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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 ▲ |
|---|---|---|---|---|---|
| C3714756 | Intellectual Disability | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0266551 | Congenital coloboma of iris | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C3553813 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0010417 | Cryptorchidism | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0241005 | Creatine phosphokinase serum increased | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0025958 | Microcephaly | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0376358 | Malignant neoplasm of prostate | KLRG2 | 346689 | killer cell lectin like receptor G2 | A4D1S0 |
| C0005586 | Bipolar Disorder | SLC35F4 | 341880 | solute carrier family 35 member F4 | A4IF30 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | SLC35F4 | 341880 | solute carrier family 35 member F4 | A4IF30 |
| C0027651 | Neoplasms | IZUMO1R | 390243 | IZUMO1 receptor, JUNO | A6ND01 |
| C0027651 | Neoplasms | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0042900 | Vitiligo | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0024299 | Lymphoma | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0023473 | Myeloid Leukemia, Chronic | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0678222 | Breast Carcinoma | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0023467 | Leukemia, Myelocytic, Acute | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0011581 | Depressive disorder | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C1458155 | Mammary Neoplasms | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0553580 | Ewings sarcoma | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0338106 | Adenocarcinoma of colon | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0023418 | leukemia | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0011570 | Mental Depression | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0023448 | Lymphoid leukemia | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
