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 9476 - 9500 of 62743 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Gene Name UniProt ID
C0033847 Pseudoxanthoma Elasticum APRT 353 adenine phosphoribosyltransferase P07741
C0033847 Pseudoxanthoma Elasticum ENPP1 5167 ectonucleotide pyrophosphatase/phosphodiesterase 1 P22413
C0033847 Pseudoxanthoma Elasticum ALPL 249 alkaline phosphatase, biomineralization associated P05186
C0033847 Pseudoxanthoma Elasticum ICAM1 3383 intercellular adhesion molecule 1 P05362
C0033847 Pseudoxanthoma Elasticum NT5E 4907 5'-nucleotidase ecto P21589
C0033847 Pseudoxanthoma Elasticum SELE 6401 selectin E P16581
C0033847 Pseudoxanthoma Elasticum SELP 6403 selectin P P16109
C0033847 Pseudoxanthoma Elasticum SELL 6402 selectin L P14151
C0033847 Pseudoxanthoma Elasticum ALDH7A1 501 aldehyde dehydrogenase 7 family member A1 P49419
C0033847 Pseudoxanthoma Elasticum PKD1 5310 polycystin 1, transient receptor potential channel interacting P98161
C0033845 Pseudotumor Cerebri PARP4 143 poly(ADP-ribose) polymerase family member 4 Q9UKK3
C0033845 Pseudotumor Cerebri ENO2 2026 enolase 2 P09104
C0033845 Pseudotumor Cerebri PTEN 5728 phosphatase and tensin homolog P60484
C0033835 Pseudopseudohypoparathyroidism ASAH1 427 N-acylsphingosine amidohydrolase 1 Q13510
C0033835 Pseudopseudohypoparathyroidism APRT 353 adenine phosphoribosyltransferase P07741
C0086873 Pseudopelade PARP1 142 poly(ADP-ribose) polymerase 1 P09874
C0086873 Pseudopelade FAR2 55711 fatty acyl-CoA reductase 2 Q96K12
C0086873 Pseudopelade SRD5A2 6716 steroid 5 alpha-reductase 2 P31213
C0033822 Pseudomyxoma Peritonei FUT8 2530 fucosyltransferase 8 Q9BYC5
C0033822 Pseudomyxoma Peritonei SMUG1 23583 single-strand-selective monofunctional uracil-DNA glycosylase 1 Q53HV7
C0033822 Pseudomyxoma Peritonei CEACAM5 1048 CEA cell adhesion molecule 5 P06731
C0033822 Pseudomyxoma Peritonei PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C0033822 Pseudomyxoma Peritonei PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0033822 Pseudomyxoma Peritonei CEACAM7 1087 CEA cell adhesion molecule 7 Q14002
C0033822 Pseudomyxoma Peritonei PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338

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Last updated: August 19, 2024