1. Gene
  2. DSP - desmoplakin Gene

DSP - desmoplakin Gene

Homo sapiens

Also known as DP; DCWHKTA

Gene ID: 1832 | Gene type: protein coding

About DSP

Cytogenetic location: 6p24.3 Genomic coordinates (GRCh38): 6:7,541,671-7,586,714 (from NCBI)

This gene has 7 transcripts (splice variants), 279 orthologues, 36 paralogues and is associated with 21 phenotypes. Biased expression in skin (RPKM 438.1), esophagus (RPKM 191.0) and 7 other tissues.

Summary

This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

DSP Products(4)

mRNA Protein Name
NM_001008844.3 NP_001008844.1 desmoplakin isoform II
NM_001319034.2 NP_001305963.1 desmoplakin isoform Ia
NM_001406591.1 NP_001393520.1 desmoplakin isoform 4
NM_004415.4 NP_004406.2 desmoplakin isoform I
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
10852826 GOA
enables protein kinase C binding IPI
IPI: Inferred from physical interaction
18474624 GOA
enables scaffold protein binding IPI
IPI: Inferred from physical interaction
10852826 GOA
Biological Process GO Annotation Evidence Reference Source
involved in bundle of His cell-Purkinje myocyte adhesion involved in cell communication IMP
IMP: Inferred from mutant phenotype
12373648 GOA
acts upstream of or within epithelial cell-cell adhesion IMP
IMP: Inferred from mutant phenotype
27892606 GOA
involved in regulation of heart rate by cardiac conduction IMP
IMP: Inferred from mutant phenotype
12373648 GOA
involved in regulation of ventricular cardiac muscle cell action potential IMP
IMP: Inferred from mutant phenotype
12373648 GOA
Cellular Component GO Annotation Evidence Reference Source
located in desmosome IDA
IDA: Inferred from direct assay
20859650 GOA
located in intercalated disc IDA
IDA: Inferred from direct assay
22781308 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
11790773 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

DSP Protein Structure

Plectin

Plectin: Plectin repeat (2048 - 2089)

Plectin

Plectin: Plectin repeat (2122 - 2165)

Plectin

Plectin: Plectin repeat (2253 - 2294)

Plectin

Plectin: Plectin repeat (2289 - 2333)

Plectin

Plectin: Plectin repeat (2365 - 2409)

Plectin

Plectin: Plectin repeat (2460 - 2500)

Plectin

Plectin: Plectin repeat (2648 - 2692)

Plectin

Plectin: Plectin repeat (2724 - 2767)

  • 0
  • 500
  • 1000
  • 1500
  • 2000
  • 2500
  • 2871 a.a.
Protein Preferred Names Protein Names

desmoplakin

250/210 kDa paraneoplastic pemphigus antigen

DSP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
DSP P15924 MAPRE1 Homo sapiens Q15691
PLA
25225338
Intra
DSP P15924 MAPRE1 Homo sapiens Q15691
IF
25225338
Intra
DSP P15924 FES Homo sapiens P07332
Anti Tag CoIP
25852190
Intra
DSP P15924 PKP1 Homo sapiens Q13835-2
Anti Bait CoIP
10852826
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DSP Proteins

Cat. No. Product Name Accession Purity
HY-P72176 DSP Protein, Human (His-SUMO) P15924 (C78-D300) ≥95%

Related Diseases

Diseases Alias
Skin Fragility-Woolly Hair Syndrome

Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

SFWHS

Skin Fragility Woolly Hair Syndrome

Skin Fragility-Woolly Hair-Palmoplantar Hyperkeratosis Syndrome

Skin Fragility, Woolly Hair Syndrome

Epidermolysis Bullosa, Lethal Acantholytic

Lethal Acantholytic Epidermolysis Bullosa

EBLA

Laeb

Lethal Acantholytic Erosive Disorder

Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Arrhythmogenic Right Ventricular Dysplasia 8

