• Gene id: 108

Gene Summary

• Gene Symbol: ADCY2   Gene   UCSC   Ensembl
• Aliases: AC2, HBAC2
• Gene name: adenylate cyclase 2
• Alternate names: adenylate cyclase type 2, 3',5'-cyclic AMP synthetase, ATP pyrophosphate-lyase 2, adenylate cyclase 2 (brain), adenylate cyclase II, adenylate cyclase type II, adenylyl cyclase 2, type II adenylate cyclase,
• Gene location: 5p15.31 (7396229: 7830080)     Exons: 26     NC_000005.10
• Gene summary(Entrez): This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is sti
• OMIM: 103071

SNPs

rs397508617

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

NC_000007.14   g.117642574C>A
NC_000007.14   g.117642574C>T
NC_000007.13   g.117282628C>A
NC_000007.13   g.117282628C>T
NG_016465.4   g.181791C>A
NG_016465.4   g.181791C>T
NM_000492.3   c.3854C>A
NM_000492.3   c.3854C>T
NP_000483.3   p.Ala1285Asp
NP_000483.3   p.Ala1285

rs397508328

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

NC_000007.14   g.117480095A>G
NC_000007.13   g.117120149A>G
NG_016465.4   g.19312A>G
NM_000492.3   c.1A>G
NG_056120.2   g.4125A>G
NG_056120.1   g.4125A>G
NP_000483.3   p.Met1Val|SEQ=[A/G]|GENE=CFTR

rs386134230

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

NC_000007.14   g.117606674G>A
NC_000007.13   g.117246728G>A
NG_016465.4   g.145891G>A
NM_000492.3   c.2909G>A
NP_000483.3   p.Gly970Asp|SEQ=[G/A]|GENE=CFTR

rs202179988

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

NC_000007.14   g.117611649C>T
NC_000007.13   g.117251703C>T
NG_016465.4   g.150866C>T
NM_000492.3   c.3208C>T
NG_056128.2   g.4703C>T
NG_056128.1   g.4703C>T
NP_000483.3   p.Arg1070Trp|SEQ=[C/T]|GENE=CFTR

rs193922501

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

NC_000007.14   g.117480108C>T
NC_000007.13   g.117120162C>T
NG_016465.4   g.19325C>T
NM_000492.3   c.14C>T
NG_056120.2   g.4138C>T
NG_056120.1   g.4138C>T
NP_000483.3   p.Pro5Leu|SEQ=[C/T]|GENE=CFTR

rs142540482

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

NC_000007.14   g.117509090G>A
NC_000007.13   g.117149144G>A
NG_016465.4   g.48307G>A
NM_000492.3   c.221G>A
NG_062452.1   g.728G>A
NP_000483.3   p.Arg74Gln|SEQ=[G/A]|GENE=CFTR

rs138338446

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

NC_000007.14   g.117535269G>A
NC_000007.13   g.117175323G>A
NG_016465.4   g.74486G>A
NM_000492.3   c.601G>A
NP_000483.3   p.Val201Met|SEQ=[G/A]|GENE=CFTR

rs121909046

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

NC_000007.14   g.117535318A>G
NC_000007.13   g.117175372A>G
NG_016465.4   g.74535A>G
NM_000492.3   c.650A>G
NP_000483.3   p.Glu217Gly|SEQ=[A/G]|GENE=CFTR

rs121909012

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

NC_000007.14   g.117594990C>T
NC_000007.13   g.117235044C>T
NG_016465.4   g.134207C>T
NM_000492.3   c.2551C>T
NP_000483.3   p.Arg851Ter|SEQ=[C/T]|GENE=CFTR

rs121908777

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000007.14   g.117591987_117592070del
NC_000007.14   g.117591987_117592070dup
NC_000007.13   g.117232041_117232124del
NC_000007.13   g.117232041_117232124dup
NG_016465.4   g.131204_131287del
NG_016465.4   g.131204_131287dup
NM_000492.3   c.1820_1903del
NM_000492  

rs121908752

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

NC_000007.14   g.117535285T>G
NC_000007.13   g.117175339T>G
NG_016465.4   g.74502T>G
NM_000492.3   c.617T>G
NP_000483.3   p.Leu206Trp|SEQ=[T/G]|GENE=CFTR

rs113993960

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000007.14   g.117559592_117559594del
NC_000007.13   g.117199646_117199648del
NG_016465.4   g.98809_98811del
NM_000492.3   c.1521_1523del
NP_000483.3   p.Phe508del|SEQ=[TCTT/T]|GENE=CFTR
CFTR-AS1   111082987

