JPH1 (junctophilin 1)

Gene

• Entrez ID: 56704
• Gene name: Junctophilin 1
• Gene symbol: JPH1
• Synonyms (NCBI Gene): CMT2K, CMYO25, JP-1, JP1
• Disease Acronyms (UniProt): CMT2K, CMYO25
• Chromosome: 8
• Chromosome location: 8q21.11
• Summary: Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a comp

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201314759	C>G,T	Risk-factor, benign	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025712	hsa-miR-7-5p	Sequencing	20371350
MIRT030841	hsa-miR-21-5p	Microarray	18591254
MIRT048673	hsa-miR-99a-5p	CLASH	23622248
MIRT048572	hsa-miR-100-5p	CLASH	23622248
MIRT718022	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT718021	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT718020	hsa-miR-330-3p	HITS-CLIP	19536157
MIRT718019	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT718018	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT718017	hsa-miR-4751	HITS-CLIP	19536157
MIRT718022	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT718021	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT718020	hsa-miR-330-3p	HITS-CLIP	19536157
MIRT718019	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT718018	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT718017	hsa-miR-4751	HITS-CLIP	19536157
MIRT718022	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT718021	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT718020	hsa-miR-330-3p	HITS-CLIP	19536157
MIRT718019	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT718018	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT718017	hsa-miR-4751	HITS-CLIP	19536157
MIRT718022	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT718021	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT718020	hsa-miR-330-3p	HITS-CLIP	19536157
MIRT718019	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT718018	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT718017	hsa-miR-4751	HITS-CLIP	19536157
MIRT1077473	hsa-miR-150	CLIP-seq
MIRT1077474	hsa-miR-15a	CLIP-seq
MIRT1077475	hsa-miR-15b	CLIP-seq
MIRT1077476	hsa-miR-16	CLIP-seq
MIRT1077477	hsa-miR-195	CLIP-seq
MIRT1077478	hsa-miR-2117	CLIP-seq
MIRT1077479	hsa-miR-214	CLIP-seq
MIRT1077480	hsa-miR-331-3p	CLIP-seq
MIRT1077481	hsa-miR-3607-5p	CLIP-seq
MIRT1077482	hsa-miR-3619-5p	CLIP-seq
MIRT1077483	hsa-miR-3646	CLIP-seq
MIRT1077484	hsa-miR-3675-5p	CLIP-seq
MIRT1077485	hsa-miR-3714	CLIP-seq
MIRT1077486	hsa-miR-3977	CLIP-seq
MIRT1077487	hsa-miR-424	CLIP-seq
