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: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		disease 0.500 strong 1.000 0 0 1994 2020
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.200 None 1.000 0 0 2012 2020
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group 0.150 None 1.000 0 0 1994 2017
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0003864
Disease: Arthritis
Arthritis 		disease 0.130 None 1.000 0 0 2015 2018
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease 0.120 None 0.500 0 0 1996 2005
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease 0.120 None 1.000 0 0 1994 2005
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0032285
Disease: Pneumonia
Pneumonia 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0025289
Disease: Meningitis
Meningitis 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0014038
Disease: Encephalitis
Encephalitis 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease 0.110 None 1.000 0 0 1998 1998
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0243026
Disease: Sepsis
Sepsis 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0037199
Disease: Sinusitis
Sinusitis 		disease 0.100 None 0 0
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		phenotype 0.100 None 0 0
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype 0.100 None 0 0
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease 0.100 None 0 0
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 0
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C1692886
Disease: Arthritis, Bacterial
Arthritis, Bacterial 		group 0.100 None 0 0
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C4025683
Disease: Lymph node hypoplasia
Lymph node hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C4025681
Disease: Recurrent enteroviral infections
Recurrent enteroviral infections 		phenotype 0.100 None 0 0
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils 		disease 0.100 None 0 0