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 13401 - 13425 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0013336 Dwarfism PCCB 5096 propionyl-CoA carboxylase subunit beta P05166
C0013336 Dwarfism PIK3C2A 5286 phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha O00443
C0013336 Dwarfism INPP5K 51763 inositol polyphosphate-5-phosphatase K Q9BT40
C0013336 Dwarfism SMPD3 55512 sphingomyelin phosphodiesterase 3 Q9NY59
C0013336 Dwarfism PNPLA2 57104 patatin like phospholipase domain containing 2 Q96AD5
C0013336 Dwarfism SDHC 6391 succinate dehydrogenase complex subunit C Q99643
C0013336 Dwarfism SDHB 6390 succinate dehydrogenase complex iron sulfur subunit B P21912
C0013336 Dwarfism SDHD 6392 succinate dehydrogenase complex subunit D O14521
C0013336 Dwarfism SLC39A8 64116 solute carrier family 39 member 8 Q9C0K1
C0013336 Dwarfism SLC2A2 6514 solute carrier family 2 member 2 P11168
C0013336 Dwarfism SULT2B1 6820 sulfotransferase family 2B member 1 O00204
C0013336 Dwarfism VCAM1 7412 vascular cell adhesion molecule 1 P19320
C0013336 Dwarfism DHDDS 79947 dehydrodolichyl diphosphate synthase subunit Q86SQ9
C0013336 Dwarfism SYNJ1 8867 synaptojanin 1 O43426
C0013336 Dwarfism SUCLA2 8803 succinate-CoA ligase ADP-forming subunit beta Q9P2R7
C0013336 Dwarfism HACD1 9200 3-hydroxyacyl-CoA dehydratase 1 B0YJ81
C0013336 Dwarfism SLC35A2 7355 solute carrier family 35 member A2 P78381
C0013336 Dwarfism G6PC 2538 glucose-6-phosphatase catalytic subunit P35575
C0013336 Dwarfism GCK 2645 glucokinase P35557
C0013336 Dwarfism GK 2710 glycerol kinase P32189
C0013336 Dwarfism GPC3 2719 glypican 3 P51654
C0013336 Dwarfism GPD1 2819 glycerol-3-phosphate dehydrogenase 1 P21695
C0013336 Dwarfism HSPG2 3339 heparan sulfate proteoglycan 2 P98160
C0013336 Dwarfism IDH2 3418 isocitrate dehydrogenase (NADP(+)) 2 P48735
C0013336 Dwarfism ATP6V1A 523 ATPase H+ transporting V1 subunit A P38606

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Last updated: August 19, 2024