NBLST1
MCID: NRB010
MIFTS: 59

Neuroblastoma 1 (NBLST1)

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

Aliases & Classifications for Neuroblastoma 1

MalaCards integrated aliases for Neuroblastoma 1:

Name: Neuroblastoma 1 57 73 6
Nblst1 57 73
Neuroblastoma, Susceptibility to, Type 1 39
Neuroblastoma, Susceptibility to, 1 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
incomplete penetrance
genetic heterogeneity
mean age of onset 14-24 months
highly variable clinical phenotype
symptoms vary according to location of tumor
spontaneous tumor regression may occur
usually sporadic, but 1-2% of cases are familial
n-myc oncogene amplification is associated with poor prognosis


HPO:

31
neuroblastoma 1:
Inheritance autosomal dominant inheritance somatic mutation heterogeneous sporadic
Onset and clinical course incomplete penetrance


Classifications:



Summaries for Neuroblastoma 1

OMIM® : 57 Neuroblastoma is the most common childhood cancer diagnosed before the age of 1 year, and accounts for 10 to 15% of all cancer deaths in children. Some patients inherit a genetic predisposition to neuroblastoma due to germline mutations, whereas others develop sporadic disease that may result from either germline or somatic mutations. Neuroblastoma tumors are derived from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system (Roberts et al., 1998; Eng, 2008). Histopathologically, neuroblastoma can range in type from the most aggressive form, neuroblastoma, composed entirely of immature neural precursor cells, to ganglioneuroma, composed entirely of mature neural tissue. The most important prognostic factor for patients with neuroblastoma is the extent of the tumor at the time of diagnosis (Roberts et al., 1998). Neuroblastoma can also be part of cancer-prone syndromes, such as paragangliomas (see, e.g., PGL4; 115310). (256700) (Updated 05-Mar-2021)

MalaCards based summary : Neuroblastoma 1, also known as nblst1, is related to neuroblastoma and pediatric lymphoma. An important gene associated with Neuroblastoma 1 is KIF1B (Kinesin Family Member 1B), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Endometrial cancer. Affiliated tissues include adrenal gland, bone and bone marrow, and related phenotypes are failure to thrive and ataxia

UniProtKB/Swiss-Prot : 73 Neuroblastoma 1: 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.

Related Diseases for Neuroblastoma 1

Diseases in the Neuroblastoma family:

Neuroblastoma 1 Neuroblastoma 2
Neuroblastoma 3 Neuroblastoma 4
Neuroblastoma 5 Neuroblastoma 6
Neuroblastoma 7

Diseases related to Neuroblastoma 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 neuroblastoma 26.7 UBE4B TP53 SMARCA4 PTPN11 PIK3CA NBL1
2 pediatric lymphoma 10.2 MYC ALK
3 autonomic nervous system benign neoplasm 10.2 KIF1B ALK
4 adult lymphoma 10.2 MYC ALK
5 peripheral nervous system benign neoplasm 10.2 KIF1B ALK
6 sarcomatoid transitional cell carcinoma 10.2 TP53 ALK
7 alk-negative anaplastic large cell lymphoma 10.1 MYC ALK
8 adenosquamous lung carcinoma 10.1 PIK3CA ALK
9 large cell medulloblastoma 10.1 MYC ALK
10 anal carcinoma in situ 10.1 TP53 MYC
11 rosette-forming glioneuronal tumor 10.1 PIK3CA FGFR1
12 frontal lobe neoplasm 10.1 TP53 MYC
13 spinal cord oligodendroglioma 10.1 TP53 FGFR1
14 b cell prolymphocytic leukemia 10.1 TP53 MYC
15 breast implant-associated anaplastic large cell lymphoma 10.1 TP53 ALK
16 suppressor of tumorigenicity 3 10.1 TP53 MYC
17 oculoectodermal syndrome 10.1 PIK3CA FGFR1
18 gum cancer 10.1 TP53 MYC
19 hypertelorism, microtia, facial clefting syndrome 10.1 PTPN11 FGFR1
20 penile benign neoplasm 10.0 TP53 PIK3CA
21 nodular ganglioneuroblastoma 10.0 NBL1 MYCNOS ALK
22 ovarian carcinosarcoma 10.0 TP53 PIK3CA
23 hemimegalencephaly 10.0 PIK3CA MYC
24 malignant spiradenoma 10.0 TP53 PIK3CA
25 vulva squamous cell carcinoma 10.0 TP53 PIK3CA
26 large intestine adenocarcinoma 10.0 TP53 PIK3CA
27 acanthoma 10.0 TP53 PIK3CA
28 prostate squamous cell carcinoma 10.0 TP53 PIK3CA
29 vulvar disease 10.0 TP53 PIK3CA
30 mature t-cell and nk-cell lymphoma 9.9 TP53 MYC ALK
31 skeletal muscle cancer 9.9 TP53 MYC ALK
32 muscle cancer 9.9 TP53 MYC ALK
33 megaesophagus 9.9 TP53 MYC FGFR1
34 anal squamous cell carcinoma 9.9 TP53 PIK3CA
35 inflammatory myofibroblastic tumor 9.9 TP53 MYC ALK
36 gliofibroma 9.9 TP53 PTPN11
37 lymphoblastic lymphoma 9.9 TP53 MYC FGFR1
38 cystic lymphangioma 9.9 PTPN11 PIK3CA
39 sezary's disease 9.9 TP53 MYC ALK
40 retinitis pigmentosa 11 9.9 TP53 MYC ALK
41 parameningeal embryonal rhabdomyosarcoma 9.9 TP53 PIK3CA ALK
42 clear cell adenofibroma 9.9 SMARCA4 PIK3CA
43 lung oat cell carcinoma 9.9 TP53 PIK3CA ALK
44 autonomic nervous system neoplasm 9.9 TP53 MYC ALK
45 peripheral nervous system neoplasm 9.9 TP53 MYC ALK
46 endometrial serous adenocarcinoma 9.9 TP53 PIK3CA
47 brain stem glioma 9.9 TP53 PIK3CA FGFR1
48 small-cell carcinoma of the ovary of hypercalcemic type 9.9 TP53 SMARCA4
49 small cell cancer of the lung 9.9 TP53 PIK3CA ALK
50 hypertrophy of breast 9.9 TP53 PIK3CA

Graphical network of the top 20 diseases related to Neuroblastoma 1:



Diseases related to Neuroblastoma 1

Symptoms & Phenotypes for Neuroblastoma 1

Human phenotypes related to Neuroblastoma 1:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 ataxia 31 HP:0001251
3 hypertension 31 HP:0000822
4 fever 31 HP:0001945
5 anemia 31 HP:0001903
6 myoclonus 31 HP:0001336
7 abdominal pain 31 HP:0002027
8 weight loss 31 HP:0001824
9 neuroblastoma 31 HP:0003006
10 bone pain 31 HP:0002653
11 diarrhea 31 HP:0002014
12 horner syndrome 31 HP:0002277
13 skin nodule 31 HP:0200036
14 ganglioneuroma 31 HP:0003005
15 ganglioneuroblastoma 31 HP:0006747
16 opsoclonus 31 HP:0010543
17 spinal cord compression 31 HP:0002176
18 elevated urinary dopamine 31 HP:0011979
19 abdominal mass 31 HP:0031500
20 elevated urinary vanillylmandelic acid 31 HP:0011978
21 abnormal thorax morphology 31 HP:0000765
22 elevated urinary homovanillic acid 31 HP:0011977

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Metabolic Features:
fever

Neoplasia:
ganglioneuroma
ganglioneuroblastoma
neuroblastoma, arises anywhere along the sympathetic chain (including intracranially)
adrenal glands are most common site

Head And Neck Eyes:
horner's syndrome
periorbital ecchymoses (soft tissue involvement)

Chest:
mediastinal mass with calcifications on radiology

Skeletal:
bone pain (with metastatic disease)

Hematology:
anemia (with bone marrow involvement)

Neurologic Central Nervous System:
ataxia
myoclonus
opsoclonus
spinal cord compression
paraneoplastic syndromes

Abdomen:
abdominal pain
palpable abdominal mass
abdominal mass with calcifications on radiology

