AGAP1 (ArfGAP with GTPase domain, ankyrin repeat and PH domain 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 116987
• Gene name: ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
• Gene symbol: AGAP1
• Synonyms (NCBI Gene): AGAP-1, CENTG2, GGAP1, cnt-g2
• Chromosome: 2
• Chromosome location: 2q37.2
• Summary: This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple

miRNA Show/Hide all (214)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024193	hsa-miR-221-3p	Sequencing	20371350
MIRT043133	hsa-miR-324-5p	CLASH	23622248
MIRT036541	hsa-miR-1225-3p	CLASH	23622248
MIRT689071	hsa-miR-181d-3p	HITS-CLIP	23313552
MIRT689070	hsa-miR-5193	HITS-CLIP	23313552
MIRT689069	hsa-miR-4638-5p	HITS-CLIP	23313552
MIRT689068	hsa-miR-6869-3p	HITS-CLIP	23313552
MIRT689067	hsa-miR-3648	HITS-CLIP	23313552
MIRT648246	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT648245	hsa-miR-4643	HITS-CLIP	23824327
MIRT648244	hsa-miR-3941	HITS-CLIP	23824327
MIRT648243	hsa-miR-4672	HITS-CLIP	23824327
MIRT648242	hsa-miR-466	HITS-CLIP	23824327
MIRT648241	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT648240	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT648239	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT648238	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT513155	hsa-miR-498	PAR-CLIP	23446348
MIRT442222	hsa-miR-21-3p	PAR-CLIP	22291592
MIRT442221	hsa-miR-3591-3p	PAR-CLIP	22291592
MIRT442220	hsa-miR-3681-5p	PAR-CLIP	22291592
MIRT442219	hsa-miR-6849-5p	PAR-CLIP	22291592
MIRT442217	hsa-miR-6080	PAR-CLIP	22291592
MIRT442222	hsa-miR-21-3p	PAR-CLIP	22291592
MIRT442221	hsa-miR-3591-3p	PAR-CLIP	22291592
MIRT442220	hsa-miR-3681-5p	PAR-CLIP	22291592
MIRT442219	hsa-miR-6849-5p	PAR-CLIP	22291592
MIRT442217	hsa-miR-6080	PAR-CLIP	22291592
MIRT442222	hsa-miR-21-3p	PAR-CLIP	23708386
MIRT442221	hsa-miR-3591-3p	PAR-CLIP	23708386
MIRT442220	hsa-miR-3681-5p	PAR-CLIP	23708386
MIRT442219	hsa-miR-6849-5p	PAR-CLIP	23708386
MIRT442217	hsa-miR-6080	PAR-CLIP	23708386
MIRT459543	hsa-miR-4798-3p	PAR-CLIP	23592263
MIRT459541	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT459542	hsa-miR-4733-3p	PAR-CLIP	23592263
MIRT459540	hsa-miR-6077	PAR-CLIP	23592263
MIRT442222	hsa-miR-21-3p	PAR-CLIP	22100165
MIRT442221	hsa-miR-3591-3p	PAR-CLIP	22100165
MIRT442220	hsa-miR-3681-5p	PAR-CLIP	22100165
MIRT442219	hsa-miR-6849-5p	PAR-CLIP	22100165
MIRT442217	hsa-miR-6080	PAR-CLIP	22100165
MIRT443587	hsa-miR-8078	PAR-CLIP	22100165
MIRT442222	hsa-miR-21-3p	PAR-CLIP	22100165
MIRT442221	hsa-miR-3591-3p	PAR-CLIP	22100165
MIRT442220	hsa-miR-3681-5p	PAR-CLIP	22100165
MIRT442219	hsa-miR-6849-5p	PAR-CLIP	22100165
MIRT442217	hsa-miR-6080	PAR-CLIP	22100165
MIRT459542	hsa-miR-4733-3p	PAR-CLIP	26701625
MIRT459542	hsa-miR-4733-3p	PAR-CLIP	26701625
MIRT689071	hsa-miR-181d-3p	HITS-CLIP	23313552
MIRT689070	hsa-miR-5193	HITS-CLIP	23313552
MIRT689069	hsa-miR-4638-5p	HITS-CLIP	23313552
MIRT689068	hsa-miR-6869-3p	HITS-CLIP	23313552
MIRT689067	hsa-miR-3648	HITS-CLIP	23313552
MIRT648246	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT648245	hsa-miR-4643	HITS-CLIP	23824327
MIRT648244	hsa-miR-3941	HITS-CLIP	23824327
MIRT648243	hsa-miR-4672	HITS-CLIP	23824327
MIRT648242	hsa-miR-466	HITS-CLIP	23824327
MIRT648241	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT648240	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT648239	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT648238	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT513155	hsa-miR-498	PAR-CLIP	23446348
MIRT442222	hsa-miR-21-3p	PAR-CLIP	22291592
MIRT442221	hsa-miR-3591-3p	PAR-CLIP	22291592
MIRT442220	hsa-miR-3681-5p	PAR-CLIP	22291592
MIRT442219	hsa-miR-6849-5p	PAR-CLIP	22291592
MIRT442217	hsa-miR-6080	PAR-CLIP	22291592
MIRT442222	hsa-miR-21-3p	PAR-CLIP	22291592
MIRT442221	hsa-miR-3591-3p	PAR-CLIP	22291592
MIRT442220	hsa-miR-3681-5p	PAR-CLIP	22291592
MIRT442219	hsa-miR-6849-5p	PAR-CLIP	22291592
MIRT442217	hsa-miR-6080	PAR-CLIP	22291592
MIRT442222	hsa-miR-21-3p	PAR-CLIP	23708386
MIRT442221	hsa-miR-3591-3p	PAR-CLIP	23708386
MIRT442220	hsa-miR-3681-5p	PAR-CLIP	23708386
MIRT442219	hsa-miR-6849-5p	PAR-CLIP	23708386
MIRT442217	hsa-miR-6080	PAR-CLIP	23708386
MIRT459543	hsa-miR-4798-3p	PAR-CLIP	23592263
MIRT459541	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT459542	hsa-miR-4733-3p	PAR-CLIP	23592263
MIRT459540	hsa-miR-6077	PAR-CLIP	23592263
MIRT442222	hsa-miR-21-3p	PAR-CLIP	22100165
MIRT442221	hsa-miR-3591-3p	PAR-CLIP	22100165
MIRT442220	hsa-miR-3681-5p	PAR-CLIP	22100165
MIRT442219	hsa-miR-6849-5p	PAR-CLIP	22100165
MIRT442217	hsa-miR-6080	PAR-CLIP	22100165
MIRT443587	hsa-miR-8078	PAR-CLIP	22100165
MIRT442222	hsa-miR-21-3p	PAR-CLIP	22100165
MIRT442221	hsa-miR-3591-3p	PAR-CLIP	22100165
MIRT442220	hsa-miR-3681-5p	PAR-CLIP	22100165
MIRT442219	hsa-miR-6849-5p	PAR-CLIP	22100165
MIRT442217	hsa-miR-6080	PAR-CLIP	22100165
MIRT771569	hsa-miR-1227	CLIP-seq
MIRT771570	hsa-miR-1231	CLIP-seq
MIRT771571	hsa-miR-1238	CLIP-seq
MIRT771572	hsa-miR-1269	CLIP-seq
MIRT771573	hsa-miR-1269b	CLIP-seq
MIRT771574	hsa-miR-1272	CLIP-seq
MIRT771575	hsa-miR-1288	CLIP-seq
MIRT771576	hsa-miR-1303	CLIP-seq
MIRT771577	hsa-miR-188-5p	CLIP-seq
MIRT771578	hsa-miR-2113	CLIP-seq
MIRT771579	hsa-miR-3133	CLIP-seq
MIRT771580	hsa-miR-3148	CLIP-seq
MIRT771581	hsa-miR-3158-3p	CLIP-seq
MIRT771582	hsa-miR-3183	CLIP-seq
MIRT771583	hsa-miR-3192	CLIP-seq
MIRT771584	hsa-miR-3646	CLIP-seq
MIRT771585	hsa-miR-3675-3p	CLIP-seq
MIRT771586	hsa-miR-3907	CLIP-seq
MIRT771587	hsa-miR-4314	CLIP-seq
MIRT771588	hsa-miR-4436a	CLIP-seq
MIRT771589	hsa-miR-4515	CLIP-seq
MIRT771590	hsa-miR-4517	CLIP-seq
MIRT771591	hsa-miR-4520b-3p	CLIP-seq
MIRT771592	hsa-miR-4529-3p	CLIP-seq
MIRT771593	hsa-miR-4645-3p	CLIP-seq
MIRT771594	hsa-miR-4646-5p	CLIP-seq
MIRT771595	hsa-miR-4715-3p	CLIP-seq
MIRT771596	hsa-miR-4716-5p	CLIP-seq
MIRT771597	hsa-miR-4721	CLIP-seq
MIRT771598	hsa-miR-4723-3p	CLIP-seq
MIRT771599	hsa-miR-4731-5p	CLIP-seq
MIRT771600	hsa-miR-4740-5p	CLIP-seq
MIRT771601	hsa-miR-4753-3p	CLIP-seq
