TYMP - thymidine phosphorylase Gene

Also Known as TP; ECGF; ECGF1; MNGIE; MEDPS1; MTDPS1; PDECGF; hPD-ECGF

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1890

About TYMP

Cytogenetic location: 22q13.33 Genomic coordinates (GRCh38): 22:50,525,752-50,530,085 (from NCBI)

This gene has 17 transcripts (splice variants), 174 orthologues and is associated with 2 phenotypes. Broad expression in appendix (RPKM 56.4), spleen (RPKM 37.3) and 21 other tissues.

Summary

This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012]

TYMP Products (5)

mRNA Protein Name
NM_001113755.3 NP_001107227.1 thymidine phosphorylase isoform 1 precursor
NM_001113756.3 NP_001107228.1 thymidine phosphorylase isoform 1 precursor
NM_001257988.1 NP_001244917.1 thymidine phosphorylase isoform 1 precursor
NM_001257989.1 NP_001244918.1 thymidine phosphorylase isoform 2
NM_001953.5 NP_001944.1 thymidine phosphorylase isoform 1 precursor
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
1590793 GOA
enables thymidine phosphorylase activity IDA
IDA: Inferred from direct assay
1590793 GOA
enables thymidine phosphorylase activity IMP
IMP: Inferred from mutant phenotype
9924029 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in mitochondrial genome maintenance IMP
IMP: Inferred from mutant phenotype
9924029 GOA
involved in pyrimidine nucleoside metabolic process IDA
IDA: Inferred from direct assay
1590793 GOA
involved in pyrimidine nucleoside metabolic process IMP
IMP: Inferred from mutant phenotype
9924029 GOA
involved in regulation of gastric motility IMP
IMP: Inferred from mutant phenotype
9924029 GOA
involved in regulation of myelination IMP
IMP: Inferred from mutant phenotype
9924029 GOA
involved in regulation of transmission of nerve impulse IMP
IMP: Inferred from mutant phenotype
9924029 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TYMP Protein Structure

Glycos_trans_3N

Glycos_trans_3N: Glycosyl transferase family, helical bundle domain (36 - 99)

Glycos_transf_3

Glycos_transf_3: Glycosyl transferase family, a/b domain (110 - 340)

PYNP_C

PYNP_C: Pyrimidine nucleoside phosphorylase C-terminal domain (389 - 447)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 482 a.a.
Protein Preferred Names Protein Names

thymidine phosphorylase

  • gliostatin

TYMP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
TYMP P19971 ZMYND12 Homo sapiens Q9H0C1 32296183
Intra
TYMP P19971 ZMYND12 Homo sapiens Q9H0C1 32296183
Intra
TYMP P19971 ZMYND12 Homo sapiens Q9H0C1 32296183
Intra
TYMP P19971 MESD Homo sapiens Q14696 32296183
Intra
TYMP P19971 MESD Homo sapiens Q14696 32296183
Intra
TYMP P19971 MESD Homo sapiens Q14696 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

TYMP Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P810616 Thymidine Phosphorylase Antibody (YA9878) WB, IHC-P Human
HY-P810617 Thymidine Phosphorylase Antibody (YA9879) WB, IHC-P Human, Mouse, Rat
HY-P87125 Thymidine Phosphorylase Antibody (YA6818) WB, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
Mitochondrial Dna Depletion Syndrome 1
  • MTDPS1

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related

  • Myoneurogastrointestinal Encephalopathy Syndrome

  • Polip Syndrome

  • Mitochondrial Dna Depletion Syndrome, Type 1

  • Mngie, Tymp-Related

  • Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction

  • Mitochondrial Dna Depletion Syndrome 1, Mngie Type

  • Mitochondrial Neurogastrointestinal Encephalomyopathy

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related

  • Myoneurogastrointestinal Encephalomyopathy

  • Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Mitochondrial Neurogastrointestinal Encephalomyopathy
  • Mngie

  • Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Mitochondrial Dna Depletion Syndrome 4b
  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

