DNAJB2 (DnaJ heat shock protein family (Hsp40) member B2)

Gene

• Entrez ID: 3300
• Gene name: DnaJ heat shock protein family (Hsp40) member B2
• Gene symbol: DNAJB2
• Synonyms (NCBI Gene): CMT2T, DSMA5, HMNR5, HSJ-1, HSJ1, HSPF3
• Disease Acronyms (UniProt): CMT2T, HMNR5
• Chromosome: 2
• Chromosome location: 2q35
• Summary: This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and pro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs369661561	A>G	Likely-pathogenic	Splice acceptor variant
rs562669797	T>A	Likely-pathogenic	Splice donor variant
rs730882139	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant
rs730882140	A>G	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs756614404	G>A	Pathogenic, uncertain-significance	Splice donor variant
rs758322672	A>G	Likely-pathogenic	Splice acceptor variant
rs764813110	G>A	Pathogenic	Splice acceptor variant
rs797045039	G>T	Pathogenic	Coding sequence variant, stop gained
rs879253868	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042091	hsa-miR-484	CLASH	23622248
MIRT614188	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT614187	hsa-miR-338-3p	HITS-CLIP	23824327
MIRT614186	hsa-miR-6788-3p	HITS-CLIP	23824327
MIRT614185	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT614188	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT614187	hsa-miR-338-3p	HITS-CLIP	23824327
MIRT614186	hsa-miR-6788-3p	HITS-CLIP	23824327
MIRT614185	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT614188	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT614187	hsa-miR-338-3p	HITS-CLIP	23824327
MIRT614186	hsa-miR-6788-3p	HITS-CLIP	23824327
MIRT614185	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT614188	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT614187	hsa-miR-338-3p	HITS-CLIP	23824327
MIRT614186	hsa-miR-6788-3p	HITS-CLIP	23824327
MIRT614185	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT940172	hsa-miR-1275	CLIP-seq
MIRT940173	hsa-miR-4271	CLIP-seq
MIRT940174	hsa-miR-4525	CLIP-seq
MIRT940175	hsa-miR-4665-5p	CLIP-seq
MIRT940176	hsa-miR-4723-5p	CLIP-seq
MIRT940177	hsa-miR-4725-3p	CLIP-seq
MIRT940178	hsa-miR-4747-5p	CLIP-seq
MIRT940179	hsa-miR-524-3p	CLIP-seq
MIRT940180	hsa-miR-525-3p	CLIP-seq
MIRT940181	hsa-miR-625	CLIP-seq
MIRT940182	hsa-miR-3620	CLIP-seq
MIRT940183	hsa-miR-3656	CLIP-seq
MIRT940184	hsa-miR-378g	CLIP-seq
MIRT940185	hsa-miR-4292	CLIP-seq
MIRT940186	hsa-miR-4432	CLIP-seq
MIRT940187	hsa-miR-4438	CLIP-seq
MIRT940188	hsa-miR-4693-3p	CLIP-seq
MIRT940189	hsa-miR-4732-3p	CLIP-seq
MIRT940190	hsa-miR-499-5p	CLIP-seq
MIRT1978039	hsa-miR-1202	CLIP-seq
