TYR - tyrosinase Gene

Also Known as ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7299

About TYR

Cytogenetic location: 11q14.3 Genomic coordinates (GRCh38): 11:89,177,875-89,295,759 (from NCBI)

This gene has 3 transcripts (splice variants), 266 orthologues, 2 paralogues and is associated with 9 phenotypes. Restricted expression toward skin (RPKM 11.8).

Summary

The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both Tyrosine Hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]

TYR Products (1)

mRNA Protein Name
NM_000372.5 NP_000363.1 tyrosinase precursor
Molecular Function GO Annotation Evidence References Source
enables copper ion binding IMP
IMP: Inferred from mutant phenotype
11092760 GOA
enables identical protein binding IDA
IDA: Inferred from direct assay
28842328 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16162817 GOA
enables tyrosinase activity IDA
IDA: Inferred from direct assay
11092760 GOA
Biological Process GO Annotation Evidence References Source
involved in melanin biosynthetic process IDA
IDA: Inferred from direct assay
8126111 GOA
involved in response to blue light IDA
IDA: Inferred from direct assay
28842328 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
11092760 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
11092760 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

TYR Protein Structure

Tyrosinase

Tyrosinase: Common central domain of tyrosinase (172 - 402)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 529 a.a.
Protein Preferred Names Protein Names

tyrosinase

  • LB24-AB

TYR Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TYR P14679 GPR143 Homo sapiens P51810 27720922
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TYR Proteins

Cat. No. Product Name Accession Purity
HY-P71792 TYR Protein, Human (P.pastoris, His) P14679 (H19-V377) ≥ 85%, as determined by reducing SDS-PAGE.
HY-P79018 TYR Protein, Human (HEK293, His) P14679-1 (H19-V377) ≥ 90%, as determined by reducing SDS-PAGE.

TYR Antibodies

Cat. No. Product Name Application Reactivity
HY-P82777 Tyrosinase Antibody (YA2522) WB, IHC-P, ICC/IF Human
HY-P85966 Tyrosinase Antibody (YA5658) IHC-P, WB, ICC/IF, ELISA Human, Mouse,
HY-P86053 Tyrosinase Antibody (YA5745) IHC-P, ICC/IF, ELISA Human

Related Diseases

Diseases Alias
Albinism, Oculocutaneous, Type Ia
  • Oculocutaneous Albinism Type 1

  • OCA1A

  • Oca1

  • Oculocutaneous Albinism, Tyrosinase-Negative

  • Atn

  • Tyrosinase-Negative Oculocutaneous Albinism

  • Albinism I

  • Oculocutaneous Albinism Type Ia

  • Oculocutaneous Albinism Type 1a

  • Oculocutaneous Albinism, Type I

  • Albinism 1

  • Oculocutaneous Albinism, Tyrosinase Negative

  • Albinism, Oculocutaneous, 1a

  • Albinism Oculocutaneous Ia

  • Oca-1a

  • Oca-Ia

  • Oculocutaneous Albinism Tyrosinase Negative

  • Albinism, Oculocutaneous, Type I

Albinism, Oculocutaneous, Type Ib
  • OCA1B

  • Oculocutaneous Albinism Type 1b

  • Albinism, Yellow Mutant Type

  • Yellow Albinism

  • Oculocutaneous Albinism Type Ib

  • Temperature-Sensitive Oculocutaneous Albinism Type 1

  • Oculocutaneous Albinism, Type Ib

  • Yellow Mutant Albinism

  • Oca1-Ts

  • Ts Oca Type 1

  • Oculocutaneous Albinism, Amish Type

  • Platinum Oculocutaneous Albinism

  • Yellow Oculocutaneous Albinism

  • Albinism, Oculocutaneous, 1b

  • Albinism Yellow Mutant Type

  • Oca-Ib

  • Oca-Its

  • Oculocutaneous Albinism Type I Temperature-Sensitive

  • Albinism, Oculocutaneous, Type I, Temperature-Sensitive

  • Minimal Pigment Oculocutaneous Albinism

Skin/Hair/Eye Pigmentation, Variation In, 3
  • Skin/Hair/Eye Pigmentation 3, Blue/Green Eyes

  • SHEP3

  • Skin/Hair/Eye Pigmentation 3, Light/Dark Skin

  • Skin/Hair/Eye Pigmentation 3, Blue/Green Eye Color

  • Eye Color 1

  • Eycl1

  • Eye Color, Green/Blue

  • Gey

  • Skin/Hair/Eye Pigmentation 3, Light/Dark/Freckling Skin

  • Melanoma, Cutaneous Malignant, Susceptibility To, 8

  • Melanoma, Cutaneous Malignant 8

  • Skin/Hair/Eye Pigmentation 3, Freckling

Albinism
Oculocutaneous Albinism
  • Albinism, Oculocutaneous

  • Oca

  • Albinism Oculocutaneous

  • Oca - [Oculocutaneous Albinism]

Ocular Albinism
  • Albinism, Ocular

  • Oa

  • Xloa

  • Albinism Ocular

Strabismus
  • Strabismus, Susceptibility To

  • Strabismus, Susceptibility To, 1

  • Strabismus 1

Albinism, Ocular, With Late-Onset Sensorineural Deafness
  • Ocular Albinism With Sensorineural Deafness

  • OASD

  • Deafness And Ocular Albinism

  • Ocular Albinism With Late-Onset Sensorineural Deafness

  • Albinism, Ocular, With Sensorineural Deafness

  • Autosomal Recessive Waardenburg Syndrome Type 2 With Ocular Albinism

  • Digenic Waardenburg Syndrome/Albinism

  • Digenic Waardenburg Syndrome/Ocular Albinism

  • Ws2-Oa

  • Albinism Ocular Late Onset Sensorineural Deafness

  • Ocular Albinism With Late-Onset Sensorineural Hearing Loss

  • Waardenburg Syndrome/Ocular Albinism, Digenic

  • Waardenburg Syndrome/Albinism, Digenic

  • Ocular Albinism And Sensorineural Deafness

Optic Nerve Disease
  • Optic Neuropathy

  • Disorder Of The Second Nerve

  • Optic Nerve Disorder

  • Optic Nerve

  • Abnormality Of The Optic Nerve

  • Optic Nerve Disorders

  • Neuropathy, Optic

  • Disorder Of The Optic Nerve

Hypopigmentation Of The Skin
Minimal Pigment Oculocutaneous Albinism Type 1
  • Mp Oca Type 1

  • Oca1-Mp

Myopia
  • Near-Sightedness

  • Short-Sightedness

  • Nearsightedness

  • Nearsighted

  • Near Vision

  • Close Sighted

  • Myopic

  • Short-Sighted

  • Near Sighted

Skin Disease
  • Skin Diseases

  • Genodermatosis

  • Abnormality Of The Skin

  • Skin Diseases, Genetic

  • Skin And Subcutaneous Tissue Disease

  • Dermatologic Disorders

Amelanotic Melanoma
  • Melanoma, Amelanotic

  • Melanoma Amelanotic

  • Amelanotic Skin Melanoma

Melanoma, Cutaneous Malignant 8
  • Melanoma, Cutaneous Malignant, Susceptibility To, 8

  • CMM8

  • Melanoma And Renal Cell Carcinoma

  • Melanoma And Renal Cell Carcinoma, Susceptibility To

  • Mitf-Related Melanoma And Renal Cell Carcinoma Predisposition Syndrome

  • Cutaneous Malignant Melanoma 8

  • Susceptibility To Melanoma And Renal Cell Carcinoma

  • Melanoma, Cutaneous, Malignant, Susceptibility To, Type 8

Pigmentation Disease
  • Pigmentation Disorders

  • Skin Pigmentation Disorder

Chediak-Higashi Syndrome
  • CHS

  • Chédiak-Higashi Syndrome

  • Chediak - Steinbrinck Anomaly

  • Chediak Higashi Syndrome

  • Chediak-Steinbrinck-Higashi Syndrome

  • Oculocutaneous Albinism With Leukocyte Defect

  • Chediak-Higashi Disease

  • Chediak-Higashi-Steinbrink Syndrome

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
  • Vitiligo

  • VAMAS1

  • Slev1

  • Vtlg

  • Systemic Lupus Erythematosus, Vitiligo-Related

  • Vitiligo-Associated Multiple Autoimmune Disease 1

  • Systemic Lupus Erythematosus Vitiligo-Related

Waardenburg Syndrome, Type 2e
  • Waardenburg Syndrome Type 2

  • Waardenburg Syndrome Type 2e

  • WS2E

  • Waardenburg Syndrome, Type 2e, With Or Without Neurologic Involvement

  • Waardenburg Syndrome, Type Iie

  • Hypogonadotropic Hypogonadism With Anosmia And Deafness With Or Without Hypopigmentation

