ANO5 - anoctamin 5 Gene

Also Known as GDD1; LGMD2L; LGMDR12; TMEM16E

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 203859

About ANO5

Cytogenetic location: 11p14.3 Genomic coordinates (GRCh38): 11:22,192,473-22,283,357 (from NCBI)

This gene has 20 transcripts (splice variants), 284 orthologues, 10 paralogues and is associated with 8 phenotypes. Broad expression in heart (RPKM 10.4), brain (RPKM 3.4) and 19 other tissues.

Summary

This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated Chloride Channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

ANO5 Products (4)

mRNA Protein Name
NM_001142649.2 NP_001136121.1 anoctamin-5 isoform b
NM_001410963.1 NP_001397892.1 anoctamin-5 isoform c
NM_001410964.1 NP_001397893.1 anoctamin-5 isoform d
NM_213599.3 NP_998764.1 anoctamin-5 isoform a

ANO5 Protein Structure

Anoctamin

Anoctamin: Calcium-activated chloride channel (292 - 869)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 913 a.a.
Protein Preferred Names Protein Names

anoctamin-5

  • gnathodiaphyseal dysplasia 1 protein

Related Diseases

Diseases Alias
Gnathodiaphyseal Dysplasia
  • GDD

  • Osteogenesis Imperfecta With Unusual Skeletal Lesions

  • Gnathodiaphyseal Sclerosis

  • Osteogenesis Imperfecta, Levin Type

  • Levin Syndrome 2

  • Dysplasia, Gnathodiaphyseal

Miyoshi Muscular Dystrophy 3
  • MMD3

  • Miyoshi Myopathy 3

  • Distal Anoctaminopathy

  • Miyoshi Muscular Dystrophy Type 3

  • Dystrophy, Muscular, Miyoshi, Type 3

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
  • Muscular Dystrophy, Limb-Girdle, Type 2l

  • Lgmd2l

  • LGMDR12

  • Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12

  • Anoctamin-5-Related Lgmd R12

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l

  • Lgmd Type 2l

  • Limb-Girdle Muscular Dystrophy Type 2l

  • Limb-Girdle Muscular Dystrophy 2l

  • Limb-Girdle Muscular Dystrophy, Type 2l

  • Dystrophy, Muscular, Limb-Girdle, Type 2l

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
  • Lgmd2l

  • Muscular Dystrophy, Limb-Girdle, Type 2l

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

Creatine Phosphokinase, Elevated Serum
  • Hyperckemia, Idiopathic

  • Cpk, Elevated Serum

  • Hyperckmia

  • HYPCK

Fructose Intolerance, Hereditary
  • Hereditary Fructose Intolerance

  • Fructose Intolerance

  • Fructose-1-Phosphate Aldolase Deficiency

  • Fructose-1,6-Bisphosphate Aldolase B Deficiency

  • Aldolase B Deficiency

  • Fructosemia

  • Aldob Deficiency

  • Hereditary Fructose Intolerance Syndrome

  • HFI

  • Fructosaemia

  • Hereditary Fructose-1-Phosphate Aldolase Deficiency

  • Fructose Aldolase B Deficiency

  • Fructose-1,6-Biphosphate Aldolase Deficiency

  • Hereditary Fructosemia

  • Fructosemia, Hereditary

  • Hereditary Fructosaemia

  • Fructose-Biphosphate Aldolase B Deficiency

  • Fructose Intolerance Of Newborn

  • Aldb - [Aldolase B] Deficiency

  • Deficiency Of Fructose-Bisphosphate Aldolase

Myopathy
  • Muscular Diseases

  • Myopathies

Autosomal Recessive Limb-Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Polycystic Kidney Disease
  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant

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

Miyoshi Muscular Dystrophy
  • Distal Myopathy

  • Distal Muscular Dystrophy

  • Miyoshi Myopathy

  • Distal Myopathies

  • Dystrophy, Muscular, Miyoshi

  • Myopathy, Distal

  • Distal Muscular Dystrophies

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

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

Spinocerebellar Ataxia, Autosomal Recessive 10
  • SCAR10

  • Autosomal Recessive Spinocerebellar Ataxia 10

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

  • Autosomal Recessive Spinocerebellar Ataxia Type 10

  • Spinocerebellar Ataxia, Autosomal Recessive, 10

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 10

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

Myopathy, Distal, 3
  • MPD3

  • Distal Muscular Dystrophy 3

  • Distal Myopathy Type 3

  • Myopathy, Distal 3

  • Distal Myopathy 3

  • Finnish Upper Limb-Onset Distal Myopathy

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

Myopathy, Distal, 4
  • Distal Myopathy With Posterior Leg And Anterior Hand Involvement

  • MPD4

  • Williams Distal Myopathy

  • Distal Muscular Dystrophy 4

  • Distal Abd-Filaminopathy

  • Distal Myopathy 4

  • Myopathy, Distal, Type 4

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
  • Lgmd2x

  • Muscular Dystrophy, Limb-Girdle, Type 2x

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

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

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

Autosomal Dominant Limb-Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Autosomal Dominant

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

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w
  • Lgmd2w

  • Muscular Dystrophy, Limb-Girdle, Type 2w

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 2g
  • Lgmd2g

  • Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency

  • Muscular Dystrophy, Limb-Girdle, Type 2g

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-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

Scott Syndrome
  • SCTS

  • Bdplt7

  • Prothrombin Consumption Deficiency

  • Bleeding Abnormality Due To Deficiency Of Platelet Binding Of Factor X

  • Bleeding Disorder, Platelet-Type, 7

  • Prothrombin Conversion Defect, Familial

  • Prothrombin Consumption Inhibitor, Familial

  • Bleeding Abnormality Due To Deficiency Of Platelet Biding Of Factor X

  • Familial Prothrombin Consumption Inhibitor

  • Familial Prothrombin Conversion Defect

  • Platelet-Type Bleeding Disorder 7

  • Platelet Factor X Receptor Deficiency

  • Bleeding Disorder Platelet-Type 7

  • Prothrombin Consumption Inhibitor Familial

  • Prothrombin Conversion Defect Familial

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-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

Spinal Muscular Atrophy, Type Ii
  • SMA2

  • Sma Ii

  • Muscular Atrophy, Spinal, Intermediate Type

  • Muscular Atrophy, Spinal, Infantile Chronic Form

  • Intermediate Spinal Muscular Atrophy

  • Spinal Muscular Atrophy Type Ii

  • Spinal Muscular Atrophy-2

  • Spinal Muscular Atrophy 2

  • Spinal Muscular Atrophy Type 2

  • Dubowitz Disease

  • Proximal Spinal Muscular Atrophy Type 2

  • Sma Type 2

  • Sma Type Ii

  • Sma-Ii

  • Spinal Muscular Atrophy Infantile Chronic Form

  • Spinal Muscular Atrophy Intermediate Type

  • Spinal Muscular Atrophies Of Childhood

  • Atrophy, Muscular, Spinal, Type Ii

  • Muscular Atrophy, Spinal, Type Ii

Ossifying Fibroma
  • Peripheral Ossifying Fibroma

  • Fibro-Osteoma

  • Fibroma Ossifying

  • Fibroma, Ossifying

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
  • Lgmd2h

  • Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency

  • Muscular Dystrophy Hutterite Type

  • Sarcotubular Myopathy

  • Limb-Girdle Muscular Dystrophy Type 2h

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
  • Lgmd2j

  • Muscular Dystrophy, Limb-Girdle, Type 2j

Myotonia Congenita
  • Congenital Myotonia, Autosomal Dominant Form

  • Congenital Myotonia

  • Thomsen And Becker Disease

  • Thomsen Disease

  • Thomsen'S Disease

  • Generalized Myotonia Of Thomsen

  • Congenital Myotonic Muscular Dystrophy

  • Myotonia Congenita Nos

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

Myopathy, Myofibrillar, 9, With Early Respiratory Failure
  • Hereditary Myopathy With Early Respiratory Failure

  • Hmerf

  • Myopathy, Proximal, With Early Respiratory Muscle Involvement

  • Edstrom Myopathy

  • Mfm-Titinopathy

  • MFM9

  • Mprm

  • Hereditary Inclusion Body Myopathy With Early Respiratory Failure

  • Hibm-Erf

  • Myofibrillar Myopathy-Titinopathy

  • Myofibrillar Myopathy With Early Respiratory Failure

  • Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant

  • Myofibrillar Myopathy 9

  • Myofibrillar Myopathy 9 With Early Respiratory Failure

  • Autosomal Dominant Distal Myopathy With Early Respiratory Failure

  • Proximal Myopathy With Early Respiratory Muscle Involvement

  • Hereditary Proximal Myopathy With Early Respiratory Failure

  • Admerf

  • Edström Myopathy

  • Hmerf-Erf

Glycogen Storage Disease Ii
  • Pompe Disease

  • Glycogen Storage Disease Type Ii

  • Acid Maltase Deficiency

  • Gsd Ii

  • Gaa Deficiency

  • Alpha-1,4-Glucosidase Deficiency

  • Glycogenosis Type Ii

  • GSD2

  • Acid Alpha-Glucosidase Deficiency

  • Amd

  • Glycogen Storage Disease, Type Ii

  • Pompe'S Disease

  • Glycogen Storage Disease Type 2

  • Cardiomegalia Glycogenica Diffusa

  • Acid Maltase Deficiency Disease

  • Deficiency Of Alpha-Glucosidase

  • Glycogenosis, Generalized, Cardiac Form

  • Deficiency Of Glucoamylase

  • Deficiency Of Maltase

  • Generalized Glycogenosis

  • Glycogenosis, Type 2

  • Lysosomal Alpha-1,4-Glucosidase Deficiency

  • Glucosidase Acid-1,4-Alpha Deficiency

  • Aglucosidase Alfa

  • Deficiency Of Lysosomal Alpha-Glucosidase

  • Glycogen Storage Disease Due To Acid Maltase Deficiency

  • Alpha-1,4-Glucosidase Acid Deficiency

  • Gsd Due To Acid Maltase Deficiency

  • Gsd Type 2

  • Gsd Type Ii

  • Glycogenosis Due To Acid Maltase Deficiency

  • Glycogenosis Type 2

  • Glycogen Storage Disease 2

  • Cardiomegalia Glycogenica

  • Glycogenosis Generalized Cardiac Form

  • Glycogenosis Ii

  • Gsd-Ii

  • Storage Disease, Glycogen, Type Ii

  • Generalized Glycogen Storage Disease Of Infants

  • Cardiac Form Of Generalized Glycogenosis

Cenani-Lenz Syndactyly Syndrome
  • Syndactyly Type 7

  • Cenani Syndactylism

  • Cenani-Lenz Syndactyly

  • CLSS

  • Syndactyly Cenani Lenz Type

  • Cenani-Lenz Syndrome

  • Syndactyly, Type Vii

  • Cenani-Lenz Type Syndactyly

  • Cenani Syndactyly

  • Syndactyly Type Vii

Tibial Muscular Dystrophy
  • Tmd

  • Udd Myopathy

  • Distal Titinopathy

  • Finnish Tibial Muscular Dystrophy

  • Tardive Tibial Muscular Dystrophy

  • Udd Type Distal Myopathy

  • Udd Distal Myopathy

  • Udd-Markesbery Muscular Dystrophy

  • Distal Myopathy, Udd Type

  • Distal Myopathies

  • Tibial Muscular Dystrophy, Tardive

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]

Spinal Muscular Atrophy, Type Iii
  • SMA3

  • Juvenile Spinal Muscular Atrophy

  • Kugelberg-Welander Disease

  • Sma Iii

  • Kugelberg-Welander Syndrome

  • Kws

  • Muscular Atrophy, Juvenile

  • Spinal Muscular Atrophy, Mild Childhood And Adolescent Form

  • Spinal Muscular Atrophy-3

  • Spinal Muscular Atrophy Type 3

  • Spinal Muscular Atrophy, Type Iii, Modifier Of

  • Type Iii Spinal Muscular Atrophy

  • Sma 3

  • Proximal Spinal Muscular Atrophy Type 3

  • Sma Type 3

  • Sma Type Iii

  • Sma-Iii

  • Spinal Muscular Atrophy 3

  • Spinal Muscular Atrophy Mild Childhood And Adolescent Form

  • Spinal Muscular Atrophy Type Iii

  • Wohlfart-Kugelberg-Welander Disease

  • Atrophy, Muscular, Spinal, Type Iii

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

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

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

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 ANO5 MGD MGI:3576659
Rattus norvegicus ANO5 RGD RGD:1564265
Macaca mulatta ANO5 VGNC VGNC:69720
Bos taurus ANO5 VGNC VGNC:25954
Felis catus ANO5 VGNC VGNC:59830
Canis familiaris ANO5 VGNC VGNC:37928
Others ANO5 NCBI