1. Gene
  2. PAX3 - paired box 3 Gene

PAX3 - paired box 3 Gene

Homo sapiens

Also known as WS1; WS3; CDHS; HUP2; PAX-3

Gene ID: 5077 | Gene type: protein coding

About PAX3

Cytogenetic location: 2q36.1 Genomic coordinates (GRCh38): 2:222,199,887-222,298,998 (from NCBI)

This gene has 15 transcripts (splice variants), 284 orthologues, 50 paralogues and is associated with 98 phenotypes. Low expression observed in reference dataset.

Summary

This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]

PAX3 Products(8)

mRNA Protein Name
NM_000438.6 NP_000429.2 paired box protein Pax-3 isoform PAX3a
NM_001127366.3 NP_001120838.1 paired box protein Pax-3 isoform PAX3i
NM_013942.5 NP_039230.1 paired box protein Pax-3 isoform PAX3b
NM_181457.4 NP_852122.1 paired box protein Pax-3 isoform PAX3
NM_181458.4 NP_852123.1 paired box protein Pax-3 isoform PAX3d
NM_181459.4 NP_852124.1 paired box protein Pax-3 isoform PAX3e
NM_181460.4 NP_852125.1 paired box protein Pax-3 isoform PAX3h
NM_181461.4 NP_852126.1 paired box protein Pax-3 isoform PAX3g
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
11029584 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
11863357 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
11863357 GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
11863357 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

PAX3 Protein Structure

PAX

PAX: 'Paired box' domain (34 - 159)

Homeobox

Homeobox: Homeobox domain (220 - 276)

Pax7

Pax7: Paired box protein 7 (346 - 391)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 479 a.a.
Protein Preferred Names Protein Names

paired box protein Pax-3

paired box homeotic gene 3

PAX3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
PAX3 P23760 POU3F2 Homo sapiens P20265
Pull Down
11029584
Intra
PAX3 P23760 POU3F2 Homo sapiens P20265
Y2H
11029584
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Waardenburg Syndrome, Type 3

Waardenburg Syndrome Type 3

Klein-Waardenburg Syndrome

WS3

Waardenburg Syndrome With Upper Limb Anomalies

Waardenburg Syndrome Type Iii

Waardenburg Syndrome, Type Iii

White Forelock Syndrome With Multiple Congenital Malformations

Waardenburg Syndrome With Limb Anomalies

Waardenburg Syndrome 3

White Forelock With Malformations

Klein'S Syndrome

Craniofacial-Deafness-Hand Syndrome

CDHS

Craniofacial Deafness Hand Syndrome

Sommer-Young-Wee-Frye Syndrome

Features Of Flat Facial Profile, Hypertelorism, Hypoplastic Nose With Slitlike Nares, And A Sensorineural Hearing Loss

