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	23229
Gene name	Cdc42 guanine nucleotide exchange factor 9
Gene symbol	ARHGEF9
Synonyms (NCBI Gene)	COLLYBISTINDEE8EIEE8HPEM-2PEM-2PEM2
Chromosome	X
Chromosome location	Xq11.1
Summary	The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of g

Show/Hide all (18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs55868891	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs56375542	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 3 prime UTR variant, intron variant, synonymous variant
rs121918361	C>G	Pathogenic	Coding sequence variant, intron variant, missense variant, 5 prime UTR variant
rs138198839	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs140777637	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs373866956	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs397514460	G>A,T	Pathogenic	Missense variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, coding sequence variant
rs869312941	G>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1135401795	G>A	Pathogenic	Coding sequence variant, stop gained
rs1556358991	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556389083	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1556401714	C>T	Pathogenic, likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1569458475	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569476483	C>T	Likely-pathogenic	Splice donor variant
rs1602253296	C>-	Pathogenic	Downstream transcript variant, coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1602253507	->T	Likely-pathogenic	Downstream transcript variant, coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1602491118	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1602577529	C>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, intron variant

139

Show/Hide all (139)

miRTarBase ID	miRNA	Experiments	Reference
MIRT608457	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT608456	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608455	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT608457	hsa-miR-4711-3p	HITS-CLIP	24906430
MIRT608456	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT608455	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT575829	hsa-miR-4711-3p	HITS-CLIP	27418678
MIRT575829	hsa-miR-4711-3p	HITS-CLIP	27418678
MIRT575827	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575827	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575828	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575828	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575829	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT575828	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT575827	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT796140	hsa-miR-1224-5p	CLIP-seq
MIRT796141	hsa-miR-154	CLIP-seq
MIRT796142	hsa-miR-3148	CLIP-seq
MIRT796143	hsa-miR-3545-3p	CLIP-seq
MIRT796144	hsa-miR-3605-5p	CLIP-seq
MIRT796145	hsa-miR-376c	CLIP-seq
MIRT796146	hsa-miR-3976	CLIP-seq
MIRT796147	hsa-miR-4260	CLIP-seq
MIRT796148	hsa-miR-4643	CLIP-seq
MIRT796149	hsa-miR-466	CLIP-seq
MIRT796150	hsa-miR-4668-5p	CLIP-seq
MIRT796151	hsa-miR-4680-5p	CLIP-seq
MIRT796152	hsa-miR-4728-3p	CLIP-seq
MIRT796153	hsa-miR-4751	CLIP-seq
MIRT796154	hsa-miR-4760-3p	CLIP-seq
MIRT796155	hsa-miR-4789-3p	CLIP-seq
MIRT796156	hsa-miR-4789-5p	CLIP-seq
MIRT796157	hsa-miR-486-3p	CLIP-seq
MIRT796158	hsa-miR-625	CLIP-seq
MIRT796159	hsa-miR-105	CLIP-seq
MIRT796160	hsa-miR-139-5p	CLIP-seq
MIRT796161	hsa-miR-15a	CLIP-seq
MIRT796162	hsa-miR-15b	CLIP-seq
MIRT796163	hsa-miR-16	CLIP-seq
MIRT796164	hsa-miR-195	CLIP-seq
MIRT796165	hsa-miR-224	CLIP-seq
MIRT796166	hsa-miR-2278	CLIP-seq
MIRT796167	hsa-miR-2467-3p	CLIP-seq
