ACVRL1 - activin A receptor like type 1 Gene

Also Known as HHT; ALK1; HHT2; ORW2; SKR3; ALK-1; TSR-I; ACVRLK1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 94

About ACVRL1

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:51,906,944-51,923,361 (from NCBI)

This gene has 8 transcripts (splice variants), 358 orthologues, 11 paralogues and is associated with 4 phenotypes. Broad expression in placenta (RPKM 37.6), lung (RPKM 28.7) and 18 other tissues.

Summary

This gene encodes a type I cell-surface receptor for the TGF-beta Superfamily of ligands. It shares with Other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with Other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]

ACVRL1 Products (15)

mRNA Protein Name
NM_001406493.1 NP_001393422.1 serine/threonine-protein kinase receptor R3 isoform 5 precursor
NM_001406492.1 NP_001393421.1 serine/threonine-protein kinase receptor R3 isoform 4 precursor
NM_001406490.1 NP_001393419.1 serine/threonine-protein kinase receptor R3 isoform 3 precursor
XM_047429903.1 XP_047285859.1 serine/threonine-protein kinase receptor R3 isoform X3
NM_001406489.1 NP_001393418.1 serine/threonine-protein kinase receptor R3 isoform 2 precursor
NM_001406487.1 NP_001393416.1 serine/threonine-protein kinase receptor R3 isoform 1 precursor
NM_000020.3 NP_000011.2 serine/threonine-protein kinase receptor R3 isoform 1 precursor
XM_047429901.1 XP_047285857.1 serine/threonine-protein kinase receptor R3 isoform X1
NM_001406494.1 NP_001393423.1 serine/threonine-protein kinase receptor R3 isoform 6 precursor
NM_001406488.1 NP_001393417.1 serine/threonine-protein kinase receptor R3 isoform 2 precursor
NM_001406495.1 NP_001393424.1 serine/threonine-protein kinase receptor R3 isoform 7 precursor
NM_001406491.1 NP_001393420.1 serine/threonine-protein kinase receptor R3 isoform 4 precursor
XM_011539008.2 XP_011537310.1 serine/threonine-protein kinase receptor R3 isoform X2
NM_001077401.2 NP_001070869.1 serine/threonine-protein kinase receptor R3 isoform 1 precursor
XM_005269235.3 XP_005269292.1 serine/threonine-protein kinase receptor R3 isoform X1
Molecular Function GO Annotation Evidence References Source
enables ATP binding IDA
IDA: Inferred from direct assay
12065756 GOA
enables BMP receptor activity IDA
IDA: Inferred from direct assay
12065756 GOA
enables BMP receptor activity IGI
IGI: Inferred from genetic interaction
32082362 GOA
enables BMP receptor activity IMP
IMP: Inferred from mutant phenotype
26176610 GOA
enables SMAD binding IDA
IDA: Inferred from direct assay
12065756 GOA
enables activin binding IDA
IDA: Inferred from direct assay
8242742 GOA
enables activin receptor activity, type I IDA
IDA: Inferred from direct assay
8242742 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8242742 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
19592636 GOA
enables protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
12065756 GOA
enables transforming growth factor beta binding IPI
IPI: Inferred from physical interaction
8242742 GOA
enables transforming growth factor beta receptor activity IDA
IDA: Inferred from direct assay
8242742 GOA
enables transforming growth factor beta receptor activity, type I IDA
IDA: Inferred from direct assay
8242742 GOA
Biological Process GO Annotation Evidence References Source
involved in BMP signaling pathway IDA
IDA: Inferred from direct assay
12065756 GOA
involved in BMP signaling pathway IGI
IGI: Inferred from genetic interaction
32561494 GOA
involved in BMP signaling pathway IMP
IMP: Inferred from mutant phenotype
19366699 GOA
involved in angiogenesis IMP
IMP: Inferred from mutant phenotype
16752392 GOA
involved in blood circulation IMP
IMP: Inferred from mutant phenotype
16752392 GOA
involved in cellular response to BMP stimulus IMP
IMP: Inferred from mutant phenotype
19366699 GOA
involved in cellular response to transforming growth factor beta stimulus IDA
IDA: Inferred from direct assay
19494318 GOA
involved in endothelial tube morphogenesis IMP
IMP: Inferred from mutant phenotype
19592636 GOA
involved in lymphatic endothelial cell differentiation IMP
IMP: Inferred from mutant phenotype
19903896 GOA
involved in negative regulation of blood vessel endothelial cell migration IMP
IMP: Inferred from mutant phenotype
19592636 GOA
involved in negative regulation of cell adhesion IMP
IMP: Inferred from mutant phenotype
12453878 GOA
involved in negative regulation of cell growth IDA
IDA: Inferred from direct assay
17068149 GOA
involved in negative regulation of cell migration IMP
IMP: Inferred from mutant phenotype
12453878 GOA
involved in negative regulation of cell population proliferation IMP
IMP: Inferred from mutant phenotype
12453878 GOA
involved in negative regulation of endothelial cell migration IDA
IDA: Inferred from direct assay
17068149 GOA
involved in negative regulation of focal adhesion assembly IMP
IMP: Inferred from mutant phenotype
12453878 GOA
involved in positive regulation of BMP signaling pathway IDA
IDA: Inferred from direct assay
17068149 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
12393874 GOA
acts upstream of positive regulation of Notch signaling pathway IGI
IGI: Inferred from genetic interaction
32561494 GOA
involved in positive regulation of SMAD protein signal transduction IMP
IMP: Inferred from mutant phenotype
19366699 GOA
involved in positive regulation of bicellular tight junction assembly IGI
IGI: Inferred from genetic interaction
32561494 GOA
acts upstream of positive regulation of epithelial cell differentiation IGI
IGI: Inferred from genetic interaction
32561494 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
19366699 GOA
involved in regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
15702480 GOA
involved in regulation of blood pressure IMP
IMP: Inferred from mutant phenotype
14684682 GOA
involved in signal transduction IDA
IDA: Inferred from direct assay
15702480 GOA
involved in transforming growth factor beta receptor signaling pathway IDA
IDA: Inferred from direct assay
15702480 GOA
involved in wound healing, spreading of epidermal cells IMP
IMP: Inferred from mutant phenotype
12453878 GOA
Cellular Component GO Annotation Evidence References Source
located in cell surface IDA
IDA: Inferred from direct assay
8242742 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
8242742 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

ACVRL1 Protein Structure

Activin_recp

Activin_recp: Activin types I and II receptor domain (32 - 100)

TGF_beta_GS

TGF_beta_GS: Transforming growth factor beta type I GS-motif (173 - 200)

Pkinase

Pkinase: Protein kinase domain (204 - 487)

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

serine/threonine-protein kinase receptor R3

  • TGF-B superfamily receptor type I

  • activin A receptor type II-like 1

  • activin A receptor type IL

  • activin A receptor, type II-like kinase 1

ACVRL1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ACVRL1 P37023 PDXDC2P Homo sapiens Q6P474 33961781
Intra
ACVRL1 P37023 PDXDC2P Homo sapiens Q6P474 28514442
Intra
ACVRL1 P37023 Q9UK05-PRO_0000033903 Homo sapiens Q9UK05-PRO_0000033903 28564608
Intra
ACVRL1 P37023 LRG1 Homo sapiens P02750 23868260
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ACVRL1 Proteins

Cat. No. 상품명 Accession Purity
HY-P7480 ALK-1 Protein, Human (HEK293, Fc) P37023 (D22-Q118) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P72818 ALK-1 Protein, Human (HEK293, His) P37023 (D22-Q118) ≥ 90%, as determined by reducing SDS-PAGE.

ACVRL1 Antibodies

Cat. No. 상품명 신청 Reactivity
HY-P810842 ALK1 Antibody WB, IHC-P, ICC/IF Human, Mouse, Rat
HY-P82712 ALK-1 Antibody (YA2457) WB Human, Mouse, Rat

Related Diseases

Diseases Alias
Cerebral Cavernous Malformations
  • Cerebral Cavernous Malformation

  • Cavernous Malformations Of Cns And Retina

  • Cerebral Cavernous Malformation 1

  • Cavernous Angiomatous Malformations

  • Cerebral Capillary Malformations

  • CCM

  • Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

  • Familial Cavernous Angioma

  • Familial Cerebral Cavernous Malformation

  • Cerebral Cavernous Malformations 1

  • Cavernous Angioma, Familial

  • Cam

  • Cerebral Cavernous Malformations-1

  • Cavernoma

  • Cavernous Angioma

  • Central Nervous System Cavernous Hemangioma

  • Cerebral Cavernous Hemangioma

  • Familial Cavernous Hemangioma

  • Familial Cavernous Malformation

  • Familial Cerebral Cavernous Angioma

  • Intracerebral Cavernous Hemangioma

  • CCM1

  • Cavernous Hemangioma Of The Brain

  • Cerebral Cavernoma

  • Cerebral Cavernous Malformations, Type 1

  • Hemangioma, Cavernous, Central Nervous System

  • Hemangioma, Cavernous

  • Angioma, Cavernous

Juvenile Polyposis Syndrome
  • JPS

  • Juvenile Intestinal Polyposis

  • Jip

  • Pji

  • Juvenile Gastrointestinal Polyposis

  • Juvenile Polyposis

  • Polyposis, Juvenile Intestinal

  • Polyposis, Familial, Of Entire Gastrointestinal Tract

  • Polyposis Familial Of Entire Gastrointestinal Tract

  • Polyposis Juvenile Intestinal

  • Polyposis Syndrome, Juvenile

Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a
  • Multiple Pterygium Syndrome, Autosomal Dominant

  • CPSFS1A

  • Contractures, Pterygia, And Spondylocarpostarsal Fusion Syndrome 1a

  • Autosomal Dominant Disease

  • Contractures, Pterygia, And Variable Skeletal Fusions Syndrome 1a

  • Cpskf1a

  • Pterygium Syndrome, Multiple

  • Autosomal Dominant

  • Arthrogryposis, Distal, Type 8, Formerly

  • Da8, Formerly

  • Autosomal Dominant Multiple Pterygium Syndrome

  • Distal Arthrogryposis Type 8

  • Arthrogryposis, Distal, Type 8

  • Da8

  • Pterygium Syndrome, Multiple, Autosomal Dominant

  • Autosomal Dominant Disorder

Loeys-Dietz Syndrome
  • Loeys-Dietz Aortic Aneurysm Syndrome

  • Lds

  • Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies

  • Furlong Syndrome

Klippel-Trenaunay-Weber Syndrome
  • Klippel-Trenaunay Syndrome

  • KTS

  • Ktw Syndrome

  • Angioosteohypertrophy Syndrome

  • Angio-Osteohypertrophy Syndrome

  • Klippel Trenaunay Syndrome

  • Klippel-Trénaunay-Weber Syndrome

  • Haemangiectatic Hypertrophy

  • Weber-Klippel-Trenaunay

  • Congenital Dysplastic Angiopathy

  • Klippel-Trenaunay Disease

  • Weber Klippel Trenaunay

Cardiovascular Organ Benign Neoplasm
Pulmonary Hypertension, Primary, 1
  • Pulmonary Arterial Hypertension

  • Pah

  • Idiopathic Pulmonary Arterial Hypertension

  • Idiopathic Pulmonary Hypertension

  • Primary Pulmonary Hypertension

  • PPH1

  • Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht

  • Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated

  • Pph

  • Familial Primary Pulmonary Hypertension

  • Sporadic Primary Pulmonary Hypertension

  • Pht

  • Fpah

  • Familial Pulmonary Arterial Hypertension

  • Hereditary Pulmonary Arterial Hypertension

  • Heritable Pulmonary Arterial Hypertension

  • Ayerza Syndrome

  • Fpph

  • Ppht

  • Ipah

  • Primary Pulmonary Arterial Hypertension

  • Pulmonary Hypertension, Familial Primary

  • Hypertension, Pulmonary, Primary, Type 1

  • Ayerza'S Syndrome

  • Pah - [Pulmonary Arterial Hypertension]