Craniofacial-Hearing Loss-Hand Syndrome

Rhabdomyosarcoma 2

Alveolar Rhabdomyosarcoma

Rhabdomyosarcoma, Alveolar

Rhabdomyosarcoma Alveolar

RMS2

Rmsa

Rhabdomyosarcoma 2, Alveolar

Alveolar Childhood Rhabdomyosarcoma

Arms

Rhabdomyosarcoma, Type 2

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

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

Rare Genetic Deafness

Rare Genetic Hearing Loss

Muscle Cancer

Myosarcoma

Malignant Neoplasm Of Muscle

Malignant Tumor Of Muscle

Malignant Tumor Of The Muscle

Muscle Neoplasms

Myomatous Neoplasm

Embryonal Rhabdomyosarcoma

Rhabdomyosarcoma, Embryonal

Rhabdomyosarcoma Embryonal

Botryoid Rhabdomyosarcoma

Erms

Spindle Cell Rhabdomyosarcomas

Rhabdomyosarcoma
Skeletal Muscle Cancer

Malignant Tumor Of Skeletal Muscle

Skeletal Muscle Neoplasm

Myelomeningocele

Meningomyelocele

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Piebald Trait

Piebaldism

PBT

Partial Albinism

Albinoidism, Oculocutaneous, Autosomal Dominant

Pleomorphic Rhabdomyosarcoma

Adult Pleomorphic Rhabdomyosarcoma

Anaplastic Rhabdomyosarcoma

Pleomorphic Rhabdomyosarcoma, Adult Type

Central Nervous System Rhabdomyosarcoma

Rhabdomyosarcoma Of The Cns

Progressive Relapsing Multiple Sclerosis

Prms

Progressive-Relapsing Ms

Multiple Sclerosis, Progressive Relapsing

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

Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

Orbit Rhabdomyosarcoma

Rhabdomyosarcoma Of The Orbit

Rhabdomyosarcoma Of Orbit

Ectomesenchymoma

Rhabdomyosarcoma With Ganglionic Differentiation

Malignant Ectomesenchymoma

Central Nervous System Mesenchymal Non-Meningothelial Tumor

Central Nervous System Mesenchymal Non-Meningothelial Tumour

Non-Meningothelial Mesenchymal Tumor

Non-Meningothelial Mesenchymal Tumour

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

Breast Rhabdomyosarcoma

Rhabdomyosarcoma Of The Breast

Pendred Syndrome

Goiter-Deafness Syndrome

Deafness With Goiter

PDS

Thyroid Dyshormonogenesis 2b

Tdh2b

Autosomal Recessive Sensorineural Hearing Impairment And Goiter

Pendred'S Syndrome

Thyroid Hormonogenesis, Genetic Defect In, 2b

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b

Congenital Hypothyroidism Due To Dyshormonogenesis 2b

Genetic Defect In Thyroid Hormonogenesis 2b

Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter

Goiter-Hearing Loss Syndrome

Goitre-Deafness Syndrome

Goitre Deafness

Treacher Collins Syndrome 1

Treacher Collins Syndrome

Mandibulofacial Dysostosis

Treacher Collins-Franceschetti Syndrome

Tcof

Tcs

Mfd1

Franceschetti-Klein Syndrome

TCS1

Franceschetti Syndrome

Franceschetti-Zwahlen-Klein Syndrome

Zygoauromandibular Dysplasia

Treacher-Collins Syndrome

Mandibulofacial Dysostosis Without Limb Anomalies

Bilateral And Symmetric Oto-Mandibular Dysplasia

Spindle Cell Rhabdomyosarcoma
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Parameningeal Embryonal Rhabdomyosarcoma
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

Waardenburg Syndrome, Type 2c

Waardenburg Syndrome Type 2c

WS2C

Waardenburg Syndrome, Type Iic

Waardenburg Syndrome Type Iic

Waardenburg Syndrome, Type 2b

Waardenburg Syndrome Type 2b

WS2B

Waardenburg Syndrome, Type Iib

Waardenburg Syndrome Type Iib

Botryoid Rhabdomyosarcoma

Sarcoma Botryoides

Botryoid Sarcoma

Botryoid-Type Embryonal Rhabdomyosarcoma

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

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease

Pcwh Syndrome

PCWH

Neurologic Waardenburg-Shah Syndrome

Waardenburg-Shah Syndrome, Neurologic Variant

Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome

Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease

Ws4 Plus

Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease

Waardenburg-Shah Syndrome Neurologic Variant

Oral Rhabdomyosarcoma
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

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

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

Ewing Sarcoma

Neuroepithelioma

Ewing'S Tumor

Primitive Neuroectodermal Tumor

Ewings Sarcoma

Ewing'S Sarcoma

Peripheral Neuroepithelioma

ES

Ewings Sarcoma-Primitive Neuroectodermal Tumor

Localized Peripheral Primitive Neuroectodermal Tumor

Peripheral Primitive Neuroectodermal Tumor

Ewing Tumor

Sarcoma, Ewing'S

Ewing Family Of Tumors

Extraosseous Ewing Tumor

Askin Tumor

Ewing'S Family Localized Tumor

Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing Sarcoma

Localized Ewing'S Sarcoma

Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing'S Tumor

Pnet Of Thoracopulmonary Region

Tumor Of The Ewing Family

Skeletal Ewing Sarcoma

Osseous Ewing Sarcoma

Ppnet

Peripheral Pnet

Extraskeletal Ewing Sarcoma

Eoe

Extraosseous Ewing Sarcoma

Extraskeletal Ewing Tumor

Esft

Ewing Sarcoma Family Of Tumors

Pne

Pnet

Pnet Of The Chest Wall

Sarcoma, Ewing

Neuroectodermal Tumors, Primitive, Peripheral

Neuroectodermal Tumor, Primitive

Disorder Of Eye

Askin'S Tumor

Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

Neuroepithelioma, Peripheral

Waardenburg Syndrome, Type 2d

Waardenburg Syndrome Type 2d

WS2D

Waardenburg Syndrome, Type Iid

Waardenburg Syndrome Type Iid

Waardenburg Syndrome 2d

Mismatch Repair Cancer Syndrome 1

Turcot Syndrome

Constitutional Mismatch Repair Deficiency Syndrome

Mismatch Repair Deficiency

Mmr Deficiency

MMRCS1

Cmmrds

Childhood Cancer Syndrome

Brain Tumor-Polyposis Syndrome 1

Btps1

Btp1 Syndrome

Mismatch Repair Cancer Syndrome

Childhood Cancer

Brain Tumor-Polyposis Syndrome

Cns Tumors With Familial Polyposis Of The Colon

Glioma-Polyposis Syndrome

Mmrcs

Malignant Tumors Of The Central Nervous System Associated With Familial Polyposis Of The Colon