MIRT796168	hsa-miR-3128	CLIP-seq
MIRT796169	hsa-miR-3678-3p	CLIP-seq
MIRT796170	hsa-miR-3973	CLIP-seq
MIRT796171	hsa-miR-424	CLIP-seq
MIRT796172	hsa-miR-4470	CLIP-seq
MIRT796154	hsa-miR-4760-3p	CLIP-seq
MIRT796173	hsa-miR-497	CLIP-seq
MIRT796174	hsa-miR-520g	CLIP-seq
MIRT796175	hsa-miR-520h	CLIP-seq
MIRT796176	hsa-miR-548g	CLIP-seq
MIRT796177	hsa-miR-1197	CLIP-seq
MIRT796140	hsa-miR-1224-5p	CLIP-seq
MIRT796178	hsa-miR-186	CLIP-seq
MIRT796179	hsa-miR-3117-5p	CLIP-seq
MIRT796180	hsa-miR-3123	CLIP-seq
MIRT796181	hsa-miR-3136-5p	CLIP-seq
MIRT796142	hsa-miR-3148	CLIP-seq
MIRT796143	hsa-miR-3545-3p	CLIP-seq
MIRT796144	hsa-miR-3605-5p	CLIP-seq
MIRT796182	hsa-miR-3607-3p	CLIP-seq
MIRT796183	hsa-miR-3622b-5p	CLIP-seq
MIRT796184	hsa-miR-3686	CLIP-seq
MIRT796185	hsa-miR-4300	CLIP-seq
MIRT796186	hsa-miR-4311	CLIP-seq
MIRT796187	hsa-miR-4436a	CLIP-seq
MIRT796188	hsa-miR-4439	CLIP-seq
MIRT796189	hsa-miR-4513	CLIP-seq
MIRT796190	hsa-miR-4539	CLIP-seq
MIRT796150	hsa-miR-4668-5p	CLIP-seq
MIRT796191	hsa-miR-4694-3p	CLIP-seq
MIRT796192	hsa-miR-4704-3p	CLIP-seq
MIRT796193	hsa-miR-4724-5p	CLIP-seq
MIRT796152	hsa-miR-4728-3p	CLIP-seq
MIRT796153	hsa-miR-4751	CLIP-seq
MIRT796154	hsa-miR-4760-3p	CLIP-seq
MIRT796194	hsa-miR-4797-5p	CLIP-seq
MIRT796195	hsa-miR-514	CLIP-seq
MIRT796196	hsa-miR-514b-3p	CLIP-seq
MIRT796197	hsa-miR-522	CLIP-seq
MIRT796198	hsa-miR-577	CLIP-seq
MIRT796158	hsa-miR-625	CLIP-seq
MIRT796199	hsa-miR-920	CLIP-seq
MIRT1935117	hsa-miR-188-5p	CLIP-seq
MIRT1935118	hsa-miR-640	CLIP-seq
MIRT1935119	hsa-miR-513a-5p	CLIP-seq
MIRT796159	hsa-miR-105	CLIP-seq
MIRT2175168	hsa-miR-1208	CLIP-seq
MIRT2175169	hsa-miR-1285	CLIP-seq
MIRT796161	hsa-miR-15a	CLIP-seq
MIRT796162	hsa-miR-15b	CLIP-seq
MIRT796163	hsa-miR-16	CLIP-seq
MIRT796164	hsa-miR-195	CLIP-seq
MIRT796165	hsa-miR-224	CLIP-seq
MIRT796166	hsa-miR-2278	CLIP-seq
MIRT796167	hsa-miR-2467-3p	CLIP-seq
MIRT2175170	hsa-miR-3187-5p	CLIP-seq
MIRT2175171	hsa-miR-3663-5p	CLIP-seq
MIRT796169	hsa-miR-3678-3p	CLIP-seq
MIRT2175172	hsa-miR-3682-5p	CLIP-seq
MIRT796170	hsa-miR-3973	CLIP-seq
MIRT796171	hsa-miR-424	CLIP-seq
MIRT2175173	hsa-miR-4463	CLIP-seq
MIRT2175174	hsa-miR-4494	CLIP-seq
MIRT2175175	hsa-miR-4527	CLIP-seq
MIRT2175176	hsa-miR-4772-5p	CLIP-seq
MIRT796173	hsa-miR-497	CLIP-seq
MIRT1935119	hsa-miR-513a-5p	CLIP-seq
MIRT796174	hsa-miR-520g	CLIP-seq
MIRT796175	hsa-miR-520h	CLIP-seq
MIRT2175177	hsa-miR-612	CLIP-seq
MIRT2384443	hsa-miR-1324	CLIP-seq
MIRT2384444	hsa-miR-324-5p	CLIP-seq
MIRT1935119	hsa-miR-513a-5p	CLIP-seq
MIRT796186	hsa-miR-4311	CLIP-seq
MIRT2443966	hsa-miR-4768-3p	CLIP-seq
MIRT2478372	hsa-miR-1293	CLIP-seq
MIRT2478373	hsa-miR-200b	CLIP-seq
MIRT2478374	hsa-miR-200c	CLIP-seq
MIRT2478375	hsa-miR-2909	CLIP-seq
MIRT2478376	hsa-miR-338-5p	CLIP-seq
MIRT2478377	hsa-miR-3529	CLIP-seq
MIRT2478378	hsa-miR-3665	CLIP-seq
MIRT2478379	hsa-miR-3691-5p	CLIP-seq
MIRT2478380	hsa-miR-377	CLIP-seq
MIRT2478381	hsa-miR-379	CLIP-seq
MIRT2478382	hsa-miR-429	CLIP-seq
MIRT2478383	hsa-miR-4318	CLIP-seq
MIRT2478384	hsa-miR-4451	CLIP-seq
MIRT2478385	hsa-miR-4483	CLIP-seq
MIRT2478386	hsa-miR-4536	CLIP-seq
MIRT2478387	hsa-miR-4650-3p	CLIP-seq
MIRT2478388	hsa-miR-4693-5p	CLIP-seq
MIRT2478389	hsa-miR-4752	CLIP-seq
MIRT2478390	hsa-miR-590-3p	CLIP-seq
MIRT2478391	hsa-miR-657	CLIP-seq
MIRT2478392	hsa-miR-892a	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
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, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0045202	Component	Synapse	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0098982	Component	GABA-ergic synapse	IBA
GO:0099150	Process	Regulation of postsynaptic specialization assembly	IBA
GO:0099572	Component	Postsynaptic specialization	IBA

MIM	HGNC	e!Ensembl
300429	14561	ENSG00000131089

O43307

Protein name

Rho guanine nucleotide exchange factor 9 (Collybistin) (PEM-2 homolog) (Rac/Cdc42 guanine nucleotide exchange factor 9)

Protein function

Acts as a guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity).

PDB

2YSQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00018	SH3_1	14 → 59	SH3 domain	Domain
PF00621	RhoGEF	107 → 285	RhoGEF domain	Domain
PF00169	PH	316 → 425	PH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in brain. Detected at low levels in heart. {ECO:0000269|PubMed:10559246}.

Sequence

MTLLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPAS
FVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIK
HLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEI
GPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLL
TPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQW
QASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDIL
YYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAF
REERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQY
LVPDGIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK

Sequence length

516

Interactions

View interactions

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

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 (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ARHGEF9-related disorder	Pathogenic	rs782206262	RCV001787685	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ARHGEF9-related neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1602446549	RCV003128417	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 1	Likely pathogenic; Pathogenic	rs2048831313	RCV001824943	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 8	Likely pathogenic; Pathogenic	rs2052538764, rs2147218558, rs782206262, rs2147307979, rs2147266023, rs2519844189, rs2519728924, rs2519681429, rs2519460570, rs2519616140, rs869312941, rs2519728710, rs2520345214, rs2519903469, rs2519728574 View all (20 more)	RCV001333827 RCV001389751 RCV005095150 RCV001941610 RCV001904140 View all (31 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental disorder	Pathogenic	rs2519616140	RCV003126265	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs1135401795	RCV002286412	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2147307937	RCV002274313	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs2519503706	RCV005624448	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1569458475, rs2519503706	RCV005901639 RCV005912371	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (26)

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	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Likely benign; Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEREKPLEXIA EPILEPSY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEREKPLEXIA-EPILEPSY SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (48)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	GWASCAT_DG	28196072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	18615734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	18615734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	18615734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	34851771, 35638461	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23393157, 27238888, 30048823		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	25898924	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	30048823		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behavior Disorders	Behavior Disorders	BEFREE	27238888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	35638461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32503434	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35638461	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	21626670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	28620718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18615734, 21626670, 21633362, 23393157, 28620718, 29130122		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	Pubtator	18615734, 34851771, 35638461	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	29130122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	35638461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	17893116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36852158	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	19935739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperekplexia	Hyperekplexia	Pubtator	33842008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperekplexia and Epilepsy	Epileptic encephalopathy	BEFREE	15215304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperekplexia and Epilepsy	Epileptic encephalopathy	UNIPROT_DG	15215304, 22612257, 25678704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperekplexia and Epilepsy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	17893116, 21633362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperekplexia and Epilepsy	Epileptic encephalopathy	CLINVAR_DG	17893116, 18615734, 23033978, 25678704, 26834553, 28589176, 28708303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperekplexia and Epilepsy	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperekplexia-epilepsy syndrome	Hyperekplexia-Epilepsy Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	17893116, 18615734, 21626670, 21633362, 27238888, 28620718, 29130122		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	18615734, 20622020, 25898924, 34851771	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Learning Disabilities	Learning disorders	Pubtator	18615734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20335658, 31283007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	17893116, 18615734, 21626670, 21633362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	17893116, 21633362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	CTD_human_DG	21807943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	23393157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	27238888, 30048823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	34851771	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	20622020, 35638461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	34851771	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	21626670, 21633362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	27238888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9)