MAF - MAF bZIP transcription factor Gene

Also Known as CCA4; AYGRP; c-MAF; CTRCT21

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4094

About MAF

Cytogenetic location: 16q23.2 Genomic coordinates (GRCh38): 16:79,202,622-79,600,737 (from NCBI)

This gene has 3 transcripts (splice variants), 251 orthologues, 6 paralogues and is associated with 69 phenotypes. Ubiquitous expression in kidney (RPKM 1.3), endometrium (RPKM 0.9) and 24 other tissues.

Summary

The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to Apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

MAF Products (2)

mRNA Protein Name
NM_001031804.3 NP_001026974.1 transcription factor Maf isoform b
NM_005360.5 NP_005351.2 transcription factor Maf isoform a
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
20102225 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20102225 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence References Source
involved in megakaryocyte differentiation IMP
IMP: Inferred from mutant phenotype
25857263 GOA
Cellular Component GO Annotation Evidence References Source
part of RNA polymerase II transcription regulator complex IPI
IPI: Inferred from physical interaction
20102225 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

MAF Protein Structure

Maf_N

Maf_N: Maf N-terminal region (86 - 120)

bZIP_Maf

bZIP_Maf: bZIP Maf transcription factor (261 - 351)

  • 0
  • 100
  • 200
  • 300
  • 373 a.a.
Protein Preferred Names Protein Names

transcription factor Maf

  • Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene

MAF Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MAF O75444 BACH1 Homo sapiens O14867 20102225
Intra
MAF O75444 MAF Homo sapiens O75444 23661758
Intra
MAF O75444 ATF4 Homo sapiens P18848 20102225
Intra
MAF O75444 MAFB Homo sapiens Q9Y5Q3 23661758
Intra
MAF O75444 AHR Homo sapiens P35869 20676095
Intra
MAF O75444 FOSL1 Homo sapiens P15407 23661758
Intra
MAF O75444 ATF4 Homo sapiens P18848 23661758
Intra
MAF O75444 MAFB Homo sapiens Q9Y5Q3 20102225
Intra
MAF O75444 MAF Homo sapiens O75444 20102225
Intra
MAF O75444 HBZ Human T-cell leukemia virus 1 P0C746 20102225
Cross: Cross-species interaction Intra: Intraspecies interaction

MAF Antibodies

Cat. No. Product Name Application Reactivity
HY-P81433 c-Maf Antibody (YA1178) IHC-P Human
HY-P81433A c-Maf Antibody (YA1178)(PBS only) IHC-P Human

Related Diseases

Diseases Alias
Ayme-Gripp Syndrome
  • AYGRP

  • Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation

  • Aymé-Gripp Syndrome

  • Fine-Lubinsky Syndrome

  • Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome

  • Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome

Cataract 21, Multiple Types
  • Cataract 21 Multiple Types

  • CTRCT21

  • Cca4

  • Cataract 21, Multiple Types, With Or Without Microcornea

  • Cataract, Pulverulent, Juvenile-Onset

  • Congenital Cataract Cerulean Type 4

  • Cataract, Congenital, Cerulean Type, 4

  • Cataract 21 Multiple Types With Or Without Microcornea

  • Cataract, Pulverulent Or Cerulean, With Or Without Microcornea

  • Cataract Pulverulent Juvenile-Onset

  • Congenital Cataract Blue Dot Type 4

  • Cataract, Type 21, Multiple Types

Developmental And Epileptic Encephalopathy 28
  • DEE28

  • Epileptic Encephalopathy, Early Infantile, 28

  • Eiee28

  • Developmental And Epileptic Encephalopathy, 28

  • Early Infantile Epileptic Encephalopathy 28

  • Encephalopathy, Epileptic, Early Infantile, Type 28

Spinocerebellar Ataxia, Autosomal Recessive 12
  • Autosomal Recessive Spinocerebellar Ataxia 12

  • SCAR12

  • Spinocerebellar Ataxia With Mental Retardation And Epilepsy

  • Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency

  • Autosomal Recessive Spinocerebellar Ataxia Type 12

  • Spinocerebellar Ataxia, Autosomal Recessive, 12

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 12

Cataract 7
  • Cca1

  • CTRCT7

  • Cerulean Cataract

  • Cataract 7, Cerulean Type

  • Cataract, Congenital, Cerulean Type, 1

  • Cerulean Type Cataract 7

  • Congenital Cerulean Type Cataract 1

  • Cataract, Congenital, Blue Dot Type 1

  • Cataract, Congenital, Cerulean Type 1

  • Blue-Dot Cataract

Developmental And Epileptic Encephalopathy 1
  • Epileptic Encephalopathy, Early Infantile, 1

  • Infantile Epileptic-Dyskinetic Encephalopathy

  • DEE1

  • Eiee1

  • Issx1

  • Xmesid

  • X-Linked Infantile Spasm Syndrome 1

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

  • Developmental And Epileptic Encephalopathy, 1

  • Infantile Epileptic Dyskinetic Encephalopathy

  • Infantile Spasm Syndrome, X-Linked 1

  • West Syndrome, X-Linked

  • Ohtahara Syndrome, X-Linked

  • Early Infantile Epileptic Encephalopathy 1

  • Early Infantile Epileptic Encephalopathy-1

  • Issx

  • X-Linked Ohtahara Syndrome

  • X-Linked West Syndrome

  • Infantile Spasm Syndrome X-Linked 1

  • Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

  • Ohtahara Syndrome X-Linked

  • West Syndrome X-Linked

  • Encephalopathy, Epileptic, Early Infantile, Type 1

Cataract Microcornea Syndrome
  • Microcornea Cataract Syndrome

  • Cataract-Microcornea Syndrome

Cataract 30, Multiple Types
  • CTRCT30

  • Cataract 30, Pulverulent

  • Pulverulent Cataract

  • Coppock-Like Cataract

  • Dusty Cataract

  • Pulverulent Cataract 30

  • Cataract 30

  • Cataract, Pulverulent

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

Benign Epilepsy With Centrotemporal Spikes
  • Rolandic Epilepsy

  • Benign 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

Fibrosarcoma
  • Neoplasms, Fibrous Tissue

  • Fibrocytic Tumor

  • Fibrosarcoma Of Soft Tissue

  • Fibrous Tissue Neoplasm

Plasma Cell Leukemia
  • Plasma Cell Leukaemia

  • Leukemia, Plasma Cell

  • Plasmacytic Leukaemia

  • Plasmacytic Leukemia

  • Pcl

  • Plasma Cell Leukaemia, Nos

  • Leukemic Plasma Cell

  • Plasma Cell Leukaemia Without Mention Of Remission

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Nephrogenic Adenofibroma
  • Metanephric Adenofibroma

Erythroleukemia
Slate Pneumoconiosis
  • Schistosis

Multicentric Carpotarsal Osteolysis Syndrome
  • Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy

  • MCTO

  • Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy

  • Idiopathic Multicentric Osteolysis With Or Without Nephropathy

  • Autosomal Dominant Multicentric Osteolysis

  • Hereditary Osteolysis Of Carpal Bones With Or Without Nephropathy

  • Multicentric Osteolysis, Autosomal Dominant

  • Multicentric Osteolysis Nephropathy

  • Osteolysis, Carpotarsal, Multicentric Syndrome

  • Lytic Lesion

Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
  • Multiple Epiphyseal Dysplasia, Beighton Type

  • EDMMD

  • Epiphyseal Dysplasia, Multiple, With Myopia And Deafness

  • Multiple Epiphyseal Dysplasia With Myopia And Deafness

  • Multiple Epiphyseal Dysplasia-Myopia-Deafness Syndrome

  • Multiple Epiphyseal Dysplasia-Myopia-Hearing Loss Syndrome

  • Multiple Epiphyseal Dysplasia With Myopia And Conductive Deafness

  • Dysplasia, Epiphyseal, Multiple, With Myopia And Deafness

Monoclonal Gammopathy Of Uncertain Significance
  • Monoclonal Gammopathy Of Undetermined Significance

  • Mgus

  • Mgus - [Monoclonal Gammopathy Of Undetermined Significance]

  • Monoclonal Gammopathy Nos

  • Iga Gammopathy

  • Monoclonal Gammoglobulinopathy

Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
  • SRTD13

Non-Syndromic X-Linked Intellectual Disability Arx-Related
  • Arx-Related Intellectual Disability

  • Mrxarx

  • X-Linked Mental Retardation 29

  • X-Linked Mental Retardation 29 And Others

  • X-Linked Mental Retardation 32

  • X-Linked Mental Retardation 33

  • X-Linked Mental Retardation 38

  • X-Linked Mental Retardation 43

  • X-Linked Mental Retardation 76

  • X-Linked Mental Retardation 87

  • X-Linked Mental Retardation With Or Without Seizures Arx-Related

  • Mental Retardation, X-Linked, Type 29 And Others

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2
  • Ibmpfd2

  • Msp2

  • Multisystem Proteinopathy 2

Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
  • Combined Oxidative Phosphorylation Deficiency 26

