1. Gene
  2. CFHR2 - complement factor H related 2 Gene

CFHR2 - complement factor H related 2 Gene

中文名称:补体因子 H 相关 2

种属: Homo sapiens

同用名: FHR2; HFL3; CFHL2

基因 ID: 3080 | 基因类型: protein coding

关于 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).

功能概要

该基因属于补体因子 H 相关基因 (CFHR) 家族,与补体因子 H 基因聚集在 1 号染色体上,参与补体调控。 CFHR 基因突变与致密物沉积病和非典型溶血性尿毒症综合征有关。已发现该基因的可变剪接转录物变体。[RefSeq 提供,2015 年 8 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
23487775 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23487775 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cytolysis by host of symbiont cells IMP
IMP: 通过突变表型推断
23487775 GOA
involved in negative regulation of protein binding IMP
IMP: 通过突变表型推断
23487775 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of protein-containing complex IDA
IDA: 通过直接分析推断
23487775 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CFHR2 蛋白结构

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.
蛋白主名 其他名称

complement factor H-related protein 2

DDESK59

重组 CFHR2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70031 CFHR2 Protein, Human (HEK293, His) P36980-1 (E19-K270) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus CFHR2 MGD MGI:2138169