IQSEC2 (IQ motif and Sec7 domain ArfGEF 2)

Gene

• Entrez ID: 23096
• Gene name: IQ motif and Sec7 domain ArfGEF 2
• Gene symbol: IQSEC2
• Synonyms (NCBI Gene): BRAG1, IQ-ArfGEF, MRX1, MRX18, MRX78, XLID1
• Chromosome: X
• Chromosome location: Xp11.22
• Summary: This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organ

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs267607186	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs267607187	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs267607188	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs267607189	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs370573314	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs371450118	C>T	Conflicting-interpretations-of-pathogenicity, benign	Intron variant, coding sequence variant, synonymous variant, 3 prime UTR variant, genic downstream transcript variant
rs374220843	G>A,T	Likely-benign, benign, pathogenic	Coding sequence variant, downstream transcript variant, synonymous variant, stop gained, genic downstream transcript variant
rs587777261	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs781846571	G>A,C	Likely-pathogenic	Synonymous variant, stop gained, genic downstream transcript variant, intron variant, 3 prime UTR variant, coding sequence variant
rs781940286	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs782099475	G>A	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs782517076	C>A,G,T	Pathogenic	Stop gained, genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs782536136	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, intron variant, 3 prime UTR variant, coding sequence variant
rs782632137	C>G,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs782660318	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs782697291	G>A	Likely-pathogenic, benign	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs782748026	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs797044889	GC>-	Pathogenic	Inframe indel, genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs797044932	C>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs797045140	TG>-	Pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs797045629	T>C	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, synonymous variant, genic downstream transcript variant, intron variant, downstream transcript variant, coding sequence variant
rs797045630	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant, synonymous variant, genic downstream transcript variant, intron variant, downstream transcript variant, coding sequence variant
rs875989799	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs878853144	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs886041433	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs886041481	G>-	Likely-pathogenic, pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs886041767	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1057518993	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1057520858	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1057521657	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1060499660	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1064793152	T>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs1064793569	->GGTG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant, intron variant
rs1064795324	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant, intron variant
rs1064795421	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1064795460	G>A	Likely-pathogenic	Stop gained, downstream transcript variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, intron variant
rs1064795512	->C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant, intron variant
rs1064795725	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1064795806	G>A	Likely-pathogenic	Stop gained, downstream transcript variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, intron variant
rs1064796614	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1085307630	G>A,C	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, intron variant
rs1085307736	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1131691650	T>-	Pathogenic	Intron variant, downstream transcript variant, splice acceptor variant, genic downstream transcript variant
rs1131691887	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1556858900	A>G	Likely-pathogenic	Intron variant, 3 prime UTR variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1556858912	->GGCCT	Pathogenic	Intron variant, 3 prime UTR variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1556859257	G>A	Pathogenic	Intron variant, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant, stop gained, downstream transcript variant
rs1556860401	->C	Pathogenic	Genic downstream transcript variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1556861311	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1556862167	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1556862426	TAGGCACACCTGAAGG>-	Likely-pathogenic	Intron variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, splice donor variant
rs1556863043	C>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1556863090	C>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1556863165	->G	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1556863340	G>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1556863398	->G	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1556863435	GCCGG>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1556863492	TAGAGGGG>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1556865060	A>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1556880284	GCTGGCCCTCCAGCTCCTCGATGCGCCGCCGCTGGGTTTCCAGCAGCTGCTGCTGGCTCTCGATGATGTTGTTCAGCTCCAGCAGGTACTCCACGGC>AT	Pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1569290954	G>-,GG	Pathogenic	Coding sequence variant, intron variant, 3 prime UTR variant, frameshift variant, genic downstream transcript variant
rs1569291627	G>-	Likely-pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, intron variant, 3 prime UTR variant, genic downstream transcript variant
rs1569291654	G>A	Pathogenic	Downstream transcript variant, coding sequence variant, intron variant, stop gained, 3 prime UTR variant, genic downstream transcript variant
rs1569291699	G>A	Likely-pathogenic	Downstream transcript variant, coding sequence variant, intron variant, stop gained, 3 prime UTR variant, genic downstream transcript variant
rs1569300277	A>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1569302816	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1569305431	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602256663	->G	Likely-pathogenic	Coding sequence variant, intron variant, 3 prime UTR variant, frameshift variant, genic downstream transcript variant
rs1602257111	G>A	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, intron variant, 3 prime UTR variant, missense variant
rs1602257730	->G	Pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, intron variant, 3 prime UTR variant, genic downstream transcript variant
rs1602260263	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant, genic downstream transcript variant, downstream transcript variant
