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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 |
|---|---|---|---|---|---|
| C3887662 | Intraspinal Neoplasm | ARSA | 410 | arylsulfatase A | P15289 |
| C3887662 | Intraspinal Neoplasm | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C3887662 | Intraspinal Neoplasm | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C3887662 | Intraspinal Neoplasm | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C3887650 | Adult Rickets | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C3887650 | Adult Rickets | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C3887650 | Adult Rickets | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C3887650 | Adult Rickets | PHOSPHO1 | 162466 | phosphoethanolamine/phosphocholine phosphatase 1 | Q8TCT1 |
| C3887650 | Adult Rickets | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C3887650 | Adult Rickets | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C3887650 | Adult Rickets | RGN | 9104 | regucalcin | Q15493 |
| C3887650 | Adult Rickets | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C3887650 | Adult Rickets | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C3887645 | Job Syndrome | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C3887645 | Job Syndrome | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C3887645 | Job Syndrome | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C3887641 | Recurrent hepatitis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3887639 | Autoimmune gastritis | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C3887608 | HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C3887608 | HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C3887558 | Hemophagocytic Syndrome | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C3887551 | Memory dysfunction | FUT10 | 84750 | fucosyltransferase 10 | Q6P4F1 |
| C3887551 | Memory dysfunction | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C3887551 | Memory dysfunction | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C3887551 | Memory dysfunction | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
