• Gene id: 596

Gene Summary

• Gene Symbol: BCL2   Gene   UCSC   Ensembl
• Aliases: Bcl-2, PPP1R50
• Gene name: BCL2, apoptosis regulator
• Alternate names: apoptosis regulator Bcl-2, B-cell CLL/lymphoma 2, protein phosphatase 1, regulatory subunit 50,
• Gene location: 18q21.33 (63320279: 63123345)     Exons: 6     NC_000018.10
• Gene summary(Entrez): This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be t
• OMIM: 151430

SNPs

rs61733416

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.63318367G>A
NC_000018.9   g.60985600G>A
NG_009361.1   g.6014C>T
NM_000633.2   c.300C>T
NM_000657.2   c.300C>T
XM_011526135.3   c.300C>T
XR_935248.3   n.1693C>T
XM_017025917.2   c.300C>T|SEQ=[G/A]|GENE=BCL2

rs7226979

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.63257737C>A
NC_000018.10   g.63257737C>G
NC_000018.10   g.63257737C>T
NC_000018.9   g.60924970C>A
NC_000018.9   g.60924970C>G
NC_000018.9   g.60924970C>T
NG_009361.1   g.66644G>T
NG_009361.1   g.66644G>C
NG_009361.1   g.66644G>A|SEQ=[C/A/G/T]|GENE=BCL

rs1801018

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.63318646T>C
NC_000018.9   g.60985879T>C
NG_009361.1   g.5735A>G
NM_000633.2   c.21A>G
NM_000657.2   c.21A>G
XM_011526135.3   c.21A>G
XR_935248.3   n.1414A>G
XM_017025917.2   c.21A>G|SEQ=[T/C]|GENE=BCL2

rs1800477

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.63318540C>T
NC_000018.9   g.60985773C>T
NG_009361.1   g.5841G>A
NM_000633.2   c.127G>A
NM_000657.2   c.127G>A
XM_011526135.3   c.127G>A
XR_935248.3   n.1520G>A
XM_017025917.2   c.127G>A
NP_000624.2   p.Ala43Thr
NP_000648.2   p.Ala43Thr
XP_011524437.1   p.

Protein Summary

• Protein general information: P10415  
  • Name: Apoptosis regulator Bcl 2
  • Length: 239  
  • Mass: 26,266
• Sequence:

  MAHAGRTGYDNREIVMKYIHYKLSQRGYEWDAGDVGAAPPGAAPAPGIFSSQPGHTPHPAASRDPVARTSPLQTP
  AAPGAAAGPALSPVPPVVHLTLRQAGDDFSRRYRRDFAEMSSQLHLTPFTARGRFATVVEELFRDGVNWGRIVAF
  FEFGGVMCVESVNREMSPLVDNIALWMTEYLNRHLHTWIQDNGGWDAFVELYGPSMRPLFDFSWLSLKTLLSLAL
  VGACITLGAYLGHK

• Structural information:
  • Interpro: IPR013278  IPR002475  IPR004725  IPR020717  IPR020726   IPR020728  IPR003093  IPR020731  IPR036834  IPR026298  
  • Prosite: PS50062 PS01080 PS01258 PS01259 PS01260 PS50063
  • PDB: 1G5M 1GJH 1YSW 2O21 2O22 2O2F 2W3L 2XA0 4AQ3 4IEH 4LVT 4LXD 4MAN 5AGW 5AGX 5FCG 5JSN
  • PDBsum: 1G5M 1GJH 1YSW 2O21 2O22 2O2F 2W3L 2XA0 4AQ3 4IEH 4LVT 4LXD 4MAN 5AGW 5AGX 5FCG 5JSN
  • DIP: 1043
  • STRING: ENSP00000329623
• Other Databases: GeneCards:  BCL2  Malacards:  BCL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0001503	ossification	IEA	biological process
GO:0001541	ovarian follicle development	IEA	biological process
GO:0001656	metanephros development	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0001662	behavioral fear response	IEA	biological process
GO:0001782	B cell homeostasis	IEA	biological process
GO:0001836	release of cytochrome c from mitochondria	NAS	biological process
GO:0001836	release of cytochrome c from mitochondria	ISS	biological process
GO:0001952	regulation of cell-matrix adhesion	IEA	biological process
GO:0002020	protease binding	IDA	molecular function
GO:0002320	lymphoid progenitor cell differentiation	IEA	biological process
GO:0002326	B cell lineage commitment	IEA	biological process
GO:0002931	response to ischemia	IEA	biological process
GO:0003014	renal system process	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0006582	melanin metabolic process	IEA	biological process
GO:0006808	regulation of nitrogen utilization	IEA	biological process
GO:0006915	apoptotic process	IDA	biological process
GO:0006915	apoptotic process	IDA	biological process
GO:0006959	humoral immune response	TAS	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0007015	actin filament organization	IEA	biological process
GO:0007409	axonogenesis	IEA	biological process
GO:0007565	female pregnancy	NAS	biological process
GO:0007569	cell aging	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0008584	male gonad development	IEA	biological process
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	IDA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IBA	biological process
GO:0008631	intrinsic apoptotic signaling pathway in response to oxidative stress	IEA	biological process
GO:0009314	response to radiation	NAS	biological process
GO:0009636	response to toxic substance	IDA	biological process
GO:0009636	response to toxic substance	IDA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0010039	response to iron ion	IDA	biological process
GO:0010224	response to UV-B	IEA	biological process
GO:0010332	response to gamma radiation	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010507	negative regulation of autophagy	TAS	biological process
GO:0010523	negative regulation of calcium ion transport into cytosol	IEA	biological process
GO:0010559	regulation of glycoprotein biosynthetic process	IEA	biological process
GO:0014031	mesenchymal cell development	IEA	biological process
GO:0014042	positive regulation of neuron maturation	IEA	biological process
GO:0014911	positive regulation of smooth muscle cell migration	IEA	biological process
GO:0015267	channel activity	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0016049	cell growth	IEA	biological process
GO:0016248	channel inhibitor activity	IDA	molecular function
GO:0018105	peptidyl-serine phosphorylation	IEA	biological process
GO:0018107	peptidyl-threonine phosphorylation	IEA	biological process
GO:0021747	cochlear nucleus development	IEA	biological process
GO:0022612	gland morphogenesis	IEA	biological process
GO:0022898	regulation of transmembrane transporter activity	IDA	biological process
GO:0030279	negative regulation of ossification	IEA	biological process
GO:0030307	positive regulation of cell growth	IDA	biological process
GO:0030308	negative regulation of cell growth	IEA	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0030336	negative regulation of cell migration	IEA	biological process
GO:0030890	positive regulation of B cell proliferation	IMP	biological process
GO:0031069	hair follicle morphogenesis	IEA	biological process
GO:0031103	axon regeneration	IEA	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0031647	regulation of protein stability	IEA	biological process
GO:0031965	nuclear membrane	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0032469	endoplasmic reticulum calcium ion homeostasis	TAS	biological process
GO:0032835	glomerulus development	IEA	biological process
GO:0032848	negative regulation of cellular pH reduction	IDA	biological process
GO:0033033	negative regulation of myeloid cell apoptotic process	IEA	biological process
GO:0033077	T cell differentiation in thymus	IEA	biological process
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IEA	biological process
GO:0033689	negative regulation of osteoblast proliferation	IEA	biological process
GO:0034097	response to cytokine	IDA	biological process
GO:0035094	response to nicotine	IDA	biological process
GO:0035265	organ growth	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0042100	B cell proliferation	IDA	biological process
GO:0042149	cellular response to glucose starvation	IEA	biological process
GO:0042493	response to drug	IMP	biological process
GO:0042493	response to drug	IDA	biological process
GO:0042542	response to hydrogen peroxide	IEA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043029	T cell homeostasis	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IGI	biological process
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0043209	myelin sheath	IEA	cellular component
GO:0043375	CD8-positive, alpha-beta T cell lineage commitment	IEA	biological process
GO:0043496	regulation of protein homodimerization activity	IDA	biological process
GO:0043497	regulation of protein heterodimerization activity	IDA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043583	ear development	IEA	biological process
GO:0045069	regulation of viral genome replication	IEA	biological process
GO:0045636	positive regulation of melanocyte differentiation	IEA	biological process
GO:0046671	negative regulation of retinal cell programmed cell death	IEA	biological process
GO:0046902	regulation of mitochondrial membrane permeability	ISS	biological process
GO:0046930	pore complex	IDA	cellular component
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0048041	focal adhesion assembly	IEA	biological process
GO:0048536	spleen development	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0048546	digestive tract morphogenesis	IEA	biological process
GO:0048599	oocyte development	IEA	biological process
GO:0048743	positive regulation of skeletal muscle fiber development	IEA	biological process
GO:0048753	pigment granule organization	IEA	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0050853	B cell receptor signaling pathway	IMP	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0051402	neuron apoptotic process	TAS	biological process
GO:0051434	BH3 domain binding	IPI	molecular function
GO:0051607	defense response to virus	IDA	biological process
GO:0051721	protein phosphatase 2A binding	IEA	molecular function
GO:0051881	regulation of mitochondrial membrane potential	ISS	biological process
GO:0051902	negative regulation of mitochondrial depolarization	TAS	biological process
GO:0051924	regulation of calcium ion transport	IDA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IDA	biological process
GO:0071310	cellular response to organic substance	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0072593	reactive oxygen species metabolic process	IEA	biological process
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IEA	biological process
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	IEA	biological process
GO:2000378	negative regulation of reactive oxygen species metabolic process	IEA	biological process
GO:2000811	negative regulation of anoikis	IMP	biological process
GO:2001234	negative regulation of apoptotic signaling pathway	IMP	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IGI	biological process
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IDA	biological process
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	TAS	biological process
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0000902	cell morphogenesis	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0001541	ovarian follicle development	IEA	biological process
GO:0001656	metanephros development	IEA	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0001662	behavioral fear response	IEA	biological process
GO:0001776	leukocyte homeostasis	IEA	biological process
GO:0001782	B cell homeostasis	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001836	release of cytochrome c from mitochondria	IEA	biological process
GO:0001836	release of cytochrome c from mitochondria	NAS	biological process
GO:0001836	release of cytochrome c from mitochondria	ISS	biological process
GO:0001952	regulation of cell-matrix adhesion	IEA	biological process
GO:0002020	protease binding	IDA	molecular function
GO:0002260	lymphocyte homeostasis	IEA	biological process
GO:0002320	lymphoid progenitor cell differentiation	IEA	biological process
GO:0002326	B cell lineage commitment	IEA	biological process
GO:0002360	T cell lineage commitment	IEA	biological process
GO:0002520	immune system development	IEA	biological process
GO:0002931	response to ischemia	IEA	biological process
GO:0003014	renal system process	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005622	intracellular	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0006582	melanin metabolic process	IEA	biological process
GO:0006808	regulation of nitrogen utilization	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006915	apoptotic process	IDA	biological process
GO:0006915	apoptotic process	IDA	biological process
GO:0006959	humoral immune response	TAS	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0007015	actin filament organization	IEA	biological process
GO:0007409	axonogenesis	IEA	biological process
GO:0007565	female pregnancy	NAS	biological process
GO:0007569	cell aging	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0008283	cell proliferation	IEA	biological process
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	IDA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IBA	biological process
GO:0008631	intrinsic apoptotic signaling pathway in response to oxidative stress	IEA	biological process
GO:0008637	apoptotic mitochondrial changes	IEA	biological process
GO:0009314	response to radiation	NAS	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0009636	response to toxic substance	IDA	biological process
GO:0009636	response to toxic substance	IDA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0010039	response to iron ion	IDA	biological process
GO:0010224	response to UV-B	IEA	biological process
GO:0010332	response to gamma radiation	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010506	regulation of autophagy	IEA	biological process
GO:0010507	negative regulation of autophagy	IEA	biological process
GO:0010507	negative regulation of autophagy	TAS	biological process
GO:0010523	negative regulation of calcium ion transport into cytosol	IEA	biological process
GO:0010559	regulation of glycoprotein biosynthetic process	IEA	biological process
GO:0014031	mesenchymal cell development	IEA	biological process
GO:0014042	positive regulation of neuron maturation	IEA	biological process
GO:0014911	positive regulation of smooth muscle cell migration	IEA	biological process
GO:0015267	channel activity	IDA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016049	cell growth	IEA	biological process
GO:0016248	channel inhibitor activity	IDA	molecular function
GO:0016337	single organismal cell-cell adhesion	IEA	biological process
GO:0018105	peptidyl-serine phosphorylation	IEA	biological process
GO:0018107	peptidyl-threonine phosphorylation	IEA	biological process
GO:0019903	protein phosphatase binding	IEA	molecular function
GO:0021747	cochlear nucleus development	IEA	biological process
GO:0022612	gland morphogenesis	IEA	biological process
GO:0022898	regulation of transmembrane transporter activity	IDA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0030183	B cell differentiation	IEA	biological process
GO:0030217	T cell differentiation	IEA	biological process
GO:0030279	negative regulation of ossification	IEA	biological process
GO:0030307	positive regulation of cell growth	IDA	biological process
GO:0030308	negative regulation of cell growth	IEA	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0030336	negative regulation of cell migration	IEA	biological process
GO:0030890	positive regulation of B cell proliferation	IMP	biological process
GO:0031069	hair follicle morphogenesis	IEA	biological process
GO:0031103	axon regeneration	IEA	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0031647	regulation of protein stability	IEA	biological process
GO:0031965	nuclear membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IEA	biological process
GO:0032469	endoplasmic reticulum calcium ion homeostasis	TAS	biological process
GO:0032835	glomerulus development	IEA	biological process
GO:0032848	negative regulation of cellular pH reduction	IDA	biological process
GO:0032880	regulation of protein localization	IEA	biological process
GO:0033033	negative regulation of myeloid cell apoptotic process	IEA	biological process
GO:0033077	T cell differentiation in thymus	IEA	biological process
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IEA	biological process
GO:0033689	negative regulation of osteoblast proliferation	IEA	biological process
GO:0034097	response to cytokine	IEA	biological process
GO:0034097	response to cytokine	IDA	biological process
GO:0035094	response to nicotine	IDA	biological process
GO:0035265	organ growth	IEA	biological process
GO:0040007	growth	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0042100	B cell proliferation	IDA	biological process
GO:0042149	cellular response to glucose starvation	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042493	response to drug	IMP	biological process
GO:0042493	response to drug	IDA	biological process
GO:0042542	response to hydrogen peroxide	IEA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0043029	T cell homeostasis	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IGI	biological process
GO:0043067	regulation of programmed cell death	IEA	biological process
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0043209	myelin sheath	IEA	cellular component
GO:0043375	CD8-positive, alpha-beta T cell lineage commitment	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0043496	regulation of protein homodimerization activity	IDA	biological process
GO:0043497	regulation of protein heterodimerization activity	IDA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043583	ear development	IEA	biological process
GO:0045069	regulation of viral genome replication	IEA	biological process
GO:0045636	positive regulation of melanocyte differentiation	IEA	biological process
GO:0045930	negative regulation of mitotic cell cycle	IEA	biological process
GO:0046671	negative regulation of retinal cell programmed cell death	IEA	biological process
GO:0046902	regulation of mitochondrial membrane permeability	IEA	biological process
GO:0046902	regulation of mitochondrial membrane permeability	ISS	biological process
GO:0046930	pore complex	IDA	cellular component
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0048041	focal adhesion assembly	IEA	biological process
GO:0048066	developmental pigmentation	IEA	biological process
GO:0048070	regulation of developmental pigmentation	IEA	biological process
GO:0048087	positive regulation of developmental pigmentation	IEA	biological process
GO:0048536	spleen development	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0048545	response to steroid hormone	IEA	biological process
GO:0048546	digestive tract morphogenesis	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0048599	oocyte development	IEA	biological process
GO:0048743	positive regulation of skeletal muscle fiber development	IEA	biological process
GO:0048753	pigment granule organization	IEA	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0050853	B cell receptor signaling pathway	IMP	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0051402	neuron apoptotic process	IEA	biological process
GO:0051402	neuron apoptotic process	TAS	biological process
GO:0051434	BH3 domain binding	IPI	molecular function
GO:0051607	defense response to virus	IDA	biological process
GO:0051721	protein phosphatase 2A binding	IEA	molecular function
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0051881	regulation of mitochondrial membrane potential	IEA	biological process