  • COXPD26

  • Combined Oxidative Phosphorylation Defect Type 26

  • PNSED

  • Oxidative Phosphorylation Deficiency, Combined, Type 26

Blood Protein Disease
  • Blood Protein Disorders

  • Blood Protein Disorder

Myopia
  • Near-Sightedness

  • Short-Sightedness

  • Nearsightedness

  • Nearsighted

  • Near Vision

  • Close Sighted

  • Myopic

  • Short-Sighted

  • Near Sighted

Smoldering Myeloma
Schindler Disease, Type I
  • Schindler Disease Type 1

  • Alpha-N-Acetylgalactosaminidase Deficiency Type 1

  • Schindler Disease Type 3

  • Alpha-N-Acetylgalactosaminidase Deficiency Type 3

  • Naga Deficiency Type 3

  • Neuroaxonal Dystrophy, Schindler Type

  • Naga Deficiency Type 1

  • Alpha-N-Acetylgalactosaminidase Deficiency, Type I

  • Naga Deficiency, Type I

  • Schindler Disease, Type Iii

  • N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii

  • Alpha-N-Acetylgalactosaminidase Deficiency, Type 1

  • Naga Deficiency, Type 1

  • Schindler Disease Type I

  • Schindler Disease

  • SCHIND

  • Schindler Disease, Type 3

  • Schindler Disease, Type 1

Pfeiffer Syndrome
  • Infectious Mononucleosis

  • Acs5

  • Craniofacial-Skeletal-Dermatologic Dysplasia

  • Acs V

  • Noack Syndrome

  • Gammaherpesviral Mononucleosis

  • Acrocephalosyndactyly Type 5

  • Pfeiffer Syndrome Type 3

  • Acrocephalosyndactyly, Type V

  • Glandular Fever

  • Pfeiffer Type Acrocephalosyndactyly

  • Pfeiffer Syndrome Type 2

  • Acrocephalosyndactylia Type V

  • Filatov'S Disease

  • Monocytic Angina

  • Mononucleosis

  • Pfeiffer'S Disease

  • Acsv

  • Acrocephalosyndactyly, Type 5

  • Craniofacial-Skeletal-Dermatologic Syndrome

  • Pfeiffer Syndrome Type 1

  • Classic Pfeiffer Syndrome

  • PS

  • Pfeiffer Syndrome Variant

  • Dysplasia, Craniofacial-Skeletal-Dermatologic

  • Pfeiffer

  • Kissing Disease

  • Infectious Adenitis

  • Pfeiffer Disease

Myasthenic Syndrome, Congenital, 3a, Slow-Channel
  • Congenital Myasthenic Syndrome 3a

  • CMS3A

  • Congenital Myasthenic Syndrome 3a, Slow-Channel

  • Myasthenic Syndrome, Congenital, Type 3a, Slow-Channel

Idiopathic Peripheral Autonomic Neuropathy
Anterior Segment Dysgenesis
  • Anterior Segment Developmental Anomaly

  • Anterior Segment Mesenchymal Dysgenesis

  • Corneal Opacification And Other Ocular Anomalies

  • Sclerocornea With Other Ocular Anomalies

  • Asmd

  • Asod

  • Anterior Segment Ocular Dysgenesis

  • Foxe3-Related Ocular Disorder

  • Familial Ocular Anterior Segment Mesenchymal Dysgenesis

  • Dysgenesis, Anterior Segment

  • Irido-Corneal Dysgenesis

  • Axenfeld-Rieger Syndrome, Type 3

Inflammatory Bowel Disease
  • Inflammatory Bowel Diseases

  • Bowel Disease, Inflammatory

Ciliary Dyskinesia, Primary, 43
  • CILD43

  • Primary Ciliary Dyskinesia 43

  • Ciliary Dyskinesia, Primary, 43, With Or Without Situs Inversus

  • Primary Ciliary Dyskinesia 43 With Or Without Situs Inversus

  • Ciliary Dyskinesia, Primary, 43 With Or Without Situs Inversus

Arthrogryposis, Distal, Type 2b3
  • DA2B3

  • Distal Arthrogryposis Type 2b3

  • Arthrogryposis, Distal, 2b3

Corneal Dystrophy, Posterior Polymorphous, 4
  • PPCD4

  • Posterior Polymorphous Corneal Dystrophy 4

Spinocerebellar Ataxia 44
  • SCA44

Larsen-Like Syndrome B3gat3 Type
  • Larsen-Like Syndrome, B3gat3 Type

  • Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome

  • Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects

  • Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects

Deafness, Autosomal Dominant 4a
  • Deafness, Autosomal Dominant 4

  • DFNA4A

  • Dfna4

  • Autosomal Dominant Nonsyndromic Deafness 4a

  • Autosomal Dominant Deafness 4a

  • Deafness, Autosomal Dominant, 4a

  • Deafness Autosomal Dominant 4

  • Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4

  • Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4

  • Deafness, Autosomal Dominant, Type 4a

Immunodeficiency 58
  • IMD58

  • Severe Combined Immunodeficiency Due To Carmil2 Deficiency

  • Combined Immunodeficiency Due To Carmil2 Deficiency

  • Combined Immunodeficiency Due To Rltpr Deficiency

Ciliary Dyskinesia, Primary, 4
  • Primary Ciliary Dyskinesia 4

  • CILD4

  • Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus

  • Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus

  • Primary Ciliary Dyskinesia, 4

Ciliary Dyskinesia, Primary, 8
  • Primary Ciliary Dyskinesia 8

  • CILD8

  • Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus

  • Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus

Aniridia 1
  • Aniridia

  • Congenital Aniridia

  • AN1

  • An

  • Cataract With Late-Onset Corneal Dystrophy

  • Aplasia Of Iris

  • Absent Iris

  • Irideremia

  • Aniridia Ii, Formerly

  • An2, Formerly

  • An2

  • Aniridia Type Ii

  • Aniridia, Type 1

  • An-1

  • Absence Of Iris

  • Agenesis Of Iris

  • Congenital Absence Of Iris

  • Hereditary Aniridia

  • Sporadic Aniridia

Hereditary Spastic Paraplegia 51
  • Autosomal Dominant Spastic Paraplegia 51

  • Cpsq4

  • Spastic Quadriplegic Cerebral Palsy 4

  • Spg51

  • Spastic Paraplegia 51, Autosomal Recessive

Coloboma Of Macula
  • Coloboma

  • Congenital Ocular Coloboma

  • Microphthalmia, Isolated, With Coloboma

  • Agenesis Of Macula

  • Hereditary Macular Coloboma

  • Ocular Coloboma

  • Coloboma Of Eye

  • Macular Coloboma

  • Uveoretinal Coloboma

Chromophobe Renal Cell Carcinoma
  • Chromophobe Adenocarcinoma

  • Chromophobe Carcinoma Of Kidney

  • Kidney Chromophobe

  • Renal Cell Carcinoma, Chromophobe Cell

  • Crcc

  • Chrcc

  • Chromophobe Renal Cell Adenocarcinoma

  • Chromophobe Renal Carcinoma

  • Chromophobe Carcinoma

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

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

Attention Deficit-Hyperactivity Disorder
  • Attention Deficit Hyperactivity Disorder

  • ADHD

  • Attention Deficit Disorder

  • Attention Deficit-Hyperactivity Disorder, Susceptibility To

  • Attention Deficit Disorder With Hyperactivity

  • Hyperkinetic Disorder

  • Hyperactivity Of Childhood

  • Attention-Deficit/Hyperactivity Disorder

  • Add

  • Addh

  • Attention Deficit

  • Attention Deficit Disorder Of Childhood With Hyperactivity

  • Attention Deficit Disorder With Hyperactivity Syndrome

  • Hyperkinetic Syndrome

  • Attention-Deficit Hyperactivity Disorder

  • Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

  • Disturbance Of Activity And Attention

  • Disorder Of Activity And Attention

  • Adhd - [Attention Deficit Hyperactivity Disorder]

  • Hyperkinetic Disorders

  • Disorder Of Activity And Attention With Hyperkinesia

  • Attention Deficit Syndrome With Hyperactivity

Celiac Disease 1
  • Celiac Disease

  • Coeliac Disease

  • Celiac Sprue

  • Celiac Disease, Susceptibility To

  • Gluten-Sensitive Enteropathy

  • Nontropical Sprue

  • Sprue

  • CELIAC1

  • Celiac Disease, Susceptibility To, 1

  • Celiac Sprue 1

  • Celiac Sprue, Susceptibility To, 1

  • Gluten-Sensitive Enteropathy 1

  • Gluten-Sensitive Enteropathy, Susceptibility To, 1

  • Idiopathic Steatorrhea

  • Cœliac Disease

  • Gluten Intolerance

  • Gluten-Induced Enteropathy

  • Gluten Enteropathy

  • Celiac Disease, Susceptibility To, Type 1

  • Childhood Celiac Disease

  • Coeliac Rickets

  • Gee Disease

  • Gee-Herter Disease

  • Heubner-Herter Disease

  • Idiopathic Steatorrhoea

  • Thaysen'S Disease

  • Herter Gee Syndrome

Hereditary Breast Ovarian Cancer Syndrome
  • Hereditary Breast And Ovarian Cancer Syndrome

  • Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

  • Breast And/Or Ovarian Cancer

  • Breast And Ovarian Cancer Syndrome

  • Hboc Syndrome

  • Hereditary Breast And Ovarian Cancer

  • Brca1- Brca2-Associated Hboc

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

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

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

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
Macaca mulatta MAF VGNC VGNC:99522
Mus musculus MAF MGD MGI:96909
Bos taurus MAF VGNC VGNC:57051
Rattus norvegicus MAF RGD RGD:3034
Others MAF NCBI