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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 |
|---|---|---|---|---|---|
| C3665347 | Visual Impairment | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C3665347 | Visual Impairment | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C3665347 | Visual Impairment | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C3665347 | Visual Impairment | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C3665347 | Visual Impairment | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C3665347 | Visual Impairment | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C3665347 | Visual Impairment | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C3665347 | Visual Impairment | LSS | 4047 | lanosterol synthase | P48449 |
| C3665347 | Visual Impairment | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C3665347 | Visual Impairment | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C3665347 | Visual Impairment | PRNP | 5621 | prion protein | F7VJQ1 |
| C3665347 | Visual Impairment | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C3665347 | Visual Impairment | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0270824 | Visual seizure | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0270824 | Visual seizure | ENO2 | 2026 | enolase 2 | P09104 |
| C0270824 | Visual seizure | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0270824 | Visual seizure | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0270824 | Visual seizure | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0270824 | Visual seizure | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0270824 | Visual seizure | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0270824 | Visual seizure | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0270824 | Visual seizure | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0270824 | Visual seizure | CAT | 847 | catalase | P04040 |
| C0270824 | Visual seizure | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0270824 | Visual seizure | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
