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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 |
|---|---|---|---|---|---|
| C0028738 | Nystagmus | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0028738 | Nystagmus | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0028738 | Nystagmus | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0028738 | Nystagmus | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0028738 | Nystagmus | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0028738 | Nystagmus | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0028738 | Nystagmus | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0028738 | Nystagmus | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0028738 | Nystagmus | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0028738 | Nystagmus | PRNP | 5621 | prion protein | F7VJQ1 |
| C0028738 | Nystagmus | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0028738 | Nystagmus | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0028077 | Nyctalopia | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0028077 | Nyctalopia | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0028077 | Nyctalopia | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0028077 | Nyctalopia | HK1 | 3098 | hexokinase 1 | P19367 |
| C0028077 | Nyctalopia | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0028077 | Nyctalopia | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0028077 | Nyctalopia | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0028077 | Nyctalopia | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0028077 | Nyctalopia | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0028077 | Nyctalopia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0028077 | Nyctalopia | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0028077 | Nyctalopia | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C3714509 | Nutrition Disorders | ACE | 1636 | angiotensin I converting enzyme | P12821 |
