RCPA Catalogue of Genetic Tests and Laboratories

Here is a list of all the available genetic tests. You can either use the dropdown box to find the one you are looking for or you can use the alphabetically ordered list. They will both take you to where you want to go.

Available Tests

 
Alphabetical Index
A
ABCA3 (also called ABC3 )
ABCB1 (also called GY1, MDR1, CLCS )
ABCC8 (also called CFTR/MRP )
ABCC9 (also called ATP-binding cassette, sub-family C (CFTR/MRP), member 9 )
ABCD1 (also called ALD )
ABCG5 (also called ATP-binding cassette, sub-family G (WHITE), member 5 )
ABCG8 (also called ATP-binding cassette, sub-family G (WHITE), member 8 )
ACADM
ACADS
ACTA1
ACTA2
ACTC1 (also called ACTC, actin, alpha, cardiac muscle )
ACTN2
ADA
ADSL
AFF2
AKAP9 (also called A kinase (PRKA) anchor protein 9 )
AKT1 (also called AKT, PKB, PRKBA, RAC )
ALDOB (also called ALDOB )
ALK (also called CD246 )
ALMS1 (also called Alstrom syndrome 1, Alstrom syndrome protein 1 )
AMELY
AMH (also called MIS )
AMHR2 (also called MISR2, MISRII, Muellerian inhibiting substance type II receptor )
ANCR
ANK2 (also called long (electrocardiographic) QT syndrome 4, LQT4 )
ANKRD1 (also called ankyrin repeat domain 1 (cardiac muscle) )
APC
APOB
APOC2
APOE (also called AD2 )
APP (also called AD1 )
AQP2 (also called aquaporin 2 (collecting duct) )
AR (also called DHTR, SBMA, AIS, NR3C4, SMAX1, HUMARA )
ARSA
ARSB
ARX
ASPA (also called Canavan disease )
ASS1 (also called argininosuccinate synthetase, ASS )
ATL1 (also called SPG3, SPG3A, FSP1, AD-FSP )
ATM
ATN1 (also called D12S755E, DRPLA, B37 )
ATP13A2 (also called PARK9, HSA9947 )
ATP1A2 (also called FHM2 )
ATP7B
ATXN1 (also called SCA1, D6S504E, ATX1 )
ATXN2 (also called SCA2, TNRC13, ATX2 )
ATXN3 (also called SCA3, MJD, ATX3, JOS )
ATXN7 (also called SCA7, OPCA3, ADCAII )
AVP (also called neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal )
AVPR2 (also called DIR, DIR3 )
B
BAG3
BCL2
BCL6 (also called zinc finger protein 51 )
BCR/ABL1
BIRC3/MALT1
BLM
BMPR1A
BRAF
BRCA1
BRCA2 (also called FANCD1, FACD, FANCD, FAD, FAD1, BRCC2 )
C
CACNA1A (also called CACNL1A4, SCA6, MHP1, MHP, Cav2.1, EA2, APCA, HPCA, FHM )
CACNA1C (also called CACNL1A1, calcium channel, voltage-dependent, L type, alpha 1C subunit, CCHL1A1 )
CACNA1S
CACNA2D1 (also called CACNA2, CACNL2A, )
CACNB2 (also called CACNLB2, calcium channel, voltage-dependent, beta 2 subunit, MYSB )
CALM1 (also called CALML2 )
CALR3 (also called calsperin, cancer/testis antigen 93, CRT2, CT93, FLJ25355, MGC26577 )
CAPN3 (also called LGMD2, LGMD2A, CANP3, p94, nCL-1 )
CASQ2 (also called calsequestrin 2 (cardiac muscle) )
CASR (also called HHC, HHC1, FHH, NSHPT, GPRC2A )
CAV3
CBFB
CBFB/MYH11
CBL (also called CBL2 )
CBS (also called HIP4 )
CBX2 (also called CDCA6, cell division cycle associated 6, chromobox homolog 2, chromobox homolog 2 (Drosophila Pc class) )
CCM2
CCND1
CCR5 (also called CMKBR5, CKR-5, CC-CKR-5, CKR5, CD195 )
CD109 (also called FLJ38569, DKFZp762L1111, CPAMD7 )
CD177
CD36 (also called thrombospondin receptor )
CDH1 (also called UVO )
CDKL5 (also called serine/threonine kinase 9, STK9 )
CDKN1C (also called BWCR, BWS, P57, KIP2 )
CDKN2A (also called CDKN2, MLM, CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a )
CEBPA (also called CEBP )
CFTR (also called ATP-binding cassette sub-family C, member 7 )
CHIC2
Chromosome_1
Chromosome_10
Chromosome_11
Chromosome_12
Chromosome_13
Chromosome_14
Chromosome_15
Chromosome_16
Chromosome_17
Chromosome_18
Chromosome_19
Chromosome_2
Chromosome_20
Chromosome_21
Chromosome_22
Chromosome_3
Chromosome_4
Chromosome_5
Chromosome_6
Chromosome_7
Chromosome_8
Chromosome_9
Chromosome_X
Chromosome_Y
CLCN1 (also called Thomsen disease, autosomal dominant )
CLN3 (also called Batten, Spielmeyer-Vogt disease )
CNBP
COL1A1
COL1A2 (also called OI4, osteogenesis imperfecta type IV )
COL3A1 (also called EDS4A, Ehlers-Danlos syndrome type IV, autosomal dominant )
COX15 (also called COX15 (yeast) homolog, cytochrome c oxidase assembly protein, COX15 homolog, cytochrome c oxidase assembly protein (yeast) )
CPOX (also called CPOX (also called CPO, CPX, HCP) )
CRYAB
CSF1R (also called FMS, McDonough feline sarcoma virl (V-fms) oncogene homolog, C-FMS, CD115, CSFR )
CSF3R (also called CD114 )
CSRP3 (also called cardiac LIM protein, CLP, CMD1M, MLP )
CTNNB1 (also called catenin (cadherin-associated protein), beta 1 (88kD), CTNNB, armadillo, beta-catenin )
CTNS
CXCR4 (also called chemokine (C-X-C motif) receptor 4, chemokine (C-X-C motif), receptor 4 (fusin) )
CYBB (also called CGD, )
CYP11A1 (also called CYP11A, cytochrome P450, family 11, subfamily A, polypeptide 1, cytochrome P450, subfamily XIA (cholesterol side chain cleavage) )
CYP11B1 (also called CYP11B, cytochrome P450, family 11, subfamily B, polypeptide 1, cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1 )
CYP17A1 (also called CYP17, cytochrome P450, family 17, subfamily A, polypeptide 1, cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia )
CYP19A1 (also called CYP19, cytochrome P450, family 19, subfamily A, polypeptide 1, cytochrome P450, subfamily XIX (aromatization of androgens) )
CYP1B1 (also called GLC3A )
CYP21A2
CYP24A1 (also called CYP24 )
CYP2C19 (also called CYP2C, P450IIC19, CPCJ )
CYP2C9 (also called CYP2C10, P450IIC9 )
CYP2D6 (also called CYP2DL1, CPD6, P450-DB1, CYP2D, P450C2D )
D
DCLRE1C
DCX (also called doublecortin )
DDIT3
DDR2 (also called discoidin domain receptor family, member 2, NTRKR3, TYRO10, TKT )
DES
DGCR
DGCR10
DHCR7
DHH (also called desert hedgehog (Drosophila) homolog )
DLEU1
DMD (also called muscular dystrophy, Duchenne and Becker types )
DMPK
DMRT1 (also called CT154, DM domain expressed in testis 1, DMT1 )
DNAJC19 (also called DnaJ (Hsp40) homolog, subfamily C, member 19 )
DOLK (also called TMEM15, transmembrane protein 15 )
DSC2 (also called DSC3 )
DSG2 (also called CDHF5 )
