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

EGF

FXa_inhibition

Trypsin

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

Related Agents

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-14649G	Retinoic acid (GMP)	Agonist	/	Phase 3

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99029	Magrolimab	Inhibitor	96.40%	Phase 3

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13589	Cemadotin	Inhibitor	/	Unkown
HY-155741	CB2 PET Radioligand 1		/	Unkown
HY-158320	T3SS-IN-5		/	Unkown
HY-162131	Antitumor agent-132		/	Unkown
HY-RS04648	F9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Inhibitory Antibodies (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P99145	Anti-Mouse PD-L1/B7-H1 Antibody (10F.9G2)	Inhibitor	99.60%	Unkown
HY-P99232	Indusatumab		≥99.0%	Unkown

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