LOCALIZACION DE GENES (listado recopilatorio por locus del cromosomas)
https://www.orpha.net/consor/cgi-bin/index.php
https://www.orpha.net/consor/cgi-bin/Disease.php?lng=ES
https://www.orpha.net/consor/cgi-bin/Directory_Contact.php?lng=ES
https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES&search=Disease_Search_List

p => brazo corto del cromosoma (de petit, el de arriba, empezando porr encima del centromero)
q => Brazo largo del cromosoma (de queue, el de abajo, empezando por debajo del centromero hasta el 
CFTR - 7q31.2. Se lee del siguiente modo: está localizado en el cromosoma 7 y la letra q determina que es el brazo largo. El número 3 indica la región, el 1 la banda y el 2 la sub-banda.
OCA1 - 11q14-q21  está en el brazo largo del cromosoma 11, en algún lugar del ámbito de la banda 4 de la región 1 y de la banda 1 de la región 2

Locus  Gen       Caracteristica
https://cefegen.es/blog/lista-de-genes-humanos-mas-estudiados
AKT1: El gen AKT1 codifica una proteína señalizadora que fosforila a otras proteínas para activarlas.
ESR1: ESR1 codifica para un receptor de estrógenos. Se ha descubierto que mutaciones de este gen están presentes en casos de cáncer de mama y de ovarios.
MTHFR: La metilentetrahidrofolato reductasa ayuda en el metabolismo de los aminoácidos. Mutaciones en MTHFR puede causar a trastornos genéticos graves como la homocistinuria
TGFB1: TGFB1 es el factor de crecimiento transformante beta 1, una proteína que controla la proliferación y diferenciación celular.
IL6: La interleucina 7 juega un papel importante en la respuesta inmune. Actúa sobre los progenitores linfoide inmaduros, induciendo su desarrollo.
APOE: La apolipoproteina E tiene un rol destacado en el metabolismo de lípidos y colesterol. Según se descubrió recientemente el alelo APOE-e4 confiere un mayor riesgo de desarrollar Alzheimer.
VEGFA: VEGFA es el factor A de crecimiento endotelial. Su función es promover el crecimiento de los vasos sanguíneos.
EGFR: El receptor de factores de crecimiento epitelial es un receptor unido a la membrana celular y a menudo está mutado en cánceres resistentes a fármacos.
TNF: El factor de necrosis tumoral ha sido la diana de medicamentos dirigidos contra el cáncer y contra enfermedades inflamatorias.
TP53: Es el gen es un supresor de tumores y es se le conoce como el “guardián del genoma” por su importancia en el desarrollo del cáncer. Y es que este gen está mutado en aproximadamente la mitad de todos los cánceres humanos.

https://revistapesquisa.fapesp.br/es/los-diez-genes-mas-estudiados/
TP53 Pesenta mutaciones en la mitad de los casos de cancer
TNF Blanco de posibles terapias contra el cancer y enfemedades autoinmunes
...

https://www.apunts.org/es-genetica-deporte-articulo-X0213371709398415
3p21-23 SCNSA: QT largo 3
11q23   SCN4B: QT largo 10
...

https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_1
1p22 ABCA4: Enfermedad de Stargardt
    ACTA1
    ADCK3 Transferencia de electrones en la cadena respiratoria
    AKT3
    AP4B1 El tráfico mediado por complejos AP4 juega un papel crucial en el desarrollo y funcionamiento del cerebro
1p35.3 ARID1A codifica una proteína de la familia SWI/SNF
    ASPM
    ATF3
    ATF6
    ATP1B1
    BLZF1
    CA14
    CACYBP
    CD1
    CD2
    CD16
    CD34
    CD5L
    CDC14A
    CRTC2
    DDX59
    DUSP10
    DVL1
    E2F2
    EIF3I
    ELK4
    ELOA
    FBLIM1
    FHL3
    FMO2
    FMO5
    FUBP1
    GADD45A
    GATAD2B
    GJA8
    GJB4
    GLMN
    GLUT5
    GPR61
    H6PD
    HBXIP
    HMGN2
    HNRPU
    HSD3B1
    HSD3B2
    IPO9
    ITGB3BP
    KCNC4
    KCNK1
    KIF2C
    LIN9
    LSM10
    LYST
    MAPKAPK2
    MARC2
    Mdm4
    MEF2D
    MGST3
    MIER1
    MKNK1
    NEK2
    NTRK1
    NUCKS1
    NUF2
    OR2M2
    OR10J1
    ORC1L
    PADI2
    PADI4
    PCSK9
    PEA15
    PEX10
    PFKFB2
    PIK3R3
    PKA
    PKB
    PLCH2
    PLXNA2
1q21.3 POGZ Autisno. La mutación heterocigótica de POGZ causa el síndrome de White-Sutton
    POU2F1
    PPP1R8
    PRDM2
    PSEN2
    PTGS2
    PTP4A2
    PTPN7
    RBBP5
    RGS5
    RGS13
    RHBG
    RNF11
    RPA2
    RPL11
    RPS6KA1
    RUNX3
    S100A11
    SCYL3
    SETDB1
    SFRS11
    SMG5
    SPEN
    TAL1
    TFIIB
    TSHB
    UAP1
    UQCRH
    VAV3
    WNT3A
    ZBTB7B
    ZC3H11A
    ZNF436
    ZP-4
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_2
    ABCG8
    ADD2
    ALS2CR8
    ASCC3L1
    DARS
    DDEF2
    IL1F10
    IMMT
    KCNK12
    LYPD1
    MTHFD2
    NOP58
    PTPN18
    RDH14
    REEP1
    SH3BP4
    SIX2
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_3
    ATP13A3
    B4GALT4
    COPB2
    EIF1B
    IHPK2
    KIAA1257
    LRIG1
    MTMR14
    NLGN1
    PCYT1A
    RBP2
    RETNLB
    SRPRB
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_4
    ADD1
    GABRB1
    GPR78
    GRK4
    LETM1
    MXD4
    PTPN13
    RGS12
    SLIT2
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_5
    CACNA2D2
    CADPS
    CDH6
    CRHBP
    FYB
    G3BP1
    GPBP1
    ITK
    NOLA2
    P4HA2
    PCDHB2
    PFDN1
    PITX1
    SLC27A6
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_6
    AIG1
    FLOT1
    KCNQ5
    MRPL18
    MRPS18A
    NOL7
    OR12D2
    OR12D3
    OR2H1
    OR2H2
    OR2B6
    PHF3
    PPP1R11
    RAET1E
    SEC63
    SSR1
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_7
    AP4M1
    ARF5
    CLDN12
    EIF4H
    FSCN3
    GPR22
    GPR85
    HOXA4
    ING3
    LRCH4
    MCM7
    RNF216
    LAT2
    LMBR1
    LMTK2
    MPP6
    NRCAM
    PFTK1
    PURB
    RBM28
    RBM33
    RINT1
    SFRP4
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_8
    KIAA0196
    KIAA1967
    PDLIM2
    SNTB1
    SNTG1
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_9
    ADAM18
    ADAM9
    ASB6
    ATP6V1G1
    CLIC3
    ENTPD2
    FREM1
    GAPVD1
    GBA2
    KIAA0368
    LHX6
    NR5A1
    OR13C8
    RCL1
    SEMA4D
    STRBP
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_10
    ACSL5
    ADD3
    AP3M1
    CEP55
    CUGBP2
    EPC1
    GRID1
    IFIT1
    KCNK18
    KIAA0157
    MCM10
    MTG1
    PHYHIPL
    RAB18
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_11
    CCDC85B
    CD151
    DDX10
    DGKZ
    EHD1
    HIPK3
    IFITM3
    KCNK4
    MRPL11
    MRPL23
    MS4A7
    NAP1L4
    NRXN2
    OSBPL5
    OTUB1
    P2RY2
    PACSIN3
    PCSK7
    PHF21A
    POLR2G
    PTPRJ
    RAD9A
    RBM14
    ROM1
    RPS6KA4
    SCYL1
    SIGIRR
    SNX15
    SOX6
    SPA17
    SWAP70
    TAF10
    TIMM10B
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_12
    ATP5B
    CCDC63
    DGKA
    DNAJC14
    IFFO1
    LRP6
    NAB2
    NUDT4
    PCTK2
    POP5
    SART3
    STK38L
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_13
    CKAP2
    GPR183
    INTS6
    KLF12
    KLF5
    MBNL2
    PCDH17
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_14
    GPR135
    ITPK1
    IRF9
    LGMN
    MAP4K5
    OTUB2
    PELI2
    RAB15
    RDH11
    RNF31
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_15
    CLN6
    GCHFR
    LRRK1
    MFGE8
    PDCD7
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_16
    BRD7
    CD43
    HSF4
    NDE1
    NLRC5
    NOB1
    NTHL1
    ORC6
    PIGQ
    PRKCB1
    RRAD
    SEPX1
    SH2B1
    SMPD3
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_17
    ATP5G1
    CCDC55
    DRG2
    ERN1
    FLII
    FN3KRP
    GNGT2
    HEXIM2
    HOXB3
    MMP28
    NAT9
    OR1G1
    P2RX5
    POLDIP2
    SECTM1
    SECISBP2
    SLC25A39
    SNF8
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_18
    CXXC1
    MEP1B
    MIB1
    NOL4
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_19
    GPR77
    GRIN2D
    INSR
    KDM4B
    KLF2
    LPAR2
    P2RY11
    RANBP3
    RPL36
    SIX5
    SNX26
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_20
    CDK5RAP1
    CPXM1
    FERMT1
    HM13
    INSM1
    LYPD3
    L3MBTL
    MMP24
    MROH8
    NAT5
    NFS1
    NOL5A
    RASSF2
    SIRPB1
    SLC23A2
    STAU1
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_21
    CCT8
    IFNAR2
    MRPS6
    PAXBP1
    RRP1
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_22
    CPSF4
    CRELD2
    GNB1L
    HIC2
    MAP3K7IP1
    MAPK1
    MCM5
    NCF4
    PARVB
    PI4KA
    PPIL2
    RANBP1
    VPREB3
https://es.wikipedia.org/wiki/Anexo:Genes_por_cromosoma#Genes_del_cromosoma_X
    ARR3
    GLRA2
    MXRA5
    PHF16



1p34         KCNQ4
1p35.3       GJB3
1p36.31      ESPN

2p22-p23     OTOF

3p21         TMIE

4p16.1       WFS1
4q21.3       DSPP

5q31         POU4F3
5q31         DIAPH1

6q13         MYO6
6p21         COL11A2
6q22-q23     EYA4

7p15         DFNA5
7q31         SLC26A4
7q31.2       CFTR

8q22         TFCP2L3

9q13-q21     TMC1
9q32-q34     DFN31

10p11.1      MYO3A
10q21-q22    CDH23

11p15.1      USH1C
11q12.3-13.5 MYO7A
11q14-q21    OCA1
11q21        MYO7A
11q22-q24    TECTA

12q13-q14    MYO1

13q11-q11.2  GJB2
13q12        GJB6

14q12-q13    COCH

15q15        STRC

16p12.2      OTOA

17p11.2      MYO15
17q25        ACTG1

18

19q13        MYH14

20

21q22.3      CLDN14
21q22.3      TMPRSS3

22q11.2      MYH9

Xq21.1       POU3F4

Y

PRINCIPALES GENES (listado alfabeico de los mas relevantes en enfermedades y afecciones) (https://euroespes.com/wp-content/uploads/2021/05/Catalogo_Pruebas_Geneticas.pdf [=.pdf])
A2M     alpha-2-macroglobulin
AAAS    aladin WD repeat nucleoporin
ABCA12  ATP binding cassette subfamily A member 12
ABCA4   ATP binding cassette subfamily A member 4
ABCB1   ATP binding cassette subfamily B member 1 (MDR/TAP)
ABCC2   ATP binding cassette subfamily C member 2
ABCC6   ATP binding cassette subfamily C member 6
ABCC8   ATP binding cassette subfamily C member 8
ABCD1   ATP binding cassette subfamily D member 1
ABCG2   ATP binding cassette subfamily G member 2
ACAD8   acyl-CoA dehydrogenase family member 8
ACADM   acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACAT1   acetyl-CoA acetyltransferase 1