  • Arrillaga Ayerza Syndrome

Fumarate Hydratase Deficiency
  • Fumarase Deficiency

  • Fumaric Aciduria

Castleman Disease
  • Angiofollicular Ganglionic Hyperplasia

  • Angiofollicular Lymph Hyperplasia

  • Giant Lymph Node Hyperplasia

  • Castleman'S Disease

  • Angiofollicular Lymph Node Hyperplasia

  • Lymphoid Hamartoma

  • Benign Giant Lymphoma

  • Angiolymphoid Hyperplasia

Telangiectasis
  • Telangiectasia

Peripheral Vascular Disease
  • Peripheral Arterial Disease

  • Arterial Occlusive Disease

  • Arterial Occlusive Diseases

  • Pad

  • Peripheral Vascular Diseases

  • Peripheral Occlusive Disease

  • Peripheral Arterial Diseases

  • Helicobacter Infections

Hepatopulmonary Syndrome
Embryonal Rhabdomyosarcoma
  • Rhabdomyosarcoma, Embryonal

  • Rhabdomyosarcoma Embryonal

  • Botryoid Rhabdomyosarcoma

  • Erms

  • Spindle Cell Rhabdomyosarcomas

Angiodysplasia
  • Angiodysplasia Of Colon

  • Angiodysplasia Of Stomach And Duodenum With Hemorrhage

  • Angiodysplasia Of Large Intestine

  • Telangiectasia Of Colon

  • Vascular Ectasia Of Colon

  • Av - [Angiodysplasia Malformation Of Colon]

  • Colon Angiodysplasia

  • Colonic Angiodysplasia

  • Vascular Ectasia Of Large Intestine

Connective Tissue Disease
  • Connective Tissue Diseases

  • Connective Tissue Disorder

  • Abnormality Of Connective Tissue

  • Disorder Of Connective Tissue

  • Connective Tissue Disorders

Vascular Disease
  • Vascular Diseases

  • Aneurysm

  • Spinal Cord Ischemia

  • Spinal Cord Vascular Diseases

  • Vascular Tissue Disease

  • Vascular Anomaly

Pulmonary Hypertension
  • Primary Pulmonary Hypertension

  • Hypertension Pulmonary

  • Hypertension, Pulmonary

  • Idiopathic Pulmonary Hypertension

  • Idiopathic Pulmonary Arterial Hypertension

  • Pulmonary Htn - [Hypertension]

Telangiectasia, Hereditary Hemorrhagic, Type 1
  • Orw Disease

  • HHT1

  • Hht

  • Telangiectasia, Hereditary Hemorrhagic, Of Rendu, Osler, And Weber

  • Osler-Rendu-Weber Disease

  • Telangiectasia, Hereditary Hemorrhagic, 1

  • Hereditary Hemorrhagic Telangiectasia Of Rendu, Osler, And Weber

  • Orw1

  • Osler-Rendu-Weber Syndrome

  • Osler-Rendu-Weber Syndrome 1

  • Telangiectasia Hemorrhagic, Hereditary, Type 1

  • Hereditary Hemorrhagic Telangiectasia

Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
  • Juvenile Polyposis-Hereditary Hemorrhagic Telangiectasia Syndrome

  • JPHT

  • Jp/Hht Syndrome

  • Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia

  • Jps/Hht

  • Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli

  • Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation

  • Jp-Hht

  • JP/HHT

  • Polyposis, Juvenile/Hereditary Hemorrhagic Telangiectasia Syndrome

Lymphoproliferative Syndrome, X-Linked, 1
  • Lymphomatoid Papulosis

  • Duncan Disease

  • Purtilo Syndrome

  • X-Linked Lymphoproliferative Syndrome

  • Xlp

  • XLP1

  • Lyp

  • X-Linked Lymphoproliferative Disease

  • Lymphoproliferative Disease, X-Linked

  • Xlpd

  • X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency

  • Ebv Infection, Severe, Susceptibility To

  • Ebvs

  • Immunodeficiency 5

  • Imd5

  • X-Linked Lymphoproliferative Syndrome 1

  • Epstein-Barr Virus Infection, Familial Fatal

  • Ebv Infection, Severe

  • Infectious Mononucleosis, Severe

  • Infectious Mononucleosis, Severe, Susceptibility To

  • Immunodeficiency, X-Linked Progressive Combined Variable

  • Epstein Barr Virus Infection, Familial Fatal

  • X-Linked Progressive Combined Variable Immunodeficiency 5

  • Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males

  • Familial Fatal Epstein-Barr Infection

  • Severe Susceptibility To Ebv Infection

  • Severe Susceptibility To Infectious Mononucleosis

  • Sap Deficiency

  • Sh2d1a/Slam-Associated Protein Deficiency

  • X-Linked Lymphoproliferative Syndrome Type 1

  • X-Linked Progressive Combined Variable Immunodeficiency

  • Lymphoproliferative Syndrome, X-Linked

  • Sap

  • X-Linked Lymphoproliferative Disorder

Brachydactyly, Type A2
  • Brachydactyly Type A2

  • BDA2

  • Mohr-Wriedt Type Brachydactyly

  • Brachymesophalangy Ii

  • Brachymesophalangy Type 2

  • Brachymesophalangy 2

  • Brachydactyly, Mohr-Wriedt Type

  • Brachydactyly A2

Active Peptic Ulcer Disease
  • Gi Bleeding

  • Active Peptic Ulcer

  • Gastrointestinal Hemorrhage

Aortic Aneurysm, Familial Thoracic 1
  • Thoracic Aortic Aneurysm

  • Annuloaortic Ectasia

  • Familial Thoracic Aortic Aneurysm And Aortic Dissection

  • Familial Aortic Dissection

  • Familial Taad

  • Congenital Aneurysm Of Ascending Aorta

  • Familial Aortic Aneurysm

  • Familial Thoracic Aortic Aneurysm

  • Familial Thoracic Aortic Aneurysm And Dissection

  • Aortic Aneurysm, Thoracic

  • AAT1

  • Faa1

  • Aortic Dissection, Familial

  • Aortic Aneurysm, Familial Thoracic

  • Aneurysm, Thoracic Aortic

  • Faa

  • Ftaad

  • Taa

  • Taad

  • Cystic Medial Necrosis Of Aorta

  • Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

  • Aortic Aneurysm Thoracic

  • Familial Aortic Aneurysms

  • Aneurysm, Aortic, Thoracic, Familial, Type 1

  • Aneurysm Of Thoracic Aorta

  • Intrathoracic Aneurysm

  • Thoracic Aorta Aneurysm

  • Thoracic Aortic Aneurysm Without Rupture

  • Thoracic Aneurysm

  • Thorax Arterial Aneurysm

  • Thoracic Artery Aneurysm

  • Thoracic Arterial Aneurysm

  • Thorax Aneurysm

  • Thorax Aortic Aneurysm

  • Dissection Of Thoracic Aorta

Hepatic Vascular Disease
  • Vascular Disorder Of Liver

Arteriovenous Malformation
  • Arteriovenous Malformations

  • Arteriovenous Hemangioma

  • Cirsoid Aneurysm

  • Racemose Aneurysm

  • Racemose Angioma

  • Racemose Hemangioma

  • Congenital Arteriovenous Malformation

Infiltrating Angiolipoma
  • Angiolipoma, Infiltrating

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

Weber Syndrome
  • Midbrain Stroke Syndromes

Heritable Pulmonary Arterial Hypertension
  • Fpah

  • Familial Pulmonary Arterial Hypertension

  • Hpah

  • Hereditary Pulmonary Arterial Hypertension

  • Familial Primary Pulmonary Hypertension

Telangiectasia, Hereditary Hemorrhagic, Type 2
  • HHT2

  • Hereditary Hemorrhagic Telangiectasia Type 2

  • Orw2

  • Osler Weber Rendu Syndrome Type 2

  • Telangiectasia Hereditary Hemorrhagic Type 2

  • Telangiectasia, Hereditary Hemorrhagic, 2

  • Telangiectasia, Hemorrhagic, Hereditary, Type 2

  • Osler-Rendu-Weber Syndrome 2

Chronic Pulmonary Heart Disease
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

Fumarase Deficiency
  • Fumaric Aciduria

  • FMRD

  • Fumarate Hydratase Deficiency

  • Deficiency, Fumarase

Sturge-Weber Syndrome
  • SWS

  • Encephalotrigeminal Angiomatosis

  • Encephalofacial Angiomatosis

  • Sturge-Weber-Dimitri Syndrome

  • Sturge-Weber-Krabbe Syndrome

  • Fourth Phacomatosis

  • Leptomeningeal Angiomatosis

  • Meningeal Capillary Angiomatosis

  • Sturge-Weber-Krabbe Angiomatosis

  • Sturge-Weber Syndrome, Somatic, Mosaic

  • Sws Type I - Facial And Leptomeningeal Angiomas

  • Sws Type Ii - Facial Angioma Alone, No Cns Involvement

  • Sws Type Iii - Isolated Leptomeningeal Angiomas

  • Sturge Weber Syndrome

  • Angiomatosis Aculoorbital-Thalamic Syndrome

  • Encephalofacial Hemangiomatosis

  • Encephalofacial Hemangiomatosis Syndrome

  • Meningo-Oculo-Facial Angiomatosis

  • Meningofacial Angiomatosis-Cerebral Calcification Syndrome

  • Neuroretinoangiomatosis

  • Phakomatosis, Sturge-Weber

  • Weber-Sturge-Dimitri Syndrome

Anaplastic Large Cell Lymphoma
  • Alcl

  • Cd30 Positive Anaplastic Large Cell Lymphoma

  • Ki-1 Positive Anaplastic Large Cell Lymphoma

  • Primary Systemic Alcl

  • Sacl

  • Ki-1+ Anaplastic Large Cell Lymphoma

Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
  • Small Patella Syndrome

  • Ischiopatellar Dysplasia

  • Coxopodopatellar Syndrome

  • Scott-Taor Syndrome

  • Sps

  • Ischiocoxopodopatellar Syndrome

  • Patella Aplasia, Coxa Vara, And Tarsal Synostosis

  • ICPPS

  • Congenital Coxa Vara, Patella Aplasia And Tarsal Synostosis

  • Coxo-Podo-Patellar Syndrome

  • Patella Aplasia, Coxa Vara, Tarsal Synostosis

  • Coxopodipatellar Syndrome

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

Venous Malformations, Multiple Cutaneous And Mucosal
  • VMCM

  • Multiple Cutaneous And Mucosal Venous Malformations

  • Mucocutaneous Venous Malformations

  • Vmcm1

  • Cutaneous And Mucosal Venous Malformation

  • Dominantly Inherited Venous Malformations

Hemangioma Of Lung
  • Pulmonary Hemangioma

Thrombocytopenia
  • Low Platelet Count

  • Low Platelets

  • Decreased Platelets

  • Platelet Dysfunction Nos

Mixed Connective Tissue Disease
  • Sharp Syndrome

  • Mctd

  • Connective Tissue Disease Overlap Syndrome

  • Mixed Collagen Vascular Disease

  • Mctd - [Mixed Connective Tissue Disease]

Splenic Artery Aneurysm
  • Aneurysm Of Splenic Artery

Arteriovenous Malformations Of The Brain
  • Cerebral Arteriovenous Malformation

  • Intracranial Arteriovenous Malformation

  • Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To

  • Intracranial Arteriovenous Malformations

  • Bavm

  • Cerebral Arteriovenous Malformations

  • Intracranial Hemorrhage In Brain Cerebrovascular Malformations

  • Arteriovenous Malformation Of The Brain, Somatic

  • Intracranial Avm

  • Arteriovenous Malformations Cerebral

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
Macaca mulatta ACVRL1 VGNC VGNC:69451
Canis familiaris ACVRL1 VGNC VGNC:37566
Felis catus ACVRL1 VGNC VGNC:59567
Mus musculus ACVRL1 MGD MGI:1338946
Rattus norvegicus ACVRL1 RGD RGD:2029
Bos taurus ACVRL1 VGNC VGNC:25597
Others ACVRL1 NCBI