CFH - complement factor H Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3075

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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)

CFH Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CFH P08603 PTX3 Homo sapiens P26022 19050261
Intra
CFH P08603 APOE Homo sapiens P02649
MST
26468283
Intra
CFH P08603 APOE Homo sapiens P02649 26468283
Intra
CFH P08603 APOE Homo sapiens P02649 26468283
Intra
CFH P08603 APOE Homo sapiens P02649 26468283
Intra
CFH P08603 CRP Homo sapiens P02741 17293598
Intra
CFH P08603 CRP Homo sapiens P02741
SPR
19680263
Intra
CFH P08603 CRP Homo sapiens P02741 19680263
Intra
CFH P08603 CRP Homo sapiens P02741 28533443
Intra
CFH P08603 CRP Homo sapiens P02741 17293598
Intra
CFH P08603 CRP Homo sapiens P02741
SPR
17293598
Intra
CFH P08603 CRP Homo sapiens P02741 17339482
Intra
CFH P08603 CRP Homo sapiens P02741 19084272
Cross
CFH P08603 fhbP Neisseria meningitidis serogroup B Q9JXV4 19225461
Cross
CFH P08603 fhbP Neisseria meningitidis serogroup B Q9JXV4
GMS
19225461
Cross
CFH P08603 fhbP Neisseria meningitidis serogroup B Q9JXV4 19225461
Cross
CFH P08603 fhbP Neisseria meningitidis serogroup B Q9JXV4
SPR
19225461
Intra
CFH P08603 P02741-PRO_0000023526 Homo sapiens P02741-PRO_0000023526 17244159
Intra
CFH P08603 P26022-PRO_0000023545 Homo sapiens P26022-PRO_0000023545 22786770
Cross
CFH P08603 ennX Streptococcus pyogenes serotype M49 P16946 18627465
Intra
CFH P08603 P01024-PRO_0000005908 Homo sapiens P01024-PRO_0000005908
SPR
16612335
Intra
CFH P08603 P01024-PRO_0000005908 Homo sapiens P01024-PRO_0000005908 28671664
Intra
CFH P08603 P01024-PRO_0000005908 Homo sapiens P01024-PRO_0000005908 16612335
Cross
CFH P08603 FMOD Bos taurus P13605 17293598
Cross
CFH P08603 FMOD Bos taurus P13605
SPR
17293598
Cross
CFH P08603 FMOD Bos taurus P13605 17293598
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CFH Proteins

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

CFH Antibodies

Cat. No. Product Name Application Reactivity
HY-P83616 Factor H Antibody (YA3361) WB, ICC/IF Human

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