NRXN1 (neurexin 1)

Gene

• Entrez ID: 9378
• Gene name: Neurexin 1
• Gene symbol: NRXN1
• Synonyms (NCBI Gene): Hs.22998, PTHSL2, SCZD17
• Disease Acronyms (UniProt): PTHSL2, SCZD17
• 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

SNPs

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

miRNA

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

Transcription factors

Transcription factor	Regulation	Reference
TCF4	Activation	22777675

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005246	Function	Calcium channel regulator activity	ISS
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	11152476
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	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	1621094
GO:0007158	Process	Neuron cell-cell adhesion	TAS	18923512
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	19896112
GO:0009986	Component	Cell surface	IDA	21424692
GO:0030534	Process	Adult behavior	IMP	19896112
GO:0031965	Component	Nuclear membrane	ISS
GO:0031982	Component	Vesicle	ISS
GO:0033130	Function	Acetylcholine receptor binding	ISS
GO:0035176	Process	Social behavior	IMP	18057082, 19896112
GO:0038023	Function	Signaling receptor activity	TAS	1621094
GO:0042297	Process	Vocal learning	IMP	19896112
GO:0042734	Component	Presynaptic membrane	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	ISS
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:0051965	Process	Positive regulation of synapse assembly	ISS
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISS	19822762
GO:0071625	Process	Vocalization behavior	IMP	18057082, 19896112
GO:0090129	Process	Positive regulation of synapse maturation	ISS
GO:0097104	Process	Postsynaptic membrane assembly	ISS
GO:0097109	Function	Neuroligin family protein binding	ISS
GO:0097116	Process	Gephyrin clustering involved in postsynaptic density assembly	ISS
GO:0097118	Process	Neuroligin clustering involved in postsynaptic membrane assembly	ISS
GO:0097119	Process	Postsynaptic density protein 95 clustering	ISS
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS	19822762

Other IDs

• MIM: 600565
• HGNC: 8008
• e!Ensembl: ENSG00000179915

Protein

• UniProt ID: 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
• UniProt ID: 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

Pathways

KEGG:

Cell adhesion molecules

Reactome:

Neurexins and neuroligins

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs371575563, rs1402429085, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	17362836
Autism	NON RARE IN EUROPE: Autism, Autistic Disorder, Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542	18621663, 17322880, 18057082, 20157312, 22617343, 23533028
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	18252227
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental regression	Developmental regression	rs1224421127
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	28736931
Epileptic encephalopathy	Epileptic encephalopathy	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Mental retardation	Profound Mental Retardation, Severe intellectual disability, Mental deficiency, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	18057082, 28191889
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	18057082
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829
Pitt-hopkins syndrome	PITT-HOPKINS SYNDROME	rs121909120, rs121909121, rs121909122, rs121909123, rs1600861681, rs398123560, rs398123561, rs587784462, rs587784460, rs587784459, rs587784458, rs587784470, rs587784469, rs587784468, rs587784466, rs587784465, rs587784464, rs587784463, rs727504175, rs727505396, rs796053429, rs796053430, rs796053418, rs797045003, rs797045072, rs797046035, rs797046034, rs797046033, rs797046036, rs863223404, rs863224934, rs878853149, rs1057518848, rs1057518864, rs1555782724, rs1057519592, rs1057521070, rs1057524821, rs1064796853, rs1131691735, rs1135401807, rs1555710127, rs1555796785, rs1555710069, rs1555710523, rs1555711245, rs1555718426, rs1555722023, rs1555717982, rs1555710726, rs1555710757, rs1555708227, rs1555789019, rs1555718354, rs1555764839, rs1555775233, rs1568303086, rs1568471940, rs1568509890, rs1568523662, rs1568620706, rs1568303352, rs1568331766, rs1568490874, rs1555718063, rs1568620774, rs1569138023, rs751190049, rs1555721921, rs1600285757, rs1600578193, rs1601260508, rs1599377405, rs1600275237, rs1599570613, rs1600504872, rs1600861021, rs1600866162, rs1603282307, rs1600865932, rs1555710223, rs1603483654, rs2047103931, rs2047106597, rs2059972276	19896112
Pitt-hopkins-like syndrome	PITT-HOPKINS-LIKE SYNDROME 2, Pitt-Hopkins-like syndrome	rs267606922, rs1201575289, rs1573629114, rs1575270894, rs1679958581, rs764621123	19896112, 22617343, 25149956, 21964664
Precocious puberty	Precocious Puberty	rs879255238, rs879255239, rs879255240, rs1264639964, rs1566764505
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	31374203, 21424692, 20157312, 21285140
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Celiac disease	Celiac Disease			ClinVar
Chromosome 2p16.3 deletion syndrome	CHROMOSOME 2p16.3 DELETION SYNDROME			ClinVar
Mental depression	Mental Depression, Depressive disorder		20162629	ClinVar
CHROMOSOME 2p16.3 DELETION SYNDROME	chromosome 2p16.3 deletion syndrome			GenCC
Neurodevelopmental Disorders	complex neurodevelopmental disorder			GenCC
Frontotemporal dementia	Frontotemporal dementia			GWAS
Cervical Cancer	Cervical Cancer	Our screens identified 10 miRNAs that enhance fitness of HeLa cells and have been reported to be up-regulated in cervical cancer (Table2).		GWAS, CBGDA
Metabolic Syndrome	Metabolic Syndrome			GWAS
Gout	Gout			GWAS
Mastocytosis	Mastocytosis			GWAS
Borderline personality disorder	Borderline personality disorder			GWAS
Rheumatic Heart Disease	Rheumatic Heart Disease			GWAS
Mental Depression	Mental Depression			GWAS
Dementia	Dementia			GWAS
Insomnia	Insomnia			GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA
Oligodendroglioma	Oligodendroglioma			GWAS
Coronary Heart Disease	Coronary Heart Disease			GWAS
Myocardial Infarction	Myocardial Infarction			GWAS
Dyslexia	Dyslexia			GWAS
Eosinophilia	Eosinophilia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	23772147
Adenocarcinoma of Lung	Associate	32672359
Alzheimer Disease	Associate	22486522, 36776048
Attention Deficit Disorder with Hyperactivity	Associate	31624239
Autism Spectrum Disorder	Associate	18179900, 18252227, 20468056, 21285140, 21647150, 21658581, 21687627, 22209245, 22617343, 22892527, 22952857, 23275889, 23849776, 23879678, 24832020, 29703944, 31759289, 31893021, 32658356, 32942984, 33476483, 33631419, 34525970, 39243986
Autistic Disorder	Associate	18945720, 18990708, 19404257, 19557195, 20468056, 20574149, 21477380, 21647150, 23375656, 23472757, 23474816, 23536886, 24204716, 24633560, 26216298, 26279266, 26438105, 27897003, 30076746, 30190612, 32658356, 36150388, 36197641
Brain Diseases	Associate	20574149
Breast Neoplasms	Associate	34932815
CHARGE Syndrome	Associate	23849776
Chromosome Aberrations	Associate	18179900
Chronic Kidney Disease Mineral and Bone Disorder	Associate	34670813
Colorectal Neoplasms	Associate	39518976
Communication Disorders	Associate	32942984
Congenital Abnormalities	Associate	21827697, 22617343, 26438105
Dermatitis Exfoliative	Associate	25950944
Developmental Disabilities	Associate	20468056, 22617343, 23472757, 23533600, 23536886, 24633560, 26216298, 27195815, 29179725, 31759289, 31893021, 32658356, 34525970
Diabetes Gestational	Associate	35721735
Disease	Associate	26279266, 27195815, 32122280, 32942984
Epilepsy	Associate	21285140, 21827697, 22617343, 24633560, 25950944, 28756411, 31759289, 31893021
Epilepsy Idiopathic Generalized	Associate	23294455, 25243798
Epilepsy Temporal Lobe	Associate	25243798
Esophageal atresia with or without tracheoesophageal fistula	Associate	36135330
Esophageal Squamous Cell Carcinoma	Associate	28694483
Fanconi Anemia	Associate	36135330
Gonadal Dysgenesis	Associate	26438105
Hirschsprung Disease	Associate	29622757
Inflammation	Associate	39243986
Intellectual Disability	Associate	18990708, 20468056, 21827697, 22617343, 24253858, 24633560, 24832020, 26216298, 26438105, 27195815, 31759289, 31893021, 32658356, 36197641
Intracranial Aneurysm	Associate	37041519
Language Development Disorders	Associate	20468056, 21827697, 22617343
Language Disorders	Associate	20574149
Learning Disabilities	Associate	20574149
Leukemia Myeloid Acute	Associate	30289875
Lung Neoplasms	Associate	23772147
Mental Disorders	Associate	18990708, 21827697, 22617343, 23294455, 24633560, 25950944, 26216298, 26438105, 30976086, 32122280, 32658356, 33631419, 36197641
Microcephaly	Associate	26438105
Muscle Hypotonia	Associate	20468056, 22617343
Nasopharyngeal Carcinoma	Associate	34544905
Neoplasms	Inhibit	20195527, 39518976
Nerve Degeneration	Associate	30902061
Neurobehavioral Manifestations	Associate	23472757
Night blindness congenital stationary	Associate	26216298
Obsessive Compulsive Disorder	Associate	29042551
Pathological Conditions Anatomical	Associate	22209245
Polypoidal Choroidal Vasculopathy	Associate	27195815
Prostatic Neoplasms	Associate	34911933
Psychotic Disorders	Associate	31530798
Sarcoma Ewing	Associate	34403115
Schizophrenia	Associate	18945720, 18990708, 20347009, 20468056, 21285140, 21477380, 21687627, 21827697, 22118685, 22617343, 22952857, 23536886, 24311552, 24633560, 26216298, 26279266, 26438105, 31759289, 31893021, 32942984
Stomach Neoplasms	Associate	27708434
Thyroid Neoplasms	Associate	34158819
Tobacco Use Disorder	Associate	20468056, 21477380
Tourette Syndrome	Associate	23533600, 28641109
Voice Disorders	Associate	24633560