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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9378
Gene name	Neurexin 1
Gene symbol	NRXN1
Synonyms (NCBI Gene)	Hs.22998PTHSL2SCZD17
Chromosome	2
Chromosome location	2p16.3
Summary	This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This

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SNP ID	Visualize variation	Clinical significance	Consequence
rs55640811	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs55923848	T>C	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs56086732	G>T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs56402642	G>A	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, synonymous variant
rs75275592	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs80293130	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant, genic downstream transcript variant
rs143446587	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs143495349	C>A,T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs147580960	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs192909520	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs199546979	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained
rs199557987	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs199645252	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs199714221	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs199784029	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant
rs200113281	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs200182626	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs200672080	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs200698497	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs200935246	C>A,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs201029409	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs201118246	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs201212909	C>A,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs201481698	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs201485014	T>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs201727684	A>G	Benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs201818223	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs201837579	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs201941844	T>C	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs202043138	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs267606922	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained
rs563089155	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs587780407	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs587781101	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs750165040	GCCGCCGCCGCCGCCGCC>-,GCC,GCCGCC,GCCGCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, inframe insertion, inframe deletion, intron variant
rs767682431	G>A,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs771759988	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, splice acceptor variant
rs796052787	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs886042465	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs886042846	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs1002820022	G>A,T	Likely-pathogenic	Intron variant, stop gained, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs1057520406	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant, genic downstream transcript variant
rs1057521798	A>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1064795493	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1201575289	G>A	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant, intron variant
rs1476850082	A>G	Likely-pathogenic	Intron variant, splice donor variant, genic upstream transcript variant
rs1553368900	CACAATCCAGAAACCAACAAATGTTCAGAAAGAAGTTCAACTTACCATCTAACTTCAAGATGTACCCTATTAGTACTAAGAAATAAAGGACAAATGAGAGTTGGAAAAATAAGGTAGAAAGCACCCACCTTCCACATTGTTGTCTTCTGAAAGCACATGACAAGGAGGGAGAGAAAAGGAAAAACATTCATTAAGCAGCATGCAGACTGGACCTTGCCTTTGCATGTCTTCCTCATGCAAGGCACCAAACACATC	Likely-pathogenic	Splice acceptor variant, splice donor variant, genic upstream transcript variant, intron variant, coding sequence variant
rs1553400438	GTCAATGTCCTCATCA>TTAGGGACAC	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, inframe indel
rs1553535216	->A	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553759318	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1558507406	->CCGT	Risk-factor	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1558925686	AAGAT>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1573424393	T>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1573629114	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1574949440	C>A	Pathogenic	Splice acceptor variant, intron variant, genic upstream transcript variant
rs1575270894	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs1575277408	->ACCG	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT051233	hsa-miR-16-5p	CLASH	23622248
MIRT048156	hsa-miR-196a-5p	CLASH	23622248
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT687408	hsa-miR-6818-5p	HITS-CLIP	23313552
MIRT667163	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT667170	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT667169	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT667168	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT667167	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT667166	hsa-miR-8056	HITS-CLIP	23824327
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT667164	hsa-miR-4752	HITS-CLIP	23824327
MIRT667163	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623064	hsa-miR-548ac	HITS-CLIP	23824327
MIRT623063	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT623062	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT623061	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT623060	hsa-miR-548z	HITS-CLIP	23824327
MIRT623059	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623058	hsa-miR-3607-3p	HITS-CLIP	23824327
MIRT623057	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT623056	hsa-miR-1537-5p	HITS-CLIP	23824327
MIRT623055	hsa-miR-498	HITS-CLIP	23824327
MIRT623054	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT667167	hsa-miR-3691-5p	HITS-CLIP	27418678
MIRT667167	hsa-miR-3691-5p	HITS-CLIP	27418678
MIRT667167	hsa-miR-3691-5p	HITS-CLIP	27418678
MIRT667169	hsa-miR-376b-5p	HITS-CLIP	27418678
MIRT667169	hsa-miR-376b-5p	HITS-CLIP	27418678
MIRT667169	hsa-miR-376b-5p	HITS-CLIP	27418678
MIRT667168	hsa-miR-376c-5p	HITS-CLIP	27418678
MIRT667168	hsa-miR-376c-5p	HITS-CLIP	27418678
MIRT667168	hsa-miR-376c-5p	HITS-CLIP	27418678
MIRT667164	hsa-miR-4752	HITS-CLIP	27418678
MIRT667164	hsa-miR-4752	HITS-CLIP	27418678
MIRT667164	hsa-miR-4752	HITS-CLIP	27418678
MIRT667163	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT667163	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT667163	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT667163	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT667163	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT687408	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT667166	hsa-miR-8056	HITS-CLIP	27418678
MIRT667166	hsa-miR-8056	HITS-CLIP	27418678
MIRT667166	hsa-miR-8056	HITS-CLIP	27418678
MIRT667166	hsa-miR-8056	HITS-CLIP	27418678
MIRT667166	hsa-miR-8056	HITS-CLIP	27418678
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT687408	hsa-miR-6818-5p	HITS-CLIP	23313552
MIRT667163	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT667170	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT667169	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT667168	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT667167	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT667166	hsa-miR-8056	HITS-CLIP	23824327
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT667164	hsa-miR-4752	HITS-CLIP	23824327
MIRT667163	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623064	hsa-miR-548ac	HITS-CLIP	23824327
MIRT623063	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT623062	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT623061	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT623060	hsa-miR-548z	HITS-CLIP	23824327
MIRT623059	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623058	hsa-miR-3607-3p	HITS-CLIP	23824327
MIRT623057	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT623056	hsa-miR-1537-5p	HITS-CLIP	23824327
MIRT623055	hsa-miR-498	HITS-CLIP	23824327
MIRT623054	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT1194513	hsa-miR-1	CLIP-seq
MIRT1194514	hsa-miR-1257	CLIP-seq
MIRT1194515	hsa-miR-1264	CLIP-seq
MIRT1194516	hsa-miR-128	CLIP-seq
MIRT1194517	hsa-miR-1284	CLIP-seq
MIRT1194518	hsa-miR-129-5p	CLIP-seq
MIRT1194519	hsa-miR-198	CLIP-seq
MIRT1194520	hsa-miR-206	CLIP-seq
MIRT1194521	hsa-miR-27a	CLIP-seq
MIRT1194522	hsa-miR-27b	CLIP-seq
MIRT1194523	hsa-miR-297	CLIP-seq
MIRT1194524	hsa-miR-299-3p	CLIP-seq
MIRT1194525	hsa-miR-300	CLIP-seq
MIRT1194526	hsa-miR-3121-5p	CLIP-seq
MIRT1194527	hsa-miR-3124-3p	CLIP-seq
MIRT1194528	hsa-miR-3152-5p	CLIP-seq
MIRT1194529	hsa-miR-320a	CLIP-seq
MIRT1194530	hsa-miR-320b	CLIP-seq
MIRT1194531	hsa-miR-320c	CLIP-seq
MIRT1194532	hsa-miR-320d	CLIP-seq
MIRT1194533	hsa-miR-33a	CLIP-seq
MIRT1194534	hsa-miR-33b	CLIP-seq
MIRT1194535	hsa-miR-3606	CLIP-seq
MIRT1194536	hsa-miR-3613-3p	CLIP-seq
MIRT1194537	hsa-miR-3685	CLIP-seq
MIRT1194538	hsa-miR-381	CLIP-seq
MIRT1194539	hsa-miR-3920	CLIP-seq
MIRT1194540	hsa-miR-4326	CLIP-seq
MIRT1194541	hsa-miR-4429	CLIP-seq
MIRT1194542	hsa-miR-4438	CLIP-seq
MIRT1194543	hsa-miR-4491	CLIP-seq
MIRT1194544	hsa-miR-450b-5p	CLIP-seq
MIRT1194545	hsa-miR-455-3p	CLIP-seq
MIRT1194546	hsa-miR-4648	CLIP-seq
MIRT1194547	hsa-miR-4654	CLIP-seq
MIRT1194548	hsa-miR-4657	CLIP-seq
MIRT1194549	hsa-miR-4666-3p	CLIP-seq
MIRT1194550	hsa-miR-4731-3p	CLIP-seq
MIRT1194551	hsa-miR-4769-5p	CLIP-seq
MIRT1194552	hsa-miR-4774-3p	CLIP-seq
MIRT1194553	hsa-miR-4801	CLIP-seq
MIRT1194554	hsa-miR-495	CLIP-seq
MIRT1194555	hsa-miR-507	CLIP-seq
MIRT1194556	hsa-miR-557	CLIP-seq
MIRT1194557	hsa-miR-567	CLIP-seq
MIRT1194558	hsa-miR-613	CLIP-seq
MIRT1194559	hsa-miR-628-5p	CLIP-seq
MIRT1194560	hsa-miR-3919	CLIP-seq
MIRT1194561	hsa-miR-4756-3p	CLIP-seq
MIRT1194562	hsa-miR-103a	CLIP-seq
MIRT1194563	hsa-miR-107	CLIP-seq
MIRT1194516	hsa-miR-128	CLIP-seq
MIRT1194564	hsa-miR-1301	CLIP-seq
MIRT1194565	hsa-miR-181a	CLIP-seq
MIRT1194566	hsa-miR-181b	CLIP-seq
MIRT1194567	hsa-miR-181c	CLIP-seq
MIRT1194568	hsa-miR-181d	CLIP-seq
MIRT1194569	hsa-miR-18a	CLIP-seq
MIRT1194570	hsa-miR-18b	CLIP-seq
MIRT1194519	hsa-miR-198	CLIP-seq
MIRT1194521	hsa-miR-27a	CLIP-seq
MIRT1194522	hsa-miR-27b	CLIP-seq
MIRT1194571	hsa-miR-3149	CLIP-seq
MIRT1194572	hsa-miR-4262	CLIP-seq
MIRT1194573	hsa-miR-4424	CLIP-seq
MIRT1194545	hsa-miR-455-3p	CLIP-seq
MIRT1194574	hsa-miR-4735-3p	CLIP-seq
MIRT1194575	hsa-miR-5047	CLIP-seq
MIRT1194576	hsa-miR-562	CLIP-seq
MIRT1194577	hsa-miR-568	CLIP-seq
MIRT1194578	hsa-miR-627	CLIP-seq
MIRT1194579	hsa-miR-924	CLIP-seq
MIRT1194562	hsa-miR-103a	CLIP-seq
MIRT1194563	hsa-miR-107	CLIP-seq
MIRT2284987	hsa-miR-1224-5p	CLIP-seq
MIRT1194518	hsa-miR-129-5p	CLIP-seq
MIRT1194564	hsa-miR-1301	CLIP-seq
MIRT1194569	hsa-miR-18a	CLIP-seq
MIRT1194570	hsa-miR-18b	CLIP-seq
MIRT1194526	hsa-miR-3121-5p	CLIP-seq
MIRT1194528	hsa-miR-3152-5p	CLIP-seq
MIRT2284988	hsa-miR-3154	CLIP-seq
MIRT2284989	hsa-miR-330-3p	CLIP-seq
MIRT1194533	hsa-miR-33a	CLIP-seq
MIRT1194534	hsa-miR-33b	CLIP-seq
MIRT2284990	hsa-miR-377	CLIP-seq
MIRT2284991	hsa-miR-3915	CLIP-seq
MIRT1194539	hsa-miR-3920	CLIP-seq
MIRT1194573	hsa-miR-4424	CLIP-seq
MIRT1194544	hsa-miR-450b-5p	CLIP-seq
MIRT2284992	hsa-miR-4689	CLIP-seq
MIRT2284993	hsa-miR-4705	CLIP-seq
MIRT1194574	hsa-miR-4735-3p	CLIP-seq
MIRT1194552	hsa-miR-4774-3p	CLIP-seq
MIRT1194575	hsa-miR-5047	CLIP-seq
MIRT1194555	hsa-miR-507	CLIP-seq
MIRT1194556	hsa-miR-557	CLIP-seq
MIRT2284994	hsa-miR-587	CLIP-seq
MIRT1194559	hsa-miR-628-5p	CLIP-seq
MIRT2391762	hsa-miR-1297	CLIP-seq
MIRT2391763	hsa-miR-26a	CLIP-seq
MIRT2391764	hsa-miR-26b	CLIP-seq
MIRT2391765	hsa-miR-4465	CLIP-seq

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Transcription factor	Regulation	Reference
TCF4	Activation	22777675

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	ISS
GO:0004888	Function	Transmembrane signaling receptor activity	ISS
GO:0005102	Function	Signaling receptor binding	ISS
GO:0005105	Function	Type 1 fibroblast growth factor receptor binding	IDA	22750515
GO:0005246	Function	Calcium channel regulator activity	ISS
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	11152476, 18084303, 27418511, 30262834
GO:0005730	Component	Nucleolus	IDA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005886	Component	Plasma membrane	IC	21424692
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	1621094
GO:0007155	Process	Cell adhesion	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0007158	Process	Neuron cell-cell adhesion	IEA
GO:0007158	Process	Neuron cell-cell adhesion	ISS
GO:0007158	Process	Neuron cell-cell adhesion	NAS	16242404
GO:0007158	Process	Neuron cell-cell adhesion	TAS	15797875, 18923512
GO:0007165	Process	Signal transduction	ISS
GO:0007268	Process	Chemical synaptic transmission	ISS
GO:0007269	Process	Neurotransmitter secretion	ISS
GO:0007411	Process	Axon guidance	TAS	1621094
GO:0007416	Process	Synapse assembly	ISS
GO:0007612	Process	Learning	IMP	17034946, 19896112
GO:0009986	Component	Cell surface	IDA	21424692
GO:0009986	Component	Cell surface	ISS
GO:0010628	Process	Positive regulation of gene expression	IDA	26078884
GO:0010629	Process	Negative regulation of gene expression	IDA	26078884
GO:0016020	Component	Membrane	IEA
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS	18084303
GO:0021707	Process	Cerebellar granule cell differentiation	ISS
GO:0023041	Process	Neuronal signal transduction	TAS	15797875
GO:0030139	Component	Endocytic vesicle	ISS
GO:0030534	Process	Adult behavior	IEA
GO:0030534	Process	Adult behavior	IMP	17034946, 19896112
GO:0031175	Process	Neuron projection development	IGI	22750515
GO:0031594	Component	Neuromuscular junction	NAS	28194405
GO:0031965	Component	Nuclear membrane	ISS
GO:0031982	Component	Vesicle	ISS
GO:0032230	Process	Positive regulation of synaptic transmission, GABAergic	NAS	16846852
GO:0033130	Function	Acetylcholine receptor binding	ISS
GO:0035176	Process	Social behavior	IEA
GO:0035176	Process	Social behavior	IMP	17034946, 18057082, 19896112
GO:0035418	Process	Protein localization to synapse	ISS
GO:0038023	Function	Signaling receptor activity	TAS	1621094
GO:0042297	Process	Vocal learning	IEA
GO:0042297	Process	Vocal learning	IMP	19896112
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	ISS
GO:0042734	Component	Presynaptic membrane	TAS	15797875
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043950	Process	Positive regulation of cAMP-mediated signaling	IDA	26078884
GO:0044295	Component	Axonal growth cone	ISS
GO:0045184	Process	Establishment of protein localization	ISS
GO:0045202	Component	Synapse	IEA
GO:0045743	Process	Positive regulation of fibroblast growth factor receptor signaling pathway	IDA	22750515
GO:0046872	Function	Metal ion binding	IEA
GO:0048306	Function	Calcium-dependent protein binding	ISS
GO:0048812	Process	Neuron projection morphogenesis	NAS	29504935
GO:0050839	Function	Cell adhesion molecule binding	ISS
GO:0050885	Process	Neuromuscular process controlling balance	IMP	19896112
GO:0050885	Process	Neuromuscular process controlling balance	ISS	19822762
GO:0051490	Process	Negative regulation of filopodium assembly	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	26078884
GO:0051965	Process	Positive regulation of synapse assembly	ISS
GO:0051965	Process	Positive regulation of synapse assembly	TAS	15797875
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISS	19822762
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	NAS	16846852
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	26078884
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0071625	Process	Vocalization behavior	IEA
GO:0071625	Process	Vocalization behavior	IMP	17034946, 18057082, 19896112
GO:0090126	Process	Protein-containing complex assembly involved in synapse maturation	ISS
GO:0090129	Process	Positive regulation of synapse maturation	ISS
GO:0097091	Process	Synaptic vesicle clustering	ISS
GO:0097104	Process	Postsynaptic membrane assembly	ISS
GO:0097105	Process	Presynaptic membrane assembly	ISS
GO:0097109	Function	Neuroligin family protein binding	ISS
GO:0097109	Function	Neuroligin family protein binding	NAS	14522992
GO:0097112	Process	Gamma-aminobutyric acid receptor clustering	ISS
GO:0097114	Process	NMDA glutamate receptor clustering	ISS
GO:0097116	Process	Gephyrin clustering involved in postsynaptic density assembly	ISS
GO:0097117	Process	Guanylate kinase-associated protein clustering	ISS
GO:0097118	Process	Neuroligin clustering involved in postsynaptic membrane assembly	ISS
GO:0097119	Process	Postsynaptic density protein 95 clustering	ISS
GO:0097120	Process	Receptor localization to synapse	ISS
GO:0098635	Component	Protein complex involved in cell-cell adhesion	ISO
GO:0098635	Component	Protein complex involved in cell-cell adhesion	NAS	18084303
GO:0098793	Component	Presynapse	NAS	14522992
GO:0098820	Component	Trans-synaptic protein complex	IDA	27418511
GO:0098820	Component	Trans-synaptic protein complex	ISS
GO:0098978	Component	Glutamatergic synapse	NAS	16846852
GO:0098982	Component	GABA-ergic synapse	NAS	16846852
GO:0098989	Process	NMDA selective glutamate receptor signaling pathway	ISS
GO:0098990	Process	AMPA selective glutamate receptor signaling pathway	ISS
GO:1900075	Process	Positive regulation of neuromuscular synaptic transmission	NAS	28194405
GO:1900738	Process	Positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	26078884
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	ISS
GO:1905520	Process	Positive regulation of presynaptic active zone assembly	TAS	15797875
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS	19822762

MIM	HGNC	e!Ensembl
600565	8008	ENSG00000179915

P58400

Protein name

Neurexin-1-beta (Neurexin I-beta)

Protein function

Neuronal cell surface protein involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins (By similarity). Plays a role in formation of synaptic junctions (By similarity). Functions as part of

PDB

3B3Q , 5Z8Y

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02210	Laminin_G_2	121 → 270	Laminin G domain	Domain
PF01034	Syndecan	388 → 452	Syndecan domain	Family

Sequence

MYQRMLRCGAELGSPGGGGGGGGGGGAGGRLALLWIVPLTLSGLLGVAWGASSLGAHHIH
HFHGSSKHHSVPIAIYRSPASLRGGHAGTTYIFSKGGGQITYKWPPNDRPSTRADRLAIG
FSTVQKEAVLVRVDSSSGLGDYLELHIHQGKIGVKFNVGTDDIAIEESNAIINDGKYHVV
RFTRSGGNATLQVDSWPVIERYPAGNNDNERLAIARQRIPYRLGRVVDEWLLDKGRQLTI
FNSQATIIIGGKEQGQPFQGQLSGLYYNGLKVLNMAAENDANIAIVGNVRLVGEVPSSMT
TESTATAMQSEMSTSIMETTTTLATSTARRGKPPTKEPISQTTDDILVASAECPSDDEDI
DPCEPSSGGLANPTRAGGREPYPGSAEVIRESSSTTGMVVGIVAAAALCILILLYAMYKY
RNRDEGSYHVDESRNYISNSAQSNGAVVKEKQPSSAKSSNKNKKNKDKEYYV

Sequence length

472

Q9ULB1

Protein name

Neurexin-1 (Neurexin I-alpha) (Neurexin-1-alpha)

Protein function

Cell surface protein involved in cell-cell-interactions, exocytosis of secretory granules and regulation of signal transmission. Function is isoform-specific. Alpha-type isoforms have a long N-terminus with six laminin G-like domains and play an

PDB

6NID

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02210	Laminin_G_2	58 → 192	Laminin G domain	Domain
PF02210	Laminin_G_2	312 → 446	Laminin G domain	Domain
PF02210	Laminin_G_2	508 → 652	Laminin G domain	Domain
PF00008	EGF	680 → 711	EGF-like domain	Domain
PF02210	Laminin_G_2	746 → 877	Laminin G domain	Domain
PF02210	Laminin_G_2	933 → 1061	Laminin G domain	Domain
PF02210	Laminin_G_2	1156 → 1275	Laminin G domain	Domain
PF01034	Syndecan	1393 → 1453	Syndecan domain	Family

Tissue specificity

TISSUE SPECIFICITY: Brain. {ECO:0000269|PubMed:9628581}.

Sequence

MGTALLQRGGCFLLCLSLLLLGCWAELGSGLEFPGAEGQWTRFPKWNACCESEMSFQLKT
RSARGLVLYFDDEGFCDFLELILTRGGRLQLSFSIFCAEPATLLADTPVNDGAWHSVRIR
RQFRNTTLFIDQVEAKWVEVKSKRRDMTVFSGLFVGGLPPELRAAALKLTLASVREREPF
KGWIRDVRVNSSQVLPVDSGEVKLDDEPPNSGGGSPCEAGEEGEGGVCLNGGVCSVVDDQ
AVCDCSRTGFRGKDCSQEDNNVEGLAHLMMGDQGKSKGKEEYIATFKGSEYFCYDLSQNP
IQSSSDEITLSFKTLQRNGLMLHTGKSADYVNLALKNGAVSLVINLGSGAFEALVEPVNG
KFNDNAWHDVKVTRNLRQHSGIGHAMVTISVDGILTTTGYTQEDYTMLGSDDFFYVGGSP
STADLPGSPVSNNFMGCLKEVVYKNNDVRLELSRLAKQGDPKMKIHGVVAFKCENVATLD
PITFETPESFISLPKWNAKKTGSISFDFRTTEPNGLILFSHGKPRHQKDAKHPQMIKVDF
FAIEMLDGHLYLLLDMGSGTIKIKALLKKVNDGEWYHVDFQRDGRSGTISVNTLRTPYTA
PGESEILDLDDELYLGGLPENKAGLVFPTEVWTALLNYGYVGCIRDLFIDGQSKDIRQMA
EVQSTAGVKPSCSKETAKPCLSNPCKNNGMCRDGWNRYVCDCSGTGYLGRSCEREATVLS
YDGSMFMKIQLPVVMHTEAEDVSLRFRSQRAYGILMATTSRDSADTLRLELDAGRVKLTV
NLDCIRINCNSSKGPETLFAGYNLNDNEWHTVRVVRRGKSLKLTVDDQQAMTGQMAGDHT
RLEFHNIETGIITERRYLSSVPSNFIGHLQSLTFNGMAYIDLCKNGDIDYCELNARFGFR
NIIADPVTFKTKSSYVALATLQAYTSMHLFFQFKTTSLDGLILYNSGDGNDFIVVELVKG
YLHYVFDLGNGANLIKGSSNKPLNDNQWHNVMISRDTSNLHTVKIDTKITTQITAGARNL
DLKSDLYIGGVAKETYKSLPKLVHAKEGFQGCLASVDLNGRLPDLISDALFCNGQIERGC
EGPSTTCQEDSCSNQGVCLQQWDGFSCDCSMTSFSGPLCNDPGTTYIFSKGGGQITYKWP
PNDRPSTRADRLAIGFSTVQKEAVLVRVDSSSGLGDYLELHIHQGKIGVKFNVGTDDIAI
EESNAIINDGKYHVVRFTRSGGNATLQVDSWPVIERYPAGRQLTIFNSQATIIIGGKEQG
QPFQGQLSGLYYNGLKVLNMAAENDANIAIVGNVRLVGEVPSSMTTESTATAMQSEMSTS
IMETTTTLATSTARRGKPPTKEPISQTTDDILVASAECPSDDEDIDPCEPSSGGLANPTR
AGGREPYPGSAEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYHVDESRN
YISNSAQSNGAVVKEKQPSSAKSSNKNKKNKDKEYYV

Sequence length

1477

Interactions

View interactions

	KEGG		Reactome
	Cell adhesion molecules		Neurexins and neuroligins

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs1282230077, rs2466868754, rs774889610	RCV003322895 RCV003128042 RCV003128043	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1574949440	RCV000790431	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pitt-Hopkins-like syndrome 2	Likely pathogenic; Pathogenic	rs1558610072, rs1282230077, rs1359376928, rs2152697284, rs2152627014, rs2152626377, rs1285800435, rs2105317922, rs1388095672, rs756908062, rs2105207249, rs2105344238, rs1242147886, rs2466813017, rs2466834908 View all (25 more)	RCV001352900 RCV003619744 RCV001784758 RCV001782540 RCV001782541 View all (36 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (54)

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.
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CERVICAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 2p16.3 deletion syndrome	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet ClinVar, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex neurodevelopmental disorder	Uncertain significance	ClinVar CTD, ClinGen	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERNET ADDICTION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE DEVELOPMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILD INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILD MICROCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NRXN-related disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NRXN1-related disorder	Likely benign; Benign; Uncertain significance; not provided; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian dysgenesis 3	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pitt-Hopkins-like syndrome	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia 17	risk factor	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (128)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	20113834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22486522, 36776048	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	22486522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASDB_DG	17362836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asperger Syndrome	Asperger Syndrome	BEFREE	19545994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	31624239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	31624239		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Auditory Processing Disorder, Central	Auditory processing disorder	CTD_human_DG	20157312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	18179900, 18252227, 20468056, 21285140, 21647150, 21658581, 21687627, 22209245, 22617343, 22892527, 22952857, 23275889, 23849776, 23879678, 24832020 View all (9 more)	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18179900, 18252227, 19404257, 19432386, 20162629, 20468056, 21262241, 21424692, 21647150, 21658581, 21687627, 21827697, 21915259, 22209245, 22228009 View all (15 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	18252227		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	BEFREE	19896112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	CLINVAR_DG	22617343, 23533028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	17322880, 18057082, 18621663, 20157312		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	18179900, 18490107		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	18945720, 19880096, 20468056, 21626680, 21739571, 22106001, 22405623, 22504536, 22832527, 23472757, 23495017, 23536886, 23840597, 24064682, 24633560 View all (5 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	18945720, 18990708, 19404257, 19557195, 20468056, 20574149, 21477380, 21647150, 23375656, 23472757, 23474816, 23536886, 24204716, 24633560, 26216298 View all (8 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	21915259, 26297903		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	21915259, 24700553		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	20574149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34932815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	23849776		★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	Charge syndrome	Pubtator	23849776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CHROMOSOME 2p16.3 DELETION SYNDROME	CHROMOSOME 2p16.3 DELETION SYNDROME	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHROMOSOME 2p16.3 DELETION SYNDROME	CHROMOSOME 2p16.3 DELETION SYNDROME	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	23849776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39518976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	21827697, 22617343, 26438105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	18179900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	20162629, 31302032		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	20162629		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	20468056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	20468056, 22617343, 23472757, 23533600, 23536886, 24633560, 26216298, 27195815, 29179725, 31759289, 31893021, 32658356, 34525970	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35721735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	22337556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28736931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	22617343, 23495017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	21285140, 21827697, 22617343, 24633560, 25950944, 28756411, 31759289, 31893021	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	21964664, 22337556, 22617343, 23849776, 24633560, 25243798, 25950944, 31759289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	23294455, 25243798	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	25243798	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	28694483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	36135330	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	23849776		★★★★★ ★☆☆☆☆ 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
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	23533600, 28641109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	21964664, 23495017, 23536886, 26590955, 27195815, 31759289		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gluten intolerance	Gluten intolerance	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal dysgenesis	Pubtator	26438105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	29622757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	23294455, 25243798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23849776, 30936983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	18057082, 28191889		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	18990708, 20468056, 21827697, 22617343, 24253858, 24633560, 24832020, 26216298, 26438105, 27195815, 31759289, 31893021, 32658356, 36197641	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	19545994, 19896112, 22106001, 22337556, 22504536, 22617343, 24633560, 24832020, 24906019, 25131214, 25149956, 27195815		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	37041519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language Development Disorders	BEFREE	19896112		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Development Disorders	Language Development Disorders	CTD_human_DG	20157312		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Development Disorders	Language development disorders	Pubtator	20468056, 21827697, 22617343	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Disorders	Language development disorders	Pubtator	20574149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	20574149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30289875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23772147	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	18057082, 28191889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	20162629, 31302032		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	20162629		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	21739571, 22337556, 26563496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	19545994, 19896112, 22504536		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	24440292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	26438105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CTD_human_DG	18057082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28121444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	28121444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	34544905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	21262241, 21424692, 22504536, 23393157, 23472757, 23533028, 23533600, 23536886, 23840597, 24339137, 24633560, 25243798, 27195815, 29179725, 30358070, 31812984, 31823470 View all (2 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	26216298	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Autism	Autism	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	31530798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	18179900, 20162629, 23533028, 24832020, 26563496, 30031152, 31302032, 31823470		★★★★★ ★☆☆☆☆ Found in Text Mining only
PITT-HOPKINS SYNDROME	Pitt-Hopkins Syndrome	BEFREE	19896112, 20421335, 21827697, 22777675, 29221905		★★★★★ ★☆☆☆☆ Found in Text Mining only
PITT-HOPKINS SYNDROME	Pitt-Hopkins Syndrome	CTD_human_DG	19896112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pitt-Hopkins-like syndrome	Pitt-Hopkins-Like Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITT-HOPKINS-LIKE SYNDROME 2	Pitt-Hopkins-Like Syndrome	CLINVAR_DG	19896112, 21964664, 25149956		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PITT-HOPKINS-LIKE SYNDROME 2	Pitt-Hopkins-Like Syndrome	GENOMICS_ENGLAND_DG	22617343		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PITT-HOPKINS-LIKE SYNDROME 2	Pitt-Hopkins-Like Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Plagiocephaly	Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	20113834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	18057082, 28191889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34911933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	31530798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	31530798	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	34403115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17989066, 18940311, 18945720, 18990708, 19345090, 19658047, 19880096, 19896112, 20162629, 20347009, 20421335, 20860064, 20934321, 20967226, 21262241 View all (26 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	17989066		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	18945720, 18990708, 20347009, 20468056, 21285140, 21477380, 21687627, 21827697, 22118685, 22617343, 22952857, 23536886, 24311552, 24633560, 26216298 View all (5 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	20157312, 21285140, 21424692		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	BEFREE	21626680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	19896112, 21827697, 23533028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific language impairment	Specific Language Impairment	BEFREE	20157312, 20574149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	CTD_human_DG	20157312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	20162629, 22617343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27708434	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	34158819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	23533600, 28641109	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

NRXN1 (neurexin 1)