Growth Weight:
weight loss (with disseminated disease)

Cardiovascular Vascular:
hypertension (compression of renal arteries)

Abdomen Gastrointestinal:
diarrhea (due to vasoactive intestinal peptide)

Skin Nails Hair Skin:
bluish skin nodules

Laboratory Abnormalities:
increased urinary catecholamines
increased urinary homovanillic acid (hva)
increased urinary vanillylmandelic acid (vma)
increased urinary dopamine
tumor may secrete vasoactive intestinal peptide (vip)

Clinical features from OMIM®:

256700 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Neuroblastoma 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.86 PIK3CA
2 Decreased viability GR00055-A-2 9.86 PIK3CA
3 Decreased viability GR00221-A-1 9.86 ALK FGFR1 MYC PIK3CA
4 Decreased viability GR00221-A-2 9.86 FGFR1 PIK3CA
5 Decreased viability GR00221-A-3 9.86 MYC
6 Decreased viability GR00221-A-4 9.86 ALK PIK3CA
7 Decreased viability GR00249-S 9.86 ALK MYC
8 Decreased viability GR00386-A-1 9.86 FGFR1
9 Decreased viability GR00402-S-2 9.86 MYC PIK3CA
10 Increased cell death in HCT116 cells GR00103-A-0 8.32 PIK3CA

MGI Mouse Phenotypes related to Neuroblastoma 1:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 ALK FGFR1 KIF1B MYC NAV2 NBL1
2 homeostasis/metabolism MP:0005376 10.18 ALK FGFR1 KIF1B MYC NAV2 PIK3CA
3 integument MP:0010771 10.16 ALK FGFR1 KIF1B MYC NAV2 NBL1
4 embryo MP:0005380 10.04 FGFR1 KIF1B MYC PIK3CA PTPN11 SMARCA4
5 nervous system MP:0003631 10.02 ALK FGFR1 KIF1B MYC NAV2 PIK3CA
6 muscle MP:0005369 10.01 FGFR1 KIF1B MYC PIK3CA PTPN11 SMARCA4
7 craniofacial MP:0005382 9.99 FGFR1 KIF1B MYC PTPN11 SMARCA4 TP53
8 limbs/digits/tail MP:0005371 9.91 FGFR1 KIF1B MYC PTPN11 SMARCA4 TP53
9 neoplasm MP:0002006 9.85 ALK MYC PIK3CA PTPN11 SMARCA4 TP53
10 normal MP:0002873 9.8 ALK FGFR1 MYC NBL1 PTPN11 SMARCA4
11 skeleton MP:0005390 9.65 ALK FGFR1 KIF1B MYC NAV2 NBL1
12 pigmentation MP:0001186 9.55 ALK MYC PTPN11 SMARCA4 TP53
13 vision/eye MP:0005391 9.17 ALK FGFR1 NAV2 PIK3CA PTPN11 SMARCA4

Drugs & Therapeutics for Neuroblastoma 1

Search Clinical Trials , NIH Clinical Center for Neuroblastoma 1

Genetic Tests for Neuroblastoma 1

Anatomical Context for Neuroblastoma 1

MalaCards organs/tissues related to Neuroblastoma 1:

40
Adrenal Gland, Bone, Bone Marrow, Spinal Cord, Testis, Brain, Heart

Publications for Neuroblastoma 1

Articles related to Neuroblastoma 1:

