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: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.110 None 1.000 1 2013 2013
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: 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: C0022579
Disease: Keratoderma
Keratoderma 		disease Skin and Connective Tissue Diseases Congenital Abnormality 24 2 0.010 None 1.000 1 1998 1998
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: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 85 13 0.010 None 1.000 1 2013 2013
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.010 None 1.000 1 2013 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: 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: 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: 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: 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: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 107 84 0.100 None 1.000 12 2010 2019
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 104 12 0.070 None 1.000 7 2007 2013
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: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.030 None 1.000 3 2002 2006
CUI: C0033860
Disease: Psoriasis
Psoriasis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.030 None 1.000 3 1992 1994
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 1.000 2 1999 2001
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: C0013592
Disease: Ectropion
Ectropion 		disease Eye Diseases Disease or Syndrome 50 3 0.120 None 1.000 2 2009 2016
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.020 None 1.000 2 1996 2003
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.020 None 1.000 2 1994 2007
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: 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