NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
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: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		disease Disease or Syndrome 1 31 0.800 None 1.000 7 31 1998 2017
CUI: C0744669
Disease: Complex congenital heart disease
Complex congenital heart disease 		disease Disease or Syndrome 7 1 0.020 None 1.000 2 2004 2004
CUI: C3280785
Disease: VENTRICULAR SEPTAL DEFECT 3
VENTRICULAR SEPTAL DEFECT 3 		disease Disease or Syndrome; Congenital Abnormality 1 2 0.500 moderate 1.000 2 2 2010 2011
CUI: C3280795
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2
HYPOPLASTIC LEFT HEART SYNDROME 2 		disease Disease or Syndrome 8 11 0.500 None 1.000 2 1 2003 2005
CUI: C0238415
Disease: SCLERODERMA, PULMONARY
SCLERODERMA, PULMONARY 		disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0266283
Disease: Ectopic thyroid tissue (disorder)
Ectopic thyroid tissue (disorder) 		phenotype Disease or Syndrome 8 1 0.400 None 1.000 1 2006 2006
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		group Disease or Syndrome 62 2 0.010 None 1.000 1 1 2007 2007
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2017 2017
CUI: C1409792
Disease: Coronary sinus defect
Coronary sinus defect 		disease Congenital Abnormality 5 0.200 None 1.000 1 2017 2017
CUI: C2910126
Disease: Patent or persistent ostium secundum defect (type II)
Patent or persistent ostium secundum defect (type II) 		disease Disease or Syndrome 4 0.200 None 1.000 1 2017 2017
CUI: C2910127
Disease: Patent or persistent sinus venosus defect
Patent or persistent sinus venosus defect 		disease Disease or Syndrome 4 0.200 None 1.000 1 2017 2017
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease Congenital Abnormality 154 26 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		phenotype Finding 77 3 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype Finding 99 8 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 133 13 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		phenotype Finding 53 2 0.100 None 0
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype Finding 48 14 0.100 None 0
CUI: C1969292
Disease: Thoracic aorta calcification
Thoracic aorta calcification 		phenotype Finding 4 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0