GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Multicentric Osteolysis, Nodulosis, And Arthropathy(Al-Aqeel Sewairi syndrome)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Bone 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 MMP2/4313 matrix metallopeptidase 2 16q12.2 Chr16, NC_000016.10
(55478830..55506691)
27862 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

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

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Clinical Symptoms & Disabilities