  • Mngie Syndrome

  • Thymidine Phosphorylase Deficiency

  • MTDPS4B

  • Mitochondrial Neurogastrointestinal Encephalopathy Disease

  • Mngie

  • Myoneurogastrointestinal Encephalopathy Syndrome

  • Ogimd

  • Oculogastrointestinal Muscular Dystrophy

  • Polip

  • Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related

  • Mngie, Polg-Related

  • Mepop

  • Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction

  • Mngie Disease

  • Mitochondrial Dna Depletion Syndrome 4b Mngie Type

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related

  • Mngie Polg-Related

  • Mitochondrial Dna Depletion Syndrome, Type 4b

  • Visceral Myopathy Familial External Ophthalmoplegia

Myopia 6
  • MYP6

  • Myopia, Susceptibility To

  • Myopia, Type 6

Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency
  • Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency

  • Fatal Infantile Cox Deficiency

  • Fatal Infantile Cytochrome C Oxidase Deficiency

  • Fatal Infantile Encephalocardiomyopathy

Mitochondrial Complex Iv Deficiency, Nuclear Type 2
  • Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 1

  • MC4DN2

  • Cemcox1

  • Mitochondrial Complex Ii Deficiency, Nuclear Type 4

  • MC2DN4

  • Mitochondrial Complex 2 Deficiency, Nuclear Type 4

  • Cytochrome C Oxidase Deficiency, Fatal Infantile, With Cardioencephalomyopathy

  • Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency 1

  • Cytochrome C Oxidase Deficiency With Fatal Infantile Cardioencephalomyopathy

  • Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency

Rectum Cancer
  • Malignant Neoplasm Of Rectum

  • Rectal Cancer

  • Cancer Of Rectum

  • Carcinoma Of Rectum

  • Carcinoma Of The Rectum

  • Malignant Rectal Tumor

  • Malignant Rectum Tumor

  • Malignant Tumor Of Rectum

  • Rectal Carcinoma

  • Rectal Cancers

  • Cancer, Rectal

Chronic Progressive External Ophthalmoplegia
  • Progressive External Ophthalmoplegia

  • Cpeo

  • Peo

  • Ophthalmoplegia, Chronic Progressive External

  • Ophthalmoplegia, External, Progressive, Chronic

  • Graefe Disease

  • Peo - [Progressive External Ophthalmoplegia]

