CNTNAP2 (contactin associated protein 2)

Gene

• Entrez ID: 26047
• Gene name: Contactin associated protein 2
• Gene symbol: CNTNAP2
• Synonyms (NCBI Gene): AUTS15, CASPR2, CDFE, NRXN4, PTHSL1
• Disease Acronyms (UniProt): AUTS15, PTHSL1
• Chromosome: 7
• Chromosome location: 7q35-q36.1
• Summary: This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In add

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2710102	A>G,T	Risk-factor	Intron variant, genic downstream transcript variant
rs7794745	A>T	Risk-factor	Intron variant
rs73464271	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs78223661	T>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs121908445	T>C	Risk-factor, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs138481453	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs141439475	T>A,C	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs141831869	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs143286960	C>T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs144003099	C>A,T	Pathogenic	Synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs145162968	C>A,T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs146225600	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs147815978	G>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs148104020	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs148453565	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs149032771	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs149185385	T>C	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs150607716	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs187552025	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant
rs189731792	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200866893	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201076428	C>A,G,T	Pathogenic, uncertain-significance, likely-benign	Synonymous variant, missense variant, coding sequence variant, stop gained
rs201311931	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs201326295	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201446615	C>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs202095023	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs267601384	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs368108883	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs369675346	C>A,T	Pathogenic, conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, uncertain-significance	Intron variant
rs370095062	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Synonymous variant, coding sequence variant
rs371642222	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs371839994	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs372645983	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs398124268	G>A,T	Pathogenic	Stop gained, genic downstream transcript variant, missense variant, coding sequence variant
rs535454043	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, missense variant, coding sequence variant
rs562833882	T>C,G	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, synonymous variant
rs730880276	G>T	Pathogenic	Splice acceptor variant
rs748908765	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs752550849	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs758630057	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs760930032	A>G	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs770951811	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs773595457	T>C	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs774328147	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs796052374	C>G	Pathogenic	Coding sequence variant, stop gained
rs796052388	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs972116002	G>A	Pathogenic	Splice donor variant
rs1057520549	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057520743	C>G	Pathogenic	Stop gained, coding sequence variant
