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 4101 - 4125 of 62743 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Gene Name UniProt ID
C1848201 Subcortical Band Heterotopia ATRNL1 26033 attractin like 1 Q5VV63
C1848201 Subcortical Band Heterotopia PAFAH1B1 5048 platelet activating factor acetylhydrolase 1b regulatory subunit 1 P43034
C1848201 Subcortical Band Heterotopia OCRL 4952 OCRL inositol polyphosphate-5-phosphatase Q01968
C0040149 Subacute thyroiditis GUSB 2990 glucuronidase beta P08236
C0040149 Subacute thyroiditis SMUG1 23583 single-strand-selective monofunctional uracil-DNA glycosylase 1 Q53HV7
C0038522 Subacute Sclerosing Panencephalitis PGM3 5238 phosphoglucomutase 3 O95394
C0038522 Subacute Sclerosing Panencephalitis SDC1 6382 syndecan 1 P18827
C0038522 Subacute Sclerosing Panencephalitis CD38 952 CD38 molecule P28907
C0038522 Subacute Sclerosing Panencephalitis ACE 1636 angiotensin I converting enzyme P12821
C0038522 Subacute Sclerosing Panencephalitis GLO1 2739 glyoxalase I Q04760
C0014122 Subacute Bacterial Endocarditis GPX1 2876 glutathione peroxidase 1 P07203
C0014122 Subacute Bacterial Endocarditis AGXT 189 alanine--glyoxylate and serine--pyruvate aminotransferase P21549
C0546953 Subacromial bursitis PTGS2 5743 prostaglandin-endoperoxide synthase 2 P35354
C0751529 Stuttering, Developmental CYP19A1 1588 cytochrome P450 family 19 subfamily A member 1 P11511
C0038506 Stuttering DPAGT1 1798 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Q9H3H5
C0038506 Stuttering GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0038506 Stuttering NAGPA 51172 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Q9UK23
C0038506 Stuttering GNPTG 84572 N-acetylglucosamine-1-phosphate transferase subunit gamma Q9UJJ9
C0038506 Stuttering DLD 1738 dihydrolipoamide dehydrogenase P09622
C0038506 Stuttering PTGDS 5730 prostaglandin D2 synthase P41222
C0038505 Sturge-Weber Syndrome PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0038505 Sturge-Weber Syndrome ACHE 43 acetylcholinesterase (Cartwright blood group) P22303
C0038505 Sturge-Weber Syndrome PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C0038505 Sturge-Weber Syndrome PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0038505 Sturge-Weber Syndrome CYP2B6 1555 cytochrome P450 family 2 subfamily B member 6 P20813

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Last updated: August 19, 2024