(show top 50) (show all 156)
# Title Authors PMID Year
1
The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. 6 57
18334619 2008
2
A mechanistic classification of clinical phenotypes in neuroblastoma. 57
30523111 2018
3
Multiple mechanisms disrupt the let-7 microRNA family in neuroblastoma. 57
27383785 2016
4
Telomerase activation by genomic rearrangements in high-risk neuroblastoma. 57
26466568 2015
5
The genetic landscape of high-risk neuroblastoma. 57
23334666 2013
6
Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. 57
23202128 2013
7
Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. 57
22367537 2012
8
miR-380-5p represses p53 to control cellular survival and is associated with poor outcome in MYCN-amplified neuroblastoma. 57
20871609 2010
9
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. 57
20503330 2010
10
Cancer: A ringleader identified. 57
18923503 2008
11
A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. 6
18726616 2008
12
Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. 57
18463370 2008
13
Potentiation of neuroblastoma metastasis by loss of caspase-8. 57
16397500 2006
14
Chromosome 1p and 11q deletions and outcome in neuroblastoma. 57
16306521 2005
15
A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. 57
16079250 2005
16
Homozygous inactivation of NF1 gene in a patient with familial NF1 and disseminated neuroblastoma. 57
12687660 2003
17
Screening of infants and mortality due to neuroblastoma. 57
11932470 2002
18
Neuroblastoma screening at one year of age. 57
11932471 2002
19
Neuroblastoma within a congenital orbital teratoma. 57
11831928 2002
20
Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours. 57
11870543 2002
21
Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development. 57
10087945 1999
22
NB4S, a member of the TBC1 domain family of genes, is truncated as a result of a constitutional t(1;10)(p22;q21) chromosome translocation in a patient with stage 4S neuroblastoma. 57
9618176 1998
23
Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma. 57
9169039 1997
24
Anticipation in pediatric malignancies. 57
9150177 1997
25
Familial predisposition to neuroblastoma does not map to chromosome band 1p36. 57
8758905 1996
26
Molecular characterization of a (1;10)(p22;q21) constitutional translocation from a patient with neuroblastoma. 57
7621412 1995
27
A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3. 57
7777541 1995
28
Evidence for two tumour suppressor loci on chromosomal bands 1p35-36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification. 57
7633401 1995
29
Recurrent 1;17 translocations in human neuroblastoma reveal nonhomologous mitotic recombination during the S/G2 phase as a novel mechanism for loss of heterozygosity. 57
8037211 1994
30
Nm23-H1 mutation in neuroblastoma. 57
8047138 1994
31
Allelic loss of chromosome 1p36 in neuroblastoma is of preferential maternal origin and correlates with N-myc amplification. 57
8102298 1993
32
Preferential amplification of the paternal allele of the N-myc gene in human neuroblastomas. 57
8102299 1993
33
Constitutional 1p36 deletion in a child with neuroblastoma. 57
8434586 1993
34
Neurofibromatosis type 1 gene mutations in neuroblastoma. 57
8490657 1993
35
Deletion mapping of chromosomes 14q and 1p in human neuroblastoma. 57
1594247 1992
36
Dissociation of suppression of tumorigenicity and differentiation in vitro effected by transfer of single human chromosomes into human neuroblastoma cells. 57
1679663 1991
37
Molecular evaluation of abnormalities of the short arm of chromosome 1 in neuroblastoma. 57
1980608 1990
38
Neuroblastoma consensus deletion maps to 1p36.1-2. 57
2487156 1989
39
Chromosome 1 deletions in human neuroblastomas: generation and fine mapping of microclones from the distal 1p region. 57
2535035 1989
40
Loss of heterozygosity for the short arm of chromosome 1 in human neuroblastomas: correlation with N-myc amplification. 57
2566996 1989
41
Frequent loss of heterozygosity on chromosome 14q in neuroblastoma. 57
2563671 1989
42
Molecular analysis of chromosome 1 abnormalities in neuroblastoma. 57
2776489 1989
43
Chromosome localization in normal human cells and neuroblastomas of a gene related to c-myc. 57
6700732 1984
44
Specific DNA sequence amplification in human neuroblastoma cells. 57
6577451 1983
45
Amplified DNA with limited homology to myc cellular oncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour. 57
6888561 1983
46
Chromosomal assignment of a family of human oncogenes. 57
6576347 1983
47
Chromosome analysis of human neuroblastoma cell line TR14 showing double minutes and an aberration involving chromosome 1. 57
6861117 1983
48
Three human transforming genes are related to the viral ras oncogenes. 57
6572964 1983
49
Isolation and preliminary characterization of the transforming gene of a human neuroblastoma cell line. 57
6300838 1983
50
Genetics of familial neuroblastoma: long-range studies. 57
7151041 1982

Variations for Neuroblastoma 1

ClinVar genetic disease variations for Neuroblastoma 1:

