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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 |
|---|---|---|---|---|---|
| C0011334 | Dental caries | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0011334 | Dental caries | MTMR3 | 8897 | myotubularin related protein 3 | Q13615 |
| C0518988 | Dental abscess | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0043154 | Dental White Spot | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C1527284 | Dental Pulp Stone | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0026618 | Dental Fluorosis, Acquired | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0026618 | Dental Fluorosis, Acquired | ACAN | 176 | aggrecan | P16112 |
| C0026618 | Dental Fluorosis, Acquired | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0026618 | Dental Fluorosis, Acquired | MMP25 | 64386 | matrix metallopeptidase 25 | Q9NPA2 |
| C0011351 | Dental Enamel Hypoplasia | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0011351 | Dental Enamel Hypoplasia | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0011351 | Dental Enamel Hypoplasia | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0011351 | Dental Enamel Hypoplasia | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0011351 | Dental Enamel Hypoplasia | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0011351 | Dental Enamel Hypoplasia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0011351 | Dental Enamel Hypoplasia | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0878681 | Dent's disease | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0878681 | Dent's disease | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0878681 | Dent's disease | CLC | 1178 | Charcot-Leyden crystal galectin | Q05315 |
| C0878681 | Dent's disease | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1848336 | Dent disease 1 | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1845167 | Dent Disease 2 | INPP5B | 3633 | inositol polyphosphate-5-phosphatase B | P32019 |
| C1845167 | Dent Disease 2 | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0376300 | Dengue Shock Syndrome | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0376300 | Dengue Shock Syndrome | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
