Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9639
Gene name	Rho guanine nucleotide exchange factor 10
Gene symbol	ARHGEF10
Synonyms (NCBI Gene)	GEF10SNCV
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

Show/Hide all (3)

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

230

Show/Hide all (230)

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

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	16896804, 19635168, 20042462
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	19635168
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	19635168
GO:0005829	Component	Cytosol	NAS	16896804
GO:0005829	Component	Cytosol	TAS
GO:0019894	Function	Kinesin binding	IPI	19635168
GO:0022011	Process	Myelination in peripheral nervous system	IMP	14508709
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0035025	Process	Positive regulation of Rho protein signal transduction	IDA	16896804
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051298	Process	Centrosome duplication	IMP	19635168
GO:0051496	Process	Positive regulation of stress fiber assembly	IBA
GO:0051496	Process	Positive regulation of stress fiber assembly	IEA
GO:0051496	Process	Positive regulation of stress fiber assembly	IMP	16896804
GO:0090307	Process	Mitotic spindle assembly	IBA
GO:0090307	Process	Mitotic spindle assembly	IMP	19635168

MIM	HGNC	e!Ensembl
608136	14103	ENSG00000104728

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

Interactions

View interactions

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (35)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARHGEF10-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant slowed nerve conduction velocity	Uncertain significance; Conflicting classifications of pathogenicity; no classifications from unflagged records; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar ClinVar, Disgenet ClinVar, Disgenet ClinVar, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PERIPHERAL NEUROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal muscular atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICOURETERAL REFLUX	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (38)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	BEFREE	29672877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	40033250	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31477830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29456827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	36150388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant slowed nerve conduction velocity	Slowed Nerve Conduction Velocity	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	33124559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19204725		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	20042462, 27934548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG	25025039		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	25091364, 26143528, 28587902		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cleft Palate	Cleft palate	Pubtator	31372216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	35260397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	19204725		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	28901431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	35260397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eyelid Diseases	Eyelid disease	Pubtator	35260397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary liability to pressure palsies	Hereditary Liability To Pressure Palsies	BEFREE	24239057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27934548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	29246731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	21743172, 27934548, 28799234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	28510328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	19204725		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	28901431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	23412934		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	23412934		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	18840272, 20461757, 21412932, 31477830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	19635168	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31477830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	25164601, 26143528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	26143528, 28587902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	26143528, 28587902		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Slowed Nerve Conduction Velocity, Autosomal Dominant	Slowed Nerve Conduction Velocity	UNIPROT_DG	14508709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Slowed Nerve Conduction Velocity, Autosomal Dominant	Slowed Nerve Conduction Velocity	GENOMICS_ENGLAND_DG	14508709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Slowed Nerve Conduction Velocity, Autosomal Dominant	Slowed Nerve Conduction Velocity	ORPHANET_DG	14508709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Slowed Nerve Conduction Velocity, Autosomal Dominant	Slowed Nerve Conduction Velocity	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Slowed Nerve Conduction Velocity, Autosomal Dominant	Slowed Nerve Conduction Velocity	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	21743172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ARHGEF10 (Rho guanine nucleotide exchange factor 10)