MIRT1077488	hsa-miR-4282	CLIP-seq
MIRT1077489	hsa-miR-4283	CLIP-seq
MIRT1077490	hsa-miR-4291	CLIP-seq
MIRT1077491	hsa-miR-4307	CLIP-seq
MIRT1077492	hsa-miR-4422	CLIP-seq
MIRT1077493	hsa-miR-4477a	CLIP-seq
MIRT1077494	hsa-miR-4480	CLIP-seq
MIRT1077495	hsa-miR-4489	CLIP-seq
MIRT1077496	hsa-miR-4511	CLIP-seq
MIRT1077497	hsa-miR-4534	CLIP-seq
MIRT1077498	hsa-miR-4659a-3p	CLIP-seq
MIRT1077499	hsa-miR-4659b-3p	CLIP-seq
MIRT1077500	hsa-miR-4662a-5p	CLIP-seq
MIRT1077501	hsa-miR-4713-5p	CLIP-seq
MIRT1077502	hsa-miR-4768-3p	CLIP-seq
MIRT1077503	hsa-miR-4768-5p	CLIP-seq
MIRT1077504	hsa-miR-4771	CLIP-seq
MIRT1077505	hsa-miR-497	CLIP-seq
MIRT1077506	hsa-miR-499a-5p	CLIP-seq
MIRT1077507	hsa-miR-513a-3p	CLIP-seq
MIRT1077508	hsa-miR-532-3p	CLIP-seq
MIRT1077509	hsa-miR-543	CLIP-seq
MIRT1077510	hsa-miR-548an	CLIP-seq
MIRT1077511	hsa-miR-548n	CLIP-seq
MIRT1077512	hsa-miR-548t	CLIP-seq
MIRT1077513	hsa-miR-617	CLIP-seq
MIRT1077514	hsa-miR-626	CLIP-seq
MIRT1077515	hsa-miR-665	CLIP-seq
MIRT1077516	hsa-miR-761	CLIP-seq
MIRT1077517	hsa-miR-922	CLIP-seq
MIRT2019248	hsa-miR-1248	CLIP-seq
MIRT2019249	hsa-miR-302a	CLIP-seq
MIRT2019250	hsa-miR-302b	CLIP-seq
MIRT2019251	hsa-miR-302c	CLIP-seq
MIRT2019252	hsa-miR-302d	CLIP-seq
MIRT2019253	hsa-miR-302e	CLIP-seq
MIRT2019254	hsa-miR-372	CLIP-seq
MIRT2019255	hsa-miR-373	CLIP-seq
MIRT1077488	hsa-miR-4282	CLIP-seq
MIRT2019256	hsa-miR-4297	CLIP-seq
MIRT1077498	hsa-miR-4659a-3p	CLIP-seq
MIRT1077499	hsa-miR-4659b-3p	CLIP-seq
MIRT2019257	hsa-miR-4727-5p	CLIP-seq
MIRT2019258	hsa-miR-4753-3p	CLIP-seq
MIRT2019259	hsa-miR-4778-3p	CLIP-seq
MIRT2019260	hsa-miR-519a	CLIP-seq
MIRT2019261	hsa-miR-519b-3p	CLIP-seq
MIRT2019262	hsa-miR-519c-3p	CLIP-seq
MIRT2019263	hsa-miR-520a-3p	CLIP-seq
MIRT2019264	hsa-miR-520b	CLIP-seq
MIRT2019265	hsa-miR-520c-3p	CLIP-seq
MIRT2019266	hsa-miR-520d-3p	CLIP-seq
MIRT2019267	hsa-miR-520e	CLIP-seq
MIRT2019268	hsa-miR-544	CLIP-seq
MIRT2251108	hsa-miR-10a	CLIP-seq
MIRT2251109	hsa-miR-10b	CLIP-seq
MIRT2251110	hsa-miR-1205	CLIP-seq
MIRT2251111	hsa-miR-1238	CLIP-seq
MIRT2251112	hsa-miR-125a-3p	CLIP-seq
MIRT2251113	hsa-miR-137	CLIP-seq
MIRT2251114	hsa-miR-147	CLIP-seq
MIRT2251115	hsa-miR-1910	CLIP-seq
MIRT2251116	hsa-miR-219-2-3p	CLIP-seq
MIRT2251117	hsa-miR-2278	CLIP-seq
MIRT2251118	hsa-miR-3120-3p	CLIP-seq
MIRT2251119	hsa-miR-323-3p	CLIP-seq
MIRT1077481	hsa-miR-3607-5p	CLIP-seq
MIRT2251120	hsa-miR-3611	CLIP-seq
MIRT1077483	hsa-miR-3646	CLIP-seq
MIRT2251121	hsa-miR-3662	CLIP-seq
MIRT2251122	hsa-miR-3665	CLIP-seq
