F9 - coagulation factor IX Gene

Also Known as FIX; P19; PTC; HEMB; THPH8; F9 p22

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2158

About F9

Cytogenetic location: Xq27.1 Genomic coordinates (GRCh38): X:139,530,739-139,563,459 (from NCBI)

This gene has 4 transcripts (splice variants), 216 orthologues, 16 paralogues and is associated with 7 phenotypes. Restricted expression toward liver (RPKM 181.1).

Summary

This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane Phospholipids, and Factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Sep 2015]

F9 Products (2)

mRNA Protein Name
NM_000133.4 NP_000124.1 coagulation factor IX isoform 1 preproprotein
NM_001313913.2 NP_001300842.1 coagulation factor IX isoform 2 precursor
Molecular Function GO Annotation Evidence References Source
enables calcium ion binding EXP
EXP: Inferred from Experiment
14722079 GOA
enables calcium ion binding IDA
IDA: Inferred from direct assay
9169594 GOA
enables endopeptidase activity IDA
IDA: Inferred from direct assay
2592373 GOA
enables metal ion binding EXP
EXP: Inferred from Experiment
14722079 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
26157780 GOA
Biological Process GO Annotation Evidence References Source
involved in blood coagulation IDA
IDA: Inferred from direct assay
2472424 GOA
involved in blood coagulation IMP
IMP: Inferred from mutant phenotype
2592373 GOA
involved in proteolysis IDA
IDA: Inferred from direct assay
20121197 GOA
involved in zymogen activation IDA
IDA: Inferred from direct assay
2592373 GOA
Cellular Component GO Annotation Evidence References Source
located in extracellular space IDA
IDA: Inferred from direct assay
2592373 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

F9 Protein Structure

Gla

Gla: Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain (52 - 93)

EGF

EGF: EGF-like domain (97 - 127)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (134 - 170)

Trypsin

Trypsin: Trypsin (227 - 454)

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

coagulation factor IX

  • Christmas factor

Recombinant F9 Proteins

Cat. No. Product Name Accession Purity
HY-P70231 Coagulation factor IX/F9 Protein, Human (HEK293, His) P00740-1 (T29-T461) ≥ 95%, as determined by reducing SDS-PAGE.

F9 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810760 Factor IX Antibody (YA10003) WB, ICC/IF Human, Mouse
HY-P81608 Factor IX Antibody (YA1353) WB Human

