TYMP, thymidine phosphorylase, 1890

N. diseases: 246; N. variants: 74
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 Biomarker disease CTD_human
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0872218
Disease: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.420 Biomarker group HPO
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.120 CausalMutation group CLINVAR
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		0.120 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.110 Biomarker disease HPO
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.110 Biomarker group HPO
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.110 Biomarker disease HPO
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.100 Biomarker phenotype HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0006625
Disease: Cachexia
Cachexia 		0.100 Biomarker phenotype HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0018564
Disease: Hand deformities
Hand deformities 		0.100 Biomarker group HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0021845
Disease: Intestinal Perforation
Intestinal Perforation 		0.100 Biomarker disease HPO
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.100 Biomarker group HPO
CUI: C0027497
Disease: Nausea
Nausea 		0.100 Biomarker phenotype HPO