TGM1 - transglutaminase 1 Gene

Also Known as LI; KTG; LI1; TGK; ICR2; ARCI1; TGASE

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7051

About TGM1

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:24,249,114-24,263,177 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 322 orthologues, 8 paralogues and is associated with 7 phenotypes. Restricted expression toward esophagus (RPKM 291.1).

Summary

The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]

TGM1 Products (1)

mRNA Protein Name
NM_000359.3 NP_000350.1 protein-glutamine gamma-glutamyltransferase K
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
7592852 GOA
enables protein-glutamine gamma-glutamyltransferase activity IDA
IDA: Inferred from direct assay
7961731 GOA
Biological Process GO Annotation Evidence References Source
involved in keratinocyte differentiation IDA
IDA: Inferred from direct assay
8824274 GOA
involved in peptide cross-linking IDA
IDA: Inferred from direct assay
9722562 GOA
involved in positive regulation of cell cycle IMP
IMP: Inferred from mutant phenotype
26220141 GOA
involved in positive regulation of keratinocyte proliferation IMP
IMP: Inferred from mutant phenotype
26220141 GOA
Cellular Component GO Annotation Evidence References Source
located in membrane IDA
IDA: Inferred from direct assay
8824274 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

TGM1 Protein Structure

Transglut_N

Transglut_N: Transglutaminase family (111 - 228)

Transglut_core

Transglut_core: Transglutaminase-like superfamily (367 - 460)

Transglut_C

Transglut_C: Transglutaminase family, C-terminal ig like domain (579 - 683)

Transglut_C

Transglut_C: Transglutaminase family, C-terminal ig like domain (691 - 787)

  • 0
  • 200
  • 400
  • 600
  • 817 a.a.
Protein Preferred Names Protein Names

protein-glutamine gamma-glutamyltransferase K

  • K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase

TGM1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TGM1 P22735 LCE1B Homo sapiens Q5T7P3 32296183
Intra
TGM1 P22735 LCE4A Homo sapiens Q5TA78 32296183
Intra
TGM1 P22735 VASN Homo sapiens Q6EMK4 32296183
Intra
TGM1 P22735 NUBP2 Homo sapiens Q9Y5Y2 32296183
Intra
TGM1 P22735 C1QTNF1 Homo sapiens Q9BXJ1-2 32296183
Intra
TGM1 P22735 C1QTNF1 Homo sapiens Q9BXJ1-2 32296183
Intra
TGM1 P22735 C1QTNF1 Homo sapiens Q9BXJ1-2 32296183
Intra
TGM1 P22735 LCE1E Homo sapiens Q5T753 32296183
Intra
TGM1 P22735 ACADL Homo sapiens P28330 32296183
Intra
TGM1 P22735 JOSD1 Homo sapiens Q15040 32296183
Intra
TGM1 P22735 MYPOP Homo sapiens Q86VE0 32296183
Intra
TGM1 P22735 KRTAP5-9 Homo sapiens P26371 32296183
Intra
TGM1 P22735 VSTM4 Homo sapiens Q8IW00 32296183
Intra
TGM1 P22735 DOCK2 Homo sapiens Q92608 32296183
Intra
TGM1 P22735 SULT4A1 Homo sapiens Q9BR01 32296183
Intra
TGM1 P22735 NECTIN2 Homo sapiens Q92692-2 32296183
Intra
TGM1 P22735 CRCT1 Homo sapiens Q9UGL9 32296183
Intra
TGM1 P22735 TRAPPC14 Homo sapiens Q8WVR3 32296183
Intra
TGM1 P22735 KRTAP4-12 Homo sapiens Q9BQ66 32296183
Intra
TGM1 P22735 CNNM3 Homo sapiens Q8NE01 32296183
Intra
TGM1 P22735 IGSF8 Homo sapiens Q969P0 32296183
Intra
TGM1 P22735 LCE3A Homo sapiens Q5TA76 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Ichthyosis, Congenital, Autosomal Recessive 1
  • Collodion Fetus

