SYNE1 - spectrin repeat containing nuclear envelope protein 1 Gene

Also Known as 8B; AMC3; AMCM; CPG2; ARCA1; EDMD4; KASH1; MYNE1; Nesp1; SCAR8; C6orf98; dJ45H2.2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23345

About SYNE1

Cytogenetic location: 6q25.2 Genomic coordinates (GRCh38): 6:152,121,687-152,637,362 (from NCBI)

This gene has 51 transcripts (splice variants), 254 orthologues, 36 paralogues and is associated with 7 phenotypes. Ubiquitous expression in ovary (RPKM 11.9), bone marrow (RPKM 8.2) and 24 other tissues.

Summary

This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

SYNE1 Products (4)

mRNA Protein Name
NM_001347701.2 NP_001334630.1 nesprin-1 isoform 3
NM_001347702.2 NP_001334631.1 nesprin-1 isoform 4 (nesprin-1 alpha 2)
NM_033071.5 NP_149062.2 nesprin-1 isoform 2
NM_182961.4 NP_892006.3 nesprin-1 isoform 1 (nesprin-1 giant or enaptin)
Molecular Function GO Annotation Evidence References Source
enables actin binding IDA
IDA: Inferred from direct assay
12408964 GOA
enables cytoskeleton-nuclear membrane anchor activity IDA
IDA: Inferred from direct assay
18396275 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
24862572 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
12163176 GOA
enables lamin binding IPI
IPI: Inferred from physical interaction
11801724 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12163176 GOA
Biological Process GO Annotation Evidence References Source
involved in Golgi organization IDA
IDA: Inferred from direct assay
12808039 GOA
involved in muscle cell differentiation IDA
IDA: Inferred from direct assay
11792814 GOA
involved in nuclear matrix anchoring at nuclear membrane IDA
IDA: Inferred from direct assay
11801724 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
12808039 GOA
located in P-body IDA
IDA: Inferred from direct assay
24862572 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
11792814 GOA
part of meiotic nuclear membrane microtubule tethering complex IDA
IDA: Inferred from direct assay
18396275 GOA
located in membrane IDA
IDA: Inferred from direct assay
11792814 GOA
located in nuclear envelope IDA
IDA: Inferred from direct assay
11792814 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
24862572 GOA
located in postsynaptic membrane IDA
IDA: Inferred from direct assay
10878022 GOA
located in sarcomere IDA
IDA: Inferred from direct assay
12408964 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

SYNE1 Protein Structure

CH

CH: Calponin homology (CH) domain (31 - 134)

CH

CH: Calponin homology (CH) domain (181 - 282)

Spectrin

Spectrin: Spectrin repeat (3175 - 3276)

Spectrin

Spectrin: Spectrin repeat (3817 - 3913)

Spectrin

Spectrin: Spectrin repeat (5739 - 5831)

Spectrin

Spectrin: Spectrin repeat (7024 - 7118)

Spectrin

Spectrin: Spectrin repeat (7140 - 7230)

Spectrin

Spectrin: Spectrin repeat (7353 - 7452)

Spectrin

Spectrin: Spectrin repeat (7783 - 7882)

Spectrin

Spectrin: Spectrin repeat (7887 - 7996)

Spectrin

Spectrin: Spectrin repeat (8110 - 8210)

Spectrin

Spectrin: Spectrin repeat (8440 - 8547)

KASH

KASH: Nuclear envelope localisation domain (8740 - 8796)

  • 0
  • 1400
  • 2800
  • 4200
  • 5600
  • 7000
  • 8400
  • 8797 a.a.
Protein Preferred Names Protein Names

nesprin-1

  • CPG2 full length

SYNE1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SYNE1 Q8NF91 SUN2 Homo sapiens Q9UH99 22632968
Intra
SYNE1 Q8NF91 SUN2 Homo sapiens Q9UH99 22632968
Intra
SYNE1 Q8NF91 SUN2 Homo sapiens Q9UH99 33058875
Intra
SYNE1 Q8NF91 SUN1 Homo sapiens O94901 22632968
Intra
SYNE1 Q8NF91 DISC1 Homo sapiens Q9NRI5 12812986
Intra
SYNE1 Q8NF91 DISC1 Homo sapiens Q9NRI5
Y2H
12812986
Cross: Cross-species interaction Intra: Intraspecies interaction