GO:0051881	regulation of mitochondrial membrane potential	ISS	biological process
GO:0051902	negative regulation of mitochondrial depolarization	TAS	biological process
GO:0051924	regulation of calcium ion transport	IDA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IDA	biological process
GO:0071310	cellular response to organic substance	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0072593	reactive oxygen species metabolic process	IEA	biological process
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IEA	biological process
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	IEA	biological process
GO:2000378	negative regulation of reactive oxygen species metabolic process	IEA	biological process
GO:2000811	negative regulation of anoikis	IMP	biological process
GO:2001234	negative regulation of apoptotic signaling pathway	IEA	biological process
GO:2001234	negative regulation of apoptotic signaling pathway	IMP	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IGI	biological process
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IDA	biological process
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	TAS	biological process
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0001836	release of cytochrome c from mitochondria	NAS	biological process
GO:0001836	release of cytochrome c from mitochondria	ISS	biological process
GO:0002020	protease binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0006915	apoptotic process	IDA	biological process
GO:0006915	apoptotic process	IDA	biological process
GO:0006959	humoral immune response	TAS	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0007565	female pregnancy	NAS	biological process
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	IDA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IBA	biological process
GO:0009314	response to radiation	NAS	biological process
GO:0009636	response to toxic substance	IDA	biological process
GO:0009636	response to toxic substance	IDA	biological process
GO:0010039	response to iron ion	IDA	biological process
GO:0010507	negative regulation of autophagy	TAS	biological process
GO:0015267	channel activity	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0016248	channel inhibitor activity	IDA	molecular function
GO:0022898	regulation of transmembrane transporter activity	IDA	biological process
GO:0030307	positive regulation of cell growth	IDA	biological process
GO:0030890	positive regulation of B cell proliferation	IMP	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0031965	nuclear membrane	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0032469	endoplasmic reticulum calcium ion homeostasis	TAS	biological process
GO:0032848	negative regulation of cellular pH reduction	IDA	biological process
GO:0034097	response to cytokine	IDA	biological process
GO:0035094	response to nicotine	IDA	biological process
GO:0042100	B cell proliferation	IDA	biological process
GO:0042493	response to drug	IMP	biological process
GO:0042493	response to drug	IDA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IGI	biological process
GO:0043496	regulation of protein homodimerization activity	IDA	biological process
GO:0043497	regulation of protein heterodimerization activity	IDA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0046902	regulation of mitochondrial membrane permeability	ISS	biological process
GO:0046930	pore complex	IDA	cellular component
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0050853	B cell receptor signaling pathway	IMP	biological process
GO:0051402	neuron apoptotic process	TAS	biological process
GO:0051434	BH3 domain binding	IPI	molecular function
GO:0051607	defense response to virus	IDA	biological process
GO:0051881	regulation of mitochondrial membrane potential	ISS	biological process
GO:0051902	negative regulation of mitochondrial depolarization	TAS	biological process
GO:0051924	regulation of calcium ion transport	IDA	biological process
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IDA	biological process
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:2000811	negative regulation of anoikis	IMP	biological process
GO:2001234	negative regulation of apoptotic signaling pathway	IMP	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IGI	biological process
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IDA	biological process
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04064	NF-kappa B signaling pathway
hsa04066	HIF-1 signaling pathway
hsa04071	Sphingolipid signaling pathway
hsa04151	PI3K-Akt signaling pathway
hsa04140	Autophagy - animal
hsa04210	Apoptosis
hsa04215	Apoptosis - multiple species
hsa04217	Necroptosis
hsa04115	p53 signaling pathway
hsa04510	Focal adhesion
hsa04621	NOD-like receptor signaling pathway
hsa04915	Estrogen signaling pathway
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04725	Cholinergic synapse
hsa04722	Neurotrophin signaling pathway
hsa05200	Pathways in cancer
hsa05206	MicroRNAs in cancer
hsa05210	Colorectal cancer
hsa05226	Gastric cancer
hsa05215	Prostate cancer
hsa05222	Small cell lung cancer
hsa05014	Amyotrophic lateral sclerosis
hsa05418	Fluid shear stress and atherosclerosis
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa05152	Tuberculosis
hsa05170	Human immunodeficiency virus 1 infection
hsa05162	Measles
hsa05161	Hepatitis B
hsa05168	Herpes simplex virus 1 infection
hsa05169	Epstein-Barr virus infection
hsa05145	Toxoplasmosis
hsa01521	EGFR tyrosine kinase inhibitor resistance
hsa01524	Platinum drug resistance
hsa01522	Endocrine resistance

Diseases

Associated diseases	References
Cancer	GAD: 16733517
Cancer (esophageal)	GAD: 17561354
Cancer (laryngeal)	GAD: 17557568
Cancer (leukemia)	GAD: 16960146
Cancer (lung)	GAD: 19789190
Cancer (lymphoma)	GAD: 19336552
Cancer (breast)	GAD: 8286195
Cancer (endometrial)	INFBASE: 16361289
Cancer (small cell lung)	KEGG: H00013
CANCER (cervical)	KEGG: H00030
Choriocarcinoma	KEGG: H00028
Kaposi's sarcoma	KEGG: H00041
Cancer (Nasopharyngeal)	KEGG: H00054
Cancer (Medullary)	GAD: 17909067
Cancer (myeloid leukemia)	GAD: 19520430
Cancer (non-Hodgkin lymphoma)	GAD: 2509518
Cancer (ovarian)	GAD: 20082279
Cancer (prostate)	GAD: 16638864
Cancer (Renal cell)	GAD: 19539330
Cancer (Squamous cell)	GAD: 19196738
Cancer (gastric)	KEGG: H00018
Cardiovascular disease	GAD: 17903301
Clubfoot	GAD: 17534194
Hodgkin disease	GAD: 19573080
Multiple sclerosis	GAD: 12161031
Systemic lupus erythematosus (SLE)	GAD: 12133517
Systemic lupus erythematosus (SLE)	GAD: 12133517
Diabetes	GAD: 11704806
Bone diseases	GAD: 19453261
Alzheimer's disease	GAD: 20468060
Brain injuries	GAD: 20504155
Autism	GAD: 19058789
Chronic renal failure	GAD: 21085059
Azoospermia	GAD: 20610805
Adenomyosis	INFBASE: 12212116
Oocyte competence	INFBASE: 20034411
Ectopic endometriosis	INFBASE: 9065182
Endometriosis	INFBASE: 19112572
Endometritis	INFBASE: 23351011
Ovarian endometriosis	INFBASE: 18849443
Recurrent pregnancy loss (RPL)	INFBASE: 23218678
Polycystic ovary syndrome (PCOS)	INFBASE: 17030058
Unexplained infertility	INFBASE: 16139338
Varicocele	MIK: 19666348
Male factor infertility	MIK: 26056927
Varicocele	MIK: 25168538
Non obstructive azoospermia	MIK: 24549219
Female infertility	INFBASE: 12212116
Follicular lymphoma	KEGG: H01613
Infertility	INFBASE: 23218678
Chronic obstructive pulmonary disease (COPD)	GAD: 17207023
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Azoospermia	MIK: 20610805
Hypospermatogenesis	MIK: 28361989
Male infertility	MIK: 18003625
Varicocele	MIK: 25986829
Non-obstructive azoospermia (NOA)	MIK: 24549219
Teratozoospermia	MIK: 17327269
Varicocele	MIK: 19666348

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20610805	Azoospermia	BCL2 variant  exon 2--A21G (rs1801018), G127A (rs1800477), and C300T (rs61733416)	Han Chi nese	381 (198 infertile patients with idiopathic azoospermia, 183 fertile controls)	Male infertility
18003625	Male infertility			196 ((TB; 74 infertile men versus 17 controls), ejaculates (E; 95 infertile men versus 10 controls))	Male infertility
25168538	Male infertility with varicocele			111 (20 healthy fertile men, 16 fertile women with varicocele, 29 infertile oligoasthenoteratozoospermic men without varocele, 46 infertile oligoasthenoteratozoospermic men with Vx )	Male infertility	BAX BCL2
24549219	non-obstructive azoospermia (NOA)	rs1406714 in CHD2, rs2126986 in GNAO1, rs7226979 in BCL2		3982 (1653 NOA cases, 2329 controls)	Male infertility	CHD2 GNAO1 and BCL2
19666348	Varicocele			20 (10 patients with grade 3 left varicocele, 10 patients with left indirect inguinal hernia)	Male infertility	Bcl-2  Fas caspase-8 and caspase-9
25986829	Male infertility, varicocele				Male infertility	BAX BCL2
20610805	Azoospermia	Ala43Thr	Han-Chi nese	381 (198 infertile patients with idiopathic azoospermia, 183 fertile controls)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray