1. Gene
  2. TYR - tyrosinase Gene

TYR - tyrosinase Gene

Homo sapiens

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

Gene ID: 7299 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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

Recombinant TYR Proteins

Cat. No. Product Name Accession Purity
HY-P71792 TYR Protein, Human (P.pastoris, His) P14679 (H19-V377) ≥95%
HY-P79018 TYR Protein, Human (HEK293, His) P14679-1 (H19-V377) ≥95%

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
Macaca fascicularis TYR NCBI NCBI:102141480
Susscrofa domestica TYR NCBI
Leporidae TYR NCBI
Others TYR NCBI