MIRT1978040	hsa-miR-1283	CLIP-seq
MIRT1978041	hsa-miR-146b-3p	CLIP-seq
MIRT1978042	hsa-miR-1913	CLIP-seq
MIRT1978043	hsa-miR-1915	CLIP-seq
MIRT1978044	hsa-miR-205	CLIP-seq
MIRT1978045	hsa-miR-2277-5p	CLIP-seq
MIRT1978046	hsa-miR-3173-5p	CLIP-seq
MIRT1978047	hsa-miR-3194-3p	CLIP-seq
MIRT1978048	hsa-miR-3194-5p	CLIP-seq
MIRT1978049	hsa-miR-324-3p	CLIP-seq
MIRT1978050	hsa-miR-3972	CLIP-seq
MIRT1978051	hsa-miR-4283	CLIP-seq
MIRT940185	hsa-miR-4292	CLIP-seq
MIRT1978052	hsa-miR-4479	CLIP-seq
MIRT1978053	hsa-miR-4489	CLIP-seq
MIRT1978054	hsa-miR-451b	CLIP-seq
MIRT1978055	hsa-miR-4696	CLIP-seq
MIRT1978056	hsa-miR-4726-3p	CLIP-seq
MIRT1978057	hsa-miR-621	CLIP-seq
MIRT1978058	hsa-miR-760	CLIP-seq
MIRT1978059	hsa-miR-764	CLIP-seq
MIRT1978060	hsa-miR-874	CLIP-seq
MIRT1978061	hsa-miR-941	CLIP-seq
MIRT2213558	hsa-miR-29a	CLIP-seq
MIRT2213559	hsa-miR-29b	CLIP-seq
MIRT2213560	hsa-miR-29c	CLIP-seq
MIRT2213561	hsa-miR-3065-3p	CLIP-seq
MIRT1978048	hsa-miR-3194-5p	CLIP-seq
MIRT1978048	hsa-miR-3194-5p	CLIP-seq
MIRT2386959	hsa-miR-186	CLIP-seq
MIRT2386960	hsa-miR-3978	CLIP-seq
MIRT2386961	hsa-miR-4679	CLIP-seq
MIRT2386962	hsa-miR-4781-3p	CLIP-seq
MIRT1978039	hsa-miR-1202	CLIP-seq
MIRT2517336	hsa-miR-1207-5p	CLIP-seq
MIRT2517337	hsa-miR-1249	CLIP-seq
MIRT2517338	hsa-miR-1321	CLIP-seq
MIRT2517339	hsa-miR-1343	CLIP-seq
MIRT2517340	hsa-miR-1827	CLIP-seq
MIRT2517341	hsa-miR-2355-5p	CLIP-seq
MIRT2517342	hsa-miR-2682	CLIP-seq
MIRT2517343	hsa-miR-3150b-3p	CLIP-seq
MIRT1978048	hsa-miR-3194-5p	CLIP-seq
MIRT940184	hsa-miR-378g	CLIP-seq
MIRT1978050	hsa-miR-3972	CLIP-seq
MIRT2517344	hsa-miR-4252	CLIP-seq
MIRT2517345	hsa-miR-4270	CLIP-seq
MIRT940185	hsa-miR-4292	CLIP-seq
MIRT2517346	hsa-miR-4308	CLIP-seq
MIRT2517347	hsa-miR-4326	CLIP-seq
MIRT2517348	hsa-miR-4437	CLIP-seq
MIRT2517349	hsa-miR-4441	CLIP-seq
MIRT2517350	hsa-miR-449c	CLIP-seq
MIRT2517351	hsa-miR-4514	CLIP-seq
MIRT2517352	hsa-miR-4645-5p	CLIP-seq
MIRT2517353	hsa-miR-4673	CLIP-seq
MIRT2517354	hsa-miR-4674	CLIP-seq
MIRT2517355	hsa-miR-4692	CLIP-seq
MIRT2517356	hsa-miR-4701-5p	CLIP-seq
MIRT2517357	hsa-miR-4722-3p	CLIP-seq
MIRT2517358	hsa-miR-4739	CLIP-seq
MIRT2517359	hsa-miR-4756-5p	CLIP-seq
MIRT2517360	hsa-miR-4763-3p	CLIP-seq
MIRT2517361	hsa-miR-4784	CLIP-seq
MIRT2517362	hsa-miR-588	CLIP-seq
MIRT2517363	hsa-miR-765	CLIP-seq
MIRT2517364	hsa-miR-940	CLIP-seq
MIRT2517336	hsa-miR-1207-5p	CLIP-seq
MIRT2517338	hsa-miR-1321	CLIP-seq
MIRT2517340	hsa-miR-1827	CLIP-seq
MIRT2517341	hsa-miR-2355-5p	CLIP-seq
MIRT2517342	hsa-miR-2682	CLIP-seq
MIRT2517343	hsa-miR-3150b-3p	CLIP-seq
MIRT940184	hsa-miR-378g	CLIP-seq
MIRT2517344	hsa-miR-4252	CLIP-seq
MIRT2517345	hsa-miR-4270	CLIP-seq
MIRT940185	hsa-miR-4292	CLIP-seq
MIRT2517346	hsa-miR-4308	CLIP-seq
MIRT2517348	hsa-miR-4437	CLIP-seq
MIRT2517349	hsa-miR-4441	CLIP-seq
MIRT2517350	hsa-miR-449c	CLIP-seq
MIRT2517351	hsa-miR-4514	CLIP-seq
MIRT2517352	hsa-miR-4645-5p	CLIP-seq
MIRT2517353	hsa-miR-4673	CLIP-seq
MIRT2517354	hsa-miR-4674	CLIP-seq
MIRT2517355	hsa-miR-4692	CLIP-seq
MIRT2517356	hsa-miR-4701-5p	CLIP-seq
MIRT2517358	hsa-miR-4739	CLIP-seq
MIRT2517359	hsa-miR-4756-5p	CLIP-seq
MIRT2517360	hsa-miR-4763-3p	CLIP-seq
MIRT2517361	hsa-miR-4784	CLIP-seq
MIRT2517362	hsa-miR-588	CLIP-seq
MIRT2517363	hsa-miR-765	CLIP-seq
MIRT2517364	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IBA	21873635
GO:0001671	Function	ATPase activator activity	IBA	21873635
GO:0001671	Function	ATPase activator activity	IDA	7957263, 22219199
GO:0005515	Function	Protein binding	IPI	21625540
GO:0005634	Component	Nucleus	IDA	21231916
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA	21231916
GO:0006986	Process	Response to unfolded protein	TAS	1599432
GO:0008285	Process	Negative regulation of cell population proliferation	IGI	9553041
GO:0030308	Process	Negative regulation of cell growth	IGI	9553041
GO:0030433	Process	Ubiquitin-dependent ERAD pathway	IBA	21873635
GO:0030544	Function	Hsp70 protein binding	IBA	21873635
GO:0030544	Function	Hsp70 protein binding	IPI	22219199
GO:0031227	Component	Intrinsic component of endoplasmic reticulum membrane	IBA	21873635
GO:0031396	Process	Regulation of protein ubiquitination	IMP	24023695
GO:0031965	Component	Nuclear membrane	IDA
GO:0032091	Process	Negative regulation of protein binding	IDA	7957263
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	TAS	28031292
GO:0032781	Process	Positive regulation of ATPase activity	IDA	7957263, 22219199
GO:0042026	Process	Protein refolding	IBA	21873635
GO:0042026	Process	Protein refolding	IDA	21231916
GO:0043130	Function	Ubiquitin binding	IDA	28031292
GO:0051082	Function	Unfolded protein binding	IBA	21873635
GO:0051082	Function	Unfolded protein binding	IDA	21231916, 24023695
GO:0051087	Function	Chaperone binding	IBA	21873635
GO:0051087	Function	Chaperone binding	IPI	21231916
GO:0061077	Process	Chaperone-mediated protein folding	IBA	21873635
GO:0061077	Process	Chaperone-mediated protein folding	IMP	24023695
GO:0070050	Process	Neuron cellular homeostasis	TAS	28031292
GO:0090084	Process	Negative regulation of inclusion body assembly	IDA	21231916
GO:0140036	Function	Ubiquitin-dependent protein binding	IDA	28031292
GO:1903644	Process	Regulation of chaperone-mediated protein folding	IDA	7957263

