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Endocrine/metabolic

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Resultado búsqueda

Acidemia y aciduria metilmalónica

11 genes

ABCD4, ACSF3, LMBRD1, MCEE, MMAA, MMAB, MMACHC, MMADHC, MMUT, SUCLA2, SUCLG1

Aciduria glutárica

5 genes

ETFA, ETFB, ETFDH, GCDH, SUGCT

Alteración del ciclo de la urea

12 genes

ARG1, ASL, ASS1, CA5A, CPS1, GLUD1, GLUL, OTC, SLC25A13, SLC25A15, SLC25A20, SLC7A7

Amiloidosis familiar

21 genes

APOA1, APOA2, APP, B2M, CST3, F10, FGA, GPNMB, GSN, IL31RA, ITM2B, LYZ, MEFV, NLRP3, OSMR, PRNP, RET, TACSTD2, TGFBI, TNFRSF1A, TTR

Anomalías de la beta-oxidación de los ácidos grasos

45 genes

ABCC8, ABCD1, ACAD8, ACAD9, ACADM, ACADVL, AKT2, CPT1A, CPT1B, CPT1C, CPT2, CTNS, DLD, HADH, HMGCL, HNF1A, HNF4A, KCNJ1, KCNJ11, LTC4S, NADK2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLA2G4A, SLC12A1, SLC22A5, SLC25A20, SLC52A1, TANGO2, TBXAS1, TRMU, UCP2

Cetoacidosis

20 genes

ABCC8, ACAT1, ACSF3, BTD, CA5A, CYC1, EIF2AK3, GCK, GK, HNF4A, INS, INSR, IVD, KCNJ11, MCCC2, MMUT, OXCT1, PDX1, SHOX, SLC16A1

Defectos congénitos de la glicosilación

49 genes

ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B3GLCT, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, FUT8, GMPPA, GNE, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, NUS1, PGM1, PMM2, RFT1, SEC23B, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TUSC3

Deficiencia combinada de hormonas hipofisarias

13 genes

GH1, GHRHR, GHSR, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3

Deficiencia de hormona del crecimiento

4 genes

BTK, GH1, GHRHR, RNPC3

Diabetes

88 genes

ABCC8, AGPAT2, AKT2, ALMS1, APOE, APPL1, AR, ARL6, ATM, BLK, BSCL2, CAV1, CDKN1C, CDKN2A, CEL, CFTR, CIDEC, CISD2, CP, DCAF17, DNAJC3, EIF2AK3, ENPP1, FOXP3, FXN, G6PC2, GATA4, GATA6, GCK, GLIS3, GLUD1, GNAS, GPIHBP1, HADH, HAMP, HFE, HMGA2, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, INSR, KCNJ11, KLF11, KRAS, LEP, LEPR, LIPC, LMNA, LRBA, MC4R, MKKS, MLXIPL, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX4, PAX6, PCBD1, PCNT, PCSK1, PDX1, PIK3R1, PLAGL1, PLIN1, POLD1, POMC, PPARG, PPP1R3A, PTF1A, RFX6, SHH, SLC19A2, SLC29A3, SLC2A1, SLC2A2, SPINK1, STAT1, STAT3, TP53, TRMT10A, UCP2, WFS1, ZBTB20, ZFP57

Diabetes de debut neonatal

6 genes

ABCC8, GCK, INS, KCNJ11, PTF1A, RFX6

Diabetes del adulto de inicio juvenil (MODY)

14 genes

ABCC8, APPL1, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1

Dislipemias

29 genes

ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, CYP7A1, GK, GPIHBP1, HNF1A, HNF4A, LCAT, LDLR, LDLRAP1, LEP, LIPA, LIPC, LMF1, LPL, MTTP, PCSK9, PPARG, SAR1B, SCARB1

Déficit primario de CoQ10

8 genes

COQ2, COQ4, COQ6, COQ7, COQ8A, COQ9, PDSS1, PDSS2

Endocrinopatía

14 genes

BTK, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX3

Enfermedad de Niemann-Pick

4 genes

APOE, NPC1, NPC2, SMPD1

Enfermedad de Wilson

1 genes

ATP7B

Enfermedades peroxisomales

30 genes

ABCD1, ABCD3, ACBD5, ACOX1, ACOX2, AGPS, AGXT, AMACR, BAAT, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11A, PEX11B, PEX11G, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2

Enfermedades por depósito lisosomal

71 genes

ADAMTSL2, AGA, ARSA, ARSB, ASAH1, ATP13A2, CHIT1, CLN3, CLN5, CLN6, CLN8, COL2A1, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, FIG4, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNE, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHYH, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1

Galactosemia

5 genes

GALE, GALK1, GALT, SLC2A2, UGT8

Glucogenosis

28 genes

AGL, ALDOA, ENO3, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, LDHB, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PRKAG2, PYGL, PYGM, RBCK1, SLC22A5, SLC2A2, SLC37A4

Hemocromatosis

7 genes

BMP2, FTH1, HAMP, HFE, HJV, SLC40A1, TFR2

Hiperamonemia

64 genes

ABCC8, ACAD9, ACADM, ACADS, ACADVL, ACSF3, ALDH18A1, ARG1, ASL, ASS1, ATP5F1D, ATPAF2, BCKDHA, BCKDHB, BTD, CA5A, CAD, CPS1, CPT1A, CPT2, CYC1, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, GLUL, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, NAGS, NBAS, NDUFA6, NR1H4, OAT, OTC, PC, PCCA, PCCB, SERAC1, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A29, SLC7A7, TANGO2, TAZ, TMEM70, TUFM, UQCRC2

Hipercalcemia hipocalciúrica familiar

3 genes

AP2S1, CASR, GNA11

Hipercolesterolemia familiar

4 genes

APOB, LDLR, LDLRAP1, PCSK9

Hiperfenilalaninemia

6 genes

DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR

Hiperfosfatasia

13 genes

ALPL, GNAS, PGAP2, PGAP3, PIGO, PIGV, PIGW, PIGY, SOST, SQSTM1, TBCE, TNFRSF11A, TNFRSF11B

Hiperoxaluria

19 genes

AGXT, CCL2, CCL5, GRHPR, HAO1, HAO2, HAVCR1, HOGA1, IL6, NFKB1, PAX2, PEX1, RAP1A, RET, RUNX2, SAT1, SLC26A1, SLC26A6, SLC38A1

Hipertrigliceridemia

11 genes

APOA1, APOA5, APOC2, APOC3, APOE, GK, GPD1, GPIHBP1, LIPI, LMF1, LPL

Hipobetalipoproteinemia

6 genes

APOB, PCSK9, ANGPTL3, NPC1L1, MTTP, SAR1B

Hipocolesterolemia - hipobetalipoproteinemia

19 genes

ABCA1, ANGPTL3 , APOA5, APOB , APOC3 , CCT5, CCT5 , DHCR7, FLCN, HSD3B7, MSMO1, MSMO1 , MTTP , PANK2, PCSK9, PEX12, PMM2, SAR1B, SAR1B

Hipoglucemia

17 genes

ABCC8, AGL, FBP1, G6PC, GCK, GLUD1, GYS2, HADH, HNF1A, HNF4A, INSR, KCNJ11, PHKA2, PYGL, SLC16A1, SLC37A4, UCP2

Hipogonadismo hipogonadotropo

57 genes

ANK1, ANOS1, AR, AXL, CCDC141, CHD7, CTDP1, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GLI2, GNRH1, GNRHR, HESX1, HFE, HJV, HS6ST1, IL17RD, KISS1, KISS1R, LEP, LEPR, LHB, MAGEL2, MKRN3, NDN, NDNF, NR0B1, NR5A1, NSMF, PCSK1, PNPLA6, POLR3A, POLR3B, PROK2, PROKR2, PROP1, RAB3GAP2, RNF216, SEMA3A, SEMA3E, SIX6, SNRPN, SOX10, SOX2, SOX3, SPRY4, SRA1, TAC3, TACR3, TFR2, TP63, WDR11

Hipoparatiroidismo

29 genes

AIRE, AP2S1, CASR, CDH7, CYP24A1, FAM111A, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, PDE4D, PRKAR1A, PTH, PTH1R, SOX3, STX16, TBCE, TBX1

Hipotiroidismo congénito

41 genes

CDCA8, DMXL2, DUOX2, DUOXA2, FOXE1, FOXI1, GLIS3, GNAS, HESX1, IGSF1, IYD, KAT6B, KCNJ10, KDM6A, KMT2D, LHX3, LHX4, NKX2-1, NKX2-5, OTX2, PAX8, PDE4D, POU1F1, PRKAR1A, PROP1, PTRH2, SECISBP2, SLC16A2, SLC26A4, SLC5A5, SOX3, TBL1X, TG, THRA, THRB, TPO, TRH, TRHR, TSHB, TSHR, UBR1

Insuficiencia adrenal

81 genes

AAAS, ABCC8, ABCD1, AIP, AIRE, BCOR, BRAF, CDH23, CTNNB1, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, GATA4, GK, GLI3, GMPPA, HBB, HERC2, HSD11B2, HSD17B4, HSD3B2, IARS2, KCNJ11, LHX4, LIPA, MAGEL2, MAP3K1, MC2R, MCM4, MEN1, MKRN3, MRAP, MRPS7, NDN, NF2, NFKB2, NNT, NPAP1, NR0B1, NR3C1, NR3C2, NR5A1, PCSK1, PDGFB, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, POMC, POR, PROP1, RBM28, SAMD9, SCNN1B, SGPL1, SMARCB1, SNRPN, SOX9, SRY, STAR, STEAP3, SUFU, TBCK, TBX19, TCTN3, TRAPPC11, TXNRD2, WT1, WWOX, ZFPM2

Intolerancia al ejercicio

86 genes

ACAD9, ACTA1, AGK, ATP5F1D, BCS1L, C1QBP, CAVIN1, CHCHD10, COA5, COA7, COA8, COL13A1, COQ8A, COX10, COX14, COX20, COX6B1, COX8A, DMD, DNA2, ENO3, FASTKD2, FLAD1, FOXRED1, GMPPB, GYS1, HADHA, HADHB, HINT1, ISCU, KBTBD13, KLHL41, LAMP2, LDHA, MGME1, MYPN, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NEB, NUBPL, PET100, PFKM, PGAM2, PGK1, PGM1, PHKA1, PNPLA2, POLG, POLG2, PUS1, RNASEH1, RRM2B, RSPH4A, RSPH9, SCO1, SDHA, SDHAF1, SDHD, SLC18A3, SLC25A32, SLC25A4, TACO1, TAZ, TIMMDC1, TK2, TMEM126B, TOP3A, TPM2, TPM3, TRMT5, TWNK, YARS2

Lipodistrofia

39 genes

ADRA2A, AGPAT2, AKT2, ALB, ATP6V0A2, BANF1, BSCL2, CAV1, CAVIN1, CIDEC, FBN1, FGF21, IGF1R, INSR, KCNJ6, LEP, LIPE, LMNA, LMNB2, LPIN1, LPIN2, OTULIN, PCYT1A, PIK3R1, PLIN1, PMM2, POLD1, POLR3A, PPARG, PSMA3, PSMB4, PSMB8, PSMB9, RETN, SPRTN, SREBF1, TBC1D4, WRN, ZMPSTE24

Metabolismo del ácido lipoico

7 genes

AMT, GCSH, GLDC, LIAS, LIPT1, NFU1, SLC25A26

Metabolopatías

269 genes

ABCC6, ABCD1, ABCD4, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ACY1, ADSL, AGA, AGK, AGL, AGPAT2, AKT2, ALAS2, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, AMACR, AMT, APOA1, APOE, APTX, AR, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP5F1E, ATP7B, ATPAF2, AUH, B4GALT1, BCKDHA, BCKDHB, BSCL2, BTD, CAVIN1, CBS, CD320, CLN3, CLN5, CLN6, CLN8, COG1, COG4, COG5, COG6, COG8, COQ2, COQ6, COQ8A, COQ9, CPS1, CPT1A, CPT2, CTH, CTSA, CYP27A1, DBT, DDOST, DHCR7, DHFR, DLD, DNAJC19, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, ENO3, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FH, FMO3, FTCD, FUCA1, G6PC, G6PD, GAA, GALC, GALK1, GALNS, GALT, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, GLA, GLB1, GLDC, GLUD1, GLYCTK, GM2A, GNE, GNMT, GNPTAB, GNPTG, GNS, GPHN, GUSB, GYS1, GYS2, HADH, HADHA, HADHB, HAMP, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HJV, HLCS, HMGCL, HMGCS2, HNF4A, HPD, HSD17B10, HTRA2, HYAL1, IDH2, IDS, IDUA, IGF2, INS, INSR, IVD, L2HGDH, LDHA, LDHB, LEP, LIPA, LMBRD1, LMNA, LPIN1, LPIN2, LPL, MAN2B1, MANBA, MAT1A, MC4R, MCCC1, MCCC2, MCEE, MCOLN1, MGAT2, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPI, MTHFR, MTR, MTRR, MTTP, NAGA, NAGLU, NAGS, NEU1, NPC1, NPC2, NR0B2, OAT, OPA3, OTC, PAH, PC, PCBD1, PCCA, PCCB, PCK1, PCK2, PDSS1, PDSS2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGM1, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PLIN1, PMM2, PNPO, PPARG, PPOX, PPT1, PRKAG2, PRODH, PSAP, PTS, PYGL, PYGM, QDPR, RFT1, RPIA, SERAC1, SGSH, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC2A2, SLC35C1, SLC37A4, SLC40A1, SLC6A19, SLC6A8, SMPD1, SRD5A3, SUCLA2, SUCLG1, SUMF1, SUOX, TAT, TAZ, TFR2, TLR4, TMEM165, TMEM70, TPP1, TREX1, UCP2

Metilcrotonilglicinuria

2 genes

MCCC1, MCCC2

Obesidad monogénica

51 genes

ADCY3, ADRB2, ADRB3, AFF4, AGRP, ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CARTPT, CEP290, CUL4B, DYRK1B, ENPP1, GHRL, GNAS, IFT172, IFT74, KIDINS220, KSR2, LEP, LEPR, MAGEL2, MC3R, MC4R, MKKS, MKS1, NR0B2, NTRK2, PCSK1, PHF6, POMC, PPARG, PRMT7, SDC3, SDCCAG8, SETD2, SH2B1, SIM1, TRIM32, TTC8, TUB, UCP3, VPS13B, WDPCP

Panhipopituitarismo

31 genes

ARNT2, BMP4, CDON, CHD7, FGF8, FGFR1, GLI2, GLI3, GPR161, HESX1, HHIP, HNRNPU, IFT172, IGSF1, LHX3, LHX4, OTX2, PAX6, PNPLA6, POLR3A, POU1F1, PROKR2, PROP1, RBM28, SHH, SOX2, SOX3, TCF7L1, TGIF1, WDR11, ZSWIM6

Porfirias

14 genes

ABCB6, ALAD, ALAS1, ALAS2, CPOX, CYP1A2, FECH, GATA1, HAMP, HFE, HMBS, PPOX, UROD, UROS

Progeria y síndromes progeroides

17 genes

ALDH18A1, B4GALT7, BANF1, BLM, ERCC2, ERCC4, ERCC5, ERCC6, ERCC8, LMNA, NAT10, POLD1, PYCR1, RECQL4, SLC25A24, WRN, ZMPSTE24

Raquitismo

23 genes

ABCC6, ALPL, ANKH, BAAT, CASR, CLCN5, CTNS, CYP27B1, CYP2R1, DMP1, ENPP1, EPHX1, FAH, FGF23, HNF4A, KL, OCRL, PHEX, SLC34A1, SLC34A3, SLC4A1, TJP2, VDR

Resistencia a hormonas de crecimiento

3 genes

IGF1, IGF1R, IGF2

Resistencia a hormonas tiroideas

3 genes

THRA, THRB, TSHR

Retraso del crecimiento

1173 genes

A2ML1, AAAS, AARS1, AASS, ABCA12, ABCB11, ABCB6, ABCB7, ABCC8, ABCD4, ACACA, ACAN, ACD, ACP5, ACTB, ACTG1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, ADGRG6, ADNP, ADSL, AFF4, AGA, AGK, AGL, AGPS, AHSG, AIP, AKT1, ALDH18A1, ALDH3A2, ALDOA, ALG1, ALMS1, ALOX12B, ALOXE3, ALPL, ALX4, AMER1, AMPD2, ANK1, ANKLE2, ANKRD11, ANOS1, ANTXR1, ANTXR2, AP1S1, AP4B1, AP4E1, AP4S1, AQP2, ARCN1, ARG1, ARID1A, ARID1B, ARID2, ARL6, ARNT2, ARSB, ARSL, ARVCF, ARX, ASAH1, ASL, ASPM, ASXL1, ASXL3, ATM, ATP5F1A, ATP6V0A2, ATP6V0A4, ATP6V1A, ATP6V1B2, ATP6V1E1, ATP7A, ATP8A2, ATP8B1, ATPAF2, ATR, ATRIP, ATRX, AUTS2, AVP, AVPR2, B3GALT6, B3GAT3, B3GLCT, B4GALT7, BANF1, BAZ1B, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BCR, BCS1L, BDNF, BGN, BLM, BMP1, BMP15, BMP2, BMPER, BMPR1B, BPNT2, BRAF, BRCA2, BRF1, BRIP1, BRPF1, BTD, BTK, BUB1, BUB1B, BUB3, C15ORF41, C1R, C1S, C8ORF37, CA2, CA8, CAMKMT, CANT1, CASK, CASP8, CASR, CAV1, CBL, CC2D2A, CCBE1, CCDC141, CCDC22, CCDC8, CCNQ, CD55, CD96, CDAN1, CDC45, CDC6, CDCA7, CDH23, CDH3, CDK5RAP2, CDK6, CDKN1C, CDON, CDSN, CDT1, CENPE, CENPJ, CEP120, CEP135, CEP152, CEP164, CEP290, CEP57, CEP63, CERS3, CFAP410, CHCHD10, CHD4, CHD7, CHRNA1, CHRNA7, CHRND, CHRNG, CHST3, CISD2, CIT, CITED2, CKAP2L, CLCN5, CLCN7, CLIP2, CLMP, CLP1, CLPB, CLPP, COG1, COG4, COL10A1, COL11A1, COL11A2, COL17A1, COL1A1, COL1A2, COL27A1, COL2A1, COL3A1, COL5A1, COL5A2, COL6A2, COL7A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, COMT, COQ4, COQ7, COQ9, COX7B, CPLANE1, CPLX1, CREBBP, CRIPT, CRKL, CRTAP, CTBP1, CTC1, CTCF, CTDP1, CTNNB1, CTNND2, CTNS, CTSA, CTSK, CUL4B, CUL7, CWC27, CYB5A, CYB5R3, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP27B1, CYP2R1, CYP4F22, DACT1, DCHS1, DCX, DDB2, DDHD2, DDOST, DDR2, DDX11, DDX58, DEAF1, DGCR2, DGCR6, DGCR8, DGUOK, DHCR24, DHCR7, DHODH, DIAPH1, DKC1, DLL3, DLX5, DMP1, DMRT3, DMXL2, DNA2, DNAJC19, DNAJC21, DNAJC3, DNMT3B, DOK7, DONSON, DPH1, DPP6, DPYD, DPYS, DSG1, DST, DUOX2, DUOXA2, DUSP6, DVL1, DVL3, DYM, DYNC2H1, DYNC2LI1, DYRK1A, EBF3, EBP, ECE1, ECEL1, EDN3, EDNRB, EFL1, EFNB1, EFTUD2, EHHADH, EHMT1, EIF2AK3, EIF2S3, EIF4A3, ELAC2, ELN, ELP1, ELP2, EMG1, ENPP1, ENTPD1, EP300, EPG5, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ESS2, EVC, EVC2, EXOSC3, EXT1, EXT2, EXTL3, EYA1, FAM111A, FAM111B, FAM20C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FARS2, FAS, FAT4, FBN1, FBXL4, FERMT1, FEZF1, FGD1, FGF17, FGF23, FGF8, FGFR1, FGFR2, FGFR3, FGFRL1, FIG4, FKBP10, FKTN, FLCN, FLI1, FLII, FLNA, FLNB, FLRT3, FLVCR2, FMR1, FOXC1, FOXE1, FOXG1, FOXRED1, FSHB, FSHR, FTCD, FTO, FUCA1, FZD2, G6PC, G6PC3, GABRD, GALNS, GATA1, GATA3, GATA4, GATA5, GATA6, GBA, GCK, GDF1, GDF5, GDNF, GFM1, GH1, GHR, GHRHR, GHSR, GJA1, GJA5, GJB2, GJB3, GJB4, GJB6, GK, GLA, GLB1, GLE1, GLI2, GLI3, GLIS3, GLYCTK, GM2A, GMNN, GMPPA, GNAS, GNPAT, GNPTAB, GNPTG, GNRH1, GNRHR, GORAB, GP1BB, GPC6, GPD1, GPR161, GPX4, GRHL2, GRIA3, GRM1, GSC, GTF2E2, GTF2H5, GTF2I, GTF2IRD1, GTPBP3, GUCY2D, GUSB, GYS2, HACE1, HADH, HBA1, HBA2, HBB, HCCS, HCFC1, HDAC4, HDAC6, HDAC8, HELLS, HERC2, HES7, HESX1, HHAT, HIC1, HIRA, HLCS, HMGA2, HMGB3, HMOX1, HNF1B, HNF4A, HNRNPA1, HNRNPH2, HNRNPU, HOXD13, HPRT1, HRAS, HS6ST1, HSD11B2, HSD17B4, HSD3B2, HSPA9, HSPG2, HTRA2, HYAL1, HYLS1, IARS1, IARS2, IBA57, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT80, IGBP1, IGF1, IGF1R, IGF2, IGFALS, IGHMBP2, IHH, IKBKG, IL17RD, IL21, INPP5K, INPPL1, INS, INSR, INVS, IQCB1, IQSEC2, ITGB4, ITGB6, ITPA, IYD, JAG1, JAGN1, JMJD1C, KANSL1, KAT6B, KCNAB2, KCNJ1, KCNJ10, KCNJ11, KCNJ6, KDM1A, KDM5C, KDM6A, KDSR, KIAA0556, KIF11, KIF14, KIF1A, KIF22, KIF23, KIF2A, KIF5C, KIF7, KIFBP, KISS1, KISS1R, KLF1, KLLN, KMT2A, KMT2B, KMT2D, KNL1, KRAS, KRT14, KRT5, L1CAM, LAGE3, LAMA3, LAMB3, LAMC2, LAMTOR2, LARGE1, LARP7, LARS2, LAS1L, LBR, LEMD3, LEPR, LETM1, LFNG, LHX1, LHX3, LHX4, LIAS, LIFR, LIG4, LIMK1, LINS1, LIPA, LIPN, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRBA, LRP5, LTBP2, LTBP3, LZTFL1, LZTR1, MAB21L2, MAD2L2, MAF, MAGEL2, MALT1, MAN2B1, MAP2K1, MAP2K2, MAP3K1, MAP3K7, MAPK1, MAPRE2, MARS2, MASP1, MATN3, MBD5, MBTPS2, MCM4, MCM9, MCPH1, MCTP2, MECP2, MED12, MEIS2, MEN1, MESP2, MFSD2A, MGAT2, MGP, MKKS, MKRN3, MKS1, MLXIPL, MLYCD, MMP1, MMP13, MMP2, MMP9, MMUT, MOCS1, MOCS2, MPL, MPLKIP, MPV17, MRPS22, MSMO1, MTFMT, MTOR, MUSK, MVK, MYH3, MYH8, MYMK, MYO18B, MYO5B, MYOD1, NAA10, NALCN, NAT8L, NBAS, NBN, NDE1, NDN, NDP, NDST1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NEK9, NELFA, NEU1, NEXMIF, NF1, NHEJ1, NHP2, NIN, NIPAL4, NIPBL, NKX2-1, NKX2-5, NKX2-6, NKX3-2, NLRC4, NLRP1, NLRP3, NODAL, NOG, NONO, NOP10, NOTCH2, NOTCH3, NPAP1, NPHP1, NPHP3, NPHP4, NPHS1, NPR2, NR0B1, NR5A1, NRAS, NRTN, NSD1, NSD2, NSDHL, NSMCE2, NSMF, NSUN2, NUBPL, NUP107, NUS1, OBSL1, OCRL, OFD1, OGDH, ORAI1, ORC1, ORC4, ORC6, OSGEP, OTUD6B, OTX2, P3H1, P4HB, PAFAH1B1, PAH, PALB2, PAM16, PAPSS2, PARN, PAX1, PAX6, PAX8, PCCA, PCCB, PCLO, PCNA, PCNT, PCSK1, PCYT1A, PDE11A, PDE3A, PDE4D, PDE6D, PDE8B, PDGFB, PDGFRB, PDX1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP3, PHC1, PHEX, PHF21A, PHF6, PHGDH, PHKA2, PHKB, PHKG2, PIEZO1, PIEZO2, PIGG, PIGO, PIGY, PIK3CA, PIK3R1, PITX2, PKLR, PLAGL1, PLEC, PLK4, PLOD2, PLOD3, PLP1, PMPCA, PNPLA1, PNPLA2, PNPLA6, PNPLA8, PNPT1, POC1A, POF1B, POGZ, POLE, POLR1A, POLR3A, POLR3B, POMC, POR, PORCN, POU1F1, PPIB, PPM1B, PPM1D, PPP1CB, PPP1R15B, PQBP1, PRDM16, PREPL, PRKACA, PRKAR1A, PRKDC, PRMT7, PROK2, PROKR2, PROP1, PRPS1, PSAT1, PSMB8, PSMC3IP, PSPH, PTDSS1, PTEN, PTH1R, PTHLH, PTPN11, PTPN22, PTRH2, PUF60, PUS1, PYCR1, PYCR2, PYGL, RAB18, RAB23, RAB33B, RAB3GAP1, RAB3GAP2, RAD21, RAD50, RAD51, RAD51C, RAF1, RAI1, RAP1A, RAP1B, RAPSN, RASA2, RB1, RBBP8, RBCK1, RBM10, RBM28, RBM8A, RDH11, RECQL4, RERE, RET, RFC2, RFT1, RFX6, RIN2, RIPK4, RIPPLY2, RIT1, RNASEH2A, RNF113A, RNF168, RNF216, ROBO1, ROGDI, ROR2, RPGRIP1L, RPL10, RPL11, RPL15, RPL18, RPL26, RPL27, RPL35, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS23, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RRAS, RREB1, RSPH4A, RSPH9, RSPRY1, RTEL1, RTTN, RUNX2, SALL1, SALL4, SAMD9, SAR1B, SASS6, SATB2, SBDS, SC5D, SCARB2, SCN4A, SDCCAG8, SDHA, SDHAF1, SDHB, SDHC, SDHD, SEC23A, SEC23B, SEC24C, SEC24D, SEC61A1, SELENON, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEMA5A, SERPINH1, SETBP1, SETD2, SETD5, SF3B4, SFXN4, SH2B1, SH3PXD2B, SHH, SHOC2, SHOX, SHPK, SHROOM4, SIL1, SIM1, SIN3A, SIX6, SKI, SKIV2L, SLC10A2, SLC12A1, SLC13A5, SLC17A5, SLC19A2, SLC20A2, SLC25A13, SLC26A2, SLC26A3, SLC26A4, SLC29A3, SLC2A1, SLC34A1, SLC34A3, SLC35C1, SLC35D1, SLC37A4, SLC39A13, SLC39A4, SLC39A8, SLC3A1, SLC4A1, SLC4A4, SLC5A5, SLC6A19, SLC6A8, SLC7A7, SLC9A1, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMG9, SMOC1, SMPD1, SMS, SNAP29, SNRPB, SNRPN, SNX10, SON, SOS1, SOS2, SOST, SOX10, SOX11, SOX2, SOX3, SOX9, SP7, SPARC, SPART, SPIDR, SPINK5, SPR, SPRTN, SPRY4, SRCAP, SRY, STAC3, STAMBP, STAT1, STAT3, STAT5B, STEAP3, STIL, STIM1, STING1, STN1, STRA6, STS, STT3B, STX16, SUCLA2, SUCLG1, SULT2B1, SUMF1, TAC3, TACR3, TAF1, TAF13, TAF6, TALDO1, TAPT1, TAT, TAZ, TBC1D20, TBCE, TBL1XR1, TBL2, TBR1, TBX1, TBX15, TBX22, TBX3, TBX4, TBX6, TCF4, TCIRG1, TCTEX1D2, TCTN3, TECPR2, TERT, TFAM, TFAP2A, TG, TGDS, TGFB1, TGFB3, TGM1, THOC2, THRA, TIMMDC1, TINF2, TKT, TMCO1, TMEM126B, TMEM165, TMEM216, TMEM237, TMEM67, TMEM70, TNFSF11, TNNI2, TNNT3, TP53RK, TP63, TPM2, TPO, TPRKB, TRAF3IP1, TRAIP, TRAPPC11, TRAPPC2, TRH, TRHR, TRIM32, TRIM37, TRIP11, TRIP13, TRMT10A, TRNT1, TRPS1, TRPV4, TSFM, TSHB, TSHR, TSPYL1, TSR2, TTC21B, TTC37, TTC7A, TTC8, TTI2, TUBB, TUBB2B, TUBGCP4, TUBGCP6, TUFM, TWIST1, TWIST2, TXNL4A, UBA5, UBE2T, UBE3A, UBE3B, UBR1, UFD1, UNC80, UQCC2, UQCC3, UROC1, UROS, USB1, USP9X, VAMP7, VCP, VDR, VLDLR, VPS13A, VPS13B, VPS53, WASHC4, WASHC5, WDPCP, WDR11, WDR19, WDR34, WDR35, WDR60, WDR62, WDR73, WDR81, WFS1, WNT1, WNT4, WNT5A, WNT7A, WRAP53, WRN, WT1, WWOX, XPA, XPC, XPR1, XRCC2, XRCC4, XYLT1, XYLT2, YARS2, YME1L1, YWHAE, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZEB2, ZFP57, ZFPM2, ZMPSTE24, ZNF148, ZNF335, ZNF592, ZNF81

Síndrome de Pendred

6 genes

FOXI1, KCNJ10, SLC26A3, SLC26A4, SLC5A5, TPO

Talla baja

46 genes

ATRX, BLM, BTK, CREBBP, CUL7, DHCR7, EP300, ERCC6, ERCC8, FGD1, GH1, GHR, GHRHR, GLI2, HESX1, IGF1, IGF1R, INSR, KDM6A, KMT2D, KRAS, LHX3, NBN, NIPBL, PITX2, POU1F1, PROP1, PTPN11, RAF1, ROR2, RPS6KA3, SHOX, SMARCAL1, SMC1A, SMC3, SOS1, SOX2, SOX3, SRCAP, STAT5B, TBCE, THRB, TRIM37, WRN

Talla baja no proporcionada

91 genes

ACAN, ACP5, AGPS, ALPL, ARCN1, ARSB, ASXL1, B3GAT3, B3GLCT, BGN, BMPER, BMPR1B, CANT1, CHST3, COG1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COMP, CRTAP, DDR2, DHCR24, DHCR7, DLL3, DVL1, DYM, DYNC2H1, DYNC2LI1, EBP, EVC, EVC2, EXTL3, FGFR1, FGFR3, FLNB, FZD2, GALNS, GDF5, GLB1, GNPAT, GPC6, GPX4, GSC, HDAC6, HSPG2, IFT122, IFT43, IFT52, IFT80, IHH, INPPL1, LBR, MAB21L2, MATN3, MESP2, MMP13, MTOR, NKX3-2, NPR2, NSMCE2, P3H1, PCNT, PCYT1A, PEX7, POC1A, PPIB, PRKAR1A, PTH1R, RAB33B, ROR2, SHOX, SLC26A2, SLC35D1, SMARCAL1, SOX9, TBX15, TBX6, TRAPPC2, TRIP11, TRPV4, WDR19, WDR34, WDR35, WDR60, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2

Trastornos del desarrollo sexual

151 genes

AIRE, AKR1C2, AKR1C4, AMH, AMHR2, ANOS1, AR, ARL6, ARX, ATRX, AURKC, AXL, B3GLCT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BMP15, BMP4, CATSPER1, CBX2, CCDC141, CCNQ, CDKN1C, CEP41, CFTR, CHD4, CHD7, CILK1, CREBBP, CUL4B, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DHCR24, DHCR7, DHH, DMRT1, DMRT2, DNMT3B, DUSP6, DYNC2H1, ESCO2, FAT4, FEZF1, FGF17, FGF8, FGFR1, FGFR2, FIG4, FIGLA, FLRT3, FOXL2, FRAS1, FREM2, FSHB, FSHR, GATA4, GNRH1, GNRHR, GRIP1, HCCS, HESX1, HFE, HHAT, HOXA13, HS6ST1, HSD17B3, HSD17B4, HSD3B2, IL17RD, INSL3, IRF6, KISS1, KISS1R, KLHL10, LEP, LEPR, LHB, LHCGR, LHX3, LHX4, LMNA, MAMLD1, MAP3K1, MCM9, MKKS, MKS1, NEK1, NOBOX, NR0B1, NR3C1, NR5A1, NSMF, OPHN1, PCSK1, POR, PROK2, PROKR2, PROP1, PSMC3IP, PTPN11, RIPK4, ROR2, RSPO1, SALL1, SEMA3A, SEMA3E, SETBP1, SOHLH1, SOS1, SOX10, SOX2, SOX3, SOX9, SPATA16, SPECC1L, SPRY4, SRA1, SRD5A2, SRY, STAR, SYCE1, TAC3, TACR3, TAF4B, TBX15, TOE1, TRAIP, TRIM32, TSPYL1, TTC8, TWIST2, UBR1, WDR11, WDR60, WNT4, WNT5A, WNT7A, WT1, WWOX, ZFPM2, ZP1

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