SYNE1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81624 Nesprin1 Antibody (YA1369) WB, IHC-F, IHC-P, ICC/IF Human, Mouse, Rat
HY-P81624A Nesprin1 Antibody (YA1369)(PBS only) WB, IHC-F, IHC-P, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
Spinocerebellar Ataxia, Autosomal Recessive 8
  • Arca1

  • Autosomal Recessive Cerebellar Ataxia Type 1

  • SCAR8

  • Autosomal Recessive Spinocerebellar Ataxia 8

  • Autosomal Recessive Ataxia, Beauce Type

  • Recessive Ataxia Of Beauce

  • Syne1-Related Autosomal Recessive Cerebellar Ataxia

  • Ataxia, Recessive, Of Beauce

  • Cerebellar Ataxia, Autosomal Recessive, Type 1

  • Spinocerebellar Ataxia Autosomal Recessive 8

  • Autosomal Recessive Ataxia Beauce Type

  • Spinocerebellar Ataxia, Autosomal Recessive, 8

  • Ataxia Recessive Of Beauce

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 8

Arthrogryposis Multiplex Congenita 3, Myogenic Type
  • Arthrogryposis Multiplex Congenita, Myogenic Type

  • AMC3

  • Amcm

  • Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita

  • Autosomal Recessive Myogenic Amc

  • Syne1-Related Amc

  • Syne1-Related Arthrogryposis Multiplex Congenita

Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
  • EDMD4

  • Emery-Dreifuss Muscular Dystrophy 4 With Variable Features

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4

  • Emd4

  • Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant

  • Emery-Dreifuss Muscular Dystrophy 4

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
  • EDMD2

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

  • Emd2

  • Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant

  • Scapuloilioperoneal Atrophy With Cardiopathy

  • Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant

  • Hauptmann-Thannhauser Muscular Dystrophy

  • Cardiomyopathy, Dilated, With Quadriceps Myopathy

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

  • Muscular Dystrophy, Limb-Girdle, Type 1b

  • Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly

  • Lgmd1b, Formerly

  • Muscular Dystrophy, Proximal, Type 1b, Formerly

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

  • Lgmd1b

  • Limb-Girdle Muscular Dystrophy 1b

  • Muscular Dystrophy, Proximal, Type 1b

  • Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Juvenile Amyotrophic Lateral Sclerosis
  • Jals

  • Juvenile Charcot Disease

  • Juvenile Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis, Juvenile

Spastic Ataxia
  • Spax

  • Ataxia, Spastic

Autosomal Recessive Cerebellar Ataxia
  • Arca

Arthrogryposis Multiplex Congenita-3
Emery-Dreifuss Muscular Dystrophy
  • Edmd

  • Emery-Dreifuss Syndrome

  • Muscular Dystrophy, Emery-Dreifuss

  • Humeroperoneal Neuromuscular Disease

  • Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

  • Scapuloperoneal Syndrome, X-Linked

  • Benign Scapuloperoneal Muscular Dystrophy With Early Contractures

  • Muscular Dystrophy, Emery-Dreifuss Type

  • Muscular Dystrophy Emery-Dreifuss

  • Dystrophy, Muscular, Emery-Dreifuss

  • Emd - [Emery-Dreifuss Muscular Dystrophy]

Cardiomyopathy, Dilated, 1a
  • Dilated Cardiomyopathy 1a

  • Cdcd1

  • CMD1A

  • Cardiomyopathy, Familial Idiopathic

  • Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation

  • Cardiomyopathy, Dilated, With Conduction Defect 1

  • Cardiomyopathy, Idiopathic Dilated

  • Cardiomyopathy, Congestive

  • Dilated Cardiomyopathy With Conduction Defect 1

  • Cardiomyopathy Dilated With Conduction Defect Type 1

  • Cardiomyopathy, Dilated 1a

  • Cardiomyopathy Dilated With Conduction Defect 1

  • Cardiomyopathy, Dilated, Type 1a

Cardiomyopathy, Dilated, 1h
  • Dilated Cardiomyopathy 1h

  • Dilated Cardiomyopathy With Conduction Defect

  • CMD1H

  • Cardiomyopathy, Dilated, With Conduction Defect

Spinocerebellar Ataxia 8
  • Spinocerebellar Ataxia Type 8

  • SCA8

  • Ataxia, Spinocerebellar, Type 8

Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
  • EDMD5

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5

  • Emd5

  • Dystrophy, Muscular, Emery-Dreifuss, Type 5, Autosomal Dominant

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

Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
  • EDMD7

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7

  • Emery-Dreifuss Muscular Dystrophy 7, Ad

  • Emd7

  • Dystrophy, Muscular, Emery-Dreifuss, Type 7, Autosomal Dominant

Aceruloplasminemia
  • Cerebellar Ataxia

  • Hypoceruloplasminemia

  • Hemosiderosis, Systemic, Due To Aceruloplasminemia

  • Familial Apoceruloplasmin Deficiency

  • Hereditary Ceruloplasmin Deficiency

  • Deficiency Of Ferroxidase

  • Hypoceruloplasminemia, Hereditary

  • Ceruloplasmin Deficiency

  • Systemic Hemosiderosis Due To Aceruloplasminemia

  • ACERULOP

Emery-Dreifuss Muscular Dystrophy 1, X-Linked
  • EDMD1

  • Emd1

  • Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

  • X-Linked Emery-Dreifuss Muscular Dystrophy 1

  • Humeroperoneal Neuromuscular Disease

  • X-Linked Emery-Dreifuss Muscular Dystrophy

  • Scapuloperoneal Syndrome, X-Linked, Formerly

  • Humeroperoneal Neuromuscular Disease, Formerly

  • Scapuloperoneal Syndrome, X-Linked

  • Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures

  • Scapuloperoneal Syndrome X-Linked

  • X-Edmd

  • Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked

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

Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
  • EDMD3

  • Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3

  • Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

  • Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive

  • Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive

  • Emery-Dreifuss Muscular Dystrophy 3

Colon Adenocarcinoma
  • Adenocarcinoma Of Colon

  • Adenocarcinoma Of The Colon

  • Colonic Adenocarcinoma

Axonal Neuropathy
Myopathy, X-Linked, With Postural Muscle Atrophy
  • Emery-Dreifuss Muscular Dystrophy 6, X-Linked

  • XMPMA

  • X-Linked Myopathy With Postural Muscle Atrophy

  • X-Linked Emery-Dreifuss Muscular Dystrophy 6

  • EDMD6

  • Emd6

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

Charcot-Marie-Tooth Disease, Axonal, Type 2b1
  • Charcot-Marie-Tooth Disease Type 2b1

  • Charcot-Marie-Tooth Disease, Type 2b1

  • CMT2B1

  • Autosomal Recessive Axonal Cmt4c1

  • Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1

  • Charcot-Marie-Tooth Disease Neuronal Type 2b1

  • Charcot-Marie-Tooth Neuropathy Type 2b1

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2b1

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1

  • Charcot-Marie-Tooth Neuropathy, Type 2b1

  • Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1

  • Ar-Cmt2b1

  • Charcot-Marie-Tooth Disease 2b1

  • Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1

  • Charcot-Marie-Tooth Disease Axonal Type 2b1

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
  • DSMA4

  • Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset

  • Distal Spinal Muscular Atrophy Type 4

  • Autosomal Recessive Distal Spinal Muscular Atrophy Type 4

  • Distal Spinal Muscular Atrophy, Autosomal Recessive, 4

  • Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 4

Motor Neuron Disease
  • Anterior Horn Cell Disease

  • Motor Neuron Diseases

  • Mnd - [Motor Neurone Disease]

  • Lou Gehrig Disease

  • Creeping Palsy

  • Creeping Paralysis

  • Bulbar Motor Neuron Disease

  • Bulbar Syndrome

  • Anterior Horn Cell Disorder

  • Hereditary Motor Neuron Disease

Spinocerebellar Ataxia, Autosomal Recessive 14
  • Autosomal Recessive Spinocerebellar Ataxia 14

  • SCAR14

  • Sparca1

  • Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1

  • Spectrin-Associated Autosomal Recessive Cerebellar Ataxia

  • Ataxie Spinocerebelleuse A Debut Infantile Avec Retard Psychomoteur

  • Autosomal Recessive Spinocerebellar Ataxia Type 14

  • Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome

  • Sparca

  • Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1

  • Spinocerebellar Ataxia, Autosomal Recessive, 14

  • Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 14

Multiple Pterygium Syndrome, Escobar Variant
  • Multiple Pterygium Syndrome

  • Pterygium

  • Escobar Syndrome

  • EVMPS

  • Pterygium Syndrome

  • Autosomal Recessive Multiple Pterygium Syndrome

  • Pterygium Colli Syndrome

  • Pterygium Universale

  • Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome

  • Escobar Variant Multiple Pterygium Syndrome

  • Multiple Pterygium Syndrome, Nonlethal Type

  • Surfer'S Eye

  • Multiple Pterygium Syndrome Escobar Type

  • Multiple Pterygium Syndrome Nonlethal Type

  • Familial Pterygium Syndrome

  • Pterygium Colli

  • Multiple Pterygium Syndrome, Non-Lethal Type

  • Nonlethal Type Multiple Pterygium Syndrome

  • Pterygium Syndrome, Multiple, Escobar Type

  • Pterygium Of Eye

  • Web Eye

Buschke-Ollendorff Syndrome
  • BOS

  • Dermatoosteopoikilosis

  • Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis

  • Osteopathia Condensans Disseminata

  • Dermatofibrosis Lenticularis Disseminata

  • Disseminated Dermatofibrosis With Osteopoikilosis

  • Dermatofibrosis, Disseminated, With Osteopoikilosis

  • Osteopoikilosis With Or Without Melorheostosis

  • Dermatofibrosis, Disseminated With Osteopoikilosis

  • Dermatofibrosis Disseminata Lenticularis

  • Isolated Osteopoikilosis

  • Osteopoikilosis, Isolated

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]

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

Bipolar Disorder
  • Bipolar Depression

  • Manic Disorder

  • Depression, Bipolar

  • Bipolar Disorder Manic Phase

  • Depressive-Manic Psych.

  • Manic Bipolar Affective Disorder

  • Manic Bipolar I Disorder

  • Manic Depression

  • Manic Depressive Disorder

  • Mixed Bipolar Disorder

  • Bipolar Affective Disorder

  • Bipolar Affective Psychosis

  • Bipolar Spectrum Disorder

  • Manic Depressive Illness

  • Depression Bipolar

  • Bipolar Disorder, Mixed

  • Major Affective Disorder

  • Major Affective Disorder 1

  • Major Affective Disorder 2

Pelger-Huet Anomaly
  • PHA

  • Pelger-Huët Anomaly

  • Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities

  • Pelger Huet Anomaly

  • Pelger-Huet Nuclear Anomaly

Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
  • Aoa1

  • Ataxia-Telangiectasia-Like Disorder

  • EAOH

  • Eoca-Ha

  • Ataxia With Oculomotor Apraxia Type 1

  • Ataxia-Oculomotor Apraxia 1

  • Ataxia-Oculomotor Apraxia Syndrome

  • AOA

  • Ataxia-Telangiectasia-Like Syndrome

  • Ataxia-Oculomotor Apraxia Type 1

  • Ataxia With Oculomotor Apraxia

  • Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia

  • Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia

  • Early-Onset Cerebellar Ataxia With Hypoalbuminemia

  • Adult Onset Ataxia With Oculomotor Apraxia

  • Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia

  • Scan2

  • Scar1

  • Spinocerebellar Ataxia With Axonal Neuropathy Type 2

  • Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1

  • Atld

  • Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia

  • Cerebellar Ataxia Early-Onset With Hypoalbuminemia

  • Ataxia-Oculomotor Apraxia

  • Spinocerebellar Ataxia, Autosomal Recessive 1

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Myopathy
  • Muscular Diseases

  • Myopathies

Hereditary Ataxia
  • Sca

  • Spinocerebellar Ataxia

  • Ataxias Hereditary

  • Ataxias, Hereditary

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

Autosomal Dominant Cerebellar Ataxia
  • Spinocerebellar Ataxia

  • Adca

  • Pierre Marie Cerebellar Ataxia

  • Ataxia, Spinocerebellar

  • Sca

  • Autosomal Dominant Spinocerebellar Ataxia

  • Spinocerebellar Ataxias

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