6 (show top 50) (show all 300)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RBM15 NM_022768.4(RBM15):c.1912C>A (p.Gln638Lys) SNV other 438785 rs1553224979 1:110883939-110883939 1:110341317-110341317
2 NTRK2 NM_006180.4(NTRK2):c.970T>A (p.Leu324Met) SNV other 438780 rs201362502 9:87342685-87342685 9:84727770-84727770
3 MAP2K7 NM_145185.4(MAP2K7):c.752T>C (p.Leu251Pro) SNV other 438771 rs1555701191 19:7975941-7975941 19:7911056-7911056
4 MET NM_000245.4(MET):c.985C>A (p.Leu329Ile) SNV other 438775 rs1554378983 7:116340123-116340123 7:116700069-116700069
5 PHF6 NM_001015877.2(PHF6):c.119C>A (p.Ala40Glu) SNV other 438782 rs1556013242 X:133511766-133511766 X:134377736-134377736
6 MAP2K4 NM_003010.4(MAP2K4):c.538C>G (p.Leu180Val) SNV other 438770 rs1555550018 17:12011131-12011131 17:12107814-12107814
7 TSC2 NM_000548.5(TSC2):c.3284+1G>T SNV other 438793 rs45517289 16:2129430-2129430 16:2079429-2079429
8 FGFR3 NM_000142.5(FGFR3):c.991T>C (p.Phe331Leu) SNV other 438762 rs1246952737 4:1805479-1805479 4:1803752-1803752
9 BRCA2 NM_000059.3(BRCA2):c.1075G>A (p.Glu359Lys) SNV other 438754 rs1555281730 13:32906690-32906690 13:32332553-32332553
10 ALK NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) SNV Pathogenic 18083 rs113994087 2:29432664-29432664 2:29209798-29209798
11 ALK NM_004304.5(ALK):c.3512T>C (p.Ile1171Thr) SNV Pathogenic 545115 rs1057519698 2:29445213-29445213 2:29222347-29222347
12 ALK NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys) SNV Pathogenic 217856 rs863225283 2:29436859-29436859 2:29213993-29213993
13 ALK NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu) SNV Pathogenic 217851 rs863225281 2:29443695-29443695 2:29220829-29220829
14 ALK NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile) SNV Pathogenic 217850 rs281864719 2:29443697-29443697 2:29220831-29220831
15 ALK NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn) SNV Pathogenic 218628 rs864309584 2:29446296-29446296 2:29223430-29223430
16 ALK NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser) SNV Pathogenic 217858 rs863225285 2:29432655-29432655 2:29209789-29209789
17 ALK NM_004304.5(ALK):c.3521T>G (p.Phe1174Cys) SNV Pathogenic 375887 rs1057519697 2:29443696-29443696 2:29220830-29220830
18 ALK NM_004304.5(ALK):c.3512T>A (p.Ile1171Asn) SNV Pathogenic 375888 rs1057519698 2:29445213-29445213 2:29222347-29222347
19 ALK NM_004304.5(ALK):c.3733T>G (p.Phe1245Val) SNV Pathogenic 65671 rs281864720 2:29436860-29436860 2:29213994-29213994
20 ALK NM_004304.5(ALK):c.3735C>G (p.Phe1245Leu) SNV Pathogenic 375885 rs863225284 2:29436858-29436858 2:29213992-29213992
21 ALK NM_004304.5(ALK):c.3520T>G (p.Phe1174Val) SNV Pathogenic 65670 rs281864719 2:29443697-29443697 2:29220831-29220831
22 ALK NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) SNV Pathogenic 18086 rs113994091 2:29445273-29445273 2:29222407-29222407
23 ALK NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile) SNV Likely pathogenic 217855 rs281864720 2:29436860-29436860 2:29213994-29213994
24 PTPN11 NM_002834.4(PTPN11):c.215C>A (p.Ala72Asp) SNV Likely pathogenic 376511 rs121918454 12:112888199-112888199 12:112450395-112450395
25 MYC NM_002467.6(MYC):c.218C>T (p.Thr73Ile) SNV Likely pathogenic 376300 rs756091827 8:128750681-128750681 8:127738435-127738435
26 TP53 NM_000546.5(TP53):c.842A>T (p.Asp281Val) SNV Likely pathogenic 182968 rs587781525 17:7577096-7577096 17:7673778-7673778
