GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Diffuse Mesangial Sclerosis(NPHS4)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Nephrological 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 COL4A4/1286 collagen type IV alpha 4 chain 2q36.3 Chr2, NC_000002.12
(226967360..227164488, complement)
197129 nt 57 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information       
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

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Clinical Symptoms & Disabilities