MIRT2251123	hsa-miR-409-3p	CLIP-seq
MIRT2251124	hsa-miR-4264	CLIP-seq
MIRT2251125	hsa-miR-4426	CLIP-seq
MIRT2251126	hsa-miR-4432	CLIP-seq
MIRT2251127	hsa-miR-4463	CLIP-seq
MIRT2251128	hsa-miR-4468	CLIP-seq
MIRT1077493	hsa-miR-4477a	CLIP-seq
MIRT2251129	hsa-miR-4504	CLIP-seq
MIRT2251130	hsa-miR-4528	CLIP-seq
MIRT2251131	hsa-miR-455-3p	CLIP-seq
MIRT2251132	hsa-miR-4647	CLIP-seq
MIRT2251133	hsa-miR-4662b	CLIP-seq
MIRT2251134	hsa-miR-4698	CLIP-seq
MIRT1077504	hsa-miR-4771	CLIP-seq
MIRT2251135	hsa-miR-4797-5p	CLIP-seq
MIRT2251136	hsa-miR-499-5p	CLIP-seq
MIRT1077506	hsa-miR-499a-5p	CLIP-seq
MIRT2251137	hsa-miR-517a	CLIP-seq
MIRT2251138	hsa-miR-517b	CLIP-seq
MIRT2251139	hsa-miR-517c	CLIP-seq
MIRT2251140	hsa-miR-548a-3p	CLIP-seq
MIRT2251141	hsa-miR-548e	CLIP-seq
MIRT2251142	hsa-miR-548f	CLIP-seq
MIRT2251143	hsa-miR-548g	CLIP-seq
MIRT2251144	hsa-miR-548p	CLIP-seq
MIRT2251145	hsa-miR-570	CLIP-seq
MIRT2251146	hsa-miR-582-5p	CLIP-seq
MIRT1077514	hsa-miR-626	CLIP-seq
MIRT2251147	hsa-miR-657	CLIP-seq
MIRT2251148	hsa-miR-660	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0007517	Process	Muscle organ development	IEA
GO:0008307	Function	Structural constituent of muscle	IEA
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	TAS	19095005
GO:0016021	Component	Integral component of membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IBA	21873635
GO:0030018	Component	Z disc	IEA
GO:0030314	Component	Junctional membrane complex	IBA	21873635
GO:0030314	Component	Junctional membrane complex	NAS	10891348
GO:0060314	Process	Regulation of ryanodine-sensitive calcium-release channel activity	TAS	19095005
GO:0060402	Process	Calcium ion transport into cytosol	TAS	19095005

Other IDs

• MIM: 605266
• HGNC: 14201
• e!Ensembl: ENSG00000104369

Protein

• UniProt ID: Q9HDC5
• Protein name: Junctophilin-1 (JP-1) (Junctophilin type 1)
• Protein function: Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk betwee
• PDB: 7RW4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02493	MORN	14 → 36	MORN repeat	Repeat
  PF02493	MORN	38 → 59	MORN repeat	Repeat
  PF02493	MORN	60 → 80	MORN repeat	Repeat
  PF02493	MORN	82 → 99	MORN repeat	Repeat
  PF02493	MORN	106 → 128	MORN repeat	Repeat
  PF02493	MORN	129 → 151	MORN repeat	Repeat
  PF02493	MORN	281 → 303	MORN repeat	Repeat
  PF02493	MORN	304 → 326	MORN repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Abundantly expressed in skeletal muscle. Very low levels in heart. {ECO:0000269|PubMed:10891348}.
• Sequence:

  MTGGRFDFDDGGTYCGGWEEGKAHGHGICTGPKGQGEYSGSWSHGFEVVGGYTWPSGNTY
  QGYWAQGKRHGLGVETKGKWMYRGEWSHGFKGRYGVRQSLCTPARYEGTWSNGLQDGYGV
  ETYGDGGTYQGQWAGGMRHGYGVRQSVPYGMATVIRSPLRTSLASLRSEQSNGSVLHDAA
  AAADSPAGTRGGFVLNFHADAELAGKKKGGLFRRGSLLGSMKLRKSESKSSISSKRSSVR
  SDAAMSRISSSDANSTISFGDVDCDFCPVEDHVDATTTETYMGEWKNDKRNGFGVSERSN
  GMKYEGEWANNKRHGYGCTVFPDGSKEEGKYKNNILVRGIRKQLIPIRHTKTREKVDRAI
  EGAQRAAAMARTKVEIANSRTAHARAKADAADQAALAARQECDIARAVARELSPDFYQPG
  PDYVKQRFQEGVDAKENPEEKVPEKPPTPKESPHFYRKGTTPPRSPEASPKHSHSPASSP
  KPLKKQNPSSGARLNQDKRSVADEQVTAIVNKPLMSKAPTKEAGAVVPQSKYSGRHHIPN
  PSNGELHSQYHGYYVKLNAPQHPPVDVEDGDGSSQSSSALVHKPSANKWSPSKSVTKPVA
  KESKAEPKAKKSELAIPKNPASNDSCPALEKEANSGPNSIMIVLVMLLNIGLAILFVHFL
  T

• Sequence length: 661

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Charcot-marie-tooth disease	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K	rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295, rs28940296, rs119103261, rs119103262, rs119103263, rs119103265, rs119103266, rs119103267, rs119103268, rs80338924, rs80338932, rs80338933, rs80338934, rs104894351, rs104894345, rs120074137, rs120074138, rs120074139, rs104894075, rs104894076, rs104894077, rs28937906, rs104894078, rs104894079, rs104894080, rs121908114, rs587777608, rs758843908, rs137852972, rs137852973, rs137852975, rs121908160, rs104894714, rs104894715, rs104894706, rs104894707, rs104894708, rs119482081, rs119482083, rs119482082, rs121912632, rs121912633, rs77975504, rs121912637, rs267607143, rs267607144, rs267607145, rs267607146, rs119483085, rs113994102, rs606231157, rs606231158, rs104894519, rs104894520, rs104894521, rs104894522, rs111033171, rs137853022, rs28939712, rs121908833, rs121908834, rs786200893, rs121434402, rs121434403, rs121434404, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs267606772, rs121909078, rs121909079, rs28939680, rs29001571, rs28937568, rs28937569, rs28939681, rs104894020, rs121909112, rs267607194, rs587776688, rs104894617, rs104894618, rs104894620, rs104894621, rs104894622, rs104894623, rs80338763, rs104894626, rs104894627, rs28936682, rs104894625, rs267606621, rs137852665, rs137852666, rs786205089, rs137852669, rs137852643, rs137852644, rs137852646, rs199476138, rs80338732, rs104894810, rs104894811, rs104894812, rs104894814, rs104894818, rs104894819, rs104894821, rs104894822, rs104894824, rs267606672, rs28933979, rs121918070, rs121918071, rs76992529, rs59443585, rs28928910, rs60261494, rs62636505, rs121913663, rs121913583, rs121913584, rs121913585, rs121913586, rs2102257349, rs121913587, rs121913588, rs121913589, rs121913590, rs121913594, rs121913595, rs121913596, rs121913597, rs121913598, rs121913599, rs121913601, rs121913602, rs121913603, rs1558154193, rs58932704, rs57520892, rs28933091, rs28933092, rs60864230, rs57920071, rs61282106, rs61672878, rs58596362, rs28933093, rs58048078, rs121912496, rs60458016, rs121909721, rs121909723, rs121909724, rs104894159, rs104894161, rs121434563, rs267607148, rs267607149, rs387906324, rs116840818, rs116840819, rs116840815, rs116840822, rs116840821, rs137852736, rs137852738, rs80338922, rs80338925, rs80338926, rs80338929, rs80338931, rs80338936, rs80338937, rs80338921, rs267607243, rs199473690, rs199422214, rs387906738, rs606231229, rs387906902, rs387906904, rs387906905, rs1555