Bilateral Cryptorchidism Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis. (Human Phenotype Ontology, HP_0008689)
External Link https://www.disgenet.org/browser/0/1/0/C0431663
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Genes

48 genes associated with the disease Bilateral Cryptorchidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
AMH anti-Mullerian hormone
AMHR2 anti-Mullerian hormone receptor, type II
ARID1B AT rich interactive domain 1B (SWI1-like)
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
ATRX alpha thalassemia/mental retardation syndrome X-linked
BCL2L1 BCL2-like 1
BPTF bromodomain PHD finger transcription factor
C5ORF42 chromosome 5 open reading frame 42
CASP3 caspase 3, apoptosis-related cysteine peptidase
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
COLEC10 collectin sub-family member 10 (C-type lectin)
COLEC11 collectin sub-family member 11
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
FAM149B1 family with sequence similarity 149, member B1
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FGFR1 fibroblast growth factor receptor 1
GGCT gamma-glutamylcyclotransferase
GPX4 glutathione peroxidase 4
HOXA10 homeobox A10
HOXA11 homeobox A11
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
INSL3 insulin-like 3 (Leydig cell)
KIAA0753 KIAA0753
KIF7 kinesin family member 7
KISS1R KISS1 receptor
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MCF2 MCF.2 cell line derived transforming sequence
MCM5 minichromosome maintenance complex component 5
NONO non-POU domain containing, octamer-binding
OFD1 oral-facial-digital syndrome 1
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
POLE polymerase (DNA directed), epsilon, catalytic subunit
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RXFP2 relaxin/insulin-like family peptide receptor 2
SOS1 son of sevenless homolog 1 (Drosophila)
SRY sex determining region Y
TCTN3 tectonic family member 3
TMEM216 transmembrane protein 216
TWIST1 twist family bHLH transcription factor 1
WT1 Wilms tumor 1
ZBTB20 zinc finger and BTB domain containing 20