GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Neuroblastoma(ALK-Related Neuroblastic Tumor Susceptibility)      Explore Disorder's Alias
An Unknown mode(s) within the Cancer disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 KIF1B/23095 kinesin family member 1B 1p36.22 Chr1, NC_000001.11
(10210570..10381603)
171034 nt 52 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 PHOX2B/8929 paired like homeobox 2B 4p13 Chr4, NC_000004.12
(41744082..41748725, complement)
4644 nt 3 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 ALK/238 ALK receptor tyrosine kinase 2p23.2 Chr2, NC_000002.12
(29192774..29921586, complement)
728813 nt 29 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

4 FGFR1/2260 fibroblast growth factor receptor 1 8p11.23 Chr8, NC_000008.11
(38411143..38468635, complement)
57493 nt 24 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

5 MYC/4609 MYC proto-oncogene, bHLH transcription factor 8q24.21 Chr8, NC_000008.11
(127735434..127742951)
7518 nt 3 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

6 BRCA2/675 BRCA2 DNA repair associated 13q13.1 Chr13, NC_000013.11
(32315508..32400268)
84761 nt 28 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

7 SMARCA4/6597 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 19p13.2 Chr19, NC_000019.10
(10961030..11062273)
101244 nt 40 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

8 PTCH1/5727 patched 1 9q22.32 Chr9, NC_000009.12
(95442980..95516971, complement)
73992 nt 28 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      Orphanet          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          Human Phenotype Ontology          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development