Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Blepharoptoses | ACTG1 | disease | C0005745 | GeneticVariation | 0.41 | disgenet |
Blepharoptoses | ACTG1 | disease | C0005745 | Biomarker | 0.41 | disgenet |
Blepharoptoses | ZNF462 | disease | C0005745 | Biomarker | 0.4 | orphanet , disgenet |
Blepharoptoses | ZNF462 | disease | C0005745 | CausalMutation | 0.4 | orphanet , disgenet |
Blepharoptoses | PAX7 | disease | C0005745 | Biomarker | 0.3 | disgenet |
Blepharoptoses | FOXL2 | disease | C0005745 | GeneticVariation | 0.2 | orphanet , disgenet |
Blepharoptoses | FOXL2 | disease | C0005745 | Biomarker | 0.2 | orphanet , disgenet |
Blepharoptoses | ECEL1 | disease | C0005745 | Biomarker | 0.13 | disgenet |
Blepharoptoses | ECEL1 | disease | C0005745 | CausalMutation | 0.13 | disgenet |
Blepharoptoses | ECEL1 | disease | C0005745 | GeneticVariation | 0.13 | disgenet |
Blepharoptoses | TWIST1 | disease | C0005745 | GeneticVariation | 0.12 | disgenet |
Blepharoptoses | TWNK | disease | C0005745 | Biomarker | 0.12 | disgenet |
Blepharoptoses | TUBB3 | disease | C0005745 | Biomarker | 0.12 | disgenet |
Blepharoptoses | TWIST1 | disease | C0005745 | Biomarker | 0.12 | disgenet |
Blepharoptoses | TWNK | disease | C0005745 | GeneticVariation | 0.12 | disgenet |
Blepharoptoses | TUBB3 | disease | C0005745 | GeneticVariation | 0.12 | disgenet |
Blepharoptoses | CREBBP | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | DNA2 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | PABPN1 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | TYMP | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | DNA2 | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | ACTB | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | TCOF1 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | POLG2 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | ADNP | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | POLG2 | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | NIPBL | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | RIT1 | disease | C0005745 | CausalMutation | 0.11 | disgenet |
Blepharoptoses | RIT1 | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | AFG3L2 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | SIX2 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | TRNS1 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | AFG3L2 | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | DNM2 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | TYMP | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | STAC3 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | ADNP | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | PABPN1 | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | DNM2 | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | CREBBP | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | BRPF1 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | DOK7 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | RIT1 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | TK2 | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | PAX6 | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | SCO2 | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | POLG | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | PTPN11 | disease | C0005745 | CausalMutation | 0.11 | disgenet |
Blepharoptoses | SCO2 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | TK2 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | POLG | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | PTPN11 | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | PAX6 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | STAC3 | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | FOXC2 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | FOXC2 | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | ACTB | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | TUBB6 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | TUBB6 | disease | C0005745 | GeneticVariation | 0.11 | disgenet |
Blepharoptoses | PTPN11 | disease | C0005745 | Biomarker | 0.11 | disgenet |
Blepharoptoses | DNM1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC13A5 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TARDBP | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | B9D1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CHCHD10 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KISS1R | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PEX3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PLCB4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | QRICH1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | QRICH1 | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | NSD2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ZEB2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NTRK2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFAF1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FANCC | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TMEM126B | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DHDDS | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | HUWE1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC52A3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | GABRB2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC3A1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RFWD3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COX1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | GMPPB | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DDC | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FLNA | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | AUTS2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFB3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFA13 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PIK3R2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TBX1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SEPSECS | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | SCN8A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TGIF1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PEX11B | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RASA2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FEZF1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DARS2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | GFER | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PIGQ | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | CCDC141 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFA11 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | UBE3B | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | HPGD | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | HESX1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PARS2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NUBPL | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FBXL3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KIFBP | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | AK9 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | AHI1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SPRED1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | REV3L | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC18A2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLX4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RPGRIP1L | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SALL4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ASXL2 | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | SKI | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DCHS1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | LZTR1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFS8 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFA9 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TRAF7 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ADSS1 | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | SF3B4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CPLANE1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ASXL2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | YARS2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SMARCE1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MAP3K20 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FBLN5 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RAF1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CHRNA1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TMEM138 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KAT6B | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SYNGAP1 | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | BPTF | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KBTBD13 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFAF4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFS4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TRNF | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FHL1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC17A5 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ITCH | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TPM2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SUCLA2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PDHA1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | HUWE1 | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | FGFRL1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FASTKD2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RREB1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PREPL | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ND6 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | HNRNPK | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | IGHMBP2 | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | TRNN | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | LIG4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SCN3A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFS1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PLEC | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SYNGAP1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | HYLS1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFAF2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | LMNA | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FGFR1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | HOXB1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFB10 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FLRT3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | B9D2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MEN1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NPHP1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CHRNB1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | HSPG2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TTN | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SURF1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | GPC4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TFAP2A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PEX13 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SEPTIN9 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFA6 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | GFPT1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC52A2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RNASEH2C | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SMAD4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CHAT | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SYNE1 | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | WT1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SMARCC2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FGF12 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SEPSECS | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | SC5D | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ERCC4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MYL2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KRT14 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PPP3CA | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | EARS2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TACR3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | A2ML1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TMEM43 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | LRP12 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SCO1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COL3A1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SHANK3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | GCK | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ACTA1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DVL1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CHRND | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | DVL3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DNM1L | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ALX1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | EFEMP2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ARVCF | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CLTC | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MYH7 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TMEM67 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC25A4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | WFS1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | C12orf65 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MUSK | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ND4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CNKSR2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | LIPT1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | INPP5E | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CDH23 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | UBE2T | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MKS1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MARK3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FAT4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PRR12 | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | SEC24C | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SOS2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DPF2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KDM6A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SYNE1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COL2A1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FANCE | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | JMJD1C | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | WHCR | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RNASEH2B | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MRPS34 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SMARCA4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SNAP25 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PEPD | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC16A2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COLQ | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | HNRNPK | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | ECHS1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MAD2L2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RYR1 | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | IL17RD | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TACO1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ANKRD11 | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | UBA5 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DCC | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ERF | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CSPP1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TRAF7 | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | SGPL1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFS3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PROKR2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RB1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFA4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFA1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NUS1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NECAP1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KITLG | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CBL | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FGFR2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ARV1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FLI1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ABCC8 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COLEC11 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FANCI | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFAF6 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MAF | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NARS2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | BIN1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MPV17 | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | STAMBP | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PEX12 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KIF5A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TIMMDC1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CHD4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PEX26 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RNASEH2A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TRNQ | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ALG2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | WDR11 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FGFR3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MASP1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | VCP | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CACNA1B | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | EBP | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MYH8 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MED13L | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | SMC3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SOST | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | BRCA2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MGME1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ABHD5 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ARL13B | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | C1QBP | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NEB | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | BRAF | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ROR2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MECP2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | IGF1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PTS | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PUF60 | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | HACD1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | GLI3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PIEZO2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TBK1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PEX7 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MYMK | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | LONP1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FGD1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SELENON | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ALG14 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DIS3L2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TLK2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SPR | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | WNT5A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SDHD | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FANCA | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | HDAC8 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFB9 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MITF | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NXN | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CEP120 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FANCG | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MPV17 | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | CPLX1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MED12 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COX20 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | AGRN | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PTPN22 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FBN1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MYO9A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MAP2K1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | EDNRB | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CSNK2A1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PEX16 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PACS1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MYH3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SOX10 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFA2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SOX4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | BRIP1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | UTP23 | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | LMX1B | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SMC1A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COX8A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | BCOR | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NAA10 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TCTN2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KCNJ11 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RAD21 | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | ATXN3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | WWOX | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ACTL6B | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KDM5B | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NF1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KANSL1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KLHL7 | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | RRM2B | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFS6 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FDX2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CC2D2A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KMT2A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PHF6 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RNASEH1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COQ2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ADPRS | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | INS | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PDGFRB | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | AKT1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | HCN1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NSMF | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | AP3B2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SDHA | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SYNE2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ND5 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | HRAS | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TCTN1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SDHAF1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | IER3IP1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CHRNE | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FUS | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ARHGEF2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CDK13 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COLEC10 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFA10 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | C9orf72 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TPM3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CHRND | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PSMD12 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ALX3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FANCB | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COX15 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ND2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | EP300 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ZSWIM6 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | YAP1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KCNB1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NRAS | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TBC1D20 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RAD21 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SMARCB1 | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | SEMA3A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CEP104 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | XRCC2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ARID1A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NOP56 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COX14 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SPRY4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RAD51C | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NELFA | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PEX5 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ATRX | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | EMD | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | BRAF | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | PROK2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MTMR14 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SYT2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RYR1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | GLE1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFV2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FOXE3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC6A9 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TRNS2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TOP3A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MCM5 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PEX6 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KRAS | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PET100 