GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Zimmermann-Laband Syndrome(Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome)      Explore Disorder's Alias
An Autosomal dominant mode(s) within the Multisystemic 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 KCNH1/3756 potassium voltage-gated channel subfamily H member 1 1q32.2 Chr1, NC_000001.11
(210678314..211134148, complement)
455835 nt 13 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 ATP6V1B2/526 ATPase H+ transporting V1 subunit B2 8p21.3 Chr8, NC_000008.11
(20197381..20221696)
24316 nt 14 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 KCNN3/3782 potassium calcium-activated channel subfamily N member 3 1q21.3 Chr1, NC_000001.11
(154697455..154870281, complement)
172827 nt 11 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities