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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 |
|---|---|---|---|---|---|
| C1868683 | B-CELL MALIGNANCY, LOW-GRADE | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1868683 | B-CELL MALIGNANCY, LOW-GRADE | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1868683 | B-CELL MALIGNANCY, LOW-GRADE | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C1868682 | Paroxysmal kinesigenic choreoathetosis | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1868679 | GRISCELLI SYNDROME, TYPE 2 | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C1868678 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | CD38 | 952 | CD38 molecule | P28907 |
| C1868678 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1868678 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C1868675 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1868675 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1868675 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C1868675 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | CNTN5 | 53942 | contactin 5 | O94779 |
| C1868675 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C1868672 | NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C1868653 | Pancreatitis, Calcific | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C1868633 | Paragangliomas with Sensorineural Hearing Loss | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C1868598 | PARIETAL FORAMINA | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C1868598 | PARIETAL FORAMINA | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C1868598 | PARIETAL FORAMINA | QTRT1 | 81890 | queuine tRNA-ribosyltransferase catalytic subunit 1 | Q9BXR0 |
| C1868598 | PARIETAL FORAMINA | CAT | 847 | catalase | P04040 |
| C1868596 | Atypical Parkinson Disease | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C1868594 | Perry Syndrome | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C1868193 | PNEUMOTHORAX, PRIMARY SPONTANEOUS | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C1868112 | Crossed Polydactyly, Type I | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1868112 | Crossed Polydactyly, Type I | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
