SMAD9 - SMAD family member 9 Gene

Also Known as PPH2; MADH6; MADH9; SMAD8; SMAD8A; SMAD8B; SMAD8/9

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4093

About SMAD9

Cytogenetic location: 13q13.3 Genomic coordinates (GRCh38): 13:36,844,831-36,920,854 (from NCBI)

This gene has 4 transcripts (splice variants), 66 orthologues, 7 paralogues and is associated with 2 phenotypes. Broad expression in thyroid (RPKM 18.3), prostate (RPKM 5.8) and 17 other tissues.

Summary

The protein encoded by this gene is a member of the Smad Family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

SMAD9 Products (3)

mRNA Protein Name
NM_001127217.3 NP_001120689.1 mothers against decapentaplegic homolog 9 isoform a
NM_001378621.1 NP_001365550.1 mothers against decapentaplegic homolog 9 isoform b
NM_005905.6 NP_005896.1 mothers against decapentaplegic homolog 9 isoform b
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15231748 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

SMAD9 Protein Structure

MH1

MH1: MH1 domain (35 - 135)

MH2

MH2: MH2 domain (268 - 444)

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

mothers against decapentaplegic homolog 9

  • MAD homolog 9

SMAD9 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SMAD9 O15198 LEMD3 Homo sapiens Q9Y2U8
Y2H
15231748
Intra
SMAD9 O15198 LEMD3 Homo sapiens Q9Y2U8 33961781
Intra
SMAD9 O15198 SMAD4 Homo sapiens Q13485 31515488
Intra
SMAD9 O15198 SMAD4 Homo sapiens Q13485
Y2H
25502805
Intra
SMAD9 O15198 PRMT6 Homo sapiens Q96LA8 23455924
Intra
SMAD9 O15198 PRMT6 Homo sapiens Q96LA8
Y2H
23455924
Cross: Cross-species interaction Intra: Intraspecies interaction

SMAD9 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83771 Phospho-Smad1/5/9 (S463/S465/S467)Antibody(YA3567) WB, IHC-P, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
Pulmonary Hypertension, Primary, 2
  • PPH2

  • Hypertension, Pulmonary, Primary, Type 2

Heritable Pulmonary Arterial Hypertension
  • Fpah

  • Familial Pulmonary Arterial Hypertension

  • Hpah

  • Hereditary Pulmonary Arterial Hypertension

  • Familial Primary Pulmonary Hypertension

Pulmonary Arterial Hypertension Associated With Congenital Heart Disease
  • Pah Associated With Congenital Heart Disease

Pulmonary Hypertension
  • Primary Pulmonary Hypertension

  • Hypertension Pulmonary

  • Hypertension, Pulmonary

  • Hypertension, Pulmonary, Primary

  • Idiopathic Pulmonary Hypertension

  • Idiopathic Pulmonary Arterial Hypertension

  • Pulmonary Htn - [Hypertension]

Monocular Esotropia
  • Esotropia

Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
  • Multiple Epiphyseal Dysplasia, Beighton Type

  • EDMMD

  • Epiphyseal Dysplasia, Multiple, With Myopia And Deafness

  • Multiple Epiphyseal Dysplasia With Myopia And Deafness

  • Multiple Epiphyseal Dysplasia-Myopia-Deafness Syndrome

  • Multiple Epiphyseal Dysplasia-Myopia-Hearing Loss Syndrome

  • Multiple Epiphyseal Dysplasia With Myopia And Conductive Deafness

  • Dysplasia, Epiphyseal, Multiple, With Myopia And Deafness

Pulmonary Venoocclusive Disease
  • Pulmonary Veno-Occlusive Disease

  • Obstructive Disease Of The Pulmonary Veins

  • Pvod

  • Isolated Pulmonary Venous Sclerosis

  • Venous Form Of Primary Pulmonary Hypertension

  • Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Coenzyme Q10 Deficiency, Primary, 1
  • COQ10D1

  • Ubiquinone Deficiency 1

  • Coenzyme Q Deficiency 1

  • Coq Deficiency 1

  • Coq10 Deficiency, Primary, 1

  • Primary Coenzyme Q10 Deficiency 1

  • Primary Coq10 Deficiency 1

  • Coenzyme Q10 Deficiency, Primary, Type 1

Deafness, Autosomal Dominant 69
  • DCUA

  • DFNA69

  • Deafness, Congenital, Unilateral Or Asymmetric

  • Deafness, Autosomal Dominant 69, Unilateral Or Asymmetric

  • Autosomal Dominant Nonsyndromic Deafness 69

  • Autosomal Dominant Deafness 69

  • Unilateral Or Asymmetric Congenital Deafness

Syndromic X-Linked Intellectual Disability 94
  • Mrx94

  • Mrxs29

  • Syndromic X-Linked Intellectual Disability Due To Gria3 Anomalies

  • Syndromic X-Linked Mental Retardation 29

  • Syndromic X-Linked Mental Retardation Wu Type

Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders
  • X-Linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome

  • EPILX

  • X-Linked Epilepsy With Variable Learning Disabilities And Behavior Disorders

  • Epilepsy, X-Linked, With Reflex Bathing Seizures

  • Bathing Epilepsy, X-Linked

Ciliary Dyskinesia, Primary, 3
  • Primary Ciliary Dyskinesia 3

  • CILD3

  • Ciliary Dyskinesia, Primary, 3, With Or Without Situs Inversus

  • Primary Ciliary Dyskinesia 3 With Or Without Situs Inversus

  • Ics3

  • Immotile Cilia Syndrome 3

  • Dyskinesia, Ciliary, Primary, 3

Immunodeficiency 31c
  • IMD31C

  • Candidiasis, Familial, 7

  • Candf7

  • Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant

  • Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome

  • Autoimmune Enteropathy And Endocrinopathy - Susceptibility To Chronic Infections Syndrome

  • Immunodeficiency 31c, Chronic Mucocutaneous Candidiasis, Autosomal Dominant

  • Autosomal Dominant Chronic Mucocutaneous Familial Candidiasis

  • Autosomal Dominant Immunodeficiency 31c

  • Familial Candidiasis 7

  • Chronic Mucocutaneous Candidiasis 7

  • Immunodeficiency 31c, Autosomal Dominant

  • Immunodeficiency, Type 31c, Autosomal Dominant

Chronic Pulmonary Heart Disease
Microcephaly And Chorioretinopathy 1
Joubert Syndrome 33
  • JBTS33

  • Joubert Syndrome, Type 33

46,Xy Sex Reversal 9
  • SRXY9

  • 46,Xy Sex Reversal, Zfpm2-Related

  • 46xy Sex Reversal 9

Spondyloepimetaphyseal Dysplasia, Strudwick Type
  • Spondylometaphyseal Dysplasia

  • Strudwick Syndrome

  • Dappled Metaphysis Syndrome

  • Semd, Strudwick Type

  • Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type

  • Smed, Strudwick Type

  • Smd

  • Smed Strudwick Type

  • SEMDSTWK

  • Smed, Type I

  • Semdc

  • Smed Type 1

  • Spondyloepimetaphyseal Dysplasia Strudwick Type

  • Sed Strudwick

  • Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type

  • Smed Type I

  • Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses

  • Dysplasia, Spondyloepimetaphyseal, Strudwick Type

  • Dysplasia, Spondylometaphyseal

Cowden Syndrome 6
  • CWS6

  • Cowden Syndrome, Type 6

Developmental And Epileptic Encephalopathy 60
  • DEE60

  • Epileptic Encephalopathy, Early Infantile, 60

  • Eiee60

  • Developmental And Epileptic Encephalopathy, 60

  • Early Infantile Epileptic Encephalopathy 60

Neuropathy, Hereditary Sensory, Type Id
  • HSN1D

  • Hereditary Sensory Neuropathy Type 1d

  • Neuropathy, Hereditary Sensory, Type 1d

  • Neuropathy, Hereditary Sensory, 1d

  • Hereditary Sensory Neuropathy Type Id

  • Neuropathy, Sensory, Hereditary, Type Id

Ectodermal Dysplasia 5, Hair/Nail Type
  • ECTD5

  • Ectodermal Dysplasia 5

Ectodermal Dysplasia 6, Hair/Nail Type
  • ECTD6

  • Ectodermal Dysplasia 6

Ectodermal Dysplasia 7, Hair/Nail Type
  • ECTD7

  • Ectodermal Dysplasia 7

  • Dysplasia, Ectodermal, Type 7, Hair/Nail

Mitochondrial Complex I Deficiency, Nuclear Type 16
  • MC1DN16

  • Nuclear Type Mitochondrial Complex I Deficiency 16

  • Mitochondrial Complex 1 Deficiency, Nuclear Type 16

Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
  • CMTX2

  • Charcot-Marie-Tooth Disease X-Linked Recessive 2

  • X-Linked Charcot-Marie-Tooth Disease Type 2

  • Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2

  • Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2

  • Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive

Chromosome 2q35 Duplication Syndrome
  • Syndactyly

  • Syndactyly Type 1

  • Sdty1

  • Zygodactyly

  • Syndactyly, Type I

  • Sd1

  • Syndactyly, Type 1, With Or Without Craniosynostosis

  • Symphalangism

  • Non-Syndromic Syndactyly

  • Symphalangy

  • Webbing Of Digits

  • Syndactyly, Type 1

Neuropathy, Hereditary Sensory And Autonomic, Type Iia
  • Hereditary Sensory And Autonomic Neuropathy Type 2

  • Hsan2

  • HSAN2A

  • Morvan Disease

  • Hereditary Sensory And Autonomic Neuropathy Type Ii

  • Neurogenic Acroosteolysis

  • Hsan Iia

  • Hsn2a

  • Hsn Iia

  • Neuropathy, Progressive Sensory, Of Children

  • Neuropathy, Congenital Sensory

  • Neuropathy, Hereditary Sensory And Autonomic, Type Ii

  • Hereditary Sensory And Autonomic Neuropathy Type 2a

  • Hereditary Sensory And Autonomic Neuropathy Type Iia

  • Hsanii

  • Congenital Sensory Neuropathy

  • Hsan Type Ii

  • Morvan Syndrome

  • Neuropathy, Hereditary Sensory And Autonomic, Type 2a

  • Morvan'S Disease

  • Neuropathy, Hereditary Sensory, Type Iia

  • Acroosteolysis, Neurogenic

  • Acroosteolysis, Giaccai Type

  • Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive

  • Hereditary Sensory Autonomic Neuropathy Type 2

  • Giaccai Type Acroosteolysis

  • Hereditary Sensory Neuropathy Type 2

  • Hereditary Sensory Radicular Neuropathy, Recessive Form

  • Hsan2b

  • Hsan2c

  • Hsan2d

  • Hsn Type Ii

  • Autosomal Recessive Sensory Radicular Neuropathy

  • Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome

  • Morvan Fibrillary Chorea

  • Neuropathy, Hereditary Sensory And Autonomic, 2a

  • Acroosteolysis Giaccai Type

  • Hereditary Sensory Neuropathy Type Iia

  • Hereditary Sensory Radicular Neuropathy Autosomal Recessive

  • Progressive Sensory Neuropathy Of Children

  • Neuropathy Congenital Sensory

  • Charcot-Marie-Tooth Disease

  • Neuropathy, Sensory And Autonomic, Hereditary, Type Iia

  • Hereditary Sensory Autonomic Neuropathy, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

  • Sensory Neuropathy, Hereditary

  • Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Mitochondrial Dna Depletion Syndrome 12b
Charcot-Marie-Tooth Disease, Axonal, Type 2e
  • Charcot-Marie-Tooth Disease Type 2

  • CMT2E

  • CMT2S

  • CMT2Y

  • Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease Axonal Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2s

  • Charcot-Marie-Tooth Disease, Type 2e

  • Hereditary Motor And Sensory Neuropathy Type 2

  • Charcot-Marie-Tooth Neuropathy, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2y

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

  • Charcot-Marie-Tooth Neuropathy, Type 2y

  • Charcot-Marie-Tooth Disease, Type 2y

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Neuropathy Type 2e

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

  • Cmt2 Due To Vcp Mutation

  • Charcot-Marie-Tooth Disease Type 2s

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

  • Cmt2

  • Charcot-Marie-Tooth Neuropathy, Type 2e

  • Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

  • Hereditary Motor And Sensory Neuropathy Okinawa Type

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

  • Charcot-Marie-Tooth Neuropathy Type 2y

  • Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

  • Charcot-Marie-Tooth Neuropathy Type 2s

  • Charcot-Marie-Tooth Type 2

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease 2e

  • Charcot-Marie-Tooth Disease Axonal Type 2e

  • Charcot-Marie-Tooth Disease Neuronal Type 2e

  • Charcot-Marie-Tooth Disease 2s

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2s

  • Charcot-Marie-Tooth Disease 2y

  • Charcot-Marie-Tooth Disease, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

