TBX6, T-box transcription factor 6, 6911

N. diseases: 52; N. variants: 11
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: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5
disease Disease or Syndrome 5 13 0.900 strong 1.000 3 9 1985 2015
Autosomal dominant spondylocostal dysostosis
disease Musculoskeletal Diseases Disease or Syndrome 3 0.520 None 1.000 3 1985 2017
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 12 14 0.520 None 1.000 3 1985 2017
CUI: C1968949
Disease: Cakut
Cakut
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 8 0.320 None 1.000 2 2019 2019
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
disease Musculoskeletal Diseases Disease or Syndrome 6 3 0.200 None 1.000 1 1985 1985
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 4 3 0.200 None 1.000 1 1985 1985
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
disease Musculoskeletal Diseases Disease or Syndrome 7 16 0.200 None 1.000 1 1985 1985
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 49 4 0.120 None 1.000 2 2015 2017
CUI: C0559260
Disease: Congenital scoliosis
Congenital scoliosis
disease Musculoskeletal Diseases Congenital Abnormality 21 7 0.100 None 1.000 11 1 2010 2020
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 3 1 2016 2019
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 2 1 2016 2019
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 1 2016 2016
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2016 2016
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 1 2016 2016
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 1.000 1 1 2015 2015
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
Disproportionate short-trunk short stature
phenotype Finding 19 2 0.100 None 0
Abnormality of cardiovascular system morphology
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
Abnormality of female internal genitalia
disease Anatomical Abnormality 31 0.100 None 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology
disease Anatomical Abnormality 17 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C1842084
Disease: Posterior rib fusion
Posterior rib fusion
phenotype Finding 1 0.100 None 0
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae
phenotype Congenital Abnormality 13 2 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