PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5)

Gene

• Entrez ID: 57449
• Gene name: Pleckstrin homology and RhoGEF domain containing G5
• Gene symbol: PLEKHG5
• Synonyms (NCBI Gene): ARHGEF45, CMTRIC, DSMA4, GEF720, HMNR4, Syx, Tech
• Disease Acronyms (UniProt): CMTRIC, HMNR4
• Chromosome: 1
• Chromosome location: 1p36.31
• Summary: This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have b

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61730399	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs63750315	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs77134982	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs111400494	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs139041955	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs140202670	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs140687324	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs140817021	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs141032388	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs144245744	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs144750655	T>C	Likely-pathogenic, uncertain-significance	Splice acceptor variant
rs148232621	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs150807400	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs200162521	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs202191898	C>G,T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs373184968	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs373880458	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs374286001	G>A	Pathogenic	Coding sequence variant, missense variant
rs397515454	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515455	->GTCTTCA	Pathogenic	Coding sequence variant, stop gained
rs397515456	G>A	Pathogenic	Coding sequence variant, missense variant
rs759212541	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs770593694	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs772217003	G>A	Pathogenic	Stop gained, coding sequence variant
rs776561735	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs867638588	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs910474236	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1441260635	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553174500	C>T	Likely-pathogenic	Splice donor variant
rs1553174566	T>C	Likely-pathogenic	Splice acceptor variant
rs1553175760	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569845887	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1569875704	GGGGGGCCCGGTCCCAGCTGGCCGCAGAATCGGCAAACTCAGGGACTTGGAGTCCTTCATGCCCTGCTCCACCTTGCCCTCATCTCCAGGC>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT535162	hsa-miR-6732-3p	PAR-CLIP	22012620
MIRT535161	hsa-miR-1255b-2-3p	PAR-CLIP	22012620
MIRT535160	hsa-miR-6793-3p	PAR-CLIP	22012620
MIRT535159	hsa-miR-125a-5p	PAR-CLIP	22012620
MIRT535158	hsa-miR-125b-5p	PAR-CLIP	22012620
MIRT535157	hsa-miR-4319	PAR-CLIP	22012620
MIRT535156	hsa-miR-4324	PAR-CLIP	22012620
MIRT535155	hsa-miR-4431	PAR-CLIP	22012620
MIRT535154	hsa-miR-4251	PAR-CLIP	22012620
MIRT535153	hsa-miR-589-5p	PAR-CLIP	22012620
MIRT535152	hsa-miR-146a-5p	PAR-CLIP	22012620
MIRT535151	hsa-miR-146b-5p	PAR-CLIP	22012620
MIRT535150	hsa-miR-7153-5p	PAR-CLIP	22012620
MIRT535149	hsa-miR-5699-5p	PAR-CLIP	22012620
MIRT535148	hsa-miR-744-5p	PAR-CLIP	22012620
MIRT535147	hsa-miR-764	PAR-CLIP	22012620
MIRT535146	hsa-miR-615-3p	PAR-CLIP	22012620
MIRT535145	hsa-miR-6087	PAR-CLIP	22012620
MIRT535144	hsa-miR-4313	PAR-CLIP	22012620
MIRT535143	hsa-miR-4632-3p	PAR-CLIP	22012620
MIRT535142	hsa-miR-128-1-5p	PAR-CLIP	22012620
MIRT535141	hsa-miR-128-2-5p	PAR-CLIP	22012620
MIRT535162	hsa-miR-6732-3p	PAR-CLIP	22012620
MIRT535161	hsa-miR-1255b-2-3p	PAR-CLIP	22012620
MIRT535160	hsa-miR-6793-3p	PAR-CLIP	22012620
MIRT535159	hsa-miR-125a-5p	PAR-CLIP	22012620
MIRT535158	hsa-miR-125b-5p	PAR-CLIP	22012620
MIRT535157	hsa-miR-4319	PAR-CLIP	22012620
MIRT535156	hsa-miR-4324	PAR-CLIP	22012620
MIRT535155	hsa-miR-4431	PAR-CLIP	22012620
MIRT535154	hsa-miR-4251	PAR-CLIP	22012620
MIRT535153	hsa-miR-589-5p	PAR-CLIP	22012620
MIRT535152	hsa-miR-146a-5p	PAR-CLIP	22012620
MIRT535151	hsa-miR-146b-5p	PAR-CLIP	22012620
MIRT535150	hsa-miR-7153-5p	PAR-CLIP	22012620
MIRT535149	hsa-miR-5699-5p	PAR-CLIP	22012620
MIRT535148	hsa-miR-744-5p	PAR-CLIP	22012620
MIRT535147	hsa-miR-764	PAR-CLIP	22012620
MIRT535146	hsa-miR-615-3p	PAR-CLIP	22012620
MIRT535145	hsa-miR-6087	PAR-CLIP	22012620
MIRT535144	hsa-miR-4313	PAR-CLIP	22012620
MIRT535143	hsa-miR-4632-3p	PAR-CLIP	22012620
MIRT535142	hsa-miR-128-1-5p	PAR-CLIP	22012620
MIRT535141	hsa-miR-128-2-5p	PAR-CLIP	22012620
MIRT1242011	hsa-miR-1275	CLIP-seq
MIRT1242012	hsa-miR-1282	CLIP-seq
MIRT1242013	hsa-miR-183	CLIP-seq
MIRT1242014	hsa-miR-3147	CLIP-seq
MIRT1242015	hsa-miR-3170	CLIP-seq
MIRT1242016	hsa-miR-3614-5p	CLIP-seq
MIRT1242017	hsa-miR-3652	CLIP-seq
MIRT1242018	hsa-miR-3926	CLIP-seq
MIRT1242019	hsa-miR-4299	CLIP-seq
MIRT1242020	hsa-miR-4430	CLIP-seq
MIRT1242021	hsa-miR-4433	CLIP-seq
MIRT1242022	hsa-miR-4456	CLIP-seq
MIRT1242023	hsa-miR-4459	CLIP-seq
MIRT1242024	hsa-miR-4505	CLIP-seq
MIRT1242025	hsa-miR-4527	CLIP-seq
MIRT1242026	hsa-miR-4640-5p	CLIP-seq
MIRT1242027	hsa-miR-4665-5p	CLIP-seq
MIRT1242028	hsa-miR-4722-5p	CLIP-seq
MIRT1242029	hsa-miR-4726-5p	CLIP-seq
