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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 |
|---|---|---|---|---|---|
| C3714756 | Intellectual Disability | IL1RAP | 3556 | interleukin 1 receptor accessory protein | Q9NPH3 |
| C3714756 | Intellectual Disability | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C3714756 | Intellectual Disability | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C3714756 | Intellectual Disability | MAN2C1 | 4123 | mannosidase alpha class 2C member 1 | Q9NTJ4 |
| C3714756 | Intellectual Disability | PC | 5091 | pyruvate carboxylase | P11498 |
| C3714756 | Intellectual Disability | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C3714756 | Intellectual Disability | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C3714756 | Intellectual Disability | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C3714756 | Intellectual Disability | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C3714756 | Intellectual Disability | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C3714756 | Intellectual Disability | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C3714756 | Intellectual Disability | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C3714756 | Intellectual Disability | ENOSF1 | 55556 | enolase superfamily member 1 | Q7L5Y1 |
| C3714756 | Intellectual Disability | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C3714756 | Intellectual Disability | CALR | 811 | calreticulin | P27797 |
| C3714756 | Intellectual Disability | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C3714756 | Intellectual Disability | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C3714756 | Intellectual Disability | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C3714756 | Intellectual Disability | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C3714756 | Intellectual Disability | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C3714756 | Intellectual Disability | CD38 | 952 | CD38 molecule | P28907 |
| C3714756 | Intellectual Disability | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C3714756 | Intellectual Disability | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C3714756 | Intellectual Disability | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C3714756 | Intellectual Disability | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