rs1602264294	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602268590	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs1602268620	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602277471	A>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1602277592	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602279457	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1602282739	C>G	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1602283534	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602284689	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1602291658	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1602291861	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602293475	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602293563	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602293823	->TAGGGGGGTT	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1602383045	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT487979	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT487978	hsa-miR-28-5p	PAR-CLIP	23592263
MIRT487977	hsa-miR-3139	PAR-CLIP	23592263
MIRT487976	hsa-miR-708-5p	PAR-CLIP	23592263
MIRT487975	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT487974	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT487973	hsa-miR-940	PAR-CLIP	23592263
MIRT487972	hsa-miR-1321	PAR-CLIP	23592263
MIRT487970	hsa-miR-4739	PAR-CLIP	23592263
MIRT487971	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT487969	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT487968	hsa-miR-1827	PAR-CLIP	23592263
MIRT487967	hsa-miR-4419a	PAR-CLIP	23592263
MIRT487966	hsa-miR-4510	PAR-CLIP	23592263
MIRT487965	hsa-miR-6127	PAR-CLIP	23592263
MIRT487964	hsa-miR-6129	PAR-CLIP	23592263
MIRT487963	hsa-miR-6130	PAR-CLIP	23592263
MIRT487962	hsa-miR-6133	PAR-CLIP	23592263
MIRT487961	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT487959	hsa-miR-8077	PAR-CLIP	23592263
MIRT487960	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT487958	hsa-miR-4306	PAR-CLIP	23592263
MIRT487957	hsa-miR-4644	PAR-CLIP	23592263
MIRT487956	hsa-miR-5192	PAR-CLIP	23592263
MIRT487955	hsa-miR-3612	PAR-CLIP	23592263
MIRT487954	hsa-miR-650	PAR-CLIP	23592263
MIRT487953	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT487951	hsa-miR-8085	PAR-CLIP	23592263
MIRT487952	hsa-miR-3175	PAR-CLIP	23592263
MIRT487950	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT487979	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT487978	hsa-miR-28-5p	PAR-CLIP	23592263
MIRT487977	hsa-miR-3139	PAR-CLIP	23592263
MIRT487976	hsa-miR-708-5p	PAR-CLIP	23592263
MIRT487975	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT487974	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT487973	hsa-miR-940	PAR-CLIP	23592263
MIRT487972	hsa-miR-1321	PAR-CLIP	23592263
MIRT487970	hsa-miR-4739	PAR-CLIP	23592263
MIRT487971	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT487969	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT487968	hsa-miR-1827	PAR-CLIP	23592263
MIRT487967	hsa-miR-4419a	PAR-CLIP	23592263
MIRT487966	hsa-miR-4510	PAR-CLIP	23592263
MIRT487965	hsa-miR-6127	PAR-CLIP	23592263
MIRT487964	hsa-miR-6129	PAR-CLIP	23592263
MIRT487963	hsa-miR-6130	PAR-CLIP	23592263
MIRT487962	hsa-miR-6133	PAR-CLIP	23592263
MIRT487961	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT487959	hsa-miR-8077	PAR-CLIP	23592263
MIRT487960	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT487958	hsa-miR-4306	PAR-CLIP	23592263
MIRT487957	hsa-miR-4644	PAR-CLIP	23592263
MIRT487956	hsa-miR-5192	PAR-CLIP	23592263
MIRT487955	hsa-miR-3612	PAR-CLIP	23592263
MIRT487954	hsa-miR-650	PAR-CLIP	23592263
MIRT487953	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT487951	hsa-miR-8085	PAR-CLIP	23592263
MIRT487952	hsa-miR-3175	PAR-CLIP	23592263
MIRT487950	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT1070242	hsa-miR-106a	CLIP-seq
MIRT1070243	hsa-miR-106b	CLIP-seq
MIRT1070244	hsa-miR-17	CLIP-seq
MIRT1070245	hsa-miR-20a	CLIP-seq
MIRT1070246	hsa-miR-20b	CLIP-seq
MIRT1070247	hsa-miR-33a	CLIP-seq
MIRT1070248	hsa-miR-33b	CLIP-seq
MIRT1070249	hsa-miR-342-3p	CLIP-seq
MIRT1070250	hsa-miR-3607-3p	CLIP-seq
MIRT1070251	hsa-miR-3609	CLIP-seq
MIRT1070252	hsa-miR-3670	CLIP-seq
MIRT1070253	hsa-miR-3686	CLIP-seq
MIRT1070254	hsa-miR-3689a-5p	CLIP-seq
MIRT1070255	hsa-miR-3689b	CLIP-seq
MIRT1070256	hsa-miR-3689e	CLIP-seq
MIRT1070257	hsa-miR-3689f	CLIP-seq
MIRT1070258	hsa-miR-377	CLIP-seq
MIRT1070259	hsa-miR-4796-3p	CLIP-seq
MIRT1070260	hsa-miR-511	CLIP-seq
MIRT1070261	hsa-miR-519a	CLIP-seq
MIRT1070262	hsa-miR-519b-3p	CLIP-seq
MIRT1070263	hsa-miR-519c-3p	CLIP-seq
MIRT1070264	hsa-miR-519d	CLIP-seq
MIRT1070265	hsa-miR-548ah	CLIP-seq
MIRT1070266	hsa-miR-93	CLIP-seq
MIRT1070267	hsa-miR-1184	CLIP-seq
MIRT1070268	hsa-miR-1252	CLIP-seq
MIRT1070269	hsa-miR-1284	CLIP-seq
MIRT1070270	hsa-miR-217	CLIP-seq
MIRT1070271	hsa-miR-3120-5p	CLIP-seq
MIRT1070272	hsa-miR-4418	CLIP-seq
MIRT1070273	hsa-miR-4796-5p	CLIP-seq
MIRT1070274	hsa-miR-509-3-5p	CLIP-seq
MIRT1070275	hsa-miR-509-5p	CLIP-seq
MIRT1070268	hsa-miR-1252	CLIP-seq
MIRT1070242	hsa-miR-106a	CLIP-seq
MIRT1070243	hsa-miR-106b	CLIP-seq
MIRT2017276	hsa-miR-135a	CLIP-seq
MIRT2017277	hsa-miR-135b	CLIP-seq
MIRT1070244	hsa-miR-17	CLIP-seq
MIRT1070245	hsa-miR-20a	CLIP-seq
MIRT1070246	hsa-miR-20b	CLIP-seq
MIRT1070247	hsa-miR-33a	CLIP-seq
MIRT1070248	hsa-miR-33b	CLIP-seq
MIRT1070250	hsa-miR-3607-3p	CLIP-seq
MIRT1070251	hsa-miR-3609	CLIP-seq
MIRT2017278	hsa-miR-3684	CLIP-seq
MIRT1070253	hsa-miR-3686	CLIP-seq
MIRT1070254	hsa-miR-3689a-5p	CLIP-seq
MIRT1070255	hsa-miR-3689b	CLIP-seq
MIRT1070256	hsa-miR-3689e	CLIP-seq
MIRT1070257	hsa-miR-3689f	CLIP-seq
MIRT2017279	hsa-miR-4446-3p	CLIP-seq
MIRT2017280	hsa-miR-4656	CLIP-seq
MIRT2017281	hsa-miR-4668-5p	CLIP-seq
MIRT2017282	hsa-miR-4685-5p	CLIP-seq
MIRT2017283	hsa-miR-4731-5p	CLIP-seq
MIRT2017284	hsa-miR-4749-3p	CLIP-seq
MIRT1070259	hsa-miR-4796-3p	CLIP-seq
MIRT1070260	hsa-miR-511	CLIP-seq
MIRT1070261	hsa-miR-519a	CLIP-seq
MIRT1070262	hsa-miR-519b-3p	CLIP-seq
MIRT1070263	hsa-miR-519c-3p	CLIP-seq
MIRT1070264	hsa-miR-519d	CLIP-seq
MIRT1070265	hsa-miR-548ah	CLIP-seq
MIRT2017285	hsa-miR-548t	CLIP-seq
MIRT1070266	hsa-miR-93	CLIP-seq
MIRT2249178	hsa-miR-185	CLIP-seq
MIRT2249179	hsa-miR-1915	CLIP-seq
MIRT2249180	hsa-miR-2355-5p	CLIP-seq
MIRT2249181	hsa-miR-31	CLIP-seq
MIRT1070271	hsa-miR-3120-5p	CLIP-seq
MIRT2017278	hsa-miR-3684	CLIP-seq
MIRT2249182	hsa-miR-378	CLIP-seq
MIRT2249183	hsa-miR-378b	CLIP-seq
MIRT2249184	hsa-miR-378c	CLIP-seq
MIRT2249185	hsa-miR-378d	CLIP-seq
MIRT2249186	hsa-miR-378e	CLIP-seq
MIRT2249187	hsa-miR-378f	CLIP-seq
MIRT2249188	hsa-miR-378h	CLIP-seq
MIRT2249189	hsa-miR-378i	CLIP-seq
MIRT2249190	hsa-miR-383	CLIP-seq
MIRT2249191	hsa-miR-422a	CLIP-seq
MIRT2249192	hsa-miR-4257	CLIP-seq
MIRT2249193	hsa-miR-4323	CLIP-seq
MIRT2017279	hsa-miR-4446-3p	CLIP-seq
MIRT2249194	hsa-miR-4638-3p	CLIP-seq
MIRT2249195	hsa-miR-4649-3p	CLIP-seq
MIRT2017281	hsa-miR-4668-5p	CLIP-seq
MIRT2017282	hsa-miR-4685-5p	CLIP-seq
MIRT2249196	hsa-miR-4717-5p	CLIP-seq
MIRT2249197	hsa-miR-4772-5p	CLIP-seq
MIRT1070259	hsa-miR-4796-3p	CLIP-seq
MIRT1070261	hsa-miR-519a	CLIP-seq
MIRT1070262	hsa-miR-519b-3p	CLIP-seq
MIRT1070263	hsa-miR-519c-3p	CLIP-seq
MIRT2017285	hsa-miR-548t	CLIP-seq
MIRT2249198	hsa-miR-708	CLIP-seq
MIRT1070268	hsa-miR-1252	CLIP-seq
MIRT2017283	hsa-miR-4731-5p	CLIP-seq

Gene ontology (GO)

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	IMP	26793055
GO:0005515	Function	Protein binding	IPI	30842726, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0032012	Process	Regulation of ARF protein signal transduction	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IDA	27009485
GO:0050804	Process	Modulation of chemical synaptic transmission	IMP	27009485
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IDA	27009485
GO:0098685	Component	Schaffer collateral - CA1 synapse	IMP	27009485
GO:0098696	Process	Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IDA	27009485
GO:0098696	Process	Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IMP	27009485
GO:1900454	Process	Positive regulation of long-term synaptic depression	IEA

Other IDs

• MIM: 300522
• HGNC: 29059
• e!Ensembl: ENSG00000124313

Protein

• UniProt ID: Q5JU85
• Protein name: IQ motif and SEC7 domain-containing protein 2
• Protein function: Is a guanine nucleotide exchange factor for the ARF GTP-binding proteins.
• PDB: 6FAE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01369	Sec7	753 → 941	Sec7 domain	Domain
  PF16453	IQ_SEC7_PH	961 → 1098	PH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, kidney and small intestine. Weakly expressed in placenta, pancreas, ovary, prostate and liver. {ECO:0000269|PubMed:9628581}.
• Sequence:

  MEAGSGPPGGPGSESPNRAVEYLLELNNIIESQQQLLETQRRRIEELEGQLDQLTQENRD
  LREESQLHRGELHRDPHGARDSPGRESQYQNLRETQFHHRELRESQFHQAARDVGYPNRE
  GAYQNREAVYRDKERDASYPLQDTTGYTARERDVAQCHLHHENPALGRERGGREAGPAHP
  GREKEAGYSAAVGVGPRPPRERGQLSRGASRSSSPGAGGGHSTSTSTSPATTLQRKSDGE
  NSRTVSVEGDAPGSDLSTAVDSPGSQPPYRLSQLPPSSSHMGGPPAGVGLPWAQRARLQP
  ASVALRKQEEEEIKRSKALSDSYELSTDLQDKKVEMLERKYGGSFLSRRAARTIQTAFRQ
  YRMNKNFERLRSSASESRMSRRIILSNMRMQFSFEEYEKAQNPAYFEGKPASLDEGAMAG
  ARSHRLERGLPYGGSCGGGIDGGGSSVTTSGEFSNDITELEDSFSKQVKSLAESIDEALN
  CHPSGPMSEEPGSAQLEKRESKEQQEDSSATSFSDLPLYLDDTVPQQSPERLPSTEPPPQ
  GRPEFWAPAPLPPVPPPVPSGTREDGSREEGTRRGPGCLECRDFRLRAAHLPLLTIEPPS
  DSSVDLSDRSDRGSVHRQLVYEADGCSPHGTLKHKGPPGRAPIPHRHYPAPEGPAPAPPG
  PLPPAPNSGTGPSGVAGGRRLGKCEAAGENSDGGDNESLESSSNSNETINCSSGSSSRDS
  LREPPATGLCKQTYQRETRHSWDSPAFNNDVVQRRHYRIGLNLFNKKPEKGIQYLIERGF
  LSDTPVGVAHFILERKGLSRQMIGEFLGNRQKQFNRDVLDCVVDEMDFSSMDLDDALRKF
  QSHIRVQGEAQKVERLIEAFSQRYCVCNPALVRQFRNPDTIFILAFAIILLNTDMYSPSV
  KAERKMKLDDFIKNLRGVDNGEDIPRDLLVGIYQRIQGRELRTNDDHVSQVQAVERMIVG
  KKPVLSLPHRRLVCCCQLYEVPDPNRPQRLGLHQREVFLFNDLLVVTKIFQKKKILVTYS
  FRQSFPLVEMHMQLFQNSYYQFGIKLLSAVPGGERKVLIIFNAPSLQDRLRFTSDLRESI
  AEVQEMEKYRVESELEKQKGMMRPNASQPGGAKDSVNGTMARSSLEDTYGAGDGLKRGAL
  SSSLRDLSDAGKRGRRNSVGSLDSTIEGSVISSPRPHQRMPPPPPPPPPEEYKSQRPVSN
  SSSFLGSLFGSKRGKGPFQMPPPPTGQASASSSSASSTHHHHHHHHHGHSHGGLGVLPDG
  QSKLQALHAQYCQGPGPAPPPYLPPQQPSLPPPPQQPPPLPQLGSIPPPPASAPPVGPHR
  HFHAHGPVPGPQHYTLGRPGRAPRRGAGGHPQFAPHGRHPLHQPTSPLPLYSPAPQHPPA
  HKQGPKHFIFSHHPQMMPAAGAAGGPGSRPPGGSYSHPHHPQSPLSPHSPIPPHPSYPPL
  PPPSPHTPHSPLPPTSPHGPLHASGPPGTANPPSANPKAKPSRISTVV

• Sequence length: 1488

Pathways

KEGG:

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autism	Likely pathogenic	rs1057518993	RCV000414794	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Likely pathogenic	rs1569305431	RCV000754664	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder, X-linked 108	Likely pathogenic	rs2519806355	RCV002288336	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs878853144, rs1602284689, rs2074317360, rs2074385548	RCV000224400 RCV000790432 RCV001260743 RCV001260740	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 1	Likely pathogenic; Pathogenic	rs2147010150, rs2146544783, rs2146999877, rs2147003883, rs1556859652, rs374220843, rs2147026571, rs2147032671, rs2147089642, rs1556863165, rs1556865104, rs2519840985, rs2147015547, rs2147096217, rs2147049209, rs2147096776, rs1064795512, rs2147000837, rs587777261, rs2147027403, rs2146999914, rs2146547822, rs2074117985, rs2147089995, rs2146548468, rs2147001369, rs1569300687, rs2147121012, rs2147000428, rs1569291627, rs2147010401, rs2147059978, rs2147103761, rs2147127449, rs2519674967, rs2519796610, rs2519714787, rs2519809935, rs797045140, rs2519808934, rs2519835312, rs886041767, rs2520588778, rs2520567227, rs2519771847, rs2519689195, rs2519704378, rs2147104281, rs875989799, rs2519780481, rs267607187, rs267607189, rs267607188, rs886041481, rs886041433, rs2519670968, rs2519840766, rs202076203, rs2520578180, rs2519688268, rs2519786494, rs2075426780, rs2519809836, rs2519673290, rs2519787344, rs2519851401, rs2519745279, rs2520563603, rs2519809669, rs2519798302, rs2519771482, rs1556870861, rs2074344245, rs368945951, rs782099475, rs1057520858, rs1057521657, rs1060499660, rs1131691887, rs1556863435, rs1556861311, rs1556863398, rs1556865060, rs1556858912, rs1556863340, rs1556863492, rs1556880284, rs1569302816, rs782660318, rs1569290954, rs1569291699, rs1569300277, rs782460038, rs1556859744, rs1569306667, rs1602284689, rs1602264294, rs1602291658, rs1602291861, rs1602383045, rs1602279457, rs1602283534, rs1602293475, rs2074091750, rs2074369642, rs2074383129, rs2074379209, rs2074381038, rs2074458024, rs2074443766, rs2074317360, rs2074374579, rs2074335019, rs2074181394, rs2074373583, rs2074335877, rs2074096700, rs2074254630	RCV001377901 RCV001376942 RCV001390466 RCV001380850 RCV001383066 RCV001388883 RCV001388306 RCV001390525 RCV001385215 RCV001384338 RCV002568212 RCV001578619 RCV001706777 RCV001724784 RCV001775531 RCV001783485 RCV001782306 RCV001782307 RCV000114357 RCV002542700 RCV001960652 RCV001907385 RCV002018656 RCV002007605 RCV001911939 RCV001947029 RCV001906985 RCV001930903 RCV001909957 RCV002250056 RCV002250057 RCV002250058 RCV002272929 RCV002275665 RCV002465440 RCV002466337 RCV002466338 RCV002472130 RCV000190894 RCV002843203 RCV002856559 RCV002870682 RCV002847425 RCV002867675 RCV002943509 RCV003006226 RCV003034932 RCV003041025 RCV000211090 RCV003152957 RCV000011610 RCV000011611 RCV000011612 RCV001251779 RCV000794024 RCV001449955 RCV003314142 RCV003510517 RCV003509840 RCV003510763 RCV003510929 RCV003511190 RCV003509456 RCV003510148 RCV003510285 RCV003510335 RCV003622565 RCV003622629 RCV003622858 RCV003622744 RCV003622962 RCV003990687 RCV004586433 RCV004595356 RCV004674054 RCV000796578 RCV000503313 RCV001048074 RCV000449548 RCV000697019 RCV001385379 RCV000501694 RCV000794238 RCV000540202 RCV000555522 RCV000547957 RCV000647960 RCV000647961 RCV000656408 RCV000686813 RCV000696297 RCV000695740 RCV000736088 RCV000736087 RCV000736086 RCV000760185 RCV000760217 RCV000760290 RCV000761242 RCV003117580 RCV000799992 RCV000791746 RCV000815576 RCV000811123 RCV000806617 RCV000990828 RCV000990829 RCV001065487 RCV001054863 RCV001065366 RCV001169943 RCV001224338 RCV001196313 RCV001222577 RCV001204697 RCV001241371 RCV001237969 RCV001251778 RCV001253475 RCV001258352 RCV001262289 RCV001264727 RCV001385380 RCV001290205	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Pathogenic	rs2147102426	RCV002274424	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs2147096217	RCV005925347	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraplegia-intellectual disability-hyperkeratosis syndrome	Pathogenic	rs2147027403	RCV003223429	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic	rs2519676038	RCV003384298	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual deficiency	Pathogenic; Likely pathogenic	rs886041481, rs1057518993	RCV000414905 RCV000414794	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2519835312, rs1602277471, rs2074437028	RCV005928617 RCV005912191 RCV005909313	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Undetermined early-onset epileptic encephalopathy	Pathogenic	rs2147000956	RCV001703294	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal brain morphology	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
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Involuntary movements	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IQSEC2-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IQSEC2-related X-linked neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 78	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SYNDROMIC X-LINKED INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE POSTNATAL MICROCEPHALY-MIDLINE STEREOTYPIC HAND MOVEMENTS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMITH-MAGENIS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Specific learning disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tip-toe gait	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	26733290	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	26059843	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	26059843		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	CLINVAR_DG	30763456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	30666632, 34535765, 36012761, 37078745	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	31234416		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	25649377, 26795593, 27476654, 27665735, 28295038, 30206421, 30666632, 35347702	Associate	★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	8661015		★☆☆☆☆ Found in Text Mining only
Chromosome Xp11.23-P11.22 Duplication Syndrome	Xp11.23-P11.22 Duplication Syndrome	ORPHANET_DG	26059843		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32529990	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	30666632	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26059843, 27010919, 30206421, 30666632, 35347702, 36012761	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	25649377, 30206421, 30279470		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	26795593, 27665735, 28295038, 30185235, 30206421, 30666632, 30977854, 34535765, 36012761, 37078745	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	27665735, 28295038, 30206421, 30328660, 30666632, 30842726, 31490346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Absence	Absence epilepsy	Pubtator	27665735, 34535765, 36842888	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	36842888	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	27665735, 28295038		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	36084525	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	32529990	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	8649811		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24306141, 30666632		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	26059843	Associate	★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	34535765	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	20473311, 23674175, 24306141, 25858702, 26059843, 26733290, 27010919, 27665735, 28295038, 28463240, 28815955, 30328660, 30842726, 31234416, 31490346		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	20473311, 23674175, 25649377, 26733290, 27009485, 27010919, 27665735, 28295038, 30206421, 30666632, 31906484, 32529990, 34535765, 35347702, 36012761, 37048050, 37078745	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Disorders	Language development disorders	Pubtator	27010919, 35347702	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	CLINVAR_DG	26733290		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	32529990	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	1605216		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	1605217, 31415821, 8661015		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	CTD_human_DG	20473311		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	BEFREE	1605216, 1605217		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	20473311		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	GENOMICS_ENGLAND_DG	20473311		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	CLINVAR_DG	20473311, 21686261, 23674175, 26733290, 26793055, 27009485, 27369185, 27652284, 27665735, 28815955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	UNIPROT_DG	20473311, 26793055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	CTD_human_DG	26793055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 78	Mental retardation	CTD_human_DG	26793055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	27010919, 30666632, 36012761	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microduplication Xp11.22p11.23 syndrome	Microduplication Xp11.22p11.23 Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG	26733290		★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG	26733290		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Skills Disorders	Motor skills disorder	Pubtator	29322350	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	8661015		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	27010919	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	25914188, 29322350, 31512412	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	29322350		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	32529990	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	30666632	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	27010919, 27665735, 30206421, 35347702	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	23674175, 25858702, 26733290		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG	26733290		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	Intellectual Disability Microcephaly-Midline Stereotypic Hand Movements Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	ORPHANET_DG	28213671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Smith-Magenis syndrome	Smith-Magenis Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Social Communication Disorder	Social Communication Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotypical hand wringing	Stereotypy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32908579	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	27665735	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★☆☆☆☆ Found in Text Mining only