STUB1 (STIP1 homology and U-box containing protein 1)

Gene

• Entrez ID: 10273
• Gene name: STIP1 homology and U-box containing protein 1
• Gene symbol: STUB1
• Synonyms: CHIP, HSPABP2, NY-CO-7, SCA48, SCAR16, SDCCAG7, UBOX1
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other t

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028574	hsa-miR-30a-5p	Proteomics	18668040
MIRT029709	hsa-miR-26b-5p	Microarray	19088304
MIRT1399920	hsa-miR-1178	CLIP-seq
MIRT1399921	hsa-miR-1275	CLIP-seq
MIRT1399922	hsa-miR-1290	CLIP-seq
MIRT1399923	hsa-miR-1913	CLIP-seq
MIRT1399924	hsa-miR-1915	CLIP-seq
MIRT1399925	hsa-miR-198	CLIP-seq
MIRT1399926	hsa-miR-324-3p	CLIP-seq
MIRT1399927	hsa-miR-331-3p	CLIP-seq
MIRT1399928	hsa-miR-3677-5p	CLIP-seq
MIRT1399929	hsa-miR-3690	CLIP-seq
MIRT1399930	hsa-miR-3924	CLIP-seq
MIRT1399931	hsa-miR-3941	CLIP-seq
MIRT1399932	hsa-miR-4271	CLIP-seq
MIRT1399933	hsa-miR-4308	CLIP-seq
MIRT1399934	hsa-miR-4435	CLIP-seq
MIRT1399935	hsa-miR-4525	CLIP-seq
MIRT1399936	hsa-miR-4651	CLIP-seq
MIRT1399937	hsa-miR-466	CLIP-seq
MIRT1399938	hsa-miR-4665-5p	CLIP-seq
MIRT1399939	hsa-miR-4672	CLIP-seq
MIRT1399940	hsa-miR-4685-5p	CLIP-seq
MIRT1399941	hsa-miR-4688	CLIP-seq
MIRT1399942	hsa-miR-4723-5p	CLIP-seq
MIRT1399943	hsa-miR-4725-3p	CLIP-seq
MIRT1399944	hsa-miR-4727-5p	CLIP-seq
MIRT1399945	hsa-miR-4803	CLIP-seq
MIRT1399946	hsa-miR-520a-5p	CLIP-seq
MIRT1399947	hsa-miR-525-5p	CLIP-seq
MIRT1399948	hsa-miR-556-3p	CLIP-seq
MIRT1399949	hsa-miR-608	CLIP-seq
MIRT1399950	hsa-miR-625	CLIP-seq
MIRT1399951	hsa-miR-873	CLIP-seq
MIRT1399952	hsa-miR-922	CLIP-seq
MIRT1399921	hsa-miR-1275	CLIP-seq
MIRT2119911	hsa-miR-132	CLIP-seq
MIRT1399925	hsa-miR-198	CLIP-seq
MIRT2119912	hsa-miR-212	CLIP-seq
MIRT1399930	hsa-miR-3924	CLIP-seq
MIRT2119913	hsa-miR-4261	CLIP-seq
MIRT1399934	hsa-miR-4435	CLIP-seq
MIRT1399935	hsa-miR-4525	CLIP-seq
MIRT2119914	hsa-miR-455-3p	CLIP-seq
MIRT2119915	hsa-miR-4663	CLIP-seq
MIRT1399938	hsa-miR-4665-5p	CLIP-seq
MIRT2119916	hsa-miR-4690-3p	CLIP-seq
MIRT1399942	hsa-miR-4723-5p	CLIP-seq
MIRT2119917	hsa-miR-4728-3p	CLIP-seq
MIRT1399945	hsa-miR-4803	CLIP-seq
MIRT1399946	hsa-miR-520a-5p	CLIP-seq
MIRT1399947	hsa-miR-525-5p	CLIP-seq
MIRT2119918	hsa-miR-545	CLIP-seq
MIRT2119919	hsa-miR-548p	CLIP-seq
MIRT1399950	hsa-miR-625	CLIP-seq
MIRT1399951	hsa-miR-873	CLIP-seq
MIRT1399952	hsa-miR-922	CLIP-seq
MIRT1399921	hsa-miR-1275	CLIP-seq
MIRT2119911	hsa-miR-132	CLIP-seq
MIRT1399925	hsa-miR-198	CLIP-seq
MIRT2119912	hsa-miR-212	CLIP-seq
MIRT2119913	hsa-miR-4261	CLIP-seq
MIRT1399932	hsa-miR-4271	CLIP-seq
MIRT1399935	hsa-miR-4525	CLIP-seq
MIRT2119914	hsa-miR-455-3p	CLIP-seq
MIRT2119915	hsa-miR-4663	CLIP-seq
MIRT1399938	hsa-miR-4665-5p	CLIP-seq
MIRT2119916	hsa-miR-4690-3p	CLIP-seq
MIRT1399942	hsa-miR-4723-5p	CLIP-seq
MIRT1399943	hsa-miR-4725-3p	CLIP-seq
MIRT2119917	hsa-miR-4728-3p	CLIP-seq
MIRT1399946	hsa-miR-520a-5p	CLIP-seq
MIRT1399947	hsa-miR-525-5p	CLIP-seq
MIRT2119918	hsa-miR-545	CLIP-seq
MIRT2119919	hsa-miR-548p	CLIP-seq
MIRT1399950	hsa-miR-625	CLIP-seq
MIRT1399952	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IDA	12150907, 16275660, 16307917
GO:0000209	Process	Protein polyubiquitination	IBA	21873635
GO:0000209	Process	Protein polyubiquitination	IDA	15781469, 16275660
GO:0000209	Process	Protein polyubiquitination	IMP	19713937
GO:0001664	Function	G protein-coupled receptor binding	IPI	12150907
GO:0002931	Process	Response to ischemia	ISS
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	15466472
GO:0004842	Function	Ubiquitin-protein transferase activity	IMP	19713937
GO:0004842	Function	Ubiquitin-protein transferase activity	TAS	16307917
GO:0005515	Function	Protein binding	IPI	11146632, 15781469, 16207813, 16275660, 16293251, 16307917, 16809764, 19423554, 19875381, 20029029, 20588253, 20618441, 21044950, 21360678, 22190034, 22366786, 23431407, 23973223, 24510904, 24613385, 24658140, 24981860, 25036637, 25260751, 25277244, 25416956, 26496610, 26871637, 273
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	10330192, 16831871
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	12150907
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IGI	18292230
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IMP	19713937, 23990462
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	ISS	18292230
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IBA	21873635
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IDA	16831871
GO:0016567	Process	Protein ubiquitination	IDA	14610072, 16809764
GO:0016567	Process	Protein ubiquitination	IMP	16809764, 29883609
GO:0019899	Function	Enzyme binding	IPI	16280320
GO:0019900	Function	Kinase binding	IPI	17512523
GO:0030018	Component	Z disc	IBA	21873635
GO:0030433	Process	Ubiquitin-dependent ERAD pathway	IMP	23990462
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IMP	24613385
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	TAS
GO:0030544	Function	Hsp70 protein binding	IDA	10330192, 23990462
GO:0030544	Function	Hsp70 protein binding	IPI	24613385
GO:0030579	Process	Ubiquitin-dependent SMAD protein catabolic process	IDA	15781469
GO:0030674	Function	Protein-macromolecule adaptor activity	TAS	16307917
GO:0030911	Function	TPR domain binding	IDA	11146632
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IEA
GO:0031072	Function	Heat shock protein binding	IPI	16207813
GO:0031371	Component	Ubiquitin conjugating enzyme complex	TAS	16307917
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	11146632, 16831871
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	12150907
GO:0031647	Process	Regulation of protein stability	IDA	16809764
GO:0031943	Process	Regulation of glucocorticoid metabolic process	IDA	11146632
GO:0032091	Process	Negative regulation of protein binding	IEA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	11146632
GO:0034450	Function	Ubiquitin-ubiquitin ligase activity	ISS
GO:0034605	Process	Cellular response to heat	ISS
GO:0038128	Process	ERBB2 signaling pathway	TAS
GO:0042405	Component	Nuclear inclusion body	IDA	16831871
GO:0042803	Function	Protein homodimerization activity	IDA	23990462
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	15781469, 24613385
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	29883609
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	TAS	19953350
GO:0045862	Process	Positive regulation of proteolysis	IBA	21873635
GO:0046332	Function	SMAD binding	IDA	15781469
GO:0046332	Function	SMAD binding	IPI	24613385
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0051087	Function	Chaperone binding	IBA	21873635
GO:0051087	Function	Chaperone binding	IPI	16207813
GO:0051443	Process	Positive regulation of ubiquitin-protein transferase activity	IEA
GO:0051604	Process	Protein maturation	TAS	16307917
GO:0051787	Function	Misfolded protein binding	IDA	16831871
GO:0051865	Process	Protein autoubiquitination	IDA	16307917, 18042044
GO:0051879	Function	Hsp90 protein binding	IDA	11146632
GO:0061630	Function	Ubiquitin protein ligase activity	IBA	21873635
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	14610072, 16275660, 16809764, 19103148, 24613385
GO:0061630	Function	Ubiquitin protein ligase activity	IGI	16207813
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	16809764, 23990462
GO:0061630	Function	Ubiquitin protein ligase activity	TAS
GO:0061684	Process	Chaperone-mediated autophagy	IEA
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	16307917
GO:0071218	Process	Cellular response to misfolded protein	IBA	21873635
GO:0071218	Process	Cellular response to misfolded protein	IDA	16831871
GO:0071456	Process	Cellular response to hypoxia	ISS
GO:0090035	Process	Positive regulation of chaperone-mediated protein complex assembly	IDA	16831871
GO:0101031	Component	Chaperone complex	IPI	16207813

Other IDs

• MIM: 607207
• HGNC: 11427
• e!Ensembl: ENSG00000103266

Protein

• UniProt ID: Q9UNE7
• Protein name: E3 ubiquitin-protein ligase CHIP (EC 2.3.2.27) (Antigen NY-CO-7) (CLL-associated antigen KW-8) (Carboxy terminus of Hsp70-interacting protein) (RING-type E3 ubiquitin transferase CHIP) (STIP1 homology and U box-containing protein 1)
• Protein function: E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation (PubMed:10330192, PubMed:11146632, PubMed:11557750, PubMed:23990462, PubMed:26265139). Plays a role in the maintenance of mitochondrial morp
• PDB: 4KBQ, 6EFK, 6NSV, 7TB1, 8EHZ, 8EI0, 8F14, 8F15, 8F16, 8F17, 8FYU, 8GCK, 8SUV, 9DRY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12895	ANAPC3	39 → 120		Domain
  PF18391	CHIP_TPR_N	142 → 225	CHIP N-terminal tetratricopeptide repeat domain	Domain
  PF04564	U-box	227 → 299	U-box domain	Domain

• Sequence:

  MKGKEEKEGGARLGAGGGSPEKSPSAQELKEQGNRLFVGRKYPEAAACYGRAITRNPLVA
  VYYTNRALCYLKMQQHEQALADCRRALELDGQSVKAHFFLGQCQLEMESYDEAIANLQRA
  YSLAKEQRLNFGDDIPSALRIAKKKRWNSIEERRIHQESELHSYLSRLIAAERERELEEC
  QRNHEGDEDDSHVRAQQACIEAKHDKYMADMDELFSQVDEKRKKRDIPDYLCGKISFELM
  REPCITPSGITYDRKDIEEHLQRVGHFDPVTRSPLTQEQLIPNLAMKEVIDAFISENGWV
  EDY

• Sequence length: 303

Pathways

KEGG:

Ubiquitin mediated proteolysis
Protein processing in endoplasmic reticulum

Reactome:

Downregulation of TGF-beta receptor signaling
Downregulation of ERBB2 signaling
Regulation of RUNX2 expression and activity
Regulation of PTEN stability and activity
Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Apraxia	Apraxia of Phonation	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Spinocerebellar ataxia	Ataxia, Spinocerebellar, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 6 (disorder), Spinocerebellar Ataxia Type 7, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	24742043, 30381368, 25258038, 24312598, 24719489, 24113144
Cerebellar ataxia	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
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
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Nystagmus	Nystagmus, End-Position	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Anxiety disorder	Anxiety
Arachnodactyly	Arachnodactyly
Atrophy of corpus callosum	Atrophy of corpus callosum
Cerebellar atrophy	Cerebellar atrophy
Cerebellar hypoplasia	Cerebellar Hypoplasia
Delayed menarche	Delayed menarche
Distal amyotrophy	Distal amyotrophy	rs1457770815
Dysarthria	Dysarthria
Dysphagia	Deglutition Disorders
Horizontal nystagmus	Horizontal Nystagmus
Hypogonadism	Hypogonadism
Iridocyclitis	Iridocyclitis
Oculomotor apraxia	Oculomotor apraxia
Oculovestibuloauditory syndrome	Oculovestibuloauditory syndrome
Pancreatitis	Pancreatitis	rs61734659
Physiologic amenorrhea	Primary physiologic amenorrhea