Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Niemann-Pick Disease, Type C NPC1 disease C0220756 GeneticVariation 0.9 orphanet , disgenet
Niemann-Pick Disease, Type C NPC1 disease C0220756 Biomarker 0.9 orphanet , disgenet
Niemann-Pick Disease, Type C NPC1 disease C0220756 CausalMutation 0.9 orphanet , disgenet
Niemann-Pick Disease, Type C NPC1 disease C0220756 AlteredExpression 0.9 orphanet , disgenet
Niemann-Pick Disease, Type C LIPA disease C0220756 Therapeutic 0.3 disgenet
Niemann-Pick Disease, Type C NPC2 disease C0220756 Biomarker 0.2 orphanet , disgenet
Niemann-Pick Disease, Type C NPC2 disease C0220756 GeneticVariation 0.2 orphanet , disgenet
Niemann-Pick Disease, Type C NPC2 disease C0220756 AlteredExpression 0.2 orphanet , disgenet
Niemann-Pick Disease, Type C NPC2 disease C0220756 CausalMutation 0.2 orphanet , disgenet
Niemann-Pick Disease, Type C PDLIM7 disease C0220756 AlteredExpression 0.1 disgenet
Niemann-Pick Disease, Type C PDLIM7 disease C0220756 Biomarker 0.1 disgenet
Niemann-Pick Disease, Type C APP disease C0220756 AlteredExpression 0.07 disgenet
Niemann-Pick Disease, Type C APP disease C0220756 Biomarker 0.07 disgenet
Niemann-Pick Disease, Type C SMPD1 disease C0220756 GeneticVariation 0.05 disgenet
Niemann-Pick Disease, Type C SMPD1 disease C0220756 Biomarker 0.05 disgenet
Niemann-Pick Disease, Type C ABCA1 disease C0220756 Biomarker 0.04 disgenet
Niemann-Pick Disease, Type C ABCA1 disease C0220756 AlteredExpression 0.04 disgenet
Niemann-Pick Disease, Type C PSMB9 disease C0220756 AlteredExpression 0.04 disgenet
Niemann-Pick Disease, Type C PSMB9 disease C0220756 Biomarker 0.04 disgenet
Niemann-Pick Disease, Type C TNF disease C0220756 Biomarker 0.03 disgenet
Niemann-Pick Disease, Type C TNF disease C0220756 GeneticVariation 0.03 disgenet
Niemann-Pick Disease, Type C CDKN2A disease C0220756 Biomarker 0.03 disgenet
Niemann-Pick Disease, Type C CDKN2A disease C0220756 AlteredExpression 0.03 disgenet
Niemann-Pick Disease, Type C CDKN2A disease C0220756 GeneticVariation 0.03 disgenet
Niemann-Pick Disease, Type C RASSF1 disease C0220756 Biomarker 0.03 disgenet
Niemann-Pick Disease, Type C RASSF1 disease C0220756 GeneticVariation 0.03 disgenet
Niemann-Pick Disease, Type C CHIT1 disease C0220756 Biomarker 0.03 disgenet
Niemann-Pick Disease, Type C CHIT1 disease C0220756 AlteredExpression 0.03 disgenet
Niemann-Pick Disease, Type C LINC01193 disease C0220756 Biomarker 0.02 disgenet
Niemann-Pick Disease, Type C FCER2 disease C0220756 AlteredExpression 0.02 disgenet
Niemann-Pick Disease, Type C TP53 disease C0220756 AlteredExpression 0.02 disgenet
Niemann-Pick Disease, Type C ERCC2 disease C0220756 Biomarker 0.02 disgenet
Niemann-Pick Disease, Type C CD274 disease C0220756 AlteredExpression 0.02 disgenet
Niemann-Pick Disease, Type C BACE1 disease C0220756 Biomarker 0.02 disgenet
Niemann-Pick Disease, Type C CCL2 disease C0220756 Biomarker 0.02 disgenet
Niemann-Pick Disease, Type C ATM disease C0220756 Biomarker 0.02 disgenet
Niemann-Pick Disease, Type C PTCH1 disease C0220756 GeneticVariation 0.02 disgenet
Niemann-Pick Disease, Type C LDLR disease C0220756 AlteredExpression 0.02 disgenet
Niemann-Pick Disease, Type C BACE1 disease C0220756 AlteredExpression 0.02 disgenet
Niemann-Pick Disease, Type C ERCC2 disease C0220756 GeneticVariation 0.02 disgenet
Niemann-Pick Disease, Type C IFNG disease C0220756 AlteredExpression 0.02 disgenet
Niemann-Pick Disease, Type C LDLR disease C0220756 Biomarker 0.02 disgenet
Niemann-Pick Disease, Type C H3P10 disease C0220756 AlteredExpression 0.02 disgenet
Niemann-Pick Disease, Type C ERCC1 disease C0220756 GeneticVariation 0.02 disgenet
Niemann-Pick Disease, Type C VEGFA disease C0220756 AlteredExpression 0.02 disgenet
Niemann-Pick Disease, Type C LAMP1 disease C0220756 Biomarker 0.02 disgenet
Niemann-Pick Disease, Type C IFNG disease C0220756 Biomarker 0.02 disgenet
Niemann-Pick Disease, Type C H3P10 disease C0220756 Biomarker 0.02 disgenet
Niemann-Pick Disease, Type C VEGFA disease C0220756 Biomarker 0.02 disgenet
Niemann-Pick Disease, Type C MAPT disease C0220756 Biomarker 0.02 disgenet
Niemann-Pick Disease, Type C SOX2 disease C0220756 Biomarker 0.02 disgenet
Niemann-Pick Disease, Type C PTCH1 disease C0220756 Biomarker 0.02 disgenet
Niemann-Pick Disease, Type C LAMP1 disease C0220756 AlteredExpression 0.02 disgenet
Niemann-Pick Disease, Type C TP53 disease C0220756 Biomarker 0.02 disgenet
Niemann-Pick Disease, Type C CKS1B disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C CTLA4 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C DAPK1 disease C0220756 PosttranslationalModification 0.01 disgenet
Niemann-Pick Disease, Type C OTC disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C APOBEC3A_B disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C ULK1 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C HAVCR2 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C RELA disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C ANXA1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C NPB disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C STAT3 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C OVOL2 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C EGR1 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C OTUD4 disease C0220756 PosttranslationalModification 0.01 disgenet
Niemann-Pick Disease, Type C BSND disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C NLRP2 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C WNK1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C MMP1 disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C TRBV20OR9-2 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C ALB disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C ROBO3 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C PIK3CA disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C POU5F1P3 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C SCARB1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C LPAR5 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C FOSB disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C TERT disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C SATB1 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C POSTN disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C MIR130A disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C APOD disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C TARDBP disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C CD40 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C CALR disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C JUNB disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C SEZ6 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C CDCA5 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C CCL18 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C NLK disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C ABCB1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C CP disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C FCN2 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C BCL2 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C SRRM2 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C ZMYND10 disease C0220756 PosttranslationalModification 0.01 disgenet
Niemann-Pick Disease, Type C UPK3B disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C JAK2 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C BSG disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C UGCG disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C POU5F1P4 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C HDAC2 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C PTPN12 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C S1PR3 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C GBA disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C RBM3 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C CCK disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C CDKN2B disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C SCO2 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C NBN disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C MIR10B disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C IL1B disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C HSP90AA1 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C NEGR1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C MYC disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C ZNF154 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C ATP7B disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C IL17A disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C STAR disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C FASN disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C UCA1 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C XRCC6 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C OSM disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C EPHA2 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C VIM disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C MNAT1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C SPNS1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C ANXA6 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C CUL9 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C GBA2 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C MIR663A disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C GFAP disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C EIF4E disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C TP73 disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C FATE1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C H19 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C LGALS9 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C VHL disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C SEZ6L disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C PVALB disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C CELIAC2 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C CPT1A disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C TRIM29 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C NR0B2 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C ARL2BP disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C ARF6 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C PDCD4 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C MLH1 disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C GORASP1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C HOXC6 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C TMEM97 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C CRP disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C FOXP3 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C HCRT disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C CD163 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C PAK1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C MIR185 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C BECN1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C APOE disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C JUND disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C SPHK1 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C OSCP1 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C UBE2N disease C0220756 PosttranslationalModification 0.01 disgenet
Niemann-Pick Disease, Type C IL1A disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C CD58 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C MGMT disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C BMP2 disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C CDK5R1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C CKS1BP7 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C APOBEC3A disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C IL12A disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C ARID1A disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C NBEAL2 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C TGFBR1 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C GCHFR disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C CAV1 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C RAB9A disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C SFRP1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C CDH1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C CNE-2 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C VIP disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C SIRT1 disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C WIF1 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C CCL5 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C CALCR disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C CTNNB1 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C HSPB1 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C MIR203A disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C SYT1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C PTK2 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C CDK5 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C DAP disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C HLA-A disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C JUN disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C PLAAT4 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C PTPN6 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C POU5F1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C GDE1 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C TYMP disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C NPCA1 disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C TRAF1 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C NEUROG2 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C STPG4 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C HDAC6 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C THBS1 disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C SLC6A8 disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C ST3GAL5 disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C CASP8 disease C0220756 GeneticVariation 0.01 disgenet
Niemann-Pick Disease, Type C DKK3 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C SLPI disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C DDX58 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C MIR31 disease C0220756 PosttranslationalModification 0.01 disgenet
Niemann-Pick Disease, Type C SCGB3A1 disease C0220756 PosttranslationalModification 0.01 disgenet
Niemann-Pick Disease, Type C FOXM1 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C REST disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C RTRAF disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C FGF2 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C B2M disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C ARHGAP42 disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C APC disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C FOS disease C0220756 AlteredExpression 0.01 disgenet
Niemann-Pick Disease, Type C PER2 disease C0220756 Biomarker 0.01 disgenet
Niemann-Pick Disease, Type C IGFBP6 disease C0220756 AlteredExpression 0.01 disgenet
click here to return to the previous page