Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Muscle Hypotonia MECP2 phenotype C0026827 CausalMutation 0.4 disgenet
Muscle Hypotonia LETM1 phenotype C0026827 Biomarker 0.4 disgenet
Muscle Hypotonia RRM2B phenotype C0026827 Biomarker 0.4 disgenet
Muscle Hypotonia NSD2 phenotype C0026827 Biomarker 0.4 disgenet
Muscle Hypotonia MECP2 phenotype C0026827 Biomarker 0.4 disgenet
Muscle Hypotonia KANSL1 phenotype C0026827 CausalMutation 0.4 disgenet
Muscle Hypotonia KANSL1 phenotype C0026827 Biomarker 0.4 disgenet
Muscle Hypotonia MECP2 phenotype C0026827 GeneticVariation 0.4 disgenet
Muscle Hypotonia MSL3 phenotype C0026827 Biomarker 0.4 disgenet
Muscle Hypotonia MSL3 phenotype C0026827 GeneticVariation 0.4 disgenet
Muscle Hypotonia PPP2CA phenotype C0026827 Biomarker 0.3 disgenet
Muscle Hypotonia ABAT phenotype C0026827 Biomarker 0.3 disgenet
Muscle Hypotonia CHST14 phenotype C0026827 Biomarker 0.3 disgenet
Muscle Hypotonia LSS phenotype C0026827 Biomarker 0.3 disgenet
Muscle Hypotonia RALGAPA1 phenotype C0026827 Biomarker 0.3 disgenet
Muscle Hypotonia NUDT2 phenotype C0026827 Biomarker 0.3 disgenet
Muscle Hypotonia DDC phenotype C0026827 Biomarker 0.3 disgenet
Muscle Hypotonia PAX7 phenotype C0026827 Biomarker 0.3 disgenet
Muscle Hypotonia INTS1 phenotype C0026827 Biomarker 0.3 disgenet
Muscle Hypotonia ASCC1 phenotype C0026827 Biomarker 0.3 disgenet
Muscle Hypotonia P4HTM phenotype C0026827 Biomarker 0.3 disgenet
Muscle Hypotonia PREPL phenotype C0026827 GeneticVariation 0.11 disgenet
Muscle Hypotonia CDKL5 phenotype C0026827 CausalMutation 0.11 disgenet
Muscle Hypotonia CDKL5 phenotype C0026827 GeneticVariation 0.11 disgenet
Muscle Hypotonia PREPL phenotype C0026827 Biomarker 0.11 disgenet
Muscle Hypotonia CDKL5 phenotype C0026827 Biomarker 0.11 disgenet
Muscle Hypotonia MPZ phenotype C0026827 GeneticVariation 0.11 disgenet
Muscle Hypotonia MPZ phenotype C0026827 Biomarker 0.11 disgenet
Muscle Hypotonia SLC25A3 phenotype C0026827 Biomarker 0.11 orphanet , disgenet
Muscle Hypotonia GLDC phenotype C0026827 Biomarker 0.11 disgenet
Muscle Hypotonia GLDC phenotype C0026827 GeneticVariation 0.11 disgenet
Muscle Hypotonia SLC22A5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DYNC1H1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PMM2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PEX3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PEX19 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia POMGNT2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DYNC1H1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia BUB1B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DYNC1H1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia AP4S1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia HDAC8 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia HDAC8 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia UBE2A phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia AKT3 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia INPPL1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC6A8 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia DEAF1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GNB1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia VLDLR phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EIF2B3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia POU1F1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC17A5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia IMPDH1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia THOC2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HDAC8 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FOXRED1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PMPCA phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia HIBCH phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia HIBCH phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia OCA2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia STIM1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia BUB1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ANTXR2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HPRT1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia RMND1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PPM1B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia BBS10 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia TIMM50 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SEMA4A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HIBCH phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SCO2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ASPM phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia HBA2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TWNK phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia STXBP1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RNF216 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DARS2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PTRH2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia TIMM50 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFA6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ST3GAL5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KIF22 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HEXA phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PRR12 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CCDC141 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PLXND1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TRNS2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GAA phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia CAMK2B phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ATRX phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DIS3L2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PAX8 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NUP133 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KCNB1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ETFDH phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ITPR1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CAMTA1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia MPI phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SIL1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GTF2IRD1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia AASS phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MTOR phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia OPHN1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC18A2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia TRNQ phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ALG1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FAN1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TG phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ITPR1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia OFD1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC2A1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NEB phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PMM2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SETD2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MAGED2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia YARS2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RAB3GAP1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TRAPPC9 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia INS phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia IFIH1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KARS1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia TRIM37 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TIMMDC1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia OTX2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NKX2-5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia AGK phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FGFR1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ASXL2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NACC1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SET phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SLC25A22 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MN1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia NDUFB3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFA9 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DHCR7 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KCNC3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia AAAS phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SETD5 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SLC7A7 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RARB phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SLC6A8 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SLC3A1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ATCAY phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PEX6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NIPBL phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia BMP2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ACTA1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia CTCF phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ADCY5 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PPP2R5D phenotype C0026827 CausalMutation 0.1 orphanet , disgenet
Muscle Hypotonia SLC52A2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia KIAA0586 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KIAA0586 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CHRNA1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia OSGEP phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ZNF592 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TUBB2B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PEX11B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KAT6A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia COQ8A phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia FLRT3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LRAT phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NPC1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SH2B1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MAP2K2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PDHA1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ARL3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DMBX1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia AP1S2 phenotype C0026827 Biomarker 0.1 orphanet , disgenet
Muscle Hypotonia SLC25A4 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia WDR73 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NPC2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TACO1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PPT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COMT phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia B9D1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HRAS phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COG5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SPTBN2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia CAMK2B phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PDX1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RARB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LAMB2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia WDR4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ZC4H2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia LMBRD1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RPGRIP1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ATXN1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GDNF phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MLXIPL phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia BCKDHB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PGAP3 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia EMD phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TPO phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GM2A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DEAF1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SATB2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia HS6ST1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia AGK phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia HMGA2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RAP1A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NAGA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FIG4 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia COX1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia OCA2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ANOS1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CC2D2A phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia NDUFA12 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HECW2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia AMMECR1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FBP1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TK2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KDM2B phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia TRNL1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFS4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PRODH phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MEF2C phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CANT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CEP104 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SC5D phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CKAP2L phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SCN4A phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia NF1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia TUBB4A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia MRAS phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HEXA phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia HACE1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ASXL3 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ASXL3 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia DNAH5 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia TRPS1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia INPP5E phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia AIPL1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CYP2R1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PTCH1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NUBPL phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TGFB2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia DPM1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SOS1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SELENON phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CASR phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia WDR11 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HRAS phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia LZTR1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FOXG1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CUL3 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CLASP1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia RXYLT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MRPS22 phenotype C0026827 Biomarker 0.1 orphanet , disgenet
Muscle Hypotonia EHMT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFB11 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COL5A1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CAMK2A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PLPBP phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COL12A1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia DMD phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CUL4B phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PEX14 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PROK2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TMEM70 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SOS2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CPT2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GBA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CLCNKB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DGCR2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HYLS1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PUS1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SIX6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SMARCE1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia OFD1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NDUFAF2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ITGB6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TPM3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TLK2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SHOC2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia MMAA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TOR1A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia WASHC5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PEX6 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PAFAH1B1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PSMD12 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia BAZ1B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SMPD1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SOX4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COL4A1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SLC52A3 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia TUBB phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia KCNQ2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia POMK phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RMND1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CNTNAP1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FKTN phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC18A2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia LAMC3 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia GNB1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia CTNND2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EP300 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC52A3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC6A8 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FKBP14 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NUBPL phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SEPSECS phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SLC26A2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SCO1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia BRPF1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia BBS2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia USP45 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TBL1XR1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CACNA1C phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia TBX1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NEU1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RET phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PLCB4 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia BRWD3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LTC4S phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LHX3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FOXE1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SPRY4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FBN1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia RMRP phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ESS2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ZFP57 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MYO5A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NR2F1-AS1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia RASA2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TGFBR2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ELP1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TRNF phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SIK1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KCNQ2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HIRA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia BBS9 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ACADM phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COLQ phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RYR1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia GTF2I phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FLG-AS1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PNPLA6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TP53RK phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GNPAT phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ARVCF phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia USP9X phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PPP2R5D phenotype C0026827 GeneticVariation 0.1 orphanet , disgenet
Muscle Hypotonia CD96 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia WDR19 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SURF1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SRD5A3 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NKX2-1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COX10 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia WDR62 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia WDR62 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia MVK phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia AHDC1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ARSA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TONSL phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ALDH7A1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CHAMP1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia DES phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia FASTKD2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ALG9 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ALDH18A1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia MLYCD phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NSMF phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC52A2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia MTM1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RIT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SIM1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TBCK phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia GJA1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ATP1A3 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ND4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ITGA3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia STXBP1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia GMPPB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RYR1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ANK3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GUCY2D phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GNAO1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia MAGEL2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia BDNF-AS phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ARID1B phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia POMT2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PMPCA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia BCL11A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia BRAF phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ETFB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CREBBP phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PHKG2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TBL1XR1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia TSHR phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NAA15 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia MSH2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SDHA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PEX7 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MMACHC phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PEX5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PIEZO2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ATP7A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC26A4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia AHSG phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NPC1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NPC1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PCYT1A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC52A2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FOXG1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CLPB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HBA1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia UBR1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ATP1A3 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PKDCC phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ADNP phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PPT1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NDP phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia IFT140 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TNXB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia IKBKG phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GAA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FLVCR1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia UFD1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MMACHC phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SPARC phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CREBBP phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SEPSECS phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ZSWIM6 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SURF1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia HACD1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TMCO1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PTCHD1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CTCF phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ZEB2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia MCCC1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC34A3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COL4A1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TRIP13 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia WDR45 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SLC25A19 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PACS1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia GABRD phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC5A5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ATIC phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PDHA1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DNMT3A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia HLCS phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia REV3L phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MEF2C phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TBCK phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia A2ML1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CRAT phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SPATA7 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PIGN phenotype C0026827 GeneticVariation 0.1 orphanet , disgenet
Muscle Hypotonia EHMT1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia DEAF1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CRB1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia AP4B1-AS1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia CCDC22 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FH phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TUBA1A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PHYH phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EPCAM phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFAF1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NOTCH3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFAF2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KCNQ3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TRPS1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CYP27B1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PEX10 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SATB2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ACTA1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia EDNRB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ALG3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CHD8 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia KMT2D phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia KLF13 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC13A5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SETD5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GDF6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MMADHC phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FBN1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FBN1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PSAP phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KIFBP phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TMEM237 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PMS1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ARMC9 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FUCA1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RPS20 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LIFR phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC6A1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia JMJD1C phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SYNE1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia OGDH phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FGFR3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EXT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EMC1-AS1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia MTRR phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PMS2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GCSH phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KIF1A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PTEN phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PYCR1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HDAC4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia BRAF phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ACTA1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KCNQ3 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia MLLT1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ARID1B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KMT2A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ALDH5A1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SETBP1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia RPS6KC1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia MCCC2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia WNT10A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia AR phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SCN1B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PLA2G6 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia D2HGDH phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GRM7 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia MED12 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GALNS phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SON phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia GNPTAB phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia DYRK1A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia TULP1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RNU4ATAC phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia KRAS phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DBT phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PC phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PIGV phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GRIN2B phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ARL13B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TRMT10A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SRCAP phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ZIC1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia AP4B1-AS1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PTEN phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia KISS1R phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SPECC1L phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GAMT phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FOXP2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia TUBA1A phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia KAT6B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TRIP12 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia LRPPRC phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HEPACAM phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia RPGRIP1L phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ND5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MAP3K20 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COG7 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KMT2A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia COX15 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NKX2-1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NDUFA11 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MED13L phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia MBD5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia STRA6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PRDM16 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KCNE5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SPG7 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PHF8 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PRDX1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FLII phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HPRT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TCTN2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia POGZ phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia GALC phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TMEM47 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PIBF1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ERCC2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HNRNPK phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia TTN phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia TTN phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia TCF20 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia TRNH phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ELN phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SYNE2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GABRA1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia H1-4 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia EIF2AK3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ATP6V0A2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia UBE3B phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ERCC1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KIF1A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia LAMA2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FKBP14 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia BRAF phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CLN8 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia COL2A1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TMEM231 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia POMT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MAN2B1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LIPT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SEC24D phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RPS6KA3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EDN3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ZNF335 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PRPS1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RERE phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CEP41 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFB10 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia STRADA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MBTPS2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PROKR2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ALDH3A2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NANS phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DAG1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ACSL4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MRPS22 phenotype C0026827 CausalMutation 0.1 orphanet , disgenet
Muscle Hypotonia BDNF phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LRP5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PIGN phenotype C0026827 CausalMutation 0.1 orphanet , disgenet
Muscle Hypotonia DGCR6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TCF20 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NDUFAF3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CENPT phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia RAF1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia KIF11 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia TCTN1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HMGCL phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SPAST phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PTEN phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ADGRG1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia HBB phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia LAGE3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EBF3 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia TMCO1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SEC24C phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ALDH7A1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PAX6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC6A19 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RET phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia B4GAT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PIGQ phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia RPS6KA3 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CLASP1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia COX3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia STAT3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SON phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia TMEM138 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ACADVL phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TSHB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GORAB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SMARCA4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DOCK3 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ZNF423 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia BUB3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia METTL23 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia KMT2C phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TCF4 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia BRCA2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PCGF2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ATPAF2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia AMER1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia TPM2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FAS phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia MYL2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FGF8 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia C12orf4 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia MMUT phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFAF5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ADCY6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TGFBR2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EBF3 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SUCLG1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ALDH18A1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SYNGAP1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia GCK phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PHF6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MLH1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia OXSM phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PHF6 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CIC phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NDUFB9 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LIMK1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MIPEP phenotype C0026827 GeneticVariation 0.1 orphanet , disgenet
Muscle Hypotonia ATRX phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SLC19A3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DUOXA2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ASCL1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia OPA1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ALAD phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RETREG1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EIF2B1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KIT phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NR2F1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ACAD8 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SMARCB1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LRP5 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia TCF4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SOX9 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia WNK1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SYT1 phenotype C0026827 GeneticVariation 0.1 orphanet , disgenet
Muscle Hypotonia CHST3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LMNA phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia BTD phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ARID2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SKI phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ZMYND11 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia TRNS1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFA2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KCNAB2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ETFA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CCDC151 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SIX3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia INPP5K phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SEMA3A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CIZ1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia EPG5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ND1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ITGA7 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia YWHAE phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MCOLN1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PLA2G6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFA4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia L2HGDH phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NOTCH1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CLUAP1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SOX11 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia B3GAT3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CLCNKA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FIG4 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PHOX2B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ATP8A2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia GJA8 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia GDI1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia VRK1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PARS2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PEX12 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFA1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CEP120 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia FARSB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia VPS13A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia UPF3B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LMNA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SKI phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFS6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ORAI1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RAF1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia STAC3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ABCC8 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC46A1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CHD7 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GABRA1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia THRB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TMEM94 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia COQ7 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PTS phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RB1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia THRA phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia BCL11B phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia TRAPPC11 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFS8 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MOGS phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CC2D2A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CRPPA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SPRED1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia BSND phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GABRB3 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ECHS1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MTTP phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RNU4ATAC phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SLC16A2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PIK3CA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GUSB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TCF4 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia LAS1L phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ALG12 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MLH3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CDKN1C phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HARS1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia FKRP phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SOX5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KCNA2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ELN phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia IDUA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ACADSB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DUOX2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COL1A2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RBM10 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia GJB1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CACNA1A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PYCR1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia KCNJ10 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CRYBA1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia VPS33B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DMPK phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EIF2B5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PLP1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CHD7 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SCN1A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HSD17B10 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia IRF2BPL phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PRPS1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia THAP11 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia KMT5B phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia HPD phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CPLANE1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ECHS1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PEX26 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia STX1B phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia IL17RD phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DGUOK phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ATP6V1A phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ERF phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RAB3GAP2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TBX19 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SMN1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia FEZF1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TPRKB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LARGE1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DLG3 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia RDH12 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SRD5A3-AS1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia LEMD3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PROP1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PNP phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EGR2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ATXN2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CIZ1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia DPYD phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ADGRG1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia DDX3X phenotype C0026827 GeneticVariation 0.1 orphanet , disgenet
Muscle Hypotonia HSPD1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COX2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CTNNB1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PLP1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ACTB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LAMA1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia HESX1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ALG6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia B3GALT6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COG8 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COA6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia IQCB1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SMARCB1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ETHE1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RREB1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FAM120AOS phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PIGL phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ALPL phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KANK1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia UBE3A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SMARCC2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ALG13 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CEP57 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SOX2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COL4A2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia QDPR phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PCDH19 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ARX phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NBAS phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ND3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SCN8A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia DCC phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ASPA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RFT1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia CPT1A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SMS phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TACR3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RAD51 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia MKS1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PTDSS1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia B3GALNT2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia POMGNT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia B3GALNT2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HNRNPR phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SLC35C1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RPS6KA3 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SMC1A phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia KMT2D phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HCN1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFAF4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TBL2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RD3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia STX1B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MYO1H phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ATP8A2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC35A2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia RNU4ATAC phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RFC2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FBXL4 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia WDR81 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PAH phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia RELN phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GRIN1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ACAT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RIN2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RRAS phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ARX phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ADAMTS2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SMC1A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HADHA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SMC3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DCX phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia H3-3A phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia RFT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PCBD1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ANKRD11 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia FDX2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EFNB1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ADGRV1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CTNNB1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ASXL1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LHX4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NRAS phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SIN3A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HNRNPU phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COG1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LAMA2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia COX6B1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MAP2K1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia WAC phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PTCH1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia UBA1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia BCKDHA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DOCK3 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia CEP290 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia HADHB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PPM1D phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia RBFOX2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SOX10 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ZBTB18 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SLC2A10 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LCA5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ALS2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PMP22 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia DDX3X phenotype C0026827 CausalMutation 0.1 orphanet , disgenet
Muscle Hypotonia TMEM216 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia POLE phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TBC1D20 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NSD1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RAB18 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COX20 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RUBCN phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia GPC3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ABCB7 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia B4GALT7 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia BMPR1A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RPE65 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RAC1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ERCC6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HNRNPH2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia AMT phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MCOLN1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia GP1BB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GLE1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia COL6A3 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia LONP1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TMEM231 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CHRNA7 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NFIX phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFA13 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SMARCB1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia COA8 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia AP4B1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia AP4B1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia EP300 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia FBXL4 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia DGCR8 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PTPN11 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COL1A1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KIAA0556 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MSMO1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia TBC1D24 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PURA phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia FLT4 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia CAMKMT phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SNAI2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NEXMIF phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia POLG phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KCNH1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PRUNE1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NDUFA10 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia THOC6 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia TMEM67 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia FGF17 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TRNW phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MKS1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EEF1A2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia CLN8 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia DPF2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COL6A2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CFL2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EIF2S3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TMEM126B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FARSB phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PRX phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RYR1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CDK13 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia CPLANE1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SEMA5A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia AGA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NUP107 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ERCC5 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ATP8 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SLC6A1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SCN9A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NMNAT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFS1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GBE1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia IYD phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SOX5 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia TRIM8 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SMC1A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia COL5A2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COX14 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PDP1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PIGQ phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia CSPP1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia IDH2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NPHP1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LMBR1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFAF6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia VPS13B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KCNK9 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia THRA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EZH2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MYMK phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CNOT3 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia IQSEC2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CLTC phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia MMAB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DNM1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ND2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia WDR26 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia BDNF phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia FHL1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CDK13 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia RAI1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PURA phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia DNM1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SCN8A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFS3 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GLI2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia CLTC phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ARHGAP31 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MTFMT phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TMEM67 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia CPS1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RPL10 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KIF11 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EMC1 phenotype C0026827 GeneticVariation 0.1 orphanet , disgenet
Muscle Hypotonia CRX phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CACNA1A phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia NDUFS7 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SATB2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PPP2R1A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ACOX1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SEMA3E phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TMEM67 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TRNN phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ACP2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EEF1A2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia VPS13B phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia BTD phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NDUFS2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KCNH1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ASXL1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SCN2A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ALDH5A1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GRIN1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PEX1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NGLY1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia BCS1L phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PEX13 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PET100 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ZDHHC9 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia P4HB phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DOK7 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ARID1A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CSTB phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NELFA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CEP290 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia VDR phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia AHI1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GALE phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TTN-AS1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia MYBPC3 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia NR2F1-AS1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia EXOSC3 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia PRRT2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia APC2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia RAP1B phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TPI1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SIN3A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SMN2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia GATA1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ZDHHC9 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia EIF2B4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PCDH19 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SPNS2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia PLOD1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CHRNB2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia NR2F1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia B4GALT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KDM6A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CLIP2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia LGI4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COL1A1 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SUCLA2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia KCNJ11 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia HYMAI phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia FMR1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PEX16 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CSTB phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia GLI2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia SNAP29 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ACY1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GABRG2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TRPV4 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia RAD21 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MPDU1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DPAGT1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GRID2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia DUSP6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TBX4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PLAGL1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COX8A phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia DBH phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MSH6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TRPV4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EIF2B2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia SCN2A phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia ACADS phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GCDH phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ATP2B3 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia NALCN phenotype C0026827 GeneticVariation 0.1 orphanet , disgenet
Muscle Hypotonia CA8 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ATP6AP1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia FLG phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia GPC4 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia ND6 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia EARS2 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia KCNJ13 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia NDUFV1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia GMPPA phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PEX2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia PMP22 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia CEP120 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia COL1A1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia TMEM43 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia MTSS2 phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia NDUFV2 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TOE1 phenotype C0026827 Biomarker 0.1 disgenet
Muscle Hypotonia TTN-AS1 phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SACS phenotype C0026827 CausalMutation 0.1 disgenet
Muscle Hypotonia SCN2A phenotype C0026827 GeneticVariation 0.1 disgenet
Muscle Hypotonia ABL1 phenotype C0026827 GeneticVariation 0.01 disgenet
Muscle Hypotonia ATXN7 phenotype C0026827 Biomarker 0.01 disgenet
Muscle Hypotonia CCDC174 NA C0026827 NA NA orphanet
Muscle Hypotonia SFXN4 NA C0026827 NA NA orphanet
Muscle Hypotonia PIGA NA C0026827 NA NA orphanet
Muscle Hypotonia GFER NA C0026827 NA NA orphanet
Muscle Hypotonia GPT2 NA C0026827 NA NA orphanet
Muscle Hypotonia UNC80 NA C0026827 NA NA orphanet
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