Gene: MBTPS2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		0.330 Biomarker disease GENOMICS_ENGLAND Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. 23316014 2013
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		0.330 Biomarker disease BEFREE Keratosis follicularis spinulosa decalvans (KFSD; OMIM 308800) is an X-linked disorder characterized by widespread hyperkeratotic follicular papules (including keratosis pilaris-like lesions), facial erythema, hypotrichosis and scarring alopecia. 22816986 2012
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		0.330 Biomarker disease BEFREE Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis mainly characterized by follicular hyperkeratosis, progressive cicatricial alopecia and photophobia. 18984066 2009
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		0.330 Biomarker disease BEFREE Keratosis follicularis spinulosa decalvans (KFSD) is a rare condition characterized by diffuse keratosis pilaris with a scarring alopecia of the scalp and associated photophobia, facial erythema, and palmoplantar keratoderma. 18280351 2008