Source: ALL

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: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C3280866
Disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) 		disease 0.710 None 1.000 3 7 2011 2019
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.400 limited 1.000 1 0 2017 2017
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease 0.110 None 1.000 2 1 2017 2017
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0036787
Disease: SERUM CHLORIDE ION TESTS
SERUM CHLORIDE ION TESTS 		phenotype 0.100 None 1.000 1 1 2013 2013
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0678232
Disease: Serum chloride level result
Serum chloride level result 		phenotype 0.100 None 1.000 1 1 2013 2013
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0042571
Disease: Vertigo
Vertigo 		phenotype 0.100 None 0 0
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype 0.100 None 0 0
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group 0.020 None 1.000 2 0 2014 2019
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C1843807
Disease: Basal ganglia disease, biotin-responsive
Basal ganglia disease, biotin-responsive 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 27010
Gene Symbol: TPK1
TPK1 		thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group 0.010 None 1.000 1 0 2017 2017