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
Displaying entries 59201 - 59225 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Gene Name UniProt ID
C0020676 Hypothyroidism PLOD3 8985 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 O60568
C0036439 Scoliosis, unspecified PLOD3 8985 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 O60568
C0014527 Epidermolysis Bullosa PLOD3 8985 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 O60568
C0017636 Glioblastoma PLOD3 8985 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 O60568
C0006826 Malignant Neoplasms PLOD3 8985 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 O60568
C0268524 gamma-Glutamyltransferase deficiency PLOD3 8985 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 O60568
C0079298 Epidermolysis Bullosa Simplex PLOD3 8985 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 O60568
C2239176 Liver carcinoma PLOD3 8985 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 O60568
C0600139 Prostate carcinoma SIGLEC12 89858 sialic acid binding Ig like lectin 12 (gene/pseudogene) Q96PQ1
C0028754 Obesity SIGLEC12 89858 sialic acid binding Ig like lectin 12 (gene/pseudogene) Q96PQ1
C0024141 Lupus Erythematosus, Systemic SIGLEC12 89858 sialic acid binding Ig like lectin 12 (gene/pseudogene) Q96PQ1
C0007097 Carcinoma SIGLEC12 89858 sialic acid binding Ig like lectin 12 (gene/pseudogene) Q96PQ1
C0015674 Chronic Fatigue Syndrome SIGLEC12 89858 sialic acid binding Ig like lectin 12 (gene/pseudogene) Q96PQ1
C0025517 Metabolic Diseases SIGLEC12 89858 sialic acid binding Ig like lectin 12 (gene/pseudogene) Q96PQ1
C0010674 Cystic Fibrosis PLCZ1 89869 phospholipase C zeta 1 Q86YW0
C4310666 SPERMATOGENIC FAILURE 17 PLCZ1 89869 phospholipase C zeta 1 Q86YW0
C0919267 ovarian neoplasm PLCZ1 89869 phospholipase C zeta 1 Q86YW0
C0021359 Infertility PLCZ1 89869 phospholipase C zeta 1 Q86YW0
C0342751 Generalized glycogen storage disease of infants STBD1 8987 starch binding domain 1 O95210
C0017921 Glycogen storage disease type II STBD1 8987 starch binding domain 1 O95210
C0030567 Parkinson Disease STBD1 8987 starch binding domain 1 O95210
C0023467 Leukemia, Myelocytic, Acute GLB1L2 89944 galactosidase beta 1 like 2 Q8IW92
C0152013 Adenocarcinoma of lung (disorder) HS6ST2 90161 heparan sulfate 6-O-sulfotransferase 2 Q96MM7
C0024623 Malignant neoplasm of stomach HS6ST2 90161 heparan sulfate 6-O-sulfotransferase 2 Q96MM7
C3714756 Intellectual Disability HS6ST2 90161 heparan sulfate 6-O-sulfotransferase 2 Q96MM7

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