SLC2A1 - solute carrier family 2 member 1 Gene

Also Known as CSE; PED; DYT9; GLUT; DYT17; DYT18; EIG12; GLUT1; HTLVR; GLUT-1; SDCHCN; GLUT1DS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6513

About SLC2A1

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:42,925,353-42,958,868 (from NCBI)

This gene has 15 transcripts (splice variants), 374 orthologues, 13 paralogues and is associated with 14 phenotypes. Biased expression in placenta (RPKM 289.6), skin (RPKM 60.0) and 6 other tissues.

Summary

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]

SLC2A1 Products (1)

mRNA Protein Name
NM_006516.4 NP_006507.2 solute carrier family 2, facilitated glucose transporter member 1
Molecular Function GO Annotation Evidence References Source
enables D-glucose transmembrane transporter activity IDA
IDA: Inferred from direct assay
2211693 GOA
enables D-glucose transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
1714544 GOA
enables dehydroascorbic acid transmembrane transporter activity EXP
EXP: Inferred from Experiment
9228080 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
1429721 GOA
enables long-chain fatty acid transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
10227690 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18347014 GOA
Biological Process GO Annotation Evidence References Source
involved in D-glucose import across plasma membrane IGI
IGI: Inferred from genetic interaction
23975336 GOA
involved in D-glucose import across plasma membrane IMP
IMP: Inferred from mutant phenotype
1714544 GOA
involved in D-glucose transmembrane transport IDA
IDA: Inferred from direct assay
1429721 GOA
involved in D-glucose transmembrane transport IMP
IMP: Inferred from mutant phenotype
21791420 GOA
acts upstream of or within central nervous system development IMP
IMP: Inferred from mutant phenotype
1714544 GOA
involved in long-chain fatty acid import across plasma membrane IMP
IMP: Inferred from mutant phenotype
10227690 GOA
involved in protein-containing complex assembly IDA
IDA: Inferred from direct assay
18347014 GOA
involved in transport across blood-brain barrier IGI
IGI: Inferred from genetic interaction
23975336 GOA
acts upstream of or within transport across blood-brain barrier IMP
IMP: Inferred from mutant phenotype
1714544 GOA
involved in transport across blood-brain barrier IMP
IMP: Inferred from mutant phenotype
28993322 GOA
Cellular Component GO Annotation Evidence References Source
located in apical plasma membrane IDA
IDA: Inferred from direct assay
31678436 GOA
located in basolateral plasma membrane IDA
IDA: Inferred from direct assay
31791063 GOA
located in cortical actin cytoskeleton IDA
IDA: Inferred from direct assay
18347014 GOA
part of glucose transporter complex IPI
IPI: Inferred from physical interaction
1429721 GOA
located in membrane IDA
IDA: Inferred from direct assay
1714544 GOA
located in midbody IDA
IDA: Inferred from direct assay
15166316 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
2211693 GOA
is active in plasma membrane IMP
IMP: Inferred from mutant phenotype
10227690 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

SLC2A1 Protein Structure

Sugar_tr

Sugar_tr: Sugar (and other) transporter (19 - 466)

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

solute carrier family 2, facilitated glucose transporter member 1

  • choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)

  • dystonia gene 18

  • dystonia gene 9

  • glucose transporter type 1, erythrocyte/brain

  • hepG2 glucose transporter

  • human T-cell leukemia virus (I and II) receptor

  • receptor for HTLV-1 and HTLV-2

  • solute carrier family 2 (facilitated glucose transporter), member 1

SLC2A1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SLC2A1 P11166 CREB3 Homo sapiens O43889-2 25910212
Intra
SLC2A1 P11166 CREB3 Homo sapiens O43889-2 25910212
Intra
SLC2A1 P11166 CREB3 Homo sapiens O43889-2 25910212
Intra
SLC2A1 P11166 SLC2A1 Homo sapiens P11166
GMS
1429721
Intra
SLC2A1 P11166 SLC2A1 Homo sapiens P11166 1429721
Cross: Cross-species interaction Intra: Intraspecies interaction

SLC2A1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P85845 Glucose Transporter GLUT1 Antibody (YA5537) WB, ICC/IF, ELISA Human, Mouse, Rat
HY-P86013 Glucose 6 Phosphate Dehydrogenase Antibody (YA5705) IHC-P, ICC/IF, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
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

Hemolytic Anemia
  • Anemia, Hemolytic

  • Anemia Hemolytic

  • Anaemia Due To Other Disorders Of Glutathione Metabolism

  • Chronic Non Spherocytic Anaemia

  • G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

  • Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

  • Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

  • Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

  • Favism Anaemia

  • Haemolytic Anaemia Due Tog6pd Deficiency

  • Favism

  • Pentose Phosphate Pathway Disorder Anaemia

  • Anaemia Due To Pentose Phosphate Pathway Defect

Alternating Hemiplegia Of Childhood
  • Alternating Hemiplegia

  • Ahc

  • Alternating Hemiplegia Syndrome

  • Hemiplegia, Alternating, Of Childhood

  • Hemiplegia, Crossed

Hemangioma
  • Hemangiomas

Dystonia 9
  • DYT9

  • Choreoathetosis/Spasticity, Episodic

  • Episodic Choreoathetosis/Spasticity

  • Cse Choreoathetosis, Paroxysmal, With Episodic Ataxia

  • Choreoathetosis, Kinesigenic, With Episodic Ataxia And Spasticity

  • Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity

  • Cse

  • Dystonia-9

  • Kinesigenic Choreoathetosis With Episodic Ataxia And Spasticity

  • Paroxysmal Choreoathetosis With Episodic Ataxia

  • Dystonia, Type 9

Microvascular Complications Of Diabetes 5
  • Diabetic Retinopathy

  • Microvascular Complications Of Diabetes, Susceptibility To, 5

  • MVCD5

  • Retinopathy, Diabetic

  • Diabetic Nephropathy

  • Retinopathy, Diabetic, Susceptibility To

  • Retinal Abnormality - Diabetes-Related

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Spastic Paraplegia 9b, Autosomal Recessive
  • SPG9B

  • Autosomal Recessive Complex Spastic Paraplegia Type 9b

  • Hereditary Spastic Paraplegia 9b

  • Autosomal Recessive Spastic Paraplegia 9b

  • Autosomal Recessive Spastic Paraplegia Type 9b

  • Ar-Spg9b

Rapidly Involuting Congenital Hemangioma
  • Rich

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Hemangioblastoma
  • Capillary Hemangioblastoma

Epilepsy, Myoclonic Juvenile
  • Juvenile Myoclonic Epilepsy

  • Janz Syndrome

  • Jme

  • Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

  • EJM

  • Myoclonic Epilepsy, Juvenile

  • Petit Mal, Impulsive

  • Myoclonic Epilepsy, Juvenile 1

  • Myoclonic Epilepsy, Juvenile, 1

  • Adolescent Myoclonic Epilepsy

  • Juvenile Myoclonus Epilepsy

  • Juvenile Myoclonic Epilepsy 1

  • EJM1

  • Petit Mal Impulsive

  • Susceptibility To Juvenile Myoclonic Epilepsy 1

  • Myoclonic Epilepsy Juvenile

  • Epilepsy, Myoclonic, Juvenile

  • Myoclonic Epilepsy Of Janz

  • Jme - [Juvenile Myoclonic Epilepsy]

Hyperinsulinism
  • Hyperinsulinemia

Hemangioma Of Lung
  • Pulmonary Hemangioma

Papillary Adenocarcinoma
  • Infiltrating And Papillary Adenocarcinoma

  • Infiltrating Papillary Adenocarcinoma

  • Adenocarcinoma Papillary

  • Adenocarcinoma, Papillary

Autosomal Recessive Congenital Ichthyosis
  • Lamellar Ichthyosis

  • Congenital Ichthyosiform Erythroderma

  • Li

  • Congenital Nonbullous Ichthyosiform Erythroderma

  • Arci

  • Congenital Lamellar Ichthyosis

  • Nonbullous Congenital Ichthyosiform Erythroderma

  • Cie

  • Congenital Non-Bullous Ichthyosiform Erythroderma

  • Erythrodermic Ichthyosis

  • Nbcie

  • Ncie

  • Non-Bullous Congenital Ichthyosiform Erythroderma

  • Ichthyosis, Lamellar

  • Non Bullous Congenital Ichthyosiform Erythroderma

  • Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

  • Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

  • Collodion Baby

  • Collodion Baby Syndrome

  • Ichthyoses, Lamellar

  • Nbie

  • Nonbullous Ichthyosiform Erythroderma

  • Classic Lamellar Ichthyosis

  • Ichthyosiform Erythroderma Nonbullous Congenital

  • Ichthyosiform Erythroderma Congenital

  • Ichthyosis, Congenital, Autosomal Recessive

  • Ichthyosiform Erythroderma, Congenital

  • Collodion Fetus

  • Non-Bullous Ichthyosiform Erythroderma

Cystadenoma
  • Cystoma

  • Craniopharyngioma

Myoclonus
Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Obesity , Susceptibility To

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Glucose Transporter Type 1 Deficiency Syndrome
  • Glut1 Deficiency Syndrome

  • Encephalopathy Due To Glut1 Deficiency

  • De Vivo Disease

  • Glut1 Ds

  • G1d

  • Glucose Transport Defect, Blood-Brain Barrier

  • Glucose Transporter Protein Syndrome

  • Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome

  • Spemr

  • Glut-1 Deficiency Syndrome

  • Glut1 Deficiency

  • Gtps

  • Spastic Paraplegia, Epilepsy, And Mental Retardation

Gastric Cancer
  • Stomach Cancer

  • Stomach Carcinoma

  • Gastric 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

Acanthosis Nigricans
  • Keratosis Nigricans

  • An

Hemiplegia
  • Infantile Hemiplegia

  • Postnatal Infantile Hemiplegia

  • Hemiplegia, Infantile

Pyruvate Dehydrogenase E1-Alpha Deficiency
  • Pyruvate Dehydrogenase Deficiency

  • Pyruvate Dehydrogenase Complex Deficiency

  • Pyruvate Decarboxylase Deficiency

  • Pdh Deficiency

  • PDHAD

  • Pyruvate Dehydrogenase Complex Deficiency Disease

  • Ataxia With Lactic Acidosis I

  • Ataxia With Lactic Acidosis 1

  • Pdh

  • Pdhc

  • Ataxia With Lactic Acidosis

  • Ataxia, Intermittent, With Abnormal Pyruvate Metabolism

  • Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency

  • Deficiency Of Pyruvic Dehydrogenase

  • Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency

  • Pdc Deficiency

  • Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency

  • Pdhc Deficiency

  • Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency

  • Ataxia Intermittent With Abnormal Pyruvate Metabolism

  • Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency

  • Pyruvate Dehydrogenase E1 Alpha Deficiency

  • Pdc - [Pyruvate Dehydrogenase Complex] Deficiency

  • Ataxia With Lactic Acidosis 2

Ichthyosis, Congenital, Autosomal Recessive 11
  • Autosomal Recessive Congenital Ichthyosis 11

  • Ichthyosis With Hypotrichosis, Autosomal Recessive

  • Arih

  • Ichthyosis And Follicular Atrophoderma With Hypotrichosis And Hypohidrosis

  • Autosomal Recessive Ichthyosis With Hypotrichosis

  • ARCI11

  • Ifah

  • Hypotrichosis-Congenital Ichthyosis Syndrome

  • Ichthyosis-Follicular Atrophoderma-Hypotrichosis Syndrome

  • Ichthyosis-Follicular Atrophoderma-Hypotrichosis-Hypohidrosis Syndrome

  • Ichthyosis-Hypotrichosis Syndrome

  • Ifah Syndrome

  • Ihs

Episodic Ataxia, Type 8
  • Episodic Ataxia Type 8

  • EA8

  • Episodic Ataxia With Slurred Speech

Paroxysmal Choreoathetosis
  • Paroxysmal Nonkinesigenic Dyskinesia

Epilepsy With Myoclonic Absences
Cardiovascular Organ Benign Neoplasm
Breast Cancer
  • Breast Carcinoma

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Male Breast Cancer

  • 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

Fetal Hemoglobin Quantitative Trait Locus 1
  • Hereditary Persistence Of Fetal Hemoglobin

  • Delta-Beta-Thalassemia

  • Delta-Beta Thalassemia

  • Delta Beta-Thalassemia

  • HBFQTL1

  • Hemoglobin F, Hereditary Persistence Of

  • Hpfh

  • Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related

  • Hemoglobin, Fetal, Quantitative Trait Locus 1

  • Hereditary Persistence Of Fetal Hemoglobin Thalassemia

  • Hpfh - [Hereditary Persistence Of Fetal Haemoglobin]

  • Fetal Haemoglobin

  • Persistence Of Fetal Haemoglobin

  • Persistent Haemoglobin F

Cryohydrocytosis
  • CHC

  • Stomatocytosis, Cold-Sensitive

  • Hereditary Cryohydrocytosis With Normal Stomatin

  • Pseudohyperkalemia Cardiff

Angiokeratoma Circumscriptum
Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Paroxysmal Dystonia
  • Paroxysmal Dyskinesia

  • Pxd - [Paroxysmal Dyskinesia]

Stroke, Ischemic
  • Cerebral Infarction

  • Stroke

  • Ischemic Stroke

  • Cerebrovascular Accident

  • Cerebral Infarction, Susceptibility To

  • Stroke, Ischemic, Susceptibility To

  • Cerebral Infarct

  • Ischemic Stroke, Susceptibility To

  • Stroke, Susceptibility To

  • Cva - Cerebral Infarction

  • ISCHSTR

  • Ischemic Cerebrovascular Accident

Mediastinum Sarcoma
  • Sarcoma Of Mediastinum

Dravet Syndrome
  • Severe Myoclonic Epilepsy Of Infancy

  • Smei

  • Severe Myoclonic Epilepsy In Infancy

  • Epileptic Encephalopathy, Early Infantile, 6

  • DRVT

  • Developmental And Epileptic Encephalopathy 6a

  • Dee6a

  • Eiee6

  • Dee6

  • Developmental And Epileptic Encephalopathy 6

  • Early Infantile Epileptic Encephalopathy 6

  • Myoclonic Epilepsy, Severe, Of Infancy

  • Sme

  • Severe Myoclonus Epilepsy Of Infancy

  • Borderline Smei

  • Smeb

  • Smeb-M

  • Smeb-O

  • Smeb-Sw

  • Smei-Borderland

  • Smei-Borderland More Than One Feature

  • Smei-Borderland-Myoclonic Seizures

  • Smei-Borderland-Spike Wave

  • Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

  • ICEGTC

  • Developmental And Epileptic Encephalopathy, 6

  • Infantile Severe Myoclonic Epilepsy

  • Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Deafness, Autosomal Recessive 2
  • DFNB2

  • Neurosensory Nonsyndromic Recessive Deafness 2

  • Nsrd2

  • Autosomal Recessive Nonsyndromic Deafness 2

  • Deafness, Autosomal Recessive, Type 2

  • Autosomal Recessive Deafness 2

  • Deafness, Autosomal Recessive, 2

  • Deafness Neurosensory Autosomal Recessive 2

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2

  • Deafness, Autosomal Recessive 2, Neurosensory

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of 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

  • Cancer 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

Glut1 Deficiency Syndrome 2
  • Dystonia 18

  • Dyt18

  • Childhood Onset Glut1 Deficiency Syndrome 2

  • GLUT1DS2

  • Ped With Or Without Epilepsy And/Or Hemolytic Anemia

  • Paroxysmal Exertion-Induced Dyskinesia

  • Ped

  • Paroxysmal Exercise-Induced Dystonia

  • Paroxysmal Exercise-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anemia

  • Paroxysmal Exertion-Induced Dystonia With Or Without Epilepsy And/Or Hemolytic Anemia

  • Glut1 Deficiency Syndrome 2, Childhood Onset

  • Dyt-Slc2a1

  • Dystonia-18

  • Paroxysmal Exercise-Induced Dystonia With Or Without Epilepsy And/Or Hemolytic Anemia

  • Paroxysmal Exertion-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anemia

  • Glut1 Deficiency Syndrome, Type 2, Childhood Onset

West Syndrome
  • Infantile Spasms

  • Infantile Spasms Syndrome

  • Infantile Spasm

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Infantile Spasms

  • Epileptic Encephalopathy, Early Infantile, 1

  • Is

  • Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

  • West'S Syndrome

  • Spasms, Infantile

  • Is -[Infantile Spasm]

  • Salaam Spasm

  • Salaam Tic

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Renal Cell Carcinoma, Papillary, 1
  • Papillary Renal Cell Carcinoma

  • Hereditary Papillary Renal Cell Carcinoma

  • Papillary Renal Cell Carcinoma, Sporadic

  • Papillary Renal Cell Adenocarcinoma

  • RCCP

  • RCCP1

  • Renal Cell Carcinoma, Papillary

  • Renal Cell Carcinoma, Papillary, 1, Familial And Somatic

  • Chromophil Carcinoma Of Kidney

  • Papillary Kidney Carcinoma

  • Sporadic Papillary Renal Cell Carcinoma

  • Chromophil Renal Cell Carcinoma

  • Papillary Renal Carcinoma, Malignant -

  • Papillary Renal Cell Carcinoma, Bilateral -

  • Papillary Renal Cell Carcinoma, Familial -

  • Papillary Renal Cell Carcinoma, Multiple -

  • Papillary Renal Cell Carcinoma, Sporadic -

  • Renal Adenocarcinoma

  • Chromophil Rcc

  • Hprcc

  • Renal Cell Carcinoma Papillary

  • Chromophilic Renal Cell Carcinoma

  • Prcc

  • Carcinoma, Renal Cell, Papillary, Type 1

  • Type 1 Papillary Renal Cell Carcinoma

  • Renal Cell Carcinoma

  • Hereditary Papillary Renal Carcinoma

Perineurioma
  • Soft Tissue Perineurioma

Hypopigmentation Of Eyelid
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

Epilepsy, Idiopathic Generalized 12
  • EIG12

  • Epilepsy, Idiopathic Generalized, Susceptibility To, 12

  • Idiopathic Generalized Epilepsy 12

  • Susceptibility To Idiopathic Generalized Epilepsy 12

  • Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 12

Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Renal Pelvis Adenocarcinoma
  • Adenocarcinoma Of Renal Pelvis

  • Adenocarcinoma Of The Kidney Pelvis

Malignant Peripheral Nerve Sheath Tumor
  • Mpnst

  • Malignant Neurilemmoma

  • Neurofibrosarcoma

  • Malignant Neurofibroma

  • Malignant Schwannoma

  • Neurogenic Sarcoma

  • Malignant Neoplasm Of The Peripheral Nerve Sheath

  • Schwannoma, Malignant

  • Malignant Peripheral Nerve Sheath Tumors

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
  • Dehydrated Hereditary Stomatocytosis

  • Hereditary Xerocytosis

  • Xerocytosis, Hereditary

  • Pshk1

  • Pseudohyperkalemia Edinburgh

  • Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema

  • DHS1

  • Dhs

  • Hereditary Desiccytosis

  • Dehydrated Hereditary Stomatocytosis 1

  • Desiccytosis, Hereditary

  • Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak

  • Pseudohyperkalemia Familial 1, Due To Red Cell Leak

  • Desiccytosis Hereditary

  • Xerocytosis Hereditary

  • Familial Pseudohyperkalemia 1 Due To Red Cell Leak

  • Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema

  • Xerocytosis

Early Myoclonic Encephalopathy
  • Myoclonic Epilepsy

  • Myoclonic Seizure

  • Epilepsies, Myoclonic

  • Epileptic Seizures - Myoclonic

  • Epileptic Seizures, Myoclonic

  • Myoclonia Epileptica

  • Myoclonic Seizure Disorder

  • Early Myoclonic Encephalopathy With Suppression-Bursts

Hypoascorbemia
  • Scurvy

  • Ascorbic Acid Deficiency

  • Vitamin C Deficiency

  • Vitamin C, Inability To Synthesize

  • Deficiency Of Vitamin C

  • Scorbutus

  • Vitamin C

Diabetes Mellitus
  • Diabetes

Pyogenic Granuloma
  • Lobular Capillary Hemangioma

  • Granuloma Pyogenic

  • Granuloma Pyogenicum

  • Granuloma Telangiectaticum Of Skin

  • Pyogenic Granuloma Of Skin

  • Lobular Capillary Haemangioma Of Skin

Epilepsy, Idiopathic Generalized
  • Idiopathic Generalized Epilepsy

  • Generalised Epilepsy

  • Epilepsy, Generalized

  • EIG

  • Ige

  • Epilepsy, Idiopathic Generalized, Susceptibility To, 1

  • Epilepsy, Idiopathic Generalized 1

  • Epilepsy, Idiopathic Generalized, Susceptibility To

  • Epilepsy, Idiopathic, Generalized

  • Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Meningioma, Familial
  • Meningioma

  • Familial Meningioma

  • Meningioma, Familial, Susceptibility To

  • Meningeal Neoplasm

  • Meningeal Neoplasms

  • Meningiomas

  • Meningioma, Nf2-Related, Somatic

  • Meningioma, Sis-Related

  • Meningothelial Cell Tumor

  • Neoplasm Of The Meninges

  • Primary Meningeal Tumor

  • Familial Multiple Meningioma

  • MNGMA

  • Meningioma, Benign, No Icd-O Subtype

  • Intracranial Meningioma

  • Meningothelial Cell Neoplasm

  • Supratentorial Meningioma

  • Primary Neoplasm Of Spinal Meninges

  • Benign Intracranial Meningioma

  • Benign Meningioma

  • Meningeal Tumours

  • Meningeal Sarcoma Of Unspecified Site

  • Meningothelial Sarcoma Of Unspecified Site

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Diabetes Mellitus, Non-Insulin-Dependent

  • Type 2 Diabetes

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

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

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Renal Glucosuria
  • Renal Glycosuria

  • Familial Renal Glucosuria

  • Glycosuria, Renal

  • GLYS

  • Glys1

  • Glucosuria, Renal

  • Renal Diabetes

  • Familial Renal Glycosuria

  • Sglt2 Deficiency

  • Gly

  • Diabetes Renal

Epilepsy, Pyridoxine-Dependent
  • Pyridoxine-Dependent Epilepsy

  • PDE

  • Pyridoxine Dependency With Seizures

  • Vitamin B6-Dependent Seizures

  • EPD

  • Aasa Dehydrogenase Deficiency

  • Antiquitin Deficiency

  • Pyridoxine Dependency

  • Glutamate Decarboxylase Deficiency

  • Pyridoxine-Dependent Seizures

  • Deficiency Of Glutamate Decarboxylase

Capillary Disease
  • Disease Of Capillaries

Maturity-Onset Diabetes Of The Young
  • MODY

  • Maturity Onset Diabetes Mellitus In Young

  • Mason-Type Diabetes

  • Mason Type Diabetes

  • Maturity Onset Diabetes Of The Young

  • Mody Syndrome

  • Diabetes Of The Young, Maturity-Onset

Hypoglycemia
  • Hypoglycaemia

  • Low Blood Sugar

  • Hypoglycaemia Nos

  • Spontaneous Hypoglycaemia

  • Nondiabetic Hypoglycaemia

  • Hypoglycaemic Disorder Nos

  • Hypoglycaemic Syndrome

Necrobiosis Lipoidica
  • Oppenheim-Urbach Disease

  • Necrobiosis Lipoidica Diabeticorum

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Carcinoma Of Pancreas

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm 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

  • Cancer Of The Pancreas

  • 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

Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
  • Hereditary Cryohydrocytosis With Reduced Stomatin

  • SDCHCN

  • Glut1 Deficiency Syndrome With Pseudohyperkalemia And Hemolysis

  • Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly

  • Chc Type 2

  • Hereditary Cryohydrocytosis Type 2

  • Stomatin-Deficient Cryohydrocytosis

  • Sdchc

  • Cryohydrocytosis, Stomatin-Deficient, With Neurologic Defects

Benign Familial Infantile Epilepsy
  • Benign Familial Infantile Seizures

  • Bfie

  • Benign Familial Infantile Convulsion

  • Bfic

  • Bfis

  • Benign Familial Infantile Convulsions

  • Familial Benign Neonatal Epilepsy

  • Watanabe-Vigevano Syndrome

Fat Necrosis Of Breast
  • Breast Fat Necrosis

  • Aseptic Fat Necrosis Of Breast

  • Breast Necrosis Nos

Early Onset Absence Epilepsy
Skin Hemangioma
  • Angioma Of The Skin

  • Angiomatous Naevus Of Skin

  • Hemangioma Of Skin

Movement Disease
  • Movement Disorders

  • Movement Disorder

Migraine With Aura
  • Classic Migraine

  • Migraine With Typical Aura

  • Migraine Accompagnée

  • Complicated Migraine

  • Classical Migraine

  • Acute Migraine With Aura

Spasticity
Hyperglycemia
Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Protection Against

  • Lung Cancer, Susceptibility To

  • Adenocarcinoma Of Lung, Somatic

  • Nonsmall Cell Lung Cancer

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • 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

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Capillary Hemangioma
  • Strawberry Nevus Of Skin

  • Cellular Hemangioma Of Infancy

  • Congenital Vascular Hamartoma

  • Congenital Vascular Naevus

  • Infantile Hemangioma

  • Juvenile Hemangioma

  • Strawberry Haemangioma

  • Strawberry Nevus

  • Hemangioma Capillary

  • Hemangioma, Capillary

  • Hemangioma, Cavernous

Pacinian Tumor
  • Pacinian Neurofibroma

Choreatic Disease
  • Chorea

  • Hereditary Chorea

Arteriovenous Malformation
  • Arteriovenous Malformations

  • Arteriovenous Hemangioma

  • Cirsoid Aneurysm

  • Racemose Aneurysm

  • Racemose Angioma

  • Racemose Hemangioma

  • Congenital Arteriovenous Malformation

Dystonia, Dopa-Responsive
  • Dystonia 5

  • Dopa-Responsive Dystonia

  • DRD

  • Dyt5

  • Dystonia-Parkinsonism With Diurnal Fluctuation

  • Dyt-Th

  • Hpd With Diurnal Fluctuation

  • Hereditary Progressive Dystonia With Diurnal Fluctuation

  • Dystonia, Progressive, With Diurnal Variation

  • Segawa Syndrome, Autosomal Dominant

  • Dystonia, Dopa-Responsive, Autosomal Dominant

  • Dopa-Responsive Dystonia, Autosomal Dominant

  • Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia

  • Dyt-Gch1

  • Dyt-Spr

  • Dystonia 5, Dopa-Responsive Type

  • Hereditary Progressive Dystonia With Marked Diurnal Fluctuation

  • Autosomal Dominant Dopa-Responsive Dystonia

  • Autosomal Dominant Segawa Syndrome

  • Dystonia-5

  • Progressive Dystonia With Diurnal Fluctuation

  • Dystonia, Type 5, Dopa-Responsive Type

Glycine Encephalopathy
  • Non-Ketotic Hyperglycinemia

  • Nonketotic Hyperglycinemia

  • NKH

  • GCE

  • Hyperglycinemia, Nonketotic

  • Hyperglycinemia Nonketotic

  • Infantile Glycine Encephalopathy

  • Encephalopathy, Glycine

  • Glycine Synthase Deficiency

  • Nka

  • Neonatal Glycine Encephalopathy

  • Classic Glycine Encephalopathy

  • Neonatal Nkh

  • Neonatal Non-Ketotic Hyperglycinemia

  • Infantile Nkh

  • Infantile Non-Ketotic Hyperglycinemia

  • Non-Ketotic Hyperglycinaemia

  • Glycine Cleavage Deficiency

  • Nonketotic Hyperglycinaemia

Tuberous Sclerosis
  • Tuberous Sclerosis Syndrome

  • Bourneville'S Disease

  • Epiloia

  • Cerebral Sclerosis

  • Tuberose Sclerosis

  • Tuberous Sclerosis 1

  • Bourneville Disease

  • Bourneville Phakomatosis

  • Pringle'S Disease

Angiokeratoma
  • Angiokeratoma Of Skin

  • Cutaneous Angiokeratoma

  • Skin Angiokeratoma

Strabismus
  • Strabismus, Susceptibility To

  • Strabismus, Susceptibility To, 1

  • Strabismus 1

Glut1 Deficiency Syndrome 1
  • GLUT1DS1

  • Glucose Transport Defect, Blood-Brain Barrier

  • Encephalopathy Due To Glut1 Deficiency

  • Glut1 Deficiency Syndrome 1, Infantile Onset, Severe

  • Classic Glucose Transporter Type 1 Deficiency Syndrome

  • Classic Glut1 Deficiency Syndrome

  • Classic Glut1-Ds

  • De Vivo Disease

  • Blood-Brain Barrier Glucose Transport Defect

  • Glut1 Deficiency

  • Glut-1 Deficiency Syndrome

  • Glut1 Deficiency Syndrome Autosomal Recessive

  • Glut1 Deficiency Syndrome, Type 1, Infantile Onset, Severe

  • Glut1 Deficiency Syndrome

Metagonimiasis
  • Trematode Infections

  • Infection By Metagonimus Yokogawai

  • Metagonimus Yokogawai Infection

Early Infantile Epileptic Encephalopathy
  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile

Gestational Diabetes
  • Gestational Diabetes Mellitus

  • GDM

  • Diabetes Mellitus Arising In Pregnancy

  • Maternal Gestational Diabetes Mellitus

  • Diabetes Mellitus, Gestational

  • Diabetes Mellitus, Pregnancy Related

  • Diabetes, Pregnancy-Induced

  • Diabetes Gestational

  • Diabetes, Gestational

  • Diabetes Of Pregnancy

  • Gdm - [Gestational Diabetes Mellitus]

  • Gestational Diabetes Mellitus Nos

  • Gestational Diabetes Complicating Pregnancy, Childbirth, Or The Puerperium

Epilepsy With Myoclonic-Atonic Seizures
  • Doose Syndrome

  • Epilepsy With Myoclonic-Astatic Seizures

  • Myoclonic Astatic Epilepsy

  • Epilepsy With Myoclono-Astatic Crisis

  • Myoclonic-Astatic Epilepsy

  • Emas

  • Mae

  • Myoclonic Atonic Epilepsy

  • Myoclonic-Astatic Epilepsy In Early Childhood

Developmental And Epileptic Encephalopathy
  • Encephalopathy, Developmental And Epileptic

Intraneural Perineurioma
Childhood Electroclinical Syndrome
Benign Epilepsy With Centrotemporal Spikes
  • Benign Rolandic Epilepsy

  • Rolandic Epilepsy

  • Epilepsy, Rolandic

  • Bcects

  • Benign Childhood Epilepsy With Centrotemporal Spike

  • Sylvan Seizures

  • Becrs

  • Bects

  • Bre

  • Benign Epilepsy Of Childhood With Centrotemporal Spikes

  • Benign Familial Epilepsy Of Childhood With Rolandic Spikes

  • Centrotemporal Epilepsy

Cavernous Hemangioma
  • Hemangioma, Cavernous

  • Cavernoma

  • Cavernous Haemangioma

Lennox-Gastaut Syndrome
  • Epileptic Encephalopathy Lennox-Gastaut Type

  • Lennox Syndrome

  • Encephalopathy Of Childhood

  • Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

  • Lgs

T-Cell Acute Lymphoblastic Leukemia
  • T-Cell Leukemia

  • Acute T Cell Leukemia

  • Precursor T Lymphoblastic Leukemia

  • Precursor T-Lymphoblastic Lymphoma/Leukemia

  • T Acute Lymphoblastic Leukemia

  • T-Cell Acute Lymphocytic Leukaemia

  • T-Cell Lymphoblastic Leukemia/Lymphoma

  • Leukemia T-Cell

  • Leukemia, T-Cell

  • Leukemia, Acute, Lymphoblastic, T-Cell

  • Leukemia, T-Cell Acute Lymphoblastic

  • Leukemia, Acute T-Cell

  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

  • Precursor T-Cell Lymphoblastic Lymphoma

  • Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Childhood Absence Epilepsy
  • Pyknolepsy

  • Petit Mal Epilepsy

  • Absence Seizures

  • Absence Seizure

  • Petit Mal Seizure

  • Absence Epilepsy, Childhood

  • Pykno-Epilepsy

  • Epilepsy, Absence

  • Absence Epilepsy

  • Pycnolepsy

Aceruloplasminemia
  • Cerebellar Ataxia

  • Hypoceruloplasminemia

  • Hemosiderosis, Systemic, Due To Aceruloplasminemia

  • Familial Apoceruloplasmin Deficiency

  • Hereditary Ceruloplasmin Deficiency

  • Deficiency Of Ferroxidase

  • Hypoceruloplasminemia, Hereditary

  • Ceruloplasmin Deficiency

  • Systemic Hemosiderosis Due To Aceruloplasminemia

  • ACERULOP

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
Rattus norvegicus SLC2A1 RGD RGD:3704
Bos taurus SLC2A1 VGNC VGNC:34796
Canis familiaris SLC2A1 VGNC VGNC:46337
Mus musculus SLC2A1 MGD MGI:95755
Felis catus SLC2A1 VGNC VGNC:65299
Macaca mulatta SLC2A1 VGNC VGNC:77447
Others SLC2A1 NCBI