Source: ORPHANET

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: 3848
Gene Symbol: KRT1
KRT1 		keratin 1 0.575 0.654 0.74
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		disease 1.000 None 0.951 2 0 1992 2019
Entrez Id: 3848
Gene Symbol: KRT1
KRT1 		keratin 1 0.575 0.654 0.74
CUI: C1833030
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC 		disease 0.720 strong 1.000 1 0 1994 2018
Entrez Id: 3848
Gene Symbol: KRT1
KRT1 		keratin 1 0.575 0.654 0.74
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		disease 0.710 strong 1.000 1 0 1994 2018
Entrez Id: 3848
Gene Symbol: KRT1
KRT1 		keratin 1 0.575 0.654 0.74
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		disease 0.670 None 1.000 1 0 2001 2018
Entrez Id: 3848
Gene Symbol: KRT1
KRT1 		keratin 1 0.575 0.654 0.74
CUI: C1840296
Disease: Ichthyosis hystrix, Curth Macklin type
Ichthyosis hystrix, Curth Macklin type 		disease 0.610 strong 1.000 0 0 1994 2006
Entrez Id: 3848
Gene Symbol: KRT1
KRT1 		keratin 1 0.575 0.654 0.74
CUI: C2931735
Disease: Epidermolytic palmoplantar keratoderma Vorner type
Epidermolytic palmoplantar keratoderma Vorner type 		disease 0.500 None 1.000 1 0 2006 2006
Entrez Id: 3848
Gene Symbol: KRT1
KRT1 		keratin 1 0.575 0.654 0.74
CUI: C3665704
Disease: Congenital reticular ichthyosiform erythroderma
Congenital reticular ichthyosiform erythroderma 		disease 0.440 None 1.000 1 0 2015 2019
Entrez Id: 3848
Gene Symbol: KRT1
KRT1 		keratin 1 0.575 0.654 0.74
CUI: C4707237
Disease: Striate palmoplantar keratoderma
Striate palmoplantar keratoderma 		disease 0.320 None 1.000 1 0 2002 2009
Entrez Id: 3848
Gene Symbol: KRT1
KRT1 		keratin 1 0.575 0.654 0.74
CUI: C0432307
Disease: Ichthyosis hystrix of Curth-Macklin
Ichthyosis hystrix of Curth-Macklin 		disease 0.310 None 1.000 0 0 2018 2018
Entrez Id: 3848
Gene Symbol: KRT1
KRT1 		keratin 1 0.575 0.654 0.74
CUI: C1835671
Disease: Keratoderma palmoplantar spastic paralysis
Keratoderma palmoplantar spastic paralysis 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 3848
Gene Symbol: KRT1
KRT1 		keratin 1 0.575 0.654 0.74
CUI: C0343110
Disease: Epidermolytic palmoplantar keratoderma of Vorner
Epidermolytic palmoplantar keratoderma of Vorner 		disease 0.300 None 1.000 1 0 2006 2006
Entrez Id: 3848
Gene Symbol: KRT1
KRT1 		keratin 1 0.575 0.654 0.74
CUI: C1836681
Disease: Erythrokeratoderma, Reticular
Erythrokeratoderma, Reticular 		disease 0.300 None 1.000 1 0 2015 2015