Disease ID | Disease name | Source of annotation with SLC4A1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
166900 | OVALOCYTOSIS, SOUTHEAST ASIAN | OMIM | link to OMIM | 1 | SLC4A1 |
112050 | BLOOD GROUP--WRIGHT ANTIGEN | OMIM | link to OMIM | 1 | SLC4A1 |
601551 | BLOOD GROUP--FROESE | OMIM | link to OMIM | 1 | SLC4A1 |
110500 | BLOOD GROUP--DIEGO SYSTEM | OMIM | link to OMIM | 1 | SLC4A1 |
611590 | RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SLC4A1 |
611162 | MALARIA, SUSCEPTIBILITY TO | OMIM | link to OMIM | 16 | FCGR2A, TIRAP, ICAM1, ACKR1, G6PD, GYPC, TNF, SLC4A1, NOS2, HBB, CISH, GYPB, FCGR2B, CR1, CD36, GYPA |
185020 | CRYOHYDROCYTOSIS | ClinVar, OMIM | link to OMIM | 1 | SLC4A1 |
601550 | BLOOD GROUP--SWANN SYSTEM | OMIM | link to OMIM | 1 | SLC4A1 |
112010 | BLOOD GROUP--WALDNER TYPE | OMIM | link to OMIM | 1 | SLC4A1 |
179800 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SLC4A1 |
612653 | SPHEROCYTOSIS, TYPE 4 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SLC4A1 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Collecting duct acid secretion | hsa04966 | 7.91 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
O2/CO2 exchange in erythrocytes | R-HSA-1480926 | 9.98 |
Erythrocytes take up oxygen and release carbon dioxide | R-HSA-1247673 | 9.98 |
Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
Transport of inorganic cations/anions and amino acids/oligopeptides | R-HSA-425393 | 6.41 |
Metabolism | R-HSA-1430728 | 2.34 |
SLC-mediated transmembrane transport | R-HSA-425407 | 4.95 |
Bicarbonate transporters | R-HSA-425381 | 9.81 |
Erythrocytes take up carbon dioxide and release oxygen | R-HSA-1237044 | 9.98 |
GO term | GO ID | GO IC |
---|---|---|
ion antiporter activity | GO:0099516 | 5.75 |
protein C-terminus binding | GO:0008022 | 4.5 |
enzyme binding | GO:0019899 | 2.27 |
binding | GO:0005488 | 0.18 |
ankyrin binding | GO:0030506 | 6.74 |
anion transmembrane transporter activity | GO:0008509 | 4.43 |
actin binding | GO:0003779 | 3.74 |
bicarbonate transmembrane transporter activity | GO:0015106 | 6.79 |
inorganic anion transmembrane transporter activity | GO:0015103 | 4.87 |
chloride transmembrane transporter activity | GO:0015108 | 5.24 |
identical protein binding | GO:0042802 | 2.63 |
protein homodimerization activity | GO:0042803 | 3.16 |
antiporter activity | GO:0015297 | 5.33 |
secondary active transmembrane transporter activity | GO:0015291 | 4.29 |
transporter activity | GO:0005215 | 2.57 |
substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
substrate-specific transporter activity | GO:0022892 | 2.72 |
anion:anion antiporter activity | GO:0015301 | 6.41 |
cytoskeletal protein binding | GO:0008092 | 3.02 |
organic anion transmembrane transporter activity | GO:0008514 | 5.31 |
protein anchor | GO:0043495 | 7.66 |
ion transmembrane transporter activity | GO:0015075 | 3.04 |
transmembrane transporter activity | GO:0022857 | 2.82 |
active transmembrane transporter activity | GO:0022804 | 3.85 |
protein binding | GO:0005515 | 0.46 |
inorganic anion exchanger activity | GO:0005452 | 6.69 |
protein dimerization activity | GO:0046983 | 2.72 |