abnormality of the thorax Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). (Human Phenotype Ontology, HP_0000765)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000765
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Genes

436 genes associated with the abnormality of the thorax phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACAN aggrecan
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ACTG2 actin, gamma 2, smooth muscle, enteric
ADA adenosine deaminase
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTSL2 ADAMTS-like 2
AGA aspartylglucosaminidase
AGRN agrin
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALPL alkaline phosphatase, liver/bone/kidney
AMER1 APC membrane recruitment protein 1
ANK1 ankyrin 1, erythrocytic
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
APC adenomatous polyposis coli
AR androgen receptor
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARSB arylsulfatase B
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASXL1 additional sex combs like transcriptional regulator 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BANF1 barrier to autointegration factor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BMP1 bone morphogenetic protein 1
BMP2 bone morphogenetic protein 2
BMPER BMP binding endothelial regulator
BRAF B-Raf proto-oncogene, serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C19ORF12 chromosome 19 open reading frame 12
CALR calreticulin
CANT1 calcium activated nucleotidase 1
CAPN3 calpain 3, (p94)
CASR calcium-sensing receptor
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CCDC8 coiled-coil domain containing 8
CD96 CD96 molecule
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 1
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COMP cartilage oligomeric matrix protein
COMT catechol-O-methyltransferase
CREBBP CREB binding protein
CRTAP cartilage associated protein
CSPP1 centrosome and spindle pole associated protein 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNS cystinosin, lysosomal cystine transporter
CTSK cathepsin K
CUL7 cullin 7
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DCHS1 dachsous cadherin-related 1
DDR2 discoidin domain receptor tyrosine kinase 2
DES desmin
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DLG3 discs, large homolog 3 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DNM2 dynamin 2
DOK7 docking protein 7
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
EMD emerin
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FERMT1 fermitin family member 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FHL1 four and a half LIM domains 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FKTN fukutin
FLNA filamin A, alpha
FLNB filamin B, beta
FMR1 fragile X mental retardation 1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FUCA1 fucosidase, alpha-L- 1, tissue
FUZ fuzzy planar cell polarity protein
G6PC3 glucose 6 phosphatase, catalytic, 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALNS galactosamine (N-acetyl)-6-sulfatase
GBA glucosidase, beta, acid
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GJA1 gap junction protein, alpha 1, 43kDa
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GLI3 GLI family zinc finger 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNS glucosamine (N-acetyl)-6-sulfatase
GORAB golgin, RAB6-interacting
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPX4 glutathione peroxidase 4
GRIP1 glutamate receptor interacting protein 1
GSC goosecoid homeobox
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HACD1 3-hydroxyacyl-CoA dehydratase 1
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HHAT hedgehog acyltransferase
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HNF1B HNF1 homeobox B
HOXD13 homeobox D13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
ICK intestinal cell (MAK-like) kinase
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IGBP1 immunoglobulin (CD79A) binding protein 1
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IHH indian hedgehog
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL12B interleukin 12B
IMPAD1 inositol monophosphatase domain containing 1
INPPL1 inositol polyphosphate phosphatase-like 1
IRF6 interferon regulatory factor 6
IRX5 iroquois homeobox 5
ITGA7 integrin, alpha 7
JAG1 jagged 1
JAK2 Janus kinase 2
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KCTD1 potassium channel tetramerization domain containing 1
KDM5C lysine (K)-specific demethylase 5C
KIAA0196 KIAA0196
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KLHL41 kelch-like family member 41
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHX1 LIM homeobox 1
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MATN3 matrilin 3
MBTPS2 membrane-bound transcription factor peptidase, site 2
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEFV Mediterranean fever
MEGF10 multiple EGF-like-domains 10
MEGF8 multiple EGF-like-domains 8
MEOX1 mesenchyme homeobox 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGP matrix Gla protein
MLX MLX, MAX dimerization protein
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
MOGS mannosyl-oligosaccharide glucosidase
MPL MPL proto-oncogene, thrombopoietin receptor
MSX2 msh homeobox 2
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYL2 myosin, light chain 2, regulatory, cardiac, slow
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGLU N-acetylglucosaminidase, alpha
NALCN sodium leak channel, non selective
NEB nebulin
NEK1 NIMA-related kinase 1
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NKX3-2 NK3 homeobox 2
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOG noggin
NOTCH2 notch 2
NOTCH3 notch 3
NPR2 natriuretic peptide receptor 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OBSL1 obscurin-like 1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
P3H1 prolyl 3-hydroxylase 1
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX1 paired box 1
PAX3 paired box 3
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDHX pyruvate dehydrogenase complex, component X
PEX1 peroxisomal biogenesis factor 1
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PORCN porcupine homolog (Drosophila)
PPIB peptidylprolyl isomerase B (cyclophilin B)
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRTN3 proteinase 3
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PYCR1 pyrroline-5-carboxylate reductase 1
RAB33B RAB33B, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPSN receptor-associated protein of the synapse
RBBP8 retinoblastoma binding protein 8
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
RIPK4 receptor-interacting serine-threonine kinase 4
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SBDS Shwachman-Bodian-Diamond syndrome
SCARF2 scavenger receptor class F, member 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEPN1 selenoprotein N, 1
SEPT9 septin 9
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGSH N-sulfoglucosamine sulfohydrolase
SH2B3 SH2B adaptor protein 3
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIL1 SIL1 nucleotide exchange factor
SKI SKI proto-oncogene
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMS spermine synthase
SNX10 sorting nexin 10
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SOX9 SRY (sex determining region Y)-box 9
SP7 Sp7 transcription factor
SPRED1 sprouty-related, EVH1 domain containing 1
SRCAP Snf2-related CREBBP activator protein
SRD5A3 steroid 5 alpha-reductase 3
SUFU suppressor of fused homolog (Drosophila)
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX15 T-box 15
TBX3 T-box 3
TBX5 T-box 5
TBX6 T-box 6
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN3 tectonic family member 3
TET2 tet methylcytosine dioxygenase 2
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THPO thrombopoietin
THRB thyroid hormone receptor, beta
TMCO1 transmembrane and coiled-coil domains 1
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNNT1 troponin T type 1 (skeletal, slow)
TNPO3 transportin 3
TP53 tumor protein p53
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAPPC2 trafficking protein particle complex 2
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTC21B tetratricopeptide repeat domain 21B
UBA1 ubiquitin-like modifier activating enzyme 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VANGL1 VANGL planar cell polarity protein 1
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
WAS Wiskott-Aldrich syndrome
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WDR81 WD repeat domain 81
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WIPF1 WAS/WASL interacting protein family, member 1
WNT1 wingless-type MMTV integration site family, member 1
WNT3 wingless-type MMTV integration site family, member 3
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WRN Werner syndrome, RecQ helicase-like
XYLT1 xylosyltransferase I
ZBTB16 zinc finger and BTB domain containing 16
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2
ZMPSTE24 zinc metallopeptidase STE24