1. Gene
  2. NR0B1 - nuclear receptor subfamily 0 group B member 1 Gene

NR0B1 - nuclear receptor subfamily 0 group B member 1 Gene

Homo sapiens

Also known as AHC; AHX; DSS; GTD; HHG; AHCH; DAX1; DAX-1; NROB1; SRXY2

Gene ID: 190 | Gene type: protein coding

About NR0B1

Cytogenetic location: Xp21.2 Genomic coordinates (GRCh38): X:30,304,206-30,309,390 (from NCBI)

This gene has 2 transcripts (splice variants), 231 orthologues, 1 paralogue and is associated with 7 phenotypes. Biased expression in testis (RPKM 9.2), adrenal (RPKM 6.6) and 1 other tissue.

Summary

This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]

NR0B1 Products(1)

mRNA Protein Name
NM_000475.5 NP_000466.2 nuclear receptor subfamily 0 group B member 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables AF-2 domain binding IPI
IPI: Inferred from physical interaction
17686645 GOA
enables DNA hairpin binding IDA
IDA: Inferred from direct assay
9384387 GOA
enables RNA binding IDA
IDA: Inferred from direct assay
10848616 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
19651776 GOA
enables nuclear receptor binding IPI
IPI: Inferred from physical interaction
11875111 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12771131 GOA
enables protein domain specific binding IPI
IPI: Inferred from physical interaction
15100213 GOA
enables protein homodimerization activity IPI
IPI: Inferred from physical interaction
16709599 GOA
enables transcription corepressor activity IMP
IMP: Inferred from mutant phenotype
19651776 GOA
Biological Process GO Annotation Evidence Reference Source
involved in adrenal gland development IMP
IMP: Inferred from mutant phenotype
7990953 GOA
involved in gonad development IMP
IMP: Inferred from mutant phenotype
7990953 GOA
involved in male gonad development IMP
IMP: Inferred from mutant phenotype
7990958 GOA
involved in negative regulation of DNA-binding transcription factor activity IMP
IMP: Inferred from mutant phenotype
19651776 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
7990953 GOA
involved in negative regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
19651776 GOA
involved in negative regulation of intracellular steroid hormone receptor signaling pathway IDA
IDA: Inferred from direct assay
11875111 GOA
acts upstream of negative regulation of steroid biosynthetic process IDA
IDA: Inferred from direct assay
9384387 GOA
involved in protein localization IDA
IDA: Inferred from direct assay
11875111 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
16709599 GOA
located in membrane IDA
IDA: Inferred from direct assay
10848616 GOA
located in nucleus IDA
IDA: Inferred from direct assay
7990953 GOA
located in ribosome IDA
IDA: Inferred from direct assay
10848616 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

NR0B1 Protein Structure

NR_Repeat

NR_Repeat: Nuclear receptor repeat (1 - 49)

NR_Repeat

NR_Repeat: Nuclear receptor repeat (68 - 115)

NR_Repeat

NR_Repeat: Nuclear receptor repeat (134 - 181)

NR_Repeat

NR_Repeat: Nuclear receptor repeat (201 - 246)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (254 - 449)

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

nuclear receptor subfamily 0 group B member 1

DSS-AHC critical region on the X chromosome protein 1

NR0B1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
NR0B1 P51843 ESRRG Homo sapiens P62508-3
Validated Y2H
32296183
Intra
NR0B1 P51843 ESRRG Homo sapiens P62508-3
Y2H Prey Pooling
32296183
Intra
NR0B1 P51843 ESRRG Homo sapiens P62508-3
Y2H Array
32296183
Intra
NR0B1 P51843 ESRRG Homo sapiens P62508
Y2H Prey Pooling
25416956
Intra
NR0B1 P51843 ESRRG Homo sapiens P62508
Validated Y2H
25416956
Intra
NR0B1 P51843 ESRRG Homo sapiens P62508
Y2H Array
25416956
Intra
NR0B1 P51843 EEF2KMT Homo sapiens Q96G04
Validated Y2H
32296183
Intra
NR0B1 P51843 RORA Homo sapiens P35398
Y2H Array
16713569
Intra
NR0B1 P51843 NR5A1 Homo sapiens Q13285
Validated Y2H
32296183
Intra
NR0B1 P51843 NR5A1 Homo sapiens Q13285
Y2H Array
25416956
Intra
NR0B1 P51843 NR5A1 Homo sapiens Q13285
Y2H Array
25910212
Intra
NR0B1 P51843 NR5A1 Homo sapiens Q13285
Y2H Bait-Prey Pool
25910212
Intra
NR0B1 P51843 NR5A1 Homo sapiens Q13285
Y2H Array
32296183
Intra
NR0B1 P51843 NR5A1 Homo sapiens Q13285
Validated Y2H
25910212
Intra
NR0B1 P51843 NR5A1 Homo sapiens Q13285
Y2H Prey Pooling
25416956
Intra
NR0B1 P51843 NR5A1 Homo sapiens Q13285
Validated Y2H
25416956
Intra
NR0B1 P51843 NR5A1 Homo sapiens Q13285
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Adrenal Hypoplasia, Congenital

X-Linked Adrenal Hypoplasia Congenita

Congenital Adrenal Hypoplasia

AHC

Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism

Adrenal Hypoplasia Congenita

X-Linked Ahc

Ahch

Ahx

Ahc With Hhg

Cytomegalic Adrenocortical Hypoplasia

Ahc With Isolated Gonadotropin Deficiency

X-Linked Congenital Adrenal Hypoplasia

Congenital Adrenal Hypoplasia, X-Linked

Addison Disease, X-Linked

Primary Adrenal Hypoplasia

Adrenal Hypoplasia Congenital, X-Linked

X-Linked Addison Disease

X-Linked Adrenal Hypoplasia Congenital

Congenital Hypoplasia Of Adrenal Gland

Congenital Adrenal Gland Hypoplasia

Congenital Small Adrenal Gland

Adrenal Hypoplasia

Cah - [Congenital Adrenal Hypoplasia]