  • Ophthalmoplegia Plus Syndrome

Pancreatic Ductal Carcinoma
  • Carcinoma, Pancreatic Ductal

  • Malignant Neoplasm Of Duct Of Wirsung

  • Pancreatic Duct Cancer

  • Carcinoma Pancreatic Ductal

Intestinal Pseudo-Obstruction
  • Chronic Intestinal Pseudoobstruction

  • Chronic Intestinal Pseudo-Obstruction

  • Cipo

  • Neuronal Intestinal Dysplasia

  • Hollow Visceral Myopathy

  • Familial Visceral Neuropathy

  • Paralytic Ileus

  • Intestinal Pseudoobstruction

  • Chronic Idiopathic Intestinal Pseudo-Obstruction

  • Ciip

  • Congenital Short Bowel Syndrome

  • Enteric Neuropathy

  • Familial Visceral Myopathy

  • Ipo

  • Pseudo-Obstruction Of Intestine

  • Pseudointestinal Obstruction Syndrome

  • Pseudoobstructive Syndrome

  • Congenital Idiopathic Intestinal Pseudoobstruction

  • Visceral Myopathy, Familial

Cervical Squamous Cell Carcinoma
  • Squamous Cell Carcinoma Of The Cervix Uteri

  • Squamous Cell Carcinoma Of Cervix

Mitochondrial Dna Depletion Syndrome
  • Mtdna Depletion Syndrome

Adenocarcinoma
  • Adenocarcinomas

  • Adenoacanthoma Of Unspecified Site

  • Adenocarcinoid Of Unspecified Site

  • Adenocarcinoid Tumour Of Unspecified Site

  • Adenocarcinoma And Carcinoid Combined Of Unspecified Site

  • Adenocarcinoma Nos

Bladder Cancer
  • Urinary Bladder Cancer

  • Bladder Carcinoma

  • Urinary Bladder Carcinoma

  • Bladder Neoplasm

  • Bladder Tumor

  • Cancer, Bladder

  • Malignant Neoplasm Of Urinary Bladder

  • Carcinoma Of Bladder

  • Bladder Cancer, Somatic

  • Tumor Of The Bladder

  • Carcinoma Of Urinary Bladder

  • Bladder Carcinoma Urinary

  • Cancer Of The Urinary Bladder

  • Cancer, Urinary Bladder

  • Malignant Bladder Neoplasm

  • Malignant Bladder Tumor

  • Neoplasm Of The Bladder

  • Neoplasm Of The Urinary Bladder

  • Tumor Of The Urinary Bladder

  • Urinary Bladder Neoplasm

  • BLC

  • Urothelial Carcinoma Of The Bladder

  • Bladder Tumors

  • Urinary Bladder Neoplasms

  • Bladder Cancer Nos

  • Vesical Cancer Nos

  • Malignant Neoplasm Of Bladder, Part Unspecified

  • Malignant Tumour Of Urinary Bladder

  • Primary Malignant Neoplasm Of Bladder

Endometrial Cancer
  • Endometrial Carcinoma

  • Endometrial Neoplasm

  • Malignant Neoplasm Of Endometrium

  • Endometrioid Carcinoma

  • Endometrial Neoplasms

  • Carcinoma, Endometrioid

  • Endometrial Cancer, Familial

  • Endometrial Carcinoma, Somatic

  • Endometrial Cancer, Susceptibility To

  • Endometrial Ca

  • Malignant Endometrial Neoplasm

  • Neoplasm Of Endometrium

  • Primary Malignant Neoplasm Of Endometrium

  • Tumor Of Endometrium

  • Carcinoma Of The Endometrium

  • Endometrioid Carcinoma Of Female Reproductive System

  • ENDMC

  • Carcinoma Endometrioid

  • Endometrial Cancers

  • Cancer, Endometrial

  • Uterine Corpus Cancer

Serous Cystadenocarcinoma
  • Serous Adenocarcinoma

  • Cystadenocarcinoma, Serous

  • Serous Carcinoma

  • Cystadenocarcinoma Serous

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

Kearns-Sayre Syndrome
  • Ophthalmoplegia

  • Mitochondrial Cytopathy

  • KSS

  • Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy

  • Oculocraniosomatic Syndrome

  • Chronic Progressive External Ophthalmoplegia With Myopathy

  • Cpeo With Myopathy

  • Total Ophthalmoplegia

  • Ophthalmoplegia-Plus Syndrome

  • Ophthalmoplegia, Progressive External, With Ragged-Red Fibers

  • Cpeo With Ragged-Red Fibers

  • Oculomotor Paralysis

  • Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O

  • Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna

  • Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia

  • Cpeo With Ragged Red Fibers

  • Ophthalmoplegia Plus Syndrome

  • Ophthalmoplegia, Progressive External, With Ragged Red Fibers

  • Kearns-Sayre Mitochondrial Cytopathy

  • Mitochondrial Myopathies

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Ptosis
  • Blepharoptosis

  • Drooping Eyelid

  • Droopy Eyelid

  • Ptosis Of Eyelid

  • Paralysis Of Levator Palpebrae Superioris

Gastric Cancer
  • Stomach Cancer

  • Gastric Carcinoma

  • Stomach Carcinoma

  • Gastric Cancer, Somatic

  • Gastric Neoplasm

  • Carcinoma Of Stomach

  • Stomach Neoplasms

  • Malignant Neoplasm Of Stomach

  • Gastric Cancer Risk After H. Pylori Infection

  • Cancer Of The Stomach

  • Adult Stomach Cancer

  • Adult Stomach Carcinoma

  • GASC

  • Gastric Cancer Intestinal

  • Gastric Cancers

  • Gastric Carcinomas

  • Cancer, Gastric

  • Stomach Neoplasm

  • Malignant Neoplasm Of Body Of Stomach

  • Malignant Tumor Of Lesser Curve Of Stomach

  • Gastrocarcinoma Of Unspecified Site

  • Leather Bottle Stomach

  • Carcinoma Of Fundus Of Stomach

  • Cancer Of Fundus Of Stomach

  • Primary Malignant Neoplasm Of Body Of Stomach

  • Cancer Of Body Of Stomach

  • Primary Malignant Neoplasm Of Pyloric Antrum

  • Pyloric Antrum Cancer

  • Malignant Tumour Of Stomach

Pyloric Stenosis
Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Susceptibility To

