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
Displaying entries 53701 - 53725 of 62743 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Gene Name UniProt ID
C0270790 Quadriparesis GLB1 2720 galactosidase beta 1 P16278
C0270790 Quadriparesis GBE1 2632 1,4-alpha-glucan branching enzyme 1 Q04446
C0270790 Quadriparesis PNP 4860 purine nucleoside phosphorylase P00491
C0034372 Quadriplegia ARSA 410 arylsulfatase A P15289
C0034372 Quadriplegia RPE 6120 ribulose-5-phosphate-3-epimerase Q96AT9
C0034372 Quadriplegia ALDH3A2 224 aldehyde dehydrogenase 3 family member A2 P51648
C0034372 Quadriplegia PRPS1 5631 phosphoribosyl pyrophosphate synthetase 1 P60891
C1785148 RAPP-HODGKIN SYNDROME DHCR7 1717 7-dehydrocholesterol reductase Q9UBM7
C0751772 REM Sleep Behavior Disorder GBA 2629 glucosylceramidase beta P04062
C0751772 REM Sleep Behavior Disorder SMUG1 23583 single-strand-selective monofunctional uracil-DNA glycosylase 1 Q53HV7
C0751772 REM Sleep Behavior Disorder PRNP 5621 prion protein P04156
C0751772 REM Sleep Behavior Disorder PAFAH1B1 5048 platelet activating factor acetylhydrolase 1b regulatory subunit 1 P43034
C0751772 REM Sleep Behavior Disorder PRNP 5621 prion protein F7VJQ1
C1619700 RENAL ADYSPLASIA FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C1864849 RETINAL CONE DYSTROPHY 4 CACNA2D4 93589 calcium voltage-gated channel auxiliary subunit alpha2delta 4 Q7Z3S7
C0220701 RETINITIS PIGMENTOSA 1 KL 9365 klotho Q9UEF7
C0220701 RETINITIS PIGMENTOSA 1 PTEN 5728 phosphatase and tensin homolog P60484
C1845667 RETINITIS PIGMENTOSA 3 COG4 25839 component of oligomeric golgi complex 4 Q9H9E3
C3151227 RETINITIS PIGMENTOSA 59 DHDDS 79947 dehydrodolichyl diphosphate synthase subunit Q86SQ9
C4225287 RETINITIS PIGMENTOSA 73 HGSNAT 138050 heparan-alpha-glucosaminide N-acetyltransferase Q68CP4
C1867300 RETINITIS PIGMENTOSA 9 LPIN1 23175 lipin 1 Q14693
C3714753 RETINOSCHISIS 1, X-LINKED, JUVENILE SLC5A1 6523 solute carrier family 5 member 1 P13866
C3714753 RETINOSCHISIS 1, X-LINKED, JUVENILE PAFAH1B1 5048 platelet activating factor acetylhydrolase 1b regulatory subunit 1 P43034
C1859133 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 HSD17B4 3295 hydroxysteroid 17-beta dehydrogenase 4 P51659
C0034494 Rabies (disorder) FUT2 2524 fucosyltransferase 2 Q10981

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Last updated: August 19, 2024