Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1

Synonyms

RENAL TUBULAR ACIDOSIS, DISTAL, 1

AE1

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 PRAGUE II

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 TUSCALOOSA

EPB3

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 TOKYO

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 NOIRTERRE

SWANN BLOOD GROUP ANTIGEN

ACANTHOCYTOSIS, ONE FORM OF

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 LYON

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 FUKUOKA

DIEGO BLOOD GROUP ANTIGEN

BAND 3 MEMPHIS

ERYTHROID PROTEIN BAND 3

FROESE BLOOD GROUP ANTIGEN

BAND 3 OF RED CELL MEMBRANE

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 COIMBRA

OVALOCYTOSIS, SOUTHEAST ASIAN

CRYOHYDROCYTOSIS DUE TO BAND 3 HEMEL

RENAL TUBULAR ACIDOSIS, DISTAL 4, WITH HEMOLYTIC ANEMIA

RENAL TUBULAR ACIDOSIS, DISTAL 1

WRIGHT BLOOD GROUP ANTIGEN

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 CAPE TOWN

RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA

WALDNER BLOOD GROUP ANTIGEN

ERYTHROCYTE MEMBRANE PROTEIN BAND 3

MALARIA, CEREBRAL, RESISTANCE TO

BND3

RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 PRAGUE

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 CHUR

CRYOHYDROCYTOSIS DUE TO BAND 3 BLACKBURN

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 PRAGUE III

CRYOHYDROCYTOSIS DUE TO BAND 3 HURSTPIERPOINT

SLC4A1

EMPB3

ACANTHOCYTOSIS DUE TO BAND 3 HT

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 GENAS

ANION EXCHANGE PROTEIN 1

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 MONTEFIORE

ID

http://purl.bioontology.org/ontology/OMIM/109270

altLabel

RENAL TUBULAR ACIDOSIS, DISTAL, 1

AE1

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 PRAGUE II

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 TUSCALOOSA

EPB3

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 TOKYO

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 NOIRTERRE

SWANN BLOOD GROUP ANTIGEN

ACANTHOCYTOSIS, ONE FORM OF

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 LYON

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 FUKUOKA

DIEGO BLOOD GROUP ANTIGEN

BAND 3 MEMPHIS

ERYTHROID PROTEIN BAND 3

FROESE BLOOD GROUP ANTIGEN

BAND 3 OF RED CELL MEMBRANE

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 COIMBRA

OVALOCYTOSIS, SOUTHEAST ASIAN

CRYOHYDROCYTOSIS DUE TO BAND 3 HEMEL

RENAL TUBULAR ACIDOSIS, DISTAL 4, WITH HEMOLYTIC ANEMIA

RENAL TUBULAR ACIDOSIS, DISTAL 1

WRIGHT BLOOD GROUP ANTIGEN

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 CAPE TOWN

RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA

WALDNER BLOOD GROUP ANTIGEN

ERYTHROCYTE MEMBRANE PROTEIN BAND 3

MALARIA, CEREBRAL, RESISTANCE TO

BND3

RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 PRAGUE

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 CHUR

CRYOHYDROCYTOSIS DUE TO BAND 3 BLACKBURN

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 PRAGUE III

CRYOHYDROCYTOSIS DUE TO BAND 3 HURSTPIERPOINT

SLC4A1

EMPB3

ACANTHOCYTOSIS DUE TO BAND 3 HT

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 GENAS

ANION EXCHANGE PROTEIN 1

SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 MONTEFIORE

cui

C4015895

C4015889

C4015896

C1862190

C1704380

C1420193

C3892933

C4015891

C1862320

C5436235

C1862322

C4015894

C4015900

C1969379

C4015890

C1969039

C4015904

C4225456

C4015899

C4225645

C1862191

C4015902

C4225646

C4015901

C1832168

C4015903

C4015897

C4225644

C4015892

C4015893

Gene Locus

17q21-q22

Gene Symbol

SAO

AE1

SPH4

SLC4A1

CHC

EPB3

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/109270.0025

http://purl.bioontology.org/ontology/OMIM/109270.0022

http://purl.bioontology.org/ontology/OMIM/109270.0021

http://purl.bioontology.org/ontology/OMIM/109270.0029

http://purl.bioontology.org/ontology/OMIM/109270.0026

http://purl.bioontology.org/ontology/OMIM/109270.0028

http://purl.bioontology.org/ontology/OMIM/109270.0027

http://purl.bioontology.org/ontology/OMIM/109270.0020

http://purl.bioontology.org/ontology/OMIM/109270.0023

http://purl.bioontology.org/ontology/OMIM/109270.0024

http://purl.bioontology.org/ontology/OMIM/109270.0030

http://purl.bioontology.org/ontology/OMIM/109270.0034

http://purl.bioontology.org/ontology/OMIM/109270.0032

http://purl.bioontology.org/ontology/OMIM/109270.0033

http://purl.bioontology.org/ontology/OMIM/109270.0035

http://purl.bioontology.org/ontology/OMIM/109270.0031

http://purl.bioontology.org/ontology/OMIM/109270.0019

http://purl.bioontology.org/ontology/OMIM/109270.0010

http://purl.bioontology.org/ontology/OMIM/109270.0013

http://purl.bioontology.org/ontology/OMIM/109270.0012

http://purl.bioontology.org/ontology/OMIM/109270.0014

http://purl.bioontology.org/ontology/OMIM/109270.0018

http://purl.bioontology.org/ontology/OMIM/109270.0016

http://purl.bioontology.org/ontology/OMIM/109270.0015

http://purl.bioontology.org/ontology/OMIM/109270.0017

http://purl.bioontology.org/ontology/OMIM/109270.0011

http://purl.bioontology.org/ontology/OMIM/109270.0007

http://purl.bioontology.org/ontology/OMIM/109270.0009

http://purl.bioontology.org/ontology/OMIM/109270.0004

http://purl.bioontology.org/ontology/OMIM/109270.0003

http://purl.bioontology.org/ontology/OMIM/109270.0006

http://purl.bioontology.org/ontology/OMIM/109270.0001

http://purl.bioontology.org/ontology/OMIM/109270.0002

http://purl.bioontology.org/ontology/OMIM/109270.0005

http://purl.bioontology.org/ontology/OMIM/109270.0008

MIMTYPEMEANING

Gene with known sequence and phenotype

notation

109270

OMIM Entry Type

4

OMIM MimType Value

plus

prefLabel

SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1

tui

T116

T129

T047

T033

T028

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