  • Lung Cancer, Protection Against

  • Adenocarcinoma Of Lung, Somatic

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

Pancreatic Adenocarcinoma
  • Adenocarcinoma Of The Pancreas

  • Adenocarcinoma Of Pancreas

  • Pancreas Adenocarcinoma

  • Malignant Exocrine Neoplasm

  • Primary Pancreatic Adenocarcinoma

  • Adenocarcinoma Of Islet Cell Of Pancreas

  • Islet Cell Adenocarcinoma Of Unspecified Site

  • Mixed Adenocarcinoma Islet Cell With Exocrine Of Unspecified Site

Gastric Adenocarcinoma
  • Adenocarcinoma Of Stomach

  • Stomach Adenocarcinoma

  • Adenocarcinoma Gastric

  • Intestinal Type Adenocarcinoma Of Unspecified Site

  • Diffuse Type Adenocarcinoma Of Unspecified Site

Ocular Motility Disease
  • Ocular Motility Disorders

  • Abnormality Of Eye Movement

  • Disorder Of Eye Movements

  • Eye Movement Disorder

  • Eye Movement Disorders

Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
  • SANDO

  • Mitochondrial Recessive Ataxia Syndrome

  • Spinocerebellar Ataxia With Epilepsy

  • Epilepsy, Progressive Myoclonic 5

  • Epm5

  • Miras

  • SCAE

  • Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive

  • Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions

  • Progressive Myoclonic Epilepsy Type 5

  • Pme Type 5

  • Progressive Myoclonus Epilepsy Type 5

  • Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome

  • Recessive Mitochondrial Ataxia Syndrome

  • Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis

  • Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome

  • Mscae

  • Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive

  • Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy

  • Epilepsy, Progressive Myoclonic, 5

  • Ataxia Neuropathy Spectrum

Mitochondrial Dna Depletion Syndrome 6
  • Navajo Neurohepatopathy

  • Navajo Neuropathy

  • MTDPS6

  • Nnh

  • Nn

  • Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

  • Navajo Familial Neurogenic Arthropathy

  • Mpv17-Associated Hepatocerebral Mds

  • Mitochondrial Dna Depletion 6 Hepatocerebral Type

  • Mitochondrial Dna Depletion Syndrome , Type 6

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
  • PEOA4

  • Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4

  • Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4

  • Chronic Progressive External Ophthalmoplegia

  • Progressive External Ophthalmoplegia, Autosomal Dominant 4

  • Autosomal Dominant Progressive External Ophthalmoplegia 4

  • Cpeo

  • Graefe Disease

  • Mitochondrial Ocular Myopathy

  • Ocular Myopathy Of Von Graefe-Fuchs

  • Progressive External Ophthalmoplegia Autosomal Dominant 4

  • Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4

  • Kearns-Sayre Syndrome

Gallbladder Cancer
  • Gallbladder Carcinoma

  • Gallbladder Neoplasm

  • Malignant Neoplasm Of Gallbladder

  • Malignant Tumour Of Gallbladder

  • Gallbladder Ca

  • Localized Malignant Gallbladder Neoplasm

  • Malignant Tumor Of The Gallbladder

  • Tumor Of The Gallbladder

  • Cancer Of The Gallbladder

  • Carcinoma Gallbladder

