GenTIGSA Gene Database on Rare Genetic Disorders

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     

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Clinical Symptoms & Disabilities