MCID: NRB014
MIFTS: 18

Neuroblastoma 3

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Neuroblastoma 3

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:



External Ids:

OMIM 57 613014
MedGen 42 C2751681
MeSH 44 D009447

Summaries for Neuroblastoma 3

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

Related Diseases for Neuroblastoma 3

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 9.6

Symptoms & Phenotypes for Neuroblastoma 3

Clinical features from OMIM:

613014

Drugs & Therapeutics for Neuroblastoma 3

Search Clinical Trials , NIH Clinical Center for Neuroblastoma 3

Genetic Tests for Neuroblastoma 3

Genetic tests related to Neuroblastoma 3:

# Genetic test Affiliating Genes
1 Neuroblastoma 3 29 ALK

Anatomical Context for Neuroblastoma 3

MalaCards organs/tissues related to Neuroblastoma 3:

41
Bone, Bone Marrow

Publications for Neuroblastoma 3

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

Variations for Neuroblastoma 3

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
5 ALK p.Ile1171Asn VAR_063854
6 ALK p.Phe1174Cys VAR_063855
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 1119)
# 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.3749T> C (p.Ile1250Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994092 GRCh37 Chromosome 2, 29432739: 29432739
10 ALK NM_004304.4(ALK): c.3749T> C (p.Ile1250Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994092 GRCh38 Chromosome 2, 29209873: 29209873
11 ALK NM_004304.4(ALK): c.3520T> G (p.Phe1174Val) single nucleotide variant Pathogenic rs281864719 GRCh37 Chromosome 2, 29443697: 29443697
12 ALK NM_004304.4(ALK): c.3520T> G (p.Phe1174Val) single nucleotide variant Pathogenic rs281864719 GRCh38 Chromosome 2, 29220831: 29220831
13 ALK NM_004304.4(ALK): c.3733T> G (p.Phe1245Val) single nucleotide variant Pathogenic rs281864720 GRCh37 Chromosome 2, 29436860: 29436860
14 ALK NM_004304.4(ALK): c.3733T> G (p.Phe1245Val) single nucleotide variant Pathogenic rs281864720 GRCh38 Chromosome 2, 29213994: 29213994
15 ALK NM_004304.4(ALK): c.3833A> C (p.Tyr1278Ser) single nucleotide variant Pathogenic rs863225285 GRCh38 Chromosome 2, 29209789: 29209789
16 ALK NM_004304.4(ALK): c.3833A> C (p.Tyr1278Ser) single nucleotide variant Pathogenic rs863225285 GRCh37 Chromosome 2, 29432655: 29432655
17 ALK NM_004304.4(ALK): c.3735C> A (p.Phe1245Leu) single nucleotide variant Pathogenic rs863225284 GRCh38 Chromosome 2, 29213992: 29213992
18 ALK NM_004304.4(ALK): c.3735C> A (p.Phe1245Leu) single nucleotide variant Pathogenic rs863225284 GRCh37 Chromosome 2, 29436858: 29436858
19 ALK NM_004304.4(ALK): c.3734T> G (p.Phe1245Cys) single nucleotide variant Pathogenic rs863225283 GRCh38 Chromosome 2, 29213993: 29213993
20 ALK NM_004304.4(ALK): c.3734T> G (p.Phe1245Cys) single nucleotide variant Pathogenic rs863225283 GRCh37 Chromosome 2, 29436859: 29436859
21 ALK NM_004304.4(ALK): c.3733T> A (p.Phe1245Ile) single nucleotide variant Pathogenic/Likely pathogenic rs281864720 GRCh38 Chromosome 2, 29213994: 29213994
22 ALK NM_004304.4(ALK): c.3733T> A (p.Phe1245Ile) single nucleotide variant Pathogenic/Likely pathogenic rs281864720 GRCh37 Chromosome 2, 29436860: 29436860
23 ALK NM_004304.4(ALK): c.3718T> G (p.Leu1240Val) single nucleotide variant Likely pathogenic rs863225282 GRCh38 Chromosome 2, 29214009: 29214009
24 ALK NM_004304.4(ALK): c.3718T> G (p.Leu1240Val) single nucleotide variant Likely pathogenic rs863225282 GRCh37 Chromosome 2, 29436875: 29436875
25 ALK NM_004304.4(ALK): c.3685G> A (p.Val1229Met) single nucleotide variant Uncertain significance rs776228721 GRCh38 Chromosome 2, 29214042: 29214042
26 ALK NM_004304.4(ALK): c.3685G> A (p.Val1229Met) single nucleotide variant Uncertain significance rs776228721 GRCh37 Chromosome 2, 29436908: 29436908
27 ALK NM_004304.4(ALK): c.3522C> G (p.Phe1174Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225281 GRCh38 Chromosome 2, 29220829: 29220829
28 ALK NM_004304.4(ALK): c.3522C> G (p.Phe1174Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225281 GRCh37 Chromosome 2, 29443695: 29443695
29 ALK NM_004304.4(ALK): c.3522C> A (p.Phe1174Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225281 GRCh38 Chromosome 2, 29220829: 29220829
30 ALK NM_004304.4(ALK): c.3522C> A (p.Phe1174Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225281 GRCh37 Chromosome 2, 29443695: 29443695
31 ALK NM_004304.4(ALK): c.3520T> C (p.Phe1174Leu) single nucleotide variant Pathogenic/Likely pathogenic rs281864719 GRCh38 Chromosome 2, 29220831: 29220831
32 ALK NM_004304.4(ALK): c.3520T> C (p.Phe1174Leu) single nucleotide variant Pathogenic/Likely pathogenic rs281864719 GRCh37 Chromosome 2, 29443697: 29443697
33 ALK NM_004304.4(ALK): c.3520T> A (p.Phe1174Ile) single nucleotide variant Pathogenic rs281864719 GRCh38 Chromosome 2, 29220831: 29220831
34 ALK NM_004304.4(ALK): c.3520T> A (p.Phe1174Ile) single nucleotide variant Pathogenic rs281864719 GRCh37 Chromosome 2, 29443697: 29443697
35 ALK NM_004304.4(ALK): c.3271G> A (p.Asp1091Asn) single nucleotide variant Uncertain significance rs864309584 GRCh37 Chromosome 2, 29446296: 29446296
36 ALK NM_004304.4(ALK): c.3271G> A (p.Asp1091Asn) single nucleotide variant Uncertain significance rs864309584 GRCh38 Chromosome 2, 29223430: 29223430
37 ALK NM_004304.4(ALK): c.4811A> G (p.Tyr1604Cys) single nucleotide variant Uncertain significance rs372440265 GRCh37 Chromosome 2, 29416142: 29416142
38 ALK NM_004304.4(ALK): c.4190T> C (p.Leu1397Ser) single nucleotide variant Uncertain significance rs878854656 GRCh38 Chromosome 2, 29193897: 29193897
39 ALK NM_004304.4(ALK): c.4190T> C (p.Leu1397Ser) single nucleotide variant Uncertain significance rs878854656 GRCh37 Chromosome 2, 29416763: 29416763
40 ALK NM_004304.4(ALK): c.3984G> A (p.Met1328Ile) single nucleotide variant Uncertain significance rs540427775 GRCh38 Chromosome 2, 29197631: 29197631
41 ALK NM_004304.4(ALK): c.3984G> A (p.Met1328Ile) single nucleotide variant Uncertain significance rs540427775 GRCh37 Chromosome 2, 29420497: 29420497
42 ALK NM_004304.4(ALK): c.4811A> G (p.Tyr1604Cys) single nucleotide variant Uncertain significance rs372440265 GRCh38 Chromosome 2, 29193276: 29193276
43 ALK NM_004304.4(ALK): c.4836G> A (p.Lys1612=) single nucleotide variant Benign/Likely benign rs78174819 GRCh37 Chromosome 2, 29416117: 29416117
44 ALK NM_004304.4(ALK): c.4836G> A (p.Lys1612=) single nucleotide variant Benign/Likely benign rs78174819 GRCh38 Chromosome 2, 29193251: 29193251
45 ALK NM_004304.4(ALK): c.4785C> T (p.Ala1595=) single nucleotide variant Benign/Likely benign rs76150405 GRCh38 Chromosome 2, 29193302: 29193302
46 ALK NM_004304.4(ALK): c.4785C> T (p.Ala1595=) single nucleotide variant Benign/Likely benign rs76150405 GRCh37 Chromosome 2, 29416168: 29416168
47 ALK NM_004304.4(ALK): c.4625C> T (p.Pro1542Leu) single nucleotide variant Uncertain significance rs878854659 GRCh38 Chromosome 2, 29193462: 29193462
48 ALK NM_004304.4(ALK): c.4625C> T (p.Pro1542Leu) single nucleotide variant Uncertain significance rs878854659 GRCh37 Chromosome 2, 29416328: 29416328
49 ALK NM_004304.4(ALK): c.4608G> A (p.Glu1536=) single nucleotide variant Likely benign rs147241767 GRCh38 Chromosome 2, 29193479: 29193479
50 ALK NM_004304.4(ALK): c.4608G> A (p.Glu1536=) single nucleotide variant Likely benign rs147241767 GRCh37 Chromosome 2, 29416345: 29416345

Expression for Neuroblastoma 3

Search GEO for disease gene expression data for Neuroblastoma 3.

Pathways for Neuroblastoma 3

GO Terms for Neuroblastoma 3

Sources for Neuroblastoma 3

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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