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: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		group 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C4020958
Disease: Rough bone trabeculation
Rough bone trabeculation 		disease 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin 		phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		disease 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		disease 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C4476639
Disease: Ground-glass opacification on pulmonary HRCT
Ground-glass opacification on pulmonary HRCT 		phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C4476748
Disease: Reticular pattern on pulmonary HRCT
Reticular pattern on pulmonary HRCT 		phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis 		phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle 		phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
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: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		disease 0.100 None 0 0