ACE      angiotensin I converting enzyme
ACTA1    actin, alpha 1, skeletal muscle
ACTA2    actin, alpha 2, smooth muscle, aorta
ACTC1    actin, alpha, cardiac muscle 1
ACVR1    activin A receptor type 1
ACVRL1   activin A receptor like type 1
ADA      adenosine deaminase
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13
ADAMTS2  ADAM metallopeptidase with thrombospondin type 1 motif 2
ADH1B    alcohol dehydrogenase 1B (class I), beta polypeptide
ADRA2A   adrenoceptor alpha 2A
ADRB2    adrenoceptor beta 2
ADRB3    adrenoceptor beta 3
AGL      amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2   1-acylglycerol-3-phosphate O-acyltransferase 2
AGPS     alkylglycerone phosphate synthase
AGT      angiotensinogen
AGXT     alanine-glyoxylate aminotransferase
AICDA    activation induced cytidine deaminase
AIP      aryl hydrocarbon receptor interacting protein
AIRE     autoimmune regulator
ALAS2    5'-aminolevulinate synthase 2
ALDH3A2  aldehyde dehydrogenase 3 family member A2
ALDH7A1  aldehyde dehydrogenase 7 family member A1
ALDOB    aldolase, fructose-bisphosphate B
ALMS1    centrosome and basal body associated protein
ALS2     alsin Rho guanine nucleotide exchange factor
AMPD1    adenosine monophosphate deaminase 1
ANKK1    ankyrin repeat and kinase domain containing 1
APC      WNT signaling pathway regulator
APOA2    apolipoprotein A2
APOA5    apolipoprotein A5
APOB     apolipoprotein B
APOC2    apolipoprotein C2
APOC3    apolipoprotein C3
APOE     apolipoprotein E
APP      amyloid beta precursor protein
APTX     aprataxin
AQP2     aquaporin 2
AR       androgen receptor
ARHGEF9  Cdc42 guanine nucleotide exchange factor 9
ARMS2    age-related maculopathy susceptibility 2
ARSA     arylsulfatase A
ARSB     arylsulfatase B
ARSE     arylsulfatase E (chondrodysplasia punctata 1)
ARX      aristaless related homeobox
ASAH1    N-acylsphingosine amidohydrolase 1
ASS1     argininosuccinate synthase 1
ATM      serine/threonine kinase
ATP1A3   ATPase Na+/K+ transporting subunit alpha 3
ATP2A2   ATPase sarcoplasmic/endoplasmic reticulum Ca2+
ATP6V0A4 ATPase H+ transporting V0 subunit a4
ATP6V1A1 ATPase H+ transporting V1 subunit A [Homo sapiens
ATP7A    ATPase copper transporting alpha [Homo sapiens
ATP7B    ATPase copper transporting beta
ATR      serine/threonine kinase
ATRX     chromatin remodeler
AVPR2    arginine vasopressin receptor 2
AZF1     azoospermia factor 1
B3GALTL  beta 3-glucosyltransferase
B4GALT7  beta-1,4-galactosyltransferase 7
BBS1     Bardet-Biedl syndrome 1
BCHE     butyrylcholinesterase
BCL6     corepressor
BCOR     corepressor
BEST1    bestrophin 1
BMP15    bone morphogenetic protein 15
BMPR1A   bone morphogenetic protein receptor type 1A
BMPR1B   bone morphogenetic protein receptor type 1B
BMPR2    bone morphogenetic protein receptor type 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 BRCA1, DNA repair associated
BRCA2 BRCA2, DNA repair associated
BSND barttin CLCNK type accessory beta subunit
BTD biotinidase
BTK Bruton tyrosine kinase
C1NH serpin family G member 1
C3 complement C3
C7ORF11 M-phase specific PLK1 interacting protein
CA2 carbonic anhydrase 2
CABC1 coenzyme Q8A
CACNA1A calcium voltage-gated channel subunit alpha1 A
CACNA1F calcium voltage-gated channel subunit alpha1 F
CACNA1S calcium voltage-gated channel subunit alpha1 S
CACNB4 calcium voltage-gated channel auxiliary subunit beta 4
CAPN3 calpain 3
CASR calcium sensing receptor
CAV3 caveolin 3
CBS cystathionine-beta-synthase
CCM1 KRIT1, ankyrin repeat containing
CD19 CD19 molecule
CD3D CD3d molecule
CD40 CD40 molecule
CD40LG CD40 ligand
CDAN1 codanin 1
CDC73 cell division cycle 73
CDH1 cadherin 1
CDK4 cyclin dependent kinase 4
CDKL5 cyclin dependent kinase like 5
CDKN2A cyclin dependent kinase inhibitor 2A
CDKN2B cyclin dependent kinase inhibitor 2B
CETP cholesteryl ester transfer protein
CFH complement factor H
CFTR cystic fibrosis transmembrane conductance regulator
CHAT choline O-acetyltransferase
CHD7 chromodomain helicase DNA binding protein 7
CHEK2 checkpoint kinase 2
CHIT1 chitinase 1
CHM CHM, Rab escort protein 1
CHRNA1 cholinergic receptor nicotinic alpha 1 subunit
CHRNA4 cholinergic receptor nicotinic alpha 4 subunit
CHRNA7 cholinergic receptor nicotinic alpha 7 subunit
CHRNE cholinergic receptor nicotinic epsilon subuni
CHST3 carbohydrate sulfotransferase
CHST6 carbohydrate sulfotransferase 6
CIITA class II major histocompatibility complex transactivator
CISD2 CDGSH iron sulfur domain 2
CLCN1 chloride voltage-gated channel 1
CLCN5 chloride voltage-gated channel 5
CLCN7 chloride voltage-gated channel 7
CLCNKB chloride voltage-gated channel Kb
CLDN16 claudin 16
CLN1 PPT1, palmitoyl-protein thioesterase 1
CLOCK clock circadian regulator
CLRN1 clarin 1
CNBP CCHC-type zinc finger nucleic acid binding protein
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
COH1 VPS13B, vacuolar protein sorting 13 homolog B
COL10A1 collagen type X alpha 1 chain
COL1A1 collagen type I alpha 1 chain
COL1A2 collagen type I alpha 2 chain
COL2A1 collagen type II alpha 1 chain
COL3A1 collagen type III alpha 1 chain
COL4A3 collagen type IV alpha 3 chain
COL4A5 collagen type IV alpha 5 chain
COL5A1 collagen type V alpha 1 chain
COL6A1 collagen type VI alpha 1 chain
COL6A2 collagen type VI alpha 2 chain
COL6A3 collagen type VI alpha 3 chain
COL7A1 collagen type VII alpha 1 chain
COL9A1 collagen type IX alpha 1 chain
COLQ collagen like tail subunit of asymmetric acetylcholinesterase
COMP cartilage oligomeric matrix protein
COMT catechol-O-methyltransferase
COX III MTCO3, mitochondrially encoded cytochrome c oxidase III
CP ceruloplasmin
CPOX coproporphyrinogen oxidase
CPT1A carnitine palmitoyltransferase 1A
CREBBP CREB binding protein
CRLF1 cytokine receptor like factor 1
CRX cone-rod homeobox
CTNS cystinosin, lysosomal cystine transporter
CTRC chymotrypsin C
CTSK cathepsin K
CUBN cubilin
CUL7 cullin 7
CYBA cytochrome b-245 alpha chain
CYBB cytochrome b-245 beta chain
CYP11B1 cytochrome P450 family 11 subfamily B member 1
CYP11B2 cytochrome P450 family 11 subfamily B member 2
CYP17A1 cytochrome P450 family 17 subfamily A member 1
CYP19A1 cytochrome P450 family 19 subfamily A member 1
CYP1A2 cytochrome P450 family 1 subfamily A member 2
CYP1B1 cytochrome P450 family 1 subfamily B member 1
CYP21A2 cytochrome P450 family 21 subfamily A member 2
CYP27A1 cytochrome P450 family 27 subfamily A member 1
CYP2A6 cytochrome P450 family 2 subfamily A member 6
CYP2B6 cytochrome P450 family 2 subfamily B member 6
CYP2C19 cytochrome P450 family 2 subfamily C member 19
CYP2C9 cytochrome P450 family 2 subfamily C member 9
CYP2D6 cytochrome P450 family 2 subfamily D member 6
CYP3A4 cytochrome P450 family 3 subfamily A member 4
CYP3A5 cytochrome P450 family 3 subfamily A member 5
CYP4F22 cytochrome P450 family 4 subfamily F member 22
DAP12 TYRO, protein tyrosine kinase binding protein
DAX1 NR0B1, nuclear receptor subfamily 0 group B member 1
DCLRE1C DNA cross-link repair 1C
DCX doublecortin
DHCR7 7-dehydrocholesterol reductase
DJ1 PARK7, Parkinsonism associated deglycase
DKC1 dyskerin pseudouridine synthase 1
DLL3 delta like canonical Notch ligand 3
DMD dystrophin
DMPK dystrophia myotonica protein kinase
DNAH5 dynein axonemal heavy chain 5
DOCK8 dedicator of cytokinesis 8
DOK7 docking protein 7
DPYD dihydropyrimidine dehydrogenase
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
DRPLA ATN1, atrophin 1
DSPP dentin sialophosphoprotein
DTNA dystrobrevin alpha
DYSF dysferlin
EBP emopamil binding protein (sterol isomerase)
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARDD EDAR associated death domain
EFEMP2 EGF containing fibulin like extracellular matrix protein 2
EFHC1 EF-hand domain containing 1
EFNB1 ephrin B1
EGR2 early growth response 2
EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon
ELA2 ELANE, elastase, neutrophil expressed
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EMD emerin
EMX2 empty spiracles homeobox 2
endoribonuclease
ENG endoglin
EPAS1 endothelial PAS domain protein 1
EPCAM epithelial cell adhesion molecule
EPM1A CSTB, cystatin B
EPM1B PRICKLE1, prickle planar cell polarity protein 1
EPM2A EPM2A, laforin glucan phosphatase
ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit
ERCC6 ERCC excision repair 6, chromatin remodeling factor
ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
F11 coagulation factor XI
F12 coagulation factor XII
F2 coagulation factor II, thrombin
F5 coagulation factor V
F7 coagulation factor VII
F8 coagulation factor VIII
F9 coagulation factor IX
FABP2 fatty acid binding protein 2
FAH fumarylacetoacetate hydrolase
FAM123B AMER1, APC membrane recruitment protein 1
FANCA Fanconi anemia complementation group A
FANCC Fanconi anemia complementation group C
FANCG Fanconi anemia complementation group G
FAS Fas cell surface death receptor
FBN1 fibrillin 1
FBN2 fibrillin 2
FBP1 fructose-bisphosphatase 1
FCGR3A Fc fragment of IgG receptor IIIa
FECH ferrochelatase
FERMT1 fermitin family member 1
FGA ibrinogen alpha chain
FGB fibrinogen beta chain
FGD1 FYVE, RhoGEF and PH domain containing 1
FGD4 FYVE, RhoGEF and PH domain containing 4
FGF8 fibroblast growth factor 8
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGG fibrinogen gamma chain
FHM1 CACNA1A, calcium voltage-gated channel subunit alpha1 A
FIC1 ATP8B1, ATPase phospholipid transporting 8B1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLCN folliculin
FLG filaggrin
FLNA filamin A
FLNB filamin B
FLT4 fms related tyrosine kinase 4
FMO3 flavin containing monooxygenase 3
FMR1 fragile X mental retardation 1
FOXC2 forkhead box C2
FOXE1 forkhead box E1
FOXL2 forkhead box L2
FOXP3 forkhead box P3
FRAS1 Fraser extracellular matrix complex subunit 1
FRDA FXN, frataxin
FTL ferritin light chain
FTO FTO, alpha-ketoglutarate dependent dioxygenase
FXYD2 FXYD domain containing ion transport regulator 2
FZD4 frizzled class receptor 4
G6PC glucose-6-phosphatase catalytic subunit
G6PD glucose-6-phosphate dehydrogenase
GAA glucosidase alpha, acid
GABRA1 gamma-aminobutyric acid type A receptor alpha1 subunit
GALC galactosylceramidase
GALE UDP-galactose-4-epimerase
GALK1 galactokinase 1
GALNS galactosamine (N-acetyl)-6-sulfatase
GALT galactose-1-phosphate uridylyltransferase
GAMT guanidinoacetate N-methyltransferase
GARS glycyl-tRNA synthetase
GATA2 GATA binding protein 2
GBA glucosylceramidase beta
GBE1 1,4-alpha-glucan branching enzyme 1
GCDH glutaryl-CoA dehydrogenase
GCH1 GTP cyclohydrolase 1
GCK glucokinase
GDAP1 ganglioside induced differentiation associated protein 1
GDF3 growth differentiation factor 3
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GENÉTICA Y FARMACOGENÉTICA 2021 43
GENÉTICA Y FARMACOGENÉTICA 2021 44
GENÉTICA Y FARMACOGENÉTICA 2021 46
GENES
GENES
GENES
GENES (ORDEN ALFABÉTICO)
GENES (ORDEN ALFABÉTICO)
GENES (ORDEN ALFABÉTICO)
GFAP glial fibrillary acidic protein
GFI1 growth factor independent 1 transcriptional repressor
GH1 growth hormone 1
GHR growth hormone receptor
GJA1 gap junction protein alpha 1
GJB1 gap junction protein beta 1
GJB2 gap junction protein beta 2
GJB3 gap junction protein beta 3
GJB6 gap junction protein beta 6
GJC2 gap junction protein gamma 2
GLA galactosidase alpha
GLB1 galactosidase beta 1
GLDC glycine decarboxylase
GLI3 GLI family zinc finger 3
GLIS2 GLIS family zinc finger 2
GLMN glomulin, FKBP associated protein
GLRA1 glycine receptor alpha 1
GNAS GNAS complex locus
GNPAT glyceronephosphate O-acyltransferase
GNRHR gonadotropin releasing hormone receptor
GNS glucosamine (N-acetyl)-6-sulfatase
GP9 glycoprotein IX platelet
GPC3 glypican 3
GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
GPR143 G protein-coupled receptor 143
GPR56 ADGRG1, adhesion G protein-coupled receptor G1
GRHPR glyoxylate and hydroxypyruvate reductase
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GUCY2D guanylate cyclase 2D, retinal
GUSB glucuronidase beta
GYS2 glycogen synthase 2
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HAX1 HCLS1 associated protein X-1
HBB hemoglobin, beta
HD HTT, huntingtin
HESX1 HESX homeobox 1
HEXA hexosaminidase subunit alpha
HEXB hexosaminidase subunit beta
HFE hemochromatosis
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HLA-B major histocompatibility complex, class I, B
HLCS holocarboxylase synthetase
HMBS hydroxymethylbilane synthase
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HNF4A hepatocyte nuclear factor 4, alpha
HOGA1 4-hydroxy-2-oxoglutarate aldolase 1
HOXD13 homeobox D13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPRT1 hypoxanthine phosphoribosyltransferase 1
HPS1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
HR HR, lysine demethylase and nuclear receptor corepressor
HRAS HRas proto-oncogene, GTPase
HSD17B3 hydroxysteroid 17-beta dehydrogenase 3
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid
HSPB1 heat shock protein family B (small) member 1
HSPB8 heat shock protein family B (small) member 8
HSPG2 heparan sulfate proteoglycan 2
HYAL1 hyaluronoglucosaminidase 1
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-LIFNL3
IFT80 intraflagellar transport 80
IGF1R insulin like growth factor 1 receptor
IHH indian hedgehog
IKBKG inhibitor of nuclear factor kappa B kinase subunit gamma
IL1B interleukin 1, beta
IL2RG interleukin 2 receptor subunit gamma
IL6 interleukin 6 (interferon, beta 2)
IL6R interleukin 6 receptor
INSR insulin receptor
IRF6 interferon regulatory factor 6
ITGB4 integrin subunit beta 4
IVD isovaleryl-CoA dehydrogenase
JAG1 jagged 1
JAK2 Janus kinase 2
JAK3 Janus kinase 3
JBTS3 AHI1, Abelson helper integration site 1
JPH3 junctophilin 3
KAL1 ANOS1, anosmin 1
KAL2 FGFR1, fibroblast growth factor receptor 1
KAT6B lysine acetyltransferase 6B
KCNA1 potassium voltage-gated channel subfamily A member 1
KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2
KCNJ1 potassium voltage-gated channel subfamily J member 1
KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11
KCNJ2 potassium voltage-gated channel subfamily J member 2
KCNK9 potassium two pore domain channel subfamily K member 9
KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KIF1B kinesin family member 1B
KIF21A kinesin family member 21A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
KRT1 keratin 1
KRT16 keratin 16
KRT2 keratin 2
KRT5 keratin 5
KRT6A keratin 6A
KRT6B keratin 6B
KRT9 keratin 9
L1CAM L1 cell adhesion molecule
LAMA2 laminin subunit alpha 2
LAMB2 laminin subunit beta 2
LAMP2 lysosomal associated membrane protein 2
LCT lactase
LDB3 LIM domain binding 3
LDLR low density lipoprotein receptor
LEMD3 LEM domain containing 3
LEP leptin
LEPR leptin receptor
LEPRE1 P3H1, prolyl 3-hydroxylase 1
LGI1 leucine rich glioma inactivated 1
LIPA lipase A, lysosomal acid type
LIPC lipase, hepatic type
LIPI lipase I
LIS1 PAFAH1B1, platelet activating factor acetylhydrolase 1b
LITAF/SIMPLE lipopolysaccharide induced TNF factor
LMF1 lipase maturation factor 1
LMNA lamin A/C
LMNB2 lamin B2
LMX1B LIM homeobox transcription factor 1 beta
LOR loricrin
LOXL1 lysyl oxidase-like 1
LPL lipoprotein lipase
LRKK2 leucine rich repeat kinase 2
LRP5 LDL receptor related protein 5
LTBP2 latent transforming growth factor beta binding protein 2
MAMLD1 mastermind like domain containing 1
MAOB monoamine oxidase B
MAPT microtubule-associated protein tau
MBTPS2 membrane bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor
MC4R melanocortin 4 receptor
MCCC1 methylcrotonoyl-CoA carboxylase 1
MCPH1 microcephalin 1
MECP2 methyl-CpG binding protein 2
MED25 mediator complex subunit 25
MEFV MEFV, pyrin innate immunity regulator
MEN1 MÚLTIPLE endocrine neoplasia I
MET MET proto-oncogene, receptor tyrosine kinase
MFN2 mitofusin 2
MITF melanogenesis associated transcription factor
MKS1 Meckel syndrome, type 1
MLC1 megalencephalic leukoencephalopathy with subcortical cysts
MLH1 mutL homolog 1
MLL2 KMT2D, lysine methyltransferase 2D
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with
MPL MPL proto-oncogene, thrombopoietin receptor
MPZ myelin protein zero
MR1 major histocompatibility complex, class I-related
MS4A1 membrane spanning 4-domains A1
MSX2 msh homeobox 2
MT-ND1 mitochondrially encoded NADH dehydrogenase 1
MT-RNR1 mitochondrially encoded 12S RNA
MT-TK mitochondrially encoded tRNA lysine
MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G)
MTATP6 mitochondrially encoded ATP synthase 6
MTHFR 5,10-methylenetetrahydrofolate reductase (NADPH)
MTM1 myotubularin 1
MTMR2 myotubularin related protein 2
MTTP microsomal triglyceride transfer protein
MUT methylmalonyl-CoA mutase
MVK mevalonate kinase
MYBPC3 myosin binding protein C, cardiac
MYH MUTYH, mutY DNA glycosylase
MYH3 myosin heavy chain 3
MYH7 myosin heavy chain 7
MYH8 myosin heavy chain 8
MYL2 myosin light chain 2
MYL3 myosin light chain 3
MYOC myocilin
NAGLU N-acetyl-alpha-glucosaminidase
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NBEA neurobeachin
NBS1 NBN, nibrin
NDP NDP, norrin cystine knot growth factor
NDRG1 N-myc downstream regulated 1
NEFL neurofilament light
NEK8 NIMA related kinase 8
NEUROD1 neuronal differentiation 1
NF1 neurofibromin 1
NF2 neurofibromin 2
NIPBL NIPBL, cohesin loading factor
NKX2-6 NK2 homeobox 6
NLRP3 NLR family pyrin domain containing 3
NOD2 nucleotide binding oligomerization domain containing 2
NOG noggin
NOP10 NOP10 ribonucleoprotein
NOS3 nitric oxide synthase 3
NOTCH3 notch 3
NPC1 NPC intracellular cholesterol transporter
NPHP1 nephrocystin 1
NPHP2 INVS, inversin
NPHP3 nephrocystin 3
NPHP4 nephrocystin 4
NPHP5 IQCB1, IQ motif containing B1
NPHP6 CEP290, centrosomal protein 290
NPHS1 NPHS1, nephrin
NPM1 nucleophosmin
NPR2 natriuretic peptide receptor 2
NPY neuropeptide Y
NR2E3 nuclear receptor subfamily 2 group E member 3
NR3C2 nuclear receptor subfamily 3 group C member 2
NSD1 nuclear receptor binding SET domain protein 1
NYX nyctalopin
OCA2 OCA2 melanosomal transmembrane protein
OCRL OCRL, inositol polyphosphate-5-phosphatase
OFD1 OFD1, centriole and centriolar satellite protein
OPA1 OPA1, mitochondrial dynamin like GTPase
OPA3 OPA3, outer mitochondrial membrane lipid metabolism
OPA7 TMEM126A, transmembrane protein 126A
OPRM1 opioid receptor, mu 1
OTC ornithine carbamoyltransferase
OTOF otoferlin
PABPN1 poly(A) binding protein nuclear 1
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PANK2 pantothenate kinase 2
PARK2 PRKN, parkin RBR E3 ubiquitin protein ligase
PAX1 paired box 1
PAX2 paired box 2
PAX3 paired box 3
PCCA propionyl-CoA carboxylase alpha subunit
PCDH19 protocadherin 19
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PDX1 pancreatic and duodenal homeobox 1
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX12 peroxisomal biogenesis factor 12
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PFKM phosphofructokinase, muscle
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF6 PHD finger protein 6
PHKA1 phosphorylase kinase regulatory subunit alpha 1
PHKA2 phosphorylase kinase regulatory subunit alpha 2
PHKB phosphorylase kinase regulatory subunit beta
PHKG2 phosphorylase kinase catalytic subunit gamma 2
PHOX2A paired like homeobox 2a
PHOX2B paired like homeobox 2b
PIGA phosphatidylinositol glycan anchor biosynthesis class A
PINK1 PTEN induced putative kinase 1
PITX2 paired like homeodomain 2
PKD1 polycystin 1, transient receptor potential channel interacting
PKHD1 PKHD1, fibrocystin/polyductin
PKP2 plakophilin 2
PLA2G6 phospholipase A2 group VI
PLCE1 phospholipase C epsilon 1
PLG plasminogen
PLIN perilipin 1
PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PMP22 peripheral myelin protein 22
PNP purine nucleoside phosphorylase
PNPO pyridoxamine 5'-phosphate oxidase
POLG DNA polymerase gamma, catalytic subunit
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein O-mannosyltransferase 1
POU1F1 POU class 1 homeobox 1
POU3F4 POU class 3 homeobox 4
PPARG peroxisome proliferator-activated receptor gamma
PPOX protoporphyrinogen oxidase
PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha
PRKCE protein kinase C epsilon
PRKCSH protein kinase C substrate 80K-H
PRNP prion protein
PROC protein C, inactivator of coagulation factors Va and VIIIa
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PROP1 PROP paired-like homeobox 1
PROS1 protein S (alpha)
PRSS1 protease, serine 1
PRX periaxin
PSEN1 presenilin 1
PSEN2 presenilin 2 (Alzheimer disease 4)
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTEN phosphatase and tensin homolog
PTHLH parathyroid hormone like hormone
PTHR1 parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTRF CAVIN1, caveolae associated protein 1
PYGL glycogen phosphorylase L
PYGM glycogen phosphorylase, muscle associated
RAB7A RAB7A, member RAS oncogene family
RAG1 recombination activating 1
RAG2 ecombination activating 2
RANBP2 RAN binding protein 2
RAPSN receptor associated protein of the synapse
RASA1 RAS p21 protein activator 1
RB1 retinoblastoma 1
RBAT SLC3A1, solute carrier family 3 member 1
RDH5 retinol dehydrogenase 5
RELN reelin
RET ret proto-oncogene
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
RMRP RNA component of mitochondrial RNA processing
RNASEH2B ribonuclease H2 subunit B
ROR2 receptor tyrosine kinase like orphan receptor 2
RP25 EYS, eyes shut homolog (Drosophila)
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1L RPGRIP1 like
RPL11 ribosomal protein L11
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ibosomal protein S10
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS24 ribosomal protein S24
RPS26 ribosomal protein S26
RPS7 ribosomal protein S7
RSK2 RPS6KA3, ribosomal protein S6 kinase A3
RUNX1 runt related transcription factor 1
RUNX2 runt related transcription factor 2
RYR1 ryanodine receptor 1
RYR2 ryanodine receptor 2
SACS sacsin molecular chaperone
SALL1 spalt like transcription factor 1
SBDS SBDS, ribosome maturation factor
SBF2 SET binding factor 2
SCA1 ATXN1, ataxin 1
SCN1A sodium voltage-gated channel alpha subunit 1
SCN4A sodium voltage-gated channel alpha subunit 4
SCN5A sodium voltage-gated channel alpha subunit 5
SCN9A sodium voltage-gated channel alpha subunit 9
SCNA synuclein alpha
SCNN1A sodium channel epithelial 1 alpha subunit
SCNN1B sodium channel epithelial 1 beta subunit
SDHA succinate dehydrogenase complex flavoprotein subunit A
SDHB succinate dehydrogenase complex iron sulfur subunit B
SDHC succinate dehydrogenase complex subunit C
SDHD succinate dehydrogenase complex subunit D
SEC23B Sec23 homolog B, coat complex II component
SEPN1 SELENON, selenoprotein N
SEPT9 septin 9
SERPINA1 serpin family A member 1
SERPINC1 serpin family C member 1
SETX senataxin
SFTPB surfactant protein B
SGCA sarcoglycan alpha
SGCB sarcoglycan beta
SGCD sarcoglycan delta
SGCE sarcoglycan epsilon
SGCG sarcoglycan gamma
SH2D1A SH2 domain containing 1A
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHANK3 SH3 and MÚLTIPLE ankyrin repeat domains 3
SHH sonic hedgehog
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
SLC12A1 solute carrier family 12 member 1
SLC12A3 solute carrier family 12 member 3
SLC12A6 solute carrier family 12 member 6
SLC17A3 solute carrier family 17 member 3
SLC19A2 solute carrier family 19 member 2
SLC1A3 solute carrier family 1 member 3
SLC22A1 solute carrier family 22 member 1
SLC22A5 solute carrier family 22 member 5
SLC25A13 solute carrier family 25 member 13
SLC25A20 solute carrier family 25 member 20
SLC26A2 solute carrier family 26 member 2
SLC26A3 solute carrier family 26 member 3
SLC26A4 solute carrier family 26 member 4
SLC2A1 solute carrier family 2 member 1
SLC2A2 solute carrier family 2 member 2
SLC2A9 solute carrier family 2 member 9
SLC30A8 solute carrier family 30 member 8
SLC36A2 solute carrier family 36 member 2
SLC37A4 solute carrier family 37 member 4
SLC39A13 solute carrier family 39 member 13
SLC39A4 solute carrier family 39 member 4
SLC40A1 solute carrier family 40 member 1
SLC45A2 solute carrier family 45 member 2
SLC4A1 solute carrier family 4 member 1 (Diego blood group)
SLC4A4 solute carrier family 4 member 4
SLC5A1 solute carrier family 5 member 1
SLC6A2 solute carrier family 6 member 2
SLC6A3 solute carrier family 6 member 3
SLC6A4 solute carrier family 6 member 4
SLC9A6 solute carrier family 9 member A6
SLCO1B1 solute carrier organic anion transporter family member 1B1
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMN1 survival of motor neuron 1, telomeric
SOD1 superoxide dismutase 1
SOD2 superoxide dismutase 2
SOD3 superoxide dismutase 3
SOST sclerostin
SOX10 SRY-box 10
SOX2 SRY-box 2
SOX9 SRY-box 9
SPG4 SPAST, spastin
SPG7 SPG7, paraplegin matrix AAA peptidase subunit
SPINK1 serine peptidase inhibitor, Kazal type 1
SPINK5 serine peptidase inhibitor, Kazal type 5
SRD5A2 steroid 5 alpha-reductase 2
SRPX2 sushi repeat containing protein, X-linked 2
SRY sex determining region Y
STAT3 signal transducer and activator of transcription 3
STK11 serine/threonine kinase 11
STS steroid sulfatase
SURF1 SURF1, cytochrome c oxidase assembly factor
SYNE1 spectrin repeat containing nuclear envelope protein 1
TAP1 transporter 1, ATP binding cassette subfamily B member
TAS1R2 taste 1 receptor member 2
TBCE tubulin folding cofactor E
TBX5 T-box 5
TCAP titin-cap
TCF4 transcription factor 4
TCF7L2 ranscription factor 7 like 2
TCIRG1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3
TCOF1 treacle ribosome biogenesis factor 1
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha
TFR2 transferrin receptor 2
TGFBI transforming growth factor beta induced
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor beta receptor 2
TGM1 transglutaminase 1
THAP1 THAP domain containing 1
THPO thrombopoietin
THRB thyroid hormone receptor beta
TIMP3 TIMP metallopeptidase inhibitor 3
TINF2 TERF1 interacting nuclear factor 2
TITF1 NKX2-1, NK2 homeobox 1
TNF tumor necrosis factor
TNFRSF13B TNF receptor superfamily member 13B
TNFRSF1A TNF receptor superfamily member 1A
TNNC1 troponin C1, slow skeletal and cardiac type
TNNI2 troponin I2, fast skeletal type
TNNI3 troponin I3, cardiac type
TNNT2 troponin T2, cardiac type
TNXB tenascin XB
TOR1A torsin family 1 member A
TP53 tumor protein p53
TP63 tumor protein p63
TPM1 tropomyosin 1 (alpha)
TPM2 tropomyosin 2 (beta)
TPM3 ropomyosin 3
TPMT thiopurine S-methyltransferase
TPO thyroid peroxidase
TRIM32 tripartite motif containing 32
TRPM1 transient receptor potential cation channel subfamily M member 1
TRPM6 transient receptor potential cation channel subfamily M member 6
TRPS1 transcriptional repressor GATA binding 1
TRPV4 transient receptor potential cation channel subfamily V member 4
TSC1 tuberous sclerosis 1
TSC2 uberous sclerosis 2
TTID MYOT, myotilin
TTPA alpha tocopherol transfer protein
TTR transthyretin
TUBB2B tubulin beta 2B class Iib
TUBB3 tubulin beta 3 class III
TWIST1 twist family bHLH transcription factor 1
TYR tyrosinase
TYRP1 tyrosinase related protein 1
UBA1 ubiquitin like modifier activating enzyme 1
UBE3A ubiquitin protein ligase E3A
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UCP2 uncoupling protein 2
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UMOD uromodulin
UMPS uridine monophosphate synthetase
UNG uracil DNA glycosylase
USH1B MYO7A, myosin VIIA
USH2A usherin
VCAN versican
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VHL von Hippel-Lindau tumor suppressor
VKORC1 vitamin K epoxide reductase complex subunit 1
VPS13A vacuolar protein sorting 13 homolog A
VSX1 visual system homeobox 1
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WFS1 wolframin ER transmembrane glycoprotein
WNK4 WNK lysine deficient protein kinase 4
WNT5A Wnt family member 5A
WNT7A Wnt family member 7A
WT1 Wilms tumor 1
XK X-linked Kx blood group
XLRS1 RS1, retinoschisin 1
XPA XPA, DNA damage recognition and repair factor
ZFHX1B ZEB2, zinc finger E-box binding homeobox 2
811 Genes

https://www.orpha.net/consor/cgi-bin/Disease.php?lng=ES
Busca > https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES
Genes > https://www.orpha.net/consor/cgi-bin/Disease_Genes.php?lng=ES
ORPHA: > https://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=ES

PRINCIPALES GENES EN AUTISMO (por orden de relevancia) (cell [=.pdf]
6p21.32 SYNGAP1 ORPHA:544254
2q24.3 SCN2A
14q11.2 CHD8
20q13.13 ADNP Trastorno de discapacidad intelectual sindrómica-espectro autista asociado 
3p13 FOXP1
1q21.3 POGZ Autisno. La mutación heterocigótica de POGZ causa el síndrome de White-Sutton
6q25.3 ARID1B ORPHA:1465 ORPHA:251056 
KMT5B
DYRK1A
010 SLC6A1
GRIN2B
PTEN
SHANK3
MED13L
GIGYF1
CHD2
ANKRD11
ANK2
ASH1L
020 TLK2
CTNNB1
DEAF1
KDM6B
DSCAM
SETD5
KCNQ3
SRPRA
KDM5B
WAC
030 SHANK2
NRXN1
TBL1XR1
DNMT3A
MYT1L
BCL11A
RORB
RAI1
DYNC1H1
DPYSL2
040 AP2S1
KMT2C
PAX5
043 MKX

GABRB3
SIN3A
MBD5
MAP1A

47 Genes

PRINCIPALES GENES EN SINDROME BIPOLAR (nature [=.pdf]