  • Waardenburg Syndrome Type 2e With Or Without Neurologic Involvement

  • Waardenburg Syndrome Type Iie

  • Hypogonadotropic Hypogonadism With Anosmia And Deafness, With Or Without Hypopigmentation

  • Ws2e, With Or Without Neurologic Involvement

  • Ws2e With Or Without Neurological Involvement

  • Ws 2

  • Ws Type 2

  • Ws2

  • Waardenburg Syndrome Type Ii

  • Waardenburg Syndrome 2e

  • Kallmann Syndrome And Deafness With Or Without Hypopigmentation

  • Ws2e With Or Without Neurologic Involvement

  • Waardenburg Syndrome Type 2e, Without Neurologic Involvement

  • Ws-2

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Angiomyolipoma
  • Angiomyolipoma Of Kidney

Dowling-Degos Disease 1
  • Reticular Pigment Anomaly Of Flexures

  • DDD1

  • Ddd

  • Hyperpigmentation

  • Dowling-Degos Disease

Hermansky-Pudlak Syndrome
  • Hps

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

  • Hermanski-Pudlak Syndrome

  • Hermansky Pudlak Syndrome

  • Platelet Storage Pool Deficiency

Vogt-Koyanagi-Harada Disease
  • Uveomeningoencephalitic Syndrome

  • Uveomenigitic Syndrome

  • Vogt-Koyanagi-Harada Syndrome

  • Harada'S Disease

  • Vogt-Koyanagi Syndrome

  • Vkh Disease

  • Vkh Syndrome

  • Vkh

Microphthalmia
  • Microphthalmos

  • Isolated Anophthalmia-Microphthalmia Syndrome

  • Isolated Microphthalmia-Anophthalmia-Coloboma

  • Simple Microphthalmos

  • Clinical Anophthalmia

  • Isolated Anophthalmia - Microphthalmia

  • Isolated Pure Microphthalmia

  • Mac Spectrum

  • Microphthalmia-Anophthalmia-Coloboma Spectrum

  • Primitive Anophthalmia

  • Globe Of Eye Small

  • Small Eyeball

  • Hypoplasia Of Eye

  • Isolated Nanophthalmos

  • Rudimentary Eye

  • Dysplasia Of Eye

Waardenburg'S Syndrome
  • Waardenburg Syndrome

  • Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome

  • Van Der Hoeve Halbertsona Waardenburg Syndrome

  • Waardenburg Shah Syndrome

  • Waardenburg, Types I And/Or Ii

  • Mende Syndrome

  • Waardenburgs Syndrome

  • Waardenburg Syndrome, Type 4a

Skin Carcinoma
  • Skin Cancer

  • Carcinoma Of Skin

  • Ca - Skin Cancer

  • Cancer Of Skin

  • Malignant Neoplasm Of Skin

  • Melanoma And Non-Melanoma Skin Cancer

  • Skin Cancers

  • Cancer, Skin

Melanoma In Congenital Melanocytic Nevus
  • Malignant Melanoma In Congenital Melanocytic Nevus

  • Melanocytic Nevi

  • Nevi Melanocytic

Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
  • Homocystinuria With Or Without Response To Pyridoxine

