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NBLST3
MCID: NRB014
MIFTS: 19

Neuroblastoma 3 (NBLST3)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications
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Aliases & Classifications for Neuroblastoma 3

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MalaCards integrated aliases for Neuroblastoma 3:

Name: Neuroblastoma 3 58 76 30 6
Neuroblastoma, Susceptibility to, 3 58 13
Nblst3 58 76
Neuroblastoma, Susceptibility to, Type 3 41

Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 58 613014
MeSH 45 D009447
MedGen 43 C2751681
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Summaries for Neuroblastoma 3

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UniProtKB/Swiss-Prot : 76 Neuroblastoma 3: A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system.

MalaCards based summary : Neuroblastoma 3, is also known as neuroblastoma, susceptibility to, 3. An important gene associated with Neuroblastoma 3 is ALK (ALK Receptor Tyrosine Kinase). Affiliated tissues include bone and bone marrow.

Description from OMIM: 613014
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Related Diseases for Neuroblastoma 3

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Diseases in the Neuroblastoma 1 family:

Neuroblastoma 2 Neuroblastoma 3
Neuroblastoma 4 Neuroblastoma 5
Neuroblastoma 6 Neuroblastoma 7

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Symptoms & Phenotypes for Neuroblastoma 3

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Clinical features from OMIM:

613014
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Drugs & Therapeutics for Neuroblastoma 3

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Search Clinical Trials , NIH Clinical Center for Neuroblastoma 3

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Genetic Tests for Neuroblastoma 3

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Genetic tests related to Neuroblastoma 3:

# Genetic test Affiliating Genes
1 Neuroblastoma 3 30 ALK
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Anatomical Context for Neuroblastoma 3

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MalaCards organs/tissues related to Neuroblastoma 3:

42
Bone, Bone Marrow
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Publications for Neuroblastoma 3

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Articles related to Neuroblastoma 3:

# Title Authors Year
1
ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome. ( 22071890 )
2012
2
Oncogenic mutations of ALK kinase in neuroblastoma. ( 18923524 )
2008
3
Activating mutations in ALK provide a therapeutic target in neuroblastoma. ( 18923525 )
2008
4
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. ( 18923523 )
2008
5
Identification of ALK as a major familial neuroblastoma predisposition gene. ( 18724359 )
2008
6
Detection of disseminated tumor cells in neuroblastoma: 3 log improvement in sensitivity by automatic immunofluorescence plus FISH (AIPF) analysis compared with classical bone marrow cytology. ( 12875961 )
2003
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Variations for Neuroblastoma 3

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UniProtKB/Swiss-Prot genetic disease variations for Neuroblastoma 3:

76 (show all 16)
# Symbol AA change Variation ID SNP ID
1 ALK p.Asp1091Asn VAR_063850 rs864309584
2 ALK p.Gly1128Ala VAR_063851 rs113994088
3 ALK p.Thr1151Met VAR_063852 rs113994091
4 ALK p.Met1166Arg VAR_063853 rs105752001
5 ALK p.Ile1171Asn VAR_063854 rs105751969
6 ALK p.Phe1174Cys VAR_063855 rs105751969
7 ALK p.Phe1174Ile VAR_063856 rs281864719
8 ALK p.Phe1174Leu VAR_063857 rs863225281
9 ALK p.Phe1174Val VAR_063858 rs281864719
10 ALK p.Arg1192Pro VAR_063859 rs113994089
11 ALK p.Ala1234Thr VAR_063860
12 ALK p.Phe1245Cys VAR_063861 rs863225283
13 ALK p.Phe1245Val VAR_063862 rs281864720
14 ALK p.Ile1250Thr VAR_063863 rs113994092
15 ALK p.Arg1275Gln VAR_063865 rs113994087
16 ALK p.Tyr1278Ser VAR_063866 rs863225285

ClinVar genetic disease variations for Neuroblastoma 3:

