GHR - growth hormone receptor Gene

Homo sapiens

Also known as GHBP; GHIP

Gene ID: 2690 | Gene type: protein coding

About GHR

Cytogenetic location: 5p13.1-p12 Genomic coordinates (GRCh38): 5:42,423,439-42,721,878 (from NCBI)

This gene has 13 transcripts (splice variants), 422 orthologues, 23 paralogues and is associated with 6 phenotypes. Biased expression in fat (RPKM 43.6), liver (RPKM 35.0) and 7 other tissues.

Summary

This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]

GHR Products(11)

mRNA	Protein	Name
NM_000163.5	NP_000154.1	growth hormone receptor isoform 1 precursor
NM_001242399.2	NP_001229328.1	growth hormone receptor isoform 2 precursor
NM_001242400.2	NP_001229329.1	growth hormone receptor isoform 1 precursor
NM_001242401.4	NP_001229330.1	growth hormone receptor isoform 1 precursor
NM_001242402.2	NP_001229331.1	growth hormone receptor isoform 1 precursor
NM_001242403.3	NP_001229332.1	growth hormone receptor isoform 1 precursor
NM_001242404.2	NP_001229333.1	growth hormone receptor isoform 1 precursor
NM_001242405.2	NP_001229334.1	growth hormone receptor isoform 1 precursor
NM_001242406.2	NP_001229335.1	growth hormone receptor isoform 1 precursor
NM_001242460.1	NP_001229389.1	growth hormone receptor isoform 3 precursor
NM_001242462.1	NP_001229391.1	growth hormone receptor isoform 5 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables growth factor binding	IPI IPI: Inferred from physical interaction	9360546	GOA
enables growth hormone receptor activity	IDA IDA: Inferred from direct assay	1549776	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16116438	GOA
enables lipid binding	EXP EXP: Inferred from Experiment	25846210	GOA
enables peptide hormone binding	IPI IPI: Inferred from physical interaction	1549776	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8943276	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	1549776	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to hormone stimulus	IMP IMP: Inferred from mutant phenotype	7565946	GOA
involved in growth hormone receptor signaling pathway	IDA IDA: Inferred from direct assay	1549776	GOA
involved in growth hormone receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	7565946	GOA
involved in hormone metabolic process	IMP IMP: Inferred from mutant phenotype	8137822	GOA
involved in insulin-like growth factor receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	7565946	GOA
involved in positive regulation of multicellular organism growth	IMP IMP: Inferred from mutant phenotype	2813379	GOA
NOT involved in receptor internalization	IDA IDA: Inferred from direct assay	9360546	GOA
involved in receptor internalization	IDA IDA: Inferred from direct assay	9360546	GOA
NOT involved in response to cycloheximide	IDA IDA: Inferred from direct assay	9360546	GOA
involved in response to cycloheximide	IDA IDA: Inferred from direct assay	9360546	GOA
involved in response to estradiol	IDA IDA: Inferred from direct assay	12552091	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell surface	IDA IDA: Inferred from direct assay	8137822	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	8137822	GOA
located in extracellular space	IMP IMP: Inferred from mutant phenotype	2825030	GOA
part of growth hormone receptor complex	IDA IDA: Inferred from direct assay	1549776	GOA
located in membrane	IDA IDA: Inferred from direct assay	1549776	GOA
is active in plasma membrane	IDA IDA: Inferred from direct assay	2825030	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	8137822	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	8137822	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

GHR Protein Structure

EpoR_lig-bind

fn3

GHBP

0
100
200
300
400
500
600
638 a.a.

