
31 flexion contracture64 54 Occasional (29-5%) HP:0001371
32 joint stiffness64 54 Occasional (29-5%) HP:0001387
33 death in infancy54 Occasional (29-5%)
34 talipes equinovarus64 54 Frequent (79-30%) HP:0001762
35 anemia64 54 Occasional (29-5%) HP:0001903
36 nausea and vomiting64 54 Occasional (29-5%) HP:0002017
37 constipation64 54 Occasional (29-5%) HP:0002019
38 gastroesophageal reflux64 54 Very frequent (99-80%) HP:0002020
39 cerebral cortical atrophy64 54 Occasional (29-5%) HP:0002120
40 aganglionic megacolon64 54 Occasional (29-5%) HP:0002251
41 dysphasia64 54 Very frequent (99-80%) HP:0002357
42 encephalitis64 54 Occasional (29-5%) HP:0002383
43 volvulus64 54 Occasional (29-5%) HP:0002580
44 clinodactyly of the 5th finger64 54 Occasional (29-5%) HP:0004209
45 short stature64 54 Frequent (79-30%) HP:0004322
46 hypoplasia of penis64 54 Frequent (79-30%) HP:0008736
47 feeding difficulties in infancy64 54 Occasional (29-5%) HP:0008872
48 abnormality of the male genitalia54 Very frequent (99-80%)
49 tented upper lip vermilion64 54 Frequent (79-30%) HP:0010804
50 u-shaped upper lip vermilion64 54 Frequent (79-30%) HP:0010806
51 abnormality of fontanelles64 54 Very frequent (99-80%) HP:0011328
52 midface retrusion64 54 Frequent (79-30%) HP:0011800
53 abnormal hemoglobin64 54 Frequent (79-30%) HP:0011902
54 flat face64 54 Very frequent (99-80%) HP:0012368
55 profound global developmental delay64 54 Very frequent (99-80%) HP:0012736
56 abnormality of movement64 54 Occasional (29-5%) HP:0100022
57 self-injurious behavior64 54 Occasional (29-5%) HP:0100716
58 hypospadias64 HP:0000047
59 shawl scrotum64 HP:0000049
60 micropenis64 HP:0000054
61 renal agenesis64 HP:0000104
62 malar flattening64 HP:0000272
63 posteriorly rotated ears64 HP:0000358
64 low-set ears64 HP:0000369
65 tapered finger64 HP:0001182
66 spasticity64 HP:0001257
67 global developmental delay64 HP:0001263
68 umbilical hernia64 HP:0001537
69 widely-spaced maxillary central incisors64 HP:0001566
70 abnormality of metabolism/homeostasis64 HP:0001939
71 cerebral atrophy64 HP:0002059
72 coxa valga64 HP:0002673
73 absent frontal sinuses64 HP:0002688
74 kyphoscoliosis64 HP:0002751
75 hemivertebrae64 HP:0002937
76 short nose64 HP:0003196
77 hypochromic microcytic anemia64 HP:0004840
78 depressed nasal bridge64 HP:0005280
79 microtia64 HP:0008551
80 postnatal growth retardation64 HP:0008897
81 infantile muscular hypotonia64 HP:0008947
82 radial deviation of finger64 HP:0009466
83 protruding tongue64 HP:0010808
84 perimembranous ventricular septal defect64 HP:0011682
85 reduced alpha/beta synthesis ratio64 HP:0011907
86 clinodactyly64 HP:0030084

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
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.2HELLS, RAD9A

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1HELLS, PRKDC, RAD9A
2MP:00053808.7ATRX, HELLS, NBN, RAD9A
3MP:00053867.9ATRX, HELLS, NBN, PRKDC, RAD9A
4MP:00053847.8ATRX, HELLS, NBN, PRKDC, RAD9A
5MP:00107687.3ATRX, HBA2, HELLS, NBN, PRKDC, RAD9A