6 (show top 50) (show all 1458)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALK NM_004304.4(ALK): c.3824G> A (p.Arg1275Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994087 GRCh37 Chromosome 2, 29432664: 29432664
2 ALK NM_004304.4(ALK): c.3824G> A (p.Arg1275Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994087 GRCh38 Chromosome 2, 29209798: 29209798
3 ALK NM_004304.4(ALK): c.3383G> C (p.Gly1128Ala) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994088 GRCh37 Chromosome 2, 29445450: 29445450
4 ALK NM_004304.4(ALK): c.3383G> C (p.Gly1128Ala) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994088 GRCh38 Chromosome 2, 29222584: 29222584
5 ALK NM_004304.4(ALK): c.3575G> C (p.Arg1192Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994089 GRCh37 Chromosome 2, 29443642: 29443642
6 ALK NM_004304.4(ALK): c.3575G> C (p.Arg1192Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994089 GRCh38 Chromosome 2, 29220776: 29220776
7 ALK NM_004304.4(ALK): c.3452C> T (p.Thr1151Met) single nucleotide variant Pathogenic,risk factor rs113994091 GRCh37 Chromosome 2, 29445273: 29445273
8 ALK NM_004304.4(ALK): c.3452C> T (p.Thr1151Met) single nucleotide variant Pathogenic,risk factor rs113994091 GRCh38 Chromosome 2, 29222407: 29222407
9 ALK NM_004304.4(ALK): c.3520T> G (p.Phe1174Val) single nucleotide variant Pathogenic rs281864719 GRCh37 Chromosome 2, 29443697: 29443697
10 ALK NM_004304.4(ALK): c.3520T> G (p.Phe1174Val) single nucleotide variant Pathogenic rs281864719 GRCh38 Chromosome 2, 29220831: 29220831
11 ALK NM_004304.4(ALK): c.3733T> G (p.Phe1245Val) single nucleotide variant Pathogenic rs281864720 GRCh37 Chromosome 2, 29436860: 29436860
12 ALK NM_004304.4(ALK): c.3733T> G (p.Phe1245Val) single nucleotide variant Pathogenic rs281864720 GRCh38 Chromosome 2, 29213994: 29213994
13 ALK NM_004304.4(ALK): c.3635G> A (p.Arg1212His) single nucleotide variant Uncertain significance rs143790259 GRCh37 Chromosome 2, 29443582: 29443582
14 ALK NM_004304.4(ALK): c.3635G> A (p.Arg1212His) single nucleotide variant Uncertain significance rs143790259 GRCh38 Chromosome 2, 29220716: 29220716
15 ALK NM_004304.4(ALK): c.3635G> A (p.Arg1212His) single nucleotide variant Uncertain significance rs143790259 NCBI36 Chromosome 2, 29297086: 29297086
16 ALK NM_004304.4(ALK): c.106C> T (p.Pro36Ser) single nucleotide variant Likely benign rs201490095 GRCh37 Chromosome 2, 30143420: 30143420
17 ALK NM_004304.4(ALK): c.106C> T (p.Pro36Ser) single nucleotide variant Likely benign rs201490095 GRCh38 Chromosome 2, 29920554: 29920554
18 ALK NM_004304.4(ALK): c.522C> A (p.Phe174Leu) single nucleotide variant Uncertain significance rs587778020 GRCh37 Chromosome 2, 30143004: 30143004
19 ALK NM_004304.4(ALK): c.522C> A (p.Phe174Leu) single nucleotide variant Uncertain significance rs587778020 GRCh38 Chromosome 2, 29920138: 29920138
20 ALK NM_004304.4(ALK): c.487G> T (p.Val163Leu) single nucleotide variant Benign/Likely benign rs55697431 GRCh37 Chromosome 2, 30143039: 30143039
21 ALK NM_004304.4(ALK): c.487G> T (p.Val163Leu) single nucleotide variant Benign/Likely benign rs55697431 GRCh38 Chromosome 2, 29920173: 29920173
22 ALK NM_004304.4(ALK): c.592G> A (p.Val198Met) single nucleotide variant Benign rs77677701 GRCh37 Chromosome 2, 30142934: 30142934
23 ALK NM_004304.4(ALK): c.592G> A (p.Val198Met) single nucleotide variant Benign rs77677701 GRCh38 Chromosome 2, 29920068: 29920068
24 ALK NM_004304.4(ALK): c.1943C> T (p.Thr648Ile) single nucleotide variant Benign/Likely benign rs116202066 GRCh37 Chromosome 2, 29498063: 29498063
25 ALK NM_004304.4(ALK): c.1943C> T (p.Thr648Ile) single nucleotide variant Benign/Likely benign rs116202066 GRCh38 Chromosome 2, 29275197: 29275197
26 ALK NM_004304.4(ALK): c.2039C> T (p.Thr680Ile) single nucleotide variant Benign/Likely benign rs35228363 GRCh37 Chromosome 2, 29497967: 29497967
27 ALK NM_004304.4(ALK): c.2039C> T (p.Thr680Ile) single nucleotide variant Benign/Likely benign rs35228363 GRCh38 Chromosome 2, 29275101: 29275101
28 ALK NM_004304.4(ALK): c.2127C> A (p.Asn709Lys) single nucleotide variant Benign/Likely benign rs376175333 GRCh37 Chromosome 2, 29474048: 29474048
29 ALK NM_004304.4(ALK): c.2127C> A (p.Asn709Lys) single nucleotide variant Benign/Likely benign rs376175333 GRCh38 Chromosome 2, 29251182: 29251182
30 ALK NM_004304.4(ALK): c.2577G> C (p.Glu859Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61754865 GRCh37 Chromosome 2, 29455225: 29455225
31 ALK NM_004304.4(ALK): c.2577G> C (p.Glu859Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61754865 GRCh38 Chromosome 2, 29232359: 29232359
32 ALK NM_004304.4(ALK): c.3035C> T (p.Thr1012Met) single nucleotide variant Benign/Likely benign rs35073634 GRCh37 Chromosome 2, 29449820: 29449820
33 ALK NM_004304.4(ALK): c.3035C> T (p.Thr1012Met) single nucleotide variant Benign/Likely benign rs35073634 GRCh38 Chromosome 2, 29226954: 29226954
34 ALK NM_004304.4(ALK): c.3031G> A (p.Gly1011Arg) single nucleotide variant Uncertain significance rs587778021 GRCh37 Chromosome 2, 29449824: 29449824
35 ALK NM_004304.4(ALK): c.3031G> A (p.Gly1011Arg) single nucleotide variant Uncertain significance rs587778021 GRCh38 Chromosome 2, 29226958: 29226958
36 ALK NM_004304.4(ALK): c.3080C> T (p.Pro1027Leu) single nucleotide variant Likely benign rs140733978 GRCh37 Chromosome 2, 29448419: 29448419
37 ALK NM_004304.4(ALK): c.3080C> T (p.Pro1027Leu) single nucleotide variant Likely benign rs140733978 GRCh38 Chromosome 2, 29225553: 29225553
38 ALK NM_004304.4(ALK): c.3833A> C (p.Tyr1278Ser) single nucleotide variant Pathogenic rs863225285 GRCh38 Chromosome 2, 29209789: 29209789
39 ALK NM_004304.4(ALK): c.3833A> C (p.Tyr1278Ser) single nucleotide variant Pathogenic rs863225285 GRCh37 Chromosome 2, 29432655: 29432655
40 ALK NM_004304.4(ALK): c.3735C> A (p.Phe1245Leu) single nucleotide variant Pathogenic rs863225284 GRCh38 Chromosome 2, 29213992: 29213992
41 ALK NM_004304.4(ALK): c.3735C> A (p.Phe1245Leu) single nucleotide variant Pathogenic rs863225284 GRCh37 Chromosome 2, 29436858: 29436858
42 ALK NM_004304.4(ALK): c.3734T> G (p.Phe1245Cys) single nucleotide variant Pathogenic rs863225283 GRCh38 Chromosome 2, 29213993: 29213993
43 ALK NM_004304.4(ALK): c.3734T> G (p.Phe1245Cys) single nucleotide variant Pathogenic rs863225283 GRCh37 Chromosome 2, 29436859: 29436859
44 ALK NM_004304.4(ALK): c.3733T> A (p.Phe1245Ile) single nucleotide variant Pathogenic/Likely pathogenic rs281864720 GRCh38 Chromosome 2, 29213994: 29213994
45 ALK NM_004304.4(ALK): c.3733T> A (p.Phe1245Ile) single nucleotide variant Pathogenic/Likely pathogenic rs281864720 GRCh37 Chromosome 2, 29436860: 29436860
46 ALK NM_004304.4(ALK): c.3718T> G (p.Leu1240Val) single nucleotide variant Likely pathogenic rs863225282 GRCh38 Chromosome 2, 29214009: 29214009
47 ALK NM_004304.4(ALK): c.3718T> G (p.Leu1240Val) single nucleotide variant Likely pathogenic rs863225282 GRCh37 Chromosome 2, 29436875: 29436875
48 ALK NM_004304.4(ALK): c.3685G> A (p.Val1229Met) single nucleotide variant Uncertain significance rs776228721 GRCh38 Chromosome 2, 29214042: 29214042
49 ALK NM_004304.4(ALK): c.3685G> A (p.Val1229Met) single nucleotide variant Uncertain significance rs776228721 GRCh37 Chromosome 2, 29436908: 29436908
50 ALK NM_004304.4(ALK): c.3522C> G (p.Phe1174Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225281 GRCh38 Chromosome 2, 29220829: 29220829
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Expression for Neuroblastoma 3

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Search GEO for disease gene expression data for Neuroblastoma 3.
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Pathways for Neuroblastoma 3

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GO Terms for Neuroblastoma 3

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Sources for Neuroblastoma 3

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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