ARVD8

Arrhythmogenic Right Ventricular Cardiomyopathy 8

Arvc8

Familial Arrhythmogenic Right Ventricular Dysplasia 8

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 8

Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis

DCWHKTA

Dilated Cardiomyopathy With Woolly Hair, Keratoderma, And Tooth Agenesis

Cardiomyopathy, Dilated With Woolly Hair, Keratoderma, And Tooth Agenesis

Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma

Carvajal Syndrome

Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair

DCWHK

Dilated Cardiomyopathy With Woolly Hair And Keratoderma

Cardiomyopathy Dilated With Woolly Hair And Keratoderma

Kwwh Type Ii

Keratoderma With Woolly Hair Type Ii

Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome

Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome

Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome

Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome

Epidermolytic Palmoplantar Keratoderma Woolly Hair And Dilated Cardiomyopathy

Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy

Cardiomyopathy, Dilated With Woolly Hair And Keratoderma

Keratosis Palmoplantaris Striata Ii

Keratosis Palmoplantaris Striata 2

PPKS2

Kpps2

Striate Palmoplantar Keratoderma Ii

SPPK2

Keratoderma, Palmoplantar, Striate Form Ii

Keratoderma, Palmoplantar, Striate 2

Keratoderma Palmoplantar Striate Form Ii

Keratosis Palmoplantaris Striata, Type 2

Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

Familial Isolated Arvc

Familial Isolated Arvd

Familial Isolated Arrhythmogenic Right Ventricular Cardiomyopathy

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy

Familial Isolated Arrhythmogenic Ventricular Dysplasia

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

Erythrokeratodermia-Cardiomyopathy Syndrome

Ekc Syndrome

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

Striate Palmoplantar Keratoderma

Keratosis Palmoplantaris Striata

Keratosis Palmoplantaris Striata Et Areata

Keratosis Palmoplantaris Varians Of Wachters

Cardiomyopathy, Dilated, 1h

Dilated Cardiomyopathy 1h

Dilated Cardiomyopathy With Conduction Defect

CMD1H

Cardiomyopathy, Dilated, With Conduction Defect

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige

Sam Syndrome

Severe Dermatitis-Multiple Allergies-Metabolic Wasting Syndrome

EPKHE

Severe Dermatitis, Multiple Allergies, And Metabolic Wasting Syndrome

Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper Ige

Congenital Erythroderma-Hypotrichosis-Recurrent Infections-Multiple Food Allergies Syndrome

Cardiac Conduction Defect

Sudden Cardiac Death

Cardiac Conduction Defect, Susceptibility To

SCD

Cardiac Conduction Abnormality

Death Sudden Cardiac

Cardiac Conduction Disease

Conduction Disorder Of The Heart

Aortic Valve Disease 1

Aortic Valve Disease

Bicuspid Aortic Valve

Aortic Valve Disorder

AOVD1

Bav

Bicuspid Aortic Valve Disease

Familial Bicuspid Aortic Valve

Aortic Valve Calcification

Aovd

Aortic Valve, Bicuspid

Aortic Valve, Calcification Of

Aortic Stenosis, Calcific

Familial Bav

Calcific Aortic Stenosis

Calcification Of Aortic Valve

Abnormality Of The Aortic Valve

Aortic Valve Disease, Type 1

Aortic Valve Disease 2

Bicommissural Aortic Valve

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form

Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1

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

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Myocarditis

Myocardial Inflammation

Inflammatory Cardiomyopathy

Erythema Multiforme

Dermatostomatitis, Erythema Multiforme Type

Em

Erythema Multiforme Bullosum

Erythema Polymorphe, Erythema Multiforme Type

Febrile Mucocutaneous Syndrome

Herpes Iris, Erythema Multiforme Type

Stevens-Johnson Syndrome

Em - [Erythema Multiforme]

Cardiac Arrest

Cardiopulmonary Arrest

Circulatory Arrest

Heart Arrest

Pemphigus
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

Naxos Disease

Mal De Naxos

NXD

Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities

Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities

Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair

Keratosis Palmoplantaris With Arrythmogenic Cardiomyopathy

Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy

Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair

Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities

Kwwh Type I

Keratoderma With Woolly Hair Type I

Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy

Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy

Paraneoplastic Pemphigus
Pemphigus Erythematosus

Seborrheic Pemphigus

Senear-Usher Syndrome

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

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Arrhythmogenic Right Ventricular Dysplasia 9