Other IDs

• MIM: 604139
• HGNC: 5228
• e!Ensembl: ENSG00000135924

Protein

• UniProt ID: P25686
• Protein name: DnaJ homolog subfamily B member 2 (Heat shock 40 kDa protein 3) (Heat shock protein J1) (HSJ-1)
• Protein function: Functions as a co-chaperone, regulating the substrate binding and activating the ATPase activity of chaperones of the HSP70/heat shock protein 70 family (PubMed:22219199, PubMed:7957263). In parallel, also contributes to the ubiquitin-dependent
• PDB: 2LGW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00226	DnaJ	3 → 66	DnaJ domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: More abundantly expressed in neocortex, cerebellum, spinal cord and retina where it is expressed by neuronal cells (at protein level) (PubMed:12754272, PubMed:1599432). Detected at much lower level in non-neuronal tissues including kid
• Sequence:

  MASYYEILDVPRSASADDIKKAYRRKALQWHPDKNPDNKEFAEKKFKEVAEAYEVLSDKH
  KREIYDRYGREGLTGTGTGPSRAEAGSGGPGFTFTFRSPEEVFREFFGSGDPFAELFDDL
  GPFSELQNRGSRHSGPFFTFSSSFPGHSDFSSSSFSFSPGAGAFRSVSTSTTFVQGRRIT
  TRRIMENGQERVEVEEDGQLKSVTINGVPDDLALGLELSRREQQPSVTSRSGGTQVQQTP
  ASCPLDSDLSEDEDLQLAMAYSLSEMEAAGKKPAGGREAQHRRQGRPKAQHQDPGLGGTQ
  EGARGEATKRSPSPEEKASRCLIL

• Sequence length: 324

Pathways

KEGG:

Protein processing in endoplasmic reticulum

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Charcot-marie-tooth disease	Charcot-Marie-Tooth Disease, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T, DNAJB2-related Charcot-Marie-Tooth disease type 2	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	26633545
Distal hereditary motor neuronopathy	Young adult-onset distal hereditary motor neuropathy	rs104894345, rs104894351, rs137852970, rs137852972, rs267607143, rs267607145, rs28939680, rs29001571, rs28937568, rs28937569, rs104894020, rs121909112, rs121909113, rs121909342, rs786205090, rs137852644, rs137852646, rs121913595, rs387906904, rs387907242, rs398123028, rs398122838, rs730880031, rs730882139, rs730882140, rs267607623, rs797044802, rs746581714, rs756614404, rs770272088, rs876661124, rs879253868, rs879254085, rs764813110, rs1060502838, rs1064796370, rs1554338260, rs137852973, rs1347223331, rs377626365, rs772217003, rs1553174566, rs1324667543, rs557327165, rs1441260635, rs1565929080, rs770593694, rs1584026191, rs372181708, rs758322672, rs1587668798, rs1587671674, rs972425138, rs1594427564, rs1594445698, rs1594453111, rs1337346956, rs1240319744, rs199839840, rs754422011, rs1595599240, rs1595600898, rs1555408333, rs774079947, rs1584034430, rs562669797, rs749383814, rs762573767, rs767263669, rs746212067, rs1182614290, rs1018405924
Spinal muscular atrophy	Spinal Muscular Atrophy	rs104893922, rs1554066397, rs77804083, rs104893930, rs104893927, rs104893935, rs387906738, rs398123028, rs371707778, rs398123030, rs587780564, rs713993043, rs727505393, rs797044855, rs863223361, rs797045412, rs869320621, rs879254085, rs1057518083, rs1064795760, rs1131691347, rs1554082383, rs1554338262, rs1561503058, rs1564061982, rs141760116, rs1217001154, rs1561498701, rs77668214, rs1587671674, rs972425138, rs1595599240, rs1587668077, rs1587668748, rs1587668769, rs1263279945, rs1889019962

Unknown
Disease term	Disease name	Evidence	References	Source
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth disease axonal type 2T			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Amyotrophic Lateral Sclerosis	Associate	28031292
Charcot Marie Tooth Disease	Associate	26556829, 26752306, 28031292, 34169998
Charcot Marie Tooth disease X linked recessive 2	Associate	28031292
Distal Hereditary Motor Neuropathy Type II	Associate	28031292
Epstein Barr Virus Infections	Associate	16448567
Hearing Loss	Associate	35286755
Hereditary Sensory and Motor Neuropathy	Associate	35286755
Muscular Atrophy Spinal	Associate	27449489, 28031292
Muscular Diseases	Associate	37070754
Neoplastic Syndromes Hereditary	Associate	26752306, 35286755
Nervous System Diseases	Associate	35286755
Neurodegenerative Diseases	Associate	28031292
Parkinson Disease	Associate	35286755
Parkinson Disease Secondary	Associate	27449489, 28031292, 35286755, 37070754
Peripheral Nervous System Diseases	Associate	26556829, 37070754
Post Infectious Disorders	Associate	16448567
Spastic Paraplegia Hereditary	Associate	26556829
Vacuolar Neuromyopathy	Associate	37070754