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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 |
|---|---|---|---|---|---|
| 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 |
| C1852557 | CORNEA PLANA 1 | DCN | 1634 | decorin | P07585 |
| C1852767 | Hereditary macular coloboma | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1853099 | Cornelia de Lange Syndrome 3 | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1853118 | Severe congenital neutropenia | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| 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 |
| C1853124 | NEPHROTIC SYNDROME, TYPE 3 | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C1853137 | BRACHYDACTYLY-SYNDACTYLY SYNDROME | MBOAT1 | 154141 | membrane bound O-acyltransferase domain containing 1 | Q6ZNC8 |
| C1853195 | Prostate Cancer, Hereditary, 7 | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C1853195 | Prostate Cancer, Hereditary, 7 | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C1853195 | Prostate Cancer, Hereditary, 7 | SIGLEC1 | 6614 | sialic acid binding Ig like lectin 1 | Q9BZZ2 |
| C1853195 | Prostate Cancer, Hereditary, 7 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