Protein Preferred Names

Protein Names

growth hormone receptor

GH receptor

GHR Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GHR	P10912	PTPN3	Homo sapiens	P26045	Array	12907755
Intra	GHR	P10912	PTPN3	Homo sapiens	P26045	Phosphatase Assay	12907755
Intra	GHR	P10912	PTPN3	Homo sapiens	P26045	Far-WB	12907755
Intra	GHR	P10912	PTPRB	Homo sapiens	P23467	Array	12907755
Intra	GHR	P10912	PTPRB	Homo sapiens	P23467	Phosphatase Assay	12907755
Intra	GHR	P10912	PTPRB	Homo sapiens	P23467	Phosphatase Assay	19167335
Intra	GHR	P10912	PTPRH	Homo sapiens	Q9HD43	Array	12907755
Intra	GHR	P10912	PTPRH	Homo sapiens	Q9HD43	Phosphatase Assay	12907755
Intra	GHR	P10912	PTPRJ	Homo sapiens	Q12913	Phosphatase Assay	19167335
Intra	GHR	P10912	PTPN1	Homo sapiens	P18031	Far-WB	12907755
Intra	GHR	P10912	PTPN1	Homo sapiens	P18031	Array	12907755
Intra	GHR	P10912	PTPN2	Homo sapiens	P17706	Far-WB	12907755
Intra	GHR	P10912	PTPN2	Homo sapiens	P17706	Phosphatase Assay	12907755
Intra	GHR	P10912	PTPN2	Homo sapiens	P17706	Array	12907755
Intra	GHR	P10912	NCK1	Homo sapiens	P16333	Peptide Array	17474147
Intra	GHR	P10912	PTPN9	Homo sapiens	P43378	Phosphatase Assay	12907755
Intra	GHR	P10912	PTPN9	Homo sapiens	P43378	Array	12907755
Cross	GHR	P10912	Ncoa6	Rattus norvegicus	Q9JLI4	Pull Down	10866662

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GHR Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72024	Growth Hormone R/GHR Protein, Human (HEK293, hFc)	P10912-1 (A27-Y264)	≥95%
HY-P72204	Growth Hormone R/GHR Protein, Human (His-SUMO)	P10912-1 (F19-Y264)	≥95%
HY-P78869	Growth Hormone R/GHR Protein, Human (Biotinylated, HEK293, His)	P10912-1 (A27-Y264)	≥95%
HY-P700413	Growth Hormone R/GHR Protein, Human (Biotinylated, HEK293, mFc-Avi)	P10912-1 (A27-Y264)	≥95%

Related Diseases

Diseases

Alias

Laron Syndrome

Growth Hormone Insensitivity Syndrome	Growth Hormone Receptor Deficiency
Laron Dwarfism	Pituitary Dwarfism Ii
Laron-Type Isolated Somatotropin Defect	Primary Growth Hormone Resistance
Laron-Type Dwarfism	Laron Type Pituitary Dwarfism I
Primary Growth Hormone Insensitivity	Primary Gh Resistance
Gh-R Deficiency	Growth Hormone Receptor Defect
Laron-Type Pituitary Dwarfism	Laron-Type Short Stature
Severe Gh Insensitivity	Ghis
Short Stature Due To A Defect In Growth Hormone Receptor Or Post-Receptor Pathway	Complete Growth Hormone Insensitivity
Gh Receptor Deficiency	Primary Gh Insensitivity
Short Stature Due To Growth Hormone Resistance	LARS

Growth Hormone Insensitivity, Partial

Short Stature Due To Partial Ghr Deficiency	GHIP
Increased Responsiveness To Growth Hormone	Short Stature Due To Partial Growth Hormone Receptor Deficiency
Isolated Partial Growth Hormone Deficiency	Partial Ighd
Short Stature, Idiopathic, Autosomal

Hypercholesterolemia, Familial, 1

Hypercholesterolemia	FHCL1
Fhc	Fh
Hyperlipoproteinemia, Type Ii	Hyperlipoproteinemia, Type Iia
Hyper-Low-Density-Lipoproteinemia	Hypercholesterolemic Xanthomatosis, Familial
Ldl Receptor Disorder	Hypercholesterolemia, Susceptibility To
Hypercholesterolemia, Familial, Modifier Of	Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of
Ldl Cholesterol Level Qtl2	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial, Type 1	High Cholesterol
Increased Cholesterol	Low-Density-Lipoid-Type Hyperlipoproteinemia
Pure Hypercholesterolaemia	Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia
Group A Hyperlipidaemia	Pure Hypercholesterinaemia
Cholesterolaemia	Essential Cholesterolaemia
Essential Hypercholesterolaemia	Group A Hyperlipemia
Increased Low Density Lipoprotein	Low-Density-Lipoprotein-Type
Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Growth Hormone Deficiency, Isolated Partial

Short Stature Due To Growth Hormone Secretagogue Receptor Deficiency	GHDP
Short Stature Due To Ghsr Deficiency	Ghrelin Receptor Deficiency
Hormone, Growth, Deficiency, Isolated Partial	Short Stature, Idiopathic, Autosomal

Specific Learning Disability

Specific Learning Difficulty

Specific Learning Disorder

Acromegaly

Gigantism	Growth Hormone Excess
Pituitary Giant	Somatotroph Adenoma
Growth Hormone-Secreting Pituitary Adenoma

Insulin-Like Growth Factor I

Insulin-Like Growth Factor I Deficiency	IGF1 DEFICIENCY
Insulin-Like Growth Factor I, Resistance To	Growth Retardation With Deafness And Mental Retardation Due To Igf1 Deficiency
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Growth Delay Due To Insulin-Like Growth Factor I Resistance
IGF1RES	Igf-I Resistance
Somatomedin, End-Organ Insensitivity To	Somatomedin-C
Somatomedin-C, Resistance To	Growth Retardation With Sensorineural Deafness And Mental Retardation
Insulin-Like Growth Factor 1 Resistance To	Igf-1 Resistance
Somatomedin End-Organ Insensitivity To	Somatomedin-C Resistance To
Growth Restriction With Sensorineural Deafness And Intellectual Disability	Growth Delay-Deafness-Intellectual Disability Syndrome
Growth Delay-Hearing Loss-Intellectual Disability Syndrome	Igf-1 Deficiency
Primary Insulin-Like Growth Factor Deficiency	Resistance To Igf-1
Insulin-Like Growth Factor 1 Resistance	End-Organ Insensitivity To Somatomedin
Igf1 Resistance	Resistance To Insulin-Like Growth Factor I
Resistance To Somatomedin-C	Insulin-Like Growth Factor 1, Resistance To

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

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

Uremia

Uremia Of Renal Origin

Anorexia Nervosa

Anorexia Nervosa, Susceptibility To	ANON
Anorexia Nervosa, Susceptibility To, 1	An
Anorexia Nervosa 1	An - [Anorexia Nervosa]

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia	Primordial Dwarfism
Isolated Growth Hormone Deficiency Type Ia	Sexual Ateleiotic Dwarfism
Pituitary Dwarfism I	IGHD1A
Illig-Type Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, Type Ia
Congenital Ighd Type Ia	Congenital Isolated Gh Deficiency Type Ia
Congenital Isolated Growth Hormone Deficiency Type Ia	Pituitary Dwarfism 1
Growth Hormone Deficiency, Isolated, Autosomal Recessive	Autosomal Recessive Isolated Growth Hormone Deficiency
Isolated Growth Hormone Deficiency Type 1a	Congenital Ighd
Congenital Isolated Gh Deficiency	Congenital Isolated Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated Autosomal Recessive	Illig Type Growth Hormone Deficiency
Non-Acquired Isolated Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, 1a
Growth Hormone Deficiency Isolated Autosomal Recessive	Dwarfism, Primordial
Dwarfism

Actinic Keratosis

Solar Keratosis	Actinic Keratosis
Senile Hyperkeratosis	Sk - Solar Keratosis
Keratosis, Actinic	Seborrheic Keratosis
Ak - [Actinic Keratosis]	Sk - [Solar Keratosis]

Pituitary Adenoma

Adenoma Of The Pituitary Gland	Pituitary Adenomas
Adenoma, Pituitary	Pituitary Gland Adenoma
Pituitary Neoplasms

