NSD1 - nuclear receptor binding SET domain protein 1 Gene

Also Known as STO; KMT3B; SOTOS; ARA267; SOTOS1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64324

About NSD1

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:177,133,015-177,300,213 (from NCBI)

This gene has 26 transcripts (splice variants), 300 orthologues, 19 paralogues and is associated with 133 phenotypes. Ubiquitous expression in testis (RPKM 4.4), thyroid (RPKM 4.3) and 25 other tissues.

Summary

This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances Androgen Receptor (AR) transactivation, and this enhancement can be increased further in the presence of other Androgen Receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]

NSD1 Products (12)

mRNA Protein Name
NM_001365684.2 NP_001352613.2 histone-lysine N-methyltransferase, H3 lysine-36 specific isoform a
NM_001409301.1 NP_001396230.1 histone-lysine N-methyltransferase, H3 lysine-36 specific isoform b
NM_001409302.1 NP_001396231.1 histone-lysine N-methyltransferase, H3 lysine-36 specific isoform b
NM_001409303.1 NP_001396232.1 histone-lysine N-methyltransferase, H3 lysine-36 specific isoform b
NM_001409304.1 NP_001396233.1 histone-lysine N-methyltransferase, H3 lysine-36 specific isoform c
NM_001409305.1 NP_001396234.1 histone-lysine N-methyltransferase, H3 lysine-36 specific isoform d
NM_001409306.1 NP_001396235.1 histone-lysine N-methyltransferase, H3 lysine-36 specific isoform e
NM_001409307.1 NP_001396236.1 histone-lysine N-methyltransferase, H3 lysine-36 specific isoform e
NM_001409308.1 NP_001396237.1 histone-lysine N-methyltransferase, H3 lysine-36 specific isoform a
NM_001409309.1 NP_001396238.1 histone-lysine N-methyltransferase, H3 lysine-36 specific isoform f
NM_022455.5 NP_071900.2 histone-lysine N-methyltransferase, H3 lysine-36 specific isoform b
NM_172349.5 NP_758859.2 histone-lysine N-methyltransferase, H3 lysine-36 specific isoform a
Molecular Function GO Annotation Evidence Références Source
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
20837538 GOA
enables histone H3K36 methyltransferase activity IDA
IDA: Inferred from direct assay
21196496 GOA
enables histone H3K36 methyltransferase activity IMP
IMP: Inferred from mutant phenotype
20837538 GOA
enables nuclear androgen receptor binding IDA
IDA: Inferred from direct assay
11509567 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20080798 GOA
enables transcription coregulator activity IDA
IDA: Inferred from direct assay
11509567 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
21196496 GOA
Biological Process GO Annotation Evidence Références Source
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
11509567 GOA
acts upstream of or within regulation of RNA polymerase II regulatory region sequence-specific DNA binding IMP
IMP: Inferred from mutant phenotype
20837538 GOA
acts upstream of or within regulation of peptidyl-serine phosphorylation IMP
IMP: Inferred from mutant phenotype
20837538 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

NSD1 Protein Structure

PWWP

PWWP: PWWP domain (321 - 414)

PHD

PHD: PHD-finger (1709 - 1750)

PWWP

PWWP: PWWP domain (1756 - 1842)

SET

SET: SET domain (1953 - 2059)

  • 0
  • 500
  • 1000
  • 1500
  • 2000
  • 2500
  • 2696 a.a.
Protein Preferred Names Protein Names

histone-lysine N-methyltransferase, H3 lysine-36 specific

  • H3-K36-HMTase

NSD1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
NSD1 Q96L73 H2BC21 Homo sapiens Q16778 30021884
Cross: Cross-species interaction Intra: Intraspecies interaction

NSD1 Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P85445 NSD1 Antibody (YA5137) WB Human

