IGF2R (insulin like growth factor 2 receptor)

Gene

• Entrez ID: 3482
• Gene name: Insulin like growth factor 2 receptor
• Gene symbol: IGF2R
• Synonyms: CD222, CI-M6PR, CIMPR, M6P-R, M6P/IGF2R, MPR 300, MPR1, MPR300, MPRI
• Chromosome: 6
• Chromosome location: 6q25.3
• Summary: This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434587	G>T	Pathogenic	Missense variant, coding sequence variant
rs121434588	G>A	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001451	hsa-miR-16-5p	pSILAC, Proteomics;Other	18668040
MIRT016136	hsa-miR-657	Reporter assay	18602895
MIRT020747	hsa-miR-155-5p	Proteomics	18668040
MIRT021356	hsa-miR-9-5p	Microarray	17612493
MIRT029460	hsa-miR-26b-5p	Microarray	19088304
MIRT036067	hsa-miR-1271-5p	CLASH	23622248
MIRT042556	hsa-miR-423-3p	CLASH	23622248
MIRT045878	hsa-miR-128-3p	CLASH	23622248
MIRT054454	hsa-miR-211-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24039954
MIRT316722	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT440461	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT440462	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT440462	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT440462	hsa-miR-377-3p	HITS-CLIP	22927820
MIRT440463	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT457092	hsa-miR-96-3p	PAR-CLIP	23592263
MIRT457093	hsa-miR-2681-3p	PAR-CLIP	23592263
MIRT457094	hsa-miR-548m	PAR-CLIP	23592263
MIRT607437	hsa-miR-8485	HITS-CLIP	24906430
MIRT607437	hsa-miR-8485	HITS-CLIP	23824327
MIRT607437	hsa-miR-8485	HITS-CLIP	22927820
MIRT607437	hsa-miR-8485	HITS-CLIP	27418678
MIRT672614	hsa-miR-7977	HITS-CLIP	23824327
MIRT672616	hsa-miR-4284	HITS-CLIP	23824327
MIRT672617	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672618	hsa-miR-564	HITS-CLIP	23824327
MIRT672619	hsa-miR-6860	HITS-CLIP	23824327
MIRT672620	hsa-miR-612	HITS-CLIP	23824327
MIRT672621	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT672622	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT672623	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT672624	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT672625	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT672625	hsa-miR-342-3p	HITS-CLIP	22927820
MIRT672626	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT672626	hsa-miR-6777-3p	HITS-CLIP	22927820
MIRT679245	hsa-miR-6089	HITS-CLIP	23824327
MIRT679245	hsa-miR-6089	HITS-CLIP	19536157
MIRT713895	hsa-miR-561-5p	HITS-CLIP	19536157
MIRT713896	hsa-miR-6715b-3p	HITS-CLIP	19536157
MIRT713897	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT713898	hsa-miR-6715a-3p	HITS-CLIP	19536157
MIRT713899	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT713900	hsa-miR-649	HITS-CLIP	19536157
MIRT713901	hsa-miR-106a-3p	HITS-CLIP	19536157
MIRT713902	hsa-miR-1296-5p	HITS-CLIP	19536157
MIRT713903	hsa-miR-6877-5p	HITS-CLIP	19536157
MIRT713904	hsa-miR-4480	HITS-CLIP	19536157
MIRT713905	hsa-miR-5008-5p	HITS-CLIP	19536157
MIRT713906	hsa-miR-3146	HITS-CLIP	19536157
MIRT713907	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT713908	hsa-miR-4295	HITS-CLIP	19536157
MIRT713909	hsa-miR-3666	HITS-CLIP	19536157
MIRT713910	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT713911	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT713912	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT713913	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT713914	hsa-miR-4512	HITS-CLIP	19536157
MIRT713915	hsa-miR-6895-5p	HITS-CLIP	19536157
MIRT713916	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT713917	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT713918	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT736383	hsa-miR-1247-3p	PAR-CLIP	26701625
MIRT736383	hsa-miR-1247-3p	PAR-CLIP	27292025
MIRT738111	hsa-miR-1827	PAR-CLIP	26701625
MIRT738111	hsa-miR-1827	PAR-CLIP	27292025
MIRT738412	hsa-miR-1910-3p	PAR-CLIP	26701625
MIRT738412	hsa-miR-1910-3p	PAR-CLIP	27292025
MIRT741575	hsa-miR-3612	PAR-CLIP	26701625
MIRT741575	hsa-miR-3612	PAR-CLIP	27292025
MIRT746089	hsa-miR-4537	PAR-CLIP	26701625
MIRT746089	hsa-miR-4537	PAR-CLIP	27292025
MIRT746183	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT746183	hsa-miR-455-3p	PAR-CLIP	27292025
MIRT748386	hsa-miR-4756-3p	PAR-CLIP	26701625
MIRT748386	hsa-miR-4756-3p	PAR-CLIP	27292025
MIRT749830	hsa-miR-5186	PAR-CLIP	26701625
MIRT749830	hsa-miR-5186	PAR-CLIP	27292025
MIRT751245	hsa-miR-5694	PAR-CLIP	26701625
MIRT751245	hsa-miR-5694	PAR-CLIP	27292025
MIRT752798	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT752798	hsa-miR-6499-3p	PAR-CLIP	27292025
MIRT753023	hsa-miR-650	PAR-CLIP	26701625
MIRT753023	hsa-miR-650	PAR-CLIP	27292025
MIRT753137	hsa-miR-6511a-5p	PAR-CLIP	26701625
MIRT753137	hsa-miR-6511a-5p	PAR-CLIP	27292025
MIRT753343	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT753343	hsa-miR-6516-5p	PAR-CLIP	27292025
MIRT768002	hsa-miR-4252	PAR-CLIP	27292025
MIRT786518	hsa-miR-4719	HITS-CLIP	27418678
MIRT787617	hsa-miR-551b-5p	HITS-CLIP	27418678