46,Xy Sex Reversal 2

Dosage-Sensitive Sex Reversal

Dss

SRXY2

46,Xy Sex Reversal, Dax1-Related

46xy Sex Reversal 2, Dosage-Sensitive

46,Xy Sex Reversal Dax1-Related

46,Xy Sex Reversal

Swyer Syndrome

Pure Gonadal Dysgenesis 46,Xy

Gonadal Dysgenesis, Xy Female Type

Gonadal Dysgenesis, 46,Xy

46,Xy Cgd

46,Xy Complete Gonadal Dysgenesis

46,Xy Pure Gonadal Dysgenesis

46 Xy Gonadal Dysgenesis

46, Xy Cgd

46, Xy Complete Gonadal Dysgenesis

46, Xy Pure Gonadal Dysgenesis

Xy Pure Gonadal Dysgenesis

Female With 46,Xy Karyotype

Xy Females

Hypogonadism
Hypogonadotropic Hypogonadism

Klinefelter Syndrome

Klinefelter'S Syndrome

Xxy Syndrome

Xxy Trisomy

Hypogonadotropism

47, Xxy

Congenital Idiopathic Hypogonadotropic Hypogonadism

Isolated Congenital Gonadotropin Deficiency

47,Xxy Syndrome

47, Xxy Syndrome

Klinefelters Syndrome

Hypogonadism

Klinefelter Syndrome In Males

Klinefelter Syndrome, Unspecified

Klinefelter Syndrome Karyotype 47, Xxy

Glycerol Kinase Deficiency

Hyperglycerolemia

GKD

Gk Deficiency

Gk1 Deficiency

Deficiency Of Glycerol Kinase

Isolated Glycerol Kinase Deficiency

Glycerol Kinase Deficiency, Adult Form

Glycerol Kinase Deficiency, Juvenile Form

Deficiency, Glycerol Kinase

Adrenal Cortical Hypofunction

Adrenal Cortical Insufficiency

Corticoadrenal Insufficiency

Hypoadrenocorticism, Familial

Addison Disease

Primary Adrenocortical Insufficiency

Addison'S Disease

Adrenal Gland Hypofunction

Adrenal Hypoplasia

Adrenal Aplasia

Addison Disease, Chronic Adrenal Insufficiency

Primary Hypoadrenalism

Hypoadrenocorticism Familial

Autoimmune Addison Disease

Autoimmune Adrenalitis

Classic Addison Disease

Primary Addison Disease

Addisons Disease

Addison Disease, Susceptibility To

Autoimmune Primary Adrenal Insufficiency

Addison'S Disease Due To Autoimmunity

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

Image Syndrome

IMAGE

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

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

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

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

Image Anomaly

Image Association

Fetal Growth Retardation

Pyle Metaphyseal Dysplasia

46,Xy Partial Gonadal Dysgenesis

46,Xy Pgd

46,Xy Partial Testicular Dysgenesis

46,Xx Sex Reversal 1

46,Xx Testicular Disorder Of Sex Development

46,Xx Gonadal Dysgenesis

SRXX1

46,Xx Gonadal Dysgenesis, Complete, Sry-Positive

46,Xx Testicular Dsd

Xx Male Syndrome

46,Xx Complete Gonadal Dysgenesis

46,Xx Pure Gonadal Dysgenesis

Follicular Stimulating Hormone-Resistant Ovaries

Hypergonadotropic Ovarian Dysgenesis

Ovotesticular Disorder Of Sex Development

46,Xx Sex Reversal, Sry-Positive

Xx Male, Sry-Positive

46xx Sex Reversal 1

46, Xx Gonadal Sex Reversal

Xx Sex Reversal

46,Xx Ovarian Dysgenesis

Fsh-Ro

Xx Female Gonadal Dysgenesis

Xx-Gd

46,Xx Ovotesticular Disorder Of Sex Development

46,Xx Ovotesticular Dsd

De La Chapelle Syndrome

Xx, Male Syndrome

46,Xx Gonadal Dysgenesis Complete Sry-Positive

46,Xx Sex Reversal Sry-Positive

46,Xx True Hermaphroditism Sry-Positive

Ovotesticular Dsd

Xx Male Sry-Positive

Ovotesticular Disorders Of Sex Development

46, Xx Testicular Disorders Of Sex Development

Resistant Ovary Syndrome

Dysgenetic Ovaries

Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries]

True Hermaphroditism

Ovotestis

True Hermaphrodite

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Metaphyseal Dysplasia

Bakwin-Krida Syndrome

Pyle'S Disease

Pyle-Cohn Syndrome

Adrenal Cortex Disease

Adrenal Cortex Diseases

Chromosome Xp21 Deletion Syndrome

Complex Glycerol Kinase Deficiency

Xp21 Microdeletion Syndrome

Monosomy Xp21

Xp21 Deletion Syndrome

Complex Gkd

Del

Xp21 Contiguous Gene Deletion Syndrome

Glycerol Kinase Deficiency - Contiguous Gene Syndrome

Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete

P450scc Deficiency

Congenital Adrenal Insufficiency

Adrenal Insufficiency, Congenital, With 46xy Sex Reversal, Partial Or Complete

46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11a1 Deficiency

Xy Sex Reversal-Adrenal Failure

Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal

AICSR

Adrenal Insufficiency Congenital With 46,Xy Sex Reversal Partial Or Complete

Adrenal Insufficiency, Congenital

Congenital Adrenal Hyperplasia

Adrenogenital Syndrome

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

Turner Syndrome

Monosomy X

Gonadal Dysgenesis Turner Type

Ullrich-Turner Syndrome

Bonnevie-Ullrich Syndrome

Karyotype 45, X

Genital Dwarfism, Turner Type

Gonadal Dysgenesis

45,X

Turner'S Syndrome

Gonadal Dysgenesis - Turner

Monosomy X Syndrome

Xo Syndrome

Genital Dwarfism

45, X Syndrome

Bonnevie-Ulrich Syndrome

Chromosome X Monosomy X

Schereshevkii Turner Syndrome

Turner Varny Syndrome

Ts

45,X Syndrome

45,X/46,Xx Syndrome

Turners Syndrome

Gonadal Dysgenesis, 45,X

X0 Syndrome

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

Congenital Lipoid Adrenal Hyperplasia

Lipoid Cah

Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia 1

Cah

Clah

LCAH

Adrenal Hyperplasia I

Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

Congenital Adrenal Hyperplasia Lipoid

Adrenal Hyperplasia, Congenital

Congenital Adrenal Hyperplasia, Lipoid

AH1

Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

Adrenal Hyperplasia Congenital

Hyperplasia, Adrenal, Lipoid, Congenital

Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

Congenital Adrenal Cortical Hyperplasia

Congenital Adrenal Gland Hyperplasia

Congenital Adrenogenital Syndrome

Congenital Hyperadrenocorticism

Congenital Adrenogenitalism

Congenital Female Adrenal Pseudohermaphroditism

46,Xx Sex Reversal

46,Xx Testicular Disorder Of Sex Development

46,Xx Testicular Dsd

De La Chapelle Syndrome

Srxx

Xx, Male Syndrome

46, Xx Testicular Disorders Of Sex Development

Adrenal Cortical Carcinoma

Adrenocortical Carcinoma

Adrenal Cortex Carcinoma

Carcinoma Of The Adrenal Cortex

Acc

Adrenocortical Cancer

Carcinoma Adrenocortical

Corticosterone Methyloxidase Type I Deficiency

Cmo I Deficiency

Aldosterone Deficiency I

Aldosterone Deficiency Due To Defect In Steroid 18-Hydroxylase

18-Hydroxylase Deficiency

Hypoaldosteronism, Congenital, Due To Cmo I Deficiency

Corticosterone Methyloxidase Deficiency 1

Corticosterone Methyloxidase Type 1 Deficiency

Hyperreninemic Hypoaldosteronism, Familial, 1

Fhha1a

Steroid 18-Hydroxylase Deficiency

Aldosterone Synthase Deficiency

18 Hydroxylase Deficiency

18 Alpha Hydroxylase Deficiency

Aldosterone Deficiency 1

Aldosterone Deficiency Due To Defect In 18 Hydroxylase

Cmo 1 Deficiency

Corticosterone Methyloxidase 1 Deficiency

CMO-1 DEFICIENCY

Aldosterone Deficiency Due To Defect In 18-Hydroxylase

Corticosterone Methyl Oxidase Type I Deficiency

Corticosterone Methyl Oxidase Type Ii Deficiency

Mixed Gonadal Dysgenesis

Gonadal Dysgenesis Mixed

Gonadal Dysgenesis, Mixed

Adrenal Gland Disease

Adrenal Gland Diseases

Adrenal Gland Disorders

45,X/46,Xy Mixed Gonadal Dysgenesis

45,X/46,Xy Mgd

45,X0/46,Xy Mgd

45,X0/46,Xy Mixed Gonadal Dysgenesis

Familial Glucocorticoid Deficiency

Glucocorticoid Deficiency

Acth Resistance

Adrenal Unresponsiveness To Acth

Hereditary Unresponsiveness To Adrenocorticotropic Hormone

Isolated Glucocorticoid Deficiency

Glucocorticoid Deficiency, Familial

Glucocorticoid Deficiency 1

Conn'S Syndrome

Cushing Syndrome

Hyperaldosteronism

Primary Hyperaldosteronism

Hypercortisolism

Primary Aldosteronism

Cushing'S Syndrome

Adrenal Gland Hyperfunction

Conn Syndrome

Hyperadrenalism

Ectopic Acth Syndrome

Hyperadrenocorticism

Cushing Disease

Cushing'S Disease

Adrenal Cortex Adenoma

Corticotroph Pituitary Adenoma

Pituitary Corticotroph Micro-Adenoma

Pituitary-Dependent Cushing Syndrome

Pituitary Acth Hypersecretion

Acth Syndrome, Ectopic

Acth-Secreting Pituitary Adenoma

Adrenal Hyperfunction Resulting From Pituitary Acth Excess

Ectopic Adrenocorticotropic Hormone Syndrome

Nodular Primary Adrenocortical Dysplasia

Pituitary Dependent Cushing Syndrome

Pituitary Cushing Syndrome

Pituitary-Dependant Cushing Syndrome

Pituitary-Dependant Hypercortisolism

Pituitary-Dependant Hypercortisolism Disorder

Aldosteronism Primary

Acth Syndrome Ectopic

Adrenal Cushing'S Syndrome

Adrenal Cortical Adenoma

Cushing Syndrome Nos

Cortisol Hypersecretion

Corticoadrenal Hypersecretion

Cushing Syndrome Secondary To Ectopic Acth-Secretion

Ectopic Cushing Syndrome

Hypercortisolism Due To Nonpituitary Tumour

Ectopic Acth - [Adrenocorticotropic Hormone] Secretion

Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome

Idiopathic Aldosteronism

Aldosteronism

Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia

Primary Aldosteronism Due To Adrenal Hyperplasia

Achalasia-Addisonianism-Alacrima Syndrome

Allgrove Syndrome

Triple-A Syndrome

Achalasia-Addisonianism-Alacrimia Syndrome

Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder

Triple A Syndrome

Aaa Syndrome

AAAS

Glucocorticoid Deficiency With Achalasia

Glucocorticoid Deficiency And Achalasia

Addisonian-Achalasia Syndrome

Hypoadrenalism With Achalasia

Alacrima-Achalasia-Addisonianism

Aaa

Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima

Achalasia Addisonianism Alacrimia Syndrome

Achalasia Alacrima Syndrome

Addisonian Achalasia Syndrome

Achalasia-Addisonian Syndrome

Achalasia-Alacrima Syndrome

2a Syndrome

3a Syndrome

4a Syndrome

Adrenal Insufficiency-Achalasia-Alacrima Syndrome

Double A Syndrome

Quaternary A Syndrome

Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima

Allgrove'S Syndrome

Adrenal Gland Hypofunction

Adrenal Cortical Hypofunction

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Central Precocious Puberty

Cpp

Gonadotropin-Dependant Precocious Puberty

Gonadotropin-Dependent Precocious Puberty

Precocious Puberty, Central

Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy

DMD

Muscular Dystrophy, Duchenne

Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

Severe Dystrophinopathy, Duchenne Type

Muscular Dystrophy Duchenne

Dystrophy, Muscular, Duchenne Type

Benign Duchenne Muscular Dystrophy

Duchenne Motor Neuron Disease

Duchenne Type Dystrophy

Duchenne-Griesinger Disease

Steroid Inherited Metabolic Disorder

Steroid Metabolism, Inborn Errors

Adrenal Carcinoma

Adrenal Cancer

Adrenal Gland Cancer

Malignant Neoplasm Of Adrenal Gland

Adrenal Gland Neoplasms

Carcinoma Of The Adrenal Gland

Adrenal Neoplasm

Malignant Adrenal Tumor

Neoplasm Of Adrenal Gland

Tumor Of The Adrenal Gland

Adrenal Gland Neoplasm

Adrenocortical Carcinoma

Adrenal Gland Malignancy

Suprarenal Cancer

Malignant Neoplasm Of Suprarenal Gland

Malignant Neoplasm Of Adrenal Gland, Unspecified

Malignant Tumour Of Adrenal Gland

Suprarenal Gland Cancer

Primary Malignant Neoplasm Of Adrenal Gland

Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders

Ovarian Gonadoblastoma
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

Persistent Mullerian Duct Syndrome

Persistent Müllerian Duct Syndrome

Pmds

Persistent Oviduct Syndrome

Persistent Muellerian Duct Syndrome

Female Genital Ducts In Otherwise Normal Male

Hernia Uteri Inguinale

Persistent Mullerian Duct Syndrome, Types 1 And 2

Persistent Mullerian Derivatives

Androgen Insensitivity, Partial

Partial Androgen Insensitivity Syndrome

Reifenstein Syndrome

PAIS

Androgen Insensitivity, Partial, With Or Without Breast Cancer

Familial Incomplete Male Pseudohermaphroditism, Type 1

Androgen Insensitivity Syndrome, Partial

Androgen Resistance Syndrome, Partial

Reifenstein Syndrome, Partial

Partial Androgen Resistance Syndrome

Androgen Insensitivity Partial With Or Without Breast Cancer

Androgen Insensitivity Syndrome Partial

Insensitivity Syndrome, Androgen, Partial, With/Without Breast Cancer Syndrome

Hermaphroditism
Ovarian Dysgenesis 2

Premature Ovarian Failure 4

ODG2

Ovarian Dysgenesis, Hypergonadotropic, X-Linked

Ovarian Failure, Hypergonadotropic, Due To Ovarian Dysgenesis

Ovarian Failure Hypergonadotropic Due To Ovarian Dysgenesis

X-Linked Hypergonadotropic Ovarian Dysgenesis

POF4

Dysgenesis, Ovarian, Type 2

Gonadoblastoma

GBY

Pseudohermaphroditism

Indeterminate Sex And Pseudohermaphroditism

Complete Androgen Insensitivity Syndrome

Cais

Complete Androgen Resistance Syndrome

Androgen Insensitivity Syndrome Complete

Androgen Insensitivity, Complete

Androgen-Insensitivity Syndrome

Testicular Feminization

Androgen Insensitivity Syndrome

Androgen Resistance Syndrome

AIS

Testicular Feminization Syndrome

Androgen Receptor Deficiency

Dhtr Deficiency

Dihydrotestosterone Receptor Deficiency

Ar Deficiency

Testicular Feminization

Tfm

Androgen Insensitivity

Androgen-Insensitivity Syndrome

Goldberg-Maxwell Syndrome

Complete Androgen Insensitivity Syndrome

Cais

Feminisation - Testicular

Goldberg - Maxwell Syndrome

Androgen Insensitivity Syndrome, Complete

Morris Syndrome

Ary

AR

Insensitivity Syndrome, Androgen

Androgen Insensitivity Nos

Frasier Syndrome

FS

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

17-Ksr Deficiency

Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency

Pseudohermaphroditism, Male, With Gynecomastia

17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency

Testosterone 17-Beta-Dehydrogenase Deficiency

17-Ketosteroid Reductase Deficiency Of Testis

17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

17-Ketoreductase Deficiency

17-Ketosteroidreductase Deficiency

46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

Male Pseudohermaphroditism With Gynecomastia

17 Alpha Ksr Deficiency

17 Alpha Ketosteroid Reductase Deficiency Of Testis

17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Male Pseudoherma-Phroditism With Gynecomastia

Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency

Male Pseudohermaphrodism With Gynecomastia

MPH

17-Hydroxysteroid Dehydrogenase Deficiency

Septooptic Dysplasia

Septo-Optic Dysplasia

De Morsier Syndrome

Growth Hormone Deficiency With Pituitary Anomalies

SOD

Pituitary Hormone Deficiency, Combined, 5

Septo-Optic Dysplasia Spectrum

Septo-Optic Dysplasia With Growth Hormone Deficiency

Pituitary Hormone Deficiency, Combined 5

Hypopituitarism And Septooptic 'Dysplasia'

GHDPA

CPHD5

Dysplasia, Septo-Optic

Kallmann Syndrome

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

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
Bos taurus NR0B1 VGNC VGNC:32226
Rattus norvegicus NR0B1 RGD RGD:62028
Macaca mulatta NR0B1 VGNC VGNC:103838
Canis familiaris NR0B1 VGNC VGNC:43938
Mus musculus NR0B1 MGD MGI:1352460
Felis catus NR0B1 VGNC VGNC:68540