Drugs & Therapeutics for Alpha-Thalassemia/mental Retardation Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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

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

id Genetic test Affiliating Genes
1 Atr-X Syndrome27

Anatomical Context for Alpha-Thalassemia/mental Retardation Syndrome

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

36
Tongue, Kidney

Publications for Alpha-Thalassemia/mental Retardation Syndrome

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Articles related to Alpha-Thalassemia/mental Retardation Syndrome:

(show all 21)
idTitleAuthorsYear
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
Alpha-thalassemia/mental retardation syndrome in a 45,X male. (15633163)
2005
8
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
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
The alpha-thalassemia/mental retardation syndromes. (8606626)
1996
13
Self-induced vomiting in X-linked alpha-thalassemia/mental retardation syndrome. (8967323)
1996
14
A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report. (8996969)
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
X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq. (8166423)
1993
18
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). (8460633)
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. I. Cases due to deletions involving chromosome band 16p13.3. (2339704)
1990
21
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. (2339705)
1990

Variations for Alpha-Thalassemia/mental Retardation Syndrome

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

70 (show all 28)
id Symbol AA change Variation ID SNP ID
1ATRXp.Pro190AlaVAR_001226
2ATRXp.Leu192PheVAR_001227
3ATRXp.Cys200SerVAR_001228
4ATRXp.Cys220ArgVAR_001229
5ATRXp.Trp222SerVAR_001230
6ATRXp.Cys243PheVAR_001231
7ATRXp.Arg246CysVAR_001232
8ATRXp.Gly249AspVAR_001233
9ATRXp.His1609ArgVAR_001234
10ATRXp.Cys1614ArgVAR_001235
11ATRXp.Lys1650AsnVAR_001236
12ATRXp.Asp2035ValVAR_001238
13ATRXp.Tyr2084HisVAR_001239
14ATRXp.Tyr2163CysVAR_001241
15ATRXp.Arg246LeuVAR_010914
16ATRXp.Gly175GluVAR_012113
17ATRXp.Asn179SerVAR_012115
18ATRXp.Pro190LeuVAR_012116
19ATRXp.Pro190SerVAR_012117
20ATRXp.Val194IleVAR_012118
21ATRXp.Gln219ProVAR_012119
22ATRXp.Gly249CysVAR_012120
23ATRXp.Val1552PheVAR_012122
24ATRXp.Leu1645SerVAR_012123
25ATRXp.Pro1713SerVAR_012124
26ATRXp.Arg1742LysVAR_012125
27ATRXp.Tyr1847CysVAR_012126
28ATRXp.Thr1621MetVAR_016916

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

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1ATRXNM_ 000489.4(ATRX): c.4826A> G (p.His1609Arg)SNVPathogenicrs122445093GRCh37Chr X, 76889184: 76889184
2ATRXNM_ 000489.4(ATRX): c.4840T> C (p.Cys1614Arg)SNVPathogenicrs122445094GRCh37Chr X, 76889170: 76889170
3ATRXNM_ 000489.4(ATRX): c.4950G> T (p.Lys1650Asn)SNVPathogenicrs122445095GRCh37Chr X, 76889060: 76889060
4ATRXNM_ 000489.4(ATRX): c.6104A> T (p.Asp2035Val)SNVPathogenicrs122445096GRCh37Chr X, 76849172: 76849172
5ATRXNM_ 000489.4(ATRX): c.6250T> C (p.Tyr2084His)SNVPathogenicrs122445097GRCh37Chr X, 76829791: 76829791
6ATRXNM_ 000489.4(ATRX): c.6488A> G (p.Tyr2163Cys)SNVPathogenicrs122445098GRCh37Chr X, 76814156: 76814156
7ATRXNM_ 000489.4(ATRX): c.7156C> T (p.Arg2386Ter)SNVPathogenicrs122445099GRCh37Chr X, 76776310: 76776310
8ATRXNM_ 000489.4(ATRX): c.7162G> T (p.Glu2388Ter)SNVPathogenicrs122445100GRCh37Chr X, 76776304: 76776304
9ATRXATRX, IVSAS, T-A, -10SNVPathogenic
10ATRXNM_ 000489.4(ATRX): c.6392G> A (p.Arg2131Gln)SNVPathogenicrs122445101GRCh37Chr X, 76814252: 76814252
11ATRXATRX, 751A-GSNVPathogenic
12ATRXNM_ 000489.4(ATRX): c.568C> G (p.Pro190Ala)SNVPathogenic/ Likely pathogenicrs122445103GRCh37Chr X, 76944337: 76944337
13ATRXNM_ 000489.4(ATRX): c.5225G> A (p.Arg1742Lys)SNVPathogenicrs122445104GRCh37Chr X, 76875910: 76875910
14ATRXNM_ 000489.4(ATRX): c.4862C> T (p.Thr1621Met)SNVPathogenicrs122445106GRCh37Chr X, 76889148: 76889148
15ATRXNM_ 000489.4(ATRX): c.109C> T (p.Arg37Ter)SNVPathogenicrs122445108GRCh37Chr X, 76972632: 76972632
16ATRXNM_ 000489.4(ATRX): c.7366_ 7367delAT (p.Met2456Glufs)deletionPathogenic/ Likely pathogenicrs797044723GRCh37Chr X, 76763941: 76763942
17ATRXNM_ 000489.4(ATRX): c.4626_ 4631delTGAAGA (p.Asp1542_ Glu1543del)deletionLikely pathogenicrs797045406GRCh38Chr X, 77635983: 77635988
18ATRXNM_ 000489.4(ATRX): c.1753G> T (p.Glu585Ter)SNVPathogenicrs886044898GRCh37Chr X, 76938995: 76938995
19ATRXNM_ 000489.4(ATRX): c.569C> T (p.Pro190Leu)SNVLikely pathogenicrs1057518708GRCh38Chr X, 77688843: 77688843
20ATRXNM_ 000489.4(ATRX): c.6122G> A (p.Ser2041Asn)SNVPathogenicrs1060499658GRCh37Chr X, 76845399: 76845399

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

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1264553X6770000076000000MicrodeletionATR-X Syndrome

Expression for genes affiliated with Alpha-Thalassemia/mental Retardation Syndrome

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

Pathways for genes affiliated with Alpha-Thalassemia/mental Retardation Syndrome

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GO Terms for genes affiliated with Alpha-Thalassemia/mental Retardation Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1chromosome, telomeric regionGO:000078110.1ATRX, NBN
2pericentric heterochromatinGO:000572110.1ATRX, HELLS
3PML bodyGO:00166059.5ATRX, NBN
4nuclear chromosome, telomeric regionGO:00007849.5ATRX, NBN, PRKDC

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1DNA methylationGO:000630610.3ATRX, HELLS
2DNA damage response, signal transduction by p53 class mediatorGO:003033010.2ATRX, NBN
3DNA duplex unwindingGO:003250810.2ATRX, NBN
4DNA recombinationGO:000631010.1ATRX, PRKDC
5positive regulation of telomere maintenanceGO:003220610.1ATRX, NBN
6double-strand break repairGO:00063029.9NBN, PRKDC
7double-strand break repair via nonhomologous end joiningGO:00063039.9NBN, PRKDC
8DNA damage checkpointGO:00000779.8NBN, RAD9A
9regulation of signal transduction by p53 class mediatorGO:19017969.6NBN, RAD9A
10telomere maintenanceGO:00007239.3NBN, PRKDC
11cellular response to DNA damage stimulusGO:00069748.8ATRX, NBN, PRKDC, RAD9A
12DNA repairGO:00062818.7ATRX, NBN, PRKDC, RAD9A

Sources for Alpha-Thalassemia/mental Retardation Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet