DAG1 - dystroglycan 1 Gene

Homo sapiens

Also known as A3a; DAG; AGRNR; 156DAG; MDDGA9; MDDGC7; MDDGC9; LGMDR16

Gene ID: 1605 | Gene type: protein coding

About DAG1

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,468,948-49,535,615 (from NCBI)

This gene has 19 transcripts (splice variants), 268 orthologues and is associated with 5 phenotypes. Ubiquitous expression in placenta (RPKM 41.6), heart (RPKM 23.5) and 24 other tissues.

Summary

This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the Cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]

DAG1 Products(26)

mRNA	Protein	Name
NM_001165928.4	NP_001159400.3	dystroglycan 1 preproprotein
NM_001177634.3	NP_001171105.2	dystroglycan 1 preproprotein
NM_001177635.3	NP_001171106.2	dystroglycan 1 preproprotein
NM_001177636.3	NP_001171107.2	dystroglycan 1 preproprotein
NM_001177637.3	NP_001171108.2	dystroglycan 1 preproprotein
NM_001177638.3	NP_001171109.2	dystroglycan 1 preproprotein
NM_001177639.3	NP_001171110.2	dystroglycan 1 preproprotein
NM_001177640.3	NP_001171111.2	dystroglycan 1 preproprotein
NM_001177641.3	NP_001171112.2	dystroglycan 1 preproprotein
NM_001177642.3	NP_001171113.2	dystroglycan 1 preproprotein
NM_001177643.3	NP_001171114.2	dystroglycan 1 preproprotein
NM_001177644.3	NP_001171115.2	dystroglycan 1 preproprotein
NM_004393.6	NP_004384.5	dystroglycan 1 preproprotein
NM_001165928.4	NP_001159400.3	dystroglycan 1 preproprotein
NM_001177634.3	NP_001171105.2	dystroglycan 1 preproprotein
NM_001177635.3	NP_001171106.2	dystroglycan 1 preproprotein
NM_001177636.3	NP_001171107.2	dystroglycan 1 preproprotein
NM_001177637.3	NP_001171108.2	dystroglycan 1 preproprotein
NM_001177638.3	NP_001171109.2	dystroglycan 1 preproprotein
NM_001177639.3	NP_001171110.2	dystroglycan 1 preproprotein
NM_001177640.3	NP_001171111.2	dystroglycan 1 preproprotein
NM_001177641.3	NP_001171112.2	dystroglycan 1 preproprotein
NM_001177642.3	NP_001171113.2	dystroglycan 1 preproprotein
NM_001177643.3	NP_001171114.2	dystroglycan 1 preproprotein
NM_001177644.3	NP_001171115.2	dystroglycan 1 preproprotein
NM_004393.6	NP_004384.5	dystroglycan 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables SH2 domain binding	IDA IDA: Inferred from direct assay	11724572	GOA
enables actin binding	IDA IDA: Inferred from direct assay	18341635	GOA
enables alpha-actinin binding	IDA IDA: Inferred from direct assay	18341635	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9417121	GOA
enables structural constituent of muscle	IMP IMP: Inferred from mutant phenotype	18691338	GOA
enables tubulin binding	IDA IDA: Inferred from direct assay	18341635	GOA
enables vinculin binding	IPI IPI: Inferred from physical interaction	18341635	GOA
enables virus receptor activity	IDA IDA: Inferred from direct assay	22156524	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in membrane protein ectodomain proteolysis	IDA IDA: Inferred from direct assay	19946898	GOA
involved in microtubule anchoring	IMP IMP: Inferred from mutant phenotype	18341635	GOA
involved in negative regulation of MAPK cascade	IMP IMP: Inferred from mutant phenotype	19587235	GOA
involved in negative regulation of cell migration	IMP IMP: Inferred from mutant phenotype	19587235	GOA
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP IMP: Inferred from mutant phenotype	19587235	GOA
involved in positive regulation of basement membrane assembly involved in embryonic body morphogenesis	IMP IMP: Inferred from mutant phenotype	23940118	GOA
involved in regulation of epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	23940118	GOA
involved in regulation of gastrulation	IMP IMP: Inferred from mutant phenotype	23940118	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in basement membrane	IDA IDA: Inferred from direct assay	19348877	GOA
located in contractile ring	IDA IDA: Inferred from direct assay	18341635	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	18764929	GOA
part of dystrophin-associated glycoprotein complex	IDA IDA: Inferred from direct assay	17993586	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	18201566	GOA
located in filopodium	IDA IDA: Inferred from direct assay	18341635	GOA
colocalizes with focal adhesion	IDA IDA: Inferred from direct assay	18341635	GOA
located in lamellipodium	IDA IDA: Inferred from direct assay	18341635	GOA
located in membrane	IDA IDA: Inferred from direct assay	17628813	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	18764929	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	8017170	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

DAG1 Protein Structure

DAG1

0
200
400
600
800
895 a.a.

Protein Preferred Names

Protein Names

dystroglycan 1

dystroglycan 1 (dystrophin-associated glycoprotein 1)

Recombinant DAG1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75311	DAG1 Protein, Human (HEK293, His)	Q14118 (H30-V749)	≥95%

Related Diseases

Diseases

Alias

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

Muscular Dystrophy-Dystroglycanopathy , Type A, 9

MDDGA9	Walker-Warburg Syndrome Or Muscle-Eye Brain Disease, Dag1-Related
Muscular Dystrophy-Dystroglycanopathy , Type A9	Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Meb Disease With Bilateral Multicystic Leucodystrophy	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A9
Dystrophy, Muscular, Dystroglycanopathy , Type A9

Walker-Warburg Syndrome

Hard Syndrome	Walker-Warburg Congenital Muscular Dystrophy
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Chemke Syndrome	Hydrocephalus, Agyria And Retinal Dysplasia
Cerebroocular Dysgenesis	Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Hard +/- E Syndrome	Pagon Syndrome
Warburg Syndrome	Hydrocephalus, Agyria, And Retinal Dysplasia
Mddga	Muscular Dystrophy-Dystroglycanopathy , Type A
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A	Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
Wws	Dystrophy, Muscular, Dystroglycanopathy, Type A

Lassa Fever

Lf	Lassa Hemorrhagic Fever
Lf - [Lassa Fever]

Lymphocytic Choriomeningitis

Lcm	Lymphocytic Meningitis
Lymphocytic Choriomeningitis Virus Encephalomyelitis	Lymphocytic Meningoencephalitis
Non-Arthropod Borne Lymphocytic Choriomeningitis	Lcm - [Lymphocytic Choriomeningitis]
Benign Lymphocytic Meningitis	Meningitis Due To Lymphocytic Choriomeningitis Virus

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

Muscle Eye Brain Disease

Muscle-Eye-Brain Disease	Muscle-Eye-Brain Syndrome
Meb	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3
Meb Syndrome	Santavuori Congenital Muscular Dystrophy

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk	Idiopathic Hyperckemia
Isolated Hyperckemia	Elevated Serum Creatine Phosphokinase
H-Ck	Idiopathic Persistent Elevation Of Serum Creatine Kinase

Cobblestone Lissencephaly

Lissencephaly Type 2

Lissencephaly, Cobblestone

Creatine Phosphokinase, Elevated Serum

Hyperckemia, Idiopathic	Cpk, Elevated Serum
Hyperckmia	HYPCK

Muscular Dystrophy-Dystroglycanopathy

Cmd Due To Dystroglycanopathy	Congenital Muscular Dystrophy Due To Dystroglycanopathy
Mddg	Dystrophy, Muscular, Dystroglycanopathy

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy	Congenital Muscular Dystrophy Due To Lmna Mutation
MDCL	L-Cmd
Lmna-Related Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital
Congenital Muscular Dystrophy Lmna-Related	Lmna-Related Cmd
Cmd	Mdc
Muscular Dystrophy Congenital Lmna-Related	Dystrophy, Muscular, Congenital, Lmna-Related
Dystrophy, Muscular, Congenital	Hereditary Muscular Dystrophy
Congenital Hereditary Muscular Dystrophy	Congenital Progressive Muscular Dystrophy
Hereditary Progressive Muscular Dystrophy

Cardiomyopathy, Dilated, 1d

Dilated Cardiomyopathy 1d	CMD1D
Left Ventricular Noncompaction 6, Included	Lvnc6, Included
Left Ventricular Noncompaction 6	Cardiomyopathy, Dilated 1d

Muscular Dystrophy, Congenital Merosin-Deficient, 1a

MDC1A	Lama2-Related Muscular Dystrophy
Atrophie Blanche	Muscular Dystrophy, Congenital Merosin-Deficient
Congenital Merosin-Deficient Muscular Dystrophy 1a	Merosin-Negative Congenital Muscular Dystrophy
Muscular Dystrophy White Matter Spongiosis	Merosin Deficient Congenital Muscular Dystrophy
Muscular Dystrophy Congenital, Merosin Negative	Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient
Cmd1a	Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency
Congenital Muscular Dystrophy Type 1a	Laminin Alpha-2 Deficiency
Merosin-Deficient Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital, Merosin-Deficient
Lama2 Md	Laminin Alpha 2 Deficiency
Laminin Alpha-2 Deficient Muscular Dystrophy	Merosin-Deficient Muscular Dystrophy
Muscular Dystrophy Due To Lama2 Deficiency	Merosin-Deficient Congenital Muscular Dystrophy 1a
Cardiomyopathy, Familial Idiopathic

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

Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A5	Mddga5
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fkrp-Related

Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MDDGB1	Muscular Dystrophy-Dystroglycanopathy , Type B1
Muscular Dystrophy, Congenital, Pomt1-Related	Muscular Dystrophy-Dystroglycanopathy Type B1
Cmd Due To Dystroglycanopathy	Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1
Muscular Dystrophy Congenital Pomt1-Related	Muscular Dystrophy-Dystroglycanopathy
Dystrophy, Muscular, Dystroglycanopathy , Type B1

Congenital Muscular Dystrophy-Dystroglycanopathy A14

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A14	Mddga14
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Gmppb-Related	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A 14

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Myocarditis

Myocardial Inflammation

Inflammatory Cardiomyopathy

Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k	Lgmd2k
MDDGC1	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11
Lgmdr11	Muscular Dystrophy, Limb-Girdle, Type 2k
Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome	Limb-Girdle Muscular Dystrophy Type 2k
Muscular Dystrophy Limb-Girdle Type 2k	Muscular Dystrophy-Dystroglycanopathy Type C 1
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lgmd Type 2k
Pomt1-Related Lgmd R11	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1
Dystrophy, Muscular, Limb-Girdle, Type 2k	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1

Congenital Muscular Dystrophy-Dystroglycanopathy Type A

Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies	Mddga
Klissencephaly Type 2 With Muscular And Ocular Involvement	Lissencephaly Type 2 With Muscular And Ocular Involvement

Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n	Lgmd2n
MDDGC2	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14
Lgmdr14	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related
Limb-Girdle Muscular Dystrophy Type 2n	Muscular Dystrophy, Limb-Girdle, Type 2n
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related	Muscular Dystrophy-Dystroglycanopathy Type C 2
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Lgmd Type 2n
Pomt2-Related Lgmd R14	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2
Mdgd2c	Dystrophy, Muscular, Limb-Girdle, Type 2n

Brazilian Hemorrhagic Fever

Sabia Hemorrhagic Fever

Venezuelan Hemorrhagic Fever

Guanarito Hemorrhagic Fever

Vehf - [Venezuelan Haemorrhagic Fever]

Nonaka Myopathy

Gne Myopathy	Hibm
Distal Myopathy With Rimmed Vacuoles	Hereditary Inclusion Body Myopathy
Ibm2	Inclusion Body Myopathy, Quadriceps-Sparing
Qsm	Dmrv
Distal Myopathy, Nonaka Type	Inclusion Body Myopathy 2
Inclusion Body Myopathy, Autosomal Recessive	NM
Nonaka Distal Myopathy	Myopathy, Distal, With Or Without Rimmed Vacuoles
Inclusion Body Myopathy, Hereditary, Autosomal Recessive	Inclusion Body Myopathy Type 2
Quadriceps-Sparing Myopathy	Quadriceps Sparing Myopathy
Rimmed Vacuole Myopathy	Inclusion Body Myopathy 2, Autosomal Recessive, Formerly
Ibm2, Formerly	Hibm2
Hereditary Inclusion Body Myopathy Type 2	Inclusion Body Myopathy 2, Autosomal Recessive
Myopathy, Distal, With Rimmed Vacuoles	Inclusion Body Myopathy Autosomal Recessive
Myopathy, Inclusion Body, Type 2	Myopathy, Nonaka

Muscular Dystrophy, Congenital, 1b

MDC1B	Congenital Muscular Dystrophy 1b
Cmd1b	Congenital Muscular Dystrophy Type 1b
Familial Dilated Cardiomyopathy

Bolivian Hemorrhagic Fever

Machupo Hemorrhagic Fever	Hemorrhagic Fever, Bolivian
Bhf - [Bolivian Haemorrhagic Fever]	Machupo Haemorrhagic Fever

Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1	Mddga1
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related

Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Muscular Dystrophy-Dystroglycanopathy Type B6	MDDGB6
Mdc1d	Muscular Dystrophy, Congenital, Type 1d
Congenital Muscular Dystrophy Type 1d	Dystrophy, Muscular, Dystroglycanopathy , Type B6
Muscular Dystrophy, Congenital, Large-Related	Congenital Muscular Dystrophy Large-Related
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6	Muscular Dystrophy Large-Related

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

Cardiomyopathy, Dilated, 1x

Dilated Cardiomyopathy 1x	CMD1X
Dilated Cardiomyopathy With Mild Or No Proximal Muscle Weakness	Cardiomyopathy, Dilated, With Mild Or No Proximal Muscle Weakness
Cardiomyopathy, Dilated 1x	Cardiomyopathy, Dilated, Type 1x

Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Mdc1c	Muscular Dystrophy-Dystroglycanopathy Type B5
MDDGB5	Muscular Dystrophy, Congenital, 1c
Muscular Dystrophy, Congenital, Fkrp-Related	Congenital Muscular Dystrophy 1c
Fkrp-Related Congenital Muscular Dystrophy	Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5
Muscular Dystrophy Congenital Type 1c	Muscular Dystrophy Fkrp-Related

Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m	Lgmd2m
MDDGC4	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13
Lgmdr13	Muscular Dystrophy, Limb-Girdle, Type 2m
Muscular Dystrophy-Dystroglycanopathy Type C 4	Fukutin-Related Limb-Girdle Muscular Dystrophy R13
Autosomal Recessive Lgmd Type 2m	Fukutin-Related Lgmd R13
Lgmd Type 2m	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4
Limb-Girdle Muscular Dystrophy Type 2m	Mdgd4c
Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c	Dystrophy, Muscular, Limb-Girdle, Type 2m

Cardiomyopathy, Dilated, 3b

Dilated Cardiomyopathy 3b	CMD3B
X-Linked Dilated Cardiomyopathy	Xlcm
Dmd-Associated Dilated Cardiomyopathy	Cardiomyopathy, Dilated, X-Linked
Dmd-Related Dilated Cardiomyopathy	Xldc
Cardiomyopathy, Dilated, X-Linked 3b	Cardiomyopathy, Dilated, Type 3b

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

Argentine Hemorrhagic Fever

Argentinian Hemorrhagic Fever	Junin Hemorrhagic Fever
Hemorrhagic Fever, Argentinian	Ahf - [Argentinian Haemorrhagic Fever]
Argentine Haemorrhagic Fever	Junin Haemorrhagic Fever

Muscular Dystrophy-Dystroglycanopathy , Type A, 4

Fukuyama Congenital Muscular Dystrophy	Fcmd
MDDGA4	Fukuyama Type Congenital Muscular Dystrophy
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related	Cerebromuscular Dystrophy, Fukuyama Type
Fukuyama Cmd	Fukuyama Muscular Dystrophy
Fukuyama Syndrome	Muscular Dystrophy, Congenital Progressive, With Mental Retardation
Muscular Dystrophy, Congenital, Fukuyama Type	Muscular Dystrophy, Congenital, With Central Nervous System Involvement
Polymicrogyria With Muscular Dystrophy	Congenital Muscular Dystrophy, Fukuyama Type
Fktn-Related Congenital Muscular Dystrophy	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4
Cerebromuscular Dystrophy Fukuyama Type	Congenital Muscular Dystrophy Fukuyama Type
Micropolygyria With Muscular Dystrophy	Muscle-Eye-Brain Disease Fktn-Related
Walker-Warburg Syndrome Fktn-Related

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

Limb-Girdle Muscular Dystrophy 21

Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Lgmd2i	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i
MDDGC5	Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency
Limb-Girdle Muscular Dystrophy Type 2i	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9
Lgmdr9	Muscular Dystrophy, Limb-Girdle, Type 2i
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related	Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Fkrp-Related Lgmd R9	Lgmd Due To Fkrp Deficiency
Lgmd Type 2i	Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related
Muscular Dystrophy Limb-Girdle Type 2i	Muscular Dystrophy-Dystroglycanopathy Type C 5
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5	Dystrophy, Muscular, Limb-Girdle, Type 2i

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

Miyoshi Muscular Dystrophy

Distal Myopathy	Distal Muscular Dystrophy
Miyoshi Myopathy	Distal Myopathies
Dystrophy, Muscular, Miyoshi	Myopathy, Distal
Distal Muscular Dystrophies

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1	Deficiency Of Sarcoglycan Gamma
Dmda1	Gamma-Sarcoglycanopathy
Lgmd2c	Limb-Girdle Muscular Dystrophy Due To Gamma-Sarcoglycan Deficiency
Maghrebian Myopathy	Muscular Dystrophy, Limb-Girdle, Type 2c
Scarmd	Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Alpha-Sarcoglycanopathy	Dmda2
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2	Lgmd2d
Muscular Dystrophy, Limb-Girdle, Type 2d	Primary Adhalinopathy

Muscular Dystrophy, Becker Type

Becker Muscular Dystrophy	BMD
Benign Pseudohypertrophic Muscular Dystrophy	Benign Congenital Myopathy
Becker Dystrophinopathy	Becker'S Muscular Dystrophy
Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type	Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type
Muscular Dystrophy Becker	Dystrophy, Muscular, Becker Type
Dystrophinopathy	Becker Dystrophy
Becker Type Dystrophy	Bmd - [Becker Muscular Dystrophy]

Muscle Tissue Disease

Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A11	Mddga11
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A11

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Delta-Sarcoglycanopathy	Lgmd2f
Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency	Limb-Girdle Muscular Dystrophy Type 2f

Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o	MDDGC3
Lgmd2o	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15
Lgmdr15	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related
Muscular Dystrophy, Limb-Girdle, Type 2o	Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related
Muscular Dystrophy-Dystroglycanopathy Type C3	Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15
Lgmd Type 2o	Limb-Girdle Muscular Dystrophy Type 2o
Pomgnt1-Related Lgmd R15	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3
Dystrophy, Muscular, Limb-Girdle, Type 2o

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency

Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency	Muscular Dystrophy, Congenital, Due To Itga7 Deficiency
Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency	Congenital Muscular Dystrophy With Itga7 Deficiency
Congenital Myopathy Due To Integrin Alpha-7 Deficiency	Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular Dystrophy Congenital Due To Integrin Alpha-7 Deficiency	MDCI
Dystrophy, Muscular, Congenital, Due To Integrin Alpha-7 Deficiency

Bethlem Myopathy 1

Bethlem Myopathy	Myopathy, Benign Congenital, With Contractures
Muscular Dystrophy, Benign Congenital	BTHLM1
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5	Lgmdd5
Benign Congenital Muscular Dystrophy	Benign Autosomal Dominant Myopathy
Myopathy, Bethlem	Myopathy, Bethlem, Type 1

Lujo Hemorrhagic Fever

Zambian Hemorrhagic Fever

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii	CDG2E
Congenital Disorder Of Glycosylation Type Iie	IMD47
Cdg2s	Cdg Iis
Cdgiis	Immunodeficiency And Hepatopathy With Or Without Neurologic Features
Congenital Disorder Of Glycosylation, Type Ii	CDG1I
Congenital Disorder Of Glycosylation, Type Iie	Cdg Iie
Congenital Disorder Of Glycosylation Type 2e	Congenital Disorder Of Glycosylation, Type Iis
Cdg Ii	Cdgii
Cdgiie	Carbohydrate Deficient Glycoprotein Syndrome Type Iie
Cdg Syndrome Type Iie	Congenital Disorder Of Glycosylation Ii
Congenital Disorder Of Glycosylation 1i	Cdg-Iie
Alg2-Cdg	Cdg-Ii
Glycosylation, Congenital Disorder Of, Type Ii	Cdgiide
Congenital Disorder Of Glycosylation Type Iis	Cog7-Cdg
Cdg Syndrome Type Ii	Carbohydrate Deficient Glycoprotein Syndrome Type Ii
Congenital Disorder Of Glycosylation Type 1i	Mannosyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2e	Congenital Disorder Of Glycosylation 2s
Congenital Disorders Of Glycosylation Type Ii	Glycosylation, Congenital Disorder Of, Type Iie
Immunodeficiency, Type 47	Congenital Disorder Of Glycosylation Type 2a

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

Leyden-Moebius Muscular Dystrophy	Lgmd2a
Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency	Muscular Dystrophy, Limb-Girdle, Type 2a
Pelvofemoral Muscular Dystrophy	Primary Calpainopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l

Lgmd2l

Muscular Dystrophy, Limb-Girdle, Type 2l

Muscular Disease

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

Myopathy

Muscular Diseases

Myopathies

Hydrophthalmos

Ullrich Congenital Muscular Dystrophy 1

Ullrich Congenital Muscular Dystrophy	Ullrich Disease
Ucmd	Ullrich Scleroatonic Muscular Dystrophy
Scleroatonic Muscular Dystrophy	UCMD1
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22	Lgmdr22
Muscular Dystrophy, Scleroatonic	Late Onset Scleroatonic Familial Myopathy
Congenital Muscular Dystrophy, Ullrich Type

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2b	Lgmd3
Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency	Limb-Girdle Muscular Dystrophy Type 3
Muscular Dystrophy, Limb-Girdle, Type 2b

Glaucoma 3, Primary Congenital, A

Buphthalmos	Glaucoma, Congenital
Congenital Glaucoma	Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
GLC3A	Glc3
Buphthalmia	Primary Congenital Glaucoma
Glaucoma, Primary Open Angle, Juvenile-Onset	Simple Buphthalmos
Buphthalmus	Glaucoma, Primary Open Angle, Adult-Onset
Primary Congenital Glaucoma 3a	Primary Infantile Glaucoma Type 3a
Glaucoma 3a, Primary Congenital	Glaucoma, Congenital, Primary, Type 3a
Hydrophthalmos	Cystic Eyeball

Inner Ear Disease

Labyrinthine Dysfunction	Diseases Of Inner Ear
Labyrinthine Disease	Abnormality Of The Inner Ear
Labyrinth Diseases	Labyrinthine Disorder
Nonfunctioning Labyrinth	Labyrinthine Loss Of Function
Labyrinthine Syndrome	Labyrinthine Disorder Nos