  • Autosomal Recessive Congenital Ichthyosis 1

  • ARCI1

  • Ichthyosis Congenita

  • Lamellar Exfoliation Of Newborn

  • Desquamation Of Newborn

  • Ichthyosis Congenita Ii

  • Shcb

  • Icr2

  • Bathing Suit Ichthyosis

  • Li1

  • Self-Healing Collodion Baby

  • Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution

  • Collodion Baby, Self-Healing

  • Ichthyosis, Lamellar, 1, Formerly

  • Li1, Formerly

  • Ichthyosis Lamellar 1

  • Lamellar Ichthyosis, Type 1

  • Bsi

  • Autosomal Recessive Congenital Ichthyosis 1 With Bathing Suit Distribution

  • Autosomal Recessive Congenital Ichthyosis Tgm1-Related

  • Lamellar Ichthyosis 1

  • Non-Erythrodermic Ichthyosis

  • Ichthyosis, Congenital, Autosomal Recessive, Type 1

  • Congenital Ichthyosis

Autosomal Recessive Congenital Ichthyosis
  • Lamellar Ichthyosis

  • Congenital Ichthyosiform Erythroderma

  • Li

  • Congenital Nonbullous Ichthyosiform Erythroderma

  • Arci

  • Congenital Lamellar Ichthyosis

  • Nonbullous Congenital Ichthyosiform Erythroderma

  • Cie

  • Congenital Non-Bullous Ichthyosiform Erythroderma

  • Erythrodermic Ichthyosis

  • Nbcie

  • Ncie

  • Non-Bullous Congenital Ichthyosiform Erythroderma

  • Collodion Baby

  • Ichthyosis, Lamellar

  • Non Bullous Congenital Ichthyosiform Erythroderma

  • Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

  • Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

  • Collodion Baby Syndrome

  • Ichthyoses, Lamellar

  • Nbie

  • Nonbullous Ichthyosiform Erythroderma

  • Classic Lamellar Ichthyosis

  • Ichthyosiform Erythroderma Nonbullous Congenital

  • Ichthyosiform Erythroderma Congenital

  • Ichthyosis, Congenital, Autosomal Recessive

  • Ichthyosiform Erythroderma, Congenital

  • Collodion Fetus

  • Non-Bullous Ichthyosiform Erythroderma

Ichthyosis
  • Ichthyoses

  • Non-Syndromic Ichthyosis

  • Congenital Ichthyosis

Acral Self-Healing Collodion Baby
  • Acral Shcb

Skin Disease
  • Skin Diseases

  • Genodermatosis

  • Abnormality Of The Skin

  • Skin Diseases, Genetic

  • Skin And Subcutaneous Tissue Disease

  • Dermatologic Disorders

Self-Improving Collodion Baby
  • Self-Healing Collodion Baby

  • Shcb

  • Sici

  • Self-Improving Congenital Ichthyosis

Ectropion
  • Ectropion Of Eyelid

  • Everted Margin

  • Eversion Of The Eyelid

  • Eyelashes Turned Out

  • Eyelid Everted

  • Eyelid Turned Out

  • Unspecified Ectropion Of Unspecified Eye

Netherton Syndrome
  • NETH

  • Ns

  • Netherton Disease

  • Comel-Netherton Syndrome

  • Erythroderma, Ichthyosiform, With Hypotrichosis And Hyper-Ige

  • Bamboo Hair Syndrome

  • Ichthyosis Linearis Circumflexa

  • Ichthyosiform Erythroderma With Hypotrichosis And Hyper-Ige

  • Ilc

  • Nts

  • N Syndrome

Ichthyosis, Congenital, Autosomal Recessive 4b
  • Harlequin Ichthyosis

  • Autosomal Recessive Congenital Ichthyosis 4b

  • Hi

  • Harlequin Fetus

  • ARCI4B

  • Ichthyosis Congenita, Harlequin Fetus Type

  • Harlequin Type Ichthyosis

  • 'Harlequin Fetus'

  • Harlequin Type Ichthyosis Congenita

  • Harlequin Type Ichthyosis Fetalis

  • Harlequin Baby Syndrome

  • Ichthyosis Congenita, Harlequin Type

  • Ichthyosis Fetalis, Harlequin Type

  • Ichthyosis Congenita Harlequin Fetus Type

  • Ichthyosis, Harlequin

  • Ichthyosis, Congenital, Autosomal Recessive, Type 4b

Ichthyosis, X-Linked
  • X-Linked Ichthyosis

  • Steroid Sulfatase Deficiency

  • Placental Steroid Sulfatase Deficiency

  • Steroid Sulfatase Deficiency Disease

  • XLI

  • Sts Deficiency

  • Ssdd

  • X-Linked Recessive Ichthyosis

  • X-Linked Ichthyosis With Steryl-Sulphatase Deficiency

  • X-Linked Placental Steryl-Sulphatase Deficiency

  • Ssd

  • X Linked Ichthyosis

  • Recessive X-Linked Ichthyosis

  • Rxli

  • Syndromic Recessive X-Linked Ichthyosis

  • Recessive X-Linked Ichthyosis With Extracutaneous Manifestations

  • Syndromic Rxli

  • X-Linked Ichthyosis Syndrome

  • IXL

  • Ichthyosis X-Linked

  • Sex-Linked Ichthyosis

  • X-Linked Ichthyosis With Steryl-Sulfatase Deficiency

Balanitis Xerotica Obliterans
  • Penile Lichen Sclerosus

  • Penile Leukoplakia

Vohwinkel Syndrome
  • Mutilating Keratoderma

  • Keratoderma Hereditarium Mutilans

  • Khm

  • VOWNKL

  • Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes

  • Mutilating Keratoderma Of Vohwinkel

  • Mutilating Keratoderma Plus Deafness

  • Ppk Mutilans And Deafness

  • Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes

  • Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes

  • Palmoplantar Keratoderma Mutilans

  • Palmoplantar Keratoderma Mutilans Vohwinkel

  • Ppk Mutilans Vohwinkel

  • Mutilating Keratoderma Plus Hearing Loss

  • Ppk Mutilans And Hearing Loss

Elastosis Perforans Serpiginosa
  • EPS

  • Elastoma Intrapapillare Perforans Verruciformis

  • Miescher Elastoma

Cicatricial Ectropion
Balanitis
Syphilitic Encephalitis
Severe Cutaneous Adverse Reaction
  • Stevens-Johnson Syndrome

  • Toxic Epidermal Necrolysis

  • Drug-Induced Stevens Johnson Syndrome

  • Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum

  • Susceptibility To Severe Cutaneous Adverse Reaction

  • Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis

  • Lyell'S Syndrome

  • Lyell Syndrome

  • Severe Cutaneous Adverse Reaction, Susceptibility To

  • Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility To

  • Hypersensitivity Syndrome, Carbamazepine-Induced

  • Stevens-Johnson Syndrome, Susceptibility To

  • Toxic Epidermal Necrolysis, Susceptibility To

  • Sjs/Ten

  • Susceptibility To Severe Cutaneous Adverse Reaction Ity To

  • Mycoplasma-Induced Stevens Johnson Syndrome

  • Dermatostomatitis, Stevens Johnson Type

  • Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum

  • Sjs-Ten

  • Toxic Epidermolysis

  • SJS

  • Dermatostomatitis Stevens Johnson Type

  • Ten

  • Sjs/Ten - [Stevens-Johnson Syndrome And Toxic Epidermal Necrolysis]

  • Ten - [Toxic Epidermal Necrolysis]

Keratosis
  • Actinic Keratosis

  • Hyperkeratosis

Ichthyosis, Congenital, Autosomal Recessive 4a
  • Ichthyosis Congenita Iib

  • Icr2b

  • Autosomal Recessive Congenital Ichthyosis 4a

  • ARCI4A

  • Lamellar Ichthyosis 2

  • Li2

  • Ichthyosis, Lamellar, 2, Formerly

  • Li2, Formerly

  • Ichthyosis Lamellar 2

  • Lamellar Ichthyosis, Type 2

  • Ichthyosis, Lamellar 2

  • Ichthyosis, Congenital, Autosomal Recessive, Type 4a

Eyelid Disease
  • Eyelid Diseases

  • Eyelid Disorders

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

Dermatitis Herpetiformis
  • Duhring'S Disease

  • Duhring-Brocq Disease

  • Dermatosis Herpetiformis

  • Brocq-Duhring Disease

  • Dh

  • Duhring Brocq Disease

  • Dh - [Dermatitis Herpetiformis]

Lipoma Of Colon
  • Colonic Lipoma

  • Colon Lipoma

Large Intestine Lipoma
  • Lipoma Of Large Intestine

  • Colorectal Lipoma

Congenital Hypothyroidism
  • Cretinism

  • Neonatal Hypothyroidism

  • Ch

  • Cht

  • Congenital Myxedema

  • Myxedema, Congenital

  • Endemic Cretinism

  • Congenital Iodine-Deficiency Syndrome

  • Fetal Iodine Deficiency Syndrome

  • Congenital Iodine-Deficiency Hypothyroidism Nos

Peeling Skin Syndrome
  • Deciduous Skin

  • Familial Continuous Skin Peeling Syndrome

  • Idiopathic Deciduous Skin

  • Keratosis Exfoliativa Congenita

  • Pss

  • Peeling Skin Disease

  • Skin Peeling Syndrome

  • Familial Continuous Skin Peeling

  • Keratolysis Exfoliativa Congenita

  • Exfoliation Syndrome

  • Keratolysis Exfoliativa

Trichothiodystrophy 1, Photosensitive
  • TTD1

  • Tay Syndrome

  • Trichothiodystrophy With Congenital Ichthyosis

  • Photosensitive Trichothiodystrophy

  • Ibids Syndrome

  • Ttdp

  • Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation

  • Ichthyosis, Congenital, With Trichothiodystrophy

  • Pibids Syndrome

  • Photosensitive Trichothiodystrophy 1

  • Trichothiodystrophy, Photosensitive

  • Sulfur-Deficient Brittle Hair Syndrome

  • Ttd-P

  • Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature

  • Trichothiodystrophy Photosensitive

  • Trichothiodystrophy, Type 1

  • Tricho-Thiodystrophy Disorder

  • Trichothiodystrophy Syndromes

  • Amish Brittle Hair Brain Syndrome

Psoriasis
Ichthyosis Vulgaris
  • Ichthyosis Simplex

  • Dominant Congenital Ichthyosiform Erythroderma

  • Common Ichthyosis

  • Fish Scale Disease

  • VI

  • Ichthyoses

  • Congenital Ichthyosis

Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
  • Kid Syndrome

  • Keratitis-Ichthyosis-Deafness Syndrome

  • Senter Syndrome

  • KIDAD

  • Kid Syndrome, Autosomal Dominant

  • Autosomal Dominant Keratitis-Ichthyosis-Deafness Syndrome

  • Ichthyosis Hystrix Rheydt Type

  • Kid/Hid Syndrome

  • Keratitis-Ichthyosis-Deafness/Hystrix-Like Ichthyosis-Deafness Syndrome

  • Keratitis Ichthyosis And Deafness Syndrome

  • Autosomal Dominant Kid Syndrome

  • Keratitis, Ichthyosis, And Deafness Syndrome

  • Ichthyosiform Erythroderma, Corneal Involvement, And Deafness

  • Keratitis, Ichthyosis, And Deafness

  • Keratitis-Ichthyosis-Hearing Loss/Hystrix-Like Ichthyosis-Hearing Loss Syndrome

X-Linked Chondrodysplasia Punctata 2
  • Happle Syndrome

  • Cdpx2

  • Conradi-Hünermann Syndrome

  • Chondrodysplasia Punctata 2, X-Linked

  • X-Linked Dominant Chondrodysplasia Punctata

  • Conradi-Hunermann Syndrome

  • Conradi-Hünermann-Happle Syndrome

  • Cdpxd

  • Cpxd

  • Chondrodystrophia Calcificans Congenita

  • Conradi-Hunermann-Happle Syndrome

  • X-Linked Chondrodysplasia Punctata Type 2

  • Chondrodysplasia Punctata, X-Linked Dominant Type

Ichthyosis, Congenital, Autosomal Recessive 7
  • ARCI7

  • Autosomal Recessive Congenital Ichthyosis 7

Spastic Paraplegia 17, Autosomal Dominant
  • Silver Syndrome

  • SPG17

  • Silver Spastic Paraplegia Syndrome

  • Spastic Paraplegia With Amyotrophy Of Hands And Feet

  • Hereditary Spastic Paraplegia 17

  • Autosomal Dominant Spastic Paraplegia Type 17

  • Spastic Paraplegia 17

  • Spastic Paraplegia-Amyotrophy Of Hands And Feet

  • Autosomal Dominant Spastic Paraplegia 17

  • Dhmn5b

  • Distal Hereditary Motor Neuropathy Type 5b

  • Paraplegia, Spastic, Autosomal Dominant, Type 17

  • Russell-Silver Syndrome

  • Neuronopathy, Distal Hereditary Motor, Type Vb

Holocarboxylase Synthetase Deficiency
  • HLCS DEFICIENCY

  • Early-Onset Multiple Carboxylase Deficiency

  • Biotin- Ligase Deficiency

  • Neonatal Multiple Carboxylase Deficiency

  • Multiple Carboxylase Deficiency, Neonatal Form

  • Multiple Carboxylase Deficiency, Early Onset

  • Multiple Carboxylase Deficiency - Neonatal Onset

  • Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency

  • Early-Onset Combined Carboxylase Deficiency

  • Infantile Multiple Carboxylase Deficiency

  • Biotin-Responsive Mcd

  • Biotin-Responsive Multiple Carboxylase Deficiency

  • Early-Onset Mcd

  • Mcd Neonatal Form

Silver-Russell Syndrome 1
  • Silver-Russell Syndrome

  • Russell-Silver Syndrome

  • Silver-Russell Dwarfism

  • Rss

  • SRS1

  • Srs

  • Silver Russell Dwarfism

  • Russell Silver Syndrome

  • Silver Russell Syndrome

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
  • Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans

  • KFSD

Kallmann Syndrome
  • Hypogonadism With Anosmia

  • Kallman'S Syndrome

  • Anosmic Hypogonadism

  • Anosmic Idiopathic Hypogonadotropic Hypogonadism

  • Hypogonadotropic Hypogonadism And Anosmia

  • Hypogonadotropic Hypogonadism-Anosmia Syndrome

  • Olfacto-Genital Pathological Sequence

  • Familial Hypogonadism With Anosmia

  • Kallman Syndrome

  • Dysplasia Olfactogenitalis Of De Morsier

  • Kallmann'S Syndrome

  • Congenital Hypogonadotropic Hypogonadism With Anosmia

Fraser Syndrome 1
  • Fraser Syndrome

  • Cryptophthalmos With Other Malformations

  • Cryptophthalmos Syndrome

  • FRASRS1

  • Cryptophthalmos-Syndactyly Syndrome

  • Fraser-Francois Syndrome

  • Cyclopism

  • Meyer-Schwickerath'S Syndrome

  • Ulrich-Feichtiger Syndrome

  • Cryptophthalmos Syndactyly Syndrome

  • Fraser'S Syndrome

  • Meyer-Schwickerath Syndrome

  • Ullrich-Feichtiger Syndrome

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
  • Image Syndrome

  • IMAGE

  • Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome

  • Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

  • Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities

  • Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies

  • Image Anomaly

  • Image Association

  • Fetal Growth Retardation

  • Pyle Metaphyseal Dysplasia

Omphalocele
  • Omphalocoele

  • Congenital Omphalocele

  • Exomphalos

  • Exumbilication

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

Beckwith-Wiedemann Syndrome
  • Wiedemann-Beckwith Syndrome

  • BWS

  • Exomphalos-Macroglossia-Gigantism Syndrome

  • Emg Syndrome

  • Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

  • Emg Abnormality

  • Wbs

  • Exomphalos Macroglossia Gigantism Syndrome

  • Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

  • Macroglossia Exomphalos Gigantism

Erythrokeratodermia Variabilis Et Progressiva 1
  • Erythrokeratodermia Variabilis

  • Erythrokeratodermia Variabilis Et Progressiva

  • Greither Disease

  • Ekv

  • Ekvp

  • PSEK

  • Erythrokeratodermia Variabilis With Erythema Gyratum Repens

  • Keratosis Palmoplantaris Transgrediens Et Progrediens

  • Transgrediens Et Progrediens Palmoplantar Keratoderma

  • EKVP1

  • Erythrokeratodermia, Progressive Symmetric

  • Erythrokeratodermia Figurata, Congenital Familial, In Plaques

  • Keratoderma Palmoplantaris Transgrediens

  • Keratosis Extremitatum Hereditaria Progrediens

  • Erythrokeratodermia Variabilis, Mendes Da Costa Type

  • Progressive Symmetric Erythrokeratodermia

  • Erythrokeratodermia Figurata Variabilis

  • Greither'S Disease

  • Ekv-P

  • Erythrokeratodermia Variabilis Of Mendes Da Costa

  • Progressive Symmetrical Erythrokeratoderma Of Gottron

  • Progressive Diffuse Ppk

  • Progressive Diffuse Palmoplantar Keratoderma

  • Transgrediens Et Progrediens Ppk

  • Darier-Gottron Disease

  • Erythrokeratodermia Progressiva Symmetrica

  • Progressive Symmetric Erythrokeratodermia, Gottron Type

  • Congenital Familial Erythrokeratodermia Figurata In Plaques

  • Erythrokeratodermia Progressive Symmetric

  • Erythrokeratodermia Variabilis Mendes Da Costa Type

Huntington Disease
  • Huntington'S Disease

  • Huntington Chorea

  • Huntington'S Chorea

  • HD

  • Huntington Chronic Progressive Hereditary Chorea

  • Juvenile Huntington Disease

  • Chronic Progressive Chorea

  • Chronic Progressive Hereditary Chorea

  • Hc - [Huntington Chorea]

  • Hereditary Chorea

  • Progressive Hereditary Chorea

Physical Disorder
  • Physical Illness

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
Canis familiaris TGM1 VGNC VGNC:47315
Felis catus TGM1 VGNC VGNC:66141
Bos taurus TGM1 VGNC VGNC:35809
Rattus norvegicus TGM1 RGD RGD:61838
Mus musculus TGM1 MGD MGI:98730
Macaca mulatta TGM1 VGNC VGNC:99267
Others TGM1 NCBI