rs1064796071	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796221	AGTGACACAGCTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1085307838	A>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1159246607	C>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1391540245	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554400338	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554416016	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554440668	TATGG>GGGA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554490549	TG>-	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1584848275	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1585020100	CAAGTACTACT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1585151371	TCCT>CCC	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024222	hsa-miR-218-5p	Sequencing	20371350
MIRT044172	hsa-miR-99b-5p	CLASH	23622248
MIRT573937	hsa-miR-548u	PAR-CLIP	20371350
MIRT573936	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT573935	hsa-miR-8087	PAR-CLIP	20371350
MIRT573933	hsa-miR-4428	PAR-CLIP	20371350
MIRT573934	hsa-miR-571	PAR-CLIP	20371350
MIRT573932	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT573931	hsa-miR-6077	PAR-CLIP	20371350
MIRT573930	hsa-miR-185-5p	PAR-CLIP	20371350
MIRT573929	hsa-miR-4306	PAR-CLIP	20371350
MIRT573928	hsa-miR-4644	PAR-CLIP	20371350
MIRT573927	hsa-miR-6079	PAR-CLIP	20371350
MIRT573926	hsa-miR-4444	PAR-CLIP	20371350
MIRT024222	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT024222	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT573937	hsa-miR-548u	PAR-CLIP	20371350
MIRT573936	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT573935	hsa-miR-8087	PAR-CLIP	20371350
MIRT573933	hsa-miR-4428	PAR-CLIP	20371350
MIRT573934	hsa-miR-571	PAR-CLIP	20371350
MIRT573932	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT573931	hsa-miR-6077	PAR-CLIP	20371350
MIRT573930	hsa-miR-185-5p	PAR-CLIP	20371350
MIRT573929	hsa-miR-4306	PAR-CLIP	20371350
MIRT573928	hsa-miR-4644	PAR-CLIP	20371350
MIRT573927	hsa-miR-6079	PAR-CLIP	20371350
MIRT573926	hsa-miR-4444	PAR-CLIP	20371350
MIRT901754	hsa-miR-106a	CLIP-seq
MIRT901755	hsa-miR-106b	CLIP-seq
MIRT901756	hsa-miR-1207-3p	CLIP-seq
MIRT901757	hsa-miR-1228	CLIP-seq
MIRT901758	hsa-miR-125a-3p	CLIP-seq
MIRT901759	hsa-miR-1275	CLIP-seq
MIRT901760	hsa-miR-129-5p	CLIP-seq
MIRT901761	hsa-miR-1323	CLIP-seq
MIRT901762	hsa-miR-1470	CLIP-seq
MIRT901763	hsa-miR-148a	CLIP-seq
MIRT901764	hsa-miR-148b	CLIP-seq
MIRT901765	hsa-miR-152	CLIP-seq
MIRT901766	hsa-miR-17	CLIP-seq
MIRT901767	hsa-miR-181a	CLIP-seq
MIRT901768	hsa-miR-181b	CLIP-seq
MIRT901769	hsa-miR-181c	CLIP-seq
MIRT901770	hsa-miR-181d	CLIP-seq
MIRT901771	hsa-miR-1825	CLIP-seq
MIRT901772	hsa-miR-184	CLIP-seq
MIRT901773	hsa-miR-2052	CLIP-seq
MIRT901774	hsa-miR-20a	CLIP-seq
MIRT901775	hsa-miR-20b	CLIP-seq
MIRT901776	hsa-miR-2116	CLIP-seq
MIRT901777	hsa-miR-24	CLIP-seq
MIRT901778	hsa-miR-27a	CLIP-seq
MIRT901779	hsa-miR-27b	CLIP-seq
MIRT901780	hsa-miR-298	CLIP-seq
MIRT901781	hsa-miR-302a	CLIP-seq
MIRT901782	hsa-miR-302b	CLIP-seq
MIRT901783	hsa-miR-302c	CLIP-seq
MIRT901784	hsa-miR-302d	CLIP-seq
MIRT901785	hsa-miR-302e	CLIP-seq
MIRT901786	hsa-miR-3122	CLIP-seq
MIRT901787	hsa-miR-3125	CLIP-seq
MIRT901788	hsa-miR-3148	CLIP-seq
MIRT901789	hsa-miR-3150a-5p	CLIP-seq
MIRT901790	hsa-miR-3150b-5p	CLIP-seq
MIRT901791	hsa-miR-3153	CLIP-seq
MIRT901792	hsa-miR-3157-5p	CLIP-seq
MIRT901793	hsa-miR-342-3p	CLIP-seq
MIRT901794	hsa-miR-3613-3p	CLIP-seq
MIRT901795	hsa-miR-3614-5p	CLIP-seq
MIRT901796	hsa-miR-371-5p	CLIP-seq
MIRT901797	hsa-miR-371b-5p	CLIP-seq
MIRT901798	hsa-miR-372	CLIP-seq
MIRT901799	hsa-miR-373	CLIP-seq
MIRT901800	hsa-miR-3913-5p	CLIP-seq
MIRT901801	hsa-miR-3916	CLIP-seq
MIRT901802	hsa-miR-3928	CLIP-seq
MIRT901803	hsa-miR-3934	CLIP-seq