27 TP53 NM_000546.5(TP53):c.841G>T (p.Asp281Tyr) SNV Likely pathogenic 376585 rs764146326 17:7577097-7577097 17:7673779-7673779
28 MYC NM_002467.6(MYC):c.173C>T (p.Pro58Leu) SNV Likely pathogenic 376459 rs1057519918 8:128750636-128750636 8:127738390-127738390
29 FGFR1 NM_015850.4(FGFR1):c.1537A>G (p.Met513Val) SNV Likely pathogenic 376430 rs1057519899 8:38275397-38275397 8:38417879-38417879
30 ALK NM_004304.5(ALK):c.3824G>T (p.Arg1275Leu) SNV Likely pathogenic 376365 rs113994087 2:29432664-29432664 2:29209798-29209798
31 PTPN11 NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) SNV Likely pathogenic 13338 rs121918465 12:112888211-112888211 12:112450407-112450407
32 ALK NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) SNV Likely pathogenic 18084 rs113994088 2:29445450-29445450 2:29222584-29222584
33 MYCNOS NM_005378.6(MYCN):c.131C>T (p.Pro44Leu) SNV Likely pathogenic 376460 rs1057519919 2:16082317-16082317 2:15942195-15942195
34 ALK NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu) SNV Likely pathogenic 217852 rs863225281 2:29443695-29443695 2:29220829-29220829
35 ALK NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) SNV Likely pathogenic 18085 rs113994089 2:29443642-29443642 2:29220776-29220776
36 FGFR1 NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) SNV Likely pathogenic 224896 rs779707422 8:38274849-38274849 8:38417331-38417331
37 TP53 NM_000546.5(TP53):c.843C>G (p.Asp281Glu) SNV Likely pathogenic 376587 rs1057519984 17:7577095-7577095 17:7673777-7673777
38 ALK NM_004304.5(ALK):c.3733T>C (p.Phe1245Leu) SNV Likely pathogenic 376712 rs281864720 2:29436860-29436860 2:29213994-29213994
39 TP53 NM_000546.5(TP53):c.842A>C (p.Asp281Ala) SNV Likely pathogenic 376589 rs587781525 17:7577096-7577096 17:7673778-7673778
40 TP53 NM_000546.5(TP53):c.842A>G (p.Asp281Gly) SNV Likely pathogenic 141141 rs587781525 17:7577096-7577096 17:7673778-7673778
41 PTPN11 NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) SNV Likely pathogenic 13339 rs121918465 12:112888211-112888211 12:112450407-112450407
42 FGFR1 NM_015850.4(FGFR1):c.1630A>G (p.Asn544Asp) SNV Likely pathogenic 376429 rs1057519898 8:38274851-38274851 8:38417333-38417333
43 ALK NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu) SNV Likely pathogenic 217849 rs281864719 2:29443697-29443697 2:29220831-29220831
44 TP53 NM_000546.5(TP53):c.841G>A (p.Asp281Asn) SNV Likely pathogenic 376586 rs764146326 17:7577097-7577097 17:7673779-7673779
45 PTPN11 NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) SNV Likely pathogenic 13336 rs121918464 12:112888210-112888210 12:112450406-112450406
46 ALK NM_004304.5(ALK):c.3497T>G (p.Met1166Arg) SNV Likely pathogenic 376713 rs1057520019 2:29445228-29445228 2:29222362-29222362
47 TP53 NM_000546.5(TP53):c.841G>C (p.Asp281His) SNV Likely pathogenic 376588 rs764146326 17:7577097-7577097 17:7673779-7673779
48 PTPN11 NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) SNV Likely pathogenic 177754 rs121918453 12:112888198-112888198 12:112450394-112450394
49 MYC NM_002467.6(MYC):c.217A>C (p.Thr73Pro) SNV Likely pathogenic 376458 rs750664148 8:128750680-128750680 8:127738434-127738434
50 KIF1B NM_015074.3(KIF1B):c.1937A>T (p.Glu646Val) SNV risk factor 4659 rs121908161 1:10357264-10357264 1:10297206-10297206

