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	57449
Gene name	Pleckstrin homology and RhoGEF domain containing G5
Gene symbol	PLEKHG5
Synonyms (NCBI Gene)	ARHGEF45CMTRICDSMA4GEF720HMNR4SyxTech
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

Show/Hide all (33)

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

119

Show/Hide all (119)

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

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	ISS
GO:0007266	Process	Rho protein signal transduction	IBA
GO:0016020	Component	Membrane	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030139	Component	Endocytic vesicle	IBA
GO:0030139	Component	Endocytic vesicle	ISS
GO:0030424	Component	Axon	IBA
GO:0035767	Process	Endothelial cell chemotaxis	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	HMP	12761501
GO:0043542	Process	Endothelial cell migration	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
611101	29105	ENSG00000171680

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

Interactions

View interactions

	KEGG		Reactome
	Pathways in cancer		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 Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease recessive intermediate C	Likely pathogenic; Pathogenic	rs184242303, rs376900021, rs760122001, rs1557742277, rs1266507622, rs1443592761, rs2148578668, rs2148591365, rs2148585199, rs2148627334, rs1199089543, rs778854412, rs773188120, rs1405080200, rs2523172908 View all (42 more)	RCV001386746 RCV001381013 RCV001865928 RCV001808192 RCV001957293 View all (53 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glioma susceptibility 1	Likely pathogenic	rs1553174500	RCV005901192	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic	rs910474236	RCV001027499	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile amyotrophic lateral sclerosis	Likely pathogenic; Pathogenic	rs1644506661, rs1435710212	RCV001095533 RCV001095532	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, autosomal recessive 4	Likely pathogenic; Pathogenic	rs184242303, rs376900021, rs760122001, rs1266507622, rs1443592761, rs2148578668, rs2148591365, rs2148585199, rs2148627334, rs2523115231, rs1199089543, rs778854412, rs773188120, rs1405080200, rs2523172908 View all (44 more)	RCV001386746 RCV001381013 RCV001865928 RCV001957293 RCV001941748 View all (54 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PLEKHG5-related disorder	Likely pathogenic; Pathogenic	rs1443592761	RCV003418253	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal muscular atrophy, facioscapulohumeral type	Pathogenic	rs1553175760	RCV000664238	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (36)

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
ATROPHY OF TESTIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	ClinVar, Disgenet ClinVar, Disgenet ClinVar, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal spinal muscular atrophy	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary motor neuron disease	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASE	—	CTD, ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ 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	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular atrophy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (46)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	25681989	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive lower motor neuron disease with childhood onset	Distal hereditary motor neuronopathy	BEFREE	17564964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive lower motor neuron disease with childhood onset	Distal hereditary motor neuronopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24126053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bundle Branch Block	Bundle branch block	Pubtator	33567613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	23777631, 23844677, 25326399		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	17564964		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C	Charcot-Marie-Tooth Disease	CLINVAR_DG	17564964, 23777631		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C	Charcot-Marie-Tooth Disease	UNIPROT_DG	23777631, 23844677		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C	Charcot-Marie-Tooth Disease	ORPHANET_DG	23777631, 23844677		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C	Charcot-Marie-Tooth Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	24508273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	31614031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	23844677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24508273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Spinal Muscular Atrophy	Distal Spinal Muscular Atrophy	GENOMICS_ENGLAND_DG	17564964		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glioblastoma	Glioblastoma	Pubtator	33318498, 35639414, 37427593	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31309383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33318498	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	23844677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30456845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	LHGDN	17564964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	23844677, 33275839	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease, Lower	Motor Neuron Disease	BEFREE	23777631, 23844677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	24076602		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	34897098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11704860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11704860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	33567613	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	33275839	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Presenile dementia	Senile Dementia	BEFREE	31614031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy Type IV	Spinal muscular atrophy	Pubtator	33275839	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4	Spinal Muscular Atrophy	GENOMICS_ENGLAND_DG	17564964		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4	Spinal Muscular Atrophy	UNIPROT_DG	17564964		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4	Spinal Muscular Atrophy	ORPHANET_DG	17564964		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4	Spinal Muscular Atrophy	CLINVAR_DG	17564964, 23777631		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4	Spinal Muscular Atrophy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy, Facioscapulohumeral Type	Facioscapulohumeral Spinal Muscular Atrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid Neoplasms	Thyroid cancer	Pubtator	38165228	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5)