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 ▲ |
---|---|---|---|---|---|
C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C1384666 | hearing impairment | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0007194 | Hypertrophic Cardiomyopathy | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0020555 | Hypertrichosis | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0018798 | Congenital Heart Defects | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0018802 | Congestive heart failure | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0015934 | Fetal Growth Retardation | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0025958 | Microcephaly | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0005697 | Neurogenic Urinary Bladder | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0003873 | Rheumatoid Arthritis | HTD2 | 109703458 | hydroxyacyl-thioester dehydratase type 2 | P86397 |
C0036341 | Schizophrenia | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0700095 | Central neuroblastoma | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0795907 | CONOTRUNCAL ANOMALY FACE SYNDROME | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C3714756 | Intellectual Disability | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0011849 | Diabetes Mellitus | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0012236 | DiGeorge Syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0018818 | Ventricular Septal Defects | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0018798 | Congenital Heart Defects | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0033770 | Prune Belly Syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C1321551 | Shprintzen-Goldberg syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0027819 | Neuroblastoma | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0027651 | Neoplasms | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0220704 | Shprintzen syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C1456784 | Paranoia | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C1720830 | Painful Bladder Syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
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Last updated: August 19, 2024