CFHR2 - complement factor H related 2 Gene

Also Known as FHR2; HFL3; CFHL2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3080

About CFHR2

Cytogenetic location: 1q31.3 Genomic coordinates (GRCh38): 1:196,943,738-196,959,622 (from NCBI)

This gene has 12 transcripts (splice variants), 55 orthologues, 39 paralogues and is associated with 1 phenotype. Restricted expression toward liver (RPKM 292.8).

Summary

This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement Factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]

CFHR2 Products (3)

mRNA Protein Name
NM_001312672.1 NP_001299601.1 complement factor H-related protein 2 isoform 2 precursor
NM_001410924.1 NP_001397853.1 complement factor H-related protein 2 isoform 3 precursor
NM_005666.4 NP_005657.1 complement factor H-related protein 2 isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
23487775 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23487775 GOA
Biological Process GO Annotation Evidence References Source
involved in cytolysis by host of symbiont cells IMP
IMP: Inferred from mutant phenotype
23487775 GOA
involved in negative regulation of protein binding IMP
IMP: Inferred from mutant phenotype
23487775 GOA
Cellular Component GO Annotation Evidence References Source
part of protein-containing complex IDA
IDA: Inferred from direct assay
23487775 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

CFHR2 Protein Structure

Sushi

Sushi: Sushi repeat (SCR repeat) (23 - 83)

Sushi

Sushi: Sushi repeat (SCR repeat) (93 - 140)

Sushi

Sushi: Sushi repeat (SCR repeat) (149 - 203)

Sushi

Sushi: Sushi repeat (SCR repeat) (221 - 264)

  • 0
  • 100
  • 200
  • 270 a.a.
Protein Preferred Names Protein Names

complement factor H-related protein 2

  • DDESK59

CFHR2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CFHR2 P36980 CFHR2 Homo sapiens P36980
GMS
24260121
Intra
CFHR2 P36980 CFHR1 Homo sapiens Q03591
GMS
23728178
Intra
CFHR2 P36980 CFHR2 Homo sapiens P36980 23728178
Intra
CFHR2 P36980 CFHR1 Homo sapiens Q03591 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CFHR2 Proteins

Cat. No. Product Name Accession Purity
HY-P70031 CFHR2 Protein, Human (HEK293, His) P36980-1 (E19-K270) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
C3 Glomerulopathy
  • C3 Glomerulonephritis

  • C3g

  • Non-Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis

  • Glomerulonephritis With Dominant C3

  • Ddd

  • Ddd/Mpgnii

  • Dense Deposit Disease

  • Membranoproliferative Glomerulonephritis Type Ii

  • Non-Ig-Mediated Mpgn

  • Non-Ig-Mediated Membranoproliferative Glomerulonephritis

  • Non-Immunoglobulin-Mediated Mpgn

  • Membranoproliferative Glomerulonephritis, Type Ii

Degeneration Of Macula And Posterior Pole
  • Degeneration Of Macula And Posterior Pole Of Retina

  • Degeneration Of Macula Or Posterior Pole

  • Macular Degeneration Nos

  • Degenerative Disorder Of Macula

  • Drusen Macular Degeneration

  • Posterior Pole Macular Degeneration Of Eye

  • Macular Eye Degeneration

  • Macular Degeneration Of Retina, Unspecified

  • Pseudohole Degeneration Of Macula Of Retina

Eye Degenerative Disease
Kidney Cortex Necrosis
  • Renal Cortical Necrosis

Skeletal Tuberculosis
  • Tuberculosis, Osteoarticular

  • Osteoarticular Tuberculosis

Libman-Sacks Endocarditis
  • Libmann-Sachs, Endocarditis In Systemic Lupus Erythematosus

Tick-Borne Relapsing Fever
  • Relapsing Fever, Tick-Borne

  • Relapsing Fever Due To Any Borrelia Species Other Than Borrelia Recurrentis

  • African Tick-Borne Fever

Acrodermatitis Chronica Atrophicans
  • Acrodermatitis Atrophicans Chronica

  • Herxheimer Disease

  • Primary Diffuse Atrophy

Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
  • MCPH2

  • Primary Autosomal Recessive Microcephaly 2 With Or Without Cortical Malformations

  • Microcephaly, Primary Autosomal Recessive, 2

Immune-Complex Glomerulonephritis
  • Immune Complex Glomerulonephritis

Exudative Glomerulonephritis
Kidney Cortex Disease
Macular Degeneration, Age-Related, 1
  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2

Thoracic Outlet Syndrome
  • Tos

  • Tos - Thoracic Outlet Syndrome

  • Thoracic Outlet Syndromes

  • Thoracic Outlet Compression Syndrome

Complement Deficiency
  • Complement Deficiency Disease

  • Hereditary Complement Deficiency Diseases

Complement Component 3 Deficiency
  • C3 Deficiency

Hemolytic-Uremic Syndrome
  • Hemolytic Uremic Syndrome

  • Haemolytic-Uraemic Syndrome

  • Hus

  • Acute Renal Failure, Thrombocytopenia, And Microangiopathic Hemolytic Anemia Associated With Distorted Erythrocytes

  • Typical Haemolytic Uraemic Syndrome

  • Gasser Syndrome

  • Hus - [Haemolytic Uraemic Syndrome]

Hypersensitivity Reaction Type Iii Disease
  • Immune Complex Diseases

  • Immune Complex Disease

  • Type Iii Hypersensitivity Reaction Disease

Pasteurellosis
  • Pasteurella Infection

  • Pasteurella Infections

  • Pasteurella Infectious Disease

  • Shipping Fever

  • Transport Fever

Relapsing Fever
  • Febris Recurrens

  • Novy Febris Recurrens

  • Novy Relapsing Fever

Angioedema, Hereditary, 1
  • Hereditary Angioedema Type I

  • Hereditary Angioneurotic Edema

  • Hane

  • C1 Esterase Inhibitor Deficiency

  • Angioedema, Hereditary, 1 And 2

  • HAE1

  • Angioneurotic Edema, Hereditary

  • Angioedema, Hereditary, Type I

  • Hereditary Angioedema Type 2

  • Hae 2

  • Hae-Ii

  • Hereditary Angioneurotic Edema Type 2

  • Angioedema, Hereditary

  • HAE

  • Angioedema, Hereditary, Types I And Ii

  • Hereditary Angioedema, Type Ii

  • Angioedema, Hereditary, Type 1

  • Angioedemas, Hereditary

  • Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor

  • Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor

  • Hereditary Angioedema Types I And Ii

Hepatic Infarction
  • Infarct Of Liver

  • Hepatic Infarct

  • Liver Infarct

  • Liver Infarction

Kuhnt-Junius Degeneration
  • Neovascular Age-Related Macular Degeneration

  • Exudative Senile Macular Degeneration Of Retina

  • Senile Macular Degeneration, Wet

  • Wet Senile Macular Retinal Degeneration

  • Exudative Age-Related Macular Degeneration

  • Exudative Macular Degeneration

C1 Inhibitor Deficiency
  • Quincke Edema

  • Angioedemas, Hereditary

  • Angioedema

Sensory System Disease
Sorsby Fundus Dystrophy
  • SFD

  • Fundus Dystrophy, Pseudoinflammatory, Of Sorsby

  • Sorsby'S Fundus Dystrophy

  • Macular Dystrophy, Hemorrhagic

  • Hemorrhagic Macular Dystrophy

  • Pseudoinflammatory Fundus Dystrophy Of Sorsby

  • Sorsby'S Pseudoinflammatory Macular Dystrophy

  • Sorsby Pseudoinflammatory Fundus Dystrophy

  • Dystrophy, Fundus, Sorsby

Membranoproliferative Glomerulonephritis
  • Mesangiocapillary Glomerulonephritis

  • Dense Deposit Disease

  • Membranoproliferative Glomerulonephritis Type 2

  • Primary Membranoproliferative Glomerulonephritis

  • Mesangiocapillary Glomerulonephritis, Type Ii

  • Glomerulonephritis, Membranoproliferative

  • Chronic Glomerulonephritis, Lobular

  • Lobular Glomerulonephritis

  • Ddd

  • Glomerulonephritis Membranoproliferative Type 2

  • Mpgn 2

  • Membranoproliferative Glomerulonephritis Type Ii

  • Mesangiocapillary Glomerulonephritis Type 2

  • Mpgn

  • Primary Mpgn

  • Glomerulonephritis Membranoproliferative

  • Membranoproliferative Glomerulonephritis, Type Ii

Complement Component 5 Deficiency
  • C5 Deficiency

  • C5D

Hemolytic Uremic Syndrome, Atypical 1
  • Atypical Hemolytic-Uremic Syndrome

  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

  • Atypical Hemolytic Uremic Syndrome

  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To

  • Ahus

  • AHUS1

  • Hemolytic-Uremic Syndrome

  • Ahus 1

  • Ahus, Susceptibility To, 1

  • Hemolytic Uremic Syndrome, Atypical

  • Non-Shiga-Like Toxin-Associated Hus

  • Non-Stx-Hus

  • Nonenteropathic Hus

  • Atypical Hus

  • Shiga Toxin-Associated Hemolytic Uremic Syndrome

  • D+ Hus

  • Ehec-Hus

  • Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

  • Hemolytic Uremic Syndrome With Diarrhea

  • Stec-Hus

  • Shiga-Like Toxin-Associated Hus

  • Stx-Hus

  • Typical Hus

  • Typical Hemolytic Uremic Syndrome

  • Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

  • Atypical Hus With Anti-Factor H Antibodies

  • Ahus With Anti-Factor H Antibodies

  • Ahus With Neutralizing Autoantibodies Against Factor H

  • Hemolytic Uremic Syndrome Atypical 1

  • Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

  • D Hus

  • Hemolytic-Uremic Syndrome Without Diarrhea

  • Hemolytic-Uremic Syndrome, Atypical, Type 1

  • Hemolytic Uremic Syndrome, Typical

Anterior Uveitis
  • Iridocyclitis

  • Uveitis, Anterior

  • Acute Anterior Uveitis

  • Uveokeratitis

  • Keratouveitis

  • Cyclitis

  • Intraocular Inflammation

  • Kerato-Uveitis

  • Keratoiritis

  • Iritis

  • Uveitis Nos

  • Uveal Inflammation

  • Anterior Chamber Cell

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

Hereditary Retinal Dystrophy
  • Hereditary Retinal Dystrophies

Doyne Honeycomb Retinal Dystrophy
  • DHRD

  • Doyne Honeycomb Degeneration Of Retina

  • Dhd

  • Malattia Leventinese

  • Ml

  • Mlvt

  • Dystrophy, Retinal, Doyne Honeycomb

Malignant Hypertension
  • Hypertension, Malignant

  • Hypertension Malignant

Autoimmune Glomerulonephritis
Geographic Tongue
  • Benign Migratory Glossitis

  • Glossitis Areata Exfoliativa

  • Glossitis, Benign Migratory

  • Pityriasis Linguae

  • Ectopic Geographic Tongue

  • Erythema Migrans

  • Erythema Chronicum Migrans

  • Benign Migrating Glossitis

  • Geographical Tongue

  • Lingua Geographica

  • Erythema Migrans Of Tongue

  • Wandering Rash Of Tongue

Henoch-Schoenlein Purpura
  • Henoch-Schonlein Purpura

  • Iga Vasculitis

  • Allergic Purpura

  • Anaphylactoid Purpura

  • Rheumatoid Purpura

  • Immunoglobulin A Vasculitis

  • Vascular Purpura

  • Purpura Rheumatica

  • Henoch-Schönlein Purpura

  • Autoimmune Purpura

  • Henoch-Schnlein Purpura

  • Henoch-Sch@Nlein Purpura

  • Henoch-Scholein Purpura

  • Purpura, Autoimmune

  • Henoch Schonlein Purpura

  • Immunoglobulin-A Vasculitis

  • Purpura, Schonlein-Henoch

  • Purpura, Schönlein-Henoch

  • Hsp -

  • Schönlein-Henoch Purpura

Hypersensitivity Vasculitis
  • Cutaneous Small Vessel Vasculitis

  • Hypersensitivity Angiitis

  • Cutaneous Leukocytoclastic Vasculitis

  • Leukocytoclastic Angiitis

  • Vasculitis, Leukocytoclastic, Cutaneous

  • Leukocytoclastic Vasculitis

  • Cutaneous Leukocytoclastic Angiitis

  • Cutaneous Hypersensitivity Vasculitis

  • Vasculitis Hypersensitivity

  • Drug Induced Cutaneous Vasculitis

  • Allergic Vasculitis

Amebiasis
  • Amoebiasis

  • Entamoebiasis

  • Chronic Intestinal Amebiasis

  • Amoebiasis, Unspecified

  • Amebic Colitis

  • Amoebic Enteritis

  • Infection Due To Entamoeba Histolytica

  • Amoebic Infection

  • Disease Due To Endamoebidae

  • Amoebiasis Nos

Primary Bacterial Infectious Disease
Meningococcal Meningitis
  • Meningitis, Meningococcal

  • Meningitis Meningococcal

  • Epidemic Meningitis

  • Meningitis Due To Neisseria Meningitidis

  • Meningococcal Meninges Infection

  • Meningococcal Meningeal Infection

  • Meningococcal Cerebrospinal Inflammation

  • Chronic Meningococcal Arachnoiditis

  • Meningococcal Arachnoiditis

  • Diplococcal Spinal Meningitis

  • Diplococcal Meningitis

  • Meningococcal Cerebrospinal Fever

  • Meningococcal Cerebrospinal Infection

  • Meningococcal Spinal Meningitis

Atrophic Glossitis
  • Atrophy Of Tongue Papillae

  • Glossitis, Hunter'S

  • Hunter'S Glossitis

  • Smooth Atrophic Tongue

  • Hunter Glossitis

  • Central Papillary Atrophy Of The Tongue

Crescentic Glomerulonephritis
  • Idiopathic Crescentic Glomerulonephritis

Acute Proliferative Glomerulonephritis
  • Acute Glomerulonephritis With Lesion Of Proliferative Glomerulonephritis

  • Acute Post-Streptococcal Glomerulonephritis

Retinal Drusen
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

Retinal Disease
  • Retinal Diseases

  • Retinal Disorder

  • Retinal Disorders

Acute Poststreptococcal Glomerulonephritis
  • Post-Streptococcal Glomerulonephritis

  • Acute Post-Streptococcal Glomerulonephritis

Proliferative Glomerulonephritis
Iga Glomerulonephritis
  • Iga Nephropathy

  • Glomerulonephritis, Iga

  • Berger'S Iga Or Igg Nephropathy

  • Focal Glomerulonephritis

  • Primary Iga Nephropathy

  • Segmental Glomerulonephritis

  • Berger Disease

  • Berger'S Disease

  • Igan

  • Nephritis, Iga Type

  • Nephropathy Iga

  • Glomerulonephritis Focal

  • Iga Nephropathy, Susceptibility To

  • Primary Immunoglobulin A Nephropathy

Infective Endocarditis
  • Bacterial Endocarditis

  • Endocarditis, Infective

  • Infectious Endocarditis

  • Endocarditis Infective

Acrodermatitis
Autoimmune Disease Of Urogenital Tract
Methylmalonic Aciduria And Homocystinuria, Cblc Type
  • MAHCC

  • Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase

  • Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic

  • Methylmalonic Aciduria And Homocystinuria Type Cblc

  • Cobalamin C Disease

  • Methylmalonic Acidemia With Homocystinuria Cblc

  • Methylmalonic Acidemia And Homocystinuria, Cblc Type

  • Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive

  • Cobalamin C Deficiency

  • Methylmalonic Acidemia With Homocystinuria, Type Cblc

  • Cblc Defect

  • Cobalamin C Defect

  • Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc

  • Methylmalonic Aciduria With Homocystinuria, Type Cblc

  • Methylmalonic Acidemia And Homocystinuria Cblc Type

  • Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive

  • Aciduria, Methylmalonic, And Homocystinuria, Cblc Type

  • Methylmalonic Acidemia With Homocystinuria

Rapidly Progressive Glomerulonephritis
  • Glomerulonephritis Rapidly Progressive

  • Idiopathic Crescentic Glomerulonephritis

Thrombotic Thrombocytopenic Purpura
  • Purpura, Thrombotic Thrombocytopenic

  • Ttp

  • Thrombotic Thrombocytopenic Purpura, Acquired

  • Idiopathic Thrombotic Thrombocytopenic Purpura

  • Moschcowitz Disease

  • Moschcowitz'S Syndrome

  • Moschowitz Syndrome

  • Chronic Relapsing Thrombotic Thrombocytopenic Purpura

  • Familial Thrombotic Thrombocytopenia Purpura

  • Moschkowitz Disease

  • Purpura Thrombotic Thrombocytopenic

  • Familial Thrombotic Thrombocytopenic Purpura

  • Microangiopathic Hemolytic Anemia

  • Congenital Thrombotic Thrombocytopenic Purpura

  • Autoimmune Thrombotic Thrombocytopenic Purpura

  • Ttp - [Thrombotic Thrombocytopenic Purpura]

  • Moschcowitz Syndrome

Thalassemia Minor
Epidermodysplasia Verruciformis 1
  • Epidermodysplasia Verruciformis

  • Epidermodysplasia Verruciformis, Susceptibility To, 1

  • Lutz-Lewandowsky Epidermodysplasia Verruciformis

  • EV1

  • Lewandowsky-Lutz Syndrome

  • Ev

Urinary System Disease
  • Abnormality Of The Urinary System

  • Non-Neoplastic Urinary Tract Disease

  • Urinary Tract Disease

  • Urinary Tract Diseases

  • Urinary Tract Anomaly

  • Urologic Diseases

  • Non-Neoplastic Urinary System Disorder

  • Congenital Malformation Of The Urinary System

Eastern Equine Encephalitis
  • Eee

  • Neuroinvasive Eastern Equine Encephalitis Virus Infection

  • Eastern Equine Encephalomyelitis

  • Encephalomyelitis, Eastern Equine

  • Triple E

  • Eastern Equine Encephalitis Virus Infection

  • Neuroinvasive Eastern Equine Encephalitis Virus Disease

  • Eee - [Eastern Equine Encephalitis]

Multicentric Castleman Disease
  • Mcd

  • Multicentric Giant Lymph Node Hyperplasia

  • Plasmablastic Multicentric Castleman Disease

  • Pmcd

  • Idiopathic Multicentric Castleman Disease

  • Multi-Centric Castleman'S Disease

  • Idiopathic Multicentric Castleman'S Disease

  • Multicentric Plasma Cell Variant Of Castleman'S Disease

  • Hhv-8-Negative Multicentric Castleman Disease

  • Human Herpesvirus-8-Negative Multicentric Castleman Disease

Panuveitis
  • Diffuse Uveitis

  • Total Uveitis

  • Inflammation Of The Whole Uveal Tract

Western Equine Encephalitis
  • Western Equine Encephalomyelitis

  • Wee

  • Encephalomyelitis, Western Equine

  • Western Equine Encephalitis Virus Infection

  • Wee - [Western Equine Encephalitis]

  • Western Equine Encephalitis Virus

Anuria
  • Suppression Of Urinary Secretion

Berylliosis
  • Beryllium Poisoning

  • Beryllium Disease

  • Lung Fibrosis With Berylliosis

Immune System Disease
  • Abnormality Of The Immune System

  • Immune System And Disorders

  • Immune System Diseases

Autoimmune Disease Of Musculoskeletal System
C Syndrome
  • Opitz Trigonocephaly Syndrome

  • Trigonocephaly

  • Trigonocephaly Syndrome

  • Trigonocephaly C Syndrome

  • Opitz C Trigonocephaly

  • Opitz Trigonocephaly C Syndrome

  • Otcs

  • CSYN

Heavy Chain Disease
  • Hcd

Lyme Disease
  • Lyme Borreliosis

  • Lyme Neuroborreliosis

  • Borreliosis

  • Borrelia Burgdorferi Infection

  • Neuroborreliosis

  • Bannwarth Syndrome

  • Bannworth'S Syndrome

  • Neurological Lyme Disease

  • B. Burgdorferi Infection

  • Borreliosis, Lyme

  • Infection By Borrelia Burgdorferi

  • Infection Due To Borrelia Burgdorferi Sensu Lato

  • Lym

  • Borrelia Infections

Substance-Induced Psychosis
Blood Platelet Disease
  • Platelet Disorder

  • Blood Platelet Disorders

  • Thrombocytopathy

  • Platelet Dysfunction

  • Platelet Disorders

  • Qualitative Platelet Deficiency

Membranous Nephropathy
  • Membranous Glomerulonephritis

  • Glomerulonephritis, Membranous

  • Idiopathic Membranous Nephropathy

  • Idiopathic Membranous Glomerulonephritis

  • MBNP

  • Membranous Nephropathy, Susceptibility To

  • Extramembranous Glomerulonephritis

  • Mgn

  • Membranous Gn

  • Primary Membranous Glomerulonephritis

  • Primary Membranous Nephropathy

  • Nephropathy Membranous

Mesangial Proliferative Glomerulonephritis
  • Glomerulonephritis - Mesangial Proliferative

  • Mesangial Proliferative Gn

  • Mesangioproliferative Glomerulonephritis

  • Glomerulonephritis Mesangial Proliferative

Methylmalonic Acidemia
  • Methylmalonic Aciduria

  • Mma

  • Acidemia, Methylmalonic

  • Isolated Methylmalonic Acidemia

Paroxysmal Nocturnal Hemoglobinuria
  • Marchiafava-Micheli Disease

  • Pnh

  • Hemoglobinuria, Paroxysmal

  • Marchiafava-Micheli Syndrome

  • Paroxysmal Hemoglobinuria Nocturnal

  • Nocturnal Haemoglobinuria

  • Nocturnal Paroxysmal Haematuria

  • Nocturnal Paroxysmal Haemoglobinaemia

Severe Pre-Eclampsia
  • Severe Preeclampsia

  • Antepartum Severe Pre-Eclampsia

  • Postpartum Severe Pre-Eclampsia

  • Severe Pre-Eclampsia, With Delivery

  • Severe Toxemia

  • Severe Pre-Eclampsia, Antepartum Condition Or Complication

  • Severe Pre-Eclampsia, Postpartum Condition Or Complication

  • Severe Puerperal Pre-Eclampsia

  • Severe Pre-Eclamptic Toxaemia

  • Severe Pet - [Pre-Eclamptic Toxaemia]

Autoimmune Disease Of Cardiovascular System
Venezuelan Equine Encephalitis
  • Venezuelan Equine Fever

  • Venezuelan Equine Encephalomyelitis

  • Encephalitis Venezuelan Equine

  • Encephalomyelitis, Venezuelan Equine

  • Venezuelan Encephalitis

  • Disorder Due To Venezuelan Equine Encephalitis Virus

  • Venezuelan Equine Encephalitis Virus Infection

  • Venezuelan Equine Encephalomyelitis Virus Disease

Afibrinogenemia, Congenital
  • Congenital Afibrinogenemia

  • Afibrinogenemia

  • Factor I Deficiency

  • Familial Afibrinogenemia

  • Hypofibrinogenemia, Congenital

  • Fibrinogen Deficiency

  • Afibrinogenemia Congenital

  • CAFBN

  • Congenital Hypofibrinogenemia

  • Hypofibrinogenemia

  • Complement Factor I Deficiency

Placental Abruption
  • Abruptio Placentae

  • Abruptio Placenta

  • Abortion, Threatened

  • Threatened Miscarriage

  • Haemorrhage Specified As Due To Threatened Abortion

  • Spontaneous Threatened Abortion

Monoclonal Gammopathy Of Uncertain Significance
  • Monoclonal Gammopathy Of Undetermined Significance

  • Mgus

  • Mgus - [Monoclonal Gammopathy Of Undetermined Significance]

  • Monoclonal Gammopathy Nos

  • Iga Gammopathy

  • Monoclonal Gammoglobulinopathy

Pyelitis
Extrapulmonary Tuberculosis
  • EPTB

  • Tuberculosis, Extrapulmonary

Primary Autosomal Recessive Microcephaly
  • Autosomal Recessive Primary Microcephaly

  • Mcph

  • True Microcephaly

  • Microcephalia Vera

  • Microcephaly Vera

  • Microcephaly Primary Hereditary

  • Microcephaly, Primary, Autosomal Recessive

  • Primary Microcephaly

Hereditary Angioedema
  • Hereditary Angioneurotic Edema

  • Hereditary Angioedema Type 1

  • Hane

  • Angioedema, Hereditary

  • Hae

  • Angioedemas, Hereditary

  • Deficiency Of C1 Esterase Inhibitor

  • C1 Esterase Inhibitor Deficiency

  • C1 Inhibitor Deficiency

  • Familial Angioneurotic Edema

  • Hereditary Bradykinine-Induced Angioedema

  • Hereditary Non Histamine-Induced Angioedema

  • Hae 1

  • Hae-I

  • Hereditary Angioneurotic Edema Type 1

  • Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor

  • Hereditary Angioedema Types I And Ii

  • Hereditary Angioneurotic Oedema

  • Familial Angioedema

  • Hae - [Hereditary Angioneurotic Oedema]

  • Bannister Disease, Hereditary

  • Quincke Disease Or Oedema

  • Hereditary Quincke Oedema

Goodpasture Syndrome
  • Anti-Glomerular Basement Membrane Disease

  • Anti-Gbm Disease

  • Pulmonary Renal Syndrome

  • Anti-Glomerular Basement Membrane Antibody Disease

  • Glomerulonephritis - Pulmonary Hemorrhage

  • Rapidly Progressive Glomerulonephritis With Pulmonary Hemorrhage

  • Anti-Gbm Syndrome

  • Goodpasture'S Syndrome

  • Anti-Basement Membrane Glomerulonephritis

Parasitic Protozoa Infectious Disease
  • Protozoan Infections

  • Mastigophora Infectious Disease

  • Sarcomastigophora Infectious Disease

Disease By Infectious Agent
  • Infectious Disease

  • Infectious Diseases

Endocardium Disease
Organic Acidemia
  • Organic Aciduria

  • Disorder Of Organic Acid Metabolism

  • Organic Acid Metabolism Disorder

  • Organic Acidemias

  • Inherited Organic Acidemia

  • Organic Acidurias

  • Aciduria Organic

Urinary Tract Infection
  • Urinary Tract Infections

  • Uti

  • Urinary Tract Infection Nos

  • Uti - [Urinary Tract Infection]

  • Uti Nos - [Urinary Tract Infection Nos]

  • Urosepsis Nos

  • E Coli Uti

  • E Coli Urinary Tract Infection

  • Escherichia Coli Uti

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Bacterial Infectious Disease
  • Bacterial Infections

  • Bacterial Infection Nos

  • Disease Caused By Bacteria

  • Bacterial Disease Or Disorder

Primary Microcephaly
  • True Microcephaly

  • Microcephaly, Primary

Hemolytic Anemia
  • Anemia, Hemolytic

  • Anemia Hemolytic

  • Anaemia Due To Other Disorders Of Glutathione Metabolism

  • Chronic Non Spherocytic Anaemia

  • G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

  • Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

  • Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

  • Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

  • Favism Anaemia

  • Haemolytic Anaemia Due Tog6pd Deficiency

  • Favism

  • Pentose Phosphate Pathway Disorder Anaemia

  • Anaemia Due To Pentose Phosphate Pathway Defect

Chronic Kidney Disease
  • Chronic Renal Disease

  • Chronic Kidney Failure

  • Ckd

  • Chronic Renal Failure

  • Kidney Failure, Chronic

  • Chronic Renal Failure Syndrome

  • Crf

  • Renal Failure - Chronic

  • Renal Failure Chronic

  • Chronic Kidney Diseases

  • Chronic Kidney Disease Stage 5

  • Ckd - [Chronic Kidney Disease]

  • Crf - [Chronic Renal Failure]

  • Chronic Kidney Impairment

  • Chronic Renal Impairment

  • Chronic Kidney Shutdown

  • Chronic Hypoxic Kidney Failure

  • Chronic Kidney Collapse

  • Chronic Renal Insufficiency

  • Chronic Kidney Toxaemia

  • Chronic Kidney Hypofunction

  • Chronic Renal Suppression

  • Chronic Renal Failure, Stage 5

  • Ckd - [Chronic Kidney Disease] Stage 5

  • End Stage Kidney Failure

  • End Stage Renal Failure

  • End Stage Kidney Disease

  • End Stage Renal Disease

  • End Stage Chronic Renal Failure

  • Esrf - [End Stage Renal Failure]

  • Esrd - [End Stage Renal Diseases]

  • Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Collagen Disease
  • Collagen Diseases

  • Collagen Disorder

Trypanosomiasis
Immune Deficiency Disease
  • Immunodeficiency

  • Primary Immunodeficiency

  • Primary Immunodeficiency Disease

  • Immunologic Deficiency Syndromes

  • Hypoimmunity

  • Immune Deficiency Disorder

  • Immunodeficiency Syndrome

  • Immune Disorder

  • Primary Immune Deficiency Disorder

  • Immune System Diseases

  • Human Immunodeficiency Virus Infection

  • Hiv - [Human Immunodeficiency Virus Infection]

  • Hiv Positive Nos

  • Hiv Disease

  • Acquired Immune Deficiency Syndrome-Related Complex

  • Aids-Like Syndrome

  • Aids-Related Complex Nos

  • Arc - [Aids-Related Complex]

  • Immunodeficiency Due To Human Immunodeficiency Virus Infection

  • Unspecified Human Immunodeficiency Virus Disease

  • Hiv Disease Nos

  • Human Immunodeficiency Virus Positive Nos

  • Hiv Nos

  • Deficiency Of Complement Initial Pathway

  • Deficiency Of Complement Terminal Pathway

  • Cfdd - [Complement Factor D Deficiency]

  • Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

  • Nonfamilial Hypogammaglobulinaemia

  • Common Variable Immune Deficiency

  • Nonfamilial Agammaglobulinaemia

  • Common Variable Agammaglobulinaemia

  • Agammaglobulinaemia Nos

  • Agammaglobulinaemia Antibody Deficiency Syndrome

  • Hypogammaglobulinaemia Antibody Deficiency Syndrome

  • Acquired Agammaglobulinaemia Nos

  • Hypogammaglobulinaemia Nos

  • Hyper Igm

Arteries, Anomalies Of
  • Artery Disease

  • Arteriopathic Disease

Cakut
  • Renal Or Urinary Tract Malformation

  • Congenital Anomalies Of Kidney And Urinary Tract

  • Congenital Anomaly Of Kidney And Urinary Tract

  • Congenital Anomalies Of The Kidney And Urinary Tract

  • Kidney And Urinary Tract, Anomalies, Congenital

  • Renal Hypodysplasia, Nonsyndromic, 1

Retinal Degeneration
  • Degeneration Of Retina

Deficiency Anemia
  • Anemia

  • Deficiency Anemias

  • Anaemia

Systemic Lupus Erythematosus
  • Lupus Nephritis

  • SLE

  • Disseminated Lupus Erythematosus

  • Systemic Lupus Erythematosus, Susceptibility To

  • Lupus Erythematosus, Systemic

  • Lupus Nephritis, Susceptibility To

  • Libman-Sacks Disease

  • Systemic Lupus Erythematosus Susceptibility To

  • Sle - Lupus Erythematosus, Systemic

  • Le Syndrome

  • Lupus

  • Lupus Erythematosus Systemic

  • Lupus Erythematosus, Systemic, Susceptibility To

  • Lupus Vulgaris

  • Lupus Erythematosus, Discoid

  • Lupus Erythematosus

  • Systemic Lupus Erythematosus Nos

  • Sle - [Systemic Lupus Erythematosus]

Bilirubin Metabolic Disorder
  • Hyperbilirubinemia

  • Hereditary Hyperbilirubinemia

  • Hyperbilirubinemia, Hereditary

  • Hyperbilirubinaemia

Focal Segmental Glomerulosclerosis
  • Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

  • Focal Glomerulosclerosis

  • Fsgs

  • Segmental Glomerulosclerosis

  • Glomerulosclerosis, Focal Segmental

  • Fgs

  • Focal Glomerular Sclerosis

  • Familial Idiopathic Nephrotic Syndrome

  • Focal Sclerosis With Hyalinosis

  • Glomerulosclerosis, Focal

  • Glomerulosclerosis Focal

  • Glomerulosclerosis, Segmental, Focal

  • Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Cervix Carcinoma
  • Cancer Of Cervix

  • Carcinoma Of Cervix

  • Carcinoma Cervix Uteri

  • Carcinoma Of The Cervix Uteri

Connective Tissue Disease
  • Connective Tissue Diseases

  • Connective Tissue Disorder

  • Abnormality Of Connective Tissue

  • Disorder Of Connective Tissue

  • Connective Tissue Disorders

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

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 CFHR2 MGD MGI:2138169