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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]
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