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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 |
|---|---|---|---|---|---|
| C0038015 | Spondyloepiphyseal Dysplasia | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0038015 | Spondyloepiphyseal Dysplasia | CD38 | 952 | CD38 molecule | P28907 |
| C0038015 | Spondyloepiphyseal Dysplasia | ACAN | 176 | aggrecan | P16112 |
| C0038015 | Spondyloepiphyseal Dysplasia | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C1864872 | Spondyloepimetaphyseal dysplasia, Genevieve type | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C2748515 | Spondyloepimetaphyseal Dysplasia, Pakistani Type | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C2748516 | Spondylodysplasia And Premature Pubarche | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0038012 | Spondylitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0038012 | Spondylitis | VCAN | 1462 | versican | P13611 |
| C0038012 | Spondylitis | ACAN | 176 | aggrecan | P16112 |
| C0038012 | Spondylitis | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0949691 | Spondylarthropathies | ENO1 | 2023 | enolase 1 | P06733 |
| C0949691 | Spondylarthropathies | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
| C0949691 | Spondylarthropathies | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0949691 | Spondylarthropathies | VCAN | 1462 | versican | P13611 |
| C0949691 | Spondylarthropathies | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0949691 | Spondylarthropathies | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0949691 | Spondylarthropathies | ACAN | 176 | aggrecan | P16112 |
| C0949691 | Spondylarthropathies | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0949691 | Spondylarthropathies | CD14 | 929 | CD14 molecule | P08571 |
| C0949691 | Spondylarthropathies | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0949691 | Spondylarthropathies | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0949690 | Spondylarthritis | ENO1 | 2023 | enolase 1 | P06733 |
| C0949690 | Spondylarthritis | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
| C0949690 | Spondylarthritis | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
