| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Syndromes | NSDHL | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SPECC1L | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ZNF41 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CCDC32 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DLK1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SON | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RSRC1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PUF60 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RDX | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GRIK2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NPHP3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NTNG1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | OCLN | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HAAO | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ADAT3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CYP51A1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GRIA4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RTL1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MET | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ADAMTS3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ALX4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | VAC14 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DDX41 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FDXR | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KIF15 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LHFPL5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | YY1AP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ACTL6B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TMEM94 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SFXN4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FBLN1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TBR1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MSX1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TBCE | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RAI1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RSPO2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TUSC3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ASXL3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SATB2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FTO | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FGF9 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SALL4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PROKR2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | WDR45 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PJVK | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PPP3CA | NA | C0039082 | NA | NA | orphanet |
| Syndromes | VANGL1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PLAT | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MASP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HYAL2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MBOAT7 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AMER1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC25A4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NLRP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BPTF | NA | C0039082 | NA | NA | orphanet |
| Syndromes | WDR11 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ERLIN2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MT-RNR1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SET | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TRIOBP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NONO | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CAMK2B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FLCN | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PIGL | NA | C0039082 | NA | NA | orphanet |
| Syndromes | UCHL1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PREPL | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MAMLD1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DPYD | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PDSS1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SIN3B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | UBE3A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RNF31 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ACSL4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TTC29 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SYN1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NIPA2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NADSYN1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TRIP4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MYO3A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TECR | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CFAP44 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TUBG1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RLIM | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KCNQ2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LMBRD2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KPNA7 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DYRK1A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CC2D1A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ALG13 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HOXA11 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ASNS | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PTPRQ | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KCNJ8 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KDM5B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KDM4B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KDM1A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MEG3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LHX4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FGFR3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CNTNAP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SIX6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PUS3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ZC4H2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | POLR3A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PIK3R2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FUZ | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PIGV | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PACS1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | STAG2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CFAP70 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CFAP251 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NFAT5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CCDC50 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GIPC3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NCDN | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NFIX | NA | C0039082 | NA | NA | orphanet |
| Syndromes | YWHAE | NA | C0039082 | NA | NA | orphanet |
| Syndromes | WDFY3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CNKSR2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GLI2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MTM1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DOCK7 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HGF | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SATB1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DRC1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MED13L | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CENPF | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GNAS | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PTEN | NA | C0039082 | NA | NA | orphanet |
| Syndromes | IARS1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TRPM3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GUF1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GJA1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RBSN | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FOXP3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NEK9 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TRIP12 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CLCN4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TUBGCP6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CNOT1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PIGY | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FRMPD4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CCDC88A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TK2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PDE4D | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CATSPER1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RAB39B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CHUK | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CRIM1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CILK1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ACTA2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC26A4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PSMB8 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | POU4F3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AHSG | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CLDN14 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | EMC1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CAMKMT | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KYNU | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KCNMA1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LMX1B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ACTG1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC26A5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MYH9 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC33A1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLITRK6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RIPK4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DNAJC3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ALKBH8 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SYT1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SMCHD1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CRKL | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BRSK2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TSPEAR | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CHD1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PRPS1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LHX1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BMPER | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SGO1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TNIK | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MPZ | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SMARCAD1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ST14 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | IER3IP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PRUNE1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PLOD2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MECR | NA | C0039082 | NA | NA | orphanet |
| Syndromes | USP7 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MED27 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FBN1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | IQSEC2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GJB3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TRRAP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MTAP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC3A1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CLCN3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KIF14 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RSPO1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DOCK8 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ESR1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PEX1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GDF5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CHAMP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DIABLO | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CDH23 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CLTC | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ZC3H14 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CFAP65 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GSDME | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PCYT1A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ACTL9 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ITSN1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PQBP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TOP3A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | COLEC10 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CNNM2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC25A3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | WNT3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | EOMES | NA | C0039082 | NA | NA | orphanet |
| Syndromes | WBP2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NBAS | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ADCY6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NGLY1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ADCY1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TRAPPC4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AP1G1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SIX1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NBEA | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC12A6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ESPN | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CRBN | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PIGC | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GJB2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC35A3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | EPS8L2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TECTA | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PLCB3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SASH1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SIM1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MECP2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NIPA1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GATA2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TNFRSF11A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MED25 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RBCK1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DCPS | NA | C0039082 | NA | NA | orphanet |
| Syndromes | EYA4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HNF1B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | EFTUD2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ODC1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DLG3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | UBR7 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HNMT | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MYO15A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | WASHC4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LOXHD1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TPM3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LRTOMT | NA | C0039082 | NA | NA | orphanet |
| Syndromes | UNC80 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HNRNPK | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SVBP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LAMA5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CDON | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SRCAP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | VRK1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | STEEP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AIMP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MT-TH | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ESRRB | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DNMT3B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ATP6V1B2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MYO1C | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MAP3K20 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DGUOK | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LINS1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CCBE1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SPINT2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RINT1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FAM111B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TKFC | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MARVELD2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HPDL | NA | C0039082 | NA | NA | orphanet |
| Syndromes | P2RX2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC12A2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HIVEP2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | VPS33A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SPTAN1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RFX6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PIK3C2A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FBXW11 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AIFM1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | COQ9 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MIR204 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CACNA1I | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TRAF7 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PIGM | NA | C0039082 | NA | NA | orphanet |
| Syndromes | XYLT2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GATA4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FOLR1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FOXG1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PGAP2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PPM1B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LMAN2L | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DNA2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RPS6KA3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | USP48 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DLL1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SIK1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SYNGAP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | COLEC11 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KIF1A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BHLHA9 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | POLG | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ANKRD11 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GFER | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RFC1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC17A8 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TRMU | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TCF7L2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MECOM | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FAT4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ROBO1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DHH | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AR | NA | C0039082 | NA | NA | orphanet |
| Syndromes | OTOA | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GPKOW | NA | C0039082 | NA | NA | orphanet |
| Syndromes | B3GAT3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HNRNPU | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DMD | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PTCHD1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC30A10 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MID2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ERMARD | NA | C0039082 | NA | NA | orphanet |
| Syndromes | OTOG | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AGTR2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CUX1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LMNA | NA | C0039082 | NA | NA | orphanet |
| Syndromes | YY1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CACNG2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ATAD3A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CIB2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HRAS | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SYNCRIP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KAT6A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SPAG17 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KCNQ5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HSPB8 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GRAP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FRMD4A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FREM1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CLCN6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SYNE4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DICER1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LARS1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | POMP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ABCC8 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SYP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RERE | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TNFRSF1A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AXIN2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PAK3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DNAH1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KARS1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AKT3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TP63 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FBXL4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ELOVL4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SYT14 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BSCL2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PIGA | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SRPX2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SH2B3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TNC | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HSPA9 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KITLG | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FAM126A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MAPT | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GRIN1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TPRN | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SEPTIN12 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PRSS12 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SAMD9 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CNOT2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AFG3L2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KLHL7 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ADNP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PRICKLE2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HERC1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KLF1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CCNK | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ZNF81 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KRT1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC6A17 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CEACAM16 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DPYSL5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | STAT1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | COL11A2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KRAS | NA | C0039082 | NA | NA | orphanet |
| Syndromes | USH1C | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NSD1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TBX4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DNMT1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RUNX2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ABCC1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ARHGEF6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DSP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SHH | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SETD1A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SOX5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | IL10 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RNF43 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CDKN2A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PALS1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HELLS | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TANC2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MAN1B1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TTC5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ZMYND11 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NTNG2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TBX1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FOXP2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SPATA5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TRHR | NA | C0039082 | NA | NA | orphanet |
| Syndromes | OPHN1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SETD5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | IGBP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PIGG | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GATA6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | UBE4A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KIF11 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC4A11 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CIC | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ASH1L | NA | C0039082 | NA | NA | orphanet |
| Syndromes | OPN1LW | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MCM2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ELMOD3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TRMT1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MAPK8IP3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NSUN2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MSTO1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ABCA5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ZNF462 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | STRADA | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PCNA | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NKX2-5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GRIN2A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HBG1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | OPN1MW | NA | C0039082 | NA | NA | orphanet |
| Syndromes | EFEMP2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DEAF1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GPR161 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | JARID2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | STAMBP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TBCD | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MT-CO1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | IQSEC1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TCF20 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HDAC4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | COCH | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PIEZO2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MED12L | NA | C0039082 | NA | NA | orphanet |
| Syndromes | STAG1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TMEM132E | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TJP2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ATR | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RHBDF2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ARID1B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GREM1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DDX11 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CDH15 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LBR | NA | C0039082 | NA | NA | orphanet |
| Syndromes | IL10RA | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PNPLA6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MBTPS2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DISC1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DNAH17 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FTSJ1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CFAP69 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ALX1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PLK4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RPL10 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FIBP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | S1PR2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | POLR1C | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RMI2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ASPH | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FSIP2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ILDR1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FMR1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | COL2A1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TMPRSS3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GLIS3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LGI4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NLRP12 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SUCLA2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CCND2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ZNF711 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ANK1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | EDC3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PSMD12 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HBB | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KDM5C | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GRIN2B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NPR2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | OTULIN | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ZBTB20 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | WAC | NA | C0039082 | NA | NA | orphanet |
| Syndromes | EPB41L1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TRIO | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ITGB6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC9A1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LEMD3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SSBP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NARS2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MYO6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GLE1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PPP2R5D | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FGFR1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PIGO | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TRAPPC12 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | UBE3B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MT-TS1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DYNC1H1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TMEM185A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PGAP3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ERBB4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MYT1L | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CDC42 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PDGFRB | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HOXA2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HOMER2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PLP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CDH11 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | EBP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PHIP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AP1B1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | WASF1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DLG4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FRRS1L | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DMXL2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CEP55 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KY | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DPH1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SOX10 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TTC21A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MADD | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TOM1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KPTN | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC44A4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GDI1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | STRC | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MED12 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DOCK3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KCNQ4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TSPAN7 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GRM7 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KCNJ11 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BAP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KAT8 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AK7 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GZF1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BCAS3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MIR96 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GATAD2B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PDE1C | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ZNF592 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CACNA1S | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PPP2R1A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC38A8 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GNB5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | UPF3B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | THOC6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TTN | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TNRC6B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FGFR2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PAFAH1B1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NLRC4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HCFC1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | OSBPL2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MIR184 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KL | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RRM2B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MSRB3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MTOR | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LHX3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CD164 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ITPR1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PLCB1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PAX6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TMEM67 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ENPP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SAMD9L | NA | C0039082 | NA | NA | orphanet |
| Syndromes | WDR73 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GALNT3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | UFSP2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MAPK1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FOXP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BCKDK | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AP1S2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ST3GAL3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CLIC5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NFIA | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NRAS | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MAGEL2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PNPT1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HUWE1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GPRASP2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CLIP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MITF | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BSND | NA | C0039082 | NA | NA | orphanet |
| Syndromes | POGZ | NA | C0039082 | NA | NA | orphanet |
| Syndromes | IL1RAPL1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BEST1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NHLRC2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HMGA2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SERAC1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SCP2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | USP9X | NA | C0039082 | NA | NA | orphanet |
| Syndromes | USP27X | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SARS1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ARMC2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MBD5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC45A1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | COL27A1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NTRK2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NEMF | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ADAMTSL1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | STS | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ACTL6A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TAF1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TAF2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MYO1A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CLDN10 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ATP2B2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NR3C1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MED13 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CSNK2B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PHOX2B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GRXCR1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RAB11A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MRPS7 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | VPS45 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CLIC2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PGAP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BCR | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PCDH15 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ALPK1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LSS | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RNF135 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SIN3A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MEIS2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RIPOR2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | IRX5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC7A2-IT1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HESX1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ADAMTS18 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ZBTB24 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | OTOF | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RIPK1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NAA20 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | IL10RB | NA | C0039082 | NA | NA | orphanet |
| Syndromes | UBA1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TMIE | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SETD1B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SPTBN1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BDP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | EZR | NA | C0039082 | NA | NA | orphanet |
| Syndromes | METTL23 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | STXBP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CDCA7 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HOXB1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TRAPPC9 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AGK | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TBCK | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GRXCR2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FGF23 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PIK3CA | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AP1S1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CLN8 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | C9ORF72 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | AGO2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NAA10 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TMPRSS6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | WFS1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DCDC2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LTBP3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TMC1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HBG2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TFB1M | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BRAT1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LARS2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | LARP7 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC26A8 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MAF | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MT-ND4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CAMK2A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KIAA1109 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BCL11A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BMPR1A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RNF2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DES | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GRHL2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KMT2E | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NOG | NA | C0039082 | NA | NA | orphanet |
| Syndromes | EPS8 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CRADD | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CTDP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MAN2C1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MED23 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SPEF2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GPSM2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | POLR3B | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FMN2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | EEF1A2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ASAH1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TRAPPC11 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SH2B1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PLS1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NT5E | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NR2F1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | YIPF5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | B3GALT6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BMP2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CABP2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DDX6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | COG6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC19A3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | C12ORF4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CRYM | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FLNA | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CDKL5 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NALCN | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ZMIZ1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TWNK | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC30A9 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | EMC10 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PUS7 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | B3GALNT2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SMAD3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | F12 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ANKRD17 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PSTPIP1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CNPY3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PHACTR1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | OTOGL | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RNF216 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FKBP10 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PTPN23 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CCNQ | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TBC1D24 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MEF2C | NA | C0039082 | NA | NA | orphanet |
| Syndromes | POU3F4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NDST1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CFAP43 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CNOT3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MPZL2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SCN2A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MYO7A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | KIRREL3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PEX6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ARX | NA | C0039082 | NA | NA | orphanet |
| Syndromes | NIPBL | NA | C0039082 | NA | NA | orphanet |
| Syndromes | BCORL1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ROR1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ANK3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DIAPH1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | COPA | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DNM2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TAOK1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CCDC174 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CYP26B1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | CDC14A | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PTPN14 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PIGW | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MYBPC1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | EARS2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MYH14 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TCF4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | PPIP5K2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TUBGCP4 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HTT | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SLC9A7 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | GJB6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ARHGEF9 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | RIN2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HHAT | NA | C0039082 | NA | NA | orphanet |
| Syndromes | DIAPH3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SOBP | NA | C0039082 | NA | NA | orphanet |
| Syndromes | FBXO31 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | SERPINB6 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | COX4I2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | WHRN | NA | C0039082 | NA | NA | orphanet |
| Syndromes | TTI2 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | ABCC9 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | JAM3 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | MSMO1 | NA | C0039082 | NA | NA | orphanet |
| Syndromes | HS2ST1 | NA | C0039082 | NA | NA | orphanet |
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