1. Gene
  2. CFTR - CF transmembrane conductance regulator Gene

CFTR - CF transmembrane conductance regulator Gene

Homo sapiens

Also known as CF; MRP7; ABC35; ABCC7; CFTR/MRP; TNR-CFTR; dJ760C5.1

Gene ID: 1080 | Gene type: protein coding

About CFTR

Cytogenetic location: 7q31.2 Genomic coordinates (GRCh38): 7:117,480,025-117,668,665 (from NCBI)

This gene has 38 transcripts (splice variants), 215 orthologues, 11 paralogues and is associated with 10 phenotypes. Biased expression in gall bladder (RPKM 28.8), colon (RPKM 22.3) and 6 other tissues.

Summary

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a Chloride Channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]

CFTR Products(1)

mRNA Protein Name
NM_000492.4 NP_000483.3 cystic fibrosis transmembrane conductance regulator

CFTR Protein Structure

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (84 - 350)

ABC_tran

ABC_tran: ABC transporter (441 - 575)

CFTR_R

CFTR_R: Cystic fibrosis TM conductance regulator (CFTR), regulator domain (639 - 850)

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (862 - 1147)

ABC_tran

ABC_tran: ABC transporter (1227 - 1374)

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  • 1480 a.a.
Protein Preferred Names Protein Names

cystic fibrosis transmembrane conductance regulator

cAMP-dependent chloride channel

channel conductance-controlling ATPase

cystic fibrosis transmembrane conductance regulating

cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)

Related Diseases

Diseases Alias
Bilirubin Metabolic Disorder

Hyperbilirubinemia

Hereditary Hyperbilirubinemia

Hyperbilirubinemia, Hereditary

Hyperbilirubinaemia

Hyperchlorhidrosis, Isolated

Isolated Hyperchlorhidrosis

HYCHL

Carbonic Anhydrase Xii Deficiency

Bronchiectasis 3
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 1

PKD1

Adpkd

Polycystic Kidney Disease, Adult, Type I

Apkd1

Potter Type Iii Polycystic Kidney Disease

Polycystic Kidney Disease, Adult

Potter Type Iii Polycystic Kidney Disease, Formerly

Polycystic Kidney Disease, Type 1

Adpkd1

Adult Polycystic Kidney Disease Type 1

Autosomal Dominant Polycystic Kidney Disease 1

Pkd-1

Polycystic Kidney Disease Adult

Polycystic Kidney Disease Type I

Polycystic Kidneys

Polycystic Kidney Disease, Adult Type I

Polycystic Kidney Type 1 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 1

Polycystic Kidney, Autosomal Dominant

Polycystic Kidney, Type 1 Autosomal Dominant Disease

Polycystic Kidney Diseases

Bacterial Infectious Disease

Bacterial Infections

Bacterial Infection Nos

Disease Caused By Bacteria

Bacterial Disease Or Disorder

Alpha-1-Antitrypsin Deficiency

Alpha 1-Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency

Aat Deficiency

Aatd

A1ATD

Emphysema Due To Aat Deficiency

A1at Deficiency

Hemorrhagic Diathesis Due To Antithrombin Pittsburgh

Emphysema-Cirrhosis, Due To Aat Deficiency

Alpha-1 Antiprotease Deficiency

Alpha 1 Antitrypsin Deficiency

Aat

Alpha-1 Protease Inhibitor Deficiency

Alpha-1 Related Emphysema

Genetic Emphysema

Hereditary Pulmonary Emphysema

Inherited Emphysema

Alpha-1-Proteinase Inhibitor Deficiency

Alpha1-Antitrypsin Deficiency

Alpha-1-Antitrypsin Deficiency, Autosomal Recessive

Emphysema, Hereditary Pulmonary

Aatd - [Alpha-1-Antitrypsin] Deficiency

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease

Arpkd

Polycystic Kidney Disease, Autosomal Recessive

Polycystic Kidney And Hepatic Disease 1

Pkhd1

PKD4

Polycystic Kidney Disease 4 With Or Without Hepatic Disease

Polycystic Kidney Disease, Infantile, Type I

Polycystic Kidney Disease, Infantile Type

Polycystic Kidney, Autosomal Recessive

Pkd3, Formerly

Polycystic Kidney Disease 4, With Or Without Hepatic Disease

Arpkd/Chf

Ar-Pkd

Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

Infantile Polycystic Kidney Disease Type I

Pkd3

Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

Polycystic Kidney Disease 3, Autosomal Dominant

Young Syndrome

Sinusitis-Infertility Syndrome

Azoospermia-Sinopulmonary Infections Syndrome

Azoospermia, Obstructive, And Chronic Sinopulmonary Infections

Barry-Perkins-Young Syndrome

Azoospermia Obstructive And Chronic Sinopulmonary Infections

Barry Perkins Young Syndrome

Azoospermia - Sinopulmonary Infections

Spermatogenic Failure 10

SPGF10

Spermatogenic Failure With Defective Sperm Annulus

Spermatogenic Failure, Type 10

Pulmonary Disease, Chronic Obstructive

Chronic Obstructive Pulmonary Disease

COPD

Pulmonary Disease, Chronic Obstructive, Severe Early-Onset

Chronic Obstructive Lung Disease

Chronic Obstructive Airway Disease

Pulmonary Disease, Chronic Obstructive, Susceptibility To

Cold

Severe Early-Onset Chronic Obstructive Pulmonary Disease

Pulmonary Disease Chronic Obstructive

Pulmonary Disease, Obstructive, Chronic, Susceptibility To

Chronic Obstructive Pulmonary Disease Of Horses

Common Cold

Upper Respiratory Infections

Copd - [Chronic Obstructive Pulmonary Disease]

Coad - [Chronic Obstructive Airways Disease]

Cold - [Chronic Obstructive Lung Disease]

Chronic Airway Disease Nos

Chronic Airways Limitation, Unspecified

Chronic Obstructed Airway, Unspecified

Chronic Obstructive Airway Disease, Unspecified

Chronic Obstructive Airway, Unspecified

Obstructive Lung Disease Nos

Chronic Obstructive Lung Disease Nos

Chronic Obstructive Lung Nos

Obstructive Pulmonary Disease Nos

Exacerbation Copd Nos

Acute Exacerbation Copd

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis

Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome

Hupra Syndrome

Alkalosis

HUPRAS

Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis

Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome

Hyperuricemia-Pulmonary Hypertension-Renal Failure-Alkalosis Syndrome

Alkalosis Nos

Acute Necrotizing Pancreatitis

Acute Pancreatitis

Pancreatitis, Acute Necrotizing

Pancreatitis Necrotizing

Necrotizing Pancreatitis

Pancreatitis

Pancreatitis Nos

Acute Pancreas Inflammation

Pseudoxanthoma Elasticum

PXE

Gronblad-Strandberg Syndrome

Pseudoxanthoma Elasticum, Modifier Of Severity Of

Gronblad-Strandberg-Touraine Syndrome

Gronblad Strandberg Syndrome

Groenblad-Strandberg Syndrome

Nevus Elasticus

Pxe - [Pseudoxanthoma Elasticum]

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

Vas Deferens, Congenital Bilateral Aplasia Of

Congenital Bilateral Absence Of Vas Deferens

CBAVD

Cavd

Congenital Bilateral Aplasia Of Vas Deferens

Congenital Bilateral Absence Of The Vas Deferens

Congenital Bilateral Agenesis Of Vas Deferens

Absence Of Vas Deferens

Absent Vasa

Congenital Absence Of Vas Deferens

Congenital Aplasia Of Vas Deferens

Absent Vas Deferens

Vas Deferens, Congenital Bilateral Absence

Chylomicron Retention Disease

CMRD

Anderson Disease

Lipid Transport Defect Of Intestine

Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells

Andd

Anderson Syndrome

Crd

Andersons Disease

Malabsorption Syndrome

Protein-Energy Malnutrition

PEM

Protein Energy Malnutrition

Bronchitis

Chronic Bronchitis

Acute Bronchitis

Bronchitis, Chronic

Acute Bronchitis And Bronchiolitis

Chest Cold

Chest Infection

Ci - Chest Infection

Recurrent Wheezy Bronchitis

Bronchitis Chronic

Lower Respiratory Tract Infection

Acute Lower Respiratory Tract Infection

Chronic Bronchitis Nos

Senile Bronchitis

Bronchitis Nos In Those Under L5 Years Of Age

Bronchitis Nos

Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Hereditary Haemochromatosis

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis

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

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]

Sickle Cell Anemia

Hemoglobin Sc Disease

Anemia, Sickle Cell

Hbsc Disease

Sickle Cell-Hemoglobin C Disease Syndrome

Hb Ss Disease

Sickle Cell Trait

Drepanocytosis

Haemoglobin Sc Disease

Hb Sc Disease

Hb-S/Hb-C Disease

Hb-Ss Disease Without Crisis

Hemoglobin S Disease Without Crisis

Sickle Cell Anaemia

Sickle-Cell/Hb-C Disease Without Crisis

Sickle Cell - Hemoglobin C Disease

Hbs Disease

Hemoglobin S Disease

Sickling Disorder Due To Hemoglobin S

SKCA

Sickle Cell Disease

Sickle Cell-Hemoglobin C Disease

Sickle-Cell Disease Carrier

Sickle-Cell Heterozygous Disorder

Haemoglobin A-S Genotype

Hb-S - [Sickle Cell Haemoglobin] Carrier

Sickle Cell Haemoglobin Trait

As - [Sickle Cell Trait]

Hbas - [Sickle Cell Haemoglobin Trait]

Sickle-Cell Trait Haemoglobin Disease

Haemoglobin Sickle Cell Trait Disorder

Heterozygous Sickle Cell Trait

Hbas - [Heterozygous Haemoglobin S]

Intestinal Pseudo-Obstruction

Chronic Intestinal Pseudoobstruction

Chronic Intestinal Pseudo-Obstruction

Cipo

Neuronal Intestinal Dysplasia

Hollow Visceral Myopathy

Familial Visceral Neuropathy

Paralytic Ileus

Intestinal Pseudoobstruction

Chronic Idiopathic Intestinal Pseudo-Obstruction

Ciip

Congenital Short Bowel Syndrome

Enteric Neuropathy

Familial Visceral Myopathy

Ipo

Pseudo-Obstruction Of Intestine

Pseudointestinal Obstruction Syndrome

Pseudoobstructive Syndrome

Congenital Idiopathic Intestinal Pseudoobstruction

Visceral Myopathy, Familial

Dubin-Johnson Syndrome

DJS

Chronic Idiopathic Jaundice

Jaundice, Chronic Idiopathic

Hyperbilirubinemia, Dubin-Johnson Type

Hyperbilirubinemia Ii

Hyperbilirubinemia Type 2

Conjugated Hyperbilirubinemia

Dubin-Sprinz Disease

Sprinz-Nelson Syndrome

Hblrdj

Dubin Johnson Syndrome

Hyperbilirubinemia 2

Black Liver-Jaundice Syndrome

Chronic Idiopathic Jaundice With Pigmented Liver

Dubin-Sprinz Syndrome

Hyperbilirubinaemia Type 2

Djs - [Dubin-Johnson Syndrome]

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Nephrogenic Diabetes Insipidus

Vasopressin-Resistant Diabetes Insipidus

Diabetes Insipidus, Nephrogenic

Diabetes Insipidus Nephrogenic

Congenital Nephrogenic Diabetes Insipidus

Adh Resistant Diabetes Insipidus

Diabetes Insipidus Nephrogenic X-Linked

Diabetes Insipidus Nephrogenic Type 1

Adh-Resistant Diabetes Insipidus

Diabetes Insipidus Renalis

Ndi

Renal Diabetes Insipidus

Familial Nephrogenic Diabetes

Antidiuretic-Hormone-Resistant Diabetes Insipidus

Adiuretin-Resistant Diabetes Insipidus

Ndi - [Nephrogenic Diabetes Insipidus]

Diabetes Tenuifluus

Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus

Hereditary Nephrogenic Diabetes Insipidus

Familial Nephrogenic Diabetes Insipidus

Primary Nephrogenic Diabetes Insipidus

Pancreatitis

Mumps Pancreatitis

Intussusception

Intussusception Of Intestine

Invagination Of Intestine Or Colon

Progressive Familial Intrahepatic Cholestasis

Abcb4-Related Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic

Pfic

Byler Disease

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Bsep Deficiency

Byler Disease

Byler Syndrome

Fic1 Deficiency

Low Γ-Gt Familial Intrahepatic Cholestasis

Mdr3 Deficiency

Pfic

Cholestasis, Intrahepatic, Familial, Progressive

Pfic - [Progressive Familial Intrahepatic Cholestasis]

Aspergillosis

Aspergillosis, Susceptibility To

Infection Due To Aspergillus

Aspergilloma

Aspergillus Nodule

Simple Aspergilloma

Aspergillus

Aspergillus Flavus Infection

Aspergillus Fumigatus Infection

Aspergillus Infection

Infection By Aspergillus Fumigatus

Intracavitary Aspergillus Fungus Ball

Aspergillus Terreus

Secretory Diarrhea
Acrokeratoderma, Hereditary Papulotranslucent

Hereditary Papulotranslucent Acrokeratoderma

Methylmalonic Aciduria And Homocystinuria, Cbld Type

Homocystinuria, Cbld Type, Variant 1

Methylmalonic Aciduria And Homocystinuria Type Cbld

Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2

MAHCD

Methylmalonic Acidemia And Homocystinuria, Cbld Type

Methylmalonic Aciduria, Cblh Type, Formerly

Methylmalonic Acidemia, Cblh Type, Formerly

Methylmalonic Aciduria, Cbld Type, Variant 2

Cobalamin D Deficiency

Methylcobalamin Deficiency Type Cbldv1

Functional Methionine Synthase Deficiency Type Cbldv1

Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2

Methylmalonic Acidemia With Homocystinuria, Type Cbld

Cbld Defect

Cobalamin D Defect

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld

Methylmalonic Aciduria With Homocystinuria, Type Cbld

Homocystinuria Cbld Variant 1

Methylmalonic Acidemia And Homocystinuria Cbld Type

Methylmalonic Aciduria And Homocystinuria Cbld-Combined

Methylmalonic Aciduria And Homocystinuria Cbld Original

Methylmalonic Aciduria Cbld Variant 2

Aciduria, Methylmalonic, And Homocystinuria, Cbld Type

Microvillus Inclusion Disease

Congenital Microvillous Atrophy

Intractable Diarrhea Of Infancy

Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities

Davidson Disease

Congenital Microvillus Atrophy

Microvillous Inclusion Disease

Mvid

Diarrhea 2 With Microvillus Atrophy

Mvd

Congenital Familial Protracted Diarrhea

Davidson'S Disease

Familial Enteropathy, Microvillus

Microvillus Atrophy, Congenital

Congenital Enteropathy

Familial Protracted Enteropathy

Microvillous Atrophy

Microvillus Atrophy With Diarrhea 2

Idi

Constipation
Cholangitis

Acute Cholangiolitis

Ascending Cholangitis

Cholangiolitis

Cholangitis Nos

Chronic Cholangiolitis

Hepatic Duct Inflammation

Acute Cholangitis

Bile Duct Inflammation

Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis

BRIC1

Summerskill Syndrome

Bric

Summerskill-Walshe-Tygstrup Syndrome

Cholestasis, Benign Recurrent Intrahepatic

Benign Recurrent Intrahepatic Cholestasis 1

Benign Recurrent Intrahepatic Cholestasis Type 1

Bric Type 1

Low Gamma-Gt Familial Intrahepatic Cholestasis

Recurrent Familial Intrahepatic Cholestasis

Cholestasis, Benign Recurrent Intrahepatic 1

Mild Atp8b1 Deficiency

Recurrent Familial Intrahepatic Cholestasis 1

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Recurrent, Benign, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3

Bric - [Benign Recurrent Intrahepatic Cholestasis]

Alcoholic Pancreatitis

Pancreatitis, Alcoholic

Pancreatitis Alcoholic

Urea Cycle Disorder

Urea Cycle Disorders

Urea Cycle Disorders, Inborn

Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

Disorder Of Urea Cycle Metabolism

Urea Cycle Defect

Ucd

Disorder Of The Urea Cycle Metabolism

Disorder Of Urea Cycle

Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

Ammonia Metabolic Disorder

Cholangitis, Primary Sclerosing

Primary Sclerosing Cholangitis

PSC

Sclerosing Cholangitis

Cholangitis, Sclerosing

Cholangitis Primary Sclerosing

Psc - [Primary Sclerosing Cholangitis]

Gallbladder Disease

Gallbladder Diseases

Gall Bladder

Gall Bladder Diseases

Abnormal Gallbladder Function

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes

Hypogonadotropic Hypogonadism

Klinefelter Syndrome

Klinefelter'S Syndrome

Xxy Syndrome

Xxy Trisomy

Hypogonadotropism

47, Xxy

Congenital Idiopathic Hypogonadotropic Hypogonadism

Isolated Congenital Gonadotropin Deficiency

47,Xxy Syndrome

47, Xxy Syndrome

Klinefelters Syndrome

Hypogonadism

Klinefelter Syndrome In Males

Klinefelter Syndrome, Unspecified

Klinefelter Syndrome Karyotype 47, Xxy

Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Pancreatic Cancer

Pancreatic Carcinoma

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Carcinoma Of Pancreas

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm 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

Cancer Of The Pancreas

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

Asthma

Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus

Oligospermia
Idiopathic Bronchiectasis
Plasma Protein Metabolism Disease
Autosomal Genetic Disease

Autosomal Hereditary Disorder

Polycystic Liver Disease

Autosomal Dominant Polycystic Liver Disease

Isolated Polycystic Liver Disease

Pcld

Congenital Cystic Liver Disease

Congenital Hepatic Cyst

Fibrocystic Liver Disease

Isolated Autosomal Dominant Polycystic Liver Disease

Adpcld

Liver Disease, Polycystic

Multiple Cysts Of Liver

Pld - [Polycystic Liver Disease]

Polycystic Liver Disorder

Polycystic Liver

Congenital Polycystic Disease Of Liver

Congenital Polycystic Liver Disease

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

Autosomal Recessive Disease

Autosomal Recessive Disorder

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Renal Hypodysplasia/Aplasia 1

Renal Agenesis

Renal Adysplasia

Renal Aplasia

RHDA1

Hereditary Renal Aplasia

Hra

Hereditary Urogenital Adysplasia

Hypodysplasia/Aplasia, Renal, Type 1

Congenital Absence Of Kidneys Syndrome

Congenital Absence Of Kidney

Aplastic Kidney

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Typhoid Fever

Typhoid

Enteric Fever

Typhoidal Salmonellosis

Ileotyphus

Infection By Salmonella Typhi

Typhoid Any Site

Typhoid Fever Any Site

Typhoid Infection

Typhoid Infection Any Site

Typhoid Fever Confirmed

Enteric Fever Nos

Pancreatitis, Hereditary

Hereditary Pancreatitis

Chronic Pancreatitis

Hereditary Chronic Pancreatitis

Hp

Pancreatitis, Chronic, Susceptibility To

PCTT

Hpc

Pancreatitis, Chronic

Pancreatitis, Chronic, Protection Against

Autosomal Dominant Hereditary Pancreatitis

Familial Pancreatitis

Cp

Pancreatitis Hereditary

Allergic Bronchopulmonary Aspergillosis

Aspergillosis, Allergic Bronchopulmonary

Abpa

Allergic Bronchopulmonary Mycosis

Hinson-Pepys Disease

Pulmonary Aspergillus Disease

Allergic Aspergillosis

Aspergillosis Allergic Bronchopulmonary

Spermatocele
Autoimmune Pancreatitis

Lymphoplasmocytic Sclerosing Pancreatitis

Aip

Exocrine Pancreatic Insufficiency
Bronchiectasis

Polynesian Bronchiectasis

Kartagener Syndrome

Bronchiectasis Nos

Hypokalemia

Potassium Deficiency

Potassium Deficiency Disorder

Hypopotassemia

Potassium

Potassium [K] Deficiency

Hypokalaemic Syndrome

Hypopotassaemia

Hypopotassaemia Syndrome

Hypokalaemic

Potassium Depletion

Paranasal Sinus Disease

Paranasal Sinus Diseases

Disorder Of Nasal Sinus

Pseudohypoaldosteronism
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

Lung Disease

Lung Diseases

Disorder Of Lung

Abnormality Of The Lung

Nuchal Bleb, Familial

Fetal Cystic Hygroma

Cystic Hygroma, Fetal

Fch

Lymphangioma, Cystic

Phenylketonuria

Phenylalanine Hydroxylase Deficiency

PKU

Pah Deficiency

Folling Disease

Maternal Phenylketonuria

Phenylketonurias

Oligophrenia Phenylpyruvica

Hyperphenylalaninemia, Non-Pku Mild

Folling'S Disease

Phenylalaninemia

Mild Phenylketonuria

Mild Pku

Variant Pku

Variant Phenylketonuria

Mpku

Phenylketonuria, Maternal

Deficiency Disease, Phenylalanine Hydroxylase

Phenylalanine Hydroxylase Deficiency Disease

Hyperphenylalaninemic Embryopathy

Maternal Pku

Maternal Hyperphenylalaninemia

Phenylketonuric Embryopathy

Hyperphenylalaninemia

HPA

Non-Phenylketonuria Hyperphenylalaninemia

NON-PKU HPA

Phenylketonuria Maternal

Classical Phenylketonuria

Hyperphenylalaninaemia

Pku - [Phenylketonuria]

Tuberculous Epididymitis

Tuberculosis Of Epididymis

Kartagener Syndrome

Kartagener'S Syndrome

Chronic Ethmoiditis

Chronic Ethmoidal Sinusitis

Chronic Ethmoid Sinusitis

Ethmoidal Sinusitis - Chronic

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Aquagenic Syringeal Acrokeratoderma

Aquagenic Palmoplantar Keratoderma

Aquagenic Keratoderma

Aquagenic Wrinkling Of The Palms

Transient Reactive Papulotranslucent Acrokeratoderma

Aquagenic Wrinkling Of The Hands

Pancreas Disease

Abnormality Of The Pancreas

Pancreatic Diseases

Biliary Dyskinesia

Sphincter Of Oddi Dysfunction

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

Mucopolysaccharidosis-Plus Syndrome

Mucopolysaccharidosis

Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders

MPSPS

Mucopolysaccharidoses

Mps

Mucopolysaccharidosis-Like Plus Disease

Disorders Of Glycosaminoglycan Metabolism

Inflammatory Diarrhea
Pseudohypoaldosteronism, Type I, Autosomal Recessive

Autosomal Recessive Pseudohypoaldosteronism Type 1

PHA1B

Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism, Type I

Generalized Pha1

Generalized Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism Type 1 Autosomal Recessive

Pha1

Pseudohypoaldosteronism

Pha I, Autosomal Recessive

Autosomal Recessive Pha 1

Pseudohypoaldosteronism Type 1, Recessive

Pseudohypoaldosteronism Type I

Autosomal Recessive Pha1

Pha Type 1

Pseudohypoaldosteronism 1, Autosomal Recessive

Multisystem Pseudohypoaldosteronism

Pha Type I, Autosomal Recessive

Pseudohypoaldosteronism Type I, Autosomal Recessive

Tay-Sachs Disease

Hexosaminidase A Deficiency

TSD

Hexa Deficiency

Gm2 Gangliosidosis, Type 1

Hexosaminidase Alpha-Subunit Deficiency

Gm2-Gangliosidosis, Several Forms

Gm2-Gangliosidosis, B, B1, Ab Variant

B Variant Gm2 Gangliosidosis

Sphingolipidosis, Tay-Sachs

Gm2-Gangliosidosis, Type I

B Variant Gm2-Gangliosidosis

Hex A Pseudodeficiency

Hexa Disorders

Beta-Hexosaminidase A Deficiency

Gm2 Gangliosidosis, Type I

Gangliosidosis Gm2 , Type 1

Gm2 Gangliosidosis, B, B1 Variant

Gm2-Gangliosidosis 1

GM2G1

Gm2-Gangliosidosis B Variant

Tay-Sachs Disease Pseudo-Ab Variant

Tay-Sachs Disease Variant B1

Gangliosidoses, Gm2

Ileus

Ileus Of Intestine

Duodenal Atresia

Duodenal Stenosis

Familial Duodenal Atresia

Bronchiectasis With Or Without Elevated Sweat Chloride 1

Bronchiectasis With Or Without Elevated Sweat Chloride 1, Modifier Of

BESC1

Cystic Fibrosis-Like Syndrome

Bronchiectasis, With/Without Elevated Sweat Chloride, Type 1, Modifier Of

Cholera

Vibrio Cholerae Infection

Cholera - Vibrio Cholerae

Cholera Due To Vibrio Cholerae

Vibrio Cholerae

Cholera Syndrome

Asiatic Cholera

Epidemic Cholera

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

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Cryptogenic Fibrosing Alveolitis

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

Intestinal Obstruction

Inspissated Milk Syndrome

Milk Curd Syndrome

Prss1-Related Hereditary Pancreatitis
Diabetes Mellitus

Diabetes

Pulmonary Edema
Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure

Infertility
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked

CBAVDX

Congenital Bilateral Absence Of Vas Deferens, X-Linked

X-Linked Congenital Bilateral Absence Of Vas Deferens

Congenital Bilateral Aplasia Of The Vas Deferens, X-Linked

Male Urogenital Diseases

Liddle Syndrome 1

Liddle Syndrome

Pseudoaldosteronism

LIDLS1

Lidls

Pseudohyperaldosteronism

Liddle'S Syndrome

Pseudoprimary Hyperaldosteronism

Pseudohyperaldosteronism Type 1

Liddles Syndrome

Pneumonia

Acute Pneumonia

Pneumonias

Infectious Pneumonia

Pn - [Pneumonia]

Lobar Pneumonia Nos

Multifocal Pneumonia

Orthostatic Pneumonia

Pneumonia Nos

Chronic Pneumonia Nos

Atypical Pneumonia

Passive Pneumonia

Purulent Pneumonia

Interstitial Lobar Pneumonia

Pneumonia, Unspecified

Pneumonia Due To Chlamydia

Pneumonia Due To Chlamydia Pneumoniae

Pneumonia Due To E. Coli

Escherichia Coli Lobar Pneumonia

Pneumonia Due To H. Influenzae

Pneumonia Due To Hemophilus Influenzae

Bronchopneumonia Due To H. Influenzae

Haemophilus Influenzae Lobar Pneumonia

Bronchopneumonia Due To Hemophilus Influenzae

Pseudomonal Pneumonia

Pseudomonas Pneumonia

Pseudomonas Lobar Pneumonia

Staphylococcal Pneumonia

Staphylococcus Pneumonia

Acute Staphylococcal Pneumonia

Staphylococcal Double Pneumonia

Staphylococcal Lobar Pneumonia

Staphylococcal Purulent Pneumonia

Staphylococcal Bronchopneumonia

Pneumococcal Pneumonia

Pneumococcus Pneumonia

Bronchopneumonia Due To S. Pneumoniae

Pneumococcal Lobar Pneumonia

Streptococcal Pneumoniae Pneumonia

Streptococcus Pneumoniae Lobar Pneumonia

Pyemic Pneumococcal Embolism With Pneumonia

Bronchopneumonia Due To Streptococcus Pneumoniae

Pneumonia Due To Streptococcus, Group B

Group B Streptococcal Pneumonia

Adenovirus Pneumonia

Adenoviral Pneumonia

Adenovirus Viral Pneumonia

Pneumonia Respiratory Syncytial Viral

Parainfluenza Viral Pneumonia

Parainfluenzal Pneumonia

Parainfluenza Virus Pneumonia

Human Metapneumovirus Pneumonia

Human Metapneumovirus Infection Resulting In Pneumonia

Pneumocystis Pneumonia

Plasma Cells Pneumonia

Cholestasis, Intrahepatic, Of Pregnancy 3

ICP3

Cholestasis, Intrahepatic, Of Pregnancy, 3

Intrahepatic Cholestasis Of Pregnancy 3

Pregnancy Related Cholestasis 3

Cholestasis Of Pregnancy, Intrahepatic 3

Cholestasis, Intrahepatic, Of Pregnancy, Type 3

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
Macaca mulatta CFTR VGNC VGNC:71020
Felis catus CFTR VGNC VGNC:60829
Mus musculus CFTR MGD MGI:88388
Bos taurus CFTR VGNC VGNC:50053
Canis familiaris CFTR VGNC VGNC:39180
Rattus norvegicus CFTR RGD RGD:2332
Others CFTR NCBI