Biallelic Mismatch Repair Deficiency Syndrome

Bmmrd

Cmmr-D Syndrome

Desmoplastic Small Round Cell Tumor

Dsrct

Desmoplastic Small Round-Cell Tumor

Desmoplastic Small Round-Cell Neoplasm

Synovium Cancer

Malignant Tumor Of Synovium

Synovial Neoplasm

Muscular Disease
Orbit Embryonal Rhabdomyosarcoma

Embryonal Rhabdomyosarcoma Of The Orbit

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy

Fshd

Landouzy-Dejerine Muscular Dystrophy

Muscular Dystrophy, Facioscapulohumeral

FSHD1

Fshd1a

Muscular Dystrophy, Facioscapulohumeral, Type 1a

Facioscapulohumeral Muscular Dystrophy Type 1a

Fsh Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy 1a

Facioscapulohumeral Atrophy

Facioscapulohumeral Myopathy

Muscular Dystrophy, Facioscapulohumeral, Type 1

Facioscapulohumeral Muscular Dystrophy Type 1

Landouzy Dejerine Muscular Dystrophy

Muscular Dystrophy, Landouzy-Dejerine

Fshmd1a

Facio-Scapulo-Humeral Dystrophy

Facioscapulohumeral Type Progressive Muscular Dystrophy

Facioscapuloperoneal Muscular Dystrophy

Facioscapulohumeral Dystrophy

Fsh Dystrophy

Landouzy-Dejerine Dystrophy

Landouzy-Dejerine Myopathy

Fmd

Facioscapulohumeral Muscular Dystrophy-1a

Muscular Dystrophy Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral, Type 1

Landouzy-Dejerine Disease

Landouzy-Déjerine Atrophy

Facioscapulohumeral Muscle Dystrophy

Fmd - [Facioscapulohumeral Muscular Dystrophy]

Fsh - [Facioscapulohumeral Muscular Dystrophy]

Fshd - [Facioscapulohumeral Muscular Dystrophy]

Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

Landouzy-Déjérine Muscular Dystrophy

Prostate Embryonal Rhabdomyosarcoma

Embryonal Rhabdomyosarcoma Of The Prostate

Adult Fibrosarcoma
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Megacolon

Dilatation Of Colon

Scoliosis
Myxoid Liposarcoma

Myxoid/Round Cell Liposarcoma

Liposarcoma, Myxoid

Mrcls

Myxoliposarcoma

MXLIPO

Liposarcoma Myxoid

Liposarcoma

Alveolar Soft Part Sarcoma

ASPS

Alveolar Soft-Part Sarcoma

Sarcoma, Alveolar Soft Part

Alveolar Soft Tissue Sarcoma

Sarcoma Alveolar Soft Part

Adult Alveolar Soft-Part Sarcoma

Childhood Alveolar Soft-Part Sarcoma

Spindle Cell Sarcoma

Sarcoma

Sarcoma Spindle Cell

Sarcoma, Spindle Cell

Sarcoma - Category

Sarcoma, Synovial

Synovial Sarcoma

Synovialosarcoma

Synovial Cell Sarcoma

Sarcoma Synovial

Branchiooculofacial Syndrome

Branchio-Oculo-Facial Syndrome

BOFS

Bof Syndrome

Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome

Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome

Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging

Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging

Bofs Syndrome

Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome

Clear Cell Basal Cell Carcinoma

Skin Clear Cell Basal Cell Carcinoma

Well-Differentiated Liposarcoma

Atypical Lipomatous Tumor

Atypical Lipoma

Alt

Wdls

Liposarcoma, Well Differentiated

Pleomorphic Lipoma

Dedifferentiated Liposarcoma

Ddls

Liposarcoma Dedifferentiated

Liposarcoma, Dedifferentiated

Myxofibrosarcoma

Fibromyxosarcoma

Fibromyxoid Sarcoma

Myxoid Malignant Fibrous Histiocytoma

Dermatofibrosarcoma Protuberans, Myxoid

Orofacial Cleft

Cleft, Orofacial

Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome

Gorlin Syndrome

Nbccs

BCNS

Gorlin-Goltz Syndrome

Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies

Cerebral Gigantism Jaw Cysts

Cramer Niederdellmann Syndrome

Gorlin Syndrome Or Gorlin-Goltz Syndrome

Naevoid Basal Cell Carcinoma Syndrome

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Rattus norvegicus PAX3 RGD RGD:620431
Macaca mulatta PAX3 VGNC VGNC:75762
Mus musculus PAX3 MGD MGI:97487
Canis familiaris PAX3 VGNC VGNC:44277
Felis catus PAX3 VGNC VGNC:68698
Bos taurus PAX3 VGNC VGNC:32597