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MAP2K2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SAMHD1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NSUN2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFA12 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC5A7 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TREX1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CHD7 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TAB2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TRAK1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PIBF1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | BCS1L | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PEX14 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ANO10 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KMT2D | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CFL2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ND3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SNAI2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NALCN | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | GP1BB | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ARMC9 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | IFIH1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FANCD2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | IARS2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CHRNG | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC1A2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FANCM | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DBH | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PTEN | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TRNL1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | GPRASP2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | GABRG2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TFAP2B | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | YWHAG | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MYPN | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TMEM237 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COX3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ZNF423 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KIF11 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | GRIN2D | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | APC | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KIAA0586 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CNTNAP1 | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | NDUFS7 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SOS1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SYNJ1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | HMGB3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFAF3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KAT6A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC6A8 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SMARCB1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | OPA1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KRAS | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | SETD5 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MRAS | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ND1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CACNA1A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFV1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KIAA0556 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FZD2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ADAR | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SOX11 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DUSP6 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RAPSN | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | WDR73 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RAB3GAP1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC19A3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TH | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PUM1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FGF8 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC18A3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PALB2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DPAGT1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ARL3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TBCK | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | KRAS | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | TP63 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ZC4H2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RAD51 | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | TMEM216 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | UNC80 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | UNC80 | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | EEF1A2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC30A9 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ATP6V1A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MYF5 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFAF5 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ARID1B | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NGLY1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ZBTB20 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MYF6 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SOS1 | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | UFD1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CNTNAP1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PIGL | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KCNA2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CHN1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DGUOK | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PLXND1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | AIP | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | VAMP1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COX10 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COX2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SZT2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KRT5 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FARS2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ARID2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PAX3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DHCR7 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | IREB2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TRNH | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | LETM1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TENM3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DMD | disease | C0005745 | GeneticVariation | 0.1 | disgenet |
Blepharoptoses | CEP41 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COMT | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PHYH | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | BDNF | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | LMOD3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | GRM1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | LRP4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FANCF | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COA8 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TCF20 | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | ANKLE2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ITGA7 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SCN4A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | EDN1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TMEM231 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RSPRY1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TMEM107 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RAP1B | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PEX10 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PEX2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FGF17 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PDX1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MYO18B | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC25A1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RAP1A | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | BRCA1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MTFMT | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TRNW | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SEMA3E | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | HIRA | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COX6B1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | STXBP1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CEP290 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | FOXRED1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | GRIA3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | DLAT | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SETBP1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | GNAI3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | B3GLCT | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COL13A1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | COL25A1 | disease | C0005745 | Biomarker | 0.1 | orphanet , disgenet |
Blepharoptoses | FANCL | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFS2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | RAD51 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLC12A6 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | UBA1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MED25 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ZMYND11 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SPECC1L | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CYFIP2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KLHL41 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | KIF7 | disease | C0005745 | CausalMutation | 0.1 | disgenet |
Blepharoptoses | RRAS | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MTM1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | TRNL2 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PEX19 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | LGI4 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CDC42 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SLCO2A1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MAFB | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | HS6ST1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CTBP1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | EED | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ANOS1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MICU1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NOTCH3 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | SQSTM1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | CCDC47 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | IDS | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | NDUFB11 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | ALDOA | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | AARS1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | PEX1 | disease | C0005745 | Biomarker | 0.1 | disgenet |
Blepharoptoses | MBD5 | disease | C0005745 | GeneticVariation | 0.09 | disgenet |
Blepharoptoses | MBD5 | disease | C0005745 | Biomarker | 0.09 | disgenet |
Blepharoptoses | RBM19 | disease | C0005745 | GeneticVariation | 0.09 | disgenet |
Blepharoptoses | RBM19 | disease | C0005745 | Biomarker | 0.09 | disgenet |
Blepharoptoses | KIF21A | disease | C0005745 | AlteredExpression | 0.04 | disgenet |
Blepharoptoses | KIF21A | disease | C0005745 | Biomarker | 0.04 | disgenet |
Blepharoptoses | KIF21A | disease | C0005745 | GeneticVariation | 0.04 | disgenet |
Blepharoptoses | OMG | disease | C0005745 | Biomarker | 0.02 | disgenet |
Blepharoptoses | OMG | disease | C0005745 | GeneticVariation | 0.02 | disgenet |
Blepharoptoses | PIK3CB | disease | C0005745 | GeneticVariation | 0.01 | disgenet |
Blepharoptoses | PHOX2A | disease | C0005745 | GeneticVariation | 0.01 | disgenet |
Blepharoptoses | PRL | disease | C0005745 | Biomarker | 0.01 | disgenet |
Blepharoptoses | WNT1 | disease | C0005745 | Biomarker | 0.01 | disgenet |
Blepharoptoses | TRNK | disease | C0005745 | GeneticVariation | 0.01 | disgenet |
Blepharoptoses | MEFV | disease | C0005745 | Biomarker | 0.01 | disgenet |
Blepharoptoses | ACSL3 | disease | C0005745 | GeneticVariation | 0.01 | disgenet |
Blepharoptoses | ARTN | disease | C0005745 | GeneticVariation | 0.01 | disgenet |
Blepharoptoses | ZIC4 | disease | C0005745 | GeneticVariation | 0.01 | disgenet |
Blepharoptoses | MAOA | disease | C0005745 | AlteredExpression | 0.01 | disgenet |
Blepharoptoses | CHMP1B | disease | C0005745 | GeneticVariation | 0.01 | disgenet |
Blepharoptoses | EIF3K | disease | C0005745 | Biomarker | 0.01 | disgenet |
Blepharoptoses | MALAT1 | disease | C0005745 | Biomarker | 0.01 | disgenet |
Blepharoptoses | ADRA1D | disease | C0005745 | Biomarker | 0.01 | disgenet |
Blepharoptoses | NHS | disease | C0005745 | Biomarker | 0.01 | disgenet |
Blepharoptoses | ZFHX4 | disease | C0005745 | Biomarker | 0.01 | orphanet , disgenet |
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