Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Congenital Disorders of Glycosylation PMM2 group C0282577 CausalMutation 0.5 disgenet
Congenital Disorders of Glycosylation PMM2 group C0282577 GeneticVariation 0.5 disgenet
Congenital Disorders of Glycosylation PMM2 group C0282577 Biomarker 0.5 disgenet
Congenital Disorders of Glycosylation PMM2 group C0282577 AlteredExpression 0.5 disgenet
Congenital Disorders of Glycosylation SRD5A3 group C0282577 GeneticVariation 0.47 disgenet
Congenital Disorders of Glycosylation SRD5A3 group C0282577 Biomarker 0.47 disgenet
Congenital Disorders of Glycosylation MPI group C0282577 Biomarker 0.4 disgenet
Congenital Disorders of Glycosylation MPI group C0282577 AlteredExpression 0.4 disgenet
Congenital Disorders of Glycosylation MPI group C0282577 GeneticVariation 0.4 disgenet
Congenital Disorders of Glycosylation SLC35A2 group C0282577 Biomarker 0.39 disgenet
Congenital Disorders of Glycosylation SLC35A2 group C0282577 GeneticVariation 0.39 disgenet
Congenital Disorders of Glycosylation MOGS group C0282577 GeneticVariation 0.36 disgenet
Congenital Disorders of Glycosylation MOGS group C0282577 Biomarker 0.36 disgenet
Congenital Disorders of Glycosylation DPM1 group C0282577 Biomarker 0.33 disgenet
Congenital Disorders of Glycosylation DOLK group C0282577 GeneticVariation 0.33 disgenet
Congenital Disorders of Glycosylation DPM1 group C0282577 GeneticVariation 0.33 disgenet
Congenital Disorders of Glycosylation DOLK group C0282577 Biomarker 0.33 disgenet
Congenital Disorders of Glycosylation SLC35A1 group C0282577 GeneticVariation 0.32 disgenet
Congenital Disorders of Glycosylation SLC35A1 group C0282577 Biomarker 0.32 disgenet
Congenital Disorders of Glycosylation MPDU1 group C0282577 GeneticVariation 0.32 disgenet
Congenital Disorders of Glycosylation MPDU1 group C0282577 Biomarker 0.32 disgenet
Congenital Disorders of Glycosylation FCSK group C0282577 Biomarker 0.3 disgenet
Congenital Disorders of Glycosylation ALG1 group C0282577 Biomarker 0.17 disgenet
Congenital Disorders of Glycosylation ALG1 group C0282577 GeneticVariation 0.17 disgenet
Congenital Disorders of Glycosylation ALG1 group C0282577 CausalMutation 0.17 disgenet
Congenital Disorders of Glycosylation MAGT1 group C0282577 GeneticVariation 0.13 disgenet
Congenital Disorders of Glycosylation MAGT1 group C0282577 Biomarker 0.13 disgenet
Congenital Disorders of Glycosylation MAGT1 group C0282577 CausalMutation 0.13 disgenet
Congenital Disorders of Glycosylation SRD5A3-AS1 group C0282577 GeneticVariation 0.1 disgenet
Congenital Disorders of Glycosylation TMEM165 group C0282577 GeneticVariation 0.1 disgenet
Congenital Disorders of Glycosylation TMEM165 group C0282577 Biomarker 0.1 disgenet
Congenital Disorders of Glycosylation PGM1 group C0282577 GeneticVariation 0.09 disgenet
Congenital Disorders of Glycosylation PGM1 group C0282577 Biomarker 0.09 disgenet
Congenital Disorders of Glycosylation ALG6 group C0282577 Biomarker 0.07 disgenet
Congenital Disorders of Glycosylation COG8 group C0282577 GeneticVariation 0.07 disgenet
Congenital Disorders of Glycosylation ALG6 group C0282577 GeneticVariation 0.07 disgenet
Congenital Disorders of Glycosylation COG8 group C0282577 Biomarker 0.07 disgenet
Congenital Disorders of Glycosylation ALG3 group C0282577 Biomarker 0.06 disgenet
Congenital Disorders of Glycosylation COG6 group C0282577 Biomarker 0.06 disgenet
Congenital Disorders of Glycosylation ALG3 group C0282577 GeneticVariation 0.06 disgenet
Congenital Disorders of Glycosylation COG6 group C0282577 GeneticVariation 0.06 disgenet
Congenital Disorders of Glycosylation PGM3 group C0282577 Biomarker 0.05 disgenet
Congenital Disorders of Glycosylation ALG9 group C0282577 GeneticVariation 0.05 disgenet
Congenital Disorders of Glycosylation ALG9 group C0282577 Biomarker 0.05 disgenet
Congenital Disorders of Glycosylation ALG8 group C0282577 Biomarker 0.05 disgenet
Congenital Disorders of Glycosylation ALG8 group C0282577 GeneticVariation 0.05 disgenet
Congenital Disorders of Glycosylation PGM3 group C0282577 GeneticVariation 0.05 disgenet
Congenital Disorders of Glycosylation DPAGT1 group C0282577 GeneticVariation 0.05 disgenet
Congenital Disorders of Glycosylation MAN1B1 group C0282577 GeneticVariation 0.05 disgenet
Congenital Disorders of Glycosylation DPAGT1 group C0282577 Biomarker 0.05 disgenet
Congenital Disorders of Glycosylation MAN1B1 group C0282577 Biomarker 0.05 disgenet
Congenital Disorders of Glycosylation COG5 group C0282577 GeneticVariation 0.04 disgenet
Congenital Disorders of Glycosylation COG5 group C0282577 Biomarker 0.04 disgenet
Congenital Disorders of Glycosylation COG7 group C0282577 Biomarker 0.04 disgenet
Congenital Disorders of Glycosylation COG7 group C0282577 GeneticVariation 0.04 disgenet
Congenital Disorders of Glycosylation MGAT2 group C0282577 GeneticVariation 0.04 disgenet
Congenital Disorders of Glycosylation APOC3 group C0282577 Biomarker 0.04 disgenet
Congenital Disorders of Glycosylation ALG12 group C0282577 Biomarker 0.04 disgenet
Congenital Disorders of Glycosylation DPM3 group C0282577 GeneticVariation 0.03 disgenet
Congenital Disorders of Glycosylation DPM3 group C0282577 Biomarker 0.03 disgenet
Congenital Disorders of Glycosylation SLC35C1 group C0282577 Biomarker 0.03 disgenet
Congenital Disorders of Glycosylation SERPINA1 group C0282577 Biomarker 0.03 disgenet
Congenital Disorders of Glycosylation SLC35C1 group C0282577 GeneticVariation 0.03 disgenet
Congenital Disorders of Glycosylation CD47 group C0282577 Biomarker 0.02 disgenet
Congenital Disorders of Glycosylation STT3B group C0282577 GeneticVariation 0.02 disgenet
Congenital Disorders of Glycosylation SLC39A8 group C0282577 Biomarker 0.02 disgenet
Congenital Disorders of Glycosylation GOLPH3 group C0282577 Biomarker 0.02 disgenet
Congenital Disorders of Glycosylation MAN1A1 group C0282577 GeneticVariation 0.02 disgenet
Congenital Disorders of Glycosylation CD47 group C0282577 GeneticVariation 0.02 disgenet
Congenital Disorders of Glycosylation LEMD3 group C0282577 Biomarker 0.02 disgenet
Congenital Disorders of Glycosylation GOLPH3 group C0282577 AlteredExpression 0.02 disgenet
Congenital Disorders of Glycosylation ATP6V0A2 group C0282577 Biomarker 0.02 disgenet
Congenital Disorders of Glycosylation STT3B group C0282577 Biomarker 0.02 disgenet
Congenital Disorders of Glycosylation IAPP group C0282577 GeneticVariation 0.02 disgenet
Congenital Disorders of Glycosylation MAN1A1 group C0282577 Biomarker 0.02 disgenet
Congenital Disorders of Glycosylation ALPP group C0282577 GeneticVariation 0.02 disgenet
Congenital Disorders of Glycosylation IAPP group C0282577 Biomarker 0.02 disgenet
Congenital Disorders of Glycosylation ALG11 group C0282577 Biomarker 0.02 disgenet
Congenital Disorders of Glycosylation DHDDS group C0282577 Biomarker 0.02 disgenet
Congenital Disorders of Glycosylation ALG11 group C0282577 GeneticVariation 0.02 disgenet
Congenital Disorders of Glycosylation STT3A group C0282577 GeneticVariation 0.02 disgenet
Congenital Disorders of Glycosylation RFT1 group C0282577 Biomarker 0.02 disgenet
Congenital Disorders of Glycosylation ALPP group C0282577 Biomarker 0.02 disgenet
Congenital Disorders of Glycosylation LEMD3 group C0282577 GeneticVariation 0.02 disgenet
Congenital Disorders of Glycosylation ALPI group C0282577 GeneticVariation 0.02 disgenet
Congenital Disorders of Glycosylation RFT1 group C0282577 GeneticVariation 0.02 disgenet
Congenital Disorders of Glycosylation ATP6V0A2 group C0282577 GeneticVariation 0.02 disgenet
Congenital Disorders of Glycosylation ALPI group C0282577 Biomarker 0.02 disgenet
Congenital Disorders of Glycosylation APRT group C0282577 AlteredExpression 0.01 disgenet
Congenital Disorders of Glycosylation ALG13 group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation HP group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation GRIN3A group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation FUT8 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation AGA group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation DCN group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation BCHE group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation ITGB2 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation DLD group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation GPI group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation ALG2 group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation MFAP1 group C0282577 AlteredExpression 0.01 disgenet
Congenital Disorders of Glycosylation NUS1 group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation POFUT2 group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation AKR1B1 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation PGAP3 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation TUSC3 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation PYCR1 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation DDOST group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation SI group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation IGF1 group C0282577 AlteredExpression 0.01 disgenet
Congenital Disorders of Glycosylation F11 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation ST3GAL3 group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation SSR3 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation TF group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation SSR4 group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation RXYLT1 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation COG2 group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation ST3GAL5 group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation LAD1 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation SLC35A3 group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation PGR-AS1 group C0282577 AlteredExpression 0.01 disgenet
Congenital Disorders of Glycosylation RAB1A group C0282577 AlteredExpression 0.01 disgenet
Congenital Disorders of Glycosylation ATXN3 group C0282577 AlteredExpression 0.01 disgenet
Congenital Disorders of Glycosylation DAG1 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation TRAPPC11 group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation GFM1 group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation NUS1P3 group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation CCDC115 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation ATP6AP1 group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation DPM2 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation SERPINC1 group C0282577 AlteredExpression 0.01 disgenet
Congenital Disorders of Glycosylation BGN group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation CSGALNACT1 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation FXN group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation MGAM group C0282577 GeneticVariation 0.01 disgenet
Congenital Disorders of Glycosylation PGAP1 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation B4GALT1 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation RNASE4 group C0282577 AlteredExpression 0.01 disgenet
Congenital Disorders of Glycosylation APOB group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation LAMP2 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation SERPINA6 group C0282577 AlteredExpression 0.01 disgenet
Congenital Disorders of Glycosylation IGFBP5 group C0282577 AlteredExpression 0.01 disgenet
Congenital Disorders of Glycosylation LAMP1 group C0282577 Biomarker 0.01 disgenet
Congenital Disorders of Glycosylation SLC26A3 group C0282577 AlteredExpression 0.01 disgenet
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