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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 ▲ |
|---|---|---|---|---|---|
| C0021051 | Immunologic Deficiency Syndromes | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C0282528 | Peroxisomal Disorders | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C1336905 | Endometrial Endometrioid Adenocarcinoma | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C1134719 | Invasive Ductal Breast Carcinoma | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C0042133 | Uterine Fibroids | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C0040100 | Thymoma | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C0040128 | Thyroid Diseases | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C0266483 | Pachygyria | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0085583 | Choreoathetosis | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0000768 | Congenital Abnormality | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0494475 | Tonic - clonic seizures | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C4539843 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0034013 | Precocious Puberty | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0036572 | Seizures | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C1720189 | Episodic Ataxia | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0013080 | Down Syndrome | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0376358 | Malignant neoplasm of prostate | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C4552072 | X-linked infantile spasms | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0025958 | Microcephaly | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0038379 | Strabismus | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0033578 | Prostatic Neoplasms | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0041960 | Ureterocele | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C1306503 | Congenital exomphalos | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0234398 | Visual Cortex Disorder | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
