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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 ▲ |
|---|---|---|---|---|---|
| C0027051 | Myocardial Infarction | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C0006142 | Malignant neoplasm of breast | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C1332977 | Childhood Leukemia | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C0003850 | Arteriosclerosis | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C0029463 | Osteosarcoma | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C0018801 | Heart failure | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C0032285 | Pneumonia | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C2239176 | Liver carcinoma | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C0585442 | Osteosarcoma of bone | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C3714636 | Pneumonitis | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C1306459 | Primary malignant neoplasm | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C0004153 | Atherosclerosis | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C1332986 | Childhood Osteosarcoma | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C0018802 | Congestive heart failure | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C0011884 | Diabetic Retinopathy | B4GALT2 | 8704 | beta-1,4-galactosyltransferase 2 | O60909 |
| C0007873 | Uterine Cervical Neoplasm | B4GALT2 | 8704 | beta-1,4-galactosyltransferase 2 | O60909 |
| C1263846 | Attention deficit hyperactivity disorder | B4GALT2 | 8704 | beta-1,4-galactosyltransferase 2 | O60909 |
| C0009402 | Colorectal Carcinoma | B4GALT2 | 8704 | beta-1,4-galactosyltransferase 2 | O60909 |
| C2931187 | Nephropathic cystinosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C4316899 | Cystinosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0268626 | Juvenile nephropathic cystinosis (disorder) | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0015624 | Fanconi Syndrome | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C2931013 | Cystinosis, benign, nonnephropathic | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0235946 | Cerebral atrophy | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0085078 | Lysosomal Storage Diseases | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
