1. Gene
  2. CFH - complement factor H Gene

CFH - complement factor H Gene

Homo sapiens

Also known as FH; HF; HF1; HF2; HUS; FHL1; AHUS1; AMBP1; ARMD4; ARMS1; CFHL3

Gene ID: 3075 | Gene type: protein coding

About CFH

Cytogenetic location: 1q31.3 Genomic coordinates (GRCh38): 1:196,652,043-196,747,504 (from NCBI)

This gene has 39 transcripts (splice variants), 19 orthologues, 39 paralogues and is associated with 12 phenotypes. Biased expression in liver (RPKM 390.3), gall bladder (RPKM 78.0) and 9 other tissues.

Summary

This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]

CFH Products(2)

mRNA Protein Name
NM_000186.4 NP_000177.2 complement factor H isoform a precursor
NM_001014975.3 NP_001014975.1 complement factor H isoform b precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables heparan sulfate proteoglycan binding IDA
IDA: Inferred from direct assay
22471560 GOA
enables heparin binding IDA
IDA: Inferred from direct assay
22471560 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
19505476 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16612335 GOA
Biological Process GO Annotation Evidence Reference Source
involved in complement activation IDA
IDA: Inferred from direct assay
24835392 GOA
involved in proteolysis IDA
IDA: Inferred from direct assay
28671664 GOA
acts upstream of or within regulation of complement activation IDA
IDA: Inferred from direct assay
25284781 GOA
involved in regulation of complement activation, alternative pathway IDA
IDA: Inferred from direct assay
20378178 GOA
acts upstream of or within regulation of complement-dependent cytotoxicity IDA
IDA: Inferred from direct assay
25284781 GOA
Cellular Component GO Annotation Evidence Reference Source
part of serine-type endopeptidase complex IPI
IPI: Inferred from physical interaction
28671664 GOA
located in symbiont cell surface IDA
IDA: Inferred from direct assay
23332154 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

CFH Protein Structure

Sushi

Sushi: Sushi repeat (SCR repeat) (32 - 80)

Sushi

Sushi: Sushi repeat (SCR repeat) (85 - 141)

Sushi

Sushi: Sushi repeat (SCR repeat) (154 - 205)

Sushi

Sushi: Sushi repeat (SCR repeat) (210 - 262)

Sushi

Sushi: Sushi repeat (SCR repeat) (267 - 320)

Sushi

Sushi: Sushi repeat (SCR repeat) (325 - 385)

Sushi

Sushi: Sushi repeat (SCR repeat) (395 - 442)

Sushi

Sushi: Sushi repeat (SCR repeat) (455 - 505)

Sushi

Sushi: Sushi repeat (SCR repeat) (509 - 564)

Sushi

Sushi: Sushi repeat (SCR repeat) (574 - 623)

Sushi

Sushi: Sushi repeat (SCR repeat) (630 - 684)

Sushi

Sushi: Sushi repeat (SCR repeat) (691 - 744)

Sushi

Sushi: Sushi repeat (SCR repeat) (811 - 864)

Sushi

Sushi: Sushi repeat (SCR repeat) (870 - 926)

Sushi

Sushi: Sushi repeat (SCR repeat) (931 - 984)

Sushi

Sushi: Sushi repeat (SCR repeat) (993 - 1043)

Sushi

Sushi: Sushi repeat (SCR repeat) (1048 - 1102)

Sushi

Sushi: Sushi repeat (SCR repeat) (1109 - 1163)

Sushi

Sushi: Sushi repeat (SCR repeat) (1189 - 1228)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1231 a.a.
Protein Preferred Names Protein Names

complement factor H

H factor 1 (complement)

Recombinant CFH Proteins

Cat. No. Product Name Accession Purity
HY-P7890 Complement factor H/CFH Protein, Human (431a.a, HEK293, His) P08603-2 (E19-L449) ≥95%
HY-P72946 Complement factor H/CFH Protein, Human (372a.a, HEK293, His) P08603-1 (S860-R1231) ≥95%

