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: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 36 16 1.000 limited 1.000 63 12 1994 2019
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: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 80 11 0.600 None 0.958 24 3 1997 2020
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: 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: 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: C0013238
Disease: Dry Eye Syndromes
Dry Eye Syndromes 		disease Eye Diseases Disease or Syndrome 156 1 0.310 None 1.000 2 2005 2013
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: C0239849
Disease: Harlequin Fetus
Harlequin Fetus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 73 1 0.310 None 1.000 1 1998 1998
CUI: C0263454
Disease: Chloracne
Chloracne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 38 0.310 None 1.000 1 2011 2011
CUI: C0149504
Disease: Encephalopathy, Toxic
Encephalopathy, Toxic 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 29 0.300 None 1.000 1 2010 2010
CUI: C0154659
Disease: Toxic Encephalitis
Toxic Encephalitis 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 29 0.300 None 1.000 1 2010 2010
CUI: C0235032
Disease: Neurotoxicity Syndromes
Neurotoxicity Syndromes 		group Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 34 0.300 None 1.000 1 2010 2010
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.300 None 1.000 1 2010 2010
CUI: C0042842
Disease: Vitamin A Deficiency
Vitamin A Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 51 1 0.300 None 1.000 1 2005 2005
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction 		phenotype Digestive System Diseases Finding 73 0.300 None 1.000 1 2010 2010
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 31 11 0.200 None 1.000 21 4 1997 2019
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.200 None 0.929 14 3 1996 2020
CUI: C0013592
Disease: Ectropion
Ectropion 		disease Eye Diseases Disease or Syndrome 50 3 0.120 None 1.000 2 2009 2016
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.110 None 1.000 1 1993 1993
CUI: C0041834
Disease: Erythema
Erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.110 None 1.000 1 2019 2019
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.110 None 1.000 1 2009 2009
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.110 None 1.000 1 2014 2014
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.110 None 1.000 1 2013 2013