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: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		disease 0.120 None 1.000 0 0 2010 2012
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease 0.120 None 1.000 0 0 2010 2012
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		phenotype 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		phenotype 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		phenotype 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		phenotype 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		disease 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis 		disease 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		phenotype 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C1856954
Disease: Plantar hyperkeratosis
Plantar hyperkeratosis 		phenotype 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C4477095
Disease: Increased lactate dehydrogenase activity
Increased lactate dehydrogenase activity 		phenotype 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		disease 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		disease 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1 		U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		phenotype 0.100 None 0 0