Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Acidosis, Lactic PDHA1 phenotype C0001125 CausalMutation 0.43 disgenet
Acidosis, Lactic PDHA1 phenotype C0001125 GeneticVariation 0.43 disgenet
Acidosis, Lactic PDHA1 phenotype C0001125 Biomarker 0.43 disgenet
Acidosis, Lactic RRM2B phenotype C0001125 Biomarker 0.4 disgenet
Acidosis, Lactic TRNL1 phenotype C0001125 Biomarker 0.4 disgenet
Acidosis, Lactic DNM1L phenotype C0001125 Biomarker 0.4 disgenet
Acidosis, Lactic ATAD3A phenotype C0001125 Biomarker 0.3 disgenet
Acidosis, Lactic PLAT phenotype C0001125 Therapeutic 0.3 disgenet
Acidosis, Lactic ND6 phenotype C0001125 Biomarker 0.3 disgenet
Acidosis, Lactic CYTB phenotype C0001125 Biomarker 0.14 disgenet
Acidosis, Lactic ACAD9 phenotype C0001125 GeneticVariation 0.14 disgenet
Acidosis, Lactic CYTB phenotype C0001125 GeneticVariation 0.14 disgenet
Acidosis, Lactic ACAD9 phenotype C0001125 Biomarker 0.14 disgenet
Acidosis, Lactic PDP1 phenotype C0001125 GeneticVariation 0.13 disgenet
Acidosis, Lactic POLG phenotype C0001125 GeneticVariation 0.13 disgenet
Acidosis, Lactic POLG phenotype C0001125 Biomarker 0.13 disgenet
Acidosis, Lactic MTO1 phenotype C0001125 GeneticVariation 0.13 orphanet , disgenet
Acidosis, Lactic PDP1 phenotype C0001125 Biomarker 0.13 disgenet
Acidosis, Lactic MTO1 phenotype C0001125 Biomarker 0.13 orphanet , disgenet
Acidosis, Lactic RMND1 phenotype C0001125 GeneticVariation 0.12 disgenet
Acidosis, Lactic ISCU phenotype C0001125 GeneticVariation 0.12 disgenet
Acidosis, Lactic RMND1 phenotype C0001125 Biomarker 0.12 disgenet
Acidosis, Lactic COX1 phenotype C0001125 Biomarker 0.12 disgenet
Acidosis, Lactic SCO2 phenotype C0001125 Biomarker 0.12 disgenet
Acidosis, Lactic SCO2 phenotype C0001125 GeneticVariation 0.12 disgenet
Acidosis, Lactic PC phenotype C0001125 CausalMutation 0.12 disgenet
Acidosis, Lactic ISCU phenotype C0001125 Biomarker 0.12 disgenet
Acidosis, Lactic BCS1L phenotype C0001125 Biomarker 0.12 disgenet
Acidosis, Lactic PC phenotype C0001125 GeneticVariation 0.12 disgenet
Acidosis, Lactic ND1 phenotype C0001125 Biomarker 0.12 disgenet
Acidosis, Lactic COX1 phenotype C0001125 GeneticVariation 0.12 disgenet
Acidosis, Lactic ND1 phenotype C0001125 GeneticVariation 0.12 disgenet
Acidosis, Lactic ATP5F1E phenotype C0001125 Biomarker 0.12 disgenet
Acidosis, Lactic BCS1L phenotype C0001125 GeneticVariation 0.12 disgenet
Acidosis, Lactic PC phenotype C0001125 Biomarker 0.12 disgenet
Acidosis, Lactic ATP5F1E phenotype C0001125 GeneticVariation 0.12 disgenet
Acidosis, Lactic SUCLA2 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic TMEM70 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic FBXL4 phenotype C0001125 GeneticVariation 0.11 disgenet
Acidosis, Lactic SUCLA2 phenotype C0001125 AlteredExpression 0.11 disgenet
Acidosis, Lactic DLD phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic COQ9 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic ELAC2 phenotype C0001125 GeneticVariation 0.11 disgenet
Acidosis, Lactic IBA57 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic TRMT10C phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic FBXL4 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic COQ9 phenotype C0001125 GeneticVariation 0.11 disgenet
Acidosis, Lactic EXOSC9 phenotype C0001125 GeneticVariation 0.11 disgenet
Acidosis, Lactic TRMT10C phenotype C0001125 GeneticVariation 0.11 disgenet
Acidosis, Lactic NDUFB11 phenotype C0001125 GeneticVariation 0.11 disgenet
Acidosis, Lactic LIPT1 phenotype C0001125 GeneticVariation 0.11 disgenet
Acidosis, Lactic EXOSC9 phenotype C0001125 CausalMutation 0.11 disgenet
Acidosis, Lactic SLC25A3 phenotype C0001125 Biomarker 0.11 orphanet , disgenet
Acidosis, Lactic WARS2 phenotype C0001125 GeneticVariation 0.11 disgenet
Acidosis, Lactic HADHA phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic KARS1 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic TMEM70 phenotype C0001125 GeneticVariation 0.11 disgenet
Acidosis, Lactic NDUFS4 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic ELAC2 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic NDUFB11 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic TUFM phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic LIPT1 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic SLC37A4 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic EARS2 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic MRPS14 phenotype C0001125 GeneticVariation 0.11 disgenet
Acidosis, Lactic ND4 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic SURF1 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic MRPS14 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic EARS2 phenotype C0001125 GeneticVariation 0.11 disgenet
Acidosis, Lactic KARS1 phenotype C0001125 CausalMutation 0.11 disgenet
Acidosis, Lactic WARS2 phenotype C0001125 Biomarker 0.11 disgenet
Acidosis, Lactic ND4 phenotype C0001125 GeneticVariation 0.11 disgenet
Acidosis, Lactic SDHA phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic HADHB phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic PDHB phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic CHAT phenotype C0001125 CausalMutation 0.1 disgenet
Acidosis, Lactic NDUFS6 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFS2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic ND5 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TRNC phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TRNH phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TRNT phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic SLC25A42 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic MICOS13 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic PHKA2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TRNS1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFA6 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFS8 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic LIPT2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic BOLA3 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TK2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic MPC1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic COQ8A phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFA10 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFS7 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFB3 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TANGO2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TYMP phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NAXE phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic COX10 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFS1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic MRPS7 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic SLC3A1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFAF5 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic PUS1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TACO1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic SLC25A4 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TIMMDC1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic SLC25A13 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic SCO1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic PNPLA8 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFV1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic PCCA phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic YARS2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NUBPL phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFAF4 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic COX3 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic BCKDHA phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic ATPAF2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TMEM126B phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic COA8 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic ATP5F1D phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TRNS2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic SUCLG1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic DLAT phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic HADH phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic LIAS phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic AARS2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFV2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TPK1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFAF6 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TRNQ phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFAF2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic CYC1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic GFER phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic COQ2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic CAMKMT phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic PET100 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic COX20 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFA1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic ND3 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic MRPS34 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic DGUOK phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic GTPBP3 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic ALDOB phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic LARS2 phenotype C0001125 Biomarker 0.1 orphanet , disgenet
Acidosis, Lactic NDUFAF3 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TRMU phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic UQCC3 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic LYRM7 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TRNV phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic PPM1B phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFAF1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic LRPPRC phenotype C0001125 Biomarker 0.1 orphanet , disgenet
Acidosis, Lactic LYRM4 phenotype C0001125 Biomarker 0.1 orphanet , disgenet
Acidosis, Lactic FARS2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic PREPL phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic G6PC phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NFU1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic SERAC1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic PCK1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFA11 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic UQCRFS1 phenotype C0001125 CausalMutation 0.1 disgenet
Acidosis, Lactic CA5A phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic MRPS16 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic MLYCD phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic ETHE1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic PHKG2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TRNW phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TANGO2 phenotype C0001125 CausalMutation 0.1 disgenet
Acidosis, Lactic COX14 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFB9 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic USP18 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic COX8A phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic HSD17B10 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TSFM phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic LARS1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic MPV17 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFS3 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic DBT phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic COA6 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic SLC25A19 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic FASTKD2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic AGK phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic FH phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic COX15 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TRNF phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TIMM50 phenotype C0001125 CausalMutation 0.1 disgenet
Acidosis, Lactic PCCB phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic MIPEP phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic ND2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic PDHX phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic BCKDHB phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic NDUFB10 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic COX2 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic SFXN4 phenotype C0001125 Biomarker 0.1 orphanet , disgenet
Acidosis, Lactic TRNK phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TRNN phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic FOXRED1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic COX6B1 phenotype C0001125 Biomarker 0.1 disgenet
Acidosis, Lactic TFAM phenotype C0001125 AlteredExpression 0.02 disgenet
Acidosis, Lactic TFAM phenotype C0001125 Biomarker 0.02 disgenet
Acidosis, Lactic HSPA5 phenotype C0001125 AlteredExpression 0.02 disgenet
Acidosis, Lactic HSPA5 phenotype C0001125 Biomarker 0.02 disgenet
Acidosis, Lactic TXNIP phenotype C0001125 Biomarker 0.02 disgenet
Acidosis, Lactic TXNIP phenotype C0001125 AlteredExpression 0.02 disgenet
Acidosis, Lactic MB phenotype C0001125 AlteredExpression 0.02 disgenet
Acidosis, Lactic MB phenotype C0001125 Biomarker 0.02 disgenet
Acidosis, Lactic VARS2 phenotype C0001125 GeneticVariation 0.01 disgenet
Acidosis, Lactic MEHMO phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic SI phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic TNF phenotype C0001125 GeneticVariation 0.01 disgenet
Acidosis, Lactic LINC01194 phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic PTGS1 phenotype C0001125 GeneticVariation 0.01 disgenet
Acidosis, Lactic MAP2K7 phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic ECHS1 phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic FBP1 phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic IL10 phenotype C0001125 GeneticVariation 0.01 disgenet
Acidosis, Lactic IL6 phenotype C0001125 AlteredExpression 0.01 disgenet
Acidosis, Lactic PTBP1 phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic ALDH7A1 phenotype C0001125 GeneticVariation 0.01 disgenet
Acidosis, Lactic NDUFA5 phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic MGAM phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic OPA1 phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic ABCB6 phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic SLC47A1 phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic UQCRB phenotype C0001125 GeneticVariation 0.01 disgenet
Acidosis, Lactic UQCRQ phenotype C0001125 GeneticVariation 0.01 disgenet
Acidosis, Lactic AQP9 phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic SLC5A2 phenotype C0001125 GeneticVariation 0.01 disgenet
Acidosis, Lactic GSTZ1 phenotype C0001125 GeneticVariation 0.01 disgenet
Acidosis, Lactic ALB phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic TRS-AGA2-3 phenotype C0001125 GeneticVariation 0.01 disgenet
Acidosis, Lactic SRSF2 phenotype C0001125 AlteredExpression 0.01 disgenet
Acidosis, Lactic CA2 phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic ARRDC4 phenotype C0001125 AlteredExpression 0.01 disgenet
Acidosis, Lactic RNPS1 phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic ZDHHC13 phenotype C0001125 AlteredExpression 0.01 disgenet
Acidosis, Lactic UQCC2 phenotype C0001125 GeneticVariation 0.01 disgenet
Acidosis, Lactic MET phenotype C0001125 GeneticVariation 0.01 disgenet
Acidosis, Lactic MRPS22 phenotype C0001125 GeneticVariation 0.01 disgenet
Acidosis, Lactic ATF4 phenotype C0001125 AlteredExpression 0.01 disgenet
Acidosis, Lactic RPS6KA3 phenotype C0001125 GeneticVariation 0.01 disgenet
Acidosis, Lactic TTR phenotype C0001125 Biomarker 0.01 disgenet
Acidosis, Lactic NFS1 NA C0001125 NA NA orphanet
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