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: C0431691
Disease: Unilateral Renal Hypoplasia
Unilateral Renal Hypoplasia 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 1 0.010 None 1.000 1 2019 2019
CUI: C1842084
Disease: Posterior rib fusion
Posterior rib fusion 		phenotype Finding 1 0.100 None 0
CUI: C4274761
Disease: Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysostosis 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.520 None 1.000 3 1985 2017
CUI: C0344976
Disease: Pulmonary Atresia With Ventricular Septal Defect
Pulmonary Atresia With Ventricular Septal Defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 3 0.010 None 1.000 1 2019 2019
CUI: C3150942
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 4 3 0.200 None 1.000 1 1985 1985
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		disease Disease or Syndrome 5 13 0.900 strong 1.000 3 9 1985 2015
CUI: C1853296
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 		disease Musculoskeletal Diseases Disease or Syndrome 6 3 0.200 None 1.000 1 1985 1985
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		disease Musculoskeletal Diseases Disease or Syndrome 7 16 0.200 None 1.000 1 1985 1985
CUI: C0431637
Disease: Mullerian aplasia
Mullerian aplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 0.010 None 1.000 1 2013 2013
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: C0345397
Disease: Accessory rib
Accessory rib 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 12 0.100 None 0
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae 		phenotype Congenital Abnormality 13 2 0.100 None 0
CUI: C1321884
Disease: Atresia of vagina
Atresia of vagina 		disease Congenital Abnormality 16 0.010 None 1.000 1 2019 2019
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology 		disease Anatomical Abnormality 17 0.100 None 0
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype Congenital Abnormality 18 1 0.100 None 0
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		phenotype Finding 19 2 0.100 None 0
CUI: C0559260
Disease: Congenital scoliosis
Congenital scoliosis 		disease Musculoskeletal Diseases Congenital Abnormality 21 7 0.100 None 1.000 11 1 2010 2020
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		disease Anatomical Abnormality 31 0.100 None 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		disease Musculoskeletal Diseases Congenital Abnormality 40 6 0.100 None 0
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: C0426789
Disease: Short thorax
Short thorax 		phenotype Finding 51 8 0.100 None 0
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		phenotype Finding 53 1 0.100 None 0
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 55 9 0.020 None 1.000 2 2016 2017
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		disease Anatomical Abnormality 58 2 0.010 None 1.000 1 2016 2016
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 59 123 0.030 None 1.000 3 2013 2019