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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 |
|---|---|---|---|---|---|
| C0010308 | Congenital Hypothyroidism | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0010308 | Congenital Hypothyroidism | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0010308 | Congenital Hypothyroidism | ENO2 | 2026 | enolase 2 | P09104 |
| C0010308 | Congenital Hypothyroidism | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0010308 | Congenital Hypothyroidism | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0010308 | Congenital Hypothyroidism | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0010278 | Craniosynostosis | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0010278 | Craniosynostosis | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0010278 | Craniosynostosis | ARSA | 410 | arylsulfatase A | P15289 |
| C0010278 | Craniosynostosis | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0010278 | Craniosynostosis | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0010278 | Craniosynostosis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0010278 | Craniosynostosis | LYZ | 4069 | lysozyme | P61626 |
| C0010278 | Craniosynostosis | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0010278 | Craniosynostosis | SDC1 | 6382 | syndecan 1 | P18827 |
| C0010278 | Craniosynostosis | IL1RL2 | 8808 | interleukin 1 receptor like 2 | Q9HB29 |
| C0010278 | Craniosynostosis | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C0010278 | Craniosynostosis | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0010278 | Craniosynostosis | ACSL3 | 2181 | acyl-CoA synthetase long chain family member 3 | O95573 |
| C0010278 | Craniosynostosis | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0010278 | Craniosynostosis | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0010278 | Craniosynostosis | ANXA7 | 310 | annexin A7 | P20073 |
| C0010278 | Craniosynostosis | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0010278 | Craniosynostosis | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0010278 | Craniosynostosis | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
