GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Familial Adenomatous Polyposis(MUTYH-related attenuated familial adenomatous polyposis)      Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Cancer 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 APC/324 APC regulator of WNT signaling pathway 5q22.2 Chr5, NC_000005.10
(112707498..112846239)
138742 nt 20 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 MUTYH/4595 mutY DNA glycosylase 1p34.1 Chr1, NC_000001.11
(45329242..45340440, complement)
11199 nt 22 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 MSH3/4437 mutS homolog 3 5q14.1 Chr5, NC_000005.10
(80654652..80876815)
222164 nt 24 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

4 NTHL1/4913 nth like DNA glycosylase 1 16p13.3 Chr16, NC_000016.10
(2039820..2047834, complement)
8015 nt 6 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

5 STK11/6794 serine/threonine kinase 11 19p13.3 Chr19, NC_000019.10
(1205778..1228431)
22654 nt 12 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development