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 |
|
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 |