  • Cystathionine Beta-Synthase Deficiency

  • Cbs Deficiency

  • Homocystinuria, B6-Responsive And Nonresponsive Types

  • Hyperhomocysteinemia, Thrombotic, Cbs-Related

  • Thrombosis, Hyperhomocysteinemic

  • Homocystinuria Due To Cbs Deficiency

  • Classic Homocystinuria

  • Homocystinuria Due To Cystathionine Beta-Synthase

  • CBSD

  • Hyperhomocysteinemia Thrombotic Cbs-Related

  • Cystathionine Beta-Synthase Deficiency Disease

Clear Cell Sarcoma
  • Sarcoma, Clear Cell

  • Adult Soft Part Clear Cell Sarcoma

  • Clear Cell Sarcoma Of Soft Parts

  • Malignant Melanoma Of Soft Parts

  • Malignant Melanoma Of Soft Tissues

  • Melanoma, Malignant, Of Soft Parts

  • Sarcoma Clear Cell

Diffuse Meningeal Melanocytosis
  • Diffuse Melanocytosis

  • Diffuse Melanosis

Acute Contagious Conjunctivitis
  • Pink Eye

  • Contagious Opthalmia

  • Pinkeye

  • Conjunctivitis

  • Keratoconjunctivitis Due To Mycoplasma Conjunctivae

Albinism, Oculocutaneous, Type Ii
  • OCA2

  • Oculocutaneous Albinism Type 2

  • Oculocutaneous Albinism Type Ii

  • Albinoidism

  • Tyrosinase-Positive Oculocutaneous Albinism

  • Brown Oculocutaneous Albinism

  • Oculocutaneous Albinism, Tyrosinase-Positive

  • Albinism Ii

  • Albinism, Brown Oculocutaneous

  • Oculocutaneous Albinism, Type Ii, Modifier Of

  • Oculocutaneous Albinism, Type Ii

  • Albinism, Oculocutaneous, Type Ii, Modifier Of

  • Albinism 2

  • Albinism, Oculocutaneous, Type 2

  • Oculocutaneous Albinism Tyrosinase Positive

  • Oculocutaneous Albinism, Tyrosinase Positive

  • Albinism, Oculocutaneous, 2

  • Boca

  • Oca-2

  • Oculocutaneous Albinism Tyrosinase-Positive

Albinism, Oculocutaneous, Type Iv
  • OCA4

  • Oculocutaneous Albinism Type 4

  • Oculocutaneous Albinism, Type Iv

  • Oculocutaneous Albinism Type Iv

  • Albinism, Oculocutaneous, 4

Melanoacanthoma
Malignant Spindle Cell Melanoma
  • Spindle Cell Melanoma

  • Desmoplastic Melanoma

  • Spindle Cell Malignant Melanoma

  • Spitzoid Malignant Melanoma

Melanoma, Uveal
  • Uveal Melanoma

  • Choroidal Melanoma

  • Melanoma Of Uvea

  • Iris Melanoma

  • Malignant Melanoma Of Choroid

  • Malignant Melanoma Of Iris

Ochronosis
Albinism, Oculocutaneous, Type Iii
  • Rufous Oculocutaneous Albinism

  • Oculocutaneous Albinism Type 3

  • OCA3

  • Roca

  • Xanthism

  • Oculocutaneous Albinism Type Iii

  • Albinism Iii

  • Oculocutaneous Albinism, Type Iii

  • Albinism 3

  • Albinism, Oculocutaneous, Type 3

  • Rufous Oca

  • Red Oculocutaneous Albinism

  • Xanthous Oculocutaneous Albinism

  • Albinism, Oculocutaneous, 3

  • Oca-Iii

Acute Conjunctivitis
Neurofibroma
  • Neurofibromas

  • Neurofibromatoses

  • Nerve Sheath Tumors

Lymphangioleiomyomatosis
  • Lymphangiomyomatosis

  • LAM

  • Lung Lymphangioleiomyomatosis

  • Pulmonary Lymphangioleiomyomatosis

  • Lymphangioleiomyomatosis, Somatic

  • Lymphangio-Myomatosis

Lentigines
  • Lentigo

Homocystinuria
  • Cystathionine Beta Synthase Deficiency

  • Homocysteinemia

  • Cbs Deficiency

  • Cystathionine Synthase Deficiency

  • Cystathionine Beta-Synthase Deficiency Disease

Tietz Albinism-Deafness Syndrome
  • Tietz Syndrome

  • Albinism-Deafness Of Tietz

  • Hypopigmentation/Deafness Of Tietz

  • Tietze'S Syndrome

  • TADS

  • Costochondral Junction Syndrome

  • Costochondritis

  • Tietze Syndrome

  • Hypopigmentation-Deafness Syndrome

  • Costalchondritis

  • Slipping Rib Syndrome

  • Tietze'S Disease

  • Chondropathia Tuberosa

  • Albinism And Complete Nerve Deafness

  • Tietz'S Syndrome

  • Hypopigmentation-Hearing Loss Syndrome

  • Costal Chondritis

  • Abnormality Of The Costochondral Junction

Methylmalonic Aciduria And Homocystinuria, Cblf Type
  • Methylmalonic Aciduria And Homocystinuria Type Cblf

  • MAHCF

  • Methylmalonic Aciduria Due To Vitamin B12-Release Defect

  • Vitamin B12 Lysosomal Release Defect

  • Cobalamin F Disease

  • Cblf

  • Methylmalonic Acidemia And Homocystinuria, Cblf Type

  • Cobalamin, Defect In Lysosomal Release Of

  • Vitamin B12 Storage Disease

  • Cobalamin F Deficiency

  • Methylmalonic Acidemia With Homocystinuria Type Cblf

  • Cblf Defect

  • Cobalamin F Defect

  • Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblf

  • Lysosomal Membrane Cobalamin Transporter Deficiency

  • Methylmalonic Aciduria With Homocystinuria, Type Cblf

  • Methylcobalamin Deficiency Tape F

  • Methylmalonic Acidemia And Homocystinuria Cblf Type

  • Vitamin B12 Storage Defect

  • Aciduria, Methylmalonic, And Homocystinuria, Cblf Type

Malignant Ciliary Body Melanoma
  • Malignant Melanoma Of Ciliary Body

  • Melanoma Of The Ciliary Body

Ciliary Body Cancer
  • Malignant Neoplasm Of Ciliary Body

  • Malignant Tumor Of Ciliary Body

  • Malignant Tumor Of The Ciliary Body

  • Neoplasm Of Ciliary Body

  • Tumor Of The Ciliary Body

  • Primary Malignant Neoplasm Of Ciliary Body

  • Malignant Neoplasm Of Eyeball

  • Malignant Neoplasm Of Uveal Tract

  • Primary Malignant Neoplasm Of Sclera

  • Primary Malignant Neoplasm Of Uveal Tract

Hypopigmentation Of Eyelid
Melanoma
  • Malignant Melanoma

  • Cutaneous Melanoma

  • Naevocarcinoma

  • Malignant Melanomas

Nodular Malignant Melanoma
  • Nodular Melanoma

Skin Melanoma
  • Cutaneous Melanoma

  • Malignant Ear Melanoma

  • Malignant Lip Melanoma

  • Malignant Lower Limb Melanoma

  • Malignant Melanoma Of Ear And/Or External Auricular Canal

  • Malignant Melanoma Of Skin Of Lower Limb

  • Malignant Melanoma Of Skin Of Trunk Except Scrotum

  • Malignant Melanoma Of Skin Of Upper Limb

  • Malignant Neck Melanoma

  • Malignant Scalp Melanoma

  • Malignant Trunk Melanoma

  • Malignant Upper Limb Melanoma

  • Melanoma, Cutaneous Malignant

  • Melanoma

  • Malignant Melanoma Of Skin

  • Melanoma Nos

  • Malignant Mole, Meaning Melanoma Of Unspecified Site

  • Melanoma Of Unspecified Site

  • Cutaneous Malignant Melanoma

  • Mm - [Malignant Melanoma]

Epithelioid Cell Melanoma
  • Epithelioid Melanoma

Mucosal Melanoma
Piebald Trait
  • Piebaldism

  • PBT

  • Partial Albinism

  • Albinoidism, Oculocutaneous, Autosomal Dominant

Waardenburg Syndrome, Type 2a
  • Waardenburg Syndrome Type 2a

  • WS2A

  • Waardenburg Syndrome, Type Iia

  • Waardenburg Syndrome Without Dystopia Canthorum

  • Ws2

  • Waardenburg Syndrome Type Iia

  • Waardenburg Syndrome 2a

Chronic Endophthalmitis
Acral Lentiginous Melanoma
  • Acral Lentiginous Melanoma, Malignant

  • Malignant Acral Lentiginous Melanoma

  • Alm

  • Acral Lentiginous Malignant Melanoma Of Skin

  • Palmar/Plantar Melanoma

  • Subungual Melanoma

  • Acral Lentiginous Malignant Melanoma

Central Nervous System Melanocytic Neoplasm
  • Primary Melanocytic Lesion Of Meninges

