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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 |
|---|---|---|---|---|---|
| C0220668 | Congenital contractural arachnodactyly | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0220668 | Congenital contractural arachnodactyly | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0220668 | Congenital contractural arachnodactyly | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C0220668 | Congenital contractural arachnodactyly | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0220668 | Congenital contractural arachnodactyly | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0220668 | Congenital contractural arachnodactyly | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0220668 | Congenital contractural arachnodactyly | EFNA1 | 1942 | ephrin A1 | P20827 |
| C0220668 | Congenital contractural arachnodactyly | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0220668 | Congenital contractural arachnodactyly | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C0220668 | Congenital contractural arachnodactyly | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0220668 | Congenital contractural arachnodactyly | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0220668 | Congenital contractural arachnodactyly | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0220668 | Congenital contractural arachnodactyly | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0220668 | Congenital contractural arachnodactyly | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0220668 | Congenital contractural arachnodactyly | ANXA5 | 308 | annexin A5 | P08758 |
| C0220668 | Congenital contractural arachnodactyly | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0220668 | Congenital contractural arachnodactyly | LGALS3 | 3958 | galectin 3 | P17931 |
| C0220668 | Congenital contractural arachnodactyly | LGALS1 | 3956 | galectin 1 | P09382 |
| C0220668 | Congenital contractural arachnodactyly | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0220668 | Congenital contractural arachnodactyly | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0220668 | Congenital contractural arachnodactyly | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0220668 | Congenital contractural arachnodactyly | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0220668 | Congenital contractural arachnodactyly | RECK | 8434 | reversion inducing cysteine rich protein with kazal motifs | O95980 |
| C0220668 | Congenital contractural arachnodactyly | CAT | 847 | catalase | P04040 |
| C0220668 | Congenital contractural arachnodactyly | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