  • Carcinoma Of Gallbladder

  • Gallbladder Neoplasms

  • Malignant Neoplasm Of Gallbladder Localized

  • Cancer Of Gallbladder

  • Primary Malignant Neoplasm Of Gallbladder

Superior Mesenteric Artery Syndrome
  • Wilkie Syndrome

  • Wilkie'S Syndrome

  • Arteriomesenteric Duodenal Compression Syndrome

  • Cast Syndrome

  • Vascular Compression Of The Duodenum

  • Smas

  • Arteriomesenteric Compression Of Duodenojejunal Flexure

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

  • Berdon Syndrome

  • MMIHS

  • Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

  • Megacystis, Microcolon, Hypoperistalsis Syndrome

  • Visceral Myopathy

  • Mmih Syndrome

  • Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

  • MMIHS1

  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

  • Mmhs

Dihydropyrimidine Dehydrogenase Deficiency
  • Dpd Deficiency

  • Familial Pyrimidinemia

  • Hereditary Thymine-Uraciluria

  • Dihydropyrimidinuria

  • Dpyd Deficiency

  • Thymine-Uraciluria, Hereditary

  • Pyrimidinemia, Familial

  • 5-Fluorouracil Toxicity

  • Dihydrouracil Dehydrogenase Deficiency

  • Familial Pyrimidinaemia

  • Thymine-Uracilurea

  • Familial Pyrimidemia

  • Pyrimidinemia Familial

  • DPYDD

Cervical Cancer
  • Cervical Cancer, Somatic

  • Neoplasm Of Uterine Cervix

  • Cervix Cancer

  • Uterine Cervical Neoplasm

  • Cervical Neoplasm

  • Cervix Uteri Cancer

  • Tumor Of The Cervix Uteri

  • CERCA

  • Uterine Cervical Cancer

  • Neoplasms Cervical

  • Uterine Cervical Neoplasms

  • Cervical Cancers

  • Cancer, Cervical, Somatic

  • Malignant Tumor Of Cervix

  • Cervix Carcinoma

Oropharynx Cancer
  • Oropharyngeal Cancer

  • Oropharyngeal Carcinoma

  • Malignant Neoplasm Of Oropharynx

  • Malignant Oropharyngeal Tumor

  • Malignant Tumor Of Oropharynx

  • Malignant Tumour Of Mesopharynx

  • Oropharyngeal Cancer, Adult

  • Cancer Of The Oropharynx

Mitochondrial Dna Depletion Syndrome 4a
  • Alpers Syndrome

  • Alpers-Huttenlocher Syndrome

  • Alpers Progressive Infantile Poliodystrophy

  • Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis

  • Alpers Disease

  • Progressive Sclerosing Poliodystrophy

  • Pndc

  • Diffuse Cerebral Sclerosis Of Schilder

  • MTDPS4A

  • Neuronal Degeneration Of Childhood With Liver Disease, Progressive

  • Alper'S Syndrome

  • Alpers' Disease Or Gray-Matter Degeneration

  • Diffuse Cerebral Degeneration In Infancy

  • Infantile Poliodystrophy

  • Poliodystrophia Cerebri Progressiva

  • Progressive Cerebral Poliodystrophy

  • Alpers' Disease

  • Alpers Progressive Sclerosing Poliodystrophy

  • Progressive Neuronal Degeneration Of Childhood With Liver Disease

  • Ahs

  • Mitochondrial Dna Depletion Syndrome 4a Alpers Type

  • Neuronal Degeneration Of Childhood With Liver Disease Progressive

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Carcinoma Of Pancreas

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Cancer Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Encephalopathy, Ethylmalonic
  • Ethylmalonic Encephalopathy

