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 ▼ |
---|---|---|---|---|---|
C0018816 | Heart Septal Defects | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
C4552003 | EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
C0392476 | Epiphyseal dysplasia | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
C0013336 | Dwarfism | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
C0018818 | Ventricular Septal Defects | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
C0013581 | Ectopia Lentis | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
C0027092 | Myopia | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
C0029456 | Osteoporosis | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
C0008354 | Cholera | ART5 | 116969 | ADP-ribosyltransferase 5 | Q96L15 |
C0086543 | Cataract | CALR3 | 125972 | calreticulin 3 | Q96L12 |
C0878544 | Cardiomyopathies | CALR3 | 125972 | calreticulin 3 | Q96L12 |
C0007194 | Hypertrophic Cardiomyopathy | CALR3 | 125972 | calreticulin 3 | Q96L12 |
C0042900 | Vitiligo | CALR3 | 125972 | calreticulin 3 | Q96L12 |
C3495498 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | CALR3 | 125972 | calreticulin 3 | Q96L12 |
C0002395 | Alzheimer's Disease | LYZL4 | 131375 | lysozyme like 4 | Q96KX0 |
C0002170 | Alopecia | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
C0011615 | Dermatitis, Atopic | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
C0086873 | Pseudopelade | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
C0022658 | Kidney Diseases | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
C0013595 | Eczema | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
C1561643 | Chronic Kidney Diseases | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
C0006142 | Malignant neoplasm of breast | ST6GAL2 | 84620 | ST6 beta-galactoside alpha-2,6-sialyltransferase 2 | Q96JF0 |
C0014859 | Esophageal Neoplasms | ST6GAL2 | 84620 | ST6 beta-galactoside alpha-2,6-sialyltransferase 2 | Q96JF0 |
C0206682 | Follicular thyroid carcinoma | ST6GAL2 | 84620 | ST6 beta-galactoside alpha-2,6-sialyltransferase 2 | Q96JF0 |
C1869123 | Limb-girdle muscular dystrophy type 2A | COG3 | 83548 | component of oligomeric golgi complex 3 | Q96JB2 |
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