365597, rs387906990, rs387906991, rs387907032, rs786200930, rs387907035, rs387907036, rs387907037, rs387907038, rs387907242, rs386134243, rs267607578, rs147952488, rs267607261, rs267607263, rs267607257, rs267607258, rs281865060, rs63749871, rs397514494, rs397514534, rs606231237, rs397515432, rs281865136, rs281865137, rs281865121, rs281865123, rs281865124, rs281865125, rs281865128, rs267607247, rs281865134, rs281865135, rs58982919, rs1564287793, rs387907340, rs387907341, rs397517888, rs397517889, rs57508089, rs58013325, rs56984562, rs267607646, rs58917027, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397515441, rs397515442, rs786200937, rs587776986, rs397509411, rs397509412, rs397515454, rs397515455, rs61295588, rs62636503, rs61491953, rs58332872, rs267607555, rs267607644, rs267607617, rs267607567, rs267607634, rs267607575, rs267607590, rs267607545, rs57983345, rs267607620, rs267607618, rs267607577, rs58541611, rs267607637, rs267607598, rs267607638, rs267607597, rs267607599, rs267607550, rs267607552, rs58100028, rs57629361, rs267607592, rs267607581, rs61444459, rs56793579, rs59270054, rs59040894, rs267607569, rs60652225, rs61661343, rs267607570, rs267607542, rs59026483, rs267607571, rs80356807, rs267607584, rs267607609, rs57207746, rs267607587, rs58327533, rs59332535, rs61578124, rs267607632, rs59914820, rs267607591, rs59684335, rs267607645, rs60872029, rs267607614, rs59301204, rs587777063, rs587777838, rs515726153, rs515726154, rs515726162, rs587780564, rs587777606, rs587777877, rs587777878, rs587777876, rs587777875, rs587777880, rs587777715, rs199927590, rs587781250, rs587783595, rs587783596, rs587783597, rs587783598, rs713993043, rs372000714, rs724159994, rs724159959, rs111569862, rs730882139, rs730882140, rs781140315, rs786204003, rs786204215, rs786204119, rs786204095, rs786204123, rs786205157, rs786205207, rs191346286, rs794727035, rs756928158, rs797044758, rs794728598, rs794728604, rs794728589, rs794728597, rs794728606, rs794728593, rs794728610, rs267607623, rs1553265865, rs794728613, rs794729198, rs756880678, rs797044802, rs797044803, rs796052862, rs797044845, rs797045102, rs797044941, rs797044913, rs797044901, rs797044918, rs797045177, rs797045039, rs863224069, rs863224074, rs777604559, rs782490558, rs782190413, rs863224842, rs863224449, rs863224520, rs863224454, rs863224781, rs776221160, rs863224516, rs863224472, rs863224613, rs779696968, rs863224471, rs863224969, rs863224970, rs863224967, rs863224968, rs863225025, rs371856018, rs770546306, rs377357931, rs863225022, rs863225023, rs745663149, rs863225029, rs863225028, rs863225027, rs754521978, rs863224971, rs863224974, rs863224972, rs863224973, rs139643362, rs746581714, rs780594709, rs143473232, rs863225122, rs863225123, rs863225124, rs756614404, rs782726390, rs864309500, rs864309501, rs864309502, rs864309503, rs864309504, rs864309526, rs864309525, rs864309709, rs864309705, rs864622480, rs864622732, rs864622664, rs370115218, rs864622663, rs770272088, rs864622501, rs864622273, rs864622678, rs864622180, rs864622215, rs876657411, rs876657412, rs749850181, rs876661208, rs145226920, rs775019409, rs876661252, rs876661269, rs28933090, rs878855234, rs878855092, rs138226428, rs757563721, rs1057519023, rs879253751, rs879253752, rs1057519024, rs765591205, rs879253755, rs879