GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Adams-Oliver Syndrome 1(Congenital scalp defects with distal limb reduction anomalies)      Explore Disorder's Alias
An Autosomal dominant 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 ARHGAP31/57514 Rho GTPase activating protein 31 3q13.33 Chr3, NC_000003.12
(119294383..119420714)
126332 nt 12 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

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

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development