Expression for Neuroblastoma 1

LifeMap Discovery
Genes differentially expressed in tissues of Neuroblastoma 1 patients vs. healthy controls: 35 (show top 50) (show all 640)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 STAR steroidogenic acute regulatory protein Adrenal Gland - 9.57 0.000
2 CYP11A1 cytochrome P450 family 11 subfamily A member 1 Adrenal Gland - 9.02 0.000
3 CYP11B1 cytochrome P450 family 11 subfamily B member 1 Adrenal Gland - 8.90 0.000
4 CYP17A1 cytochrome P450 family 17 subfamily A member 1 Adrenal Gland - 8.90 0.000
5 ELAVL4 ELAV like RNA binding protein 4 Adrenal Gland + 8.22 0.000
6 SULT2A1 sulfotransferase family 2A member 1 Adrenal Gland - 8.16 0.000
7 HAND2 heart and neural crest derivatives expressed 2 Adrenal Gland + 8.05 0.000
8 STMN2 stathmin 2 Adrenal Gland + 7.76 0.000
9 PHOX2B paired like homeobox 2B Adrenal Gland + 7.74 0.000
10 ISL1 ISL LIM homeobox 1 Adrenal Gland + 7.46 0.000
11 CYP21A2 cytochrome P450 family 21 subfamily A member 2 Adrenal Gland - 7.45 0.000
12 MGST1 microsomal glutathione S-transferase 1 Adrenal Gland - 7.39 0.000
13 TUBB2B tubulin beta 2B class IIb Adrenal Gland + 7.37 0.000
14 NPY neuropeptide Y Adrenal Gland + 7.34 0.000
15 GSTA1 glutathione S-transferase alpha 1 Adrenal Gland - 7.21 0.000
16 RTN1 reticulon 1 Adrenal Gland + 7.18 0.000
17 ADGRV1 adhesion G protein-coupled receptor V1 Adrenal Gland - 7.16 0.000
18 SCG2 secretogranin II Adrenal Gland + 7.15 0.000
19 DCX doublecortin Adrenal Gland + 7.06 0.000
20 NRK Nik related kinase Adrenal Gland - 7.01 0.000
21 MAB21L1 mab-21 like 1 Adrenal Gland + 7.01 0.000
22 MRAP melanocortin 2 receptor accessory protein Adrenal Gland - 7.01 0.000
23 MGARP mitochondria localized glutamic acid rich protein Adrenal Gland - 6.97 0.000
24 SLC38A1 solute carrier family 38 member 1 Adrenal Gland + 6.95 0.000
25 RIMBP2 RIMS binding protein 2 Adrenal Gland + 6.84 0.000
26 CD24 CD24 molecule Adrenal Gland + 6.82 0.000
27 GNRHR gonadotropin releasing hormone receptor Adrenal Gland - 6.80 0.000
28 LDLR low density lipoprotein receptor Adrenal Gland - 6.79 0.000
29 FDX1 ferredoxin 1 Adrenal Gland - 6.79 0.000
30 NSG2 neuronal vesicle trafficking associated 2 Adrenal Gland + 6.78 0.000
31 CPB1 carboxypeptidase B1 Adrenal Gland - 6.76 0.000
32 CRMP1 collapsin response mediator protein 1 Adrenal Gland + 6.70 0.000
33 SOX11 SRY-box transcription factor 11 Adrenal Gland + 6.65 0.000
34 SYT1 synaptotagmin 1 Adrenal Gland + 6.61 0.000
35 GAP43 growth associated protein 43 Adrenal Gland + 6.61 0.000
36 TFAP2B transcription factor AP-2 beta Adrenal Gland + 6.59 0.000
37 SCN3A sodium voltage-gated channel alpha subunit 3 Adrenal Gland + 6.57 0.000
38 KRT1 keratin 1 Blood - 6.56 0.000
39 CELF4 CUGBP Elav-like family member 4 Adrenal Gland + 6.53 0.000
40 CHGA chromogranin A Adrenal Gland + 6.45 0.000
41 ELAVL2 ELAV like RNA binding protein 2 Adrenal Gland + 6.41 0.000
42 SCARB1 scavenger receptor class B member 1 Adrenal Gland - 6.33 0.000
43 IGFBPL1 insulin like growth factor binding protein like 1 Adrenal Gland + 6.17 0.000
44 INA internexin neuronal intermediate filament protein alpha Adrenal Gland + 6.16 0.000
45 SNAP91 synaptosome associated protein 91 Adrenal Gland + 6.16 0.000
46 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit Adrenal Gland + 6.16 0.000
47 PAK3 p21 (RAC1) activated kinase 3 Adrenal Gland + 6.15 0.000
48 STMN4 stathmin 4 Adrenal Gland + 6.11 0.000
49 SIGLEC11 sialic acid binding Ig like lectin 11 Adrenal Gland - 6.05 0.000
50 PDZK1IP1 PDZK1 interacting protein 1 Blood - 6.03 0.000
Search GEO for disease gene expression data for Neuroblastoma 1.

