Limb Deformities, Congenital Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D017880
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Genes

349 genes/proteins associated with the disease Limb Deformities, Congenital from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
CHUK conserved helix-loop-helix ubiquitous kinase 2.88009
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 2.88009
FGFR2 fibroblast growth factor receptor 2 2.88009
GPC6 glypican 6 2.88009
IRF6 interferon regulatory factor 6 2.88009
HAPLN1 hyaluronan and proteoglycan link protein 1 2.88009
TBX3 T-box 3 2.88009
COL11A2 collagen, type XI, alpha 2 2.88009
SALL1 spalt-like transcription factor 1 2.88009
HOXD12 homeobox D12 2.88009
HOXA11 homeobox A11 2.88009
MIR17HG miR-17-92 cluster host gene 2.88009
TP63 tumor protein p63 2.88009
HOXD11 homeobox D11 2.88009
TGFB2 transforming growth factor, beta 2 2.88009
HOXD13 homeobox D13 2.88009
BAX BCL2-associated X protein 1.97969
CASP3 caspase 3, apoptosis-related cysteine peptidase 1.87393
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A 1.84305
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 1.82272
BCL2 B-cell CLL/lymphoma 2 1.81243
CAT catalase 1.73414
CCND1 cyclin D1 1.71111
MAPK1 mitogen-activated protein kinase 1 1.69082
FOS FBJ murine osteosarcoma viral oncogene homolog 1.6538
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 1.65271
FAS Fas cell surface death receptor 1.65204
BCL2L1 BCL2-like 1 1.64865
TNF tumor necrosis factor 1.63989
MAPK3 mitogen-activated protein kinase 3 1.62758
DDIT3 DNA-damage-inducible transcript 3 1.62512
CASP9 caspase 9, apoptosis-related cysteine peptidase 1.58351
IL1B interleukin 1, beta 1.57426
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 1.55378
JUN jun proto-oncogene 1.55084
HSPA8 heat shock 70kDa protein 8 1.54354
SOD2 superoxide dismutase 2, mitochondrial 1.54086
IL6 interleukin 6 1.53724
PARP1 poly (ADP-ribose) polymerase 1 1.53603
CASP8 caspase 8, apoptosis-related cysteine peptidase 1.50675
TP53 tumor protein p53 1.50423
HSPB1 heat shock 27kDa protein 1 1.49787
NOS2 nitric oxide synthase 2, inducible 1.4889
NRP1 neuropilin 1 1.48864
COL1A2 collagen, type I, alpha 2 1.47889
MYC v-myc avian myelocytomatosis viral oncogene homolog 1.46701
IGFBP3 insulin-like growth factor binding protein 3 1.45643
IL2 interleukin 2 1.45378
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 1.44409
SRC SRC proto-oncogene, non-receptor tyrosine kinase 1.44355
IGF1 insulin-like growth factor 1 (somatomedin C) 1.44029
ESR1 estrogen receptor 1 1.43212
IFNG interferon, gamma 1.41965
GDF10 growth differentiation factor 10 1.41694
CCND3 cyclin D3 1.41063
AFP alpha-fetoprotein 1.40705
GSR glutathione reductase 1.40232
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) 1.40148
MAPK8 mitogen-activated protein kinase 8 1.40008
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 1.3998
MAOA monoamine oxidase A 1.39841
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 1.39674
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 1.38752
COL1A1 collagen, type I, alpha 1 1.38641
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 1.3827
CTSB cathepsin B 1.38156
CXCL10 chemokine (C-X-C motif) ligand 10 1.38128
IGF1R insulin-like growth factor 1 receptor 1.36848
CCNA2 cyclin A2 1.36735
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 1.36619
PCNA proliferating cell nuclear antigen 1.36562
NR1I3 nuclear receptor subfamily 1, group I, member 3 1.36275
ACTG2 actin, gamma 2, smooth muscle, enteric 1.35763
MAPK14 mitogen-activated protein kinase 14 1.35041
CTSL cathepsin L 1.33966
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 1.33523
GPX1 glutathione peroxidase 1 1.33199
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 1.33052
G6PC glucose-6-phosphatase, catalytic subunit 1.32726
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.31927
FSHB follicle stimulating hormone, beta polypeptide 1.31837
RPSA ribosomal protein SA 1.30881
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 1.30881
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 1.30819
NCALD neurocalcin delta 1.30788