Related Diseases

Diseases Alias
Sotos Syndrome
  • Cerebral Gigantism

  • SOTOS

  • Chromosome 5q35 Deletion Syndrome

  • Sotos Syndrome 1, Formerly

  • Sotos1, Formerly

  • Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

  • Sotos Sequence

  • Sotos' Syndrome

  • Sotos1

  • Sotos Syndrome 1

Sotos Syndrome 1
  • Sotos1

  • Sotos Syndrome, Type 1

  • Sotos' Syndrome

Beckwith-Wiedemann Syndrome
  • Wiedemann-Beckwith Syndrome

  • BWS

  • Exomphalos-Macroglossia-Gigantism Syndrome

  • Emg Syndrome

  • Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

  • Emg Abnormality

  • Wbs

  • Exomphalos Macroglossia Gigantism Syndrome

  • Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

  • Macroglossia Exomphalos Gigantism

Hypertelorism
  • Eyes Wide Apart

  • Eyes Widely Set

  • Hypertelorism Of Orbit

  • Ocular Hypertelorism

  • Orbital Separation Excessive

Uvula, Bifid
  • Bifid Uvula

  • Uvular Cleft

  • Uvula, Cleft

  • Bifidity Of The Uvula

Scoliosis
Farsightedness
  • Hypermetropia

  • Hyperopia

  • Far-Sightedness

  • Farsighted

  • Long-Sighted

  • Long-Sightedness

Pectus Carinatum
  • Carinatum Deformity Of The Chest

Patent Foramen Ovale
  • Atrial Septal Defect Within Oval Fossa

  • Foramen Ovale Patent

  • Ostium Secundum Atrial Septal Defect

  • Atrial Septal Defect, Ostium Secundum Type

  • Foramen Ovale, Patent

  • Defect, Patent Or Persistent, Ostium Secundum

  • Ostium Secundum Type Atrial Septal Defect

  • Persistent Ostium Secundum

  • Asd Ostium Secundum Type

  • Ostium Secundum Asd

  • Osasd

  • Asd, Ostium Secundum Type

  • Pfo - [Patent Foramen Ovale]

  • Open Foramen Ovale

  • Open Oval Foramen

  • Persistent Foramen Ovale

  • Secundum Atrial Septal Defect

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

Cleft Palate, Isolated
  • Cleft Palate

  • Isolated Cleft Palate

  • CPI

  • Cp

  • Palatoschisis

  • Cleft Palate Isolated

  • Uranostaphyloschisis

  • Congenital Fissure Of Palate

  • Cleft Of Secondary Palate

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

Hydrops Fetalis, Nonimmune
  • Hydrops Fetalis

  • Non-Immune Hydrops Fetalis

  • NIHF

  • Familial Non-Immune Hydrops Fetalis

  • Hydrops Fetalis Nonimmune

  • Idiopathic Hydrops Fetalis

  • Hb Bart'S Hydrops Fetalis

  • Alpha-Thalassemia Hydrops Fetalis

  • Alpha-Thalassemia Major

  • Hemoglobin Bart'S Hydrops Fetalis

  • Homozygous Alpha0-Thalassemia

  • Fetal Anasarca

  • Fetal Hydrops

  • Generalized Fetal Edema

  • Hf

  • Non-Immune Hf

  • Non-Immune Fetal Edema

  • Non-Immune Fetal Hydrops

  • Hydrops Fetalis, Non-Immune

  • Hemoglobin Bart'S Hydrops Syndrome

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Childhood Acute Myeloid Leukemia
  • Childhood Acute Myeloid Leukaemia

  • Paediatric Acute Myeloid Leukaemia

  • Pediatric Acute Myeloid Leukemia

Weaver Syndrome
  • Wss

  • Weaver-Smith Syndrome

  • WVS

  • Weaver-Like Syndrome

  • Weaver-Williams Syndrome

  • Camptodactyly-Overgrowth-Unusual Facies Syndrome

  • Camptodactyly - Overgrowth - Unusual Facies

  • Ezh2 Related Overgrowth

  • Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

  • Weaver Smith Syndrome

  • Weaver Like Syndrome

  • Weaver Williams Syndrome

  • Camptodactyly-Overgrowth-Unusual Facies

  • Weaver Syndrome 1

  • Weaver Syndrome 2

  • Wvs1

  • Wvs2

5q35 Microduplication Syndrome
  • Dup(5)(Q35)

  • Trisomy 5q35

Overgrowth Syndrome
  • Overgrowth

  • Congenital Malformation Syndromes Involving Early Overgrowth

Holoprosencephaly 2
  • HPE2

  • Holoprosencephaly-2

  • Holoprosencephaly, Type 2

Deletion 5q35
  • Del (5)(Q35)

  • Del (5)(Qter)

  • Distal 5q Deletion

  • Monosomy 5q35

  • Telomeric Deletion 5q

  • Chromosome 5, Monosomy 5q35

Myeloid Leukemia
  • Myeloid Leukaemia

  • Leukaemia Myelogenous

  • Leukemia Myelogenous

  • Myeloid Granulocytic Leukaemia

  • Myeloid Granulocytic Leukemia

  • Non-Lymphocytic Leukemia

  • Leukemia, Myeloid

  • Granulocytic Leukaemia

  • Myelogenous Leukaemia

  • Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Sotos Syndrome 2
  • Sotos2

  • Sotos Syndrome, Type 2

Pre-Eclampsia
  • Preeclampsia

  • Gestational Hypertension

  • Hypertension Induced By Pregnancy

  • Pre-Eclamptic Toxaemia

  • Pregnancy Associated Hypertension

  • Proteinuric Hypertension Of Pregnancy

  • Hypertension, Pregnancy-Induced, Susceptibility To

  • Preeclampsia/Eclampsia

  • Pregnancy Toxemia

  • Toxaemia Of Pregnancy

  • Gestational Proteinuric Hypertension

  • Pregnancy-Induced Hypertension

  • Toxemia Of Pregnancy

  • Preeclampsia, Susceptibility To

  • Transient Hypertension Of Pregnancy

  • Gestational [Pregnancy-Induced] Hypertension Without Significant Proteinuria

  • Gestational Hypertension Nos

  • Mild Proteinuric Hypertension Of Pregnancy

  • Pih - [Pregnancy-Induced Hypertension]

  • Pregnancy-Induced Hypertension Nos

  • Gestational [Pregnancy-Induced] Hypertension With Significant Proteinuria

  • Pe - [Pre-Eclampsia]

  • Pre-Eclampsia Nos

  • Pre-Eclamptic Nos

  • Pregnancy Pre-Eclampsia

  • Puerperal Pre-Eclampsia

  • Pre-Eclampsia Toxaemia

  • Toxaemia In Pregnancy

  • Pet - [Pre-Eclamptic Toxaemia]

  • Maternal Toxaemia

Marshall-Smith Syndrome
  • MRSHSS

  • Accelerated Skeletal Maturation-Facial Dysmorphism-Failure To Thrive Syndrome

  • Mss

Omphalocele
  • Omphalocoele

  • Congenital Omphalocele

  • Exomphalos

  • Exumbilication

Tatton-Brown-Rahman Syndrome
  • TBRS

  • Dnmt3a Overgrowth Syndrome

  • Tatton-Brown-Rahman Overgrowth Syndrome

  • Dos

  • Dnmt3a-Related Overgrowth Syndrome

  • Doid:0112339

  • Dose

Intellectual Developmental Disorder, Autosomal Dominant 1
  • MRD1

  • Autosomal Dominant Non-Syndromic Intellectual Disability 1

  • Mental Retardation, Autosomal Dominant 1

  • Autosomal Dominant Intellectual Developmental Disorder 1

Lung Squamous Cell Carcinoma
  • Squamous Cell Carcinoma Of Lung

  • Squamous Cell Lung Carcinoma

  • Epidermoid Cell Carcinoma Of The Lung

  • Squamous Cell Lung Cancer

Ganglioglioma
  • Childhood Ganglioglioma

  • Adult Ganglioglioma

  • Cns Ganglioglioma

  • Mixed Cell Tumors Containing Both Neural Ganglionic Cells And Neural Glial Cell Components

Alpha-Thalassemia
  • Alpha Thalassemia

  • Alpha Thalassaemia

  • Alpha Plus Thalassemia

  • Thalassemia, Alpha-

  • Thalassemias, Alpha-

  • A-Thalassemia

  • Α-Thalassemia

  • A-THAL

  • Thalassemia

  • Alpha Thalassaemia Syndrome

Sotos Syndrome 3
  • Sotos3

  • Sotos Syndrome, Type 3

Uterine Corpus Endometrial Carcinoma
Laryngeal Benign Neoplasm
  • Laryngeal Tumor

  • Larynx Neoplasm

  • Neoplasm Of Larynx

  • Laryngeal Cancer

  • Laryngeal Carcinoma

  • Cancer Of Larynx

Subglottis Benign Neoplasm
  • Subglottic Tumor

Macroglossia
  • Congenital Macroglossia

  • Enlarged Tongue

  • Giant Tongue

  • Acquired Macroglossia Nos

  • Congenital Hypertrophy Of Tongue

Cornelia De Lange Syndrome 5
  • CDLS5

  • Cornelia De Lange Syndrome, Type 5

Childhood Leukemia
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome
  • Catshl Syndrome

  • Camptodactyly-Tall Stature-Scoliosis-Deafness Syndrome

Kleefstra Syndrome
  • 9q34.3 Microdeletion Syndrome

  • 9q Subtelomeric Deletion Syndrome

  • 9q- Syndrome

  • Chromosome 9q Deletion Syndrome

  • 9q34.3 Deletion Syndrome

  • 9qstds

  • Chromosome 9q34.3 Deletion Syndrome

  • Chromosome 9, Trisomy 9q

Wolf-Hirschhorn Syndrome
  • Pitt-Rogers-Danks Syndrome

  • WHS

  • Chromosome 4p16.3 Deletion Syndrome

  • Wittwer Syndrome

  • 4p- Syndrome

  • Pitt Syndrome

  • 4p Deletion Syndrome

  • Distal Deletion 4p

  • Distal Monosomy 4p

  • Telomeric Deletion 4p

  • Prds

  • 4p Syndrome

  • Chromosome 4p Syndrome

  • Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

  • Wolf Syndrome

  • Chromosome 4p Deletion Syndrome

  • Chromosome 4p Monosomy

  • Del Syndrome

  • Monosomy 4p

  • Partial Monosomy 4p

  • Chromosome 4 Short Arm Deletion

Alpha Thalassemia-X-Linked Intellectual Disability Syndrome
  • Atr-X Syndrome

  • Atr, Nondeletion Type

  • Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

  • Atrx Syndrome

  • Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type

  • Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked

  • X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome

  • Xlmr Hypotonic Face Syndrome

  • Alpha Thalassemia X-Linked Intellectual Disability Syndrome

  • Alpha Thalassemia X-Linked Mental Retardation Syndrome

  • Alpha Thalassemia/Mental Retardation, X-Linked

  • Alpha-Thalassemia X-Linked Mental Retardation Syndrome

  • Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type

  • X-Linked Alpha-Thalassemia/Mental Retardation Syndrome

  • Xlmr-Hypotonic Face Syndrome

  • Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome

  • Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked

Cowden Syndrome 1
  • Bannayan-Riley-Ruvalcaba Syndrome

  • Pten Hamartoma Tumor Syndrome

  • Lhermitte-Duclos Disease

  • Bannayan-Zonana Syndrome

  • Phts

  • Riley-Smith Syndrome

  • Bzs

  • Ruvalcaba-Myhre-Smith Syndrome

  • Multiple Hamartoma Syndrome

  • Rmss

  • Brrs

  • Dysplastic Gangliocytoma Of The Cerebellum

  • CWS1

  • Cs

  • Cd

  • Mham

  • Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

  • Macrocephaly Multiple Lipomas And Hemangiomata

  • Bannayan-Ruvalcaba-Riley Syndrome

  • Myhre-Riley-Smith Syndrome

  • LDD

  • Cerebelloparenchymal Disorder Vi

  • Hamartoma Syndrome, Multiple

  • Bbrs

  • Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

  • Macrocephaly, Multiple Lipomas, And Hemangiomata

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomas

  • Ruvalcaba -Myhre-Smith Syndrome

  • Ruvalcaba-Myhre Syndrome

  • Cowden Disease

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomata

  • Cerebellar Granule Cell Hypertrophy And Megalencephaly

  • Cpd6

  • Pten Hamartoma Tumor Syndromes

  • Cowden Syndrome, Type 1

Kabuki Syndrome 1
  • Kabuki Syndrome

  • Niikawa-Kuroki Syndrome

  • Kabuki Make-Up Syndrome

  • Kms

  • KABUK1

  • Kabuki Make Up Syndrome

  • Nks

  • Kabuki Makeup Syndrome

  • Kabuki Syndrome, Type 1

Myelodysplastic Syndrome
  • Myelodysplastic Syndromes

  • Myelodysplasia

  • MDS

  • Myelodysplastic Syndrome Included

  • Myelodysplastic Syndrome, Susceptibility To, Included

  • Myelodysplastic Syndrome, Somatic

  • Myelodysplastic Syndrome, Susceptibility To

Cornelia De Lange Syndrome 1
  • De Lange Syndrome

  • CDLS1

  • Cdl

  • Cdls

  • Typus Degenerativus Amstelodamensis

  • Brachmann-De Lange Syndrome

  • Bdls

  • Amstelodamensis Typus Degenerativus

  • Cornelia De Lange Syndrome, Type 1

Heart Disease
  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Heart Malformation

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure

Neuropathy, Hereditary Sensory, Type Ie
  • HSN1E

  • Hsn Ie

  • Hereditary Sensory Neuropathy Type 1e

  • Hereditary Sensory Neuropathy Type Ie

  • Hsan 1

  • Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia

  • Hereditary Sensory Neuropathy Type 1

  • Hsn1

  • Hereditary Sensory And Autonomic Neuropathy Type 1

  • Neuropathy Hereditary Sensory And Autonomic Type 1

  • Neuropathy Hereditary Sensory Radicular, Autosomal Dominant

  • Neuropathy, Hereditary Sensory, 1e

  • Neuropathy Hereditary Sensory With Hearing Loss And Dementia

  • Neuropathy, Hereditary Sensory, Type I

  • Neuropathy, Sensory, Hereditary, Type Ie

  • Hereditary Sensory And Autonomic Neuropathy Type Ie

  • Hereditary Sensory Autonomic Neuropathy, Type 1

Learning Disability
  • Learning Disabilities

  • Learning Disorders

  • Academic Skill Disorder

  • Learning Disorder

Syndromic Intellectual Disability
Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Chromosome 16p13.3 Deletion Syndrome, Proximal
  • Rubinstein-Taybi Syndrome

  • Broad Thumb-Hallux Syndrome

  • Chromosome 16p13.3 Deletion Syndrome

  • Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion

  • Rubinstein Syndrome

  • Broad Thumbs-Halluces Syndrome

  • Rsts

  • Rubinstein-Taybi Deletion Syndrome

  • Rsts Deletion Syndrome

  • Proximal Chromosome 16p13.3 Deletion Syndrome

  • 16p13.3 Deletion Syndrome

  • Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability

  • Rts

Patent Ductus Arteriosus 1
  • Patent Ductus Arteriosus

  • PDA1

  • Pda

  • Ductus Arteriosus, Patent

  • Patent Ductus Arteriosus, Susceptibility To

  • Patent Ductus Botalli

  • Patency Of The Ductus Arteriosus

  • Patent Ductus Arteriosus Familial

  • Ductus Arteriosus Patent

  • Patent Ductus Arteriosus - Persisting Type

Cornelia De Lange Syndrome
  • De Lange Syndrome

  • Brachmann De Lange Syndrome

  • Brachmann-De Lange Syndrome

  • Cdls

  • Bdls

  • Typus Degenerativus Amstelodamensis

Atrial Heart Septal Defect
  • Atrial Septal Defect

  • Atrial Septal Defects

  • Atrioseptal Defect

  • Auricular Septal Defect

  • Congenital Atrial Septal Defect

  • Interatrial Septal Defect

  • Interauricular Septal Defect

  • Heart Septal Defects, Atrial

  • Septal Defect, Atrial

Williams-Beuren Syndrome
  • Williams Syndrome

  • WBS

  • Wms

  • Deletion 7q11.23

  • Monosomy 7q11.23

  • Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

  • Fanconi Schlesinger Syndrome

  • Beuren Syndrome

  • Elfin Facies Syndrome

  • Elfin Facies With Hypercalcemia

  • Hypercalcemia-Supravalvar Aortic Stenosis

  • Ws

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 NSD1 RGD RGD:1307748
Mus musculus NSD1 MGD MGI:1276545
Macaca mulatta NSD1 VGNC VGNC:75401
Bos taurus NSD1 VGNC VGNC:55067
Canis familiaris NSD1 VGNC VGNC:43980
Felis catus NSD1 VGNC VGNC:63885
Others NSD1 NCBI