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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 |
|---|---|---|---|---|---|
| C3714636 | Pneumonitis | MPPE1 | 65258 | metallophosphoesterase 1 | Q53F39 |
| C3714636 | Pneumonitis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C3714618 | Primary Hyperthyroidism | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C3714618 | Primary Hyperthyroidism | CAT | 847 | catalase | P04040 |
| C3714581 | Multicystic Dysplastic Kidney | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C3714581 | Multicystic Dysplastic Kidney | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C3714581 | Multicystic Dysplastic Kidney | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C3714581 | Multicystic Dysplastic Kidney | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C3714581 | Multicystic Dysplastic Kidney | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C3714581 | Multicystic Dysplastic Kidney | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3714581 | Multicystic Dysplastic Kidney | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C3714581 | Multicystic Dysplastic Kidney | GPC3 | 2719 | glypican 3 | P51654 |
| C3714581 | Multicystic Dysplastic Kidney | CYP4A11 | 1579 | cytochrome P450 family 4 subfamily A member 11 | Q02928 |
| C3714581 | Multicystic Dysplastic Kidney | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C3714581 | Multicystic Dysplastic Kidney | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C3714542 | Lymphoma, Diffuse | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C3714542 | Lymphoma, Diffuse | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C3714542 | Lymphoma, Diffuse | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C3714534 | dowling-degos disease | POFUT1 | 23509 | protein O-fucosyltransferase 1 | Q9H488 |
| C3714534 | dowling-degos disease | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C3714534 | dowling-degos disease | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C3714534 | dowling-degos disease | ACAN | 176 | aggrecan | P16112 |
| C3714534 | dowling-degos disease | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C3714524 | Fibromyxosarcoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C3714524 | Fibromyxosarcoma | DCN | 1634 | decorin | P07585 |
