PAX3 - paired box 3 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5077

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	References	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	References	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

Homeobox

Pax7

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	References
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

PAX3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84199	PAX3 Antibody (YA3896)	WB, ELISA	Human, Mouse
HY-P84199A	PAX3 Antibody (YA3896)(PBS only)	WB, ELISA	Human, Mouse

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

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B1152	Piperacetazine		98.03%	Unkown

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-139348	PFI-90		99.86%	Unkown
HY-112056	DIM-C-pPhCO2Me		99.47%	Unkown
HY-E70721	FGFR4 N535K Recombinant Human Active Protein Kinase		/	Unkown
HY-E70722	FGFR4 V550E Recombinant Human Active Protein Kinase		/	Unkown
HY-RS10090	PAX3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174560	Human PAX3 mRNA		/	Unkown
HY-RS19929	Pax3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26431	Pax3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	PAX3	NCBI