Hypopituitarism

Pituitary Hypofunction	Pituitary Insufficiency
Pituitary Hormone Deficiency	Subpituitarism
Hypophyseal Dystrophy	Hypohypophysism
Anterior Pituitary Insufficiency	Deficient Secretion Of One Or More Pituitary Hormones
Hypopituitarism Syndrome	Pituitary Deficiency
Pituitary Failure	Pituitary Insufficiency Nos
Anterior Pituitary Hypofunction	Deficient Secretion Of All Pituitary Hormones
Hypopituitary Dwarfism	Hyposomatotropic Dwarfism
Hypophyseal Dwarfism	Hypopituitary Cachexia
Hypophyseal Short Stature	Panhypopituitarism Syndrome
Pituitary Cachexia	Juvenile Hypopituitarism
Pituitary Dwarfism	Pituitary Gland Hypofunction
Primary Hypopituitarism	Secondary Hypogonadism
Prepubertal Panhypopituitarism	Prepubertal Dwarfism
Postpartum Panhypopituitary Syndrome	Postpartum Hypopituitarism
Pituitary Short Stature	Pituitary Infantilism
Pituitary Hypogonadism	Pituitary Hypoadrenocorticism

Schizophrenia 11

Sczd11

Schizophrenia Susceptibility Locus, Chromosome 10q-Related

Hypoglycemia

Hypoglycaemia	Low Blood Sugar
Hypoglycaemia Nos	Spontaneous Hypoglycaemia
Nondiabetic Hypoglycaemia	Hypoglycaemic Disorder Nos
Hypoglycaemic Syndrome

Pituitary Hormone Deficiency, Combined, 2

Panhypopituitarism	Combined Pituitary Hormone Deficiency
CPHD2	Ateliotic Dwarfism With Hypogonadism
Pituitary Dwarfism Iii	Hanhart Dwarfism
Simmond'S Disease	Simmonds' Disease
Cphd	Pituitary Hormone Deficiency, Combined
Hormone Deficiency, Pituitary, Combined, Type 2	Pituitary Dwarfism Type 3
Sheehan Syndrome

Hyperpituitarism

Familial Hyperlipidemia

Familial Hyperlipoproteinemia	Hyperlipidaemia
Hyperlipoproteinemias	Hyperlipidemia
Hyperlipemia	Hyperlipidemias

Hyperinsulinism

Hyperinsulinemia

Hypothyroidism

Thyroid Diseases	Thyroid Disease
Thyroid Deficiency	Thyroid Insufficiency
Dysfunction Thyroid	Thyroid Dysfunction

Severe Combined Immunodeficiency, X-Linked

X-Linked Severe Combined Immunodeficiency	SCIDX1
XSCID	Scidx
X-Linked Scid	X-Scid
Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Scid, X-Linked
Immunodeficiency 4	Imd4
Gamma Chain Deficiency	Scid-X1
X-Linked Combined Immunodeficiency Diseases	Thymic Epithelial Hypoplasia
Severe Combined Immunodeficiency T- B+ Due To Gamma Chain Deficiency	Severe Combined Immunodeficiency T- B+, X-Linked
Il2rg Scid, T- B+ Nk-	T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
T-B+ Scid Due To Gamma Chain Deficiency	T-B+ Severe Combined Immunodeficiency, X-Linked
Severe Combined Immunodeficiency X-Linked T-Cell-Negative/B-Cell-Positive/Nk-Cell-Negative	Agammaglobulinemia Swiss Type
Scid X-Linked	Severe Combined Immunodeficiency X-Linked T Cell-Negative/B Cell-Positive/Nk Cell-Negative
Severe Combined Immunodeficiency X-Linked T-Cell Negative/B-Cell Positive/Nk-Cell Negative	Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Gestational Diabetes

Gestational Diabetes Mellitus	GDM
Diabetes Mellitus Arising In Pregnancy	Maternal Gestational Diabetes Mellitus
Diabetes Mellitus, Gestational	Diabetes Mellitus, Pregnancy Related
Diabetes, Pregnancy-Induced	Diabetes Gestational
Diabetes, Gestational	Diabetes Of Pregnancy
Gdm - [Gestational Diabetes Mellitus]	Gestational Diabetes Mellitus Nos
Gestational Diabetes Complicating Pregnancy, Childbirth, Or The Puerperium

Obstructive Jaundice

Jaundice, Obstructive	Cholestatic Jaundice
Cholestatic Jaundice Syndrome	Obstructive Hyperbilirubinemia
Jaundice Obstructive	Jaundice Cholestatic

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome	PWS
Willi-Prader Syndrome	Prader-Willi Syndrome Due To Translocation
Prader-Willi Syndrome Due To Imprinting Mutation	Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Prader Willi Syndrome	Upd(15)Mat

Congenital Hypothyroidism

Cretinism	Neonatal Hypothyroidism
Ch	Cht
Congenital Myxedema	Myxedema, Congenital
Endemic Cretinism	Congenital Iodine-Deficiency Syndrome
Fetal Iodine Deficiency Syndrome	Congenital Iodine-Deficiency Hypothyroidism Nos

Osteoporosis

Postmenopausal Osteoporosis	Osteoporosis, Postmenopausal
Bone Mineral Density Quantitative Trait Locus	Bmnd
Osteoporosis, Involutional	Osteoporosis, Susceptibility To
Osteoporosis, Postmenopausal, Susceptibility	Bone Mineral Density Variation Qtl, Osteoporosis
OSTEOP	Involutional Osteoporosis
Senile Osteoporosis	Osteoporosis Postmenopausal
Bone Mineral Density, Quantitative Trait Locus	Osteoporosis, Senile
Idiopathic Osteoporosis	Bone Rarefaction Nos
Type 1 Osteoporosis

Type 2 Diabetes Mellitus

Insulin Resistance	NIDDM
Type 2 Diabetes	Diabetes Mellitus, Non-Insulin-Dependent
T2D	Noninsulin-Dependent Diabetes Mellitus
Diabetes Mellitus, Type Ii	Maturity-Onset Diabetes
Insulin Resistance, Severe, Digenic	Diabetes Mellitus, Type 2
Diabetes Mellitus, Noninsulin-Dependent	Diabetes Mellitus, Noninsulin-Dependent, Association With
Diabetes Mellitus, Noninsulin-Dependent, Late Onset	Hypertension, Insulin Resistance-Related, Susceptibility To
Insulin Resistance, Susceptibility To	Non-Insulin-Dependent Diabetes Mellitus
Type Ii Diabetes Mellitus	Adult-Onset Diabetes Mellitus
Maturity-Onset Diabetes Mellitus	Diabetes Mellitus Type 2
Type Ii Diabetes	Type 2 Diabetes Mellitus, Susceptibility To
Diabetes, Type 2	Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 2, Susceptibility To
Diabetes Mellitus, Noninsulin-Dependent, 2	Diabetes Mellitus, Type Ii, Susceptibility To
Hypertension, Insulin Resistance-Related	Adult-Onset Diabetes
Aodm	Diabetes Mellitus, Adult-Onset
Diabetes Mellitus Type Ii	Diabetes Mellitus Type 2, Susceptibility To
Diabetes, Type Ii, Susceptibility To	Diabetes Type 2
Diabetes Mellitus	Adult Onset Diabetes
Maturity Onset Diabetes	Nonketotic Diabetes
Non-Insulin Dependent Diabetes Mellitus	T2dm - [Type 2 Diabetes Mellitus]
Niddm - [Non Insulin Dependent Diabetes Mellitus]	Dm2
Dm Type Ii	Diabetic Type 2
Insulin Requiring Type 2 Diabetes	Noninsulin Dependent Diabetes
Non-Insulin-Dependent Diabetes Mellitus Without Complications	Diabetes Due To Insulin Secretory Defect
Diabetes Mellitus Due To Insulin Secretory Defect	Non-Insulin-Dependent Diabetes Of The Young
Senile Diabetes	Nonketotic Hyperglycaemia
Stable Diabetes

Noonan Syndrome 1

Noonan Syndrome	NS1
Male Turner Syndrome	Female Pseudo-Turner Syndrome
Turner Phenotype With Normal Karyotype	Noonan Syndrome With Pigmented Villonodular Synovitis
Turner'S Phenotype, Karyotype Normal	Familial Turner Syndrome
Noonan'S Syndrome	Noonan-Ehmke Syndrome
Ns	Pseudo-Ullrich-Turner Syndrome
Turner Syndrome In Female With X Chromosome	Turner-Like Syndrome
Ullrich-Noonan Syndrome	Noonan-Like/Multiple Giant Cell Lesion Syndrome
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions	Pterygium Colli Syndrome
Noonan Syndrome, Type 1	Turner Syndrome, Male

Pituitary Gland Disease

Pituitary Diseases	Pituitary Dysfunction
Pituitary Disease	Pituitary Deficiency
Pituitary Disorders

Scoliosis

Diabetes Mellitus

Diabetes

Spondylocostal Dysostosis 1, Autosomal Recessive

Jarcho-Levin Syndrome	SCDO1
Vertebral Anomalies	Spondylothoracic Dysplasia
Costovertebral Dysplasia	Spondylothoracic Dysostosis
Spondylocostal Dysostosis 1	Autosomal Recessive Spondylocostal Dysostosis 1
Spondylocostal Dysostosis, Autosomal Recessive, 1	Doid:0112365
Dysostosis, Spondylocostal, Autosomal Recessive, Type 1

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
Obesity , Susceptibility To	BMIQ11
Obesity Bmiq11	Obesity, Early-Onset
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

Three M Syndrome 1

3-M Syndrome	Yakut Short Stature Syndrome
3m Syndrome	Le Merrer Syndrome
Dolichospondylic Dysplasia	Gloomy Face Syndrome
Three M Syndrome	3M1
3m Syndrome 1	Miller-Mckusick-Malvaux Syndrome
3-Msbn	Three-M Slender-Boned Nanism
Miller-Mckusick-Malvaux-Syndrome	3-M Syndrome 1
3m Syndrome-1	3m Syndrome, Type 1
Dwarfism	Dwarfism Tall Vertebrae

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus Type 1
IDDM	Type 1 Diabetes
Insulin-Dependent Diabetes Mellitus	T1D
Juvenile-Onset Diabetes	Jod
Diabetes Mellitus, Type 1	Diabetes Mellitus, Insulin-Dependent-1
Type I Diabetes Mellitus	Autoimmune Diabetes
Juvenile Diabetes	Juvenile-Onset Diabetes Mellitus
Diabetes, Insulin Dependent	Insulin-Dependent Diabetes Mellitus-1
Diabetes Mellitus Insulin-Dependent	Diabetes Autoimmune
Diabetes Mellitus, Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 1, Susceptibility To
Diabetes Type 1	Type I Diabetes
Diabetes, Autoimmune	T1dm - [Type 1 Diabetes Mellitus]
Iddm - [Insulin Dependent Diabetes Mellitus]	Type 1 Iddm
Juvenile Diabetes Mellitus Without Compications	Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications
Juvenile-Onset Diabetes Mellitus Without Compications	Ketosis-Prone Diabetes Mellitus Without Compications
Juvenile-Onset-Type Diabetes Mellitus Without Compications

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

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

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

Clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Phase
HY-164419A	Atesidorsen sodium	Inhibitor	91.84%	Phase 2
HY-153485	Cimdelirsen	Inhibitor	/	Phase 2
HY-153485A	Cimdelirsen sodium	Inhibitor	/	Phase 2
HY-164419	Atesidorsen	Inhibitor	/	Phase 2

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P10283	S1H	Antagonist	/	Unkown
HY-RS05412	GHR Human Pre-designed siRNA Set A		/	Unkown
HY-159697	ISIS 532401		/	Unkown
HY-159697A	ISIS 532401 sodium		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GHR	MGD	MGI:95708
Macaca mulatta	GHR	VGNC	VGNC:72922
Rattus norvegicus	GHR	RGD	RGD:2687
Bos taurus	GHR	VGNC	VGNC:50184
Felis catus	GHR	VGNC	VGNC:62544
Canis familiaris	GHR	VGNC	VGNC:41206
Others	GHR	NCBI