Developmental Delay - Monoallelic

Configuration file
Disease/Phenotype terms: cognition
Additional disease/phenotype
associated terms:
brain, nerve, nervous, neuronal, cerebellum, cerebral, hippocampus, hypothalamus, cortex, cortical, neuron, neurological, behavior, behaviour, developmental, synaptic


Seed genes
ABCB7, ABL1, ACTB, ACTG1, ADAR, ADCY5, ADNP, AFF2, AFF3, AFF4, AGO1, AHDC1, ALDH18A1, ALG13, AMER1, ANKH, ANKRD11, AP1S2, AP2S1, ARF1, ARHGAP35, ARHGEF9, ARID1A, ARID1B, ARID2, ARX, ASH1L, ASXL1, ASXL2, ASXL3, ATAD3A, ATP1A3, ATP6V0A1, ATP6V1A, ATP7A, ATRX, AUTS2, BCAP31, BCL11A, BCL11B, BCOR, BICD2, BMPR2, BRAF, BRPF1, BRWD3, CACNA1A, CACNA1C, CACNA1E, CACNA1G, CAMK2B, CAMK2G, CAMTA1, CASK, CBL, CCND2, CDC42, CDK13, CDK8, CDKL5, CDON, CHAMP1, CHD2, CHD3, CHD4, CHD7, CHD8, CHRNA4, CLCN4, CLTC, CNKSR2, CNOT3, COG4, COL2A1, COL4A1, COL4A3BP, CREBBP, CSNK2A1, CSNK2B, CTBP1, CTCF, CTNNB1, CUL3, CUL4B, CYFIP2, DCX, DDX23, DDX3X, DEAF1, DEPDC5, DHDDS, DKC1, DLG3, DLG4, DMD, DNM1, DNM1L, DNMT3A, DPF2, DPYSL5, DYNC1H1, DYRK1A, EBF3, EBP, EEF1A2, EEF2, EFTUD2, EHMT1, EIF5A, EP300, ERF, EZH2, FAM111A, FBN1, FBXO11, FBXW7, FGF12, FGF14, FGFR1, FGFR3, FLNA, FMR1, FOXP1, FOXP2, FOXP3, FTSJ1, GABRA1, GABRB2, GABRB3, GATAD2B, GCH1, GFAP, GIGYF1, GJC2, GLI2, GLI3, GNAI1, GNAO1, GNAS, GNB1, GNB2, GPC4, GRIA2, GRIA3, GRIN1, GRIN2A, GRIN2B, H3F3A, HCFC1, HCN1, HDAC2, HDAC4, HDAC8, HECW2, HIST1H2AC, HIVEP2, HK1, HNRNPD, HNRNPK, HNRNPR, HNRNPU, HPRT1, HRAS, HSD17B10, HUWE1, IDS, IFIH1, IKBKG, IL1RAPL1, IQSEC2, IRF2BPL, ITPR1, KANSL1, KAT6A, KAT6B, KCNA2, KCNB1, KCNC1, KCND3, KCNH1, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KDM5B, KDM5C, KDM6A, KDM6B, KIDINS220, KIF11, KIF1A, KIF5C, KLF7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KRAS, L1CAM, LZTR1, MAB21L2, MAF, MAGEL2, MAP2K1, MAP2K2, MAP3K7, MBD5, MECP2, MED12, MED13L, MEF2C, MEIS2, MIB1, MID1, MRAS, MSL2, MSL3, MTOR, MYCN, MYT1L, NAA10, NAA15, NACC1, NALCN, NDP, NDUFA1, NF1, NFIA, NFIX, NIPBL, NKX2-1, NONO, NOTCH1, NR4A2, NRAS, NSD1, NSDHL, OCRL, ODC1, OFD1, OGT, OPHN1, OTC, OTX2, PACS1, PACS2, PAFAH1B1, PAK3, PAX6, PAX8, PBX1, PCBP2, PCDH19, PCGF2, PDGFRB, PDHA1, PGK1, PHF12, PHF21A, PHF6, PHF8, PHIP, PHOX2B, PIGA, PIK3CA, PIK3R1, PIK3R2, PLP1, POGZ, POLA1, POLR2A, PPM1D, PPP1CB, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PQBP1, PRKD1, PRPF8, PRR12, PRRT2, PSMC5, PTCH1, PTCHD1, PTDSS1, PTEN, PTPN11, PUF60, PURA, QRICH1, RAB14, RAB39B, RAC1, RAD21, RAF1, RAI1, RARB, RERE, RHOBTB2, RIT1, ROR2, RPL10, RPS26, RPS6KA3, RRAS2, SATB1, SATB2, SCN1A, SCN1B, SCN2A, SCN8A, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SHANK3, SHH, SHOC2, SIK1, SIM1, SIN3A, SIX3, SKI, SLC16A2, SLC2A1, SLC35A2, SLC39A8, SLC6A1, SLC6A8, SLC9A6, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMO, SNAP25, SNRPB, SON, SOS1, SOX10, SOX11, SOX2, SOX5, SPAST, SPEN, SPOP, SPTAN1, SRCAP, SRSF1, STAG1, STAG2, STXBP1, SUZ12, SYNCRIP, SYNGAP1, SYP, SYT1, TAB2, TAF1, TAOK1, TBL1XR1, TBR1, TBX1, TCF20, TCF4, TCF7L2, TFE3, TGIF1, THRA, TINF2, TLK2, TRAF7, TRIM8, TRIO, TRIP12, TRPM3, TSC1, TSC2, TSPAN7, TUBA1A, TUBB, TUBB4A, TWIST1, U2AF2, UBE2A, UBE3A, UBTF, UPF1, UPF3B, USP7, USP9X, VAMP2, VCP, WAC, WDR26, WDR37, WDR45, YY1, ZBTB18, ZBTB20, ZC4H2, ZDHHC9, ZEB2, ZFHX3, ZMIZ1, ZMYM2, ZMYND11, ZNF148, ZNF292, ZNF711

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