253777, rs879253861, rs763492075, rs879253863, rs879253859, rs879253869, rs879253858, rs879253957, rs879254011, rs879253939, rs879253932, rs879254081, rs879254054, rs879254109, rs760730366, rs879253926, rs747768373, rs879254290, rs879253927, rs770501034, rs201060167, rs368775789, rs879254085, rs879253881, rs757725348, rs879253954, rs121909093, rs879254086, rs773009397, rs879253919, rs879254047, rs879254012, rs879253935, rs879254096, rs756000896, rs879253946, rs879254098, rs879253909, rs879254099, rs886037934, rs764717219, rs886039361, rs886039755, rs886041051, rs886041386, rs886041200, rs886043109, rs886043774, rs766160589, rs772320287, rs753207473, rs876661155, rs762730861, rs749890533, rs1057517987, rs1057518021, rs774799167, rs267607087, rs1057517942, rs1057518083, rs773690764, rs1057518961, rs80338930, rs375401970, rs104894624, rs1057520778, rs1060501918, rs879254210, rs1060501925, rs1060501920, rs1060501915, rs1060502215, rs1060502210, rs1060502214, rs1060502211, rs1060503423, rs1060503418, rs1060503420, rs1553259651, rs1060502838, rs538412810, rs1060500979, rs1060502839, rs1060503021, rs1060500978, rs1060503092, rs759312530, rs756461496, rs749558026, rs1060499999, rs1555057316, rs1060500001, rs778377449, rs1060501904, rs781347519, rs906563423, rs1060501002, rs1060500998, rs1555937150, rs1060501004, rs1060501000, rs1064794316, rs1064795818, rs886044113, rs749361266, rs750529207, rs776005417, rs770043095, rs1064796370, rs1064795077, rs1064793771, rs747912710, rs1064795696, rs751035912, rs1064796765, rs1064795664, rs1064793101, rs1064796495, rs1064794244, rs60290646, rs1064797314, rs1085307888, rs749320057, rs772823083, rs1131691980, rs1131691852, rs1131691657, rs1131691322, rs200435950, rs1395068713, rs1553765316, rs1555938796, rs1553265433, rs780302064, rs515726215, rs1247055716, rs1554614680, rs1553259697, rs1429859627, rs764928653, rs1555937009, rs1556300610, rs1556300621, rs572010627, rs759785462, rs1554122541, rs745790694, rs1422978230, rs771606350, rs1555800610, rs1555937020, rs1555937122, rs1555937197, rs1555937233, rs1555937270, rs759844257, rs1458700065, rs1553259663, rs765231758, rs1554122847, rs1323153568, rs773598203, rs1555937180, rs1553141686, rs1553142436, rs1553146559, rs778937659, rs1553261891, rs1553265165, rs1553265660, rs267607557, rs1553259648, rs1553265455, rs1553266024, rs267607588, rs1553259649, rs1553259703, rs1553259511, rs1553259662, rs1463859150, rs1198337036, rs1554121691, rs1064795123, rs1554338260, rs150110356, rs1554337974, rs747659617, rs1554548334, rs1554763017, rs1221804567, rs556827873, rs1554762671, rs760386662, rs1554982914, rs1327664377, rs1555373599, rs1555715869, rs1555936999, rs1555937084, rs1555937135, rs1555937194, rs1555937218, rs1555937015, rs1555937223, rs1553851490, rs753287764, rs774294963, rs991227431, rs1553174566, rs1553265755, rs763937206, rs1555937143, rs1553264668, rs57730570, rs1555381416, rs1555937168, rs113055360, rs1202430946, rs1266361856, rs530391015, rs1553143890, rs1553146551, rs1553142428, rs1064793170, rs1553144086, rs1553261855, rs1553261982, rs1553264593, rs747711259, rs1553143165, rs1553265328, rs1553265342, rs1553265647, rs1553265760, rs1553259566, rs1553259643, rs1407955132, rs1553259683, rs1553259691, rs1553265606, rs1553265924, rs1553259790, rs1222150652, rs773554464, rs1554121665, rs1554122560, rs1554120331, rs1554300952, rs1554303800, rs557327165, rs1554338262, rs1554338641, rs757417962, rs1554754342, rs1554547986, rs1345228128, rs1554753670, rs1554763035, rs779654686, rs1289139464, rs1555060614, rs1555061026, rs1358449243, rs1555223595, rs1555540896, rs1426969421, rs1555568475, rs1301129751, rs1555936989, rs1555937082, rs1241595912, rs1554120215, rs1553190285, rs1553192091, rs1553192086, rs1554107200, rs1553259707, rs1555060024, rs1555542415, rs1385904344, rs104894598, rs1553265736, rs1565929090, rs1000091588, rs1557537223, rs1557522794, rs1557524703, rs1340894696, rs1558133157, rs1017715903, rs1558115754, rs1558115970, rs267607561, rs1558154644, rs1557522849, rs1557525153, rs1557539119, rs1228406418, rs1558133435, rs1558153994, rs1558154754, rs376054085, rs1557525005, rs1557537346, rs1558154010, rs761972717, rs1561764735, rs1561765311, rs763949764, rs766728475, rs1561764925, rs1561770798, rs375431837, rs751448371, rs1270869520, rs770111639, rs751292488, rs1565115957, rs761035569, rs1183978180, rs750712213, rs1554309093, rs746455518, rs1564872328, rs752649372, rs1393673267, rs1565351898, rs749012928, rs866662905, rs1567704791, rs752192677, rs774667470, rs1564923441, rs746903992, rs1569215025, rs1569215351, rs771022595, rs1567019064, rs574861276, rs1569215061, rs1567604571, rs1569215346, rs1568710514, rs1569214985, rs1555937166, rs1564287871, rs1557525000, rs1558154149, rs1567698872, rs757937208, rs1568704829, rs138199394, rs1565869918, rs1565942358, rs1566778676, rs1563518388, rs1563518390, rs1564557037, rs1559961997, rs1559963660, rs1561764569, rs762729182, rs199615251, rs1476856429, rs1567704621, rs763758904, rs1569215443, rs1565342506, rs1571818248, rs140992482, rs1566439723, rs1182353109, rs1561770179, rs1569512576, rs869125101, rs1568708792, rs912928648, rs267607629, rs1572364243, rs1569816285, rs863224068, rs1569829894, rs1569830013, rs1569842143, rs1440006845, rs1569842714, rs1569843694, rs755065651, rs1553143852, rs1569854012, rs1569854342, rs1569868729, rs1569871830, rs375937289, rs1569889919, rs1485714154, rs1571695851, rs764992664, rs756981419, rs764816792, rs1571817146, rs1571817154, rs1571817911, rs1571817966, rs1571818312, rs1571818632, rs1456458087, rs1571818800, rs1571818819, rs1468741050, rs1571819182, rs573007540, rs1571819890, rs1571819906, rs201720099, rs1571819946, rs1571819964, rs1571819975, rs1571820143, rs1180998665, rs1571820186, rs1427063795, rs121909080, rs1580682390, rs1028404937, rs1580889866, rs147895061, rs1174949678, rs757797985, rs1580900758, rs1580901350, rs775740308, rs776090013, rs1197741113, rs1191997383, rs1554337369, rs1301948344, rs1583964560, rs1240900244, rs1583966508, rs778547659, rs1586795216, rs1586803063, rs1586803273, rs1443963090, rs1586804849, rs770658701, rs1586807387, rs1588143215, rs1589080524, rs1303837541, rs199839840, rs1590968942, rs1032796987, rs1595599240, rs1595600898, rs1555408333, rs1595163736, rs1595163851, rs1595164091, rs1594986869, rs1595430425, rs1597597534, rs1555564040, rs1597597678, rs1597597900, rs1597607532, rs11545341, rs1597608057, rs1597608086, rs1597608203, rs1597635540, rs1269225724, rs1599651549, rs1210729449, rs757771239, rs144183238, rs1599656136, rs768074428, rs753857146, rs1599662837, rs1