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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 |
|---|---|---|---|---|---|
| C1853118 | Severe congenital neutropenia | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C1853118 | Severe congenital neutropenia | CD33 | 945 | CD33 molecule | P20138 |
| C1853118 | Severe congenital neutropenia | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C1853118 | Severe congenital neutropenia | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C1853099 | Cornelia de Lange Syndrome 3 | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1852767 | Hereditary macular coloboma | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1852557 | CORNEA PLANA 1 | DCN | 1634 | decorin | P07585 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | FKTN | 2218 | fukutin | O75072 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | LGALS4 | 3960 | galectin 4 | P56470 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | ENO1 | 2023 | enolase 1 | P06733 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | ENO2 | 2026 | enolase 2 | P09104 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
