Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.400 None 1.000 0 0 2005 2006
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		disease 0.140 None 1.000 0 0 2001 2015
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C1851720
Disease: Adrenocortical cytomegaly
Adrenocortical cytomegaly 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C4021539
Disease: Posterior helix pit
Posterior helix pit 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C1851733
Disease: Pancreatic hyperplasia
Pancreatic hyperplasia 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C1851722
Disease: Overgrowth of external genitalia
Overgrowth of external genitalia 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		phenotype 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		disease 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		phenotype 0.100 None 0 0