602348530, rs1602348610, rs1602348650, rs1602348658, rs104894817, rs863224612, rs1602348786, rs1602348794, rs1602348801, rs1602348804, rs1602348820, rs1602348897, rs1602348907, rs1602348917, rs1602348981, rs876661143, rs1602349017, rs1602349021, rs1602349066, rs1602349087, rs1602349095, rs1602349112, rs1602349131, rs1602349137, rs1602349248, rs1602349264, rs1602349293, rs1602349302, rs1602349369, rs1602349383, rs1602349451, rs1602349535, rs1602349572, rs1602349603, rs1602349628, rs1602349655, rs1555937259, rs1602349716, rs1602349730, rs1064795540, rs1602349940, rs1590970875, rs1569834500, rs1569861708, rs1571685736, rs748672380, rs1232901259, rs1571818339, rs1571820401, rs143956557, rs1370011538, rs1597607514, rs1597608225, rs1597633171, rs1580917130, rs1569816194, rs1569834720, rs1569842458, rs1569842483, rs764374251, rs1569865516, rs1569882539, rs1572331707, rs1572332235, rs1572358860, rs1572359991, rs59564495, rs1572362885, rs1572363397, rs1448275854, rs1572366412, rs1572366593, rs1572367812, rs1571820100, rs1279417718, rs1580901363, rs1488999396, rs1584034430, rs1174933176, rs1586803187, rs1417699318, rs1588132672, rs775965001, rs1315010600, rs1588144707, rs1590881633, rs1590974596, rs1590997023, rs1592387932, rs1597435337, rs1597435790, rs1597446183, rs1597448762, rs1597597527, rs756689732, rs1599656507, rs1599662669, rs1555938741, rs1602496057, rs1602348726, rs1602349029, rs1602349341, rs1602350012, rs1572359505, rs113610699, rs1365042239, rs1580891465, rs1586446057, rs1580900150, rs1595597572, rs1590971080, rs776757548, rs1171462240, rs1590974546, rs1572359848, rs267607622, rs1580917136, rs1588143112, rs1599656851, rs1602485728, rs145670786, rs1602499659, rs1586807529, rs1599651726, rs2047850664, rs1588216753, rs1569842296, rs1580900473, rs1580907885, rs1583695322, rs936681187, rs1589439508, rs1590076969, rs1595597963, rs1595608413, rs373682811, rs964195568, rs1602510200, rs1602510214, rs863225270, rs1602961831, rs769429967, rs1586128143, rs1562648414, rs1228223508, rs758183257, rs1009209509, rs146342432, rs1580900970, rs1572366216, rs1190163112, rs1599652316, rs1580889913, rs1639043704, rs1639045345, rs1060501921, rs866604005, rs1639197832, rs201165591, rs1649726768, rs1651352665, rs61235244, rs1651736894, rs1670264356, rs1670288801, rs1670288858, rs121909081, rs201692212, rs1714805406, rs1714910248, rs1754097044, rs1319576439, rs1754425732, rs769986219, rs1778167481, rs1855957969, rs766951637, rs150989205, rs747130246, rs1836370529, rs1863944217, rs1413469900, rs201676628, rs1948089932, rs2047931446, rs1906290133, rs1909248652, rs2073510805, rs2079456028, rs1262031967, rs2092542190, rs2092543211, rs1602349045, rs757808220, rs2092546039, rs1639048523, rs267607640, rs1651598289, rs866895236, rs1950619177, rs1586407193, rs1011200048, rs758718584, rs145183196, rs1960348987, rs2079511684, rs1670263519, rs139052887
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137

Unknown
Disease term	Disease name	Evidence	References	Source
Distal amyotrophy	Distal amyotrophy			ClinVar
Congenital myopathy	congenital myopathy 25			GenCC
Uterine Fibroids	Uterine Fibroids			GWAS
Diabetes	Diabetes			GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Charcot Marie Tooth Disease	Associate	26556829
Cholangiocarcinoma	Associate	33725402