Source: HPO

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: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease 1.000 limited 1.000 0 0 1994 2019
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		disease 0.200 None 1.000 0 0 1997 2019
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease 0.200 None 0.929 0 0 1996 2020
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0013592
Disease: Ectropion
Ectropion 		disease 0.120 None 1.000 0 0 2009 2016
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease 0.110 None 1.000 0 0 1993 1993
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype 0.110 None 1.000 0 0 2013 2013
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0002170
Disease: Alopecia
Alopecia 		disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0041834
Disease: Erythema
Erythema 		phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		phenotype 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C1852289
Disease: Autoamputation of digits
Autoamputation of digits 		phenotype 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C1842714
Disease: Desquamation of skin soon after birth
Desquamation of skin soon after birth 		phenotype 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		disease 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C4021222
Disease: Impaired temperature sensation
Impaired temperature sensation 		disease 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C3550430
Disease: Eclabion
Eclabion 		phenotype 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C2919341
Disease: Edema of dorsum of foot
Edema of dorsum of foot 		phenotype 0.100 None 0 0