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 |
---|---|---|---|---|---|
C0036857 | Severe intellectual disability | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
C0494475 | Tonic - clonic seizures | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
C0025958 | Microcephaly | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
C0038379 | Strabismus | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
C0003811 | Cardiac Arrhythmia | ALG10 | 84920 | ALG10 alpha-1,2-glucosyltransferase | Q5BKT4 |
C0023976 | Long QT Syndrome | ALG10 | 84920 | ALG10 alpha-1,2-glucosyltransferase | Q5BKT4 |
C3150943 | Long Qt Syndrome 2 | ALG10 | 84920 | ALG10 alpha-1,2-glucosyltransferase | Q5BKT4 |
C0019196 | Hepatitis C | ALG10 | 84920 | ALG10 alpha-1,2-glucosyltransferase | Q5BKT4 |
C0376358 | Malignant neoplasm of prostate | SLC35B4 | 84912 | solute carrier family 35 member B4 | Q969S0 |
C0024623 | Malignant neoplasm of stomach | SLC35B4 | 84912 | solute carrier family 35 member B4 | Q969S0 |
C0699791 | Stomach Carcinoma | SLC35B4 | 84912 | solute carrier family 35 member B4 | Q969S0 |
C0600139 | Prostate carcinoma | SLC35B4 | 84912 | solute carrier family 35 member B4 | Q969S0 |
C0006142 | Malignant neoplasm of breast | TMTC4 | 84899 | transmembrane O-mannosyltransferase targeting cadherins 4 | Q5T4D3 |
C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | TMTC4 | 84899 | transmembrane O-mannosyltransferase targeting cadherins 4 | Q5T4D3 |
C0265221 | Walker-Warburg congenital muscular dystrophy | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
C0017601 | Glaucoma | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
C3714756 | Intellectual Disability | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
C0010964 | Dandy-Walker Syndrome | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
C0020255 | Hydrocephalus | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
C0266544 | Microcornea | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
C0036572 | Seizures | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
C3553813 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
C0241005 | Creatine phosphokinase serum increased | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
C0010417 | Cryptorchidism | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
C0026850 | Muscular Dystrophy | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024