Physical Disorder

Physical Illness

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal Glomerulosclerosis
Fsgs	Segmental Glomerulosclerosis
Glomerulosclerosis, Focal Segmental	Fgs
Focal Glomerular Sclerosis	Familial Idiopathic Nephrotic Syndrome
Focal Sclerosis With Hyalinosis	Glomerulosclerosis, Focal
Glomerulosclerosis Focal	Glomerulosclerosis, Segmental, Focal
Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Rigid Spine Muscular Dystrophy 1

Rigid Spine Syndrome	RSMD1
Rss	Mdrs1
Eichsfeld Type Congenital Muscular Dystrophy	Desmin-Related Myopathy With Mallory Bodies
Classic Multiminicore Myopathy	Sepn1-Related Myopathy
Multicore Myopathy, Severe Classic Form	Minicore Myopathy, Severe Classic Form
Multiminicore Disease, Severe Classic Form	Muscular Dystrophy, Rigid Spine, 1
Classic Mmd	Classic Multiminicore Disease
Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity	Desmin-Related Myopathy With Mallory Body-Like Inclusions
Early-Onset Desmin-Related Myopathy	Myopathy, Sepn1-Related
Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity	Muscular Dystrophy, Congenital, Eichsfeld Type
Severe Classic Form Minicore Myopathy	Severe Classic Form Multicore Myopathy
Severe Classic Form Multiminicore Disease	Desmin-Related Myopathies With Mallory Bodies
Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity	Rigid Spine Muscular Dystrophy-1
Rigid Spine Congenital Muscular Dystrophy	Congenital Muscular Dystrophy Eichsfeld Type
Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity	Minicore Myopathy Severe Classic Form
Multicore Myopathy Severe Classic Form	Multiminicore Disease Severe Classic Form
Dystrophy, Muscular, Rigid Spine, Type 1

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Gas Gangrene

Myonecrosis	Gas Bacillus Infection
Gas Gangrene Due To Clostridia	Clostridial Myonecrosis
Clostridial Cellulitis

Fragile X Syndrome

FXS	Martin-Bell Syndrome
Fraxa Syndrome	Marker X Syndrome
X-Linked Mental Retardation And Macroorchidism	Fragile X Mental Retardation Syndrome
Fra Syndrome	Mental Retardation, X-Linked, Associated With Marxq28
X-Linked Intellectual Disability And Macroorchidism	Frax Syndrome
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Fragile-X Syndrome
Fraxe Syndrome

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

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, 1g

Dilated Cardiomyopathy 1g	CMD1G
Cardiomyopathy, Dilated 1g	Cardiomyopathy, Dilated, Type 1g

Peters-Plus Syndrome

Krause-Kivlin Syndrome	Peters Plus Syndrome
Peters Anomaly	Irido-Corneo-Trabecular Dysgenesis
PTRPLS	Peters Anomaly With Short-Limb Dwarfism
Peters Anomaly-Short Limb Dwarfism Syndrome	Peters Anomaly With Short Limb Dwarfism
Peters Congenital Glaucoma	Krause-Van Schooneveld-Kivlin Syndrome
Peters' Plus Syndrome	Peters'-Plus Syndrome
Anomaly Peters

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion	Cftdm
Congenital Myopathy With Fiber Type Disproportion	Cftd
Congenital Fiber-Type Disproportion Myopathy	Fiber-Type Disproportion Myopathy, Congenital
Myopathy, Congenital With Fiber-Type Disproportion

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Related Agents

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-112552	1,2-Distearoyl-sn-glycerol		≥98.0%	Phase 3

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W100403	Choline tosylate	Inhibitor	99.41%	Unkown
HY-RS03519	DAG1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DAG1	RGD	RGD:621890
Bos taurus	DAG1	VGNC	VGNC:27871
Macaca mulatta	DAG1	VGNC	VGNC:71728
Felis catus	DAG1	VGNC	VGNC:102572
Canis familiaris	DAG1	VGNC	VGNC:39763
Mus musculus	DAG1	MGD	MGI:101864
Others	DAG1	NCBI