| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Puberty, Delayed | IGFALS | phenotype | C0034012 | Biomarker | 0.6 | disgenet |
| Puberty, Delayed | KISS1R | phenotype | C0034012 | Biomarker | 0.4 | disgenet |
| Puberty, Delayed | LEPR | phenotype | C0034012 | Biomarker | 0.4 | disgenet |
| Puberty, Delayed | KISS1 | phenotype | C0034012 | Biomarker | 0.4 | disgenet |
| Puberty, Delayed | CRH | phenotype | C0034012 | Biomarker | 0.3 | disgenet |
| Puberty, Delayed | LHB | phenotype | C0034012 | Biomarker | 0.3 | disgenet |
| Puberty, Delayed | BSCL2 | phenotype | C0034012 | Biomarker | 0.3 | disgenet |
| Puberty, Delayed | FGFR1 | phenotype | C0034012 | GeneticVariation | 0.11 | disgenet |
| Puberty, Delayed | FGFR1 | phenotype | C0034012 | Biomarker | 0.11 | disgenet |
| Puberty, Delayed | YARS2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | MMP1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | CCDC141 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPL15 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | NDP | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PPP1R15B | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | POR | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SCARB2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SRY | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | KMT2A | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | GMNN | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PNPLA6 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPL11 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | ROBO1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | CYP11A1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | FGF8 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | POLR3A | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TRIP4 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | STAT1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RAB3GAP2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SALL1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | IL17RD | phenotype | C0034012 | GeneticVariation | 0.1 | disgenet |
| Puberty, Delayed | ASXL3 | phenotype | C0034012 | CausalMutation | 0.1 | disgenet |
| Puberty, Delayed | IL17RD | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | ND6 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SPRY4 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PWAR1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | COX3 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | MKRN3 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | AIP | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | DCAF17 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | WDR11 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PTPN11 | phenotype | C0034012 | CausalMutation | 0.1 | disgenet |
| Puberty, Delayed | TRNS2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPL35 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | GHR | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | MRPS22 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TACR3 | phenotype | C0034012 | GeneticVariation | 0.1 | disgenet |
| Puberty, Delayed | NONO | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPS17 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPL35A | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | GLA | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | COL7A1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | POLR3B | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | EIF2S3 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PHF6 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | FLRT3 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | FEZF1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | CUL4B | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | HESX1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TRNW | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | GATA4 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TGFB1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | WFS1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TRNQ | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SLC29A3 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | DEAF1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | HERC2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | ALX4 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TAF13 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | DMRT3 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | HLA-DQA1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | GATA1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | COX1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TAC3 | phenotype | C0034012 | GeneticVariation | 0.1 | disgenet |
| Puberty, Delayed | TRNH | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPS10 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | ATM | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PSMC3IP | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | CYB5A | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RAB3GAP1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RAB18 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | ND5 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPS27 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | GNRHR | phenotype | C0034012 | GeneticVariation | 0.1 | disgenet |
| Puberty, Delayed | SETD5 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | IQSEC2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | INSR | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TRNS1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TBX3 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | NIPBL | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | NSMF | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | NOTCH2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | HS6ST1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SMPD1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PROP1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TRNL1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPL5 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | DCC | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPS19 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPS28 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SEMA3A | phenotype | C0034012 | GeneticVariation | 0.1 | disgenet |
| Puberty, Delayed | SMC1A | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | ZFPM2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | ND4 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PTPN11 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | NPAP1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | LHX4 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SOX3 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | WT1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | BMP15 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SEMA3E | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RAD21 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | ENTPD1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TRNF | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SEMA3A | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | ZMPSTE24 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SLC37A4 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PROKR2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | GPR161 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | MAGEL2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | OCRL | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PWRN1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | POU1F1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | GNRHR | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | GBA | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TAC3 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SLC12A3 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | LMNA | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | HSD3B2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SNORD115-1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | LAS1L | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | FGF17 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PCSK1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | UBA6-AS1 | phenotype | C0034012 | GeneticVariation | 0.1 | disgenet |
| Puberty, Delayed | SMC3 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | VAMP7 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPS15A | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPS7 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | OTX2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | BRAF | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPL27 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | CDH23 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | CDON | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | POF1B | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PHF21A | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | NLRP3 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PGM1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | HLA-DQB1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | HDAC8 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPS26 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | MKRN3-AS1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | MEN1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | ALDOA | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | ADA2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | COX2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | CYP17A1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RAI1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | CHD7 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | GLI2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | ATAD3A | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | FGD1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SOX10 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SNORD116-1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SPIDR | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPL26 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | GNRH1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | FLII | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | POMC | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | NDN | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | NUP107 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | WWOX | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | ND1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPL18 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TAF13 | phenotype | C0034012 | CausalMutation | 0.1 | disgenet |
| Puberty, Delayed | SOX9 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | SNRPN | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | DUSP6 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TSR2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | VPS13B | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | HBB | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PUS1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | MSMO1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | CTNS | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | ANOS1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | DACT1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | USP9X | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPS29 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | CLCNKB | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | NR5A1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TBC1D20 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | IPW | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | CISD2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | TACR3 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | EXT2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RPS24 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PHKG2 | phenotype | C0034012 | CausalMutation | 0.1 | disgenet |
| Puberty, Delayed | FSHR | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | ANOS1 | phenotype | C0034012 | GeneticVariation | 0.1 | disgenet |
| Puberty, Delayed | GHSR | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | CTNNB1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | G6PC | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | NR0B1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | RBM28 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | MAP3K1 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | PROK2 | phenotype | C0034012 | Biomarker | 0.1 | disgenet |
| Puberty, Delayed | KMT2D | NA | C0034012 | NA | NA | orphanet |
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