Related Diseases

Diseases Alias
Hemophilia B
  • Christmas Disease

  • Factor Ix Deficiency

  • F9 Deficiency

  • HEMB

  • Plasma Thromboplastin Component Deficiency

  • Congenital Factor Ix Deficiency

  • Mild Hemophilia B

  • Severe Hemophilia B

  • Congenital Factor Ix Disorder

  • Deficiency, Functional Factor Ix

  • Hem B

  • Mild Congenital F9 Deficiency

  • Mild Congenital Factor Ix Deficiency

  • Moderate Hemophilia B

  • Moderate Congenital F9 Deficiency

  • Moderate Congenital Factor Ix Deficiency

  • Severe Congenital F9 Deficiency

  • Severe Congenital Factor Ix Deficiency

  • Bleeding Disorder In Hemophilia B Carriers

  • Congenital F9 Deficiency

  • Recessive X-Linked Hemophilia B

Thrombophilia, X-Linked, Due To Factor Ix Defect
  • THPH8

  • Deep Venous Thrombosis, Protection Against

  • X-Linked Thrombophilia Due To Factor Ix Defect

  • Thrombophilia, X-Linked, Due To Factor 9 Defect

  • Thrombophilia 8, X-Linked, Due To Factor Ix Defect

Warfarin Sensitivity, X-Linked
  • Coumarin Sensitivity, X-Linked

  • X-Linked Warfarin Sensitivity

  • Warfarin Sensitivity

  • WARFS

Hemophilia B Leyden
  • F9 Deficiency, Leyden Type

  • Factor Ix Deficiency, Leyden Type

Hemophilia A
  • Factor Viii Deficiency

  • Haemophilia A

  • Mild Hemophilia A

  • HEMA

  • Hemophilia, Classic

  • Classic Hemophilia

  • Factor 8 Deficiency

  • Severe Hemophilia A

  • Classical Hemophilia

  • Hem A

  • Hemophilia A, Congenital

  • Mild Congenital F8 Deficiency

  • Mild Congenital Factor Viii Deficiency

  • Severe Congenital F8 Deficiency

  • Severe Congenital Factor Viii Deficiency

  • Moderate Hemophilia A

  • Moderate Congenital F8 Deficiency

  • Moderate Congenital Factor Viii Deficiency

  • Bleeding Disorder In Hemophilia A Carriers

  • Congenital F8 Deficiency

  • Congenital Fviii Deficiency

  • Congenital Factor Viii Deficiency

  • Mild Hereditary Factor Viii Deficiency Disease

  • Severe Hereditary Factor Viii Deficiency Disease

  • Ahg - [Antihaemophilic Globulin] Deficiency

  • Ahg - [Antihaemophilic Globulin] Deficiency Disease

  • Congenital Factor Viii Disorder

  • Sex-Linked Factor Viii Deficiency

  • Antihaemophilic Globulin Deficiency

  • Classic Haemophilia

  • Familial Haemophilia

  • Haemophilia

  • Hereditary Haemophilia

  • Subhaemophilia

  • Haemophilia Nos

Factor Viii Deficiency
  • Autosomal Hemophilia A

  • Hemophilia A

  • Autosomal Factor Viii Deficiency

  • Classic Hemophilia A

  • Congenital Factor Viii Disorder

  • Subhemophilia

  • Factor 8 Deficiency, Congenital

  • Factor Viii

Hemophilia
  • Haemophilia

  • Hemophilia, Familial

  • Hemophilia, Hereditary

  • Hemophilia A

  • Hemophilia, Nos

Thrombophilia
  • Hypercoagulability State

Hemarthrosis
  • Haemarthrosis Of Shoulder Joint

  • Haemarthrosis Of The Ankle And Foot

  • Haemarthrosis Of The Pelvic Region And Thigh

  • Hemarthrosis Involving Ankle And Foot

  • Hemarthrosis Involving Forearm

  • Hemarthrosis Involving Hand

  • Hemarthrosis Involving Lower Leg

  • Hemarthrosis Involving Pelvic Region And Thigh

  • Hemarthrosis Involving Shoulder Region

  • Hemarthrosis Involving Upper Arm

  • Hemarthrosis Of Ankle And/Or Foot

  • Hemarthrosis Of Forearm

  • Hemarthrosis Of Hand

  • Hemarthrosis Of Lower Leg

  • Hemarthrosis Of Shoulder

  • Hemarthrosis Of Shoulder Region

  • Hemarthrosis Of The Ankle And Foot

  • Hemarthrosis Of The Ankle And/Or Foot

  • Hemarthrosis Of The Forearm

  • Hemarthrosis Of The Hand

  • Hemarthrosis Of The Lower Leg

  • Hemarthrosis Of The Pelvic Region And Thigh

  • Hemarthrosis Of The Shoulder Region

  • Hemarthrosis Of The Upper Arm

  • Hemarthrosis Of Upper Arm

Factor Xi Deficiency
  • Plasma Thromboplastin Antecedent Deficiency

  • Rosenthal Syndrome

  • Pta Deficiency

  • Hemophilia C

  • Rosenthal Factor Deficiency

  • F11 Deficiency

  • Congenital Factor Xi Deficiency

  • Hereditary Factor Xi Deficiency Disease

  • Haemophilia C

  • Factor Xi Deficiency, Autosomal Dominant

  • Rosenthal'S Disease

  • Factor 11 Deficiency

  • Factor Xi

  • Factor Xi Deficiency, Autosomal Recessive

  • Factor Xi Deficiency, Congenital

  • FA11D

  • Thromboplastin Antecedent Deficiency

  • Pta - [Plasma Thromboplastin Antecedent] Deficiency

  • Congenital Factor Xi Deficiency Disease

  • Rosenthal Disease

Factor Vii Deficiency
  • Hypoproconvertinemia

  • F7 Deficiency

  • Congenital Proconvertin Deficiency

  • Congenital Factor Vii Deficiency

  • Factor 7 Deficiency

  • Deficiency, Stable

  • Proconvertin Deficiency

  • Prothrombin Conversion Accelerator Deficiency

  • Serum Prothrombin Conversion Accelerator Deficiency

  • Proconvertin Deficiency, Congenital

  • FA7D

  • Stable Disease

  • Deficiency, Factor Vii

Factor X Deficiency
  • Stuart-Prower Factor Deficiency

  • F10 Deficiency

  • Congenital Stuart Factor Deficiency

  • Factor X Deficiency, Congenital

  • Congenital Factor X Deficiency

  • Disease, Stuart-Prower

  • Stuart Factor Deficiency, Congenital

  • FA10D

  • Factor 10 Deficiency

  • Deficiency, Factor X

  • Hereditary Factor X Deficiency Disease

  • Deficiency Of Factor X

  • Stuart Deficiency Disease

  • Stuart Prower Deficiency

  • Stuart-Prower Disease

Thrombosis
  • Thrombosis Of Blood Vessel

Hemorrhagic Disease
  • Hemorrhagic Disorders

  • Hemorrhagic Diathesis

  • Hemorrhagic Diseases

  • Bleeding Tendency

  • Acquired Coagulation Factor Inhibitor Disorder

  • Acquired Inhibitor Of Coagulation

  • Antithrombinaemia

  • Antithromboplastinogenaemia

  • Circulating Anticoagulant Disorder

  • Haemorrhagic Disorder Due To Antithrombinaemia

  • Haemorrhagic Disorder Due To Excess Administered Heparin

  • Antithromboplastinaemia

  • Haemorrhagic Disorder Due To Hyperheparinemia

Protein C Deficiency
  • Hereditary Thrombophilia Due To Protein C Deficiency

  • Proc Deficiency

  • Congenital Thrombotic Disease, Due To Protein C Deficiency

Cardiac Tamponade
  • Pericardial Tamponade

  • Rose'S Tamponade

Von Willebrand'S Disease
  • Von Willebrand Disease

  • Von Willebrand Disorder

  • Vascular Pseudohemophilia

  • Hereditary Von Willebrand Disease

  • Vwd

  • Vascular Hemophilia

  • Von Willebrand'S-Jurgens' Disease

  • Von Willebrand-Jrgens Disease

  • Von Willebrand Factor Deficiency

  • Von Willebrand Factor, Deficiency

  • Angiohemophilia

  • Von Willebrand'S Factor Deficiency

  • Von Willebrand Diseases

  • Factor Viii Deficiency With Vascular Defect

  • Vascular Haemophilia

  • Willebrand Jurgen Thrombopathy

  • Pseudohaemophilia

  • Minot-Von Willebrand-Jurgen Disease

  • Angiohaemophilia

  • Angiohaemophilia A

  • Angiohaemophilia B

Factor V Deficiency
  • Parahemophilia

  • Labile Factor Deficiency

  • Proaccelerin Deficiency

  • Owren Disease

  • Owren Parahemophilia

  • Quebec Platelet Disorder

  • Deficiency, Labile

  • Hereditary Hypoproaccelerinaemia

  • Owren'S Disease

  • Congenital Factor V Deficiency

  • FA5D

  • Factor 5 Deficiency

  • Deficiency, Factor V

Arthropathy
  • Ankylosis Of Ankle And Foot Joint

  • Ankylosis Of Forearm Joint

  • Ankylosis Of Hand Joint

  • Ankylosis Of Joint Of Ankle And/Or Foot

  • Ankylosis Of Joint Of Forearm

  • Ankylosis Of Joint Of Hand

  • Ankylosis Of Joint Of Lower Leg

  • Ankylosis Of Joint Of Multiple Sites

  • Ankylosis Of Joint Of Pelvic Region And Thigh

  • Ankylosis Of Joint Of Shoulder Region

  • Ankylosis Of Joint Of Upper Arm

  • Ankylosis Of Lower Leg Joint

  • Ankylosis Of Multiple Joints

  • Ankylosis Of Upper Arm Joint

  • Infectious Arthropathy

  • Joint Ankylosis Of The Ankle And Foot

  • Joint Ankylosis Of The Ankle And/Or Foot

  • Joint Ankylosis Of The Forearm

  • Joint Ankylosis Of The Hand

  • Joint Ankylosis Of The Lower Leg

  • Joint Ankylosis Of The Pelvic Region And Thigh

  • Joint Ankylosis Of The Shoulder Region

  • Joint Ankylosis Of The Upper Arm

  • Joint Diseases

  • Joint Disease

  • Arthropathy Associated With Infection

Disseminated Intravascular Coagulation
  • Defibrination Syndrome

  • Dic

  • Diffuse Or Disseminated Intravascular Coagulation

  • Fibrinolytic Purpura

  • Consumption Coagulopathy

  • Diffuse Intravascular Coagulation

  • Dic - [Disseminated Intravascular Coagulation]

  • Disseminated Intravascular Coagulopathy

  • Fibrinolysis Nos

  • Thrombolytic Purpura

Factor Xii Deficiency
  • Hageman Factor Deficiency

  • Haf Deficiency

  • Factor Xii Deficiency Disease

  • F12 Deficiency

  • Deficiency, Hageman

  • Coagulation Factor 12 Deficiency

  • Factor 12 Deficiency

  • Congenital Factor Xii Deficiency

  • Congenital Hageman Factor Deficiency

  • FA12D

  • Factor Xii

  • Deficiency, Factor Xii

Sneddon Syndrome
  • Livedo Reticularis And Cerebrovascular Accidents

  • SNDNS

  • Ehrmann-Sneddon Syndrome

  • Livedo Racemosa-Cerebrovascular Accident Syndrome

  • Livedo Reticularis-Cerebrovascular Accident Syndrome

  • Sneddon'S Syndrome

  • Idiopathic Livedo Reticularis With Systemic Involvement

  • Cerebro-Vascular Lesions And Livedo Reticularis

  • Livedo Racemosa And Cerebrovascular Accidents

Atrial Fibrillation
  • A-Fib

  • Fibrillation, Atrial

  • Af - [Atrial Fibrillation]

  • Rapid Atrial Fibrillation

  • A Fib - [Atrial Fibrillation]

Immunoglobulin Light Chain Amyloidosis
  • Al Amyloidosis

  • Primary Amyloidosis

  • Primary Systemic Amyloidosis

  • Light Chain Amyloidosis

  • Amyloidosis Al

  • Amyloidosis Primary Systemic

  • Primary Al Amyloidosis

  • Primary Systemic Al Amyloidosis

  • Systemic Al Amyloidsis

  • Systemic Al Amyloidosis

  • Light-Chain Amyloidosis

  • Alys Amyloidosis

  • Familial Amyloid Nephropathy Due To Lysozyme Variant

  • Familial Renal Amyloidosis Due To Lysozyme Variant

  • Hereditary Amyloid Nephropathy Due To Lysozyme Variant

  • Hereditary Renal Amyloidosis Due To Lysozyme Variant

  • Lysozyme Amyloidosis

  • Amyloidosis Primary

  • Immunoglobulin Deposition Disease

  • Immunoglobulinic Amyloidosis

  • Amyloid Al

Pulmonary Embolism
  • Pulmonary Artery Embolism

  • Pulmonary Embolus

  • Pulmonary Emboli

Thrombophilia Due To Activated Protein C Resistance
  • Activated Protein C Resistance

  • Apc Resistance

  • THPH2

  • Thrombophilia Due To Deficiency Of Activated Protein C Cofactor

  • Proc Cofactor Deficiency

  • Pccf Deficiency

  • Thrombophilia V

  • Thrombophilia, Susceptibility To, Due To Factor V Leiden

  • Thrombophilia Due To Factor V Leiden

  • Thrombophilia 2 Due To Activated Protein C Resistance

  • Thrombophilia, Susceptibility To, Due To Activated Protein C Resistance

Glanzmann Thrombasthenia 1
  • Glanzmann Thrombasthenia

  • Thrombasthenia Of Glanzmann And Naegeli

  • Glanzmann'S Thrombasthenia

  • Bdplt2

  • Platelet Glycoprotein Iib-Iiia Deficiency

  • Deficiency Of Platelet Fibrinogen Receptor

  • GT1

  • Gt

  • Platelet Fibrinogen Receptor Deficiency

  • Glycoprotein Complex Iib-Iiia Deficiency

  • Deficiency Of Glycoprotein Complex Iib-Iiia

  • Glycoprotein Iib/Iiia Defect

  • Glanzmann Thrombasthenia, Type A

  • Thrombasthenia

  • Bleeding Disorder, Platelet-Type, 2

  • Gp Iib-Iiia Complex Deficiency

  • Deficiency Of Gp Iib-Iiia Complex

  • Platelet-Type Bleeding Disorder 2

  • Thrombocytasthenia

  • Deficiency Of Gp 2b 3a Complex

  • Diacyclothrombopathia 2b 3a

  • Glanzmann Thrombasthenia Type A

  • Platelet Fibrinogen Receptor, Deficiency Of

  • Platelet Glycoprotein 2b 3a Deficiency

  • Glanzmann Disease

  • Glanzmann-Naegeli Disorder

  • Hereditary Hemorrhagic Thrombasthenia

  • Hereditary Thrombasthenia

  • Bleeding Disorder Platelet-Type 2

Color Blindness
  • Color Vision Defect

  • Blindness Color

  • Colour Blindness

  • Colour Vision Deficiency

  • Color Vision Deficiency

  • Color Vision Defects

  • Defective Color Vision

  • Vision Defect, Color

  • Color-Vision Disease

  • Dyschromatopsia

Congenital Disorder Of Glycosylation, Type Ia
  • CDG1A

  • Cdg Ia

  • Phosphomannomutase 2 Deficiency

  • Jaeken Syndrome

  • Pmm2-Congenital Disorder Of Glycosylation

  • Congenital Disorder Of Glycosylation Type Ia

  • Cdgia

  • Congenital Disorder Of Glycosylation Ia

  • Congenital Disorder Of Glycosylation 1a

  • Carbohydrate-Deficient Glycoprotein Syndrome Type Ia

  • Cdgs1a

  • Pmm2-Cdg

  • Cdg-Ia

  • Congenital Disorder Of Glycosylation Type 1a

  • Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly

  • Pmm Deficiency

  • Cdg Syndrome Type Ia

  • Carbohydrate Deficient Glycoprotein Syndrome Type Ia

  • Cdg Syndrome Type 1a

  • Jaeken'S Syndrome

  • Pmm2 Deficiency

  • Glycosylation, Congenital Disorder Of, Type Ia

Retinal Artery Occlusion
  • Retina Artery Narrowing

  • Retinal Artery Spasm

  • Spasm Of Ophthalmic Artery

  • Retinal Spasm

  • Vasospasm Of Retina

Intracranial Hypertension
  • Raised Intracranial Pressure

Brachydactyly, Type D
  • Brachydactyly Type D

  • BDD

  • Stub Thumb

  • Brachydactyly D

Blood Coagulation Disease
  • Blood Coagulation Disorders

  • Coagulation Protein Disease

  • Inherited Blood Coagulation Disease

  • Postpartum Coagulation Defect

  • Postpartum Coagulation Defect With Delivery

  • Coagulation Protein Disorders

  • Puerperal Coagulopathy

Dilated Cardiomyopathy 1t
  • Cmd1t

  • Cardiomyopathy, Dilated, 1t

Thrombophilia Due To Thrombin Defect
  • Venous Thromboembolism

  • Venous Thrombosis

  • Thrombophilia Due To Factor 2 Defect

  • Thromboembolism

  • THPH1

  • Thromboembolism, Susceptibility To

  • Venous Thromboembolism, Susceptibility To

  • Venous Thrombosis, Protection Against

  • Prothrombin-Related Thrombophilia

  • Hyperprothrombinemia

  • Venous Thrombosis, Susceptibility To

  • Thrombophilia 1 Due To Thrombin Defect

  • F2-Related Thrombophilia

  • Factor Ii-Related Thrombophilia

  • Prothrombin 20210g>A Thrombophilia

  • Prothrombin G20210a Thrombophilia

  • Prothrombin Thrombophilia

Coumarin Resistance
  • Warfarin Resistance

  • Warfarin Sensitivity

  • Coumadin Sensitivity

  • Warfarin Response

  • Poor Metabolism Of Coumarin

  • Coumarin, Poor Metabolism Of

  • CMRES

Bernard-Soulier Syndrome
  • Giant Platelet Syndrome

  • BSS

  • Von Willebrand Factor Receptor Deficiency

  • Bdplt1

  • Platelet Glycoprotein Ib Deficiency

  • Bernard-Soulier Syndrome, Type A1

  • Bernard-Soulier Syndrome, Type B

  • Bernard Soulier Syndrome

  • Deficiency Of Platelet Glycoprotein 1b

  • Hemorrhagiparous Thrombocytic Dystrophy

  • Bernard-Soulier Syndrome Type C

  • Bleeding Disorder, Platelet-Type, 1

  • Glycoprotein Ib, Platelet, Deficiency Of

  • Giant Platelet Disorder, Isolated

  • Giant Platelet Disease

  • Macrothrombocytopenia, Familial Bernard-Soulier Type

  • Bernard-Soulier Syndrome, Type C

  • Bernard - Soulier Thrombopathy

  • Hemorrhagic Dystrophic Thrombocytopenia

  • Thrombopathy, Bernard-Soulier

  • Platelet Glycoprotein 1b, Deficiency Of

  • Hemorrhagioparous Thrombocytic Dystrophy

  • Bernard-Soulier Syndrome Type A1

  • Bernard-Soulier Syndrome Type B

  • Bleeding Disorder Platelet-Type 1

  • Gpd

  • Macrothrombocytopenia, Familial, Bernard-Soulier Type

Nephrotic Syndrome
  • Finnish Congenital Nephrotic Syndrome

  • Ns - [Nephrotic Syndrome]

  • Nephrosis Syndrome

  • Nephrosis Nos

  • Glomerular Lesion Nephrosis

Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
  • Ornithine Carbamoyltransferase Deficiency

  • Ornithine Transcarbamylase Deficiency

  • Otc Deficiency

  • Ornithine Carbamoyltransferase Deficiency Disease

  • OTCD

  • Deficiency Of Citrulline Phosphorylase

  • Oct Deficiency

  • Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency

  • Deficiency, Ornithine Carbamoyltransferase

Vitamin K Deficiency Bleeding
  • Vitamin K Deficiency

  • Deficiency Of Vitamin K

  • Vitamin K

  • Vitamin K Deficiency Hemorrhagic Disease

Prothrombin Deficiency
  • Factor Ii Deficiency

  • Hypoprothrombinemia

  • Dysprothrombinemia

  • Deficiency, Prothrombin

  • Inherited Factor Ii Deficiency

  • Hereditary Factor Ii Deficiency Disease

Acquired Immunodeficiency Syndrome
  • Acquired Immune Deficiency Syndrome

  • AIDS

  • Acquired Immune Deficiency

  • Acquired Immunodeficiency

  • Acquired Immunodeficiency Due To Protein Loss

Factor Xiii Deficiency
  • Hereditary Factor Xiii Deficiency Disease

  • Deficiency, Laki-Lorand Factor

  • Congenital Factor Xiii Deficiency

  • Fibrin Stabilizing Factor Deficiency

  • Deficiency, Factor Xiii

  • Factor Xiii Deficiency Disease

  • Deficiency Of Factor Xiii

  • Fibrin-Stabilizing Factor Deficiency

  • Factor Xiii Deficiency, Congenital

Thrombocytopenia
  • Low Platelet Count

  • Low Platelets

  • Decreased Platelets

  • Platelet Dysfunction Nos

Compartment Syndrome
  • Compartment Syndromes

  • Compartmental Syndrome

Tyrosinemia, Type I
  • Tyrosinemia Type I

  • Hepatorenal Tyrosinemia

  • Fumarylacetoacetase Deficiency

  • Fah Deficiency

  • TYRSN1

  • Fumarylacetoacetate Hydrolase Deficiency

  • Tyrosinemia Type 1

  • Tyrosinemia 1

  • Fumarylacetoacetase

Ulcer Of Lower Limbs
  • Ulcer Of Ankle

  • Ulcer Of Calf

  • Ulcer Of Heel And Midfoot

  • Ulcer Of Thigh

  • Ulcer Of Lower Limb

Gaucher'S Disease
  • Gaucher Disease

  • Kerasin Thesaurismosis

  • Glucocerebrosidase Deficiency

  • Glucosylceramidase Deficiency

  • Cerebroside Lipidosis Syndrome

  • Acid Beta-Glucosidase Deficiency

  • Glucosylceramide Beta-Glucosidase Deficiency

  • Acute Cerebral Gaucher Disease

  • Gaucher Splenomegaly

  • Glucocerebrosidosis

  • Glucosyl Cerebroside Lipidosis

  • Kerasin Lipoidosis

  • Lipoid Histiocytosis

  • Glocucerebrosidase Deficiency

  • Sphingolipidosis 1

  • Gaucher Syndrome

  • Gauchers Disease

  • Gd

  • Glucosylceramide Lipidosis

  • Kerasin Histiocytosis

  • Gaucher Disease, Type 1

  • Gaucher Disease, Type 2

Mucopolysaccharidosis, Type Ii
  • Hunter Syndrome

  • Iduronate 2-Sulfatase Deficiency

  • Mucopolysaccharidosis Ii

  • Mps Ii

  • Mucopolysaccharidosis Type Ii

  • MPS2

  • Sulfoiduronate Sulfatase Deficiency

  • Mucopolysaccharidosis, Mps-Ii

  • Ids Deficiency

  • Sids Deficiency

  • I2s Deficiency

  • Mucopolysaccharidosis Type 2

  • Mucopolysaccharidosis Type 2, Severe Form

  • Deficiency Of Iduronate-2-Sulphatase

  • Hunter'S Syndrome

  • Mps Ii - Hunter Syndrome

  • Iduronate-2-Sulfatase Deficiency

  • Attenuated Mps

  • Mps 2

  • Severe Mps Ii

  • Mpsii

  • Mucopolysaccharidosis Type 2, Attenuated Form

  • Hunter Syndrome Type B

  • Iduronate 2-Sulfatase Deficiency Type B

  • Mps2b

  • Mpsiib

  • Mucopolysaccharidosis Type 2b

  • Mucopolysaccharidosis Type Ii, Attenuated Form

  • Mucopolysaccharidosis Type Iib

  • Hunter Syndrome Type A

  • Iduronate 2-Sulfatase Deficiency Type A

  • Mps2a

  • Mpsiia

  • Mucopolysaccharidosis Type 2a

  • Mucopolysaccharidosis Type Ii, Severe Form

  • Mucopolysaccharidosis Type Iia

  • Mucopolysaccharidosis 2

  • Hunters Syndrome

  • Iduronate 2-Sulphatase Deficiency

  • Iduronate Sulfatase Deficiency

  • Iduronate Sulphatase Deficiency

  • Sulfo-Iduronate Sulfatase Deficiency

  • Sulfoiduronidate Sulfatase Deficiency

  • Sulpho-Iduronate Sulphatase Deficiency

  • Sulphoiduronidate Sulphatase Deficiency

  • Mps2 - [Mucopolysaccharidosis 2]

Bilirubin Metabolic Disorder
  • Hyperbilirubinemia

  • Hereditary Hyperbilirubinemia

  • Hyperbilirubinemia, Hereditary

  • Hyperbilirubinaemia

Adenosine Deaminase Deficiency
  • Ada Deficiency

  • Ada-Scid

  • Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

  • Adenosine Deaminase Deficient Severe Combined Immunodeficiency

  • Scid Due To Ada Deficiency

  • Severe Combined Immunodeficiency Due To Ada Deficiency

  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency

  • Ada

  • Scid Due To Adenosine Deaminase Deficiency

Myocardial Infarction
  • Heart Attack

  • Myocardial Infarction, Susceptibility To

  • Myocardial Infarction 1

  • Myocardial Infarction, Protection Against

  • Myocardial Infarction, Decreased Susceptibility To

  • Myocardial Infarction, Decreased

  • Myocardial Infarct

  • MCI1

  • Premature Myocardial Infarction

  • Myocardial Infarction, Susceptibility To, 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

Crigler-Najjar Syndrome, Type I
  • Crigler-Najjar Syndrome

  • Crigler-Najjar Syndrome Type 1

  • Bilirubin Udp Glucuronyl Transferase Deficiency

  • Crigler Najjar Syndrome

  • Crigler Najjar Syndrome, Type 1

  • Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency

  • Bilirubin-Ugt Deficiency

  • Hyperbilirubinemia, Crigler-Najjar Type I

  • Hblrcn1

  • Familial Nonhemolytic Unconjugated Hyperbilirubinemia

  • Hereditary Unconjugated Hyperbilirubinemia

  • Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1

  • Bilirubin-Ugt Deficiency Type 1

  • Crigler-Najjar Syndrome 1

  • CN1

  • Cn-I

  • Crigler-Najjar Syndrome Type I

  • Hereditary Unconjugated Hyperbilirubinaemia

  • Ugt Deficiency

  • Bilirubin Glucuronosyltransferase Deficiency

  • Crigler-Najjar Disease Or Syndrome

  • Deficiency Of Glucuronosyltransferase

  • Glucuronyl Transferase Deficiency

  • Glucuronyltransferase Deficiency

  • Udp Glucuronyl Transferase Deficiency

  • Cns - [Crigler-Najjar Syndrome]

  • Congenital Familial Nonhemolytic Jaundice

Deficiency Anemia
  • Anemia

  • Deficiency Anemias

  • Anaemia

Stroke, Ischemic
  • Cerebral Infarction

  • Stroke

  • Ischemic Stroke

  • Cerebrovascular Accident

  • Cerebral Infarction, Susceptibility To

  • Stroke, Ischemic, Susceptibility To

  • Cerebral Infarct

  • Ischemic Stroke, Susceptibility To

  • Stroke, Susceptibility To

  • Cva - Cerebral Infarction

  • ISCHSTR

  • Ischemic Cerebrovascular Accident

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

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

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

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
Mus musculus F9 MGD MGI:88384
Macaca mulatta F9 VGNC VGNC:72468
Felis catus F9 VGNC VGNC:62029
Bos taurus F9 VGNC VGNC:28691
Canis familiaris F9 VGNC VGNC:40554
Rattus norvegicus F9 RGD RGD:2589
Others F9 NCBI