Source: CURATED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C1839988
Disease: Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis follicularis atrichia photophobia syndrome 		disease 0.740 None 1.000 5 6 1997 2015
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C3887525
Disease: Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratosis Follicularis Spinulosa Decalvans, X-Linked 		disease 0.740 strong 1.000 2 1 2010 2016
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C3806745
Disease: PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED 		disease 0.700 limited 1.000 2 1 2013 2014
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C4746956
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIX
OSTEOGENESIS IMPERFECTA, TYPE XIX 		disease 0.400 None 1.000 1 2 2016 2016
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C0343057
Disease: Keratosis pilaris decalvans
Keratosis pilaris decalvans 		disease 0.340 None 1.000 1 0 2010 2016
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C2609071
Disease: Olmsted syndrome
Olmsted syndrome 		disease 0.340 None 1.000 1 0 2013 2017
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C2936846
Disease: Scarring alopecia
Scarring alopecia 		disease 0.330 strong 1.000 1 0 2008 2013
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C0086873
Disease: Pseudopelade
Pseudopelade 		disease 0.330 strong 1.000 1 0 2008 2013
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C3502469
Disease: Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia 		disease 0.320 None 1.000 1 0 2012 2013
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.300 limited 1.000 1 0 1997 1997
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C4016470
Disease: IFAP SYNDROME
IFAP SYNDROME 		phenotype 0.300 strong 0 0