Lethal Congenital Contracture Syndrome 4
  • LCCS4

  • Contracture Syndrome, Lethal, Congenital, Type 4

Hypermethioninemia Due To Adenosine Kinase Deficiency
  • Adk Hypermethioninemia

  • Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency

  • Hypermethioninemia Encephalopathy Due To Adk Deficiency

  • Mrt8

  • Mental Retardation, Autosomal Recessive 8, Formerly

  • Mrt8, Formerly

  • HMAKD

  • Mental Retardation, Autosomal Recessive 8

Distal Arthrogryposis
  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis

  • Congenital Multiple Arthrogryposis

  • Congenital Arthromyodysplasia

  • Fibrous Ankylosis Of Multiple Joints

  • Guerin-Stern Syndrome

  • Guérin-Stern Syndrome

  • Myodystrophia Fetalis Deformans

  • Otto Syndrome

  • Rocher-Sheldon Syndrome

  • Rossi Syndrome

  • Amc

  • Multiple Congenital Arthrogryposis

  • Arthrogryposis Syndrome

  • Arthrogryposis, Distal

  • Distal Arthrogryposis Syndrome

  • Freeman-Sheldon Syndrome

  • Arthrogryposis, Distal, Type 2b

  • Congenital Multiplex Arthrogryposis

  • Amyoplasia Congenita

  • Congenital Amyoplasia

  • Amc - [Arthrogryposis Multiplex Congenita]

Esotropia
  • Convergence In Manifest Squint

  • Crossed Eyes

  • Internal Strabismus

  • Convergent Concomitant Strabismus

  • Convergent Squint

  • Convergent Strabismus

  • Cross-Eye

Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
  • Hypophosphatemic Nephrolithiasis/Osteoporosis 1

  • NPHLOP1

  • Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1

  • Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1

Hereditary Hemorrhagic Telangiectasia
  • Rendu-Osler-Weber Disease

  • Hht

  • Osler-Weber-Rendu Disease

  • Telangiectasia, Hereditary Hemorrhagic

  • Osler Hemorrhagic Telangiectasia Syndrome

  • Orw Disease

  • Osler Weber Rendu Syndrome

  • Osler-Rendu-Weber Disease

  • Osler-Weber-Rendu Syndrome

  • Rendu-Osler Disease

  • Telangiectasia Hereditary Hemorrhagic

  • Telangiectasia Hemorrhagic, Hereditary

  • Hht - [Hereditary Haemorrhagic Telangiectasia]

  • Osler Haemorrhagic Telangiectasia Syndrome

Developmental And Epileptic Encephalopathy 11
  • Epileptic Encephalopathy, Early Infantile, 11

  • DEE11

  • Eiee11

  • Developmental And Epileptic Encephalopathy, 11

  • Early Infantile Epileptic Encephalopathy 11

  • Encephalopathy, Developmental And Epileptic, Type 11

Arteriovenous Malformation
  • Arteriovenous Malformations

  • Arteriovenous Hemangioma

  • Cirsoid Aneurysm

  • Racemose Aneurysm

  • Racemose Angioma

  • Racemose Hemangioma

  • Congenital Arteriovenous Malformation

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

Cleft Palate, Isolated
  • Cleft Palate

  • Isolated Cleft Palate

  • CPI

  • Cp

  • Palatoschisis

  • Cleft Palate Isolated

  • Uranostaphyloschisis

  • Congenital Fissure Of Palate

  • Cleft Of Secondary Palate

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

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

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

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

Strabismus
  • Strabismus, Susceptibility To

  • Strabismus, Susceptibility To, 1

  • Strabismus 1

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

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Tetralogy Of Fallot
  • TOF

  • Fallot Tetralogy

  • Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

  • Tetrad Of Fallot

  • Fallot Tetrad

  • Fallot Disease

  • Fallot Complex

  • Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

  • Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

  • Interventricular Septal Defect, In Tetralogy Of Fallot

  • Ventricular Septal Defect With Obstructed Right Ventricular Outflow

  • Tof - [Tetralogy Of Fallot]

  • Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

  • Pulmonary Atresia, Ventricular Septal Defect And Mapcas

  • Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Leber Plus Disease
  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

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
Canis familiaris SMAD9 VGNC VGNC:46525
Mus musculus SMAD9 MGD MGI:1859993
Macaca mulatta SMAD9 VGNC VGNC:77815
Felis catus SMAD9 VGNC VGNC:68134
Rattus norvegicus SMAD9 RGD RGD:71004
Bos taurus SMAD9 VGNC VGNC:34981
Others SMAD9 NCBI