Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Holoprosencephalies GLI2 disease C0079541 GeneticVariation 0.7 orphanet , disgenet
Holoprosencephalies TGIF1 disease C0079541 GeneticVariation 0.7 orphanet , disgenet
Holoprosencephalies SHH disease C0079541 CausalMutation 0.7 orphanet , disgenet
Holoprosencephalies SHH disease C0079541 GeneticVariation 0.7 orphanet , disgenet
Holoprosencephalies TGIF1 disease C0079541 Biomarker 0.7 orphanet , disgenet
Holoprosencephalies GLI2 disease C0079541 Biomarker 0.7 orphanet , disgenet
Holoprosencephalies SHH disease C0079541 AlteredExpression 0.7 orphanet , disgenet
Holoprosencephalies SIX3 disease C0079541 GeneticVariation 0.7 orphanet , disgenet
Holoprosencephalies SIX3 disease C0079541 Biomarker 0.7 orphanet , disgenet
Holoprosencephalies SHH disease C0079541 Biomarker 0.7 orphanet , disgenet
Holoprosencephalies NODAL disease C0079541 Biomarker 0.62 orphanet , disgenet
Holoprosencephalies NODAL disease C0079541 GeneticVariation 0.62 orphanet , disgenet
Holoprosencephalies ZIC2 disease C0079541 GeneticVariation 0.5 orphanet , disgenet
Holoprosencephalies ZIC2 disease C0079541 AlteredExpression 0.5 orphanet , disgenet
Holoprosencephalies ZIC2 disease C0079541 CausalMutation 0.5 orphanet , disgenet
Holoprosencephalies ZIC2 disease C0079541 Biomarker 0.5 orphanet , disgenet
Holoprosencephalies PTCH1 disease C0079541 AlteredExpression 0.46 orphanet , disgenet
Holoprosencephalies PTCH1 disease C0079541 Biomarker 0.46 orphanet , disgenet
Holoprosencephalies PTCH1 disease C0079541 GeneticVariation 0.46 orphanet , disgenet
Holoprosencephalies CDON disease C0079541 Biomarker 0.46 orphanet , disgenet
Holoprosencephalies CDON disease C0079541 AlteredExpression 0.46 orphanet , disgenet
Holoprosencephalies CDON disease C0079541 GeneticVariation 0.46 orphanet , disgenet
Holoprosencephalies FGF8 disease C0079541 Biomarker 0.45 orphanet , disgenet
Holoprosencephalies FGF8 disease C0079541 AlteredExpression 0.45 orphanet , disgenet
Holoprosencephalies FGF8 disease C0079541 GeneticVariation 0.45 orphanet , disgenet
Holoprosencephalies FGF8 disease C0079541 CausalMutation 0.45 orphanet , disgenet
Holoprosencephalies GAS1 disease C0079541 Biomarker 0.43 orphanet , disgenet
Holoprosencephalies DISP1 disease C0079541 Biomarker 0.43 orphanet , disgenet
Holoprosencephalies GAS1 disease C0079541 GeneticVariation 0.43 orphanet , disgenet
Holoprosencephalies DISP1 disease C0079541 GeneticVariation 0.43 orphanet , disgenet
Holoprosencephalies FOXH1 disease C0079541 Biomarker 0.42 orphanet , disgenet
Holoprosencephalies FOXH1 disease C0079541 GeneticVariation 0.42 orphanet , disgenet
Holoprosencephalies TDGF1 disease C0079541 Biomarker 0.4 orphanet , disgenet
Holoprosencephalies TWSG1 disease C0079541 Biomarker 0.32 disgenet
Holoprosencephalies TWSG1 disease C0079541 GeneticVariation 0.32 disgenet
Holoprosencephalies HPE1 disease C0079541 Biomarker 0.31 disgenet
Holoprosencephalies PSTPIP1 disease C0079541 Biomarker 0.3 disgenet
Holoprosencephalies PPP1R12A disease C0079541 Biomarker 0.3 disgenet
Holoprosencephalies PGAP1 disease C0079541 Biomarker 0.2 disgenet
Holoprosencephalies PIGN disease C0079541 Biomarker 0.2 disgenet
Holoprosencephalies DHCR7 disease C0079541 GeneticVariation 0.13 disgenet
Holoprosencephalies DHCR7 disease C0079541 Biomarker 0.13 disgenet
Holoprosencephalies GLI3 disease C0079541 Biomarker 0.12 disgenet
Holoprosencephalies GLI3 disease C0079541 GeneticVariation 0.12 disgenet
Holoprosencephalies FGFR1 disease C0079541 GeneticVariation 0.12 orphanet , disgenet
Holoprosencephalies FGFR1 disease C0079541 CausalMutation 0.12 orphanet , disgenet
Holoprosencephalies FGFR1 disease C0079541 Biomarker 0.12 orphanet , disgenet
Holoprosencephalies DLL1 disease C0079541 Biomarker 0.11 orphanet , disgenet
Holoprosencephalies BUB3 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies POU1F1 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies ARID1A disease C0079541 GeneticVariation 0.1 disgenet
Holoprosencephalies WDR81 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies POMGNT1 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies HOXA2 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies FKRP disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies PROP1 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies BUB1 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies IL10 disease C0079541 GeneticVariation 0.1 disgenet
Holoprosencephalies SOX2 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies CHD7 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies HESX1 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies OTX2 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies SUFU disease C0079541 Biomarker 0.1 orphanet , disgenet
Holoprosencephalies CILK1 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies BUB1B disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies IL10 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies POMT1 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies LHX4 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies L1CAM disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies GPKOW disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies B3GALNT2 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies CEP57 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies FKTN disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies HUWE1 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies GMPPB disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies SEMA3E disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies PRRX1 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies RB1 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies FGFR3 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies TRIP13 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies POMT2 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies C2CD3 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies MATN4 disease C0079541 GeneticVariation 0.1 disgenet
Holoprosencephalies LARGE1 disease C0079541 Biomarker 0.1 disgenet
Holoprosencephalies HTC2 disease C0079541 GeneticVariation 0.04 disgenet
Holoprosencephalies HTC2 disease C0079541 Biomarker 0.04 disgenet
Holoprosencephalies HPE8 disease C0079541 GeneticVariation 0.03 disgenet
Holoprosencephalies LRP2 disease C0079541 AlteredExpression 0.02 disgenet
Holoprosencephalies STIL disease C0079541 GeneticVariation 0.02 orphanet , disgenet
Holoprosencephalies MNX1 disease C0079541 GeneticVariation 0.02 disgenet
Holoprosencephalies MNX1 disease C0079541 AlteredExpression 0.02 disgenet
Holoprosencephalies TGIF2 disease C0079541 Biomarker 0.02 disgenet
Holoprosencephalies SOD1 disease C0079541 Biomarker 0.02 disgenet
Holoprosencephalies CNOT1 disease C0079541 Biomarker 0.02 orphanet , disgenet
Holoprosencephalies LRP2 disease C0079541 Biomarker 0.02 disgenet
Holoprosencephalies SOD1 disease C0079541 AlteredExpression 0.02 disgenet
Holoprosencephalies NOG disease C0079541 GeneticVariation 0.02 disgenet
Holoprosencephalies EAPP disease C0079541 Biomarker 0.01 disgenet
Holoprosencephalies SMAD2 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies POMC disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies FOXG1 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies KRIT1 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies CALM1 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies STAG2 disease C0079541 AlteredExpression 0.01 disgenet
Holoprosencephalies NR4A3 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies RALGAPA1 disease C0079541 Biomarker 0.01 disgenet
Holoprosencephalies WIF1 disease C0079541 Biomarker 0.01 disgenet
Holoprosencephalies KATNB1 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies UCN2 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies TCTN1 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies SIM2 disease C0079541 Biomarker 0.01 disgenet
Holoprosencephalies GSK3B disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies RFX4 disease C0079541 Biomarker 0.01 disgenet
Holoprosencephalies MOGS disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies CAT disease C0079541 AlteredExpression 0.01 disgenet
Holoprosencephalies SMC1A disease C0079541 AlteredExpression 0.01 disgenet
Holoprosencephalies PAX2 disease C0079541 AlteredExpression 0.01 disgenet
Holoprosencephalies CYP2E1 disease C0079541 Biomarker 0.01 disgenet
Holoprosencephalies ZIC5 disease C0079541 Biomarker 0.01 disgenet
Holoprosencephalies CPLANE1 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies RAC3 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies CALM2 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies SBE2 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies PLTP disease C0079541 AlteredExpression 0.01 disgenet
Holoprosencephalies OSCP1 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies LSS disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies FOXA2 disease C0079541 AlteredExpression 0.01 disgenet
Holoprosencephalies CALM3 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies SEPTIN9 disease C0079541 Biomarker 0.01 disgenet
Holoprosencephalies TWIST1 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies ZIC1 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies CAMKMT disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies KMT2D disease C0079541 Biomarker 0.01 disgenet
Holoprosencephalies BOC disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies CHRD disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies TCTN3 disease C0079541 GeneticVariation 0.01 disgenet
Holoprosencephalies DKK1 disease C0079541 Biomarker 0.01 disgenet
Holoprosencephalies FBXW11 disease C0079541 Biomarker 0.01 disgenet
Holoprosencephalies EYA4 disease C0079541 Biomarker 0.01 disgenet
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