1. Gene
  2. CAV1 - caveolin 1 Gene

CAV1 - caveolin 1 Gene

Homo sapiens

Also known as CGL3; PPH3; BSCL3; LCCNS; VIP21; MSTP085

Gene ID: 857 | Gene type: protein coding

About CAV1

Cytogenetic location: 7q31.2 Genomic coordinates (GRCh38): 7:116,525,009-116,561,185 (from NCBI)

This gene has 9 transcripts (splice variants), 207 orthologues, 2 paralogues and is associated with 8 phenotypes. Biased expression in fat (RPKM 322.1), lung (RPKM 308.8) and 13 other tissues.

Summary

The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links Integrin subunits to the tyrosine kinase Fyn, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]

CAV1 Products(4)

mRNA Protein Name
NM_001172895.1 NP_001166366.1 caveolin-1 isoform beta
NM_001172896.2 NP_001166367.1 caveolin-1 isoform beta
NM_001172897.2 NP_001166368.1 caveolin-1 isoform beta
NM_001753.5 NP_001744.2 caveolin-1 isoform alpha
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables ATPase binding IPI
IPI: Inferred from physical interaction
24089527 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
20122998 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
25006397 GOA
enables inward rectifier potassium channel inhibitor activity IDA
IDA: Inferred from direct assay
18923542 GOA
enables nitric-oxide synthase binding IPI
IPI: Inferred from physical interaction
12852865 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10212252 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
25006397 GOA
enables protein-containing complex binding IPI
IPI: Inferred from physical interaction
24089527 GOA
enables signaling receptor binding IPI
IPI: Inferred from physical interaction
16890161 GOA
enables small GTPase binding IPI
IPI: Inferred from physical interaction
24625804 GOA
enables transmembrane transporter binding IPI
IPI: Inferred from physical interaction
18923542 GOA
Biological Process GO Annotation Evidence Reference Source
involved in T cell costimulation IDA
IDA: Inferred from direct assay
17287217 GOA
involved in apoptotic signaling pathway IMP
IMP: Inferred from mutant phenotype
21382479 GOA
involved in canonical Wnt signaling pathway IDA
IDA: Inferred from direct assay
16890161 GOA
involved in caveola assembly IGI
IGI: Inferred from genetic interaction
25006397 GOA
involved in caveola assembly IMP
IMP: Inferred from mutant phenotype
12633858 GOA
involved in caveolin-mediated endocytosis IDA
IDA: Inferred from direct assay
19931615 GOA
involved in cellular response to exogenous dsRNA IMP
IMP: Inferred from mutant phenotype
25204797 GOA
involved in cellular response to hyperoxia IMP
IMP: Inferred from mutant phenotype
21382479 GOA
involved in cellular response to misfolded protein IMP
IMP: Inferred from mutant phenotype
24089527 GOA
involved in cellular response to starvation IEP
IEP: Inferred from expression pattern
15657086 GOA
involved in negative regulation of BMP signaling pathway IDA
IDA: Inferred from direct assay
15657086 GOA
involved in negative regulation of anoikis IMP
IMP: Inferred from mutant phenotype
22277751 GOA
involved in negative regulation of inward rectifier potassium channel activity IMP
IMP: Inferred from mutant phenotype
18923542 GOA
involved in negative regulation of peptidyl-serine phosphorylation IDA
IDA: Inferred from direct assay
18081315 GOA
involved in negative regulation of peptidyl-tyrosine autophosphorylation IMP
IMP: Inferred from mutant phenotype
25006397 GOA
involved in negative regulation of pinocytosis IMP
IMP: Inferred from mutant phenotype
23583380 GOA
involved in negative regulation of potassium ion transmembrane transport IMP
IMP: Inferred from mutant phenotype
18923542 GOA
involved in negative regulation of protein tyrosine kinase activity IMP
IMP: Inferred from mutant phenotype
25006397 GOA
involved in negative regulation of protein ubiquitination IMP
IMP: Inferred from mutant phenotype
22277751 GOA
involved in positive regulation of ERAD pathway IMP
IMP: Inferred from mutant phenotype
24089527 GOA
involved in positive regulation of canonical NF-kappaB signal transduction IMP
IMP: Inferred from mutant phenotype
23319823 GOA
involved in positive regulation of cell adhesion molecule production IMP
IMP: Inferred from mutant phenotype
25204797 GOA
involved in positive regulation of cell migration IMP
IMP: Inferred from mutant phenotype
21109942 GOA
involved in positive regulation of cholesterol efflux IDA
IDA: Inferred from direct assay
24576892 GOA
involved in positive regulation of extrinsic apoptotic signaling pathway IMP
IMP: Inferred from mutant phenotype
21382479 GOA
involved in positive regulation of intrinsic apoptotic signaling pathway IMP
IMP: Inferred from mutant phenotype
21382479 GOA
involved in positive regulation of peptidyl-serine phosphorylation IDA
IDA: Inferred from direct assay
18081315 GOA
involved in positive regulation of protein ubiquitination IMP
IMP: Inferred from mutant phenotype
24089527 GOA
involved in positive regulation of toll-like receptor 3 signaling pathway IMP
IMP: Inferred from mutant phenotype
25204797 GOA
involved in receptor internalization IDA
IDA: Inferred from direct assay
25893292 GOA
involved in receptor internalization IMP
IMP: Inferred from mutant phenotype
16890161 GOA
involved in receptor-mediated endocytosis of virus by host cell IGI
IGI: Inferred from genetic interaction
21047970 GOA
involved in regulation of blood coagulation IMP
IMP: Inferred from mutant phenotype
17848177 GOA
involved in regulation of cytosolic calcium ion concentration IDA
IDA: Inferred from direct assay
19052258 GOA
involved in regulation of entry of bacterium into host cell IDA
IDA: Inferred from direct assay
24625804 GOA
involved in regulation of membrane repolarization during action potential IMP
IMP: Inferred from mutant phenotype
18923542 GOA
involved in regulation of ruffle assembly IDA
IDA: Inferred from direct assay
24625804 GOA
involved in response to bacterium IDA
IDA: Inferred from direct assay
24625804 GOA
acts upstream of or within response to estrogen IDA
IDA: Inferred from direct assay
12388746 GOA
acts upstream of or within response to progesterone IDA
IDA: Inferred from direct assay
12388746 GOA
Cellular Component GO Annotation Evidence Reference Source
located in Golgi membrane IDA
IDA: Inferred from direct assay
11294831 GOA
located in apical plasma membrane IDA
IDA: Inferred from direct assay
16904002 GOA
located in basolateral plasma membrane IDA
IDA: Inferred from direct assay
16904002 GOA
located in caveola IDA
IDA: Inferred from direct assay
15219854 GOA
located in cytoplasmic vesicle IDA
IDA: Inferred from direct assay
19931615 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
11294831 GOA
located in endosome IDA
IDA: Inferred from direct assay
20682791 GOA
colocalizes with focal adhesion IDA
IDA: Inferred from direct assay
12091389 GOA
located in membrane IDA
IDA: Inferred from direct assay
24625804 GOA
located in membrane raft IDA
IDA: Inferred from direct assay
11294831 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
19931615 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
23262137 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
21822278 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

CAV1 Protein Structure

Caveolin

Caveolin: Caveolin (34 - 176)

  • 0
  • 100
  • 178 a.a.
Protein Preferred Names Protein Names

caveolin-1

caveolin 1, caveolae protein, 22kDa

Related Diseases

Diseases Alias
Lipodystrophy, Congenital Generalized, Type 3

Congenital Generalized Lipodystrophy Type 3

CGL3

Bscl3

Berardinelli-Seip Congenital Lipodystrophy Type 3

Berardinelli-Seip Congenital Lipodystrophy, Type 3

Lipodystrophy, Berardinelli-Seip Congenital, Type 3

Type 3 Berardinelli-Seip Congenital Lipodystrophy

Congenital Generalized Lipodystrophy 3

Pulmonary Hypertension, Primary, 3

PPH3

Hypertension, Pulmonary, Primary, Type 3

Lipodystrophy, Familial Partial, Type 7

Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome

FPLD7

Lccns

Partial Lipodystrophy, Congenital Cataracts, With Or Without Neurodegeneration Syndrome

Lipodystrophy, Familial Partial, 7

Lipodystrophy, Partial, With Congenital Cataracts And Neurodegeneration

Heritable Pulmonary Arterial Hypertension

Fpah

Familial Pulmonary Arterial Hypertension

Hpah

Hereditary Pulmonary Arterial Hypertension

Familial Primary Pulmonary Hypertension

Congenital Generalized Lipodystrophy

Berardinelli-Seip Congenital Lipodystrophy

Berardinelli-Seip Syndrome

Brunzell Syndrome

Bscl

Generalized Lipodystrophy

Lipodystrophy, Congenital Generalized

Seip Syndrome

Total Lipodystrophy

Cgl

Lipoatrophic Diabetes

Lipodystrophy, Generalized, Congenital

Familial Generalized Lipodystrophy

Congenital Generalized Lipodystrophy Type 2

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2

Diffuse Cutaneous Systemic Sclerosis

Diffuse Cutaneous Systemic Scleroderma

Progressive Cutaneous Systemic Scleroderma

Progressive Cutaneous Systemic Sclerosis

Dcssc

Diffuse Scleroderma

Limited Scleroderma

Limited Cutaneous Systemic Sclerosis

Limited Systemic Sclerosis

Systemic Sclerosis Sine Scleroderma

Crest Syndrome

Limited Cutaneous Systemic Scleroderma

Scleroderma, Limited

Systemic Sclerosis, Limited

Progressive Systemic Sclerosis Sine Scleroderma

Scleroderma, Sine

Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome

Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome

Berardinelli-Seip Congenital Lipodystrophy

Berardinelli-Seip Congenital Generalized Lipodystrophy

Familial Generalized Lipodystrophy

Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Hypertension, Pulmonary, Primary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]

Lung Pleomorphic Carcinoma
Cholera

Vibrio Cholerae Infection

Cholera - Vibrio Cholerae

Cholera Due To Vibrio Cholerae

Vibrio Cholerae

Cholera Syndrome

Asiatic Cholera

Epidemic Cholera

Oncocytoma

Oxyphilic Adenoma

Follicular Adenoma, Oxyphilic Cell

Adenoma, Oxyphilic

Hurthle Cell Tumor

Oncocytic Neoplasm

Complete Generalized Lipodystrophy
Hepatopulmonary Syndrome
Lipodystrophy, Congenital Generalized, Type 2

Congenital Generalized Lipodystrophy Type 2

CGL2

Berardinelli-Seip Congenital Lipodystrophy Type 2

Berardinelli-Seip Syndrome

Brunzell Syndrome Bscl2-Related

Total Lipodystrophy And Acromegaloid Gigantism

Berardinelli-Seip Congenital Lipodystrophy, Type 2

Seip Syndrome

Berardinelli Syndrome

Lipodystrophy, Total, And Acromegaloid Gigantism

Lipoatrophic Diabetes, Congenital

Lipodystrophy, Berardinelli-Seip Congenital, Type 2

Brunzell Syndrome, Bscl2-Related

Congenital Lipoatrophic Diabetes

Congenital Generalized Lipodystrophy 2

Lipoatrophic Diabetes

Lipodystrophy Berardinelli Type

Familial Generalized Lipodystrophy

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2

Li-Fraumeni Syndrome

Sarcoma Family Syndrome Of Li And Fraumeni

Sbla Syndrome

LFS

Li-Fraumeni Familiar Cancer Susceptibility Syndrome

Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

Lfs1

Li Fraumeni Syndrome

Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

Lfl

Sbla Syndrome Li-Fraumeni-Like Syndrome

Li-Fraumeni Syndrome 1

Tetanus

Lockjaw

Clostridial Tetanus

Infection Due To Clostridium Tetani

Lock-Jaw

Pulmonary Fibrosis

Fibrosis Of Lung

Malignant Hyperthermia

Anesthesia Related Hyperthermia

Malignant Hyperpyrexia Due To Anesthesia

Hyperpyrexia, Malignant

Hyperthermia, Malignant

Malignant Hyperpyrexia

Mhs

Malignant Fever

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Lipodystrophy, Congenital Generalized, Type 4

Congenital Generalized Lipodystrophy Type 4

CGL4

Berardinelli-Seip Congenital Lipodystrophy, Type 4, With Muscular Dystrophy

Lipodystrophy, Berardinelli-Seip Congenital, Type 4, With Muscular Dystrophy

Berardinelli-Seip Congenital Lipodystrophy Type 4 With Muscular Dystrophy

Generalized Congenital Lipodystrophy With Myopathy

Congenital Generalised Lipodystrophy Type 4

Generalised Congenital Lipodystrophy Type 4

Generalised Congenital Lipodystrophy With Myopathy

Generalized Congenital Lipodystrophy Type 4

Gcl4

Congenital Generalized Lipodystrophy 4

Berardinelli-Seip Congenital Lipodystrophy Type 4

Retinal Cone Dystrophy 4

RCD4

Doid:0081023

Dystrophy, Retinal Cone, Type 4

Pulmonary Venoocclusive Disease

Pulmonary Veno-Occlusive Disease

Obstructive Disease Of The Pulmonary Veins

Pvod

Isolated Pulmonary Venous Sclerosis

Venous Form Of Primary Pulmonary Hypertension

Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Lipodystrophy, Familial Partial, Type 2

FPLD2

Lipoatrophic Diabetes

Familial Partial Lipodystrophy Type 2

Familial Partial Lipodystrophy, Dunnigan Type

Fpl2

Lipoatrophic Diabetes Mellitus

Lipodystrophy, Familial Partial, Dunnigan Type

Lipodystrophy, Familial, Of Limbs And Lower Trunk

Lipodystrophy, Reverse Partial

Familial Partial Lipodystrophy Dunnigan Type

Dunnigan Syndrome

Familial Lipodystrophy Of Limbs And Lower Trunk

Reverse Partial Lipodystrophy

Lipodystrophy, Familial Partial, 2

Generalized Lipoatrophy Associated With Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy And Leukomelanodermic Papules

Lipodystrophy Familial Of Limbs And Lower Trunk

Lipodystrophy Reverse Partial

Diabetes Mellitus, Lipoatrophic

Familial Partial Lipodystrophy, Type 2

Familial Generalized Lipodystrophy

Achalasia

Cardiospasm

Achalasia Of Cardia

Esophageal Achalasia

Hypertensive Lower Esophageal Sphincter

Idiopathic Achalasia

Achalasia Cardia

Idiopathic Achalasia Of Esophagus

Primary Achalasia

Achalasia Of Esophagus

Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter

Aperistalsis Of The Oesophagus

Achalasia Of Oesophagus

Oesophageal Achalasia

Achalasia Nos

Cardia Spasm

Cardia Achalasia

Oesophageal Cardiospasm

Oesophagus Achalasia

Reflex Cardiospasm

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Colon Adenocarcinoma

Adenocarcinoma Of Colon

Adenocarcinoma Of The Colon

Colonic Adenocarcinoma

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Bladder Cancer

Urinary Bladder Cancer

Bladder Carcinoma

Urinary Bladder Carcinoma

Bladder Neoplasm

Bladder Tumor

Cancer, Bladder

Malignant Neoplasm Of Urinary Bladder

Carcinoma Of Bladder

Bladder Cancer, Somatic

Tumor Of The Bladder

Carcinoma Of Urinary Bladder

Bladder Carcinoma Urinary

Cancer Of The Urinary Bladder

Cancer, Urinary Bladder

Malignant Bladder Neoplasm

Malignant Bladder Tumor

Neoplasm Of The Bladder

Neoplasm Of The Urinary Bladder

Tumor Of The Urinary Bladder

Urinary Bladder Neoplasm

BLC

Urothelial Carcinoma Of The Bladder

Bladder Tumors

Urinary Bladder Neoplasms

Bladder Cancer Nos

Vesical Cancer Nos

Malignant Neoplasm Of Bladder, Part Unspecified

Malignant Tumour Of Urinary Bladder

Primary Malignant Neoplasm Of Bladder

Laryngotracheitis
Spermatogenic Failure 6

Globozoospermia

SPGF6

Round-Headed Spermatozoa

Acrosome Malformation Of Spermatozoa

Spermatogenic Failure 9

Spermatozoa, Round-Headed

Globozoospermia, Complete

Globozoospermia, Total

Mae Infertility Due To Round-Headed Spermatozoa

Male Infertility Due To Globozoospermia

Male Infertility Due To Round-Headed Spermatozoa

Round-Headed Sperm Syndrome

Spgf9

Teratozoospermia

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

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

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma

POAG

Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma

GLC1E

Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Rippling Muscle Disease 2

Rippling Muscle Disease

Rmd

Lgmd1c

RMD2

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

Muscular Dystrophy, Limb-Girdle, Type 1c

Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly

Lgmd1c, Formerly

Limb-Girdle Muscular Dystrophy Type 1c

Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency

Muscular Dystrophy, Limb-Girdle, Type Ic

Rippling Muscle Syndrome

Limb-Girdle Muscular Dystrophy 1c

Dystrophy, Muscular, Limb-Girdle, Type 1c

Disease, Muscle, Rippling, Type 2

Rippling Muscle Disease 1

Glaucoma, Normal Tension

Low Tension Glaucoma

Glaucoma, Normal Tension, Susceptibility To

Normal Tension Glaucoma

Ntg

Glaucoma, Normal Pressure

NPG

Glaucoma, Normal Pressure, Susceptibility To

Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Amelogenesis Imperfecta, Type Ig

Enamel-Renal Syndrome

Ers

Amelogenesis Imperfecta Type 1g

AI1G

Enamel-Renal-Gingival Syndrome

Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome

Aigfs

Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis

Amelogenesis Imperfecta Hypoplastic With Nephrocalcinosis

Amelogenesis Imperfecta Type Ig

Amelogenesis Imperfecta-Nephrocalcinosis Syndrome

Amelogenesis Imperfecta 1g

Hypoplastic Amelogenesis Imperfecta With Nephrocalcinosis

Amelogenesis Imperfecta Nephrocalcinosis

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Rhabdomyosarcoma
Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

Brugada Syndrome 4

BRGDA4

Brugada Syndrome, Type 4

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk

Idiopathic Hyperckemia

Isolated Hyperckemia

Elevated Serum Creatine Phosphokinase

H-Ck

Idiopathic Persistent Elevation Of Serum Creatine Kinase

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

Spinocerebellar Ataxia, X-Linked 3

Scax3

X-Linked Spinocerebellar Ataxia 3

X-Linked Ataxia-Deafness Syndrome

X-Linked Spinocerebellar Ataxia Type 3

Ataxia-Deafness Syndrome, X-Linked

Spinocerebellar Ataxia X-Linked Type 3

Ataxia-Deafness Syndrome X-Linked

X-Linked Ataxia-Hearing Loss Syndrome

Spinocerebellar Ataxia, X-Linked, 3

Spinocerebellar Ataxia, X-Linked 4

Scax4

X-Linked Spinocerebellar Ataxia 4

X-Linked Ataxia-Dementia Syndrome

X-Linked Spinocerebellar Ataxia Type 4

Ataxia-Dementia Syndrome, X-Linked

Spinocerebellar Ataxia X-Linked Type 4

Ataxia-Dementia Syndrome X-Linked

Spinocerebellar Ataxia, X-Linked, 4

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

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Moyamoya Disease 1

Moyamoya Disease

Spontaneous Occlusion Of The Circle Of Willis

Mymy

Progressive Intracranial Arterial Occlusion

Moyamoya Syndrome

MYMY1

Cerebrovascular Moyamoya Disease

Moya-Moya Disease

Progressive Intracranial Occlusive Arteropathy

Idiopathic Moyamoya Disease

Diabetes Mellitus

Diabetes

Amelogenesis Imperfecta

Ai

Congenital Enamel Hypoplasia

Al - [Amelogenesis Imperfecta]

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

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

Cryptogenic Fibrosing Alveolitis

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

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

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CAV1 MGD MGI:102709
Felis catus CAV1 VGNC VGNC:69367
Rattus norvegicus CAV1 RGD RGD:2280
Bos taurus CAV1 VGNC VGNC:26799
Canis familiaris CAV1 VGNC VGNC:38751
Macaca mulatta CAV1 VGNC VGNC:80805