PSMD12 (proteasome 26S subunit, non-ATPase 12)

Gene

• Entrez ID: 5718
• Gene name: Proteasome 26S subunit, non-ATPase 12
• Gene symbol: PSMD12
• Synonyms: Rpn5, STISS, p55
• Chromosome: 17
• Chromosome location: 17q24.2
• Summary: The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs895130488	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, stop gained
rs1114167442	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1114167443	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1114167444	T>C	Pathogenic	Splice acceptor variant, non coding transcript variant
rs1403781576	C>A,G	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs1567954436	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1567955779	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1598560094	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1598563750	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1598574154	GA>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021584	hsa-miR-142-3p	Microarray	17612493
MIRT021773	hsa-miR-132-3p	Microarray	17612493
MIRT031616	hsa-miR-16-5p	Proteomics	18668040
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT1270440	hsa-miR-4742-3p	CLIP-seq
MIRT1270441	hsa-miR-548ac	CLIP-seq
MIRT1270442	hsa-miR-548d-3p	CLIP-seq
MIRT1270443	hsa-miR-548z	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT1270446	hsa-miR-208a	CLIP-seq
MIRT1270447	hsa-miR-208b	CLIP-seq
MIRT1270448	hsa-miR-3617	CLIP-seq
MIRT1270449	hsa-miR-3658	CLIP-seq
MIRT1270450	hsa-miR-371-5p	CLIP-seq
MIRT1270451	hsa-miR-371b-5p	CLIP-seq
MIRT1270452	hsa-miR-4282	CLIP-seq
MIRT1270453	hsa-miR-4294	CLIP-seq
MIRT1270454	hsa-miR-4528	CLIP-seq
MIRT1270455	hsa-miR-4789-5p	CLIP-seq
MIRT1270456	hsa-miR-499-5p	CLIP-seq
MIRT1270441	hsa-miR-548ac	CLIP-seq
MIRT1270442	hsa-miR-548d-3p	CLIP-seq
MIRT1270443	hsa-miR-548z	CLIP-seq
MIRT1270457	hsa-miR-641	CLIP-seq
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT2079482	hsa-miR-3667-5p	CLIP-seq
MIRT2079483	hsa-miR-4263	CLIP-seq
MIRT2079484	hsa-miR-4422	CLIP-seq
MIRT2079485	hsa-miR-4471	CLIP-seq
MIRT2079486	hsa-miR-4509	CLIP-seq
MIRT2079487	hsa-miR-4744	CLIP-seq
MIRT2079488	hsa-miR-4799-5p	CLIP-seq
MIRT2079489	hsa-miR-576-5p	CLIP-seq
MIRT2079490	hsa-miR-590-3p	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT2079491	hsa-miR-617	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT2305768	hsa-miR-132	CLIP-seq
MIRT2305769	hsa-miR-2110	CLIP-seq
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT2305770	hsa-miR-212	CLIP-seq
MIRT2305771	hsa-miR-3150a-3p	CLIP-seq
MIRT2305772	hsa-miR-4271	CLIP-seq
MIRT2079485	hsa-miR-4471	CLIP-seq
MIRT2305773	hsa-miR-4725-3p	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT2079491	hsa-miR-617	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT2305774	hsa-miR-642b	CLIP-seq
MIRT2393149	hsa-miR-105	CLIP-seq
MIRT2393150	hsa-miR-129-5p	CLIP-seq
MIRT2305769	hsa-miR-2110	CLIP-seq
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT2305771	hsa-miR-3150a-3p	CLIP-seq
MIRT2305772	hsa-miR-4271	CLIP-seq
MIRT2079485	hsa-miR-4471	CLIP-seq
MIRT2393151	hsa-miR-450b-5p	CLIP-seq
MIRT2305773	hsa-miR-4725-3p	CLIP-seq
MIRT1270440	hsa-miR-4742-3p	CLIP-seq
MIRT2393152	hsa-miR-507	CLIP-seq
MIRT2393153	hsa-miR-518a-5p	CLIP-seq
MIRT2393154	hsa-miR-527	CLIP-seq
MIRT2393155	hsa-miR-557	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT2305774	hsa-miR-642b	CLIP-seq
MIRT2393156	hsa-miR-767-5p	CLIP-seq
MIRT2393149	hsa-miR-105	CLIP-seq
MIRT2393150	hsa-miR-129-5p	CLIP-seq
MIRT1270446	hsa-miR-208a	CLIP-seq
MIRT1270447	hsa-miR-208b	CLIP-seq
MIRT2305769	hsa-miR-2110	CLIP-seq
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT2305771	hsa-miR-3150a-3p	CLIP-seq
MIRT1270448	hsa-miR-3617	CLIP-seq
MIRT1270449	hsa-miR-3658	CLIP-seq
MIRT1270450	hsa-miR-371-5p	CLIP-seq
MIRT1270451	hsa-miR-371b-5p	CLIP-seq
MIRT2603047	hsa-miR-3974	CLIP-seq
MIRT2305772	hsa-miR-4271	CLIP-seq
MIRT1270452	hsa-miR-4282	CLIP-seq
MIRT1270453	hsa-miR-4294	CLIP-seq
MIRT2079485	hsa-miR-4471	CLIP-seq
MIRT2393151	hsa-miR-450b-5p	CLIP-seq
MIRT2305773	hsa-miR-4725-3p	CLIP-seq
MIRT1270440	hsa-miR-4742-3p	CLIP-seq
MIRT2603048	hsa-miR-4766-5p	CLIP-seq
MIRT2603049	hsa-miR-488	CLIP-seq
MIRT1270456	hsa-miR-499-5p	CLIP-seq
MIRT2393152	hsa-miR-507	CLIP-seq
MIRT2393153	hsa-miR-518a-5p	CLIP-seq
MIRT2393154	hsa-miR-527	CLIP-seq
MIRT2393155	hsa-miR-557	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT1270457	hsa-miR-641	CLIP-seq
MIRT2305774	hsa-miR-642b	CLIP-seq
MIRT2393156	hsa-miR-767-5p	CLIP-seq
MIRT2393149	hsa-miR-105	CLIP-seq
MIRT2393150	hsa-miR-129-5p	CLIP-seq
MIRT1270446	hsa-miR-208a	CLIP-seq
MIRT1270447	hsa-miR-208b	CLIP-seq
MIRT2305769	hsa-miR-2110	CLIP-seq
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT2305771	hsa-miR-3150a-3p	CLIP-seq
MIRT1270448	hsa-miR-3617	CLIP-seq
MIRT1270449	hsa-miR-3658	CLIP-seq
MIRT1270450	hsa-miR-371-5p	CLIP-seq
MIRT1270451	hsa-miR-371b-5p	CLIP-seq
MIRT2603047	hsa-miR-3974	CLIP-seq
MIRT2305772	hsa-miR-4271	CLIP-seq
MIRT1270452	hsa-miR-4282	CLIP-seq
MIRT1270453	hsa-miR-4294	CLIP-seq
MIRT2079485	hsa-miR-4471	CLIP-seq
MIRT2393151	hsa-miR-450b-5p	CLIP-seq
MIRT2305773	hsa-miR-4725-3p	CLIP-seq
MIRT1270440	hsa-miR-4742-3p	CLIP-seq
MIRT2603048	hsa-miR-4766-5p	CLIP-seq
MIRT2603049	hsa-miR-488	CLIP-seq
MIRT1270456	hsa-miR-499-5p	CLIP-seq
MIRT2393152	hsa-miR-507	CLIP-seq
MIRT2393153	hsa-miR-518a-5p	CLIP-seq
MIRT2393154	hsa-miR-527	CLIP-seq
MIRT2393155	hsa-miR-557	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT1270457	hsa-miR-641	CLIP-seq
MIRT2305774	hsa-miR-642b	CLIP-seq
MIRT2393156	hsa-miR-767-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0000209	Process	Protein polyubiquitination	TAS
GO:0000502	Component	Proteasome complex	IDA	17323924
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0002479	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS
GO:0005515	Function	Protein binding	IPI	16990800, 26030138, 28514442
GO:0005576	Component	Extracellular region	TAS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005838	Component	Proteasome regulatory particle	TAS	9426256
GO:0006521	Process	Regulation of cellular amino acid metabolic process	TAS
GO:0008541	Component	Proteasome regulatory particle, lid subcomplex	IBA	21873635
GO:0010972	Process	Negative regulation of G2/M transition of mitotic cell cycle	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016579	Process	Protein deubiquitination	TAS
GO:0022624	Component	Proteasome accessory complex	ISS
GO:0031145	Process	Anaphase-promoting complex-dependent catabolic process	TAS
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	TAS
GO:0031595	Component	Nuclear proteasome complex	IBA	21873635
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	TAS
GO:0034774	Component	Secretory granule lumen	TAS
GO:0038061	Process	NIK/NF-kappaB signaling	TAS
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0043488	Process	Regulation of mRNA stability	TAS
GO:0043687	Process	Post-translational protein modification	TAS
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0055085	Process	Transmembrane transport	TAS
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	TAS
GO:0061418	Process	Regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070498	Process	Interleukin-1-mediated signaling pathway	TAS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	TAS
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	TAS
GO:1901990	Process	Regulation of mitotic cell cycle phase transition	TAS
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	TAS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 604450
• HGNC: 9557
• e!Ensembl: ENSG00000197170

Protein

• UniProt ID: O00232
• Protein name: 26S proteasome non-ATPase regulatory subunit 12 (26S proteasome regulatory subunit RPN5) (26S proteasome regulatory subunit p55)
• Protein function: Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which
• PDB: 5GJQ, 5GJR, 5L4K, 5LN3, 5M32, 5T0C, 5T0G, 5T0H, 5T0I, 5T0J, 5VFP, 5VFQ, 5VFR, 5VFS, 5VFT, 5VFU, 5VGZ, 5VHF, 5VHH, 5VHI, 5VHS, 6MSB, 6MSD, 6MSE, 6MSG, 6MSH, 6MSJ, 6MSK, 6WJD, 6WJN, 7QXN, 7QXP, 7QXU, 7QXW, 7QXX, 7QY7, 7QYA, 7QYB, 7W37, 7W38, 7W39, 7W3A, 7W3B, 7W3C, 7W3F, 7W3G, 7W3H, 7W3I, 7W3J, 7W3K, 7W3M
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01399	PCI	300 → 417	PCI domain	Domain
  PF18098	RPN5_C	422 → 454	26S proteasome regulatory subunit RPN5 C-terminal domain	Domain

• Sequence:

  MADGGSERADGRIVKMEVDYSATVDQRLPECAKLAKEGRLQEVIETLLSLEKQTRTASDM
  VSTSRILVAVVKMCYEAKEWDLLNENIMLLSKRRSQLKQAVAKMVQQCCTYVEEITDLPI
  KLRLIDTLRMVTEGKIYVEIERARLTKTLATIKEQNGDVKEAASILQELQVETYGSMEKK
  ERVEFILEQMRLCLAVKDYIRTQIISKKINTKFFQEENTEKLKLKYYNLMIQLDQHEGSY
  LSICKHYRAIYDTPCIQAESEKWQQALKSVVLYVILAPFDNEQSDLVHRISGDKKLEEIP
  KYKDLLKLFTTMELMRWSTLVEDYGMELRKGSLESPATDVFGSTEEGEKRWKDLKNRVVE
  HNIRIMAKYYTRITMKRMAQLLDLSVDESEAFLSNLVVNKTIFAKVDRLAGIINFQRPKD
  PNNLLNDWSQKLNSLMSLVNKTTHLIAKEEMIHNLQ

• Sequence length: 456

Pathways

KEGG:

Proteasome
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Epstein-Barr virus infection

Reactome:

Activation of NF-kappaB in B cells
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Cross-presentation of soluble exogenous antigens (endosomes)
Autodegradation of Cdh1 by Cdh1:APC/C
SCF-beta-TrCP mediated degradation of Emi1
APC/C:Cdc20 mediated degradation of Securin
APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
Cdc20:Phospho-APC/C mediated degradation of Cyclin A
Vpu mediated degradation of CD4
Vif-mediated degradation of APOBEC3G
SCF(Skp2)-mediated degradation of p27/p21
Degradation of beta-catenin by the destruction complex
Downstream TCR signaling
Separation of Sister Chromatids
FCERI mediated NF-kB activation
Autodegradation of the E3 ubiquitin ligase COP1
Regulation of ornithine decarboxylase (ODC)
ABC-family proteins mediated transport
AUF1 (hnRNP D0) binds and destabilizes mRNA
Asymmetric localization of PCP proteins
Degradation of AXIN
Degradation of DVL
Hedgehog ligand biogenesis
Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
Dectin-1 mediated noncanonical NF-kB signaling
CLEC7A (Dectin-1) signaling
Degradation of GLI1 by the proteasome
GLI3 is processed to GLI3R by the proteasome
Hedgehog 'on' state
Regulation of RAS by GAPs
TNFR2 non-canonical NF-kB pathway
NIK-->noncanonical NF-kB signaling
Defective CFTR causes cystic fibrosis
MAPK6/MAPK4 signaling
UCH proteinases
Ub-specific processing proteases
Neutrophil degranulation
CDT1 association with the CDC6:ORC:origin complex
Orc1 removal from chromatin
CDK-mediated phosphorylation and removal of Cdc6
G2/M Checkpoints
Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
Ubiquitin-dependent degradation of Cyclin D
The role of GTSE1 in G2/M progression after G2 checkpoint
FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
RUNX1 regulates transcription of genes involved in differentiation of HSCs
Regulation of RUNX2 expression and activity
Regulation of RUNX3 expression and activity
Regulation of PTEN stability and activity
Neddylation
Interleukin-1 signaling
Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Dermatitis	Contact Dermatitis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	25724174
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Mild Mental Retardation, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Patent ductus arteriosus	Patent ductus arteriosus after birth at term	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Stankiewicz-isidor syndrome	STANKIEWICZ-ISIDOR SYNDROME	rs1114167442, rs1114167443, rs895130488, rs1114167444, rs1403781576, rs1598574154	28132691
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease name	Disease term	dbSNP ID	References
17q24.2 microdeletion syndrome	17q24.2 microdeletion syndrome
Cubitus valgus	Acquired cubitus valgus
Anxiety disorder	Anxiety
Hallucinations	Hallucinations
Micrognathism	Micrognathism
Microtia	Congenital small ears
Mood swings	Mood swings
Motor delay	Clumsiness - motor delay
Otitis media	Recurrent otitis media	rs601338, rs1047781, rs1800028
Otosclerosis	Otosclerosis
Ptosis	Blepharoptosis, Ptosis	rs139920573
Pulmonary stenosis	Pulmonary Stenosis
Secondary physiologic amenorrhea	Secondary physiologic amenorrhea
Syndromic mental retardation	Non-specific syndromic intellectual disability
Synophrys	Synophrys