PTEN phosphatase and tensin homolog 1.30451
GPX2 glutathione peroxidase 2 1.3036
GJA1 gap junction protein, alpha 1, 43kDa 1.29781
CLU clusterin 1.29533
TKT transketolase 1.29379
CCL2 chemokine (C-C motif) ligand 2 1.29256
CCNG1 cyclin G1 1.29225
GH1 growth hormone 1 1.28858
TANK TRAF family member-associated NFKB activator 1.28734
CEBPB CCAAT/enhancer binding protein (C/EBP), beta 1.28734
ASS1 argininosuccinate synthase 1 1.28549
RRM2 ribonucleotide reductase M2 1.28487
ALDH1A1 aldehyde dehydrogenase 1 family, member A1 1.27997
ODC1 ornithine decarboxylase 1 1.27845
TAT tyrosine aminotransferase 1.2772
AKT2 v-akt murine thymoma viral oncogene homolog 2 1.2772
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase 1.27595
EDNRB endothelin receptor type B 1.27409
EFNB1 ephrin-B1 1.27316
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) 1.27224
HSP90B1 heat shock protein 90kDa beta (Grp94), member 1 1.26917
RB1 retinoblastoma 1 1.26763
GATA3 GATA binding protein 3 1.26669
VEGFA vascular endothelial growth factor A 1.26638
GSTM1 glutathione S-transferase mu 1 1.26052
MARCKS myristoylated alanine-rich protein kinase C substrate 1.25899
F3 coagulation factor III (thromboplastin, tissue factor) 1.25899
CCNE1 cyclin E1 1.25682
IL10 interleukin 10 1.25152
GSTP1 glutathione S-transferase pi 1 1.2509
ZNF518A zinc finger protein 518A 1.2509
BTG2 BTG family, member 2 1.2509
NR1I2 nuclear receptor subfamily 1, group I, member 2 1.24623
VLDLR very low density lipoprotein receptor 1.24401
ANXA3 annexin A3 1.24181
UNG uracil-DNA glycosylase 1.24181
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) 1.23837
IGFBP2 insulin-like growth factor binding protein 2, 36kDa 1.23712
MMP3 matrix metallopeptidase 3 1.23648
FN1 fibronectin 1 1.23169
HMOX1 heme oxygenase 1 1.22979
TNFRSF10B tumor necrosis factor receptor superfamily, member 10b 1.22884
HOXA1 homeobox A1 1.22758
ANGPT2 angiopoietin 2 1.22016
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 1.21887
MSMO1 methylsterol monooxygenase 1 1.21887
NAMPT nicotinamide phosphoribosyltransferase 1.21887
UBE2C ubiquitin-conjugating enzyme E2C 1.21887
EPB41L3 erythrocyte membrane protein band 4.1-like 3 1.21791
SOX17 SRY (sex determining region Y)-box 17 1.21631
CREB1 cAMP responsive element binding protein 1 1.21435
THRA thyroid hormone receptor, alpha 1.21435
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) 1.21011
TOB1 transducer of ERBB2, 1 1.20913
DEPDC7 DEP domain containing 7 1.20361
GRIA2 glutamate receptor, ionotropic, AMPA 2 1.20196
SHH sonic hedgehog 1.20196
EGFR epidermal growth factor receptor 1.20031
PPARG peroxisome proliferator-activated receptor gamma 1.19966
IL4 interleukin 4 1.19868
GSK3B glycogen synthase kinase 3 beta 1.19672
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.19574
RARG retinoic acid receptor, gamma 1.19542
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 1.19312
AR androgen receptor 1.19113
MAGED1 melanoma antigen family D1 1.19014
MAP2K1 mitogen-activated protein kinase kinase 1 1.18816
MKI67 marker of proliferation Ki-67 1.18685
CTGF connective tissue growth factor 1.18293
NCL nucleolin 1.18159
NR2F2 nuclear receptor subfamily 2, group F, member 2 1.18159
COL2A1 collagen, type II, alpha 1 1.17893
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 1.1786
IL18 interleukin 18 1.17629
BAD BCL2-associated agonist of cell death 1.17497
CALR calreticulin 1.17497
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 1.17333
GADD45A growth arrest and DNA-damage-inducible, alpha 1.173
PHLDA3 pleckstrin homology-like domain, family A, member 3 1.17235
GLUL glutamate-ammonia ligase 1.16933
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) 1.16933
BIK BCL2-interacting killer (apoptosis-inducing) 1.16933
S100A8 S100 calcium binding protein A8 1.16766
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 1.16733
XDH xanthine dehydrogenase 1.167
VIM vimentin 1.167
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 1.16567
EPO erythropoietin 1.16401
APAF1 apoptotic peptidase activating factor 1 1.16401
WNT5A wingless-type MMTV integration site family, member 5A 1.16302
ALCAM activated leukocyte cell adhesion molecule 1.16302
EGR3 early growth response 3 1.16302
TFRC transferrin receptor 1.16203
EOMES eomesodermin 1.16035
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B 1.16001
ADM adrenomedullin 1.16001
KRT18 keratin 18, type I 1.16001
VCL vinculin 1.16001
CCNB1 cyclin B1 1.15729
VCAM1 vascular cell adhesion molecule 1 1.15357
PER1 period circadian clock 1 1.15122
BCL2L11 BCL2-like 11 (apoptosis facilitator) 1.15089
MAP2K2 mitogen-activated protein kinase kinase 2 1.15089
DUSP1 dual specificity phosphatase 1 1.14954
CFLAR CASP8 and FADD-like apoptosis regulator 1.14747
SOD1 superoxide dismutase 1, soluble 1.14713
IRS1 insulin receptor substrate 1 1.14575
GATA4 GATA binding protein 4 1.14541
IGF2 insulin-like growth factor 2 1.14404
KRT8 keratin 8, type II 1.1437
RGS4 regulator of G-protein signaling 4 1.14268
CYCS cytochrome c, somatic 1.14098
MYB v-myb avian myeloblastosis viral oncogene homolog 1.13997
FASLG Fas ligand (TNF superfamily, member 6) 1.13758
GPX3 glutathione peroxidase 3 1.13518
PDIA4 protein disulfide isomerase family A, member 4 1.13415
LHB luteinizing hormone beta polypeptide 1.13381
CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast) 1.13347
HSPA1B heat shock 70kDa protein 1B 1.13347
KLF13 Kruppel-like factor 13 1.13313
BAK1 BCL2-antagonist/killer 1 1.13177
ME1 malic enzyme 1, NADP(+)-dependent, cytosolic 1.13177
NME1 NME/NM23 nucleoside diphosphate kinase 1 1.13143
ICAM1 intercellular adhesion molecule 1 1.13075
EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 1.13007
LGR4 leucine-rich repeat containing G protein-coupled receptor 4 1.12872
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 1.12703
RXRG retinoid X receptor, gamma 1.12668
EGR1 early growth response 1 1.12634
SNCA synuclein, alpha (non A4 component of amyloid precursor) 1.12357
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 1.12288
SLC22A7 solute carrier family 22 (organic anion transporter), member 7 1.12117
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta 1.12117
PRL prolactin 1.11911
KITLG KIT ligand 1.11877
FNDC3B fibronectin type III domain containing 3B 1.11877
CCND2 cyclin D2 1.11877
ERBB2 erb-b2 receptor tyrosine kinase 2 1.11707
TMEM69 transmembrane protein 69 1.11431
ITGA1 integrin, alpha 1 1.11396
SGCE sarcoglycan, epsilon 1.1129
HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 1.1122
GSTM3 glutathione S-transferase mu 3 (brain) 1.1122
MGMT O-6-methylguanine-DNA methyltransferase 1.1122
TFDP2 transcription factor Dp-2 (E2F dimerization partner 2) 1.10942
PER2 period circadian clock 2 1.10838
RBP1 retinol binding protein 1, cellular 1.10838
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 1.10769
MPO myeloperoxidase 1.10631
ECH1 enoyl CoA hydratase 1, peroxisomal 1.10596
PKP2 plakophilin 2 1.10527
NFYB nuclear transcription factor Y, beta 1.10493
CD38 CD38 molecule 1.10388
CX3CL1 chemokine (C-X3-C motif) ligand 1 1.10353
DAPK3 death-associated protein kinase 3 1.10069
GRINA glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) 1.10033
ALB albumin 1.09892
RECK reversion-inducing-cysteine-rich protein with kazal motifs 1.09646
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 1.09611
OLFM1 olfactomedin 1 1.09611
SQSTM1 sequestosome 1 1.09506
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 1.09401
BDNF brain-derived neurotrophic factor 1.09297
HDAC3 histone deacetylase 3 1.09226
NQO1 NAD(P)H dehydrogenase, quinone 1 1.08975
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 1.08904
SOAT1 sterol O-acyltransferase 1 1.08797
ST13 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 1.08797
AK3 adenylate kinase 3 1.08762
TGFB3 transforming growth factor, beta 3 1.08726
CDC25B cell division cycle 25B 1.0869
PGR progesterone receptor 1.08442
ZEB2 zinc finger E-box binding homeobox 2 1.08372
DSP desmoplakin 1.08337
TGFB1 transforming growth factor, beta 1 1.08301
FADS2 fatty acid desaturase 2 1.08231
POMC proopiomelanocortin 1.08231
TSHB thyroid stimulating hormone, beta 1.08019
HMGB2 high mobility group box 2 1.07768
NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 1.07589
DCT dopachrome tautomerase 1.07553
FOXO1 forkhead box O1 1.07553
ARHGDIB Rho GDP dissociation inhibitor (GDI) beta 1.07553
NR4A1 nuclear receptor subfamily 4, group A, member 1 1.07447
CBLN1 cerebellin 1 precursor 1.07411
ACHE acetylcholinesterase (Yt blood group) 1.07411
CDK5 cyclin-dependent kinase 5 1.07199
STAT5B signal transducer and activator of transcription 5B 1.07163
MT2A metallothionein 2A 1.07057
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 1.07022
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 1.06917
HSPD1 heat shock 60kDa protein 1 (chaperonin) 1.06881
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 1.06881
GLDC glycine dehydrogenase (decarboxylating) 1.06771
RAD51C RAD51 paralog C 1.06406
WFDC2 WAP four-disulfide core domain 2 1.0637
LDLR low density lipoprotein receptor 1.06333
HSPE1 heat shock 10kDa protein 1 1.06044
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 1.06044
PRKCA protein kinase C, alpha 1.05936
INSR insulin receptor 1.05828
PKNOX2 PBX/knotted 1 homeobox 2 1.05721
HAND2 heart and neural crest derivatives expressed 2 1.05685
EIF4A1 eukaryotic translation initiation factor 4A1 1.05685
IDI1 isopentenyl-diphosphate delta isomerase 1 1.05648
HDGFRP3 hepatoma-derived growth factor, related protein 3 1.05648
MBP myelin basic protein 1.0561
GFRA1 GDNF family receptor alpha 1 1.0561
INHBA inhibin, beta A 1.0561
PRLR prolactin receptor 1.05423
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 1.05423
TUBB2B tubulin, beta 2B class IIb 1.05274
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) 1.04941
ZBTB16 zinc finger and BTB domain containing 16 1.04904
BMP4 bone morphogenetic protein 4 1.04611
TUBA4A tubulin, alpha 4a 1.04538
JUNB jun B proto-oncogene 1.04314
PRPF18 pre-mRNA processing factor 18 1.04051
TOP2A topoisomerase (DNA) II alpha 170kDa 1.03901
H2AFX H2A histone family, member X 1.03901
RBBP4 retinoblastoma binding protein 4 1.03827
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1.03641
RARB retinoic acid receptor, beta 1.03567
GUCY1B3 guanylate cyclase 1, soluble, beta 3 1.03493
SRM spermidine synthase 1.03493
CREBBP CREB binding protein 1.03382
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit 1.03159
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 1.03009
FGF2 fibroblast growth factor 2 (basic) 1.02896
PAM peptidylglycine alpha-amidating monooxygenase 1.02858
FOXA2 forkhead box A2 1.02821
PDGFRB platelet-derived growth factor receptor, beta polypeptide 1.02821
CRABP2 cellular retinoic acid binding protein 2 1.02821
HBEGF heparin-binding EGF-like growth factor 1.02821
RTN4RL1 reticulon 4 receptor-like 1 1.02634
MCL1 myeloid cell leukemia 1 1.02373
HSPH1 heat shock 105kDa/110kDa protein 1 1.02225
LCK LCK proto-oncogene, Src family tyrosine kinase 1.02188
S100P S100 calcium binding protein P 1.02188
TNFSF9 tumor necrosis factor (ligand) superfamily, member 9 1.02151
GEM GTP binding protein overexpressed in skeletal muscle 1.02151
RUNX2 runt-related transcription factor 2 1.02077
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 1.0204
KIDINS220 kinase D-interacting substrate, 220kDa 1.01928
BATF3 basic leucine zipper transcription factor, ATF-like 3 1.01928
TEK TEK tyrosine kinase, endothelial 1.0189
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase 1.0189
CHDH choline dehydrogenase 1.0189
NFIA nuclear factor I/A 1.0189
NAP1L1 nucleosome assembly protein 1-like 1 1.01512
MFGE8 milk fat globule-EGF factor 8 protein 1.01512
CDC20 cell division cycle 20 1.01324
MLF1 myeloid leukemia factor 1 1.01324
MET MET proto-oncogene, receptor tyrosine kinase 1.01286
STAR steroidogenic acute regulatory protein 1.01286
SPRR1B small proline-rich protein 1B 1.01286
CABYR calcium binding tyrosine-(Y)-phosphorylation regulated 1.01249
MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 1.01249
RFC3 replication factor C (activator 1) 3, 38kDa 1.01212
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 1.01212
IFNGR1 interferon gamma receptor 1 1.01212
PBX3 pre-B-cell leukemia homeobox 3 1.01174
EPHX2 epoxide hydrolase 2, cytoplasmic 1.01137
RARA retinoic acid receptor, alpha 1.01137