Transcription factors

Transcription factor	Regulation	Reference
USF2	Activation	12857727

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001889	Process	Liver development	IEA
GO:0001965	Function	G-protein alpha-subunit binding	IEA
GO:0001972	Function	Retinoic acid binding	IEA
GO:0005010	Function	Insulin-like growth factor-activated receptor activity	TAS	10799489
GO:0005515	Function	Protein binding	IDA	10900005
GO:0005515	Function	Protein binding	IPI	10900005, 11387475, 11390366, 16977309, 17850746, 18046459
GO:0005520	Function	Insulin-like growth factor binding	IBA	21873635
GO:0005537	Function	Mannose binding	IEA
GO:0005641	Component	Nuclear envelope lumen	IEA
GO:0005768	Component	Endosome	IDA	15078902
GO:0005769	Component	Early endosome	IMP	17959629
GO:0005770	Component	Late endosome	IBA	21873635
GO:0005770	Component	Late endosome	IDA	22456507
GO:0005794	Component	Golgi apparatus	IDA	18817523
GO:0005802	Component	Trans-Golgi network	IBA	21873635
GO:0005802	Component	Trans-Golgi network	IMP	17959629
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	10799489
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006898	Process	Receptor-mediated endocytosis	TAS	10799489
GO:0007041	Process	Lysosomal transport	IEA
GO:0007165	Process	Signal transduction	TAS	7753549
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0009986	Component	Cell surface	IDA	10900005
GO:0010008	Component	Endosome membrane	IDA	18817523
GO:0016020	Component	Membrane	HDA	19946888
GO:0019899	Function	Enzyme binding	IEA
GO:0030118	Component	Clathrin coat	IEA
GO:0030133	Component	Transport vesicle	TAS
GO:0030139	Component	Endocytic vesicle	IDA	10900005
GO:0030140	Component	Trans-Golgi network transport vesicle	IDA	15078902
GO:0030665	Component	Clathrin-coated vesicle membrane	TAS
GO:0030667	Component	Secretory granule membrane	TAS
GO:0031100	Process	Animal organ regeneration	IEA
GO:0031995	Function	Insulin-like growth factor II binding	IEA
GO:0032526	Process	Response to retinoic acid	IEA
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0038023	Function	Signaling receptor activity	TAS	7753549
GO:0042802	Function	Identical protein binding	IPI	22681933
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0044794	Process	Positive regulation by host of viral process	IMP	20889566
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051219	Function	Phosphoprotein binding	IDA	10900005
GO:0061024	Process	Membrane organization	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1904772	Process	Response to tetrachloromethane	IEA
GO:1905394	Function	Retromer complex binding	IDA	18817523

Other IDs

• MIM: 147280
• HGNC: 5467
• e!Ensembl: ENSG00000197081

Protein

• UniProt ID: P11717
• Protein name: Cation-independent mannose-6-phosphate receptor (CI Man-6-P receptor) (CI-MPR) (M6PR) (300 kDa mannose 6-phosphate receptor) (MPR 300) (Insulin-like growth factor 2 receptor) (Insulin-like growth factor II receptor) (IGF-II receptor) (M6P/IGF2 receptor) (M6P/IGF2R) (CD antigen CD222)
• Protein function: Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes (PubMed:2963003, PubMed:18817523). Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelysosomal compartment where the low pH mediates the dissociation of the complex (PubMed:2963003, PubMed:18817523). The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer (PubMed:18817523). This receptor also binds IGF2 (PubMed:18046459). Acts as a positive regulator of T-cell coactivation by binding DPP4 (PubMed:10900005).
• PDB: 1E6F, 1GP0, 1GP3, 1GQB, 1JPL, 1JWG, 1LF8, 2CNJ, 2L29, 2L2A, 2M68, 2M6T, 2V5N, 2V5O, 2V5P, 5IEI, 6N5X, 6N5Y, 6P8I, 6V02, 6Z30, 6Z31, 6Z32
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00878	CIMR	123 → 270	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	277 → 421	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	423 → 573	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	575 → 716	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	720 → 876	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	882 → 1026	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	1031 → 1178	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	1179 → 1320	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	1322 → 1462	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	1465 → 1599	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	1603 → 1750	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	1755 → 1894	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00040	fn2	1903 → 1942	Fibronectin type II domain	Domain
  PF00878	CIMR	1946 → 2083	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	2085 → 2233	Cation-independent mannose-6-phosphate receptor repeat	Family
  PF00878	CIMR	2237 → 2290	Cation-independent mannose-6-phosphate receptor repeat	Family

• Sequence:

  MGAAAGRSPHLGPAPARRPQRSLLLLQLLLLVAAPGSTQAQAAPFPELCSYTWEAVDTKN
  NVLYKINICGSVDIVQCGPSSAVCMHDLKTRTYHSVGDSVLRSATRSLLEFNTTVSCDQQ
  GTNHRVQSSIAFLCGKTLGTPEFVTATECVHYFEWRTTAACKKDIFKANKEVPCYVFDEE
  LRKHDLNPLIKLSGAYLVDDSDPDTSLFINVCRDIDTLRDPGSQLRACPPGTAACLVRGH
  QAFDVGQPRDGLKLVRKDRLVLSYVREEAGKLDFCDGHSPAVTITFVCPSERREGTIPKL
  TAKSNCRYEIEWITEYACHRDYLESKTCSLSGEQQDVSIDLTPLAQSGGSSYISDGKEYL
  FYLNVCGETEIQFCNKKQAAVCQVKKSDTSQVKAAGRYHNQTLRYSDGDLTLIYFGGDEC
  SSGFQRMSVINFECNKTAGNDGKGTPVFTGEVDCTYFFTWDTEYACVKEKEDLLCGATDG
  KKRYDLSALVRHAEPEQNWEAVDGSQTETEKKHFFINICHRVLQEGKARGCPEDAAVCAV
  DKNGSKNLGKFISSPMKEKGNIQLSYSDGDDCGHGKKIKTNITLVCKPGDLESAPVLRTS
  GEGGCFYEFEWHTAAACVLSKTEGENCTVFDSQAGFSFDLSPLTKKNGAYKVETKKYDFY
  INVCGPVSVSPCQPDSGACQVAKSDEKTWNLGLSNAKLSYYDGMIQLNYRGGTPYNNERH
  TPRATLITFLCDRDAGVGFPEYQEEDNSTYNFRWYTSYACPEEPLECVVTDPSTLEQYDL
  SSLAKSEGGLGGNWYAMDNSGEHVTWRKYYINVCRPLNPVPGCNRYASACQMKYEKDQGS
  FTEVVSISNLGMAKTGPVVEDSGSLLLEYVNGSACTTSDGRQTTYTTRIHLVCSRGRLNS
  HPIFSLNWECVVSFLWNTEAACPIQTTTDTDQACSIRDPNSGFVFNLNPLNSSQGYNVSG
  IGKIFMFNVCGTMPVCGTILGKPASGCEAETQTEELKNWKPARPVGIEKSLQLSTEGFIT
  LTYKGPLSAKGTADAFIVRFVCNDDVYSGPLKFLHQDIDSGQGIRNTYFEFETALACVPS
  PVDCQVTDLAGNEYDLTGLSTVRKPWTAVDTSVDGRKRTFYLSVCNPLPYIPGCQGSAVG
  SCLVSEGNSWNLGVVQMSPQAAANGSLSIMYVNGDKCGNQRFSTRITFECAQISGSPAFQ
  LQDGCEYVFIWRTVEACPVVRVEGDNCEVKDPRHGNLYDLKPLGLNDTIVSAGEYTYYFR
  VCGKLSSDVCPTSDKSKVVSSCQEKREPQGFHKVAGLLTQKLTYENGLLKMNFTGGDTCH
  KVYQRSTAIFFYCDRGTQRPVFLKETSDCSYLFEWRTQYACPPFDLTECSFKDGAGNSFD
  LSSLSRYSDNWEAITGTGDPEHYLINVCKSLAPQAGTEPCPPEAAACLLGGSKPVNLGRV
  RDGPQWRDGIIVLKYVDGDLCPDGIRKKSTTIRFTCSESQVNSRPMFISAVEDCEYTFAW
  PTATACPMKSNEHDDCQVTNPSTGHLFDLSSLSGRAGFTAAYSEKGLVYMSICGENENCP
  PGVGACFGQTRISVGKANKRLRYVDQVLQLVYKDGSPCPSKSGLSYKSVISFVCRPEARP
  TNRPMLISLDKQTCTLFFSWHTPLACEQATECSVRNGSSIVDLSPLIHRTGGYEAYDESE
  DDASDTNPDFYINICQPLNPMHGVPCPAGAAVCKVPIDGPPIDIGRVAGPPILNPIANEI
  YLNFESSTPCLADKHFNYTSLIAFHCKRGVSMGTPKLLRTSECDFVFEWETPVVCPDEVR
  MDGCTLTDEQLLYSFNLSSLSTSTFKVTRDSRTYSVGVCTFAVGPEQGGCKDGGVCLLSG
  TKGASFGRLQSMKLDYRHQDEAVVLSYVNGDRCPPETDDGVPCVFPFIFNGKSYEECIIE
  SRAKLWCSTTADYDRDHEWGFCRHSNSYRTSSIIFKCDEDEDIGRPQVFSEVRGCDVTFE
  WKTKVVCPPKKLECKFVQKHKTYDLRLLSSLTGSWSLVHNGVSYYINLCQKIYKGPLGCS
  ERASICRRTTTGDVQVLGLVHTQKLGVIGDKVVVTYSKGYPCGGNKTASSVIELTCTKTV
  GRPAFKRFDIDSCTYYFSWDSRAACAVKPQEVQMVNGTITNPINGKSFSLGDIYFKLFRA
  SGDMRTNGDNYLYEIQLSSITSSRNPACSGANICQVKPNDQHFSRKVGTSDKTKYYLQDG
  DLDVVFASSSKCGKDKTKSVSSTIFFHCDPLVEDGIPEFSHETADCQYLFSWYTSAVCPL
  GVGFDSENPGDDGQMHKGLSERSQAVGAVLSLLLVALTCCLLALLLYKKERRETVISKLT
  TCCRRSSNVSYKYSKVNKEEETDENETEWLMEEIQLPPPRQGKEGQENGHITTKSVKALS
  SLHGDDQDSEDEVLTIPEVKVHSGRGAGAESSHPVRNAQSNALQEREDDRVGLVRGEKAR
  KGKSSSAQQKTVSSTKLVSFHDDSDEDLLHI

• Sequence length: 2491

Pathways

KEGG:

Virion - Herpesvirus
Lysosome
Endocytosis

Reactome:

Golgi Associated Vesicle Biogenesis
Neutrophil degranulation
Retrograde transport at the Trans-Golgi-Network
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Parkinson disease	Parkinson Disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs-1, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	19276553
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778
Kidney disease	Chronic Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	29545352
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29610475
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs780263938, rs756636036, rs775394591	21433279, 20620343
Alzheimer disease	Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs-1, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	15750215

Unknown
Disease name	Disease term	dbSNP ID	References
Posterolateral diaphragmatic hernia	Congenital hernia of foramen of Bochdalek		21433279, 20620343
Morgagni diaphragmatic hernia	Congenital hernia of foramen of Morgagni		21433279, 20620343
Kidney failure	Kidney Failure, Chronic		29545352
Lewy body disease	Lewy Body Disease		19276553
Liver carcinoma	Liver carcinoma		15057872
Lung diseases	Lung diseases		21433279, 20620343
Micronodular cirrhosis	Micronodular cirrhosis
Prostatic neoplasms	Prostatic Neoplasms		29610475
Senile dementia	Presenile dementia, Acute Confusional Senile Dementia		15750215