CST3 - cystatin C Gene

Homo sapiens

Also known as ARMD11; HEL-S-2

Gene ID: 1471 | Gene type: protein coding

About CST3

Cytogenetic location: 20p11.21 Genomic coordinates (GRCh38): 20:23,626,706-23,637,955 (from NCBI)

This gene has 3 transcripts (splice variants), 282 orthologues, 11 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 148.6), salivary gland (RPKM 118.0) and 25 other tissues.

Summary

The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine Protease Inhibitors, while Others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]

CST3 Products(2)

mRNA	Protein	Name
NM_000099.4	NP_000090.1	cystatin-C precursor
NM_001288614.2	NP_001275543.1	cystatin-C precursor

CST3 Protein Structure

Cystatin

0
100
146 a.a.

Protein Preferred Names

Protein Names

cystatin-C

bA218C14.4 (cystatin C)

Recombinant CST3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7865	Cystatin C/CST3 Protein, Human (HEK293, His)	P01034 (S27-A146)	≥95%
HY-P72688	Cystatin C/CST3 Protein, Human (HEK293)	P01034 (S27-A146)	≥95%
HY-P7865A	Cystatin C/CST3 Protein, Human (HEK293, C-His)	P01034 (S27-A146)	≥95%

Related Diseases

Diseases

Alias

Cerebral Amyloid Angiopathy, Cst3-Related

Cerebral Amyloid Angiopathy	Hereditary Cerebral Hemorrhage With Amyloidosis
Hchwa	Hereditary Cystatin C Amyloid Angiopathy
Cerebral Amyloid Angiopathy, Familial	Amyloidosis, Cerebroarterial, Icelandic Type
Amyloidosis Vi	Cerebral Hemorrhage, Hereditary, With Amyloidosis
Cst3-Related Cerebral Amyloid Angiopathy	Cerebral Hemorrhage, Hereditary, With Amyloidosis, Icelandic Variant
Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Variant	Caa, Familial
Cerebral Amyloid Angiopathy, Genetic	Acys Amyloidosis
Cst3-Related Amyloidosis	Cystatin Amyloidosis
Hchwa, Icelandic Type	Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Type
Amyloidosis 6	AMYL6
Acys	Caa
Cerebral Amyloid Angiopathy Cst3-Related	Cerebroarterial Amyloidosis Icelandic Type
Cystatin C Amyloidosis	Hccaa
Hchwai	Hchwa-I
Hereditary Cerebral Hemorrhage With Amyloidosis Icelandic Type	Cerebral Amyloid Angiopathy Familial
Angiopathy, Amyloid, Cerebral, Cst3-Related	Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
Familial Cerebral Amyloid Angiopathy	Cerebral Amyloid Angiopathy, Hereditary

Macular Degeneration, Age-Related, 11

ARMD11	Age Related Macular Degeneration 11
Macular Degeneration, Age-Related, Type 11	Age-Related Macular Degeneration Type 11

Amyloidosis

Amyloid Disease	Amyloid
Amyloid Degeneration	Amyloidosis Nos
Amyloid Deposition	Amyloid Infiltration
Idiopathic Amyloidosis	Hyaloid Degeneration
Lardaceous Degeneration

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

Creutzfeldt-Jakob Disease

Variant Creutzfeldt-Jakob Disease	CJD
Bovine Spongiform Encephalopathy	Vcjd
Inherited Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease, Familial
Creutzfeldt Jakob Disease	Creutzfeldt-Jacob Disease
Creutzfeldt Jacob Disease	Sporadic Creutzfeldt-Jakob Disease
Encephalopathy, Bovine Spongiform	Creutzfeldt-Jakob Disease, Variant, Resistance To
Creutzfeldt-Jakob Disease, Variant	Creutzfeldt Jacob Syndrome
Jakob-Creutzfeldt Disease	Subacute Spongiform Encephalopathy
Transmissible Virus Dementia	New Variant Of Cjd
Nv-Cjd	Variant Cjd
Variant Creutzfeldt-Jacob Disease	Sporadic Cjd
Inherited Cjd	Acquired Creutzfeldt-Jakob Disease
Variant Mcj	Encephalopathy Bovine Spongiform
Familial Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Syndrome
New Variant Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease, Sporadic
Acquired Cjd	Scjd - [Sporadic Creutzfeldt-Jakob Disease]
Idiopathic Creutzfeldt-Jakob Disease	Creutzfeld-Jakob Disease Nos
Vcjd - [Variant Creutzfeldt-Jakob Disease]

