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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 |
|---|---|---|---|---|---|
| C0028968 | Olivopontocerebellar Atrophies | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1848745 | Oliver-McFarlane syndrome | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C1848745 | Oliver-McFarlane syndrome | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0403810 | Oligosynaptic Infertility | PDHA2 | 5161 | pyruvate dehydrogenase E1 subunit alpha 2 | P29803 |
| C0028960 | Oligospermia | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0028960 | Oligospermia | PGAM1 | 5223 | phosphoglycerate mutase 1 | P18669 |
| C0028960 | Oligospermia | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0028960 | Oligospermia | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0028960 | Oligospermia | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0028960 | Oligospermia | ANXA5 | 308 | annexin A5 | P08758 |
| C0028960 | Oligospermia | LCT | 3938 | lactase | P09848 |
| C0028960 | Oligospermia | STS | 412 | steroid sulfatase | P08842 |
| C0028960 | Oligospermia | SRGN | 5552 | serglycin | P10124 |
| C0028960 | Oligospermia | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C0028960 | Oligospermia | TEX101 | 83639 | testis expressed 101 | Q9BY14 |
| C0028960 | Oligospermia | LDHC | 3948 | lactate dehydrogenase C | P07864 |
| C0028960 | Oligospermia | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0028960 | Oligospermia | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0178426 | Oligohydramnios sequence | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0079924 | Oligohydramnios | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0079924 | Oligohydramnios | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0079924 | Oligohydramnios | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0079924 | Oligohydramnios | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0079924 | Oligohydramnios | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0079924 | Oligohydramnios | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
