GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Amyloidosis 
An Unknown mode(s) within the Metabolic 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 OSMR/9180 oncostatin M receptor 5p13.1 Chr5, NC_000005.10
(38846012..38945579)
99568 nt 22 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 TTR/7276 transthyretin 18q12.1 Chr18, NC_000018.10
(31591877..31598821)
6945 nt 4 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 APOA1/335 apolipoprotein A1 11q23.3 Chr11, NC_000011.10
(116835751..116837950, complement)
2200 nt 4 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

4 IL31RA/133396 interleukin 31 receptor A 5q11.2 Chr5, NC_000005.10
(55839789..55922850)
83062 nt 20 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

5 GPNMB/10457 glycoprotein nmb 7p15.3 Chr7, NC_000007.14
(23246775..23275108)
28334 nt 11 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:                GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development