GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Zellweger Spectrum Disorders(Congenital iron overload)      Explore Disorder's Alias
An Unknown mode(s) within the Multisystemic 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 PEX1/5189 peroxisomal biogenesis factor 1 7q21.2 Chr7, NC_000007.14
(92487025..92528520, complement)
41496 nt 24 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 PEX6/5190 peroxisomal biogenesis factor 6 6p21.1 Chr6, NC_000006.12
(42963865..42979181, complement)
15317 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 PEX19/5824 peroxisomal biogenesis factor 19 1q23.2 Chr1, NC_000001.11
(160276807..160285151, complement)
8345 nt 8 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

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

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