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 53826 - 53850 of 62743 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Gene Name UniProt ID
C0034885 Rectal Neoplasms NTHL1 4913 nth like DNA glycosylase 1 P78549
C0034885 Rectal Neoplasms PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0034885 Rectal Neoplasms CYP2E1 1571 cytochrome P450 family 2 subfamily E member 1 P05181
C0034885 Rectal Neoplasms HMGCS2 3158 3-hydroxy-3-methylglutaryl-CoA synthase 2 P54868
C0034885 Rectal Neoplasms PTGS2 5743 prostaglandin-endoperoxide synthase 2 P35354
C0034885 Rectal Neoplasms SDHA 6389 succinate dehydrogenase complex flavoprotein subunit A P31040
C0034888 Rectal Prolapse PTEN 5728 phosphatase and tensin homolog P60484
C0750977 Recurrent Brain Neoplasm MRC1 4360 mannose receptor C-type 1 P22897
C0750977 Recurrent Brain Neoplasm CYP2C9 1559 cytochrome P450 family 2 subfamily C member 9 P11712
C2937365 Recurrent aphthous ulcer VCAM1 7412 vascular cell adhesion molecule 1 P19320
C0155119 Recurrent erosion of cornea CHST6 4166 carbohydrate sulfotransferase 6 Q9GZX3
C0155119 Recurrent erosion of cornea CTNS 1497 cystinosin, lysosomal cystine transporter O60931
C3714772 Recurrent fevers GALC 2581 galactosylceramidase P54803
C3714772 Recurrent fevers LPIN2 9663 lipin 2 Q92539
C3714772 Recurrent fevers CYP11B2 1585 cytochrome P450 family 11 subfamily B member 2 P19099
C3714772 Recurrent fevers CYP21A2 1589 cytochrome P450 family 21 subfamily A member 2 P08686
C3887641 Recurrent hepatitis ACE 1636 angiotensin I converting enzyme P12821
C0154409 Recurrent major depressive episodes ACE 1636 angiotensin I converting enzyme P12821
C0748607 Recurrent seizure PIGW 284098 phosphatidylinositol glycan anchor biosynthesis class W Q7Z7B1
C0748607 Recurrent seizure SMUG1 23583 single-strand-selective monofunctional uracil-DNA glycosylase 1 Q53HV7
C0748607 Recurrent seizure INPP5K 51763 inositol polyphosphate-5-phosphatase K Q9BT40
C0748607 Recurrent seizure PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C0748607 Recurrent seizure PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0748607 Recurrent seizure ALDH7A1 501 aldehyde dehydrogenase 7 family member A1 P49419
C0748607 Recurrent seizure PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338

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Last updated: August 19, 2024