GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Autoimmune Pancreatitis 
An Unknown mode(s) within the Gastrointestinal 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 IL33/90865 interleukin 33 9p24.1 Chr9, NC_000009.12
(6215149..6257983)
42835 nt 11 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 IFNA1/3439 interferon alpha 1 9p21.3 Chr9, NC_000009.12
(21440439..21441316)
878 nt 1 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 ENPP2/5168 ectonucleotide pyrophosphatase/phosphodiesterase 2 8q24.12 Chr8, NC_000008.11
(119557086..119673390, complement)
116305 nt 29 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

4 SPINK1/6690 serine peptidase inhibitor Kazal type 1 5q32 Chr5, NC_000005.10
(147824582..147839196, complement)
14615 nt 6 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

5 CA2/760 carbonic anhydrase 2 8q21.2 Chr8, NC_000008.11
(85464007..85481493)
17487 nt 7 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

6 PRSS1/5644 serine protease 1 7q34 Chr7, NC_000007.14
(142749472..142753072)
3601 nt 5 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

7 CELA1/1990 chymotrypsin like elastase 1 12q13.13 Chr12, NC_000012.12
(51328442..51346679, complement)
18238 nt 8 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

8 CELA3B/23436 chymotrypsin like elastase 3B 1p36.12 Chr1, NC_000001.11
(21977022..21998642)
21621 nt 11 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

9 PRSS58/136541 serine protease 58 7q34 Chr7, NC_000007.14
(142252143..142258058, complement)
5916 nt 6 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:                GTR          MalaCards          NORD     

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