Hemorrhage, Intracerebral

Intracerebral Hemorrhage	Hemorrhagic Stroke
ICH	Hemorrhage, Intracerebral, Susceptibility To
Stroke, Hemorrhagic	Stroke, Hemorrhagic, Susceptibility To
Brain Hemorrhage

Hepatorenal Syndrome

Hepato-Renal Syndrome	Hepatorenal Failure
Hrf - [Hepatorenal Failure]	Hepatorenal Degeneration
Hepatic Renal Syndrome	Hepatic Renal Failure
Renal Hepatic Failure	Urohepatic Syndrome

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

Orthostatic Proteinuria

Postural Albuminuria

Vascular Disease

Vascular Diseases	Aneurysm
Spinal Cord Ischemia	Vascular Anomaly
Spinal Cord Vascular Diseases	Vascular Tissue Disease

Vascular Dementia

Dementia, Vascular	Multi Infarct Dementia
Multifocal Dementia	Dementia Vascular
Vascular Dementia, Susceptibility To	Dementia, Multi-Infarct
Multi-Infarct Dementia

Hyperhomocysteinemia

Gastroschisis

Laparoschisis	Congenital Fissure Of The Abdominal Cavity
Abdominal Wall Defect	Abdominal Hernia
Hernia, Abdominal	Omphalocele
Abnormality Of The Abdominal Wall	Congenital Omphalocele
Coeloschisis	Coelioschisis
Celoschisis	Congenital Para-Umbilical Hernia

Visceral Leishmaniasis

Kala-Azar	Leishmaniasis, Visceral
Infection By Visceral Leishmaniasis	Leishmaniasis Visceral
Sahib Disease	Ponos
Burdwan Fever	Mard El Bicha
Sirkari Disease	Indian Visceral Leishmaniasis
Dumdum Fever	Visceral Leishmaniasis Due To Leishmania Donovani

Cerebral Amyloid Angiopathy, App-Related

Hchwad	Amyloidosis, Cerebroarterial, App-Related
Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant	Cerebral Amyloid Angiopathy, App-Related, Dutch Variant
Cerebral Amyloid Angiopathy, App-Related, Iowa Variant	Cerebral Amyloid Angiopathy, App-Related, Italian Variant
Cerebral Amyloid Angiopathy, App-Related, Flemish Variant	Cerebral Amyloid Angiopathy, App-Related, Arctic Variant
Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants	App-Related Cerebral Amyloid Angiopathy
Abetaa21g Amyloidosis	Abeta Amyloidosis, Italian Type
Abeta Amyloidosis, Arctic Type	Abeta Amyloidosis, Iowa Type
Abeta Amyloidosis, Dutch Type	Hchwa-D
Abeta Amyloidosis, Flemish Type	Abetaa21g-Related Amyloidosis
Hchwa, Flemish Type	Hereditary Cerebral Hemorrhage With Amyloidosis, Flemish Type
Abetae22k Amyloidosis	Hchwa, Italian Type
Hereditary Cerebral Hemorrhage With Amyloidosis, Italian Type	Abetae22g Amyloidosis
Hchwa, Arctic Type	Hereditary Cerebral Hemorrhage With Amyloidosis, Arctic Type
Abetad23n Amyloidosis	Hchwa, Iowa Type
Hereditary Cerebral Hemorrhage With Amyloidosis, Iowa Type	Abetal34v Amyloidosis
Abeta Amyloidosis, Piedmont Type	Abetal34v-Related Amyloidosis
Hchwa, Piedmont Type	Hereditary Cerebral Hemorrhage With Amyloidosis, Piedmont Type
Abetae22q Amyloidosis	Hchwa, Dutch Type
Hereditary Cerebral Hemorrhage With Amyloidosis, Dutch Type	CAA-APP
Amyloidosis Cerebroarterial App-Related	Amyloidosis Hereditary With Cerebral Hemorrhage Dutch Variant
Cerebral Amyloid Angiopathy App-Related Arctic Variant	Cerebral Amyloid Angiopathy App-Related Dutch Variant
Cerebral Amyloid Angiopathy App-Related Flemish Variant	Cerebral Amyloid Angiopathy App-Related Iowa Variant
Cerebral Amyloid Angiopathy App-Related Italian Variant	Familial Occipital Calcifications With Hemorrhagic Strokes Leukoencephalopathy Arterial Dysplasia Dementia
Fochs-Ladd	Hereditary Cerebral Amyloid Angiopathy Dutch Type
Hereditary Cerebral Hemorrhage With Amyloidosis Dutch Type	Hereditary Cerebral Hemorrhage With Amyloidosis Italian Type
Cerebral Hemorrhage With Amyloidosis, Hereditary, Dutch Type

Fabry Disease

Alpha-Galactosidase A Deficiency	Anderson-Fabry Disease
Angiokeratoma Corporis Diffusum	Ceramide Trihexosidase Deficiency
Fabry Disease, Cardiac Variant	Fabry'S Disease
Hereditary Dystopic Lipidosis	Gla Deficiency
FD	Alpha Galactosidase Deficiency
Deficiency Of Melibiase	Angiokeratoma, Diffuse
Angiokeratoma Diffuse	Diffuse Angiokeratoma

Inferolateral Myocardial Infarct

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Urethral False Passage

Benign Meningioma

Meningioma, Benign

Renal Artery Disease

Renal Vascular Disease	Vascular Disorder Of Kidney
Renal Vascular Disorder

Aortic Aneurysm, Familial Abdominal, 1

Abdominal Aortic Aneurysm	Aortic Aneurysm, Familial Abdominal 1
Aneurysm, Abdominal Aortic	AAA
Aortic Aneurysm, Abdominal	AAA1
Aortic Aneurysm, Familial Abdominal	Aortic Aneurysm Abdominal
Abdominal Aortic Aneurysms	Abdominal Aortic Aneurysm Without Mention Of Perforation Or Rupture
Abdomen Aneurysm	Abdominal Aorta Aneurysm
Aneurysm Of Abdominal Aorta	Aortic Abdomen Aneurysm
Aaa - [Abdominal Aortic Aneurysm]	Abdominal Aneurysm
Abdominal Aorta Aneurysm Rupture	Abdominal Aorta Aneurysm Ruptured
Abdominal Aortic Aneurysm Which Has Ruptured	Ruptured Aaa
Abdomen Aorta Aneurysm Ruptured	Abdomen Aorta Rupture
Abdomen Aortic Aneurysm Rupture	Abdomen Aneurysm Rupture
Abdomen Aortic Aneurysm Ruptured	Abdomen Aortic Rupture
Abdominal Aorta Rupture	Abdominal Aortic Rupture
Rupture Abdomen Aorta Aneurysm	Rupture Abdominal Aortic Aneurysm
Ruptured Abdomen Aneurysm	Ruptured Abdomen Aorta
Ruptured Abdomen Aortic	Ruptured Abdominal Aneurysm
Ruptured Abdominal Aorta	Ruptured Abdominal Aortic
Ruptured Aorta Abdominalis Aneurysm	False Abdomen Aorta Aneurysm Ruptured
False Abdominal Aortic Aneurysm Ruptured	False Abdominal Aorta Aneurysm Ruptured
False Abdomen Aortic Aneurysm Ruptured

Acute Kidney Tubular Necrosis

Acute Tubular Necrosis	Acute Renal Failure With Tubular Necrosis
Acute Tubule Necrosis	Acute Renal Failure With Lesion Of Tubular Necrosis
Atn - Acute Tubular Necrosis	Tubular Necrosis Acute
Kidney Tubular Necrosis, Acute	Acute Renal Tubular Necrosis
Acute Tubular Nephrosis	Ischaemic Acute Tubular Necrosis
Ischaemic Tubular Necrosis	Kidney Tubular Necrosis
Lower Nephron Nephrosis	Necrotising Renal Oedema
Renal Tubular Necrosis	Toxic Tubular Necrosis
Tubular Kidney Necrosis	Tubular Necrosis Nos
Tubular Nephrosis

Pelvic Inflammatory Disease

Pid

Cardiovascular System Disease

Abnormality Of The Cardiovascular System	Cardiovascular Disease
Disease Of Subdivision Of Hemolymphoid System	Disorder Of Cardiovascular System
Cardiovascular Diseases

Acute Myocardial Infarction

Cardiac Attack

Heart Attack

Dementia

Dementias	Presenile Dementia
Alzheimer Type Dementia	Alzheimer Sclerosis
Alzheimer Disease Dementia	Alzheimer Dementia
Primary Degenerative Alzheimer Type Dementia	End Stage Alzheimer'S Dementia
Alzheimer'S Type Atypical Dementia	Alzheimer Type Presenile Dementia
Early Onset Alzheimer Dementia	Dementia In Alzheimer Disease Type 2
Dementia In Alzheimer Disease With Early Onset	Early Onset Alzheimer Type Dementia, Uncomplicated
Primary Degenerative Alzheimer Type Dementia, Early Onset	Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated
Alzheimer Disease Dementia With Early Onset	Presenile Sclerosis
Presenile Brain Sclerosis	Presenile Alzheimer Brain Sclerosis
Late Onset Alzheimer Dementia	Dementia In Alzheimer Disease Type 1
Dementia In Alzheimer Disease With Late Onset	Primary Degenerative Alzheimer Type Dementia, Late Onset
Sdat - [Senile Dementia, Alzheimer Type]	Alzheimer Disease Dementia With Late Onset
Late Onset Alzheimer Brain Sclerosis	Senile Alzheimer Brain Disease
Senile Alzheimer Brain Sclerosis	Senile Primary Degenerative Alzheimer Type Dementia
Senile Dementia Of The Alzheimer Type	Arteriosclerotic Dementia
Strategic-Infarct Dementia	Post Stroke Dementia
Vascular Cognitive Impairment	Vascular Dementia
Dementia Of The Lewy Body Type	Dementia With Lewy Bodies
Sdlt - [Senile Dementia Of The Lewy Body Type]	Senile Dementia Of The Lewy Body Type
Alcohol-Related Dementia	Alcoholic Dementia Nos
Alcohol-Induced Dementia	Alcoholic Brain Syndrome
Chronic Alcoholic Brain Syndrome	Alcohol Dementia
Late Onset Alcoholic Psychosis	Residual And Late-Onset Alcohol-Induced Psychotic Disorder
Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder	Late-Onset Psychoactive Substance-Induced Psychotic Disorder
Inhalant Dementia	Volatile Solvents Dementia
Dementia In Paralysis Agitans	Pdd - [Parkinson Disease Dementia]
Dementia Syndrome Of Parkinson Disease	Dementia In Parkinson Disease
Parkinson Related Dementia	Dementia In Huntington Chorea
Hiv - [Human Immunodeficiency Virus] Dementia	Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex
Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex	Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex
Aids Related Dementia	Dementia Due To Niacin Deficiency

Arteriosclerosis

Arteriosclerotic Vascular Disease

Amyloidosis, Familial Visceral

Ostertag Type Amyloidosis	German Type Amyloidosis
Familial Renal Amyloidosis	Amyloidosis Viii
Amyloidosis, 3 Or More Types	Familial Visceral Amyloidosis
Familial Amyloid Nephropathy	Hereditary Amyloid Nephropathy
Amyloidosis, Familial Renal	Amyloidosis, Systemic Nonneuropathic
Amyloidosis Familial Visceral	Amyloidosis 8
Amyloidosis, Ostertag Type	Hereditary Amyloidosis With Primary Renal Involvement
Hereditary Renal Amyloidosis	Renal Amyloidosis
Amyloidosis, Renal	Systemic Nonneuropathic Amyloidosis
Amyloidosis Familial Renal	Amyloidosis Systemic Nonneuropathic
Hereditary Amyloidosis With Primary Renal Involement	AMYL8
Systemic Non-Neuropathic Amyloidosis	Amyloid Nephropathy

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

Pre-Eclampsia

Preeclampsia	Gestational Hypertension
Hypertension Induced By Pregnancy	Pre-Eclamptic Toxaemia
Pregnancy Associated Hypertension	Proteinuric Hypertension Of Pregnancy
Hypertension, Pregnancy-Induced, Susceptibility To	Preeclampsia/Eclampsia
Pregnancy Toxemia	Toxaemia Of Pregnancy
Gestational Proteinuric Hypertension	Pregnancy-Induced Hypertension
Toxemia Of Pregnancy	Preeclampsia, Susceptibility To
Transient Hypertension Of Pregnancy	Gestational [Pregnancy-Induced] Hypertension Without Significant Proteinuria
Gestational Hypertension Nos	Mild Proteinuric Hypertension Of Pregnancy
Pih - [Pregnancy-Induced Hypertension]	Pregnancy-Induced Hypertension Nos
Gestational [Pregnancy-Induced] Hypertension With Significant Proteinuria	Pe - [Pre-Eclampsia]
Pre-Eclampsia Nos	Pre-Eclamptic Nos
Pregnancy Pre-Eclampsia	Puerperal Pre-Eclampsia
Pre-Eclampsia Toxaemia	Toxaemia In Pregnancy
Pet - [Pre-Eclamptic Toxaemia]	Maternal Toxaemia

Homocystinuria

Cystathionine Beta Synthase Deficiency	Homocysteinemia
Cbs Deficiency	Cystathionine Synthase Deficiency
Cystathionine Beta-Synthase Deficiency Disease

Aortic Aneurysm

Aortic Rupture	Thoracoabdominal Aortic Aneurysm, Ruptured
Ruptured Aortic Aneurysm	Aortic Aneurysms
Aortic Aneurysm Without Mention Of Rupture Nos	Ruptured Abdominal Aortic Aneurysm
Aortic Aneurysm, Ruptured	Ruptured Thoracic Aortic Aneurysm

Placental Insufficiency

Uteroplacental Vascular Insufficiency

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

Renal Artery Atheroma

Atherosclerosis Of Renal Artery	Renal Atherosclerosis
Atherosclerotic Renal Disease	Ras - [Renal Artery Stenosis]
Renal Arterial Arteriosclerosis	Renal Arterial Arteriosclerotic Disease
Renal Arterial Stricture	Renal Artery Stricture
Renal Artery Stenosis Of Unknown Cause	Renal Artery Stenosis Due To Atherosclerosis
Renal Artery Stenosis	Renal Artery Arteriosclerotic Disease
Renal Artery Arteriosclerosis

Danubian Endemic Familial Nephropathy

Balkan Nephropathy	Balkan Endemic Nephropathy
Nephropathia Epidemica	Defn
Ben	Aristolochic Acid Nephropathy
Aan	Endemic Nephropathy Balkan
Balkan Nephritis

Amyloidosis, Finnish Type

Finnish Type Amyloidosis	Meretoja Syndrome
Amyloidosis V	Amyloidosis, Meretoja Type
Amyloid Cranial Neuropathy With Lattice Corneal Dystrophy	Lattice Corneal Dystrophy Type Ii
Familial Amyloidosis, Finnish Type	Familial Amyloid Polyneuropathy Type Iv
Amyloidosis Due To Mutant Gelsolin	Agel Amyloidosis
Gelsolin Amyloidosis	Hereditary Gelsolin Amyloidosis
Lattice Corneal Dystrophy Type Ii Finnish	Gelsolin-Related Amyloidosis
Kymenlaakso Syndrome	Lattice Corneal Dystrophy, Gelsolin Type
Hereditary Amyloidosis, Finnish Type	Lattice Corneal Dystrophy Type 2
Amyloidosis 5	AMYL5
Agel	Familial Amyloidosis Finnish Type
Meretoja Type Amyloidosis	Type Iv Familial Amyloid Polyneuropathy
Familial Amyloid Polyneuropathy, Type V	Familial Amyloid Polyneuropathy, Type Iv

Anuria

Suppression Of Urinary Secretion

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

Cerebrovascular Disease

Cerebrovascular Disorder	Cerebrovascular Accident
Cerebrovascular Disorders	Cva
Stroke

Bone Disease

Bone Diseases	Skeletal Disease
Skeletal Disorder	Disorder Of Skeletal System

Beta-Thalassemia

Beta Thalassemia	Cooley'S Anemia
Mediterranean Anemia	Beta Thalassemia Intermedia
Erythroblastic Anemia	Thalassemia, Hispanic Gamma-Delta-Beta
Thalassemia Major	Thalassemia Minor
Beta-Plus-Thalassemia	Thalassemia, Beta
Beta Thalassemia Major	Beta Thalassemia Minor
Thalassemias, Beta-	Microcytemia, Beta Type
Thalassemia, Beta Type	B-THAL
Mediterranean Anaemia	Beta Thalassaemia Syndrome
Mediterranean Disease	Beta Thalassaemia Disease

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Diabetes Mellitus

Diabetes

Type 2 Diabetes Mellitus

Insulin Resistance	NIDDM
Type 2 Diabetes	Diabetes Mellitus, Non-Insulin-Dependent
T2D	Noninsulin-Dependent Diabetes Mellitus
Diabetes Mellitus, Type Ii	Maturity-Onset Diabetes
Insulin Resistance, Severe, Digenic	Diabetes Mellitus, Type 2
Diabetes Mellitus, Noninsulin-Dependent	Diabetes Mellitus, Noninsulin-Dependent, Association With
Diabetes Mellitus, Noninsulin-Dependent, Late Onset	Hypertension, Insulin Resistance-Related, Susceptibility To
Insulin Resistance, Susceptibility To	Non-Insulin-Dependent Diabetes Mellitus
Type Ii Diabetes Mellitus	Adult-Onset Diabetes Mellitus
Maturity-Onset Diabetes Mellitus	Diabetes Mellitus Type 2
Type Ii Diabetes	Type 2 Diabetes Mellitus, Susceptibility To
Diabetes, Type 2	Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 2, Susceptibility To
Diabetes Mellitus, Noninsulin-Dependent, 2	Diabetes Mellitus, Type Ii, Susceptibility To
Hypertension, Insulin Resistance-Related	Adult-Onset Diabetes
Aodm	Diabetes Mellitus, Adult-Onset
Diabetes Mellitus Type Ii	Diabetes Mellitus Type 2, Susceptibility To
Diabetes, Type Ii, Susceptibility To	Diabetes Type 2
Diabetes Mellitus	Adult Onset Diabetes
Maturity Onset Diabetes	Nonketotic Diabetes
Non-Insulin Dependent Diabetes Mellitus	T2dm - [Type 2 Diabetes Mellitus]
Niddm - [Non Insulin Dependent Diabetes Mellitus]	Dm2
Dm Type Ii	Diabetic Type 2
Insulin Requiring Type 2 Diabetes	Noninsulin Dependent Diabetes
Non-Insulin-Dependent Diabetes Mellitus Without Complications	Diabetes Due To Insulin Secretory Defect
Diabetes Mellitus Due To Insulin Secretory Defect	Non-Insulin-Dependent Diabetes Of The Young
Senile Diabetes	Nonketotic Hyperglycaemia
Stable Diabetes

Kidney Papillary Necrosis

Necrotizing Renal Papillitis	Papillary Necrosis
Renal Papillitis Necrotizing

Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Dementia, Familial British	Fbd
Presenile Dementia With Spastic Ataxia	Familial British Dementia
Abri Amyloidosis	Cerebral Amyloid Angiopathy, British Type
Itm2b-Related Cerebral Amyloid Angiopathy 1	Familial Dementia, British Type
Cerebral Amyloid Angiopathy, Itm2b-Related 1	CAA-ITM2B1
Cerebral Amyloid Angiopathy British Type	Dementia, Familial, British

Interstitial Nephritis

Nephritis, Interstitial	Renal Tubulo-Interstitial Disease
Nephritis Interstitial	Nephritis, Tubulointerstitial

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

Hypothyroidism

Thyroid Diseases	Thyroid Disease
Thyroid Deficiency	Thyroid Insufficiency
Dysfunction Thyroid	Thyroid Dysfunction

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Peripheral Artery Disease

Peripheral Arterial Disease

Peripheral Arterial Diseases

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

Neurogenic Bladder

Neurogenic Dysfunction Of The Urinary Bladder	Neurogenic Urinary Bladder Disorder
Neuropathic Bladder	Bladder Neurogenic
Urinary Bladder, Neurogenic	Neurogenic Urinary Bladder

Renal Hypertension

Hypertension Renal

Hypertension, Renal

Urinary Tract Obstruction

Obstructive Uropathy	Urinary Obstruction
Urologic Diseases

Viral Laryngitis

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease	Coronary Artery Anomaly
Coronary Artery Disease, Susceptibility To	Myocardial Ischemia
Congenital Anomaly Of Coronary Artery	Coronary Arteriosclerosis
Coronary Disease	Coronary Heart Disease
Coronary Artery Disorder	LPAQTL
Lpa Deficiency, Congenital	Coronary Artery Abnormality
Coronary Artery Anomaly, Congenital	Chd
Coronary Syndrome	Congenital Malformations Of Coronary Vessels
Malformation Of Coronary Vessels	Congenital Coronary Artery Anomaly
Congenital Coronary Artery Deformity	Congenital Coronary Artery Disorder
Abnormal Coronary Artery	Congenital Coronary Artery Malposition
Congenital Coronary Disease	Congenital Anomaly Of Coronary Arteries

Stroke, Ischemic

Cerebral Infarction	Stroke
Ischemic Stroke	Cerebrovascular Accident
Cerebral Infarction, Susceptibility To	Stroke, Ischemic, Susceptibility To
Cerebral Infarct	Ischemic Stroke, Susceptibility To
Stroke, Susceptibility To	Cva - Cerebral Infarction
ISCHSTR	Ischemic Cerebrovascular Accident

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans

KFSD

Osteoporosis

Postmenopausal Osteoporosis	Osteoporosis, Postmenopausal
Bone Mineral Density Quantitative Trait Locus	Bmnd
Osteoporosis, Involutional	Osteoporosis, Susceptibility To
Osteoporosis, Postmenopausal, Susceptibility	Bone Mineral Density Variation Qtl, Osteoporosis
OSTEOP	Involutional Osteoporosis
Senile Osteoporosis	Osteoporosis Postmenopausal
Bone Mineral Density, Quantitative Trait Locus	Osteoporosis, Senile
Idiopathic Osteoporosis	Bone Rarefaction Nos
Type 1 Osteoporosis

Vesicoureteral Reflux

Vesico-Ureteral Reflux

Beta-Thalassemia Major

Cooley'S Anemia	Cooley Anemia
Mediterranean Anemia

Primary Cutaneous Amyloidosis

Plca	Primary Localized Cutaneous Amyloidosis
Familial Primary Localized Cutaneous Amyloidosis	Amyloidosis Ix
Lichen Amyloidosis Familial	Amyloidosis, Primary Cutaneous
Pca	Amyloidosis 9
Amyloidosis Familial Cutaneous Lichen	Fplca
Familial Lichen Amyloidosis

Fanconi Syndrome

Infantile Nephropathic Cystinosis	Adult Fanconi Syndrome
Congenital Fanconi Syndrome	De Toni-Fanconi Syndrome
Fanconi-De Toni Syndrome	Lignac-Fanconi Syndrome
Fanconi Renotubular Syndrome	Primary Fanconi Renotubular Syndrome
De Toni-Debre-Fanconi Syndrome	Adult Fanconi Anemia
Detoni Fanconi Syndrome	Fanconi-De-Toni Syndrome
Primary Fanconi Syndrome	Detoni-Debre-Fanconi Syndrome
Primary Fanconi Renal Syndrome	Fanconi Anemia
Cystinosis, Infantile Nephropathic	Fanconi-Bickel Syndrome
Renal Fanconi Syndrome	Lowe-Bickel Syndrome

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Cystic Kidney Disease

Renal Cyst	Simple Renal Cyst
Kidney Cysts	Kidney Diseases, Cystic
Renal Cysts	Kidney Cyst
Cystic Kidney	Congenital Cystic Kidney Disease
Cystic Kidney Diseases	Bosniak 1 Cyst

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type	Adpkd
Polycystic Kidney Diseases	Polycystic Kidney, Autosomal Dominant
Congenital Biliary Ectasias	Polycystic Kidney And Hepatic Disease 1
Polycystic Kidney Disease, Autosomal Dominant	Kidney, Polycystic, Disease, Autosomal Dominant
Adult Polycystic Kidney Disease	Polycystic Kidney, Adult Type
Apckd - [Autosomal Polycystic Kidney 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

Polycystic Kidney Disease

Polycystic Kidney Diseases	Pkd
Polycystic Renal Disease	Kidney Disease, Polycystic
Polycystic Kidney, Autosomal Dominant

Meningioma, Familial

Meningioma	Familial Meningioma
Meningioma, Familial, Susceptibility To	Meningeal Neoplasm
Meningeal Neoplasms	Meningiomas
Meningioma, Nf2-Related, Somatic	Meningioma, Sis-Related
Meningothelial Cell Tumor	Neoplasm Of The Meninges
Primary Meningeal Tumor	Familial Multiple Meningioma
MNGMA	Meningioma, Benign, No Icd-O Subtype
Intracranial Meningioma	Meningothelial Cell Neoplasm
Supratentorial Meningioma	Primary Neoplasm Of Spinal Meninges
Benign Intracranial Meningioma	Benign Meningioma
Meningeal Tumours	Meningeal Sarcoma Of Unspecified Site
Meningothelial Sarcoma Of Unspecified Site

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CST3	RGD	RGD:2432
Mus musculus	CST3	MGD	MGI:102519