  • EE

  • Epema Syndrome

  • Encephalopathy, Petechiae, And Ethylmalonic Aciduria

  • Ethe1 Deficiency

  • Eme

  • Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria

Esophageal Cancer
  • Esophageal Carcinoma

  • Carcinoma Of Esophagus

  • Esophageal Squamous Cell Carcinoma, Somatic

  • Esophageal Carcinoma, Somatic

  • Esophagus Cancer

  • Gastric Cardia Adenocarcinoma

  • Esophageal Neoplasms

  • Esophageal Cancer, Somatic

  • Cancer Of Esophagus

  • Cancer Of Oesophagus

  • Carcinoma Of Oesophagus

  • Ca Lower Third Oesophagus

  • Ca Middle Third Oesophagus

  • Malignant Neoplasm Of Distal Third Of Esophagus

  • Malignant Neoplasm Of Lower Third Of Oesophagus

  • Malignant Neoplasm Of Middle Third Of Oesophagus

  • Malignant Neoplasm Of Proximal Third Of Esophagus

  • Malignant Neoplasm Of Upper Third Esophagus

  • Malignant Tumor Of Abdominal Esophagus

  • Malignant Tumor Of Distal Third Of Esophagus

  • Malignant Tumor Of Proximal Third Of Esophagus

  • Malignant Tumor Of The Middle Third Of The Esophagus

  • ESCR

  • Aerodigestive Tract Cancer

  • Escc

  • Esophageal Squamous Cell Carcinoma

  • Cancer, Esophageal

  • Malignant Neoplasm Of Esophagus

  • Squamous Cell Carcinoma Of Esophagus

  • Malignant Neoplasm Of Middle Third Of Esophagus

Mitochondrial Dna Depletion Syndrome 7
  • Ohaha Syndrome

  • Infantile Onset Spinocerebellar Ataxia

  • Iosca

  • Infantile-Onset Spinocerebellar Ataxia

  • Spinocerebellar Ataxia 8

  • MTDPS7

  • Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis

  • Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome

  • Sca8

  • Spinocerebellar Ataxia Infantile With Sensory Neuropathy

  • Spinocerebellar Ataxia, Infantile-Onset

  • Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis

  • Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy

  • Spinocerebellar Ataxia 8, Formerly

  • Sca8, Formerly

  • Iosca, Mitochondrial Dna Depletion Syndrome 7

  • Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis

  • Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

  • Mtdna Depletion Syndrome, Hepatocerebrorenal Form

  • Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type

  • Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis

  • Pure Spinocerebellar Ataxia Japanese Type

  • Sca4 Pure Japanese Type

  • Spinocerebellar Ataxia Infantile-Onset

  • Mitochondrial Dna Depletion Syndrome , Type 7

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

Mitochondrial Myopathy
  • Mitochondrial Myopathies

  • Mitochondrial Cytopathy

  • Myopathies In Mitochondrial Disorders

Mitochondrial Encephalomyopathy
  • Mitochondrial Encephalomyopathies

  • Encephalomyopathy, Mitochondrial

Renal Cell Carcinoma, Nonpapillary
  • Renal Cell Carcinoma

  • RCC

  • Nonpapillary Renal Cell Carcinoma

  • Clear Cell Renal Cell Carcinoma

  • Hypernephroma

  • Adenocarcinoma Of Kidney

  • Renal Carcinoma, Chromophobe, Somatic

  • Clear Cell Carcinoma Of Kidney

  • Clear-Cell Metastatic Renal Cell Carcinoma

  • Clear Cell Renal Carcinoma

  • Renal Cell Carcinoma, Somatic

  • Conventional Renal Cell Carcinoma

  • Conventional Renal Cell Carcinoma

  • Renal Clear Cell Carcinoma

  • Ccrcc

  • Hereditary Clear Cell Renal Cell Carcinoma

  • Carcinoma, Renal Cell

  • Renal Cell Carcinoma, Clear Cell, Somatic

  • Renal Cell Carcinoma, Clear Cell

  • Clear Cell Kidney Carcinoma

  • Clear Cell Rcc

  • Cystic-Multilocular Variant

  • Clear Cell Renal Cell Adenocarcinoma

  • Hereditary Clear Cell Renal Cell Adenocarcinoma

  • Common Renal Cell Carcinoma

  • Crcc

  • Renal Cell Carcinoma Non-Papillary

  • Carcinoma Renal Cell

  • Renal Cell Cancer

  • Carcinoma, Renal Cell, Nonpapillary

Myopathy
  • Muscular Diseases

  • Myopathies

Hepatocellular Carcinoma
  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Carcinoma, Hepatocellular

