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 4276 - 4300 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C1862939 AMYOTROPHIC LATERAL SCLEROSIS 1 ALPI 248 alkaline phosphatase, intestinal P09923
C1862939 AMYOTROPHIC LATERAL SCLEROSIS 1 GPX1 2876 glutathione peroxidase 1 P07203
C1862939 AMYOTROPHIC LATERAL SCLEROSIS 1 CAT 847 catalase P04040
C1862939 AMYOTROPHIC LATERAL SCLEROSIS 1 INPP4B 8821 inositol polyphosphate-4-phosphatase type II B O15327
C1862939 AMYOTROPHIC LATERAL SCLEROSIS 1 ACACA 31 acetyl-CoA carboxylase alpha Q13085
C1862939 AMYOTROPHIC LATERAL SCLEROSIS 1 OPCML 4978 opioid binding protein/cell adhesion molecule like Q14982
C1862939 AMYOTROPHIC LATERAL SCLEROSIS 1 MASP1 5648 mannan binding lectin serine peptidase 1 P48740
C1862839 Anterior segment mesenchymal dysgenesis CYP1B1 1545 cytochrome P450 family 1 subfamily B member 1 Q16678
C1862596 Familial hypobetalipoproteinemia EFNA5 1946 ephrin A5 P52803
C1862596 Familial hypobetalipoproteinemia PLA2G7 7941 phospholipase A2 group VII Q13093
C1862389 ATRIAL SEPTAL DEFECT 1 B3GLCT 145173 beta 3-glucosyltransferase Q6Y288
C1862389 ATRIAL SEPTAL DEFECT 1 COMT 1312 catechol-O-methyltransferase P21964
C1862389 ATRIAL SEPTAL DEFECT 1 CAT 847 catalase P04040
C1862389 ATRIAL SEPTAL DEFECT 1 CYP1B1 1545 cytochrome P450 family 1 subfamily B member 1 Q16678
C1862389 ATRIAL SEPTAL DEFECT 1 CYP2E1 1571 cytochrome P450 family 2 subfamily E member 1 P05181
C1862389 ATRIAL SEPTAL DEFECT 1 CYP11B2 1585 cytochrome P450 family 11 subfamily B member 2 P19099
C1862389 ATRIAL SEPTAL DEFECT 1 ARSD 414 arylsulfatase D P51689
C1862389 ATRIAL SEPTAL DEFECT 1 PCYT1A 5130 phosphate cytidylyltransferase 1, choline, alpha P49585
C1862389 ATRIAL SEPTAL DEFECT 1 PTEN 5728 phosphatase and tensin homolog P60484
C1862382 SVEINSSON CHORIORETINAL ATROPHY IDS 3423 iduronate 2-sulfatase P22304
C1862382 SVEINSSON CHORIORETINAL ATROPHY ENO2 2026 enolase 2 P09104
C1862382 SVEINSSON CHORIORETINAL ATROPHY IGF2R 3482 insulin like growth factor 2 receptor P11717
C1862382 SVEINSSON CHORIORETINAL ATROPHY RPE 6120 ribulose-5-phosphate-3-epimerase Q96AT9
C1862382 SVEINSSON CHORIORETINAL ATROPHY GAD1 2571 glutamate decarboxylase 1 Q99259
C1862382 SVEINSSON CHORIORETINAL ATROPHY MRC1 4360 mannose receptor C-type 1 P22897

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Last updated: August 19, 2024