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NBLST3
MCID: NRB014
MIFTS: 20

Neuroblastoma 3 (NBLST3)

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

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MalaCards integrated aliases for Neuroblastoma 3:

Name: Neuroblastoma 3 57 75 29 6
Neuroblastoma, Susceptibility to, 3 57 13
Nblst3 57 75
Neuroblastoma, Susceptibility to, Type 3 40

Classifications:

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


External Ids:

OMIM 57 613014
MedGen 42 C2751681
MeSH 44 D009447
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Summaries for Neuroblastoma 3

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UniProtKB/Swiss-Prot : 75 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, also known as neuroblastoma, susceptibility to, 3, is related to neuroblastoma. 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 family:

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

Diseases related to Neuroblastoma 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuroblastoma 9.7

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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 29 ALK
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Anatomical Context for Neuroblastoma 3

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MalaCards organs/tissues related to Neuroblastoma 3:

41
Bone, Bone Marrow
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Publications for Neuroblastoma 3

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Articles related to Neuroblastoma 3:

# Title Authors Year
1
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:

75 (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 1459)
# 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.3260C> T (p.Thr1087Ile) single nucleotide variant Uncertain significance rs113994090 GRCh37 Chromosome 2, 29446307: 29446307
10 ALK NM_004304.4(ALK): c.3260C> T (p.Thr1087Ile) single nucleotide variant Uncertain significance rs113994090 GRCh38 Chromosome 2, 29223441: 29223441
11 ALK NM_004304.4(ALK): c.3749T> C (p.Ile1250Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994092 GRCh37 Chromosome 2, 29432739: 29432739
12 ALK NM_004304.4(ALK): c.3749T> C (p.Ile1250Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994092 GRCh38 Chromosome 2, 29209873: 29209873
13 Pathogenic nsv491550 deletion 0 rsRCV000021082 21869
14 ALK NM_004304.4(ALK): c.3520T> G (p.Phe1174Val) single nucleotide variant Pathogenic rs281864719 GRCh37 Chromosome 2, 29443697: 29443697
15 ALK NM_004304.4(ALK): c.3520T> G (p.Phe1174Val) single nucleotide variant Pathogenic rs281864719 GRCh38 Chromosome 2, 29220831: 29220831
16 ALK NM_004304.4(ALK): c.3733T> G (p.Phe1245Val) single nucleotide variant Pathogenic rs281864720 GRCh37 Chromosome 2, 29436860: 29436860
17 ALK NM_004304.4(ALK): c.3733T> G (p.Phe1245Val) single nucleotide variant Pathogenic rs281864720 GRCh38 Chromosome 2, 29213994: 29213994
18 ALK NM_004304.4(ALK): c.3635G> A (p.Arg1212His) single nucleotide variant Uncertain significance rs143790259 GRCh37 Chromosome 2, 29443582: 29443582
19 ALK NM_004304.4(ALK): c.3635G> A (p.Arg1212His) single nucleotide variant Uncertain significance rs143790259 GRCh38 Chromosome 2, 29220716: 29220716
20 ALK NM_004304.4(ALK): c.3635G> A (p.Arg1212His) single nucleotide variant Uncertain significance rs143790259 NCBI36 Chromosome 2, 29297086: 29297086
21 ALK NM_004304.4(ALK): c.106C> T (p.Pro36Ser) single nucleotide variant Likely benign rs201490095 GRCh37 Chromosome 2, 30143420: 30143420
22 ALK NM_004304.4(ALK): c.106C> T (p.Pro36Ser) single nucleotide variant Likely benign rs201490095 GRCh38 Chromosome 2, 29920554: 29920554
23 ALK NM_004304.4(ALK): c.522C> A (p.Phe174Leu) single nucleotide variant Uncertain significance rs587778020 GRCh37 Chromosome 2, 30143004: 30143004
24 ALK NM_004304.4(ALK): c.522C> A (p.Phe174Leu) single nucleotide variant Uncertain significance rs587778020 GRCh38 Chromosome 2, 29920138: 29920138
25 ALK NM_004304.4(ALK): c.487G> T (p.Val163Leu) single nucleotide variant Benign/Likely benign rs55697431 GRCh37 Chromosome 2, 30143039: 30143039
26 ALK NM_004304.4(ALK): c.487G> T (p.Val163Leu) single nucleotide variant Benign/Likely benign rs55697431 GRCh38 Chromosome 2, 29920173: 29920173
27 ALK NM_004304.4(ALK): c.592G> A (p.Val198Met) single nucleotide variant Benign rs77677701 GRCh37 Chromosome 2, 30142934: 30142934
28 ALK NM_004304.4(ALK): c.592G> A (p.Val198Met) single nucleotide variant Benign rs77677701 GRCh38 Chromosome 2, 29920068: 29920068
29 ALK NM_004304.4(ALK): c.1943C> T (p.Thr648Ile) single nucleotide variant Benign/Likely benign rs116202066 GRCh37 Chromosome 2, 29498063: 29498063
30 ALK NM_004304.4(ALK): c.1943C> T (p.Thr648Ile) single nucleotide variant Benign/Likely benign rs116202066 GRCh38 Chromosome 2, 29275197: 29275197
31 ALK NM_004304.4(ALK): c.2039C> T (p.Thr680Ile) single nucleotide variant Benign/Likely benign rs35228363 GRCh37 Chromosome 2, 29497967: 29497967
32 ALK NM_004304.4(ALK): c.2039C> T (p.Thr680Ile) single nucleotide variant Benign/Likely benign rs35228363 GRCh38 Chromosome 2, 29275101: 29275101
33 ALK NM_004304.4(ALK): c.2127C> A (p.Asn709Lys) single nucleotide variant Benign/Likely benign rs376175333 GRCh37 Chromosome 2, 29474048: 29474048
34 ALK NM_004304.4(ALK): c.2127C> A (p.Asn709Lys) single nucleotide variant Benign/Likely benign rs376175333 GRCh38 Chromosome 2, 29251182: 29251182
35 ALK NM_004304.4(ALK): c.2577G> C (p.Glu859Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61754865 GRCh37 Chromosome 2, 29455225: 29455225
36 ALK NM_004304.4(ALK): c.2577G> C (p.Glu859Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61754865 GRCh38 Chromosome 2, 29232359: 29232359
37 ALK NM_004304.4(ALK): c.3035C> T (p.Thr1012Met) single nucleotide variant Benign/Likely benign rs35073634 GRCh37 Chromosome 2, 29449820: 29449820
38 ALK NM_004304.4(ALK): c.3035C> T (p.Thr1012Met) single nucleotide variant Benign/Likely benign rs35073634 GRCh38 Chromosome 2, 29226954: 29226954
39 ALK NM_004304.4(ALK): c.3031G> A (p.Gly1011Arg) single nucleotide variant Uncertain significance rs587778021 GRCh37 Chromosome 2, 29449824: 29449824
40 ALK NM_004304.4(ALK): c.3031G> A (p.Gly1011Arg) single nucleotide variant Uncertain significance rs587778021 GRCh38 Chromosome 2, 29226958: 29226958
41 ALK NM_004304.4(ALK): c.3080C> T (p.Pro1027Leu) single nucleotide variant Likely benign rs140733978 GRCh37 Chromosome 2, 29448419: 29448419
42 ALK NM_004304.4(ALK): c.3080C> T (p.Pro1027Leu) single nucleotide variant Likely benign rs140733978 GRCh38 Chromosome 2, 29225553: 29225553
43 ALK NM_004304.4(ALK): c.3139G> A (p.Ala1047Thr) single nucleotide variant Likely benign rs370049091 GRCh37 Chromosome 2, 29448360: 29448360
44 ALK NM_004304.4(ALK): c.3139G> A (p.Ala1047Thr) single nucleotide variant Likely benign rs370049091 GRCh38 Chromosome 2, 29225494: 29225494
45 ALK NM_004304.4(ALK): c.776G> A (p.Arg259His) single nucleotide variant Benign/Likely benign rs138686378 GRCh37 Chromosome 2, 29940455: 29940455
46 ALK NM_004304.4(ALK): c.776G> A (p.Arg259His) single nucleotide variant Benign/Likely benign rs138686378 GRCh38 Chromosome 2, 29717589: 29717589
47 ALK NM_004304.4(ALK): c.3182G> A (p.Arg1061Gln) single nucleotide variant Uncertain significance rs72852032 GRCh37 Chromosome 2, 29446385: 29446385
48 ALK NM_004304.4(ALK): c.3182G> A (p.Arg1061Gln) single nucleotide variant Uncertain significance rs72852032 GRCh38 Chromosome 2, 29223519: 29223519
49 ALK NM_004304.4(ALK): c.4303_4305delGAG (p.Glu1435del) deletion Benign/Likely benign rs138827116 GRCh37 Chromosome 2, 29416648: 29416650
50 ALK NM_004304.4(ALK): c.4303_4305delGAG (p.Glu1435del) deletion Benign/Likely benign rs138827116 GRCh38 Chromosome 2, 29193782: 29193784
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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 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
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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