MIRT1242030	hsa-miR-4731-5p	CLIP-seq
MIRT1242031	hsa-miR-4768-3p	CLIP-seq
MIRT1242032	hsa-miR-4786-5p	CLIP-seq
MIRT1242033	hsa-miR-4802-5p	CLIP-seq
MIRT1242034	hsa-miR-486-3p	CLIP-seq
MIRT1242035	hsa-miR-548q	CLIP-seq
MIRT1242036	hsa-miR-615-5p	CLIP-seq
MIRT1242037	hsa-miR-635	CLIP-seq
MIRT1242038	hsa-miR-765	CLIP-seq
MIRT1242039	hsa-miR-1224-3p	CLIP-seq
MIRT1242040	hsa-miR-146a	CLIP-seq
MIRT1242041	hsa-miR-27a	CLIP-seq
MIRT1242042	hsa-miR-27b	CLIP-seq
MIRT1242043	hsa-miR-3664-5p	CLIP-seq
MIRT1242044	hsa-miR-3672	CLIP-seq
MIRT1242045	hsa-miR-3927	CLIP-seq
MIRT1242046	hsa-miR-4451	CLIP-seq
MIRT1242047	hsa-miR-4475	CLIP-seq
MIRT1242048	hsa-miR-4522	CLIP-seq
MIRT1242049	hsa-miR-4732-5p	CLIP-seq
MIRT1242050	hsa-miR-4742-3p	CLIP-seq
MIRT1242051	hsa-miR-4751	CLIP-seq
MIRT1242052	hsa-miR-4761-5p	CLIP-seq
MIRT1242053	hsa-miR-4797-5p	CLIP-seq
MIRT1242033	hsa-miR-4802-5p	CLIP-seq
MIRT1242054	hsa-miR-513a-5p	CLIP-seq
MIRT1242055	hsa-miR-548b-3p	CLIP-seq
MIRT1242056	hsa-miR-589	CLIP-seq
MIRT1242057	hsa-miR-711	CLIP-seq
MIRT1242058	hsa-miR-759	CLIP-seq
MIRT1242038	hsa-miR-765	CLIP-seq
MIRT1242034	hsa-miR-486-3p	CLIP-seq
MIRT2298540	hsa-miR-1207-5p	CLIP-seq
MIRT1242012	hsa-miR-1282	CLIP-seq
MIRT2298541	hsa-miR-3145-5p	CLIP-seq
MIRT1242021	hsa-miR-4433	CLIP-seq
MIRT2298542	hsa-miR-4436b-3p	CLIP-seq
MIRT2298543	hsa-miR-4447	CLIP-seq
MIRT2298544	hsa-miR-4472	CLIP-seq
MIRT2298545	hsa-miR-4488	CLIP-seq
MIRT2298546	hsa-miR-4697-5p	CLIP-seq
MIRT2298547	hsa-miR-4714-3p	CLIP-seq
MIRT1242028	hsa-miR-4722-5p	CLIP-seq
MIRT2298548	hsa-miR-4763-3p	CLIP-seq
MIRT1242031	hsa-miR-4768-3p	CLIP-seq
MIRT1242053	hsa-miR-4797-5p	CLIP-seq
MIRT1242034	hsa-miR-486-3p	CLIP-seq
MIRT2298549	hsa-miR-499-3p	CLIP-seq
MIRT2298550	hsa-miR-542-3p	CLIP-seq
MIRT1242058	hsa-miR-759	CLIP-seq
MIRT2595562	hsa-miR-1236	CLIP-seq
MIRT2595563	hsa-miR-1289	CLIP-seq
MIRT2595564	hsa-miR-3198	CLIP-seq
MIRT2595565	hsa-miR-4294	CLIP-seq
MIRT2595566	hsa-miR-4305	CLIP-seq
MIRT2595567	hsa-miR-4309	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005911	Component	Cell-cell junction	ISS
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007266	Process	Rho protein signal transduction	IBA	21873635
GO:0030027	Component	Lamellipodium	ISS
GO:0030139	Component	Endocytic vesicle	IBA	21873635
GO:0030139	Component	Endocytic vesicle	ISS
GO:0030424	Component	Axon	IBA	21873635
GO:0035767	Process	Endothelial cell chemotaxis	ISS
GO:0043065	Process	Positive regulation of apoptotic process	TAS
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	HMP	12761501
GO:0043542	Process	Endothelial cell migration	IBA	21873635
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS

Other IDs

• MIM: 611101
• HGNC: 29105
• e!Ensembl: ENSG00000171680

Protein

• UniProt ID: O94827
• Protein name: Pleckstrin homology domain-containing family G member 5 (PH domain-containing family G member 5) (Guanine nucleotide exchange factor 720) (GEF720)
• Protein function: Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons (By similarity). Involved in the control of neuronal cell differentiation (PubMed:11704860). Plays a role in
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00621	RhoGEF	396 → 582	RhoGEF domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in the peripheral nervous system and brain. Highest expression is observed in heart, lung, kidney, testis and moderate expression is present in spleen, pancreas, skeletal muscle, ovary and liver. Weakly expresse
• Sequence:

  MDDQSPAEKKGLRCQNPACMDKGRAAKVCHHADCQQLHRRGPLNLCEACDSKFHSTMHYD
  GHVRFDLPPQGSVLARNVSTRSCPPRTSPAVDLEEEEEESSVDGKGDRKSTGLKLSKKKA
  RRRHTDDPSKECFTLKFDLNVDIETEIVPAMKKKSLGEVLLPVFERKGIALGKVDIYLDQ
  SNTPLSLTFEAYRFGGHYLRVKAPAKPGDEGKVEQGMKDSKSLSLPILRPAGTGPPALER
  VDAQSRRESLDILAPGRRRKNMSEFLGEASIPGQEPPTPSSCSLPSGSSGSTNTGDSWKN
  RAASRFSGFFSSGPSTSAFGREVDKMEQLEGKLHTYSLFGLPRLPRGLRFDHDSWEEEYD
  EDEDEDNACLRLEDSWRELIDGHEKLTRRQCHQQEAVWELLHTEASYIRKLRVIINLFLC
  CLLNLQESGLLCEVEAERLFSNIPEIAQLHRRLWASVMAPVLEKARRTRALLQPGDFLKG
  FKMFGSLFKPYIRYCMEEEGCMEYMRGLLRDNDLFRAYITWAEKHPQCQRLKLSDMLAKP
  HQRLTKYPLLLKSVLRKTEEPRAKEAVVAMIGSVERFIHHVNACMRQRQERQRLAAVVSR
  IDAYEVVESSSDEVDKLLKEFLHLDLTAPIPGASPEETRQLLLEGSLRMKEGKDSKMDVY
  CFLFTDLLLVTKAVKKAERTRVIRPPLLVDKIVCRELRDPGSFLLIYLNEFHSAVGAYTF
  QASGQALCRGWVDTIYNAQNQLQQLRAQEPPGSQQPLQSLEEEEDEQEEEEEEEEEEEEG
  EDSGTSAASSPTIMRKSSGSPDSQHCASDGSTETLAMVVVEPGDTLSSPEFDSGPFSSQS
  DETSLSTTASSATPTSELLPLGPVDGRSCSMDSAYGTLSPTSLQDFVAPGPMAELVPRAP
  ESPRVPSPPPSPRLRRRTPVQLLSCPPHLLKSKSEASLLQLLAGAGTHGTPSAPSRSLSE
  LCLAVPAPGIRTQGSPQEAGPSWDCRGAPSPGSGPGLVGCLAGEPAGSHRKRCGDLPSGA
  SPRVQPEPPPGVSAQHRKLTLAQLYRIRTTLLLNSTLTASEV

• Sequence length: 1062

Pathways

KEGG:

Pathways in cancer

Reactome:

NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Charcot-marie-tooth disease	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, Autosomal recessive intermediate Charcot-Marie-Tooth disease type C	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	17564964, 23844677, 23777631
Distal spinal muscular atrophy	Distal Spinal Muscular Atrophy	rs29001584, rs28941475, rs121434378, rs267607146, rs137852665, rs137852666, rs137852667, rs137852668, rs786205089, rs137852669, rs786205090, rs137852670, rs137852646, rs372000714, rs724159994, rs730882139, rs730882140, rs796065352, rs886037759, rs746581714, rs780594709, rs756614404, rs864309503, rs200089714, rs145226920, rs35193202, rs879253865, rs201060167, rs879253887, rs368775789, rs886043773, rs1057518588, rs1060502838, rs768823392, rs1131691657, rs1554338260, rs1555243325, rs991227431, rs557416644, rs1160978570, rs1000091588, rs770111639, rs1566443170, rs759641927, rs372181708, rs1564096221, rs1332319177, rs1479493690, rs972425138, rs779716706, rs776730737, rs1303837541, rs1337346956, rs750994603, rs199839840, rs1366461184, rs1454639285, rs1594427410, rs145670786	17564964
Distal hereditary motor neuronopathy	Autosomal recessive lower motor neuron disease with childhood onset	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
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	24076602
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spinal muscular atrophy	Spinal Muscular Atrophy, Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4	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	17564964, 23777631

Unknown
Disease term	Disease name	Evidence	References	Source
Distal amyotrophy	Distal amyotrophy			ClinVar
Multiple Sclerosis	Multiple Sclerosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alcoholic Neuropathy	Associate	23844677
Amyotrophic Lateral Sclerosis	Associate	25681989
Breast Neoplasms	Associate	24126053
Bundle Branch Block	Associate	33567613
Cardiomyopathy Right Ventricular Dilated	Associate	33567613
Charcot Marie Tooth Disease	Associate	23844677, 34897098
Charcot Marie Tooth Disease Recessive Intermediate A	Associate	23844677, 34897098
Charcot Marie Tooth disease Type 2B	Associate	34897098
Demyelinating Diseases	Associate	23844677
Glioblastoma	Associate	33318498, 35639414, 37427593
Glioma	Associate	33318498
Hereditary Sensory and Autonomic Neuropathies	Associate	23844677
Motor Neuron Disease	Associate	23844677, 33275839
Muscular Atrophy Spinal	Associate	34897098
Neoplasms	Associate	24126053, 33318498, 37427593
Neuromuscular Diseases	Associate	33567613
Oculocerebrorenal Syndrome	Associate	33275839
Spinal Muscular Atrophy Type IV	Associate	33275839
Thyroid Neoplasms	Associate	38165228