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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0241005 | Creatine phosphokinase serum increased | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0241005 | Creatine phosphokinase serum increased | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0241005 | Creatine phosphokinase serum increased | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0241005 | Creatine phosphokinase serum increased | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0241005 | Creatine phosphokinase serum increased | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0241005 | Creatine phosphokinase serum increased | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0241005 | Creatine phosphokinase serum increased | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0241005 | Creatine phosphokinase serum increased | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0241005 | Creatine phosphokinase serum increased | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0241005 | Creatine phosphokinase serum increased | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0241005 | Creatine phosphokinase serum increased | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0241005 | Creatine phosphokinase serum increased | LPIN1 | 23175 | lipin 1 | Q14693 |
| C0241005 | Creatine phosphokinase serum increased | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0241005 | Creatine phosphokinase serum increased | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0241005 | Creatine phosphokinase serum increased | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0241005 | Creatine phosphokinase serum increased | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0241005 | Creatine phosphokinase serum increased | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0241397 | Triphalangeal thumb | UMOD | 7369 | uromodulin | P07911 |
| C0241910 | Autoimmune Chronic Hepatitis | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0241910 | Autoimmune Chronic Hepatitis | ARSA | 410 | arylsulfatase A | P15289 |
| C0241910 | Autoimmune Chronic Hepatitis | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0241910 | Autoimmune Chronic Hepatitis | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0241910 | Autoimmune Chronic Hepatitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0241910 | Autoimmune Chronic Hepatitis | HK1 | 3098 | hexokinase 1 | P19367 |
| C0241910 | Autoimmune Chronic Hepatitis | LGALS9 | 3965 | galectin 9 | O00182 |