  • Central Nervous System Primary Melanocytic Lesion

  • Melanocytic Tumor Of The Cns

  • Primary Melanocytic Lesions Of The Cns

Alkaptonuria
  • Homogentisic Acid Oxidase Deficiency

  • Alcaptonuria

  • AKU

  • Deficiency Of Homogentisicase

  • Homogentisate 1,2-Dioxygenase Deficiency

  • Alkaptonuric Ochronosis

  • Homogentisic Acidura

  • Ochronosis, Hereditary

  • Hereditary Ochronosis

  • Ochronosis

  • Homogentisicaciduria

  • Deficiency Of Homogentisate Oxygenase

Atypical Teratoid Rhabdoid Tumor
  • Rhabdoid Tumor Predisposition Syndrome

  • Rtps

  • Atypical Teratoid/Rhabdoid Tumor

  • Rhabdoid Predisposition Syndrome

  • Familial Posterior Fossa Brain Tumor Of Infancy

  • Familial Rhabdoid Tumor

  • At/Rt

  • Atypical Teratoid Rhabdoid Tumour

  • Atypical Teratoid/Rhabdoid Tumour

  • Rhabdoid Tumor Of The Cns

  • Rhabdoid Tumour Of The Cns

  • Familial Posterior Fossa Brain Tumor Syndrome

  • Hereditary Swi/Snf Deficiency Syndrome

  • Atrt

Gallbladder Melanoma
  • Malignant Melanoma Of Gallbladder

Keratosis, Seborrheic
  • Seborrheic Keratosis

  • Keratosis, Seborrheic, Somatic

  • Basal Cell Papilloma

  • Keratosis Seborrheica

  • KERSEB

Tyrosinemia, Type Iii
  • Tyrosinemia Type Iii

  • 4-Hydroxyphenylpyruvate Dioxygenase Deficiency

  • TYRSN3

  • 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency

  • Tyrosinemia Type 3

  • 4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency

  • 4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency

  • Tyrosinemia Due To 4-Hydroxyphenylpyruvate Dioxygenase Deficiency

  • Tyrosinemia Due To 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency

  • Tyrosinemia Due To Hpd Deficiency

  • Tyrosinemia 3

Meningeal Melanomatosis
  • Leptomeningeal Melanomatosis

Gilles De La Tourette Syndrome
  • Tourette Syndrome

  • Tourette Disorder

  • GTS

  • Ts

  • Gilles De La Tourette'S Syndrome

  • Motor-Verbal Tic Disorder

  • Guinon'S Disease

  • Psychogenic Tics

  • Tourette'S Syndrome

  • Chronic Motor And Vocal Tic Disorder

  • Td

  • Tourette'S Disease

  • Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]

  • Combined Vocal And Multiple Motor Tic Disorder

  • Tic De La Tourette

Skin Benign Neoplasm
  • Neoplasm Of Skin By Site

  • Tumor Of The Skin

  • Skin Tumor

  • Benign Neoplasm Of Skin

  • Skin Neoplasms

Melanoma, Cutaneous Malignant 1
  • Familial Melanoma

  • Melanoma, Cutaneous Malignant, Susceptibility To, 1

  • Melanoma, Malignant

  • CMM1

  • Melanoma, Cutaneous Malignant

  • Cmm

  • Familial Atypical Mole-Malignant Melanoma Syndrome

  • Fammm

  • Melanoma, Familial

  • Mlm

  • Dysplastic Nevus Syndrome, Hereditary

  • Dns

  • B-K Mole Syndrome

  • Melanoma, Cutaneous Malignant, 1

  • Malignant Melanoma, Cutaneous

  • Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

  • Dysplastic Nevus Syndrome

  • Cutaneous Melanoma

  • Familial Atypical Mole Melanoma Syndrome

  • Hereditary Melanoma

Metagonimiasis
  • Trematode Infections

  • Infection By Metagonimus Yokogawai

  • Metagonimus Yokogawai Infection

Sympathetic Ophthalmia
  • Sympathetic Uveitis

  • Ophthalmia, Sympathetic

  • Sympathetic Iridocyclitis

  • Sympathetic Endophthalmitis

Menkes Disease
  • Copper Transport Disease

  • Menkes Syndrome

  • MNK

  • Kinky Hair Disease

  • Steely Hair Disease

  • Menkes Kinky-Hair Syndrome

  • Mk

  • Steely Hair Syndrome

  • Menkea Syndrome

  • Md

  • Menkes Kinky Hair Syndrome

  • Hypocupremia, Congenital

  • Kinky Hair Syndrome

  • X-Linked Copper Deficiency

  • Menkes Kinky Hair Disease

Neurilemmoma
  • Schwannoma

  • Benign Schwannoma

  • Neurilemoma

  • Peripheral Fibroblastoma

  • Psammomatous Schwannoma

  • Neurolemmoma

  • Schwannomas

Tyrosinemia, Type I
  • Tyrosinemia Type I

  • Hepatorenal Tyrosinemia

  • Fumarylacetoacetase Deficiency

  • Fah Deficiency

  • TYRSN1

  • Fumarylacetoacetate Hydrolase Deficiency

  • Tyrosinemia Type 1

  • Tyrosinemia 1

  • Fumarylacetoacetase

Waardenburg Syndrome, Type 4a
  • Waardenburg-Shah Syndrome

  • Shah-Waardenburg Syndrome

  • Waardenburg Syndrome Type 4a

  • WS4A

  • Ws4

  • Waardenburg Syndrome Type 4

  • Waardenburg Syndrome Type Iva

  • Waardenburg Syndrome With Hirschsprung Disease Type 4a

  • Hirschsprung Disease With Pigmentary Anomaly

  • Waardenburg-Hirschsprung Syndrome

  • Waardenburg Syndrome, Type Iva

  • Waardenburg Syndrome With Hirschsprung Disease, Type 4a

  • Waardenburg-Hirschsprung Disease

  • Waardenburg Syndrome, Type 4

  • Waardenburg Syndrome 4a

Acanthoma
Angelman Syndrome
  • AS

  • Happy Puppet Syndrome

  • Happy Puppet Syndrome, Formerly

  • Puppetlike Syndrome

Waardenburg Syndrome, Type 1
  • Waardenburg Syndrome Type 1

  • WS1

  • Waardenburg Syndrome Type I

  • Waardenburg Syndrome With Dystopia Canthorum

  • Waardenburg'S Syndrome Type 1

  • Waardenburg Syndrome 1

  • Waardenburg Syndrome, Type I

  • Waardenburg Syndrome

Sarcomatoid Transitional Cell Carcinoma
  • Transitional Cell Carcinoma, Sarcomatoid

  • Transitional Spindle Cell Carcinoma

  • Transitional Cell Carcinoma, Spindle Cell

Hyperinsulinemic Hypoglycemia, Familial, 1
  • HHF1

  • Persistent Hyperinsulinemic Hypoglycemia Of Infancy

  • Familial Hyperinsulinemic Hypoglycemia 1

  • Congenital Hyperinsulinism

  • Phhi

  • Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency

  • Hypoglycemia, Hyperinsulinemic, Of Infancy

  • Hyperinsulinemic Hypoglycemia Due To Focal Adenomatous Hyperplasia

  • Nesidioblastosis Of Pancreas

  • Hyperinsulinism, Familial, With Pancreatic Nesidioblastosis

  • Hyperinsulinism, Congenital

  • Autosomal Dominant Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency

  • Diazoxide-Resistant Focal Hyperinsulinism Due To Sur1 Deficiency

  • Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency, Diazoxide-Resistant Focal Form

