1. Gene
  2. F9 - coagulation factor IX Gene

F9 - coagulation factor IX Gene

Homo sapiens

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

Gene ID: 2158 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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%

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
Macaca fascicularis F9 NCBI NCBI:102146175
Canis lupus familiaris F9 NCBI
Leporidae F9 NCBI
Others F9 NCBI