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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00740 | Ichthyosis follicularis, alopecia, and photophobia syndrome | ... involved in endoplasmic reticulum stress response. Recently, it has been reported that mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal dominant IFAP ... | Congenital malformation |
(IFAP1) MBTPS2 [HSA:51360] [KO:K07765] (IFAP2) SREBF1 [HSA:6720] [KO:K07197] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |