1. Gene
  2. DES - desmin Gene

DES - desmin Gene

Homo sapiens

Also known as CSM1; CSM2; CDCD3; LGMD1D; LGMD1E; LGMD2R

Gene ID: 1674 | Gene type: protein coding

About DES

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,418,377-219,426,734 (from NCBI)

This gene has 5 transcripts (splice variants), 276 orthologues, 68 paralogues and is associated with 8 phenotypes. Biased expression in heart (RPKM 2605.8), esophagus (RPKM 953.7) and 6 other tissues.

Summary

This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]

DES Products(7)

mRNA Protein Name
NM_001382708.1 NP_001369637.1 desmin isoform 2
NM_001382709.1 NP_001369638.1 desmin isoform 3
NM_001382710.1 NP_001369639.1 desmin isoform 4
NM_001382711.1 NP_001369640.1 desmin isoform 5
NM_001382712.1 NP_001369641.1 desmin isoform 6
NM_001382713.1 NP_001369642.1 desmin isoform 7
NM_001927.4 NP_001918.3 desmin isoform 1

DES Protein Structure

Filament_head

Filament_head: Intermediate filament head (DNA binding) region (9 - 106)

Filament

Filament: Intermediate filament protein (107 - 415)

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

desmin

cardiomyopathy, dilated 1F (autosomal dominant)

Recombinant DES Proteins

Cat. No. Product Name Accession Purity
HY-P70006 Desmin/DES Protein, Human (His) P17661 (V261-L470) ≥95%

Related Diseases

Diseases Alias
Myopathy, Myofibrillar, 1

Desmin-Related Myofibrillar Myopathy

Desmin-Related Myopathy

MFM1

Myopathy, Myofibrillar, Desmin-Related

Drm

Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

Myofibrillar Myopathy 1

Desminopathy

Muscular Dystrophy, Limb-Girdle, Type 2r

Arrhythmogenic Right Ventricular Dysplasia, Familial, 7

Desminopathy, Primary

Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly

Arvd7, Formerly

Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly

Arvc7, Formerly

Inclusion Body Myopathy 1, Autosomal Dominant, Formerly

Ibm1, Formerly

Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly

Cmd1f And Lgmd1d, Formerly

Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy

Cdcd3, Formerly

Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly

Lgmd2r, Formerly

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

Arrhythmogenic Right Ventricular Cardiomyopathy 7

Arvc7

Arvd7

Autosomal Dominant Inclusion Body Myopathy 1

Cdcd3

Cmd1f And Lgmd1d

Desminopathy Primary

Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d

Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy

Familial Arrhythmogenic Right Ventricular Dysplasia 7

Lgmd2r

Limb-Girdle Muscular Dystrophy 2r

Mfm Desmin-Related

Myopathy Myofibrillar Desmin-Related

Dystrophy, Muscular, Limb-Girdle, Type 2r

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

KAESER SYNDROME

Stark-Kaeser Syndrome

Neurogenic Scapuloperoneal Syndrome Kaeser Type

Neurogenic Scapuloperoneal Syndrome, Kaeser Type

Scapuloperoneal Syndrome, Neurogenic Type, Of Kaeser

SCPNK

Scapuloperoneal Syndrome Type Kaeser

Cardiomyopathy, Dilated, 1i

CMD1I

Dilated Cardiomyopathy 1i

Cardiomyopathy, Dilated 1i

Cardiomyopathy, Dilated, Type 1i

Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]

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

Cardiomyopathy, Dilated, 1e

Left Ventricular Noncompaction 9

Left Ventricular Noncompaction 5

Dilated Cardiomyopathy 1e

Dilated Cardiomyopathy 1s

CMD1E

Cdcd2

Cardiomyopathy, Dilated, 1y

CMD1Y

Cardiomyopathy, Dilated, 1s

CMD1S

Dilated Cardiomyopathy 1y

Dilated Cardiomyopathy With Conduction Defect 2

Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia

Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia

Cardiomyopathy, Dilated, With Conduction Defect 2

Cardiomyopathy Dilated With Conduction Defect Type 2

Cardiomyopathy, Dilated 1e

Cardiomyopathy, Dilated 1s

Cardiomyopathy, Dilated 1y

Left Ventricular Non-Compaction 5

LVNC5

Left Ventricular Non-Compaction 9

LVNC9

Cardiomyopathy, Dilated, Type 1e

Cardiomyopathy, Dilated, Type 1s

Cardiomyopathy, Dilated, Type 1y

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Progressive Familial Heart Block

Hereditary Bundle Branch Defect

Hereditary Bundle Branch System Defect

Familial Lenegre Disease

Familial Lev Disease

Familial Lev-Lenegre Disease

Familial Pccd

Familial Progressive Heart Block

Pfhb

Bundle Branch Block

Hbbd

Lenegre Lev Disease

Lev Syndrome

Lev'S Disease

Lev-Lenègre Disease

Pccd

Progressive Cardiac Conduction Defect

Bundle-Branch Block

Progressive Familial Heart Block, Type Ia

PFHB1A

Bundle Branch Block

Heart Block, Nonprogressive

Lenegre-Lev Disease

Hereditary Bundle Branch System Defect

Progressive Familial Heart Block Type Ia

Pfhbia

Pccd

Hbbd

Progressive Familial Heart Block, Type 1a

Heart Block, Progressive Familial, Type I

Pfhbi

Cardiac Conduction Defect, Progressive

Heart Block, Progressive, Type Ia

Progressive Familial Heart Block Type 1a

Familial Progressive Cardiac Conduction Defect

Heart Block Progressive Familial Type 1

Familial Lenègre Disease

Familial Lev Disease

Familial Lev-Lenègre Disease

Familial Pccd

Familial Progressive Heart Block

Hereditary Bundle Branch Defect

Progressive Familial Heart Block

Progressive Familial Heart Block 1a

Cardiac Conduction Defect

Progressive Cardiac Conduction Defect

Progressive Familial Heart Block Type I

Heart Block, Progressive, Familial, Type 1a

Bundle-Branch Block

Conduction Disorder Of The Heart

Lymphangioleiomyomatosis

Lymphangiomyomatosis

LAM

Lung Lymphangioleiomyomatosis

Pulmonary Lymphangioleiomyomatosis

Lymphangioleiomyomatosis, Somatic

Lymphangio-Myomatosis

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Mesenchymal Chondrosarcoma

Chondrosarcoma, Mesenchymal

Chondrosarcoma Mesenchymal

Epithelioid Leiomyosarcoma

Leiomyosarcoma Epithelioid

Leiomyosarcoma, Epithelioid

Adenosarcoma

Mullerian Adenosarcoma

Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

Dedifferentiated Liposarcoma

Ddls

Liposarcoma Dedifferentiated

Liposarcoma, Dedifferentiated

Fibromatosis
Glomus Tumor

Glomus Neoplasm

Glomus Tumour

Myopathy

Muscular Diseases

Myopathies

Alveolar Soft Part Sarcoma

ASPS

Alveolar Soft-Part Sarcoma

Sarcoma, Alveolar Soft Part

Alveolar Soft Tissue Sarcoma

Sarcoma Alveolar Soft Part

Adult Alveolar Soft-Part Sarcoma

Childhood Alveolar Soft-Part Sarcoma

Leiomyosarcoma

Leiomyosarcomas

Fibroma
Carcinosarcoma

Mixed Tumor, Mullerian

Malignant Mixed Mesodermal Tumor

Malignant Mixed Mullerian Tumor

Mmmt

Mixed Tumor, Mesodermal

Mesodermal Mixed Tumor

Mixed Mesodermal Tumor

Mullerian Mixed Tumor

Mixed Mullerian Tumor

Malignant Mixed Müllerian Tumor

Mixed Müllerian Tumor

Mixed Tumor Mullerian

Mixed Tumor, Not Otherwise Specified

Fibrous Histiocytoma

Benign Fibrous Histiocytoma

Histiocytoma, Benign Fibrous

Fibroxanthoma

Histiocytoma Fibrous

Embryonal Rhabdomyosarcoma

Rhabdomyosarcoma, Embryonal

Rhabdomyosarcoma Embryonal

Botryoid Rhabdomyosarcoma

Erms

Spindle Cell Rhabdomyosarcomas

Granular Cell Tumor

Abrikosov'S Tumor

Neoplasm Of Granular Cell

Abrikosoff'S Granulous Cell Tumor

Abrikosoff'S Tumor

Giant Granulocellular Abrikosov'S Tumor

Malignant Variant Of Abrikosov'S Tumor

Carcinoma, Granular Cell

Myopathy, Spheroid Body

Spheroid Body Myopathy

Autosomal Dominant Spheroid Body Myopathy

SBM

Medullary Colon Carcinoma
Angiomyolipoma

Angiomyolipoma Of Kidney

Endometrial Stromal Sarcoma

Ess

Endometrial Stromal Sarcoma, High Grade

Undifferentiated Endometrial Sarcoma

Stromal Sarcoma Of The Corpus Uteri

Sarcoma Endometrial Stromal

Sarcoma, Endometrial Stromal

Undifferentiated Stromal Sarcoma

Dermatofibrosarcoma Protuberans

DFSP

Dermatofibrosarcoma

Giant Cell Fibroblastoma

Metastatic Dermatofibrosarcoma Protuberans

Familial Dermatofibrosarcoma Protuberans

Darier-Ferrand Tumor

Darier-Hoffmann Tumor

Desmoplastic Small Round Cell Tumor

Dsrct

Desmoplastic Small Round-Cell Tumor

Desmoplastic Small Round-Cell Neoplasm

Miyoshi Muscular Dystrophy

Distal Myopathy

Distal Muscular Dystrophy

Miyoshi Myopathy

Distal Myopathies

Dystrophy, Muscular, Miyoshi

Myopathy, Distal

Distal Muscular Dystrophies

Leiomyoma

Leiomyomatous Neoplasm

Leiomyomatous Tumor

Leiomyomas

Fibroid Tumor

Uterine Fibroids

Malignant Fibrous Histiocytoma

Undifferentiated Pleomorphic Sarcoma

Ups

Histiocytoma, Malignant Fibrous

Fibroxanthosarcoma

Mfh

Malignant Fibrohistiocytic Tumors

Histiocytoma, Fibrous, Malignant

Infantile Myofibromatosis

Lipofibromatosis

Myofibromatosis

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Liposarcoma

Lipomatous Cancer

Gastrointestinal Stromal Tumor

GIST

Gastrointestinal Stromal Tumors

Gastrointestinal Stromal Sarcoma

Gastrointestinal Stromal Tumor, Familial

Gant

Gastrointestinal Stromal Tumour

Stromal Tumor Of Gastrointestinal Tract

Stromal Tumour Of Gastrointestinal Tract

Gastrointestinal Stromal Neoplasm

Paraganglioma And Gastric Stromal Sarcoma

Plexosarcoma

Muscle Cancer

Myosarcoma

Malignant Neoplasm Of Muscle

Malignant Tumor Of Muscle

Malignant Tumor Of The Muscle

Muscle Neoplasms

Myomatous Neoplasm

Angiolipoma
Uterus Leiomyosarcoma

Leiomyosarcoma Of Uterus

Leiomyosarcoma Of Corpus Uteri

Leiomyosarcoma Of The Corpus Uteri

Uterine Leiomyosarcoma

Uterine Sarcoma

Sarcoma Of The Uterus

Uterine Corpus Sarcoma

Pseudosarcomatous Fibromatosis

Nodular Fasciitis

Pseudosarcomatous Fasciitis

Fasciitis - Nodular

Fasciitis Nodular

Smooth Muscle Tumor
Pleomorphic Adenoma

Mixed Tumor Of The Salivary Gland

Adenoma Pleomorphic

Adenoma, Pleomorphic

Mixed Salivary Gland Tumor

Mixed Tumor, Not Otherwise Specified

Spindle Cell Sarcoma

Sarcoma

Sarcoma Spindle Cell

Sarcoma, Spindle Cell

Sarcoma - Category

Atrioventricular Block

Av Block

Hemangiopericytoma, Malignant

Hemangiopericytoma

Haemangiopericytic Meningioma

Malignant Hemangiopericytoma

Solitary Fibrous Tumor

Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy

Rhabdomyosarcoma
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 3

Lgmd3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

LGMDR2

Muscular Dystrophy, Limb-Girdle, Type 2s

Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2e

Lgmd2s

Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

Lgmd2y

Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

Muscular Dystrophy, Limb-Girdle, Type 2y

Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Dysferlin-Related Lgmd R2

Lgmd Due To Dysferlin Deficiency

Lgmd Type 2b

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy 2b

Limb-Girdle Muscular Dystrophy, Type 2b

Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

Dystrophy, Muscular, Limb-Girdle, Type 2b

Limb-Girdle Muscular Dystrophy, Type 2e

Batten-Turner Congenital Myopathy

Congenital Myopathy

Batten Turner Congenital Myopathy

Myopathy Congenital

Myopathy, Congenital

Myotonia Congenita

Benign Congenital Myopathy

Cutaneous Fibrous Histiocytoma

Dermatofibroma

Fibrohistiocytic Tumor

Benign Cutaneous Fibrous Histiocytoma

Fibrous Histiocytoma Of Skin

Fibrous Xanthoma Of Skin

Pleomorphic Fibroma

Sclerosing Angioma

Sclerosing Angioma Of Skin

Fibrous Histiocytoma

Chordoma

CHDM

Notochordoma

Notochordal Sarcoma

Chordoma, Susceptibility To

Chordocarcinoma

Chordoepithelioma

Rhabdoid Cancer

Rhabdoid Tumor

Malignant Rhabdoid Tumor

Malignant Rhabdoid Tumour

Rhabdoid Sarcoma

Rhabdoid Tumor Predisposition Syndrome 1

Rhabdoid Tumor Predisposition Syndrome 2

Atypical Teratoid Rhabdoid Tumor

Brain Tumor, Posterior Fossa, Of Infancy, Familial

Atypical Teratoid/Rhabdoid Tumor

Muscular Dystrophy-Dystroglycanopathy , Type C, 7

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u

Lgmd2u

MDDGC7

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 20

Lgmdr20

Muscular Dystrophy, Limb-Girdle, Type 2u

Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Ispd Deficiency

Muscular Dystrophy Limb-Girdle Type 2u

Muscular Dystrophy-Dystroglycanopathy Type C7

Ispd-Related Limb-Girdle Muscular Dystrophy R20

Ispd-Related Lgmd R20

Lgmd Type 2u

Limb-Girdle Muscular Dystrophy Type 2u

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C7

Dystrophy, Muscular, Dystroglycanopathy, Type C7

Muscular Dystrophy-Dystroglycanopathy , Type C, 14

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t

Lgmd2t

MDDGC14

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 19

Lgmdr19

Muscular Dystrophy Limb-Girdle Type 2t

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Gmppb-Related

Muscular Dystrophy, Limb-Girdle, Type 2t

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Gmppb-Related

Muscular Dystrophy-Dystroglycanopathy Type C14

Gmppb-Related Limb-Girdle Muscular Dystrophy R19

Gmppb-Related Lgmd R19

Lgmd Type 2t

Limb-Girdle Muscular Dystrophy Type 2t

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C14

Dystrophy, Muscular, Limb-Girdle, Type 2t

Rhabdomyosarcoma 2

Alveolar Rhabdomyosarcoma

Rhabdomyosarcoma, Alveolar

Rhabdomyosarcoma Alveolar

RMS2

Rmsa

Rhabdomyosarcoma 2, Alveolar

Alveolar Childhood Rhabdomyosarcoma

Arms

Rhabdomyosarcoma, Type 2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w

Lgmd2w

Muscular Dystrophy, Limb-Girdle, Type 2w

Fibrosarcoma

Neoplasms, Fibrous Tissue

Fibrocytic Tumor

Fibrosarcoma Of Soft Tissue

Fibrous Tissue Neoplasm

Pulmonary Blastoma

Blastoma Of Lung

Pneumoblastoma

Syringoma

Syringomas

Muscular Dystrophy-Dystroglycanopathy , Type C, 9

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p

Lgmd2p

MDDGC9

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 16

Lgmdr16

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Dag1-Related

Muscular Dystrophy, Limb-Girdle, Type 2p

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dag1-Related

Muscular Dystrophy-Dystroglycanopathy Type C9

Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16

Alpha-Dystroglycan-Related Lgmd R16

Lgmd Type 2p

Limb-Girdle Muscular Dystrophy Type 2p

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C9

Muscular Dystrophy Limb-Girdle Type 2p

Dystrophy, Muscular, Limb-Girdle, Type 2p

Central Core Disease Of Muscle

Central Core Disease

Central Core Myopathy

CCD

Cco

Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber

Myopathy, Central Core

Shy-Magee Syndrome

Muscle Core Disease

Muscular Central Core Disease

Myopathy, Central Fibrillar

Shy'S Disease

Moderate Multiminicore Disease With Hand Involvement

Nephroma

Benign Nephroma

Adenomatoid Tumor

Adenomatoid Tumour

Benign Localised Epithelial Mesothelioma

Benign Localized Epithelial Mesothelioma

Neuroleptic Malignant Syndrome
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Sertoli-Leydig Cell Tumor

Sertoli-Leydig Cell Tumors

Androblastoma Of Ovary

Arrhenoblastoma

Arrhenoblastoma Of Ovary

Sertoli-Leydig Cell Tumor Of The Ovary

Sertoli-Leydig Cell Tumor Of Intermediate Differentiation

Sertoli-Leydig Cell Tumor Of Ovary

Perineurioma

Soft Tissue Perineurioma

Myoepithelioma

Benign Myoepithelioma

Myoepithelial Adenoma

Myoepithelial Neoplasm

Malignant Myoepithelioma

Limb-Girdle Muscular Dystrophy

Lgmd

Limb Girdle Muscular Dystrophy

Muscular Dystrophies, Limb-Girdle

Erb'S Muscular Dystrophy

Leyden-Mbius Muscular Dystrophy

Limb-Girdle Syndrome

Myopathic Limb-Girdle Syndrome

Limb Girdle

Muscular Dystrophy Limb-Girdle

Dystrophy, Muscular, Limb-Girdle

Lgmd - [Limb-Girdle Muscular Dystrophy]

Limb Girdle Muscle Dystrophy

Limb-Girdle Myopathy

Immunodeficiency 48

Combined Immunodeficiency Due To Zap70 Deficiency

IMD48

Selective T-Cell Defect

Stcd

Zeta-Associated-Protein 70 Deficiency

Severe Combined Immunodeficiency, Atypical

Immunodeficiency, Type 48

Zap70 Deficiency

Leiomyomatosis
Echinostomiasis

Infection By Echinochasmus

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Muscular Dystrophy, Limb-Girdle, Type 1e

Lgmd1d

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d

LGMDD1

Lgmd1e

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1

Limb-Girdle Muscular Dystrophy Type 1d

Muscular Dystrophy, Limb-Girdle, Type 1d

Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly

Lgmd1d, Formerly

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

Muscular Dystrophy Limb-Girdle Type 1d

Muscular Dystrophy Limb-Girdle Type 1e

Dnajb6-Related Limb-Girdle Muscular Dystrophy D1

Dnajb6-Related Lgmd D1

Lgmd Type 1d

Limb-Girdle Muscular Dystrophy 1e

Limb-Girdle Muscular Dystrophy-1d, Autosomal Dominant

Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1

Dystrophy, Muscular, Limb-Girdle, Type 1e

Benign Giant Cell Tumor

Giant Cell Tumors

Lipomatosis, Multiple

Lipoma

Familial Multiple Lipomatosis

Lipomatosis, Familial Multiple

Benign Lipomatous Tumor

Lipomatous Neoplasm

Multiple Lipomatosis

Fml

Lipo

Benign Tumor Of Adipose Tissue

Lipomatous Tumor

Tumor Of Adipose Tissue

Neoplasms, Adipose Tissue

Lipomas

Desmoid Tumor

Aggressive Fibromatosis

Desmoid Type Fibromatosis

Familial Infiltrative Fibromatosis

Desmoid Disorder, Hereditary

Fif

Fibromatosis, Familial Infiltrative

Deep Fibromatosis

Desmoid Fibromatosis

Hereditary Desmoid Disease

Musculoaponeurotic Fibromatosis

Desmoid-Type Fibromatosis

Fibromatosis, Aggressive

Desmoid Disease, Hereditary

Musculo-Aponeurotic Fibromatosis

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

Lgmd1g

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

LGMDD3

Muscular Dystrophy, Limb-Girdle, Type 1g

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 3

Limb-Girdle Muscular Dystrophy, Type 1g

Muscular Dystrophy Limb-Girdle Type 1g

Hnrnpdl-Related Limb-Girdle Muscular Dystrophy D3

Hnrnpdl-Related Lgmd D3

Lgmd Type 1g

Limb-Girdle Muscular Dystrophy Type 1g

Limb-Girdle Muscular Dystrophy 1g

Dystrophy, Muscular, Limb-Girdle, Type 1g

Neurilemmoma

Schwannoma

Benign Schwannoma

Neurilemoma

Peripheral Fibroblastoma

Psammomatous Schwannoma

Neurolemmoma

Schwannomas

Castleman Disease

Angiofollicular Ganglionic Hyperplasia

Angiofollicular Lymph Hyperplasia

Giant Lymph Node Hyperplasia

Castleman'S Disease

Angiofollicular Lymph Node Hyperplasia

Lymphoid Hamartoma

Benign Giant Lymphoma

Angiolymphoid Hyperplasia

Fasciitis
Atrial Standstill 1

ATRST1

Atrial Cardiomyopathy With Heart Block

Cardiomyopathy, Familial, With Conduction Disturbance

Atrial Standstill, Digenic

Familial Cardiomyopathy With Conduction Disturbance

Standstill, Atrial, Type 1

Heart Block

Cardiomyopathies

Idiopathic Cardiomyopathy

Idiopathic Cardiopathy

Primary Myocardial Disease

Primary Cardiomyopathy

Myocardiopathy

Myocardosis

Primary Idiopathic Myocardial Disease

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Lgmd2g

Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2g

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j

Lgmd2j

Muscular Dystrophy, Limb-Girdle, Type 2j

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Sarcoma, Synovial

Synovial Sarcoma

Synovialosarcoma

Synovial Cell Sarcoma

Sarcoma Synovial

Pneumothorax

Pneumothorax Nos

Air Leak Nos

Pleural Air Leak Nos

Myasthenic Syndrome, Congenital, 6, Presynaptic

Familial Infantile Myasthenia

CMS6

Cmsea

Congenital Myasthenic Syndrome 6

Familial Infantile Myasthenia Gravis 2

Fimg2

Myasthenic Syndrome, Congenital, Associated With Episodic Apnea

Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea

Congenital Myasthenic Syndrome Type Ia2, Formerly

Cms1a2, Formerly

Cms Ia2, Formerly

Myasthenia, Familial Infantile, Formerly

Fim, Formerly

Myasthenia Gravis, Familial Infantile, 2, Formerly

Fimg2, Formerly

Cms Ia2

Cms1a2

Congenital Myasthenic Syndrome 6, Presynaptic

Congenital Myasthenic Syndrome Type Ia2

Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea

Fim

Cms1a

Cms-Ea

Cms Ia

Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea

Congenital Myasthenic Syndrome Type 1a

Congenital Myasthenic Syndrome Type Ia

Myasthenic Syndrome, Congenital, Type 6, Presynaptic

Lipodystrophy, Familial Partial, Type 6

FPLD6

Lipe-Related Familial Partial Lipodystrophy

Familial Partial Lipodystrophy Type 6

Lipe-Related Fpld

Lipodystrophy, Familial Partial, Associated With Lipe Mutations

Familial Partial Lipodystrophy Associated With Lipe Mutations

Lipodystrophy, Familial Partial, 6

Myopathy, Myofibrillar, 3

Myotilinopathy

Myofibrillar Myopathy 3

MFM3

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a

Lgmd1a

Muscular Dystrophy, Limb-Girdle, Type 1a

Myopathy, Myofibrillar, Myotilin-Related

Muscular Dystrophy, Limb-Girdle, Type 1, Formerly

Lgmd1, Formerly

Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly

Lgmd1a, Formerly

Qualitative Or Quantitative Defects Of Myotilin

Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency

Distal Myotilinopathy

Lgmd1

Limb-Girdle Muscular Dystrophy 1a

Mfm Myotilin-Related

Muscular Dystrophy, Limb-Girdle, Type 1

Myopathy Myofibrillar Myotylin-Related

Myopathy, Myofibrillar, Type 3

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Achalasia

Cardiospasm

Achalasia Of Cardia

Esophageal Achalasia

Hypertensive Lower Esophageal Sphincter

Idiopathic Achalasia

Achalasia Cardia

Idiopathic Achalasia Of Esophagus

Primary Achalasia

Achalasia Of Esophagus

Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter

Aperistalsis Of The Oesophagus

Achalasia Of Oesophagus

Oesophageal Achalasia

Achalasia Nos

Cardia Spasm

Cardia Achalasia

Oesophageal Cardiospasm

Oesophagus Achalasia

Reflex Cardiospasm

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Ewing Sarcoma

Neuroepithelioma

Ewing'S Tumor

Primitive Neuroectodermal Tumor

Ewings Sarcoma

Ewing'S Sarcoma

Peripheral Neuroepithelioma

ES

Ewings Sarcoma-Primitive Neuroectodermal Tumor

Localized Peripheral Primitive Neuroectodermal Tumor

Peripheral Primitive Neuroectodermal Tumor

Ewing Tumor

Sarcoma, Ewing'S

Ewing Family Of Tumors

Extraosseous Ewing Tumor

Askin Tumor

Ewing'S Family Localized Tumor

Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing Sarcoma

Localized Ewing'S Sarcoma

Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing'S Tumor

Pnet Of Thoracopulmonary Region

Tumor Of The Ewing Family

Skeletal Ewing Sarcoma

Osseous Ewing Sarcoma

Ppnet

Peripheral Pnet

Extraskeletal Ewing Sarcoma

Eoe

Extraosseous Ewing Sarcoma

Extraskeletal Ewing Tumor

Esft

Ewing Sarcoma Family Of Tumors

Pne

Pnet

Pnet Of The Chest Wall

Sarcoma, Ewing

Neuroectodermal Tumors, Primitive, Peripheral

Neuroectodermal Tumor, Primitive

Disorder Of Eye

Askin'S Tumor

Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

Neuroepithelioma, Peripheral

Cardiomyopathy, Dilated, 1h

Dilated Cardiomyopathy 1h

Dilated Cardiomyopathy With Conduction Defect

CMD1H

Cardiomyopathy, Dilated, With Conduction Defect

Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy

DMD

Muscular Dystrophy, Duchenne

Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

Severe Dystrophinopathy, Duchenne Type

Muscular Dystrophy Duchenne

Dystrophy, Muscular, Duchenne Type

Benign Duchenne Muscular Dystrophy

Duchenne Motor Neuron Disease

Duchenne Type Dystrophy

Duchenne-Griesinger Disease

Constipation
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 DES MGD MGI:94885
Canis familiaris DES VGNC VGNC:39905
Rattus norvegicus DES RGD RGD:620686
Bos taurus DES VGNC VGNC:28013
Macaca mulatta DES VGNC VGNC:71770
Felis catus DES VGNC VGNC:61451
Others DES NCBI