NKX2-1, NK2 homeobox 1, 7080

N. diseases: 319; N. variants: 20
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: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 7 0.800 None 0.960 25 7 2002 2018
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 7 8 0.770 None 1.000 15 8 2002 2018
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.700 None 0.947 19 1 2001 2019
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 94 48 0.500 strong 1.000 12 1995 2014
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 78 3 0.500 None 1.000 3 2000 2007
CUI: C4721429
Disease: THYROID CANCER, NONMEDULLARY, 1
THYROID CANCER, NONMEDULLARY, 1 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1 1 0.500 limited 1.000 1 1 2009 2009
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 177 37 0.470 strong 1.000 8 2002 2018
CUI: C0008489
Disease: Chorea
Chorea 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 168 20 0.460 None 1.000 6 2005 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.400 None 1.000 35 1996 2020
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.400 strong 1.000 1 2002 2002
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 11 3 0.400 None 1.000 1 1 2017 2017
CUI: C3501843
Disease: Nonmedullary Thyroid Carcinoma
Nonmedullary Thyroid Carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 89 3 0.400 None 0
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.360 None 1.000 7 2006 2018
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.330 moderate 1.000 4 2005 2016
CUI: C1859098
Disease: Chorea, Benign Familial
Chorea, Benign Familial 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 2 2003 2005
CUI: C3161105
Disease: Neuroendocrine cell hyperplasia of infancy
Neuroendocrine cell hyperplasia of infancy 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 7 0.300 strong 1.000 1 2004 2004
CUI: C0238056
Disease: Chorea, Senile
Chorea, Senile 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.300 None 0
CUI: C0152113
Disease: Rheumatic Chorea
Rheumatic Chorea 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 5 0.300 None 0
CUI: C1970270
Disease: Choreoathetosis And Congenital Hypothyroidism
Choreoathetosis And Congenital Hypothyroidism 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C3501844
Disease: Familial Nonmedullary Thyroid Cancer
Familial Nonmedullary Thyroid Cancer 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 66 2 0.300 None 0
CUI: C0699728
Disease: Chronic progressive chorea
Chronic progressive chorea 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.300 None 0
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 15 3 0.300 None 0
CUI: C0699731
Disease: Hereditary Chorea
Hereditary Chorea 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 3 0.300 None 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.200 None 1.000 10 2000 2019
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.150 None 1.000 5 2000 2014