TBXT, T-box transcription factor T, 6862

N. diseases: 41; N. variants: 4
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: C0042024
Disease: Urinary Incontinence
Urinary Incontinence
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 151 14 0.100 None 0
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
group Endocrine System Diseases Disease or Syndrome 230 26 0.010 None 1.000 1 2020 2020
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 41 2 0.300 None 0
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 185 20 0.020 None 1.000 2 2017 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.010 None 1.000 1 2012 2012
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 0
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 76 6 0.100 None 0
Spina bifida aperta of cervical spine
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 6 0.300 None 1.000 1 2004 2004
CUI: C0426848
Disease: Sacral dimple
Sacral dimple
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 69 11 0.100 None 0
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
disease Disease or Syndrome 1 1 0.700 None 1.000 1 1 2014 2014
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 15 1 0.400 None 1.000 1 1999 1999
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 29 0.300 None 0
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
disease Finding 11 30 0.400 None 1.000 2 1 2004 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.310 None 1.000 1 2002 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2016 2017
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 37 0.010 None 1.000 1 2006 2006
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata
disease Neoplasms Neoplastic Process 38 0.100 None 0
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 89 27 0.100 None 0
CUI: C0023798
Disease: Lipoma
Lipoma
disease Neoplasms Neoplastic Process 87 9 0.100 None 0
CUI: C0812426
Disease: Kidney problem
Kidney problem
phenotype Sign or Symptom 2 0.010 None 1.000 1 2020 2020
CUI: C0152234
Disease: Iniencephaly
Iniencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 0
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura
disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 338 35 0.010 None 1.000 1 2015 2015
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 473 37 0.100 None 0
CUI: C0018213
Disease: Graves Disease
Graves Disease
disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 585 352 0.010 None 1.000 1 2018 2018
CUI: C0018021
Disease: Goiter
Goiter
phenotype Endocrine System Diseases Disease or Syndrome 142 19 0.010 None 1.000 1 2020 2020