Cryptorchidism Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning hidden and ὄρχις, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle. (Experimental Factor Ontology, EFO_0004562)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D003456
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Genes

237 genes/proteins associated with the disease Cryptorchidism from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 2.88009
RXFP2 relaxin/insulin-like family peptide receptor 2 2.88009
ATRX alpha thalassemia/mental retardation syndrome X-linked 2.88009
CHRM3 cholinergic receptor, muscarinic 3 2.88009
INSL3 insulin-like 3 (Leydig cell) 2.88009
ESR1 estrogen receptor 1 2.07528
PGR progesterone receptor 2.05966
AR androgen receptor 2.04411
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 1.88704
ESR2 estrogen receptor 2 (ER beta) 1.83735
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 1.83378
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 1.77492
STAR steroidogenic acute regulatory protein 1.75261
NR1I2 nuclear receptor subfamily 1, group I, member 2 1.75221
LHB luteinizing hormone beta polypeptide 1.73999
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 1.73434
HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1 1.72075
AHR aryl hydrocarbon receptor 1.69361
NR5A1 nuclear receptor subfamily 5, group A, member 1 1.68401
FSHB follicle stimulating hormone, beta polypeptide 1.67398
NR1I3 nuclear receptor subfamily 1, group I, member 3 1.61295
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 1.59755
TSHB thyroid stimulating hormone, beta 1.57474
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 1.5745
THRB thyroid hormone receptor, beta 1.53941
VIM vimentin 1.53382
CCND1 cyclin D1 1.47167
IGF1R insulin-like growth factor 1 receptor 1.46251
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha 1.45617
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) 1.45194
MSMO1 methylsterol monooxygenase 1 1.41938
THRA thyroid hormone receptor, alpha 1.41559
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 1.41368
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 1.40815
GJA1 gap junction protein, alpha 1, 43kDa 1.40373
SHBG sex hormone-binding globulin 1.39924
MAPK3 mitogen-activated protein kinase 3 1.38612
MAPK1 mitogen-activated protein kinase 1 1.37817
CASP3 caspase 3, apoptosis-related cysteine peptidase 1.36619
CAT catalase 1.3639
JUN jun proto-oncogene 1.35906
IGF2 insulin-like growth factor 2 1.35531
SOD2 superoxide dismutase 2, mitochondrial 1.35098
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 1.34926
HSP90B1 heat shock protein 90kDa beta (Grp94), member 1 1.34343
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 1.34343
TTR transthyretin 1.33523
TFF1 trefoil factor 1 1.33375
CTSC cathepsin C 1.32015
TIPARP TCDD-inducible poly(ADP-ribose) polymerase 1.31776
SEPT11 septin 11 1.31089
GJB2 gap junction protein, beta 2, 26kDa 1.30881
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta 1.3085
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 1.30727
SOCS2 suppressor of cytokine signaling 2 1.30177
GADD45A growth arrest and DNA-damage-inducible, alpha 1.29996
HSPA4 heat shock 70kDa protein 4 1.29103
COMT catechol-O-methyltransferase 1.28827
FABP5 fatty acid binding protein 5 (psoriasis-associated) 1.28672
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 1.28058
TAF1D TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa 1.27905
RABGGTB Rab geranylgeranyltransferase, beta subunit 1.27905
KLF9 Kruppel-like factor 9 1.27845
TGFB3 transforming growth factor, beta 3 1.27845
CASP8 caspase 8, apoptosis-related cysteine peptidase 1.27162
BHLHE40 basic helix-loop-helix family, member e40 1.27039
EGR1 early growth response 1 1.26083
CTTN cortactin 1.25494
FMO1 flavin containing monooxygenase 1 1.25183
SREBF1 sterol regulatory element binding transcription factor 1 1.25121
CEBPB CCAAT/enhancer binding protein (C/EBP), beta 1.25121
F2R coagulation factor II (thrombin) receptor 1.24997
FSHR follicle stimulating hormone receptor 1.24496
ODC1 ornithine decarboxylase 1 1.24401
IGF1 insulin-like growth factor 1 (somatomedin C) 1.24307
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) 1.23899
DDIT3 DNA-damage-inducible transcript 3 1.23712
GADD45G growth arrest and DNA-damage-inducible, gamma 1.23584
HSPB1 heat shock 27kDa protein 1 1.23392
PDGFRB platelet-derived growth factor receptor, beta polypeptide 1.22758
CEBPD CCAAT/enhancer binding protein (C/EBP), delta 1.22599
CALR calreticulin 1.22404
PSMD1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 1.22371
S100A8 S100 calcium binding protein A8 1.21759
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast) 1.21727
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 1.21468
MET MET proto-oncogene, receptor tyrosine kinase 1.21468
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) 1.21076
MAP1B microtubule-associated protein 1B 1.21076
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 1.20229
ACTG2 actin, gamma 2, smooth muscle, enteric 1.20163
CYR61 cysteine-rich, angiogenic inducer, 61 1.199
DNMT1 DNA (cytosine-5-)-methyltransferase 1 1.199
BDNF brain-derived neurotrophic factor 1.19542
BCL2 B-cell CLL/lymphoma 2 1.19445
CASP9 caspase 9, apoptosis-related cysteine peptidase 1.19113
INHBB inhibin, beta B 1.19047
GPX1 glutathione peroxidase 1 1.18915
BRCA1 breast cancer 1, early onset 1.18882
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) 1.18718
POMC proopiomelanocortin 1.18652
FOS FBJ murine osteosarcoma viral oncogene homolog 1.18193
SOD1 superoxide dismutase 1, soluble 1.18159
CXCR4 chemokine (C-X-C motif) receptor 4 1.17761
GSK3B glycogen synthase kinase 3 beta 1.17662
KLHL24 kelch-like family member 24 1.17629
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.17563
GSTP1 glutathione S-transferase pi 1 1.1753
CARD6 caspase recruitment domain family, member 6 1.1753
PDCD6 programmed cell death 6 1.17497
PRSS35 protease, serine, 35 1.17431
LCN2 lipocalin 2 1.17235
FHL2 four and a half LIM domains 2 1.17134
SFN stratifin 1.17
ACTB actin, beta 1.16799
CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 1.16203
SLC29A1 solute carrier family 29 (equilibrative nucleoside transporter), member 1 1.15899
LHCGR luteinizing hormone/choriogonadotropin receptor 1.15865
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 1.15256
CCNF cyclin F 1.15156
IL6 interleukin 6 1.14575
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 1.14575
CCNB1 cyclin B1 1.14404
S100A10 S100 calcium binding protein A10 1.142
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1.1403
EMP1 epithelial membrane protein 1 1.13963
NR4A1 nuclear receptor subfamily 4, group A, member 1 1.13895
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha 1.13895
GPR19 G protein-coupled receptor 19 1.13793
GSTM1 glutathione S-transferase mu 1 1.13177
GAS6 growth arrest-specific 6 1.13075
CYCS cytochrome c, somatic 1.13075
TGFB1 transforming growth factor, beta 1 1.1294
ARSB arylsulfatase B 1.12838
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 1.12668
HMOX1 heme oxygenase 1 1.12634
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A 1.12634
GSTM2 glutathione S-transferase mu 2 (muscle) 1.12634
MYLK myosin light chain kinase 1.12461
MEG3 maternally expressed 3 (non-protein coding) 1.11911
MAP2K6 mitogen-activated protein kinase kinase 6 1.11843
BAX BCL2-associated X protein 1.11466
CD3G CD3g molecule, gamma (CD3-TCR complex) 1.11325
SLC44A1 solute carrier family 44 (choline transporter), member 1 1.1129
PIM1 Pim-1 proto-oncogene, serine/threonine kinase 1.1122
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1.11186
CD36 CD36 molecule (thrombospondin receptor) 1.11186
GAPDH glyceraldehyde-3-phosphate dehydrogenase 1.11046
FADD Fas (TNFRSF6)-associated via death domain 1.11011
CLIP4 CAP-GLY domain containing linker protein family, member 4 1.10803
TNF tumor necrosis factor 1.10803
ENC1 ectodermal-neural cortex 1 (with BTB domain) 1.10246
NEFL neurofilament, light polypeptide 1.10246
CLU clusterin 1.10211
MSMB microseminoprotein, beta- 1.10033
GAD1 glutamate decarboxylase 1 (brain, 67kDa) 1.09681
BAG2 BCL2-associated athanogene 2 1.09471
RIN2 Ras and Rab interactor 2 1.09436
DNAJB9 DnaJ (Hsp40) homolog, subfamily B, member 9 1.08904
ARG2 arginase 2 1.08904
DUSP1 dual specificity phosphatase 1 1.08762
NAMPT nicotinamide phosphoribosyltransferase 1.0869
UGT2B17 UDP glucuronosyltransferase 2 family, polypeptide B17 1.08584
EGFR epidermal growth factor receptor 1.08337
NOTCH1 notch 1 1.08196
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) 1.07983
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 1.07983
PGM3 phosphoglucomutase 3 1.07804
POR P450 (cytochrome) oxidoreductase 1.07589
ALAS1 5'-aminolevulinate synthase 1 1.07482
CABLES1 Cdk5 and Abl enzyme substrate 1 1.07411
CPEB2 cytoplasmic polyadenylation element binding protein 2 1.07411
SLC41A2 solute carrier family 41 (magnesium transporter), member 2 1.07376
KLK3 kallikrein-related peptidase 3 1.07376
PDIA3 protein disulfide isomerase family A, member 3 1.07305
JMJD6 jumonji domain containing 6 1.07199
GSR glutathione reductase 1.07093
ZNF551 zinc finger protein 551 1.07057
MARCKSL1 MARCKS-like 1 1.07022
RASL11B RAS-like, family 11, member B 1.06987
PDCD5 programmed cell death 5 1.06297
PRL prolactin 1.06297
UGP2 UDP-glucose pyrophosphorylase 2 1.06297
RCAN2 regulator of calcineurin 2 1.06261
CREBBP CREB binding protein 1.06008
PPAP2A phosphatidic acid phosphatase type 2A 1.05864
FZD1 frizzled class receptor 1 1.05573
EMP2 epithelial membrane protein 2 1.05573
HSD17B11 hydroxysteroid (17-beta) dehydrogenase 11 1.05498
MFAP4 microfibrillar-associated protein 4 1.05498
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 1.05423
HSPA9 heat shock 70kDa protein 9 (mortalin) 1.05312
IL1B interleukin 1, beta 1.05274
ATF3 activating transcription factor 3 1.05089
MAFF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F 1.04978
LDHA lactate dehydrogenase A 1.04831
GPRC5A G protein-coupled receptor, class C, group 5, member A 1.04794
DDIT4L DNA-damage-inducible transcript 4-like 1.04794
NASP nuclear autoantigenic sperm protein (histone-binding) 1.04794
ARPC1B actin related protein 2/3 complex, subunit 1B, 41kDa 1.04757
CDC25C cell division cycle 25C 1.04684
PRKCE protein kinase C, epsilon 1.04684
NOTCH2 notch 2 1.04465
FAM131B family with sequence similarity 131, member B 1.04427
MYC v-myc avian myelocytomatosis viral oncogene homolog 1.04276
CDC20 cell division cycle 20 1.04201
MBNL2 muscleblind-like splicing regulator 2 1.04126
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 1.04126
BASP1 brain abundant, membrane attached signal protein 1 1.04088
EPHX2 epoxide hydrolase 2, cytoplasmic 1.04088
TG thyroglobulin 1.03827
FBN2 fibrillin 2 1.03789
NT5DC2 5'-nucleotidase domain containing 2 1.0353
DUSP6 dual specificity phosphatase 6 1.03419
RGS3 regulator of G-protein signaling 3 1.03197
BCL2L11 BCL2-like 11 (apoptosis facilitator) 1.03159
STAT2 signal transducer and activator of transcription 2, 113kDa 1.03122
EIF4G1 eukaryotic translation initiation factor 4 gamma, 1 1.03122
SHMT1 serine hydroxymethyltransferase 1 (soluble) 1.03084
GNRHR gonadotropin-releasing hormone receptor 1.02821
SLCO2A1 solute carrier organic anion transporter family, member 2A1 1.02783
ANP32A acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 1.02783
HOXA1 homeobox A1 1.02522
NPC2 Niemann-Pick disease, type C2 1.02485
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 1.02447
ANXA1 annexin A1 1.02447
SLC27A1 solute carrier family 27 (fatty acid transporter), member 1 1.02262
TXNL1 thioredoxin-like 1 1.02225
GPX3 glutathione peroxidase 3 1.0189
FUS FUS RNA binding protein 1.0189
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4 1.0189
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 1.01701
IGFBP7 insulin-like growth factor binding protein 7 1.01549
CD59 CD59 molecule, complement regulatory protein 1.01399
PACSIN1 protein kinase C and casein kinase substrate in neurons 1 1.01324
ZIC5 Zic family member 5 1.01249
TNS1 tensin 1 1.01137