rs80034486

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

NC_000007.14   g.117652877C>G
NC_000007.13   g.117292931C>G
NG_016465.4   g.192094C>G
NM_000492.3   c.3909C>G
NP_000483.3   p.Asn1303Lys|SEQ=[C/G]|GENE=CFTR

rs75541969

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

NC_000007.14   g.117614699G>C
NC_000007.13   g.117254753G>C
NG_016465.4   g.153916G>C
NM_000492.3   c.3454G>C
NP_000483.3   p.Asp1152His|SEQ=[G/C]|GENE=CFTR

rs35576928

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

NC_000016.10   g.11281137C>A
NC_000016.10   g.11281137C>G
NC_000016.9   g.11374994C>A
NC_000016.9   g.11374994C>G
NM_002761.3   c.102G>T
NM_002761.3   c.102G>C
NM_002761.2   c.102G>T
NM_002761.2   c.102G>C
NP_002752.1   p.Arg34Ser
NP_002752.1   p.Arg34Ser|SEQ=[C/A/G]|GE

rs2301365

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

NC_000016.10   g.11281429G>T
NC_000016.9   g.11375286G>T|SEQ=[G/T]|GENE=PRM1
LOC105371082   105371082

rs2070923

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

NC_000016.10   g.11275998G>C
NC_000016.10   g.11275998G>T
NC_000016.9   g.11369855G>C
NC_000016.9   g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2
LOC105371082   105371082

rs1800100

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

NC_000007.14   g.117592169C>A
NC_000007.14   g.117592169C>T
NC_000007.13   g.117232223C>A
NC_000007.13   g.117232223C>T
NG_016465.4   g.131386C>A
NG_016465.4   g.131386C>T
NM_000492.3   c.2002C>A
NM_000492.3   c.2002C>T
NP_000483.3   p.Arg668Ser
NP_000483.3   p.Arg668Cy

rs1646022

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

NC_000016.10   g.11276073C>G
NC_000016.10   g.11276073C>T
NC_000016.9   g.11369930C>G
NC_000016.9   g.11369930C>T
NM_001286359.1   c.298G>C
NM_001286359.1   c.298G>A
NM_001286359.2   c.298G>C
NM_001286359.2   c.298G>A
NP_001273288.1   p.Ala100Pro
NP_001273288.1   p.Ala1

rs737008

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

NC_000016.10   g.11281009G>A
NC_000016.10   g.11281009G>T
NC_000016.9   g.11374866G>A
NC_000016.9   g.11374866G>T
NM_002761.3   c.139C>T
NM_002761.3   c.139C>A
NM_002761.2   c.139C>T
NM_002761.2   c.139C>A
NP_002752.1   p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1
LOC1053710  

rs222859

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

NC_000017.11   g.7294475C>A
NC_000017.10   g.7197794C>A
NM_015982.4   c.26G>T
NM_015982.3   c.26G>T
XM_017024713.2   c.26G>T
NP_057066.2   p.Gly9Val
XP_016880202.1   p.Gly9Val|SEQ=[C/A]|GENE=YBX2

rs6631

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

NC_000006.12   g.87085541A>C
NC_000006.12   g.87085541A>T
NC_000006.11   g.87795259A>C
NC_000006.11   g.87795259A>T
NM_000735.3   c.*215T>G
NM_000735.3   c.*215T>A
NM_000735.4   c.*215T>G
NM_000735.4   c.*215T>A
NM_001252383.1   c.*215T>G
NM_001252383.1   c.*215T>A
NM_0  

rs605059

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

NC_000017.11   g.42554888G>A
NC_000017.11   g.42554888G>C
NC_000017.11   g.42554888G>T
NC_000017.10   g.40706906G>A
NC_000017.10   g.40706906G>C
NC_000017.10   g.40706906G>T
NM_000413.3   c.937G>A
NM_000413.3   c.937G>C
NM_000413.3   c.937G>T
NM_000413.4   c.937G>A
NM_0  

Protein Summary

• Protein general information: Q08462  
  • Name: Adenylate cyclase type 2 (EC 4.6.1.1) (ATP pyrophosphate lyase 2) (Adenylate cyclase type II) (Adenylyl cyclase 2)
  • Length: 1091  
  • Mass: 123,603
• Sequence:

