ARHGEF10 (Rho guanine nucleotide exchange factor 10)

Gene

• Entrez ID: 9639
• Gene name: Rho guanine nucleotide exchange factor 10
• Gene symbol: ARHGEF10
• Synonyms (NCBI Gene): GEF10, SNCV
• Disease Acronyms (UniProt): SNCV
• Chromosome: 8
• Chromosome location: 8p23.3
• Summary: This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Muta

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940281	C>T	Pathogenic	Coding sequence variant, missense variant
rs587777712	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1585296361	G>T	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021449	hsa-miR-9-5p	Microarray	17612493
MIRT026698	hsa-miR-192-5p	Microarray	19074876
MIRT795223	hsa-miR-101	CLIP-seq
MIRT795224	hsa-miR-1184	CLIP-seq
MIRT795225	hsa-miR-1205	CLIP-seq
MIRT795226	hsa-miR-1253	CLIP-seq
MIRT795227	hsa-miR-1258	CLIP-seq
MIRT795228	hsa-miR-1290	CLIP-seq
MIRT795229	hsa-miR-132	CLIP-seq
MIRT795230	hsa-miR-1324	CLIP-seq
MIRT795231	hsa-miR-144	CLIP-seq
MIRT795232	hsa-miR-200b	CLIP-seq
MIRT795233	hsa-miR-200c	CLIP-seq
MIRT795234	hsa-miR-2053	CLIP-seq
MIRT795235	hsa-miR-212	CLIP-seq
MIRT795236	hsa-miR-224	CLIP-seq
MIRT795237	hsa-miR-2276	CLIP-seq
MIRT795238	hsa-miR-23a	CLIP-seq
MIRT795239	hsa-miR-23b	CLIP-seq
MIRT795240	hsa-miR-23c	CLIP-seq
MIRT795241	hsa-miR-2467-3p	CLIP-seq
MIRT795242	hsa-miR-25	CLIP-seq
MIRT795243	hsa-miR-3130-3p	CLIP-seq
MIRT795244	hsa-miR-3144-3p	CLIP-seq
MIRT795245	hsa-miR-3148	CLIP-seq
MIRT795246	hsa-miR-3152-3p	CLIP-seq
MIRT795247	hsa-miR-3155	CLIP-seq
MIRT795248	hsa-miR-3155b	CLIP-seq
MIRT795249	hsa-miR-3158-5p	CLIP-seq
MIRT795250	hsa-miR-3159	CLIP-seq
MIRT795251	hsa-miR-3186-5p	CLIP-seq
MIRT795252	hsa-miR-32	CLIP-seq
MIRT795253	hsa-miR-329	CLIP-seq
MIRT795254	hsa-miR-34b	CLIP-seq
MIRT795255	hsa-miR-361-3p	CLIP-seq
MIRT795256	hsa-miR-3620	CLIP-seq
MIRT795257	hsa-miR-362-3p	CLIP-seq
MIRT795258	hsa-miR-363	CLIP-seq
MIRT795259	hsa-miR-3650	CLIP-seq
MIRT795260	hsa-miR-367	CLIP-seq
MIRT795261	hsa-miR-3678-3p	CLIP-seq
MIRT795262	hsa-miR-3941	CLIP-seq
MIRT795263	hsa-miR-3978	CLIP-seq
MIRT795264	hsa-miR-4251	CLIP-seq
MIRT795265	hsa-miR-429	CLIP-seq
MIRT795266	hsa-miR-4299	CLIP-seq
MIRT795267	hsa-miR-4427	CLIP-seq
MIRT795268	hsa-miR-4438	CLIP-seq
MIRT795269	hsa-miR-4453	CLIP-seq
MIRT795270	hsa-miR-4456	CLIP-seq
MIRT795271	hsa-miR-4474-5p	CLIP-seq
MIRT795272	hsa-miR-4502	CLIP-seq
MIRT795273	hsa-miR-452	CLIP-seq
MIRT795274	hsa-miR-4528	CLIP-seq
MIRT795275	hsa-miR-4538	CLIP-seq
MIRT795276	hsa-miR-4670-3p	CLIP-seq
MIRT795277	hsa-miR-4676-3p	CLIP-seq
MIRT795278	hsa-miR-4695-5p	CLIP-seq
MIRT795279	hsa-miR-4712-5p	CLIP-seq
MIRT795280	hsa-miR-4713-5p	CLIP-seq
MIRT795281	hsa-miR-4717-3p	CLIP-seq
MIRT795282	hsa-miR-4724-5p	CLIP-seq
MIRT795283	hsa-miR-4729	CLIP-seq
MIRT795284	hsa-miR-4747-5p	CLIP-seq
MIRT795285	hsa-miR-4763-5p	CLIP-seq
MIRT795286	hsa-miR-4772-3p	CLIP-seq
MIRT795287	hsa-miR-4780	CLIP-seq
MIRT795288	hsa-miR-4793-3p	CLIP-seq
MIRT795289	hsa-miR-4800-3p	CLIP-seq
MIRT795290	hsa-miR-484	CLIP-seq
MIRT795291	hsa-miR-489	CLIP-seq
MIRT795292	hsa-miR-501-3p	CLIP-seq
MIRT795293	hsa-miR-502-3p	CLIP-seq
MIRT795294	hsa-miR-544	CLIP-seq
MIRT795295	hsa-miR-548q	CLIP-seq
MIRT795296	hsa-miR-550a	CLIP-seq
MIRT795297	hsa-miR-578	CLIP-seq
MIRT795298	hsa-miR-580	CLIP-seq
MIRT795299	hsa-miR-603	CLIP-seq
MIRT795300	hsa-miR-646	CLIP-seq
MIRT795301	hsa-miR-651	CLIP-seq
MIRT795302	hsa-miR-770-5p	CLIP-seq
MIRT795303	hsa-miR-885-5p	CLIP-seq
MIRT795304	hsa-miR-92a	CLIP-seq
MIRT795305	hsa-miR-92b	CLIP-seq
MIRT1934762	hsa-miR-1179	CLIP-seq
MIRT1934763	hsa-miR-1207-5p	CLIP-seq
MIRT1934764	hsa-miR-1252	CLIP-seq
MIRT795226	hsa-miR-1253	CLIP-seq
MIRT1934765	hsa-miR-1275	CLIP-seq
MIRT1934766	hsa-miR-1298	CLIP-seq
MIRT795230	hsa-miR-1324	CLIP-seq
MIRT1934767	hsa-miR-186	CLIP-seq
MIRT1934768	hsa-miR-214	CLIP-seq
MIRT1934769	hsa-miR-2392	CLIP-seq
MIRT795238	hsa-miR-23a	CLIP-seq
MIRT795239	hsa-miR-23b	CLIP-seq
MIRT795240	hsa-miR-23c	CLIP-seq
MIRT795242	hsa-miR-25	CLIP-seq
MIRT1934770	hsa-miR-29a	CLIP-seq
MIRT1934771	hsa-miR-29b	CLIP-seq
MIRT1934772	hsa-miR-29c	CLIP-seq
MIRT1934773	hsa-miR-302a	CLIP-seq
MIRT1934774	hsa-miR-302b	CLIP-seq
MIRT1934775	hsa-miR-302c	CLIP-seq
MIRT1934776	hsa-miR-302d	CLIP-seq
MIRT1934777	hsa-miR-302e	CLIP-seq
MIRT1934778	hsa-miR-3120-3p	CLIP-seq
MIRT1934779	hsa-miR-3143	CLIP-seq
MIRT795244	hsa-miR-3144-3p	CLIP-seq
MIRT795245	hsa-miR-3148	CLIP-seq
MIRT795250	hsa-miR-3159	CLIP-seq
MIRT1934780	hsa-miR-3166	CLIP-seq
MIRT795252	hsa-miR-32	CLIP-seq
MIRT795254	hsa-miR-34b	CLIP-seq
MIRT1934781	hsa-miR-3613-3p	CLIP-seq
MIRT1934782	hsa-miR-3619-5p	CLIP-seq
MIRT795258	hsa-miR-363	CLIP-seq
MIRT795260	hsa-miR-367	CLIP-seq
MIRT1934783	hsa-miR-372	CLIP-seq
MIRT1934784	hsa-miR-373	CLIP-seq
MIRT795263	hsa-miR-3978	CLIP-seq
MIRT1934785	hsa-miR-4267	CLIP-seq
MIRT1934786	hsa-miR-4274	CLIP-seq
MIRT1934787	hsa-miR-4291	CLIP-seq
MIRT1934788	hsa-miR-4310	CLIP-seq
MIRT1934789	hsa-miR-4422	CLIP-seq
MIRT1934790	hsa-miR-4433	CLIP-seq
MIRT795269	hsa-miR-4453	CLIP-seq
MIRT1934791	hsa-miR-4525	CLIP-seq
MIRT795274	hsa-miR-4528	CLIP-seq
MIRT795275	hsa-miR-4538	CLIP-seq
MIRT1934792	hsa-miR-4665-5p	CLIP-seq
MIRT1934793	hsa-miR-4714-3p	CLIP-seq
MIRT795281	hsa-miR-4717-3p	CLIP-seq
MIRT1934794	hsa-miR-4723-5p	CLIP-seq
MIRT795283	hsa-miR-4729	CLIP-seq
MIRT1934795	hsa-miR-4733-3p	CLIP-seq
MIRT1934796	hsa-miR-4736	CLIP-seq
MIRT795284	hsa-miR-4747-5p	CLIP-seq
MIRT1934797	hsa-miR-4763-3p	CLIP-seq
MIRT795285	hsa-miR-4763-5p	CLIP-seq
MIRT1934798	hsa-miR-4766-5p	CLIP-seq
MIRT1934799	hsa-miR-4773	CLIP-seq
MIRT795292	hsa-miR-501-3p	CLIP-seq
MIRT795293	hsa-miR-502-3p	CLIP-seq
MIRT1934800	hsa-miR-520a-3p	CLIP-seq
MIRT1934801	hsa-miR-520b	CLIP-seq
MIRT1934802	hsa-miR-520c-3p	CLIP-seq
MIRT1934803	hsa-miR-520d-3p	CLIP-seq
MIRT1934804	hsa-miR-520e	CLIP-seq
MIRT1934805	hsa-miR-543	CLIP-seq
MIRT795299	hsa-miR-603	CLIP-seq
MIRT1934806	hsa-miR-625	CLIP-seq
MIRT1934807	hsa-miR-652	CLIP-seq
MIRT1934808	hsa-miR-665	CLIP-seq
MIRT1934809	hsa-miR-761	CLIP-seq
MIRT795303	hsa-miR-885-5p	CLIP-seq
MIRT1934810	hsa-miR-922	CLIP-seq
MIRT795304	hsa-miR-92a	CLIP-seq
MIRT795305	hsa-miR-92b	CLIP-seq
MIRT2174570	hsa-miR-106a	CLIP-seq
MIRT2174571	hsa-miR-106b	CLIP-seq
MIRT1934762	hsa-miR-1179	CLIP-seq
MIRT795226	hsa-miR-1253	CLIP-seq
MIRT1934765	hsa-miR-1275	CLIP-seq
MIRT1934766	hsa-miR-1298	CLIP-seq
MIRT2174572	hsa-miR-17	CLIP-seq
MIRT795234	hsa-miR-2053	CLIP-seq
MIRT2174573	hsa-miR-20a	CLIP-seq
MIRT2174574	hsa-miR-20b	CLIP-seq
MIRT2174575	hsa-miR-2277-3p	CLIP-seq
MIRT795238	hsa-miR-23a	CLIP-seq
MIRT795239	hsa-miR-23b	CLIP-seq
MIRT795240	hsa-miR-23c	CLIP-seq
MIRT1934770	hsa-miR-29a	CLIP-seq
MIRT1934771	hsa-miR-29b	CLIP-seq
MIRT1934772	hsa-miR-29c	CLIP-seq
MIRT1934773	hsa-miR-302a	CLIP-seq
MIRT1934774	hsa-miR-302b	CLIP-seq
MIRT1934775	hsa-miR-302c	CLIP-seq
MIRT1934776	hsa-miR-302d	CLIP-seq
MIRT1934777	hsa-miR-302e	CLIP-seq
MIRT1934780	hsa-miR-3166	CLIP-seq
MIRT2174576	hsa-miR-338-3p	CLIP-seq
MIRT795254	hsa-miR-34b	CLIP-seq
MIRT2174577	hsa-miR-3607-3p	CLIP-seq
MIRT2174578	hsa-miR-3609	CLIP-seq
MIRT2174579	hsa-miR-3686	CLIP-seq
MIRT1934783	hsa-miR-372	CLIP-seq
MIRT1934784	hsa-miR-373	CLIP-seq
MIRT1934788	hsa-miR-4310	CLIP-seq
MIRT2174580	hsa-miR-4329	CLIP-seq
MIRT1934789	hsa-miR-4422	CLIP-seq
MIRT1934790	hsa-miR-4433	CLIP-seq
MIRT795269	hsa-miR-4453	CLIP-seq
MIRT1934791	hsa-miR-4525	CLIP-seq
MIRT795275	hsa-miR-4538	CLIP-seq
MIRT2174581	hsa-miR-4663	CLIP-seq
MIRT1934792	hsa-miR-4665-5p	CLIP-seq
MIRT795281	hsa-miR-4717-3p	CLIP-seq
MIRT1934794	hsa-miR-4723-5p	CLIP-seq
MIRT1934795	hsa-miR-4733-3p	CLIP-seq
MIRT795284	hsa-miR-4747-5p	CLIP-seq
MIRT795285	hsa-miR-4763-5p	CLIP-seq
MIRT2174582	hsa-miR-4796-3p	CLIP-seq
MIRT2174583	hsa-miR-512-3p	CLIP-seq
MIRT2174584	hsa-miR-519d	CLIP-seq
MIRT1934800	hsa-miR-520a-3p	CLIP-seq
MIRT1934801	hsa-miR-520b	CLIP-seq
MIRT1934802	hsa-miR-520c-3p	CLIP-seq
MIRT1934803	hsa-miR-520d-3p	CLIP-seq
MIRT1934804	hsa-miR-520e	CLIP-seq
MIRT2174585	hsa-miR-548ah	CLIP-seq
MIRT795298	hsa-miR-580	CLIP-seq
MIRT1934806	hsa-miR-625	CLIP-seq
MIRT1934808	hsa-miR-665	CLIP-seq
MIRT2174586	hsa-miR-93	CLIP-seq
MIRT795230	hsa-miR-1324	CLIP-seq
MIRT1934768	hsa-miR-214	CLIP-seq
MIRT1934769	hsa-miR-2392	CLIP-seq
MIRT795243	hsa-miR-3130-3p	CLIP-seq
MIRT795251	hsa-miR-3186-5p	CLIP-seq
MIRT1934782	hsa-miR-3619-5p	CLIP-seq
MIRT1934787	hsa-miR-4291	CLIP-seq
MIRT795268	hsa-miR-4438	CLIP-seq
MIRT795288	hsa-miR-4793-3p	CLIP-seq
MIRT1934807	hsa-miR-652	CLIP-seq
MIRT1934809	hsa-miR-761	CLIP-seq
MIRT1934810	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	16896804, 19635168, 20042462
GO:0005515	Function	Protein binding	IPI	19635168
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005813	Component	Centrosome	IDA	19635168
GO:0005829	Component	Cytosol	NAS	16896804
GO:0019894	Function	Kinesin binding	IPI	19635168
GO:0022011	Process	Myelination in peripheral nervous system	IMP	14508709
GO:0030036	Process	Actin cytoskeleton organization	IBA	21873635
GO:0035023	Process	Regulation of Rho protein signal transduction	IEA
GO:0051298	Process	Centrosome duplication	IMP	19635168
GO:0051496	Process	Positive regulation of stress fiber assembly	IBA	21873635
GO:0051496	Process	Positive regulation of stress fiber assembly	IMP	16896804
GO:0090307	Process	Mitotic spindle assembly	IBA	21873635
GO:0090307	Process	Mitotic spindle assembly	IMP	19635168
GO:0090630	Process	Activation of GTPase activity	IDA	16896804

Other IDs

• MIM: 608136
• HGNC: 14103
• e!Ensembl: ENSG00000104728

Protein

• UniProt ID: O15013
• Protein name: Rho guanine nucleotide exchange factor 10
• Protein function: May play a role in developmental myelination of peripheral nerves.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00621	RhoGEF	425 → 606	RhoGEF domain	Domain
  PF19057	PH_19	629 → 778		Domain
  PF19056	WD40_2	886 → 1368		Repeat

• Sequence:

  MRPPGFLSRAPSLNRAERGIWSCSMDQREPLPPAPAENEMKYDTNNNEEEEGEQFDFDSG
  DEIPEADRQAPSAPETGGAGASEAPAPTGGEDGAGAETTPVAEPTKLVLPMKVNPYSVID
  ITPFQEDQPPTPVPSAEEENVGLHVPCGYLVPVPCGYAVPSNLPLLLPAYSSPVIICATS
  LDEEAETPEVTEDRQPNSLSSEEPPTSEDQVGREDSALARWAADPANTAWMENPEEAIYD
  DVPRENSDSEPDEMIYDDVENGDEGGNSSLEYGWSSSEFESYEEQSDSECKNGIPRSFLR
  SNHKKQLSHDLTRLKEHYEKKMRDLMASTVGVVEIQQLRQKHELKMQKLVKAAKDGTKDG
  LERTRAAVKRGRSFIRTKSLIAQDHRSSLEEEQNLFIDVDCKHPEAILTPMPEGLSQQQV
  VRRYILGSVVDSEKNYVDALKRILEQYEKPLSEMEPKVLSERKLKTVFYRVKEILQCHSL
  FQIALASRVSEWDSVEMIGDVFVASFSKSMVLDAYSEYVNNFSTAVAVLKKTCATKPAFL
  EFLKQEQEASPDRTTLYSLMMKPIQRFPQFILLLQDMLKNTSKGHPDRLPLQMALTELET
  LAEKLNERKRDADQRCEVKQIAKAINERYLNKLLSSGSRYLIRSDDMIETVYNDRGEIVK
  TKERRVFMLNDVLMCATVSSRPSHDSRVMSSQRYLLKWSVPLGHVDAIEYGSSAGTGEHS
  RHLAVHPPESLAVVANAKPNKVYMGPGQLYQDLQNLLHDLNVIGQITQLIGNLKGNYQNL
  NQSVAHDWTSGLQRLILKKEDEIRAADCCRIQLQLPGKQDKSGRPTFFTAVFNTFTPAIK
  ESWVNSLQMAKLALEEENHMGWFCVEDDGNHIKKEKHPLLVGHMPVMVAKQQEFKIECAA
  YNPEPYLNNESQPDSFSTAHGFLWIGSCTHQMGQIAIVSFQNSTPKVIECFNVESRILCM
  LYVPVEEKRREPGAPPDPETPAVRASDVPTICVGTEEGSISIYKSSQGSKKVRLQHFFTP
  EKSTVMSLACTSQSLYAGLVNGAVASYARAPDGSWDSEPQKVIKLGVLPVRSLLMMEDTL
  WAASGGQVFIISVETHAVEGQLEAHQEEGMVISHMAVSGVGIWIAFTSGSTLRLFHTETL
  KHLQDINIATPVHNMLPGHQRLSVTSLLVCHGLLMVGTSLGVLVALPVPRLQGIPKVTGR
  GMVSYHAHNSPVKFIVLATALHEKDKDKSRDSLAPGPEPQDEDQKDALPSGGAGSSLSQG
  DPDAAIWLGDSLGSMTQKSDLSSSSGSLSLSHGSSSLEHRSEDSTIYDLLKDPVSLRSKA
  RRAKKAKASSALVVCGGQGHRRVHRKARQPHQEELAPTVMVWQIPLLNI

• Sequence length: 1369

Pathways

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	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	25025039
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	23412934

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Mental Depression, Depressive disorder		19204725	ClinVar
Slowed nerve conduction velocity	Slowed Nerve Conduction Velocity, Autosomal Dominant, Autosomal dominant slowed nerve conduction velocity		14508709	ClinVar
Peripheral Neuropathy	hereditary peripheral neuropathy, peripheral neuropathy			GenCC
Slowed Nerve Conduction Velocity	autosomal dominant slowed nerve conduction velocity			GenCC
Multiple Sclerosis	Multiple Sclerosis			GWAS
Mental Depression	Mental Depression			GWAS
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.		GWAS, CBGDA
Dementia	Dementia			GWAS
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acne Vulgaris	Associate	37018476
Amyotrophic Lateral Sclerosis	Stimulate	40033250
Autistic Disorder	Associate	36150388
Behcet Syndrome	Associate	33124559
Charcot Marie Tooth Disease	Associate	25164601, 26143528, 34169998
Chromosome 15q trisomy	Associate	34247824
Cleft Palate	Associate	31372216
Contracture	Associate	35260397
Developmental Disabilities	Associate	28901431
Diabetic Foot	Associate	35260397
Eyelid Diseases	Associate	35260397
Hypertriglyceridemia	Associate	29246731
Melanoma Cutaneous Malignant	Associate	28510328
Microcephaly	Associate	28901431
Muscular Atrophy	Associate	35260397
Neoplasms	Inhibit	18840272
Neoplasms	Associate	37489460
Neoplastic Syndromes Hereditary	Associate	32700628
Neurobehavioral Manifestations	Associate	28901431
Orbital Pseudotumor	Associate	35260397
Osteosarcoma	Associate	19635168
Peripheral Nervous System Diseases	Associate	25164601, 26143528
Stroke	Associate	21743172