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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 |
|---|---|---|---|---|---|
| C0021364 | Male infertility | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0021364 | Male infertility | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0021364 | Male infertility | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0021359 | Infertility | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0021359 | Infertility | KL | 9365 | klotho | Q9UEF7 |
| C0021359 | Infertility | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C0021359 | Infertility | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0021359 | Infertility | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0021359 | Infertility | PLCZ1 | 89869 | phospholipase C zeta 1 | Q86YW0 |
| C0021359 | Infertility | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C0021345 | Infectious Mononucleosis | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0021345 | Infectious Mononucleosis | KLRD1 | 3824 | killer cell lectin like receptor D1 | Q13241 |
| C0021313 | Infection of kidney | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0021313 | Infection of kidney | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0021313 | Infection of kidney | SFTPD | 6441 | surfactant protein D | P35247 |
| C0021171 | Bloch Sulzberger syndrome | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0021171 | Bloch Sulzberger syndrome | CD38 | 952 | CD38 molecule | P28907 |
| C0021171 | Bloch Sulzberger syndrome | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0021171 | Bloch Sulzberger syndrome | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0021151 | Incipient Schizophrenia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0021141 | Inappropriate ADH Syndrome | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0021141 | Inappropriate ADH Syndrome | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0021122 | Disruptive, Impulse Control, and Conduct Disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0021122 | Disruptive, Impulse Control, and Conduct Disorders | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0021122 | Disruptive, Impulse Control, and Conduct Disorders | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