DTNA (also called dystrobrevin, alpha )
E
EBP (also called sterol isomerase )
EGFR (also called EGFR (epidermal growth factor receptor (avian erythroblastic leukemia viral (verb-b) oncogene homolog), ERBB) )
EIF2AK3 (also called PEK, PERK )
ELANE (also called ELA2, elastase 2, neutrophil )
ELN (also called supravalvular aortic stenosis, Williams-Beuren syndrome )
EMD (also called EMD ( Emery-Dreifuss muscular dystrophy) )
EPCAM
ERBB2 (also called NGL, v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2, v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog) )
ERBB4 (also called v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4, v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 )
ETV6 (also called TEL oncogene )
ETV6/RUNX1 (also called TEL/AML )
EVI1
EWSR1
EWSR1/ERG (also called EWS/ERG )
EWSR1/FLI1 (also called EWS/FLI1 )
EWSR1/WT1 (also called EWS/WT1, WT1/EWS )
EXT1 (also called LGCR, LGS, ttv )
EYA4 (also called CMD1J, DFNA10, eyes absent (Drosophila) homolog 4, eyes absent homolog 4 (Drosophila) )
EZH2 (also called enhancer of zeste (Drosophila) homolog 2, enhancer of zeste homolog 2 (Drosophila) )
F
F13A1
F13B
F2
F5
F8 (also called F8C, FVIII, DXS1253E, HEMA )
F9
FAH (also called fumarylacetoacetase )
FANCC
FAS (also called APT1, FAS1, TNFRSF6, )
FBN1
FBN2 (also called CCA, congenital contractural arachnodactyly )
FCGR2A (also called FCG2, FCGR2A1, FCGR2 )
FCGR3A (also called FCGR3, FCG3 )
FECH (also called FECH )
FGA
FGFR1 (also called FLT2, fms-related tyrosine kinase 2, KAL2, BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome )
FGFR2
FGFR3 (also called achondroplasia, thanatophoric dwarfism )
FHL1 (also called bA535K18.1, FHL1B, FLH1A, Four-and-a-half LIM domains 1, KYO-T, LIM protein SLIMMER, MGC111107, SLIM1, XMPMA )
FIP1L1/PDGFRA
FKBP10 (also called FK506 binding protein 10 (65 kDa), FK506 binding protein 10, 65 kDa )
FKRP
FKTN (also called FCMD )
FLT3
FMR1
FOXG1 (also called FKH2, FKHL1, FKHL2, FKHL3, FKHL4, forkhead box G1A, forkhead box G1B, forkhead box G1C, FOXG1A, FOXG1B, FOXG1C )
FSHMD1A (also called FMD, FSHD, D4Z4 )
FTL (also called FTL )
FXN (also called FRDA, FA, FARR, X25, CyaY )
G
G6PC
GAA (also called glycogen storage disease type II, Pompe disease )
GALC
GALNS (also called GALNAC6S, GAS, )
GALT
GATAD1 (also called FLJ22489, ocular development associated gene, ODAG, RG083M05.2 )
GBA (also called includes glucosylceramidase )
GCH1 (also called GCH, DYT5, GTPCH1 )
GCK (also called hexokinase 4 )
GDAP1
GFAP
GJA5 (also called gap junction protein, alpha 5, 40kD (connexin 40), gap junction protein, alpha 5, 40kDa, gap junction protein, alpha 5, 40kDa (connexin 40) )
GJB1 (also called CMTX1, CMTX, CX32 )
GJB2
GJB6
GLA
GLDC
GLUD1
GNA11 (also called guanine nucleotide binding protein (G protein), alpha 11 (Gq class), HHC2, hypocalciuric hypercalcemia 2 )
GNAQ (also called G-ALPHA-q, GAQ )
GNAS (also called GNAS1 )
GP1BA (also called GP1B )
