GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Benign Recurrent Intrahepatic Cholestasis Type 2(BRIC type 2)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Liver 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 ABCB11/8647 ATP binding cassette subfamily B member 11 2q31.1 Chr2, NC_000002.12
(168915390..169031324, complement)
115935 nt 30 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information             Highlighted rows indicate variants are reported from India
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

Patient care services
Clinical Symptoms & Disabilities