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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 |
|---|---|---|---|---|---|
| C0010278 | Craniosynostosis | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0010278 | Craniosynostosis | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0010278 | Craniosynostosis | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0010278 | Craniosynostosis | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0010278 | Craniosynostosis | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0010278 | Craniosynostosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0010278 | Craniosynostosis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0010278 | Craniosynostosis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0010278 | Craniosynostosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0010278 | Craniosynostosis | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0010278 | Craniosynostosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0010278 | Craniosynostosis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| 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 |
| C0010314 | Cri-du-Chat Syndrome | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0010314 | Cri-du-Chat Syndrome | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C0010324 | Crigler Najjar syndrome, type 1 | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0010324 | Crigler Najjar syndrome, type 1 | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0010324 | Crigler Najjar syndrome, type 1 | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0010324 | Crigler Najjar syndrome, type 1 | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0010324 | Crigler Najjar syndrome, type 1 | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