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour

3-Methylglutaconic Aciduria, Type Iii
  • Optic Atrophy

  • 3-Methylglutaconic Aciduria Type 3

  • Costeff Syndrome

  • Mga3

  • Costeff Optic Atrophy Syndrome

  • Optic Atrophy Plus Syndrome

  • Infantile Optic Atrophy With Chorea And Spastic Paraplegia

  • 3-Methylglutaconic Aciduria Type Iii

  • Autosomal Recessive Optic Atrophy Plus Syndrome

  • Autosomal Recessive Optic Atrophy Type 3

  • Opa3 Defect

  • MGCA3

  • Mga, Type Iii

  • Iraqi Jewish Optic Atrophy Plus

  • Mga Type Iii

  • Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

  • Iraqi-Jewish 'Optic Atrophy Plus'

  • Optic Atrophy 3, Autosomal Recessive

  • Opa3, Autosomal Recessive

  • Opa3-Related 3-Methylglutaconic Aciduria

  • Iraqi-Jewish Optic Atrophy Plus

  • Atrophy Of Optic Disc

  • 3-Alpha Methylglutaconic Aciduria Type Iii

  • Optic Atrophy 3

  • Optic Atrophy Infantile With Chorea And Spastic Paraplegia

  • Autosomal Recessive Opa3

  • Autosomal Recessive Optic Atrophy 3

  • 3-Methylglutaconic Aciduria 3

  • 3-Alpha-Methylglutaconic Aciduria Type 3

  • Optic Atrophy 3 Autosomal Recessive

  • Atrophy, Optic

  • Atrophy, Optic, Plus Syndrome

  • Optic Nerve Atrophy

  • Primary Optic Atrophy

  • Oa - [Optic Atrophy]

  • Second Cranial Nerve Atrophy

  • Second Cranium Nerve Atrophy

Leukodystrophy
  • Leukodystrophies

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
  • Melas Syndrome

  • MELAS

  • Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

  • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

  • Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

  • Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Leber Hereditary Optic Neuropathy, Modifier Of
  • Leber Optic Atrophy

  • Leber Hereditary Optic Neuropathy

  • LHON

  • Leber'S Hereditary Optic Neuropathy

  • Leber Optic Atrophy, Susceptibility To

  • Leber'S Optic Atrophy

  • LOAM

  • Loas

  • Leber'S Disease

  • Leber'S Optic Neuropathy

  • Optic Atrophy, Hereditary, Leber

  • Lhon, Modifier Of

  • Optic Atrophy, Leber Type

  • Hereditary Optic Neuroretinopathy

  • Leber Hereditary Optic Atrophy

  • Loa

  • Optic Atrophy Leber Type

  • Leber Hereditary Optic Neuropathy, Modifier

  • Leber Hereditary Optic Neuropathy Susceptibility

  • Modifier Of Leber Hereditary Optic Neuropathy

  • Lebers Hereditary Optic Neuropathy

  • Leber Congenital Amaurosis

Lung Cancer Susceptibility 3
  • Lung Adenocarcinoma

  • Adenocarcinoma Of Lung

  • LNCR3

  • Adenocarcinoma Of Lung, Susceptibility To

  • Bronchogenic Lung Adenocarcinoma

  • Nonsmall Cell Adenocarcinoma

  • Adenocarcinoma Lung

  • Lung Adenocarcinomas

  • Non-Small Cell Adenocarcinoma

Leigh Syndrome
  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus TYMP MGD MGI:1920212
Rattus norvegicus TYMP RGD RGD:1305756