MIRT771602	hsa-miR-4780	CLIP-seq
MIRT771603	hsa-miR-488	CLIP-seq
MIRT771604	hsa-miR-582-5p	CLIP-seq
MIRT771605	hsa-miR-587	CLIP-seq
MIRT771606	hsa-miR-599	CLIP-seq
MIRT771607	hsa-miR-600	CLIP-seq
MIRT771608	hsa-miR-623	CLIP-seq
MIRT771609	hsa-miR-654-3p	CLIP-seq
MIRT771610	hsa-miR-9	CLIP-seq
MIRT771571	hsa-miR-1238	CLIP-seq
MIRT771572	hsa-miR-1269	CLIP-seq
MIRT771573	hsa-miR-1269b	CLIP-seq
MIRT771575	hsa-miR-1288	CLIP-seq
MIRT771582	hsa-miR-3183	CLIP-seq
MIRT771584	hsa-miR-3646	CLIP-seq
MIRT771589	hsa-miR-4515	CLIP-seq
MIRT771591	hsa-miR-4520b-3p	CLIP-seq
MIRT771592	hsa-miR-4529-3p	CLIP-seq
MIRT771598	hsa-miR-4723-3p	CLIP-seq
MIRT771600	hsa-miR-4740-5p	CLIP-seq
MIRT771601	hsa-miR-4753-3p	CLIP-seq
MIRT771610	hsa-miR-9	CLIP-seq
MIRT1545180	hsa-miR-1915	CLIP-seq
MIRT1545181	hsa-miR-4285	CLIP-seq
MIRT1545182	hsa-miR-4726-3p	CLIP-seq
MIRT1545183	hsa-miR-485-5p	CLIP-seq
MIRT1545184	hsa-miR-764	CLIP-seq
MIRT1927667	hsa-miR-1184	CLIP-seq
MIRT1927668	hsa-miR-1205	CLIP-seq
MIRT1927669	hsa-miR-1253	CLIP-seq
MIRT771574	hsa-miR-1272	CLIP-seq
MIRT1927670	hsa-miR-1273f	CLIP-seq
MIRT1927671	hsa-miR-1307	CLIP-seq
MIRT1927672	hsa-miR-134	CLIP-seq
MIRT1927673	hsa-miR-1468	CLIP-seq
MIRT1927674	hsa-miR-3118	CLIP-seq
MIRT771580	hsa-miR-3148	CLIP-seq
MIRT1927675	hsa-miR-3158-5p	CLIP-seq
MIRT1927676	hsa-miR-3160-5p	CLIP-seq
MIRT1927677	hsa-miR-3164	CLIP-seq
MIRT1927678	hsa-miR-34b	CLIP-seq
MIRT1927679	hsa-miR-3529	CLIP-seq
MIRT771584	hsa-miR-3646	CLIP-seq
MIRT1927680	hsa-miR-3671	CLIP-seq
MIRT771585	hsa-miR-3675-3p	CLIP-seq
MIRT1927681	hsa-miR-3690	CLIP-seq
MIRT1927682	hsa-miR-3691-3p	CLIP-seq
MIRT1927683	hsa-miR-379	CLIP-seq
MIRT1927684	hsa-miR-3913-3p	CLIP-seq
MIRT1927685	hsa-miR-3919	CLIP-seq
MIRT1927686	hsa-miR-4255	CLIP-seq
MIRT1927687	hsa-miR-4268	CLIP-seq
MIRT1545181	hsa-miR-4285	CLIP-seq
MIRT1927688	hsa-miR-4287	CLIP-seq
MIRT1927689	hsa-miR-4292	CLIP-seq
MIRT1927690	hsa-miR-4308	CLIP-seq
MIRT1927691	hsa-miR-4451	CLIP-seq
MIRT1927692	hsa-miR-4469	CLIP-seq
MIRT771590	hsa-miR-4517	CLIP-seq
MIRT1927693	hsa-miR-4520a-3p	CLIP-seq
MIRT1927694	hsa-miR-455-5p	CLIP-seq
MIRT1927695	hsa-miR-4638-3p	CLIP-seq
MIRT771593	hsa-miR-4645-3p	CLIP-seq
MIRT1927696	hsa-miR-4650-3p	CLIP-seq
MIRT1927697	hsa-miR-4659a-3p	CLIP-seq
MIRT1927698	hsa-miR-4659b-3p	CLIP-seq
MIRT1927699	hsa-miR-4676-5p	CLIP-seq
MIRT1927700	hsa-miR-4685-3p	CLIP-seq
MIRT1927701	hsa-miR-4713-5p	CLIP-seq
MIRT1927702	hsa-miR-4756-3p	CLIP-seq
MIRT1927703	hsa-miR-4762-3p	CLIP-seq
MIRT1927704	hsa-miR-4786-3p	CLIP-seq
MIRT1927705	hsa-miR-544	CLIP-seq
MIRT1927706	hsa-miR-575	CLIP-seq
MIRT771604	hsa-miR-582-5p	CLIP-seq
MIRT771607	hsa-miR-600	CLIP-seq
MIRT1927707	hsa-miR-630	CLIP-seq
MIRT1927708	hsa-miR-942	CLIP-seq
MIRT1927678	hsa-miR-34b	CLIP-seq
MIRT2168486	hsa-miR-3664-5p	CLIP-seq
MIRT1927680	hsa-miR-3671	CLIP-seq
MIRT1927684	hsa-miR-3913-3p	CLIP-seq
MIRT771590	hsa-miR-4517	CLIP-seq
MIRT1927699	hsa-miR-4676-5p	CLIP-seq
MIRT1927704	hsa-miR-4786-3p	CLIP-seq
MIRT1927706	hsa-miR-575	CLIP-seq

Gene ontology (GO) Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005525	Function	GTP binding	IEA
GO:0005543	Function	Phospholipid binding	IDA	18954304
GO:0005737	Component	Cytoplasm	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0015031	Process	Protein transport	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0098845	Component	Postsynaptic endosome	IEA
GO:0099159	Process	Regulation of modification of postsynaptic structure	IEA

Other IDs

• MIM: 608651
• HGNC: 16922
• e!Ensembl: ENSG00000157985

Protein

• UniProt ID: Q9UPQ3
• Protein name: Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 (AGAP-1) (Centaurin-gamma-2) (Cnt-g2) (GTP-binding and GTPase-activating protein 1) (GGAP1)
• Protein function: GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system.
• PDB: 7EB6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00071	Ras	73 → 231	Ras family	Domain
  PF01412	ArfGap	609 → 725	Putative GTPase activating protein for Arf	Domain
  PF12796	Ank_2	736 → 830	Ankyrin repeats (3 copies)	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12388557, ECO:0000269|PubMed:12640130, ECO:0000269|PubMed:15381706, ECO:0000269|PubMed:16079295}.
• Sequence:

  MNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERVEEPVLQNQIREHVIAIEDAFVNS
  QEWTLSRSVPELKVGIVGNLASGKSALVHRYLTGTYVQEESPEGGRFKKEIVVDGQSYLL
  LIRDEGGPPEAQFAMWVDAVIFVFSLEDEISFQTVYHYYSRMANYRNTSEIPLVLVGTQD
  AISSANPRVIDDARARKLSNDLKRCTYYETCATYGLNVERVFQDVAQKIVATRKKQQLSI
  GPCKSLPNSPSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPT
  ANTPTPVRKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIGSGRAIPIKQGMLLKRSGKS
  LNKEWKKKYVTLCDNGVLTYHPSLHDYMQNVHGKEIDLLRTTVKVPGKRPPRATSACAPI
  SSPKTNGLSKDMSSLHISPNSGNVTSASGSQMASGISLVSFNSRPDGMHQRSYSVSSADQ
  WSEATVIANSAISSDTGLGDSVCSSPSISSTTSPKLDPPPSPHANRKKHRRKKSTSNFKA
  DGLSGTAEEQEENFEFIIVSLTGQTWHFEATTYEERDAWVQAIESQILASLQSCESSKNK
  SRLTSQSEAMALQSIRNMRGNSHCVDCETQNPNWASLNLGALMCIECSGIHRNLGTHLSR
  VRSLDLDDWPVELIKVMSSIGNELANSVWEESSQGRTKPSVDSTREEKERWIRAKYEQKL
  FLAPLPCTELSLGQHLLRATADEDLRTAILLLAHGSRDEVNETCGEGDGRTALHLACRKG
  NVVLAQLLIWYGVDVTARDAHGNTALAYARQASSQECIDVLLQYGCPDERFVLMATPNLS
  RRNNNRNNSSGRVPTII

• Sequence length: 857

Pathways

KEGG Pathway:

Endocytosis

Associated diseases

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)

Unknown / Other Associations Show/Hide Unknown Diseases (22)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	34743297, 37985413	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	15892143	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	26516778	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DISEASE	—	GWAS catalog	40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL MICROSOMIA	—	GWAS catalog	26853712	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	39046104	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	30487263	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	30804565	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	34689653	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	29559693	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	28892059	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	21926974, 22688191, 31374203, 34380480, 35396580	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	38317187	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (14)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autistic Disorder	Autism	BEFREE	15892143, 30472483		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	15892143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	15892143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	15892143	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	26516778		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	34382870	Associate	★☆☆☆☆ Found in Text Mining only
Goldenhar Syndrome	Goldenhar Syndrome	GWASCAT_DG	26853712		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	26516778		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30472483		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	GWASCAT_DG	29559693		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37577760	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASCAT_DG	28892059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASDB_DG	19571809, 22688191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	22688191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ADGRF1 1 shared diseaseOrofacial cleft 2 shared evidence sourcesGWAS catalog (Orofacial cleft), GWAS catalog (Stroke) Related via 1 shared disease including Orofacial cleft — evidence mostly GWAS catalog. ASCL2 2 shared diseasesDiabetic retinopathy, Orofacial cleft 2 shared evidence sourcesGWAS catalog (Diabetic retinopathy), GWAS catalog (Orofacial cleft) Related via 2 shared diseases including Diabetic retinopathy, Orofacial cleft — evidence mostly GWAS catalog. THADA 2 shared diseasesDiabetic retinopathy, Orofacial cleft 2 shared evidence sourcesGWAS catalog (Diabetic retinopathy), GWAS catalog (Orofacial cleft) Related via 2 shared diseases including Diabetic retinopathy, Orofacial cleft — evidence mostly GWAS catalog. CDC123 1 shared diseaseDiabetic retinopathy 2 shared evidence sourcesGWAS catalog (Diabetic retinopathy), GWAS catalog (Stroke) Related via 1 shared disease including Diabetic retinopathy — evidence mostly GWAS catalog. TNFRSF21 1 shared diseaseOrofacial cleft 2 shared evidence sourcesGWAS catalog (Orofacial cleft), GWAS catalog (Stroke) Related via 1 shared disease including Orofacial cleft — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ADGRF1	1	["Orofacial cleft"]	0	[]	2	["GWAS catalog (Orofacial cleft)","GWAS catalog (Stroke)"]
ASCL2	2	["Diabetic retinopathy","Orofacial cleft"]	0	[]	2	["GWAS catalog (Diabetic retinopathy)","GWAS catalog (Orofacial cleft)"]
THADA	2	["Diabetic retinopathy","Orofacial cleft"]	0	[]	2	["GWAS catalog (Diabetic retinopathy)","GWAS catalog (Orofacial cleft)"]
CDC123	1	["Diabetic retinopathy"]	0	[]	2	["GWAS catalog (Diabetic retinopathy)","GWAS catalog (Stroke)"]
TNFRSF21	1	["Orofacial cleft"]	0	[]	2	["GWAS catalog (Orofacial cleft)","GWAS catalog (Stroke)"]

Diseases Linked via Similar Genes

Diabetes mellitus Linked via 3 of 5 related genesASCL2, THADA, CDC123 Diabetic eye disease Linked via 3 of 5 related genesASCL2, THADA, CDC123 Ankylosing spondylitis Linked via 2 of 5 related genesASCL2, THADA Crohn disease Linked via 2 of 5 related genesASCL2, THADA Diabetic neuropathy Linked via 2 of 5 related genesASCL2, CDC123

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Diabetes mellitus	3	["ASCL2","THADA","CDC123"]
Diabetic eye disease	3	["ASCL2","THADA","CDC123"]
Ankylosing spondylitis	2	["ASCL2","THADA"]
Crohn disease	2	["ASCL2","THADA"]
Diabetic neuropathy	2	["ASCL2","CDC123"]