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 9326 - 9350 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C1261470 Congenital meningocele POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C1261470 Congenital meningocele LFNG 3955 LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Q8NES3
C1261470 Congenital meningocele POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C1261470 Congenital meningocele FKRP 79147 fukutin related protein Q9H9S5
C1261470 Congenital meningocele LARGE1 9215 LARGE xylosyl- and glucuronyltransferase 1 O95461
C1261470 Congenital meningocele GMPPB 29925 GDP-mannose pyrophosphorylase B Q9Y5P6
C1261470 Congenital meningocele SC5D 6309 sterol-C5-desaturase O75845
C1260899 Anemia, Diamond-Blackfan CD38 952 CD38 molecule P28907
C1260881 Allergic bronchitis PLB1 151056 phospholipase B1 Q6P1J6
C1260881 Allergic bronchitis PLA2G2A 5320 phospholipase A2 group IIA P14555
C1260881 Allergic bronchitis PLA2G10 8399 phospholipase A2 group X O15496
C1260881 Allergic bronchitis PLA2G4A 5321 phospholipase A2 group IVA P47712
C1260881 Allergic bronchitis PLA2G1B 5319 phospholipase A2 group IB P04054
C1260880 Rhinorrhea SDHD 6392 succinate dehydrogenase complex subunit D O14521
C1260873 Aortic valve disorder ENPP1 5167 ectonucleotide pyrophosphatase/phosphodiesterase 1 P22413
C1260873 Aortic valve disorder KL 9365 klotho Q9UEF7
C1260873 Aortic valve disorder ACAN 176 aggrecan P16112
C1260873 Aortic valve disorder STS 412 steroid sulfatase P08842
C1260873 Aortic valve disorder NT5E 4907 5'-nucleotidase ecto P21589
C1260873 Aortic valve disorder PLPP3 8613 phospholipid phosphatase 3 O14495
C1260873 Aortic valve disorder PLA2G7 7941 phospholipase A2 group VII Q13093
C1260402 Splenic sequestration SCD 6319 stearoyl-CoA desaturase O00767
C1260396 Alpha thalassemia intermedia PC 5091 pyruvate carboxylase P11498
C1260386 Glucocorticoid-remediable aldosteronism AKR1A1 10327 aldo-keto reductase family 1 member A1 P14550
C1260386 Glucocorticoid-remediable aldosteronism GPX1 2876 glutathione peroxidase 1 P07203

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Last updated: August 19, 2024