Related Diseases

Diseases Alias
Complement Factor H Deficiency

Factor H Deficiency

CFHD

Cfh Deficiency

C3 Glomerulopathy 1

C3g1

Immunodeficiency With Factor H Anomaly

Deficiency, Complement Factor H

Membranoproliferative Glomerulonephritis, Type Ii

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

Macular Degeneration, Age-Related, 4

Age Related Macular Degeneration 4

ARMD4

Macular Degeneration, Age-Related, Type 4

Basal Laminar Drusen

Drusen Of Bruch Membrane

Drusen, Cuticular

Drusen, Early Adult-Onset, Grouped

Cuticular Drusen

Early Adult-Onset Grouped Drusen

BLD

Drusen Cuticular

Drusen Early Adult-Onset Grouped

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

D-Minus Hemolytic Uremic Syndrome

Atypical Hus

Atypical Hemolytic Uremic Syndrome

Hus, Atypical

Ahus

Nephrotic Syndrome, Type 7

Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 7

NPHS7

Nephrotic Syndrome Type 7

Ig-Mediated Membranoproliferative Glomerulonephritis

Ig-Mediated Mpgn

Immunoglobulin-Mediated Mpgn

Nephrotic Syndrome, Type 7, With Membranoproliferative Glomerulonephritis

Hemolytic Uremic Syndrome, Atypical 7

Nephrotic Syndrome Type 7 With Membranoptoliferative Glomerulonephritis

Hemolytic Uremic Syndrome With Dgke Deficiency

Hus With Dgke Deficiency

Hemolytic Uremic Syndrome Atypical 7

AHUS7

Nephrotic Syndrome 7

Nephrotic Syndrome Type 7 With Membranoproliferative Glomerulonephritis

Familial Drusen

Malattia Leventinese

Doyne Honeycomb Retinal Dystrophy

Dhrd

Dominant Drusen

Dominant Radial Drusen

Atypical Hemolytic Uremic Syndrome With Complement Gene Abnormality

Atypical Hus With Complement Gene Abnormality

Ahus With Complement Gene Abnormality

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]

De Novo Thrombotic Microangiopathy After Kidney Transplantation
Relapsing Fever

Febris Recurrens

Novy Febris Recurrens

Novy Relapsing Fever

Retinal Drusen
Hellp Syndrome

Hemolysis, Elevated Liver Enzymes, Lowered Platelets

Hemolysis, Elevated Liver Enzymes, Low Platelets In Pregnancy

Hemolysis-Elevated Liver Enzymes-Low Platelets Syndrome

Hellp - [Syndrome Of Haemolysis, Elevated Liver Enzymes And Low Platelet]

Haemolysis-Elevated Liver Enzymes-Low Platelet Count Syndrome

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

Choroiditis

Posterior Uveitis

End Stage Renal Disease

End Stage Renal Failure

End-Stage Kidney Disease

Kidney Failure, Chronic

Chronic Kidney Disease Stage 5

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

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

Central Serous Chorioretinopathy

Central Serous Chorioretinopathy After Bone Marrow Transplantation

Central Serous Choroidopathy

Cscr

Central Serous Retinopathy

Central Serous Choroidoretinopathy

Glomerulonephritis

Bright'S Disease

Collagen Type Iii Glomerulopathy

Collagenofibrotic Glomerulopathy

Spirochetes Disease

Spirochaetales Infections

Thrombotic Thrombocytopenic Purpura, Hereditary

Upshaw-Schulman Syndrome

Microangiopathic Hemolytic Anemia

Thrombotic Microangiopathy, Familial

Uss

Schulman-Upshaw Syndrome

Thrombotic Thrombocytopenic Purpura, Familial

Congenital Thrombotic Thrombocytopenic Purpura

TTP

Thrombotic Thrombocytopenic Purpura, Congenital

Upshaw Factor, Deficiency Of

Microangiopathic Hemolytic Anemia, Congenital

Thrombotic Thrombocytopenic Purpura, Hereditary, Infantile- Or Adult-Onset

Ttp, Congenital

Congenital Adamts-13 Deficiency

Congenital Ttp

Familial Ttp

Upshaw-Schülman Syndrome

Deficiency Of Upshaw Factor

Microangiopathic Hemolytic Anemia Congenital

Moschkowitz Disease

Thrombotic Microangiopathy Familial

Thrombotic Thrombocytopenic Purpura Familial

Anemia Hemolytic Microangiopathic

Purpura, Thrombotic Thrombocytopenic

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

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

West Nile Virus

West Nile Virus, Susceptibility To

Wnv

Wnv, Susceptibility To

West Nile Viral Infection

Encephalitis, West Nile Fever

West Nile Fever

Histoplasmosis

Darling Disease

Reticuloendotheliosis, X-Linked

Infection By Histoplasma Capsulatum

Histoplasma Infection

Reticuloendothelial Cytomycosis

Cytomycosis

Darling Histoplasmosis

African Histoplasmosis

Histoplasmosis Duboisii

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Antiphospholipid Syndrome

Antiphospholipid Antibody Syndrome

Hughes Syndrome

Familial Antiphospholipid Syndrome

Aps

Lupus Anticoagulant, Familial

Anti-Phospholipid Syndrome

Apls

Classic Apls

Classic Antiphospholipid Syndrome

Acromegaloid Facial Appearance Syndrome

Anticardiolipin Syndrome

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

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

Alport Syndrome

Hereditary Nephritis

Alport Syndrome, X-Linked

Hemorrhagic Hereditary Nephritis

Congenital Hereditary Hematuria

Hemorrhagic Familial Nephritis

Familial Nephritis

Thin Basement Membrane Disease

Thin Basement Membrane Nephropathy

Hematuria-Nephropathy-Deafness Syndrome

Hematuric Hereditary Nephritis

Hereditary Familial Congenital Hemorrhagic Nephritis

Hereditary Hematuria Syndrome

Hereditary Interstitial Pyelonephritis

Alport Deafness-Nephropathy

Alport Hearing Loss-Nephropathy

Alports Syndrome

Nephritis, Hereditary

Eye Degenerative Disease
Acute Kidney Failure

Acute Renal Failure

Acute Kidney Injury

Renal Failure Acute

Kidney Failure, Acute

Pre-Renal Acute Kidney Injury

Nontraumatic Acute Kidney Injury

Aki - [Acute Kidney Injury]

Arf - [Acute Kidney Failure]

Acute Kidney Disease

Acute Kidney Impairment

Acute Ischaemic Renal Failure

Acute Hypoxic Kidney Failure

Acute Kidney Shutdown

Acute Renal Oedema

Acute Renal Impairment

Acute Kidney Collapse

Acute Necrotising Kidney

Acute Renal Suppression

Complement Deficiency

Complement Deficiency Disease

Hereditary Complement Deficiency Diseases

Stargardt Disease

Stargardt Disease 1

Stargardt Macular Dystrophy

Stargardt Disease-1

Juvenile Onset Macular Degeneration

Stargardt Macular Degeneration

Juvenile Macular Degeneration

Macular Dystrophy With Flecks, Type 1

Stgd

Fundus Flavimaculatus

Stargardt 1

Stargardts Disease

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

Retinal Detachment

Retinal Detachments

Rhegmatogenous Retinal Detachment

Ruptured Retina With Detachment

Retinal Hole With Detachment

Haemophilus Influenzae
Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Pseudoxanthoma Elasticum

PXE

Gronblad-Strandberg Syndrome

Pseudoxanthoma Elasticum, Modifier Of Severity Of

Gronblad-Strandberg-Touraine Syndrome

Gronblad Strandberg Syndrome

Groenblad-Strandberg Syndrome

Nevus Elasticus

Pxe - [Pseudoxanthoma Elasticum]

Louse-Borne Relapsing Fever

Relapsing Fever, Louse-Borne

Relapsing Fever Due To Borrelia Recurrentis

Malignant Hypertension

Hypertension, Malignant

Hypertension Malignant

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

Angioid Streaks
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

Macular Dystrophy, Patterned, 3

Martinique Crinkled Retinal Pigment Epitheliopathy

Patterned Macular Dystrophy 3

MDPT3

Mcrpe

Acute Poststreptococcal Glomerulonephritis

Post-Streptococcal Glomerulonephritis

Acute Post-Streptococcal Glomerulonephritis

Doyne Honeycomb Retinal Dystrophy

DHRD

Doyne Honeycomb Degeneration Of Retina

Dhd

Malattia Leventinese

Ml

Mlvt

Dystrophy, Retinal, Doyne Honeycomb

Cataract 23, Multiple Types

Cataract 23

CTRCT23

Lamellar Cataract 23

Cataract 23, Multiple Types, With Or Without Microcornea

Isolated Microphthalmia With Cataract 4

Mcopct4

Cataract, Type 23

Microphthalmia, Isolated, With Cataract 4

Degenerative Myopia

Pathological Myopia

Myopia, Degenerative

Degenerative Progressive High Myopia

Progressive High Myopia

Progressive High Myopia

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

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

Proliferative Glomerulonephritis
Hypertensive Retinopathy
Complement Component 3 Deficiency

C3 Deficiency

Kidney Disease

Renal Failure

Kidney Failure

Kidney Diseases

Nephropathy

Abnormality Of The Kidney

Impaired Renal Function Disease

Renal Anomaly

Kidney Dysfunction

Renal Disease

Nephropathies

Renal Failure Adverse Event

Abnormal Renal Function

Retinal Disease

Retinal Diseases

Retinal Disorder

Retinal Disorders

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]

Immune-Complex Glomerulonephritis

Immune Complex Glomerulonephritis

Sensory System Disease
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

Disseminated Chorioretinitis
Malaria

Malaria, Susceptibility To

Malaria, Resistance To

Malaria, Cerebral

Cerebral Malaria

Malaria, Severe, Susceptibility To

Malaria, Severe, Resistance To

Malaria, Cerebral, Susceptibility To

Induced Malaria

Malaria, Vivax, Protection Against

Malaria, Severe

Malaria, Cerebral, Reduced Risk Of

Malaria, Protection Against

Resistance To Malaria Due To G6pd Deficiency

Malaria Due To G6pd Deficiency

Malarial Encephalitis

CM

Malaria Cerebral

Susceptibility To Malaria

Acute Pernicious Fever

Aestivo-Autumnal Fever

Aestivo Autumnal Malaria

Chagres Fever

Continued Malaria Fever

Estivo-Autumnal Fever

Estivo-Autumnal Malaria

Estivo-Autumnal Malarial Fever

Falciparum Fever

Malignant Tertian Fever

Malignant Tertian Malaria

Pernicious Intermittent Fever

Pernicious Malaria

Quotidian Malaria

Subtertian Fever

Subtertian Malaria Fever

Subtertian Malignant Tertian Malaria

Tropical Malaria

Algid Malaria

Bilious Haemoglobinuric Fever

Black Water Fever

Blackwater Fever

Malarial Blackwater Fever

Severe Malarial Falciparum

West African Fever

Malarial Haematinuria

Haemoglobinuric Fever

Haemoglobinuric Malaria

Severe Plasmodium Falciparum Malaria

Malarial Haemoglobinuria

Malarial Haematuria

Falciparum Malaria [Malignant Tertian]

Malaria Tropica

Malarial Shock

Chagres Virus Disease

Malignant Malaria

Mtm - [Malignant Tertian Malaria]

Tm -[Malignant Tertian Malaria]

Panama Fever

St - [Subtertian Malaria]

Malarial Quotidian

Benign Tertian Malaria

Tertian Ague

Vivax Fever

Plasmodium Vivax Malaria Nos

Btm - [Benign Tertian Malaria]

Bt - [Benign Tertian Malaria]

Vivax Malaria

Benign Tertian Vivax Malaria

Tertian Malaria

Quartan Malaria

Quartan Ague

Quartan Fever

Plasmodium Malariae Malaria Nos

Quartan Malarial

Malaria By Plasmodium Malariae

Malariae Malaria

Ovale Tertian Malaria

Plasmodium Ovale Fever

Malaria Fever By Plasmodium Ovale

Ovale Malaria

Malaria By Plasmodium Ovale

Malarial Ovale

Marsh Fever

Remittent Congestive Fever

Coastal Fever

Remittent Gastric Fever

Miasmatic Fever

Congestive Remittent Fever

Intermittent Fever

Jungle Fever

Paludism

Cameroon Fever

Ague

Corsican Fever

Intermittent Bilious Fever

Disease Due To Plasmodiidae

Malarial Fever

Plasmodiosis

Remittent Fever

Roman Fever

Malaria Fever Nos

Malaria Nos

Paludal Fever

Clinically Diagnosed Malaria

Clinically Diagnosed Malaria Without Parasitological Confirmation

Congestive Fever

Malarial Cachexia

Marsh Cachexia

Paludal Cachexia

Recurrent Malaria

Remittent Malaria

Lens Disease

Lens Diseases

Late-Onset Retinal Degeneration

LORD

Retinal Degeneration, Late-Onset, Autosomal Dominant

Autosomal Dominant Late-Onset Retinal Degeneration

Pigmentary Retinopathy

Retinal Degeneration, Late-Onset

Retinitis Pigmentosa

Methylmalonic Acidemia

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Refractive Error

Refractive Errors

Blood Platelet Disease

Platelet Disorder

Blood Platelet Disorders

Thrombocytopathy

Platelet Dysfunction

Platelet Disorders

Qualitative Platelet Deficiency

Cardiomyopathy, Dilated, 1l

Dilated Cardiomyopathy 1l

CMD1L

Cardiomyopathy, Dilated 1l

Cardiomyopathy, Dilated, Type 1l

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Complement Component 2 Deficiency

C2D

C2 Deficiency

Complement 2 Deficiency

Complement Component-2

Exudative Vitreoretinopathy 1

Retinopathy Of Prematurity

Retrolental Fibroplasia

EVR1

Criswick-Schepens Syndrome

Rop

Exudative Vitreoretinopathy, Familial, Autosomal Dominant

Fevr, Autosomal Dominant

Premature Retinopathy

Vitreoretinopathy, Exudative 1

Autosomal Dominant Familial Exudative Vitreoretinopathy

Fevr

Vitreoretinopathy, Exudative, Type 1

Retinopathy Of Prematurity Nos

Rlf- [Retrolental Fibroplasia]

Rop - [Retinopathy Of Prematurity]

Terry Syndrome

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

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
Rattus norvegicus CFH RGD RGD:620428
Mus musculus CFH MGD MGI:88385
Others CFH NCBI