Neuroblastoma 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: NRB014 MIFTS: 18	Neuroblastoma 3 Categories: Genetic diseases, Neuronal diseases, Rare diseases, Cancer diseases
Genes Variations Tissues Related diseases Publications Download Expand all tables

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613014

MedGen ⁴² C2751681

MeSH ⁴⁴ D009447

Sources

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

Sources

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

Sources

Symptoms & Phenotypes for Neuroblastoma 3

Clinical features from OMIM:

613014

Sources

Drugs & Therapeutics for Neuroblastoma 3

Search Clinical Trials , NIH Clinical Center for Neuroblastoma 3

Sources

Genetic Tests for Neuroblastoma 3

Genetic tests related to Neuroblastoma 3:

#	Genetic test	Affiliating Genes
1	Neuroblastoma 3 ²⁹	ALK

Sources

Anatomical Context for Neuroblastoma 3

MalaCards organs/tissues related to Neuroblastoma 3:

⁴¹

Bone, Bone Marrow

Sources

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 )	MAches G....Ambros P.F.	2003

Sources

Genes for Neuroblastoma 3

Genes related to Neuroblastoma 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ALK	ALK Receptor Tyrosine Kinase	Protein Coding	1405.52	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	20301782 18923523 18923525 (more) 18923524 18724359 22071890
2	LOC101929386	Uncharacterized LOC101929386	RNA Gene	8.67	GeneCards inferred via : Variants (show sections)

Sources

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

Sources

Expression for Neuroblastoma 3

Search GEO for disease gene expression data for Neuroblastoma 3.

Sources

Pathways for Neuroblastoma 3

Sources

GO Terms for Neuroblastoma 3

Sources

Sources for Neuroblastoma 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia