TGM1, transglutaminase 1, 7051

N. diseases: 117; N. variants: 88
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0474339
Disease: Keratinization of ocular surface
Keratinization of ocular surface 		disease Disease or Syndrome 1 0.010 None 1.000 1 1999 1999
CUI: C4305324
Disease: Acral self-healing collodion baby
Acral self-healing collodion baby 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 1 0.310 None 1.000 1 2009 2009
CUI: C4476827
Disease: Palmoplantar scaling skin
Palmoplantar scaling skin 		phenotype Finding 1 0.100 None 0
CUI: C1274215
Disease: Autosomal recessive ichthyosis
Autosomal recessive ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 2 0.030 None 1.000 3 1998 2008
CUI: C4511230
Disease: Bathing suit ichthyosis
Bathing suit ichthyosis 		disease Disease or Syndrome 3 1 0.550 None 1.000 7 1 1998 2017
CUI: C1855789
Disease: Self-Healing Collodion Baby
Self-Healing Collodion Baby 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 4 0.510 None 1.000 5 1998 2017
CUI: C3543867
Disease: Collodion Fetus
Collodion Fetus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.500 None 1.000 2 1998 2002
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 80 0.900 None 1.000 65 79 1995 2017
CUI: C0432347
Disease: Uncombable hair syndrome
Uncombable hair syndrome 		disease Skin and Connective Tissue Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C2919341
Disease: Edema of dorsum of foot
Edema of dorsum of foot 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 5 2 0.100 None 0
CUI: C3550430
Disease: Eclabion
Eclabion 		phenotype Finding 6 2 0.100 None 0
CUI: C3536797
Disease: Ichthyosis Congenita II
Ichthyosis Congenita II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 7 0.510 None 1.000 3 1998 2010
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 7 16 0.100 None 0
CUI: C1852289
Disease: Autoamputation of digits
Autoamputation of digits 		phenotype Musculoskeletal Diseases Finding 8 0.100 None 0
CUI: C4021222
Disease: Impaired temperature sensation
Impaired temperature sensation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 0.100 None 0
CUI: C0392663
Disease: Infection by Wuchereria bancrofti
Infection by Wuchereria bancrofti 		disease Infections; Hemic and Lymphatic Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2004 2004
CUI: C2732374
Disease: Edema of dorsum of hand
Edema of dorsum of hand 		phenotype Pathological Conditions, Signs and Symptoms Finding 9 0.100 None 0
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 10 18 0.010 None 1.000 1 2013 2013
CUI: C1557335
Disease: Ocular surface disease
Ocular surface disease 		disease Disease or Syndrome 12 0.010 None 1.000 1 2001 2001
CUI: C1842714
Disease: Desquamation of skin soon after birth
Desquamation of skin soon after birth 		phenotype Finding 14 0.100 None 0
CUI: C2720163
Disease: Placental Steroid Sulfatase Deficiency
Placental Steroid Sulfatase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 17 0.010 None 1.000 1 2013 2013
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 20 35 0.010 None 1.000 1 1 1999 1999
CUI: C0237849
Disease: Peeling of skin
Peeling of skin 		phenotype Finding 21 0.100 None 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		phenotype Finding 21 2 0.100 None 0
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		phenotype Finding 22 0.100 None 0