GP1BB (also called CD42c )
GP2
GP5 (also called CD42d )
GP6 (also called GPVI )
GP9 (also called CD42a, GPIX )
GPA33 (also called A33 )
GPD1L
GPIHBP1 (also called GPI anchored high density lipoprotein binding protein 1 )
GRN
GUSB
H
H19
HADH (also called HADHSC, hydroxyacyl-Coenzyme A dehydrogenase, L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain )
HADHA (also called trifunctional protein )
HBA1
HBA2
HBB
HBD (also called HBD )
HBG1 (also called HBG1 )
HBG2 (also called HBG2 )
HCN4 (also called hyperpolarization activated cyclic nucleotide-gated potassium channel 4 )
HEXA (also called hexosaminidase A (alpha polypeptide), beta-hexosaminidase subunit alpha, GM2 gangliosidosis, Tay Sachs disease )
HEXB
HFE
HIRA (also called DGCR1, )
HLA-A
HLA-B
HLA-B*27
HLA-B*5701
HLA-C (also called HLA-JY3, D6S204 )
HLA-DPA1
HLA-DPB1 (also called HLA-DP1B )
HLA-DQA1 (also called HLA-DQA, CELIAC1 )
HLA-DQB1 (also called HLA-DQB, IDDM1, CELIAC1 )
HLA-DRB1 (also called HLA-DR1B )
HLA-DRB3 (also called HLA-DR3B )
HLA-DRB4 (also called HLA-DR4B )
HLA-DRB5
HLCS
HMBS
HNF1A
HNF1B (also called TCF2 )
HNF4A
HPRT1 (also called Lesch-Nyhan syndrome )
HRAS (also called HRAS1, v-Ha-ras Harvey rat sarcoma viral oncogene homolog )
HSD11B1 (also called HSD11, HSD11B )
HSD17B3 (also called SDR12C2, short chain dehydrogenase/reductase family 12C, member 2 )
HSD17B4
HSD3B2 (also called SDR11E2, short chain dehydrogenase/reductase family 11E, member 2 )
HTT (also called HD, IT15 )
I
IDH1
IDH2
IDS (also called Hunter syndrome )
IDUA
IFNGR1 (also called IFNGR )
IFNGR2 (also called IFNGT1 )
IGH@ (also called IGHDY1, IGH )
IGH@/BCL2 (also called IGH/BCL2 )
IGH@/MAF
IGH@/MYC
IGHG1
IGHV@
IGKC (also called HCAK1 )
IKBKAP
IKBKG
IL12B (also called NKSF2, CLMF, CLMF2 )
IL2RG (also called severe combined immunodeficiency )
IL7R
ILK (also called integrin-linked kinase )
INS
IPW
IRAK4
ITGA2 (also called CD49B, CD49b )
ITGA2B (also called platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41 )
ITGB3 (also called platelet glycoprotein IIIa, antigen CD61 )
J
JAG1 (also called Alagille syndrome )
JAK2
JAK3 (also called JAK-3, JAK3_HUMAN, JAKL, L-JAK, leukocyte Janus kinase, LJAK, tyrosine-protein kinase JAK3 )
JPH2 (also called JP-2 )
JUP (also called catenin (cadherin-associated protein), gamma 80kDa, CTNNG )
K
KAL1
KAT6B (also called K(lysine) acetyltransferase 6B, MYST histone acetyltransferase (monocytic leukemia) 4, MYST4 )
KCNA5 (also called potassium voltage-gated channel, shaker-related subfamily, member 5 )
KCND3 (also called potassium voltage-gated channel, Shal-related subfamily, member 3, SCA19, SCA22, spinocerebellar ataxia 19, spinocerebellar ataxia 22 )
KCNE1
KCNE2
KCNE3 (also called potassium channel, voltage gated subfamily E regulatory beta subunit 3, potassium voltage-gated channel, Isk-related family, member 3 )
KCNH2
KCNJ11
KCNJ2
KCNJ5 (also called potassium inwardly-rectifying channel, subfamily J, member 5 )
KCNJ8 (also called potassium inwardly-rectifying channel, subfamily J, member 8 )
KCNQ1
KCNQ1OT1
KDR (also called kinase insert domain receptor (a type III receptor tyrosine kinase),CD309, fetal liver kinase 1, FLK1, vascular endothelial growth factor receptor 2, VEGFR, VEGFR2 )
KEL
KIT (also called PBT )
KRAS (also called KRAS2, KRAS1 )
KRIT1
L
LAMA2 (also called laminin, alpha 2, LAMM )
LAMA4 (also called laminin, alpha 4 )
LAMP2 (also called lysosomal-associated membrane protein 2 )
LDB3
LDLR
LDLRAP1 (also called ARH, ARH2, DKFZp586D0624, FHCB1, FHCB2, MGC34705 )
LHCGR (also called HHG, hypergonadotropic hypogonadism )
LIG4 (also called ligase IV, DNA, ATP-dependent )
LMF1 (also called C16orf26, chromosome 16 open reading frame 26, TMEM112, transmembrane protein 112 )
LMNA (also called LMN1, CMD1A, LGMD1B, PRO1, LMNL1 )
LPL (also called gene with protein product )
LRRK2 (also called PARK8, ROCO2, DKFZp434H2111, FLJ45829, RIPK7 )
LTBP2 (also called C14orf141, chromosome 14 open reading frame 141, LTBP3 )
M
MALT1
MAMLD1 (also called chromosome X open reading frame 6, CXorf6 )
MAP2K1 (also called MAPKK1, MEK1,PRKMK1 )
MAP2K2 (also called PRKMK2 )
MAPT (also called DDPAC, MAPTL, MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2 )
MAX
MC2R (also called adrenocorticotropic hormone )
MC4R
MCOLN1
MECP2 (also called Rett syndrome )
MEFV (also called MEF, FMF, TRIM20 )
MEN1
MET (also called hepatocyte growth factor receptor )
MFN2
MIB1 (also called mindbomb homolog 1 (Drosophila) )
Mitochondrial_DNA
MLH1 (also called COCA2, HNPCC, FCC2, HNPCC2 )
MLL
MLL/AFF1 (also called MLL/AF4 )
MPL
MPZ (also called CMT1, CMT1B, HMSNIB )
MRAP (also called B27, FALP )
MSH2 (also called COCA1, HNPCC, HNPCC1 )
MSH6 (also called GTBP )
MSI
MT-ATP6 (also called MTATP6, ATP6 )
MT-CO1 (also called MTCO1, COX1 )
MT-CO2 (also called MTCO2, COX2 )
MT-CO3 (also called MTCO3, COX3 )
MT-ND1 (also called MTND1, ND1, NAD1 )
MT-ND4 (also called MTND4, ND4, NAD4 )
MT-ND5 (also called MTND5, ND5, NAD5 )
MT-ND6 (also called MTND6, NAD6, ND6 )
MT-RNR1 (also called MTRNR1 )
MT-TK (also called MERRF, MTTK, trnK )
MT-TL1 (also called MTTL1, TRNL1 )
MTHFR
MTM1
MUTYH (also called MYH )
MVK (also called mevalonate kinase (mevalonic aciduria) )
MYB (also called c-myb )
MYBPC3 (also called CMH4, myosin-binding protein C, cardiac )
MYC (also called bHLHe39, c-Myc )
MYCN (also called NMYC )
MYD88
MYH11 (also called myosin, heavy polypeptide 11, smooth muscle )
MYH6 (also called myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1) )
MYH7 (also called CMH1, MPD1, myopathy, distal 1, myosin, heavy polypeptide 7, cardiac muscle, beta )
MYL2 (also called myosin, light chain 2, regulatory, cardiac, slow, myosin, light polypeptide 2, regulatory, cardiac, slow )
MYL3 (also called myosin, light chain 3, alkali; ventricular, skeletal, slow, myosin, light polypeptide 3, alkali; ventricular, skeletal, slow )
MYLK (also called myosin, light polypeptide kinase )
MYLK2 (also called myosin light chain kinase 2, skeletal muscle )
MYOC
MYOT
MYOZ2 (also called C4orf5, chromosome 4 open reading frame 5 )
MYPN (also called MYOP, sarcomeric protein myopalladin, 145 kDa )
N
NAGLU (also called Sanfilippo disease IIIB )
NDP (also called EVR2 )
NDRG1 (also called CAP43 )
NEUROD1 (also called NEUROD, neurogenic differentiation 1 )
NEXN (also called nexilin (F actin binding protein) )
NF1 (also called neurofibromatosis, von Recklinghausen disease, Watson disease )
NF2 (also called merlin )
NFKBIA (also called NFKBI )
NIPA1 (also called SPG6, MGC35570 )
NKX2-1 (also called BCH, "benign chorea", NKX2A, "thyroid transcription factor 1", TITF1 )
NKX2-5 (also called cardiac-specific homeo box, CSX, NK2 transcription factor related, locus 5 (Drosophila), NKX2E )
NLRP3 (also called C1orf7, CIAS1, "cold autoinflammatory syndrome 1" )
NOTCH1 (also called "Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)", TAN1 )
NOTCH3 (also called CASIL )
NPC1
NPHS1
NPHS2 (also called podocin )
NPM1
NPPA (also called ANP, natriuretic peptide precursor A, PND )
NR3C1 (also called GRL, nuclear receptor subfamily 3, group C, member 1, nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) )
NR4A2 (also called NURR1, TINUR, NOT, RNR1, HZF-3 )
NR5A1 (also called FTZF1, nuclear receptor subfamily 5, group A, member 1 )
NRAS (also called N-ras )
O
OTC
P
PABPN1 (also called OPMD, PABP2, PAB2 )
PAFAH1B1
PANK2 (also called C20orf48, NBIA1, HSS, FLJ11729, PKAN )
PARK2
PARK7
PAX3/FOXO1A (also called PAX3/FKHR )
PAX4 (also called paired box gene 4 )
PAX6
PAX7/FOXO1A (also called FKHR/PAX7 )
PCSK9 (also called HCHOLA3, NARC-1, FH3 )
PDCD10
PDGFRA
PDGFRB
PDLIM3 (also called ALP )
PDX1 (also called insulin promoter factor 1, homeodomain transcription factor, IPF1 )
PEX1
PEX7
PIK3CA (also called "phosphoinositide-3-kinase, catalytic, alpha polypeptide",PI3K )
PIK3CD (also called phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta, phosphoinositide-3-kinase, catalytic, delta polypeptide )
PINK1 (also called PARK6 )
PKP2
PLN (also called PLB )
PML/RARA
PMM2
PMP22
PMS2 (also called H_DJ0042M02.9, HNPCC4 )
POLG
POR (also called P450 (cytochrome) oxidoreductase )
POU1F1
PPOX (also called PPO )
PPP2R2B (also called "PP2A subunit B isoform beta", PR52B, PR55-BETA )
PPT1 (also called ceroid-lipofuscinosis, neuronal 1, infantile )
PRDM16 (also called PR domain containing 16 )
PRF1
PRKAG2 (also called protein kinase, AMP-activated, gamma 2 non-catalytic subunit )
PRKAR1A (also called PRKAR1, protein kinase, cAMP-dependent, regulatory subunit type I alpha, protein kinase, cAMP-dependent, regulatory, type I, alpha, tissue specific extinguisher 1, TSE1 )
PRNP (also called PRIP, GSS, CJD, CD230, PRP )
PROP1
PRSS1
PSAP (also called variant Gaucher disease and variant metachromatic leukodystrophy )
PSEN1 (also called AD3, FAD, S182, PS1 )
PSEN2 (also called AD4, AD3L, STM2, PS2 )
PTEN (also called mutated in multiple advanced cancers 1 )
PTPN11 (also called "Noonan syndrome 1" )
PWCR
PYGM (also called McArdle syndrome, glycogen storage disease type V )
R
RAF1
RAG1
RAG2
RB1 (also called including osteosarcoma )
RBM20
RCAN1
RET
RHCE
RHD
RIT1 (also called Ric (Drosophila)-like, expressed in many tissues, RIT )
RSPO1 (also called R-spondin homolog (Xenopus laevis) )
RUNX1 (also called acute myeloid leukemia 1; aml1 oncogene )
RUNX1/RUNX1T1 (also called RUNX1/ETO, AML1/ETO )
RYR1 (also called RYR )
RYR2 (also called arrhythmogenic right ventricular dysplasia 2, ARVD2, ryanodine receptor 2 (cardiac) )
S
SCN1B
SCN2B (also called sodium channel, voltage gated, type II beta subunit, sodium channel, voltage-gated, type II, beta, sodium channel, voltage-gated, type II, beta polypeptide, sodium channel, voltage-gated, type II, beta subunit )
SCN3B
SCN4A
SCN4B (also called sodium channel, voltage gated, type IV beta subunit, sodium channel, voltage-gated, type IV, beta, sodium channel, voltage-gated, type IV, beta subunit )
SCN5A (also called sodium channel, voltage-gated, type V, alpha (long QT syndrome 3) )
SCO2 (also called myopia 6, MYP6, SCO (cytochrome oxidase deficient, yeast) homolog 2, SCO cytochrome oxidase deficient homolog 2 (yeast) )
SDHA (also called SDH2 )
SDHB
SDHC (also called PGL3 )
SDHD
SFTPB
SFTPC (also called SFTP2, "surfactant, pulmonary-associated protein C" )
SGCB (also called LGMD2E, sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) )
SGCD (also called sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) )
SGCE (also called DYT11 )
SGCG (also called DMDA1, LGMD2C, MAM, sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) )
SGSH (also called sulfamidase )
SH2D1A (also called IMD5, "lymphoproliferative syndrome", LYP, "SH2 domain protein 1A" )
SHOC2 (also called soc-2 (suppressor of clear, C.elegans) homolog, soc-2 suppressor of clear homolog (C. elegans) )
SHOX
SLC14A1 (also called urea transporter )
SLC16A1 (also called solute carrier family 16 (monocarboxylate transporter), member 1, solute carrier family 16 (monocarboxylic acid transporters), member 1, solute carrier family 16, member 1 (monocarboxylic acid transporter 1) )
SLC25A4 (also called ANT1, PEO2, PEO3, solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 )
SLC2A10 (also called solute carrier family 2 (facilitated glucose transporter), member 10 )
SLC39A4 (also called ZIP4 )
SLC7A9 (also called CSNU3 )
SMAD3 (also called "MAD, mothers against decapentaplegic homolog 3 (Drosophila)", MADH3, "SMAD, mothers against DPP homolog 3 (Drosophila)" )
SMAD4
SMARCB1 (also called SNF5L1, BAF47, Ini1, Snr1, hSNFS, Sfh1p )
SMCR
SMN1
SMPD1
SNCA (also called PARK1, NACP, PD1 )
SNCAIP
SNRPN
SNTA1 (also called SNT1, syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component) )
SOD1 (also called ALS, ALS1, IPOA )
SOS1
SOX9 (also called campomelic dysplasia, autosomal sex-reversal, CMD1, CMPD1, SRY (sex determining region Y)-box 9, SRY box 9 )
