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: C0020620
Disease: Hypohidrosis
Hypohidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 1 0.110 None 1.000 1 2009 2009
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: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0392163
Disease: Corneal erosion
Corneal erosion 		disease Infections; Eye Diseases Disease or Syndrome 33 1 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 0.100 None 0
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 163 6 0.100 None 0
CUI: C0237849
Disease: Peeling of skin
Peeling of skin 		phenotype Finding 21 0.100 None 0
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.100 None 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 140 16 0.100 None 0
CUI: C4476827
Disease: Palmoplantar scaling skin
Palmoplantar scaling skin 		phenotype Finding 1 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		phenotype Finding 22 0.100 None 0
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		phenotype Finding 52 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: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C3550430
Disease: Eclabion
Eclabion 		phenotype Finding 6 2 0.100 None 0
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: 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: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype Finding 137 0.100 None 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype Finding 84 3 0.100 None 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		phenotype Finding 21 2 0.100 None 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype Finding 105 3 0.100 None 0
CUI: C1852289
Disease: Autoamputation of digits
Autoamputation of digits 		phenotype Musculoskeletal Diseases Finding 8 0.100 None 0