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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 |
| C2752042 | Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1332965 | Congenital Mesoblastic Nephroma | GPC3 | 2719 | glypican 3 | P51654 |
| C0751883 | Congenital Myasthenic Syndromes, Postsynaptic | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0751883 | Congenital Myasthenic Syndromes, Postsynaptic | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751883 | Congenital Myasthenic Syndromes, Postsynaptic | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0751883 | Congenital Myasthenic Syndromes, Postsynaptic | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0751883 | Congenital Myasthenic Syndromes, Postsynaptic | AGRN | 375790 | agrin | O00468 |
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | AGRN | 375790 | agrin | O00468 |
| C0677501 | Congenital Nephrogenic Diabetes Insipidus | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | STS | 412 | steroid sulfatase | P08842 |
| C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | SULT2B1 | 6820 | sulfotransferase family 2B member 1 | O00204 |