SPAST (also called SPG4, FSP2, ADPSP, KIAA1083 )
SPG7 (also called CAR, "paraplegin", SPG5C )
SPINK1 (also called SPINK1 )
SPRED1 (also called FLJ33903, PPP1R147, protein phosphatase 1, regulatory subunit 147 )
SPTLC1 (also called HSN1, LCB1, SPTI, HSAN1 )
SRC (also called SRC1,ASV, c-src )
SRD5A2 (also called steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) )
SRY
SS18
STAR (also called steroidogenic acute regulator )
STAT1
STAT3 (also called APRF )
STK11
STR_19q
STR_1p
STX11
STXBP1 (also called hUNC18, MUNC18-1, rbSec1, "syntaxin-binding protein 1", UNC18 )
SUMF1
SYNE1 (also called C6orf98 )
T
TAZ (also called cardiomyopathy, dilated 3A (X-linked), CMD3A, EFE, EFE2, endocardial fibroelastosis 2 )
TBP
TBX20
TCAP (also called LGMD2G, limb girdle muscular dystrophy 2G (autosomal recessive), titin-cap (telethonin) )
TCF3 (also called E2A immunoglobulin enhancer binding factors E12/E47 )
TCF3/PBX1
TGFB2
TGFB3 (also called arrhythmogenic right ventricular dysplasia 1, ARVD, ARVD1, transforming growth factor, beta 3 )
TGFBR1 (also called activin A receptor type II-like kinase, 53kDa )
TGFBR2
TH
THAP1 (also called "dystonia 6, torsion (autosomal dominant)", DYT6 )
TMEM127
TMEM43 (also called arrhythmogenic right ventricular dysplasia 5, ARVD5 )
TMPO (also called LAP2, LEM domain containing 4, LEMD4, TP )
TNFRSF1A
TNNC1 (also called TNNC, troponin C type 1 (slow) )
TNNI3 (also called cardiomyopathy, dilated 2A (autosomal recessive), CMD2A, troponin I type 3, troponin I type 3 (cardiac) )
TNNT2 (also called cardiomyopathy, dilated 1D (autosomal dominant), cardiomyopathy, hypertrophic 2, CMD1D, CMH2, troponin T type 2 (cardiac) )
TOR1A (also called torsin A )
TP53
TPM1 (also called C15orf13, cardiomyopathy, hypertrophic 3, chromosome 15 open reading frame 13, CMH3 )
TPM3
TPMT
TPP1
TRAPPC2
TRB@ (also called TCRB, TRB )
TRDN
TRG@ (also called TCRG, TRG )
TRGC1 (also called TCRGC1,C1, T-cell receptor, gamma, constant region C1 )
TRPM4 (also called transient receptor potential cation channel, subfamily M, member 4 )
TSPY1
TSPYL1 (also called TSPY-like, TSPYL )
TTN (also called cardiomyopathy, dilated 1G (autosomal dominant), CMD1G )
TTR (also called PALB, HsT2651 )
TXNRD2 (also called selenoprotein Z, thioredoxin reductase beta, TR, TR3, TRXR2 )
U
UBE3A (also called EPVE6AP, HPVE6A, AS, ANCR, E6-AP, FLJ26981 )
UCHL1 (also called PARK5, PGP9.5, Uch-L1 )
UCP2 (also called BMIQ4, body mass index QTL 4, body mass index quantitative trait 4 )
UGT1A1 (also called UGT1, GNT1, UGT1A )
UNC13D
UROD (also called UROD )
V
VCL (also called metavinculin )
VHL
VKORC1 (also called VKCFD2 )
VWF
W
WBS2
WFS1 (also called wolframin )
WHCR
WNT4 (also called wingless-type MMTV integration site family, member 4 )
WT1 (also called GUD, WAGR, WIT-2 )
X
XIAP (also called API3, baculoviral IAP repeat-containing 4, BIRC4, X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase )