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: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
disease 0.180 None 1.000 0 0 2003 2019
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease 0.150 None 0.800 0 0 2008 2016
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease 0.140 None 1.000 0 0 2004 2012
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group 0.140 None 1.000 0 0 2006 2014
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype 0.120 None 1.000 0 0 2011 2019
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease 0.120 None 1.000 0 0 2011 2016
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.110 None 1.000 0 0 2015 2015
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0423820
Disease: Ridged nails
Ridged nails
phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C1851972
Disease: Reticular hyperpigmentation
Reticular hyperpigmentation
phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla
disease 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation
phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0241984
Disease: Honeycomb lung
Honeycomb lung
disease 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0263498
Disease: Premature canities
Premature canities
phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0266039
Disease: Taurodontism
Taurodontism
disease 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia
phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0