Keratosis Follicularis(Darier disease) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Skin disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | ATP2A2/488 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | 12q24.11 | Chr12, NC_000012.12 (110280616..110351093) |
70478 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | MBTPS2/51360 | membrane bound transcription factor peptidase, site 2 | Xp22.12 | ChrX, NC_000023.11 (21839617..21885423) |
45807 nt | 11 | 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 |