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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 ▼ |
|---|---|---|---|---|---|
| C0006142 | Malignant neoplasm of breast | HKDC1 | 80201 | hexokinase domain containing 1 | Q2TB90 |
| C3714756 | Intellectual Disability | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C0038379 | Strabismus | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C3150913 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C0036439 | Scoliosis, unspecified | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C0282577 | Congenital Disorders of Glycosylation | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C1384666 | hearing impairment | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C0025521 | Inborn Errors of Metabolism | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C0025958 | Microcephaly | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C0235946 | Cerebral atrophy | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C0036572 | Seizures | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C0006826 | Malignant Neoplasms | PARP6 | 56965 | poly(ADP-ribose) polymerase family member 6 | Q2NL67 |
| C0009402 | Colorectal Carcinoma | PARP6 | 56965 | poly(ADP-ribose) polymerase family member 6 | Q2NL67 |
| C1306459 | Primary malignant neoplasm | PARP6 | 56965 | poly(ADP-ribose) polymerase family member 6 | Q2NL67 |
| C0678222 | Breast Carcinoma | PARP6 | 56965 | poly(ADP-ribose) polymerase family member 6 | Q2NL67 |
| C0006142 | Malignant neoplasm of breast | PARP6 | 56965 | poly(ADP-ribose) polymerase family member 6 | Q2NL67 |
| C0027651 | Neoplasms | PARP6 | 56965 | poly(ADP-ribose) polymerase family member 6 | Q2NL67 |
| C1319315 | Adenocarcinoma of large intestine | PARP6 | 56965 | poly(ADP-ribose) polymerase family member 6 | Q2NL67 |
| C1510502 | Oxyphilic Adenoma | HYAL4 | 23553 | hyaluronidase 4 | Q2M3T9 |
| C0949541 | Hurthle Cell Tumor | HYAL4 | 23553 | hyaluronidase 4 | Q2M3T9 |
| C0011570 | Mental Depression | SLC35G1 | 159371 | solute carrier family 35 member G1 | Q2M3R5 |
| C0600139 | Prostate carcinoma | SLC35G1 | 159371 | solute carrier family 35 member G1 | Q2M3R5 |
| C0344315 | Depressed mood | SLC35G1 | 159371 | solute carrier family 35 member G1 | Q2M3R5 |
| C0009402 | Colorectal Carcinoma | SLC35G1 | 159371 | solute carrier family 35 member G1 | Q2M3R5 |
| C0011847 | Diabetes | SLC35G1 | 159371 | solute carrier family 35 member G1 | Q2M3R5 |