  MWQEAMRRRRYLRDRSEEAAGGGDGLPRSRDWLYESYYCMSQQHPLIVFLLLIVMGSCLALLAVFFALGLEVEDH
  VAFLITVPTALAIFFAIFILVCIESVFKKLLRLFSLVIWICLVAMGYLFMCFGGTVSPWDQVSFFLFIIFVVYTM
  LPFNMRDAIIASVLTSSSHTIVLSVCLSATPGGKEHLVWQILANVIIFICGNLAGAYHKHLMELALQQTYQDTCN
  CIKSRIKLEFEKRQQERLLLSLLPAHIAMEMKAEIIQRLQGPKAGQMENTNNFHNLYVKRHTNVSILYADIVGFT
  RLASDCSPGELVHMLNELFGKFDQIAKENECMRIKILGDCYYCVSGLPISLPNHAKNCVKMGLDMCEAIKKVRDA
  TGVDINMRVGVHSGNVLCGVIGLQKWQYDVWSHDVTLANHMEAGGVPGRVHISSVTLEHLNGAYKVEEGDGDIRD
  PYLKQHLVKTYFVINPKGERRSPQHLFRPRHTLDGAKMRASVRMTRYLESWGAAKPFAHLHHRDSMTTENGKIST
  TDVPMGQHNFQNRTLRTKSQKKRFEEELNERMIQAIDGINAQKQWLKSEDIQRISLLFYNKVLEKEYRATALPAF
  KYYVTCACLIFFCIFIVQILVLPKTSVLGISFGAAFLLLAFILFVCFAGQLLQCSKKASPLLMWLLKSSGIIANR
  PWPRISLTIITTAIILMMAVFNMFFLSDSEETIPPTANTTNTSFSASNNQVAILRAQNLFFLPYFIYSCILGLIS
  CSVFLRVNYELKMLIMMVALVGYNTILLHTHAHVLGDYSQVLFERPGIWKDLKTMGSVSLSIFFITLLVLGRQNE
  YYCRLDFLWKNKFKKEREEIETMENLNRVLLENVLPAHVAEHFLARSLKNEELYHQSYDCVCVMFASIPDFKEFY
  TESDVNKEGLECLRLLNEIIADFDDLLSKPKFSGVEKIKTIGSTYMAATGLSAVPSQEHSQEPERQYMHIGTMVE
  FAFALVGKLDAINKHSFNDFKLRVGINHGPVIAGVIGAQKPQYDIWGNTVNVASRMDSTGVLDKIQVTEETSLVL
  QTLGYTCTCRGIINVKGKGDLKTYFVNTEMSRSLSQSNVAS

• Structural information:
  • Interpro: IPR001054  IPR018297  IPR032628  IPR030672  IPR009398   IPR029787  
  • Prosite: PS00452 PS50125
  • DIP: 422
  • STRING: ENSP00000342952
• Other Databases: GeneCards:  ADCY2  Malacards:  ADCY2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000287	magnesium ion binding	ISS	molecular function
GO:0003091	renal water homeostasis	TAS	biological process
GO:0004016	adenylate cyclase activity	ISS	molecular function
GO:0004016	adenylate cyclase activity	ISS	molecular function
GO:0004016	adenylate cyclase activity	IBA	molecular function
GO:0004016	adenylate cyclase activity	NAS	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005622	intracellular	ISS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0006171	cAMP biosynthetic process	ISS	biological process
GO:0006171	cAMP biosynthetic process	ISS	biological process
GO:0006171	cAMP biosynthetic process	IBA	biological process
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	ISS	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	ISS	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IBA	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	TAS	biological process
GO:0007190	activation of adenylate cyclase activity	TAS	biological process
GO:0007193	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway	IBA	biological process
GO:0007193	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway	TAS	biological process
GO:0008179	adenylate cyclase binding	ISS	molecular function
GO:0016020	membrane	ISS	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0019933	cAMP-mediated signaling	ISS	biological process
GO:0019933	cAMP-mediated signaling	IBA	biological process
GO:0030145	manganese ion binding	ISS	molecular function
GO:0030425	dendrite	ISS	cellular component
GO:0034199	activation of protein kinase A activity	TAS	biological process
GO:0045121	membrane raft	ISS	cellular component
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:0071377	cellular response to glucagon stimulus	TAS	biological process
GO:1904322	cellular response to forskolin	ISS	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000287	magnesium ion binding	ISS	molecular function
GO:0003091	renal water homeostasis	TAS	biological process
GO:0004016	adenylate cyclase activity	IEA	molecular function
GO:0004016	adenylate cyclase activity	IEA	molecular function
GO:0004016	adenylate cyclase activity	ISS	molecular function
GO:0004016	adenylate cyclase activity	ISS	molecular function
GO:0004016	adenylate cyclase activity	IBA	molecular function
GO:0004016	adenylate cyclase activity	NAS	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005622	intracellular	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0006171	cAMP biosynthetic process	IEA	biological process
GO:0006171	cAMP biosynthetic process	ISS	biological process
GO:0006171	cAMP biosynthetic process	ISS	biological process
GO:0006171	cAMP biosynthetic process	IBA	biological process
GO:0006171	cAMP biosynthetic process	IEA	biological process
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	ISS	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	ISS	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IBA	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	TAS	biological process
GO:0007190	activation of adenylate cyclase activity	TAS	biological process
GO:0007193	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway	IBA	biological process
GO:0007193	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway	TAS	biological process
GO:0008179	adenylate cyclase binding	ISS	molecular function
GO:0009190	cyclic nucleotide biosynthetic process	IEA	biological process
GO:0016020	membrane	ISS	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016829	lyase activity	IEA	molecular function
GO:0016849	phosphorus-oxygen lyase activity	IEA	molecular function
GO:0019933	cAMP-mediated signaling	ISS	biological process
GO:0019933	cAMP-mediated signaling	IBA	biological process
GO:0030145	manganese ion binding	ISS	molecular function
GO:0030425	dendrite	ISS	cellular component
GO:0034199	activation of protein kinase A activity	TAS	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0045121	membrane raft	ISS	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:0071377	cellular response to glucagon stimulus	TAS	biological process
GO:1904322	cellular response to forskolin	ISS	biological process
GO:0000287	magnesium ion binding	ISS	molecular function
GO:0003091	renal water homeostasis	TAS	biological process
GO:0004016	adenylate cyclase activity	ISS	molecular function
GO:0004016	adenylate cyclase activity	ISS	molecular function
GO:0004016	adenylate cyclase activity	IBA	molecular function
GO:0004016	adenylate cyclase activity	NAS	molecular function
GO:0005622	intracellular	ISS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0006171	cAMP biosynthetic process	ISS	biological process
GO:0006171	cAMP biosynthetic process	ISS	biological process
GO:0006171	cAMP biosynthetic process	IBA	biological process
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	ISS	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	ISS	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IBA	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	TAS	biological process
GO:0007190	activation of adenylate cyclase activity	TAS	biological process
GO:0007193	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway	IBA	biological process
GO:0007193	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway	TAS	biological process
GO:0008179	adenylate cyclase binding	ISS	molecular function
GO:0016020	membrane	ISS	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0019933	cAMP-mediated signaling	ISS	biological process
GO:0019933	cAMP-mediated signaling	IBA	biological process
GO:0030145	manganese ion binding	ISS	molecular function
GO:0030425	dendrite	ISS	cellular component
GO:0034199	activation of protein kinase A activity	TAS	biological process
GO:0045121	membrane raft	ISS	cellular component
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:0071377	cellular response to glucagon stimulus	TAS	biological process
GO:1904322	cellular response to forskolin	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04020	Calcium signaling pathway
hsa04072	Phospholipase D signaling pathway
hsa04024	cAMP signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04114	Oocyte meiosis
hsa04540	Gap junction
hsa04611	Platelet activation
hsa04062	Chemokine signaling pathway
hsa04911	Insulin secretion
hsa04922	Glucagon signaling pathway
hsa04923	Regulation of lipolysis in adipocytes
hsa04912	GnRH signaling pathway
hsa04913	Ovarian steroidogenesis
hsa04915	Estrogen signaling pathway
hsa04914	Progesterone-mediated oocyte maturation
hsa04921	Oxytocin signaling pathway
hsa04926	Relaxin signaling pathway
hsa04918	Thyroid hormone synthesis
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04916	Melanogenesis
hsa04925	Aldosterone synthesis and secretion
hsa04927	Cortisol synthesis and secretion
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04270	Vascular smooth muscle contraction
hsa04970	Salivary secretion
hsa04971	Gastric acid secretion
hsa04972	Pancreatic secretion
hsa04976	Bile secretion
hsa04724	Glutamatergic synapse
hsa04727	GABAergic synapse
hsa04725	Cholinergic synapse
hsa04723	Retrograde endocannabinoid signaling
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04211	Longevity regulating pathway
hsa04213	Longevity regulating pathway - multiple species
hsa04713	Circadian entrainment
hsa04714	Thermogenesis
hsa05200	Pathways in cancer
hsa05032	Morphine addiction
hsa05414	Dilated cardiomyopathy
hsa04934	Cushing syndrome
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa01522	Endocrine resistance

Diseases

Associated diseases	References
Asthma	GAD: 11022011
Male factor infertility	MIK: 21048976
Disorders of sexual development (DSD)	INFBASE: 21048976
Chronic renal failure	GAD: 21085059
Cryptorchidism	MIK: 28606200
Disorders of sexual development (DSD)	MIK: 21048976
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21048976	Disorders of sexual development (DSD)			9067 (116 with idiopathic DSD, 8951 controls)	Male infertility	SRY DMRT1 FGFR2 KANK1 ADCY2 and ZEB2
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq