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Disorder Names

Ubiquinone (CoQ10) deficiency(AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMACR, ATP5E, ATPAF2, BCS1L, BTD, C12orf65, COA5, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DGUOK, DLAT, DLD, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FH, FOXRED1, GCDH, GFM1, HADH, HADHA, HADHB, HCCS, HIBCH, HMGCL, HMGCS2, HSD17B10, ISCU, LIAS, LRPPRC, MARS2, MLYCD, MPV17, MRPL3, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, OXCT1, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PKLR, POLG, POLG2, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHA, SLC19A3, SLC22A5, SLC25A19, SLC25A20, SLC25A4, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TFAM, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCRB, UQCRQ, YARS2)

Ulnar-mammary syndrome(AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS, INPP5E, LEP, LEPR, LIPE, LMNA, MC4R, NTRK2, PCNT, PCSK1, PEPD, PHF6, PIK3R1, PLIN1, POMC, POU1F1, PPARG, PRKAR1A, PSMB8, PTRF, RAB23, RPS6KA3, SERPINA1, SIM1, TBX3, VPS13B, ZMPSTE24)

Urbach-Wiethe disease(ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ECM1, EFEMP2, ELN, ERCC4, FBLN5, FBN1, FKBP14, FLNA, GGCX, GORAB, GSN, HPGD, HRAS, LMNA, LTBP4, MMP14, PEPD, PLOD1, PYCR1, RIN2, SLC2A10, SLC39A13, SLCO2A1, SMARCAD1, TALDO1, TNXB, WRN, ZMPSTE24)

Ureteral Disorder(PAX2, ROBO2, SOX17, TNXB, HPSE2, WNT3, KAT6B, SPECC1L, SETBP1)

Urocanase deficiency(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Usher syndrome(CDH23, CIB2, CLRN1, WHRN, ADGRV1, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A)

Ushers syndrome()

UV-sensitive syndrome(BLM, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2H5, MPLKIP, POLH, RECQL4, RNF113A, UVSSA, WRN, XPA, XPC)

Ulnar-mammary syndrome(ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2, FBXW4, FGF10, FGFR1, FGFR2, FGFR3, FLNA, FLNB, GDF5, GLE1, GSC, HDAC8, KDM6A, KMT2D, LMBR1, LRP4, MYH3, NIPBL, NSDHL, PAX3, PITX1, POP1, PTH1R, RAD21, RBM8A, RECQL4, ROR2, SALL1, SALL4, SF3B4, SHOX, SLC26A2, SMC1A, SMC3, SMOC1, TBL1XR1, TBX15, TBX3, TBX5, TNNI2, TNNT3, TP63, TPM2, TRPV4, WDR19, WNT10B, WNT3, WNT5A, WNT7A, ZIC3)

Uterine cancer(BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, STK11, TP53)

UBA1(UBA1)

UBA3(UBA3)

UBAC2(UBAC2)

UBD(UBD)

UBE2A(UBE2A)

UBE2B(UBE2B)

UBE2I(UBE2I)

UBE2NL(UBE2NL)

UBE3A(UBE3A)

UBE3C(UBE3C)

UBIAD1(UBIAD1)

UBN2(UBN2)

UBQLN2(UBQLN2)

UBR1(UBR1)

UBR3(UBR3)

UBR7(UBR7)

UCHL1(UCHL1)

UCP1(UCP1)

UCP2(UCP2)

UCP3(UCP3)

UFD1L(UFD1L)

UGT1A1(UGT1A1)

UGT1A10(UGT1A10)

UGT1A3(UGT1A3)

UGT1A4(UGT1A4)

UGT1A5(UGT1A5)

UGT1A6(UGT1A6)

UGT1A7(UGT1A7)

UGT1A8(UGT1A8)

UGT1A9(UGT1A9)

UGT2A1(UGT2A1)

UGT2A3(UGT2A3)

UGT2B10(UGT2B10)

UGT2B15(UGT2B15)

UGT2B17(UGT2B17)

UGT2B28(UGT2B28)

UGT2B7(UGT2B7)

UHRF1BP1(UHRF1BP1)

UIMC1(UIMC1)

UMOD(UMOD)

UMPS(UMPS)

UNC119(UNC119)

UNC13D(UNC13D)

UNC5C(UNC5C)

UNC5CL(UNC5CL)

UNC80(UNC80)

UNC93A(UNC93A)

UNC93B1(UNC93B1)

UNG(UNG)

UNKL(UNKL)

UPB1(UPB1)

UPF3B(UPF3B)

UPK3A(UPK3A)

UQCRB(UQCRB)

UQCRQ(UQCRQ)

UROC1(UROC1)

UROD(UROD)

UROS(UROS)

USB1(USB1)

USF1(USF1)

USH1C(USH1C)

USH1G(USH1G)

USH2A(USH2A)

USP15(USP15)

USP24(USP24)

USP26(USP26)

USP46(USP46)

USP7(USP7)

USP9X(USP9X)

USP9Y(USP9Y)

UTF1(UTF1)

UTRN(UTRN)

UTS2(UTS2)

UVSSA(UVSSA)