Pathways for Neuroblastoma 1

Pathways related to Neuroblastoma 1 according to GeneCards Suite gene sharing:

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.17 TP53 SMARCA4 PTPN11 PIK3CA MYC FGFR1
2
Show member pathways
12.64 TP53 PTPN11 PIK3CA MYC FGFR1
3
Show member pathways
12.58 TP53 PTPN11 PIK3CA FGFR1
4 12.56 TP53 PIK3CA MYC FGFR1 ALK
5
Show member pathways
12.53 TP53 PIK3CA FGFR1 ALK
6
Show member pathways
12.46 TP53 PTPN11 PIK3CA MYC
7
Show member pathways
12.43 TP53 PTPN11 PIK3CA MYC
8
Show member pathways
12.39 TP53 SMARCA4 PIK3CA MYC FGFR1
9
Show member pathways
12.32 TP53 PIK3CA MYC FGFR1
10
Show member pathways
12.2 TP53 PTPN11 PIK3CA MYC
11
Show member pathways
12.12 TP53 PTPN11 PIK3CA FGFR1
12
Show member pathways
12.11 TP53 PTPN11 MYC FGFR1
13
Show member pathways
12.06 TP53 PIK3CA MYC FGFR1
14 12.03 TP53 PIK3CA MYC
15 12.02 TP53 SMARCA4 MYC
16
Show member pathways
12 PTPN11 PIK3CA MYC
17 11.96 PIK3CA MYC FGFR1
18
Show member pathways
11.93 PTPN11 PIK3CA MYC
19 11.88 TP53 PIK3CA MYC
20 11.85 TP53 PIK3CA MYC
21 11.71 TP53 PIK3CA MYC
22
Show member pathways
11.65 PTPN11 PIK3CA MYC
23
Show member pathways
11.48 PTPN11 PIK3CA MYC
24 11.45 TP53 PIK3CA MYC
25 11.33 TP53 PTPN11 PIK3CA MYC FGFR1
26 11.31 PTPN11 PIK3CA MYC
27 11.25 TP53 PTPN11 MYC
28 11.1 PTPN11 PIK3CA MYC
29 11.1 TP53 PIK3CA MYC FGFR1
30 11.06 PTPN11 PIK3CA
31
Show member pathways
11.05 PTPN11 PIK3CA MYC
32 11 PTPN11 PIK3CA FGFR1
33
Show member pathways
10.99 TP53 MYC
34 10.99 TP53 MYC

GO Terms for Neuroblastoma 1

Cellular components related to Neuroblastoma 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.02 TP53 SMARCA4 PTPN11 MYC ALK

Biological processes related to Neuroblastoma 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 8.92 TP53 PTPN11 PIK3CA MYC

Molecular functions related to Neuroblastoma 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.17 TP53 SMARCA4 PIK3CA NAV2 KIF1B FGFR1
2 core promoter sequence-specific DNA binding GO:0001046 9.16 TP53 MYC
3 insulin receptor substrate binding GO:0043560 8.96 PTPN11 PIK3CA

Sources for Neuroblastoma 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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