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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 |
|---|---|---|---|---|---|
| C1844853 | Brachytelephalangic Chondrodysplasia Punctata | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C1844853 | Brachytelephalangic Chondrodysplasia Punctata | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1845052 | AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1845055 | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1845055 | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1845076 | Lymphoproliferative Syndrome, X-Linked, 2 | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C1845076 | Lymphoproliferative Syndrome, X-Linked, 2 | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
| C1845076 | Lymphoproliferative Syndrome, X-Linked, 2 | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C1845167 | Dent Disease 2 | INPP5B | 3633 | inositol polyphosphate-5-phosphatase B | P32019 |
| C1845167 | Dent Disease 2 | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1845359 | Spinal Muscular Atrophy, Distal, X-Linked 3 | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C1845526 | Mental Retardation, X-Linked 46 | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C1845543 | Mental Retardation, X-Linked, with Epilepsy | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1845667 | RETINITIS PIGMENTOSA 3 | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C1845672 | Mental Retardation, X-Linked 63 | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C1845862 | Creatine deficiency, X-linked | CALR | 811 | calreticulin | P27797 |
| C1845892 | Lesch-Nyhan Syndrome, Neurologic Variant | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C1846009 | Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C1846142 | HOYERAAL-HREIDARSSON SYNDROME | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C1846175 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C1846223 | Adrenal hypoplasia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C1846357 | Meckel syndrome type 3 | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C1846564 | SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C1846647 | DEAFNESS, AUTOSOMAL RECESSIVE (disorder) | OTOA | 146183 | otoancorin | Q7RTW8 |
| C1846672 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I | FKRP | 79147 | fukutin related protein | Q9H9S5 |