ARVD9

Arrhythmogenic Right Ventricular Cardiomyopathy 9

Arvc9

Familial Arrhythmogenic Right Ventricular Dysplasia 9

Dysplasia, Arrhythmogenic Right Ventricular, Type 9

Perineurioma

Soft Tissue Perineurioma

Pemphigus Vulgaris, Familial

Pemphigus Vulgaris

Familial Pemphigus Vulgaris

Pemphigus

Bullous Pemphigoid

Benign Pemphigus

Senile Dermatitis Herpetiformis

Old Age Pemphigus

Parapemphigus

Pemphigoid

Pemphigoid Bullous

Pemphigoid, Bullous

Darier-White Disease

Keratosis Follicularis

Darier Disease

Darier'S Disease

DAR

DD

Darier White Disease

Darier Disease Acral Hemorrhagic Type

Darier Disease Segmental

Darier Disease, Acral Hemorrhagic Type

Darier Disease, Segmental

Benign Chronic Pemphigus

Hailey-Hailey Disease

Pemphigus, Benign Familial

Familial Benign Pemphigus

Benign Familial Pemphigus

Familial Benign Chronic Pemphigus

BCPM

HHD

Benign Chronic Familial Pemphigus Of Hailey-Hailey

Pemphigus, Chronic, Benign

Epidermolysis Bullosa

Acantholysis Bullosa

Eb

Hair Disease

Hair Diseases

Hair Anomaly

Hair Disorder

Hair Problems

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

Cryptogenic Fibrosing Alveolitis

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis

Palmoplantar Keratosis

Palmoplantar Keratoderma

Keratosis Palmaris Et Plantaris

Palmo-Plantar Keratodermas

Keratoderma, Palmoplantar

Keratoderma Palmoplantar

Keratoderma, Palmoplantar, Diffuse

Hyperkeratosis Of Palms And Soles

Palmoplantar Hyperkeratosis

Cardiomyopathy, Dilated, 1b

Cardiomyopathy, Familial Dilated, 1

Cardiomyopathy, Dilated 1b

CMD1B

Cmpd1

Cardiomyopathy, Familial Dilated

Fdc

Dilated Cardiomyopathy 1b

Familial Dilated Cardiomyopathy

Alopecia
Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Pemphigus Foliaceus

Pemphigus Foliaceous

Pf

Superficial Pemphigus

Epithelioid Neurofibroma
Pemphigoid
Diffuse Palmoplantar Keratoderma

Diffuse Palmoplantar Hyperkeratosis

Diffuse Ppk

Diffuse Keratosis Palmoplantaris

Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma

NEPPK

Tylosis

Unna-Thost Syndrome

Keratoderma, Palmoplantar, Diffuse

Ppkne

Keratoderma, Nonepidermolytic Palmoplantar

Diffuse Nonepidermolytic Palmomplantar Keratoderma

Thost-Unna Syndrome

Non-Epidermolytic Palmoplantar Keratoderma

Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type

Diffuse Palmoplantar Keratoderma, Bothnian Type

Krt1-Related Diffuse Nonepidermolytic Keratoderma

Krt1-Related Diffuse Neppk

Keratoderma, Palmoplantar, Non-Epidermolytic

Nonepidermolytic Unna-Thost Disease

Non-Epidermolytic Unna-Thost Disease

Keratoderma, Palmoplantar, Nonepidermolytic

Hyperkeratosis

Familial Woolly Hair Syndrome

Wooly Hair

Familial Wooly Hair Syndrome

Hereditary Woolly Hair Syndrome

Hereditary Wooly Hair Syndrome

Woolly Hair

Syndrome With Woolly Hair

Wooly Hair Syndrome

Thymoma

Primary Thymic Epithelial Neoplasm

Primary Thymic Epithelial Tumor

Thymus Neoplasms

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Microscopic Polyangiitis

Microscopic Polyarteritis

Mpa

Micropolyangiitis

Cardiac Sarcoidosis
Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

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

Iga Pemphigus
Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal

Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Arrhythmogenic Right Ventricular Dysplasia 12

ARVD12

Arrhythmogenic Right Ventricular Cardiomyopathy 12

Arvc12

Familial Arrhythmogenic Right Ventricular Dysplasia 12

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 12

Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Arrhythmogenic Right Ventricular Dysplasia 6

ARVD6

Arrhythmogenic Right Ventricular Cardiomyopathy 6

Arvc6

Familial Arrhythmogenic Right Ventricular Dysplasia 6

Arrhythmogenic Right Ventricular Dysplasia-6

Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Arrhythmogenic Right Ventricular Dysplasia 5

ARVD5

Arrhythmogenic Right Ventricular Cardiomyopathy 5

Arvc5

Familial Arrhythmogenic Right Ventricular Dysplasia 5

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 5

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Arrhythmogenic Right Ventricular Dysplasia 1

Uhl Anomaly

Arrhythmogenic Right Ventricular Cardiomyopathy 1

Arvc1

ARVD1

Cardiomyopathy Right Ventricular Dilated

Dysplasia, Arrhythmogenic Right Ventricular, Type 1

Left Bundle Branch Hemiblock

Left Bundle Branch Block

Left Bundle-Branch Block

Epidermolytic Hyperkeratosis

Bullous Congenital Ichthyosiform Erythroderma

Bullous Ichthyosiform Erythroderma

EHK

Bullous Erythroderma Ichthyosiformis Congenita Of Brocq

Bcie

Bie

Epidermolytic Ichthyosis

Ichthyosis Bullosa Of Siemens

Superficial Epidermolytic Ichthyosis

Hyperkeratosis, Epidermolytic

Congenital Bullous Ichthyosiform Erythroderma

Bullous Type Ichthyosis

Epidermolytic Palmoplantar Hyperkeratosis

Bullous Ichthyosiform Erythroderma Congenita

Bullous Erythroderma Ichthyosiforme

Sei

Epidermolytic Hyperkeratosis Late-Onset

Epidermolytic Hyperkeratosis, Late-Onset

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Arrhythmogenic Right Ventricular Dysplasia 2

ARVD2

Arrhythmogenic Right Ventricular Cardiomyopathy 2

Arvc2

Familial Arrhythmogenic Right Ventricular Dysplasia 2

Dysplasia, Arrhythmogenic Right Ventricular, Type 2

Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation

Epidermolysis Bullosa Simplex With Mottled Pigmentation

Ebsmp

Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering

Ebs-Mp

EBS2F

Ebs With Mottled Pigmentation

Epidermolysis Bullosa Simplex-Mp

Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering

Epidermolysis Bullosa Simplex, With Mottled Pigmentation

Punctate Palmoplantar Keratoderma

Punctate Palmoplantar Hyperkeratosis

Punctate Keratosis Palmoplantaris

Punctate Ppk

Palmoplantar Keratoderma, Epidermolytic

Epidermolytic Palmoplantar Keratoderma

EPPK

Keratosis Palmaris Et Plantaris Familiaris

Tylosis

Keratosis Of Greither

Diffuse Nonepidermolytic Palmoplantar Keratoderma

Keratoderma, Palmoplantar, Epidermolytic

Unna-Thost Palmoplantar Keratoderma

Epidermolytic Palmoplantar Keratoderma Of Voerner

Ppke

Keratoderma, Epidermolytic Palmoplantar

Palmoplantar Keratoderma, Vorner Type

Hyperkeratosis, Localized Epidermolytic

Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type

Epidermolytic Palmoplantar Keratoderma Of Vörner

Hyperkeratosis Palmoplantar Localized Epidermolytic

Diffuse Neppk

Ppk Diffusa Circumscripta

Thost-Unna Disease

Thost-Unna Palmoplantar Keratoderma

Diffuse Erythrodermic Palmoplantar Keratoderma, Voerner Type

Diffuse Erythrodermic Palmoplantar Keratoderma, Vorner Type

Epidermolytic Palmoplantar Keratoderma Of Vorner

Ehppk

Epidermolytic Unna-Thost Disease

Localized Epidermolytic Hyperkeratosis

Palmoplantar Keratoderma Vorner Type

Unilateral Palmoplantar Verrucous Nevus

UPVN

Keratoderma, Palmoplantar, Diffuse

Hyperkeratosis

Palmoplantar Keratoderma, Nonepidermolytic

Epidermolytic Palmoplantar Keratoderma Vorner Type

Type B Tylosis

Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas

Type A Tylosis

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Subcorneal Pustular Dermatosis

Subcorneal Pustular Dermatitis

Sneddon-Wilkinson Disease Or Syndrome

Pustulosis Subcornealis

Sneddon-Wilkinson Disease

Skin Diseases, Vesiculobullous

Vesiculobullous Skin Disease

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Arrhythmogenic Right Ventricular Dysplasia 11

ARVD11

Arrhythmogenic Right Ventricular Cardiomyopathy 11

Arvc11

Arrhythmogenic Right Ventricular Dysplasia 11 With Mild Palmoplantar Keratoderma And Woolly Hair

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, With Mild Palmoplantar Keratoderma And Woolly Hair

Familial Arrhythmogenic Right Ventricular Dysplasia 11

Arrhythmogenic Right Ventricular Dysplasia 11, Familial, And Mild Palmoplantar Keratoderma And Woolly Hair

ARVD11PK

Arvd And Mild Palmoplantar Keratoderma With Or Without Woolly Hair

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11

Right Bundle Branch Block

Right Bundle Branch Block With Left Posterior Fascicular Block

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

Meningioma, Familial

Meningioma

Familial Meningioma

Meningioma, Familial, Susceptibility To

Meningeal Neoplasm

Meningeal Neoplasms

Meningiomas

Meningioma, Nf2-Related, Somatic

Meningioma, Sis-Related

Meningothelial Cell Tumor

Neoplasm Of The Meninges

Primary Meningeal Tumor

Familial Multiple Meningioma

MNGMA

Meningioma, Benign, No Icd-O Subtype

Intracranial Meningioma

Meningothelial Cell Neoplasm

Supratentorial Meningioma

Primary Neoplasm Of Spinal Meninges

Benign Intracranial Meningioma

Benign Meningioma

Meningeal Tumours

Meningeal Sarcoma Of Unspecified Site

Meningothelial Sarcoma Of Unspecified Site

Intrinsic Cardiomyopathy
Acute Myocarditis
Epidermolysis Bullosa Simplex

Ebs

Epidermolysis Bullosa Intraepidermic

Epidermolytic Epidermolysis Bullosa

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

Supine Hypotensive Syndrome

Maternal Hypotension Syndrome

Antepartum Maternal Hypotension Syndrome

Postpartum Maternal Hypotension Syndrome

Maternal Hypotension Syndrome, Antepartum Condition Or Complication

Maternal Hypotension Syndrome, Postpartum Condition Or Complication

Maternal Hypotension Syndrome, Unspecified Trimester

Pachyonychia Congenita 1

Pachyonychia Congenita

Jadassohn-Lewandowsky Syndrome

Pachyonychia Congenita Syndrome

PC1

Pachyonychia Congenita, Jadassohn-Lewandowsky Type

Congenital Pachyonychia

Pachyonychia Congenita, Type 1

Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly

Jadassohn-Lewandowsky Syndrome, Formerly

Jackson-Lawler Type Pachyonychia Congenita

Pachyonychia Congenita Type 1

Jackson-Lawler Syndrome

Jadassohn-Lewandowski Syndrome

Pc

Pachyonychia Congenita Jackson-Lawler Type

Pachyonychia Congenita Jadassohn-Lewandowsky Type

Pachyonychia Congenita Jackson Lawler Type

Pc-1

Pachyonychia Congenita, Jadassohn Lewandowsky Type

Pachyonychia Congenita, Type 2

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction 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

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt

Catecholamine-Induced Polymorphic Ventricular Tachycardia

Familial Polymorphic Ventricular Tachycardia

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Stress-Induced Polymorphic Ventricular Tachycardia

Bidirectional Tachycardia Induced By Catecholamine

Double Tachycardia Induced By Catecholamines

Polymorphic Catecholergic Ventricular Tachycardia

Syncopal Paroxysmal Tachycardia

Bidirectional Tachycardia Induced By Catecholamines

Fpvt

Bidirectional Ventricular Tachycardia Induced By Catecholamine

Polymorphic Ventricular Tachycardia Induced By Catecholamines

Ventricular Tachycardia, Catecholaminergic Polymorphic

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Familial Ventricular Tachycardia

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

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
Felis catus DSP VGNC VGNC:61640
Mus musculus DSP MGD MGI:109611
Canis familiaris DSP VGNC VGNC:40110
Bos taurus DSP VGNC VGNC:28225
Macaca mulatta DSP VGNC VGNC:72004
Rattus norvegicus DSP RGD RGD:1305794
Others DSP NCBI