  • Autosomal Recessive Hyperinsulinism Due To Sur1 Deficiency

  • Autosomal Recessive Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency

  • Hypoglycemia, Hyperinsulinemic, Familial, Type 1

Uterus Perivascular Epithelioid Cell Tumor
  • Uterine Corpus Pecoma

Tyrosinemia
  • Hypertyrosinemia

  • Tyrosinemias

  • Hereditary Tyrosinemia

  • Hypertyrosinaemia

  • Tyrosinaemia

  • Hereditary Hypertyrosinemia

Ocular Melanoma
  • Intraocular Melanoma

  • Uveal Melanoma

  • Eye Melanoma

  • Melanoma Of Eye

  • Melanoma Of The Uvea

  • Malignant Melanoma Of Eye

Waardenburg Syndrome, Type 4c
  • Waardenburg Syndrome Type 4c

  • WS4C

  • Waardenburg Syndrome Type Ivc

  • Waardenburg Syndrome With Hirschsprung Disease Type 4c

  • Waardenburg Syndrome With Hirschsprung Disease, Type 4c

  • Waardenburg Syndrome, Type Ivc

  • Waardenburg Syndrome 4c

  • Hirschsprung Disease With Pigmentary Anomaly

  • Shah-Waardenburg Syndrome

  • Waardenburg-Shah Syndrome

  • Waardenburg Syndrome, Type 4a

Developmental And Epileptic Encephalopathy 60
  • DEE60

  • Epileptic Encephalopathy, Early Infantile, 60

  • Eiee60

  • Developmental And Epileptic Encephalopathy, 60

  • Early Infantile Epileptic Encephalopathy 60

Spinal Cord Melanoma
  • Melanoma Of The Spinal Cord

Advanced Sleep Phase Syndrome, Familial, 3
  • Advanced Sleep Phase Syndrome 3

  • FASPS3

  • Familial Advanced Sleep Phase Syndrome 3

  • Sleep Phase Syndrome, Advanced, Familial, Type 3

Autoimmune Disease Of Skin And Connective Tissue
Cervix Melanoma
Uveal Disease
  • Uveal Diseases

Nystagmus 3, Congenital, Autosomal Dominant
  • NYS3

  • Congenital Nystagmus 3

  • Autosomal Dominant Congenital Nystagmus 3

Integumentary System Disease
Testicular Cancer
  • Testis Cancer

  • Testicular Carcinoma

  • Testicular Neoplasms

  • Malignant Neoplasm Of Testis

  • Childhood Neoplasm Of The Testis

  • Neoplasm Of Testis

  • Pediatric Testicular Neoplasm

  • Testicular Tumor

  • Testis Neoplasm

  • Testicular Tumors

  • Testicular Neoplasm

  • Testicular Malignant Germ Cell Tumor

  • Childhood Testicular Neoplasm

  • Carcinoma Of The Testis

  • Cancer Of Testis

  • Malignant Neoplasm Of Testis, Nos

  • Malignant Neoplasm Of Testis, Unspecified

  • Malignant Tumour Of Testis

  • Testicle Cancer

  • Primary Malignant Neoplasm Of Testis

Orbit Rhabdomyosarcoma
  • Rhabdomyosarcoma Of The Orbit

  • Rhabdomyosarcoma Of Orbit

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Basal Cell Carcinoma
  • Basal Cell Cancer

  • Basal Cell Neoplasm

  • Basal Cell Carcinoma Of Skin

  • Malignant Basal Cell Tumor

  • Basal Cell Tumor

  • Epithelioma Basal Cell

  • Malignant Basal Cell Neoplasm

  • Rodent Ulcer

  • Carcinoma Basal Cell

  • Neoplasms, Basal Cell

  • Basal Cell Carcinomas

  • Experimental Organism Basal Cell Carcinoma

  • Nodulo-Ulcerative Basal Cell Carcinoma

  • Basalioma

  • Basal Cell Epithelioma Of Skin

  • Bcc - [Basal Cell Carcinoma] Of Skin

  • Rodent Ulcer Of Skin

  • Rodent Ulcer Of Unspecified Site

  • Basal Cell Epithelioma Of Unspecified Site

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

Developmental And Epileptic Encephalopathy 11
  • Epileptic Encephalopathy, Early Infantile, 11

  • DEE11

  • Eiee11

  • Developmental And Epileptic Encephalopathy, 11

  • Early Infantile Epileptic Encephalopathy 11

  • Encephalopathy, Developmental And Epileptic, Type 11

Hirschsprung Disease 1
  • Hirschsprung Disease

  • Aganglionic Megacolon

  • Hscr

  • Hirschsprung'S Disease

  • Congenital Megacolon

  • Congenital Intestinal Aganglionosis

  • Colonic Aganglionosis

  • Hirschsprung Disease, Susceptibility To, 1

  • Hirschsprung Disease, Protection Against

  • HSCR1

  • Mgc

  • Pelvirectal Achalasia

  • Total Intestinal Aganglionosis

  • Megacolon, Aganglionic

  • Macrocolon

  • Hscr 1

  • Hirschsprung Disease Type 1

  • Hirschsprung Disease, Type 1

  • Congenital Dilatation Of Colon

  • Aganglionosis

  • Congenital Aganglionic Megacolon

  • Aganglionosis Of Colon

  • Bowel Aganglionosis

  • Colon Aganglionosis

  • Hirschsprung Megacolon

Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

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 TYR VGNC VGNC:66738
Bos taurus TYR VGNC VGNC:36550
Rattus norvegicus TYR RGD RGD:1589755
Mus musculus TYR MGD MGI:98880
Macaca mulatta TYR VGNC VGNC:78682
Canis familiaris TYR VGNC VGNC:48026
Others TYR NCBI