



Endocrine/metabolic

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