MIRT901804	hsa-miR-3938	CLIP-seq
MIRT901805	hsa-miR-4262	CLIP-seq
MIRT901806	hsa-miR-4284	CLIP-seq
MIRT901807	hsa-miR-4432	CLIP-seq
MIRT901808	hsa-miR-4433	CLIP-seq
MIRT901809	hsa-miR-4459	CLIP-seq
MIRT901810	hsa-miR-4477a	CLIP-seq
MIRT901811	hsa-miR-450b-5p	CLIP-seq
MIRT901812	hsa-miR-451b	CLIP-seq
MIRT901813	hsa-miR-4525	CLIP-seq
MIRT901814	hsa-miR-4659a-3p	CLIP-seq
MIRT901815	hsa-miR-4659b-3p	CLIP-seq
MIRT901816	hsa-miR-4665-5p	CLIP-seq
MIRT901817	hsa-miR-4667-3p	CLIP-seq
MIRT901818	hsa-miR-4668-5p	CLIP-seq
MIRT901819	hsa-miR-4696	CLIP-seq
MIRT901820	hsa-miR-4723-5p	CLIP-seq
MIRT901821	hsa-miR-4733-5p	CLIP-seq
MIRT901822	hsa-miR-4768-3p	CLIP-seq
MIRT901823	hsa-miR-4786-5p	CLIP-seq
MIRT901824	hsa-miR-4804-5p	CLIP-seq
MIRT901825	hsa-miR-508-5p	CLIP-seq
MIRT901826	hsa-miR-5096	CLIP-seq
MIRT901827	hsa-miR-513a-5p	CLIP-seq
MIRT901828	hsa-miR-519d	CLIP-seq
MIRT901829	hsa-miR-520a-3p	CLIP-seq
MIRT901830	hsa-miR-520b	CLIP-seq
MIRT901831	hsa-miR-520c-3p	CLIP-seq
MIRT901832	hsa-miR-520d-3p	CLIP-seq
MIRT901833	hsa-miR-520e	CLIP-seq
MIRT901834	hsa-miR-520f	CLIP-seq
MIRT901835	hsa-miR-548o	CLIP-seq
MIRT901836	hsa-miR-564	CLIP-seq
MIRT901837	hsa-miR-587	CLIP-seq
MIRT901838	hsa-miR-625	CLIP-seq
MIRT901839	hsa-miR-637	CLIP-seq
MIRT901840	hsa-miR-642a	CLIP-seq
MIRT901841	hsa-miR-659	CLIP-seq
MIRT901842	hsa-miR-661	CLIP-seq
MIRT901843	hsa-miR-764	CLIP-seq
MIRT901844	hsa-miR-766	CLIP-seq
MIRT901845	hsa-miR-93	CLIP-seq
MIRT1967476	hsa-miR-1	CLIP-seq
MIRT1967477	hsa-miR-1255a	CLIP-seq
MIRT1967478	hsa-miR-1255b	CLIP-seq
MIRT901759	hsa-miR-1275	CLIP-seq
MIRT1967479	hsa-miR-1281	CLIP-seq
MIRT1967480	hsa-miR-146a	CLIP-seq
MIRT1967481	hsa-miR-146b-5p	CLIP-seq
MIRT1967482	hsa-miR-1827	CLIP-seq
MIRT1967483	hsa-miR-206	CLIP-seq
MIRT1967484	hsa-miR-2113	CLIP-seq
MIRT1967485	hsa-miR-25	CLIP-seq
MIRT901778	hsa-miR-27a	CLIP-seq
MIRT901779	hsa-miR-27b	CLIP-seq
MIRT1967486	hsa-miR-3121-5p	CLIP-seq
MIRT901789	hsa-miR-3150a-5p	CLIP-seq
MIRT901790	hsa-miR-3150b-5p	CLIP-seq
MIRT1967487	hsa-miR-32	CLIP-seq
MIRT1967488	hsa-miR-3617	CLIP-seq
MIRT1967489	hsa-miR-363	CLIP-seq
MIRT1967490	hsa-miR-367	CLIP-seq
MIRT1967491	hsa-miR-3673	CLIP-seq
MIRT1967492	hsa-miR-3689a-3p	CLIP-seq
MIRT1967493	hsa-miR-3689c	CLIP-seq
MIRT1967494	hsa-miR-3924	CLIP-seq
MIRT1967495	hsa-miR-3929	CLIP-seq
MIRT1967496	hsa-miR-4419b	CLIP-seq
MIRT901807	hsa-miR-4432	CLIP-seq
MIRT1967497	hsa-miR-4478	CLIP-seq
MIRT901812	hsa-miR-451b	CLIP-seq
MIRT901813	hsa-miR-4525	CLIP-seq
MIRT1967498	hsa-miR-4649-3p	CLIP-seq
MIRT901816	hsa-miR-4665-5p	CLIP-seq
MIRT901819	hsa-miR-4696	CLIP-seq
MIRT1967499	hsa-miR-4722-5p	CLIP-seq
MIRT901820	hsa-miR-4723-5p	CLIP-seq
MIRT1967500	hsa-miR-4728-5p	CLIP-seq
MIRT901822	hsa-miR-4768-3p	CLIP-seq
MIRT1967501	hsa-miR-485-5p	CLIP-seq
MIRT901827	hsa-miR-513a-5p	CLIP-seq
MIRT1967502	hsa-miR-568	CLIP-seq
MIRT1967503	hsa-miR-582-3p	CLIP-seq
MIRT1967504	hsa-miR-589	CLIP-seq
MIRT1967505	hsa-miR-599	CLIP-seq
MIRT1967506	hsa-miR-613	CLIP-seq
MIRT901838	hsa-miR-625	CLIP-seq
MIRT901839	hsa-miR-637	CLIP-seq
MIRT1967507	hsa-miR-641	CLIP-seq
MIRT901842	hsa-miR-661	CLIP-seq
MIRT1967508	hsa-miR-890	CLIP-seq
MIRT1967509	hsa-miR-92a	CLIP-seq
MIRT1967510	hsa-miR-92b	CLIP-seq
MIRT1967511	hsa-miR-940	CLIP-seq
MIRT1967476	hsa-miR-1	CLIP-seq
MIRT2203204	hsa-miR-1197	CLIP-seq
MIRT901759	hsa-miR-1275	CLIP-seq
MIRT2203205	hsa-miR-1284	CLIP-seq
MIRT901760	hsa-miR-129-5p	CLIP-seq
MIRT2203206	hsa-miR-1301	CLIP-seq
MIRT2203207	hsa-miR-1304	CLIP-seq
MIRT2203208	hsa-miR-1305	CLIP-seq
MIRT901763	hsa-miR-148a	CLIP-seq
MIRT901764	hsa-miR-148b	CLIP-seq
MIRT901765	hsa-miR-152	CLIP-seq
MIRT901771	hsa-miR-1825	CLIP-seq
MIRT1967482	hsa-miR-1827	CLIP-seq
MIRT901772	hsa-miR-184	CLIP-seq
MIRT2203209	hsa-miR-1909	CLIP-seq
MIRT2203210	hsa-miR-194	CLIP-seq
MIRT2203211	hsa-miR-204	CLIP-seq
MIRT1967483	hsa-miR-206	CLIP-seq
MIRT2203212	hsa-miR-211	CLIP-seq
MIRT1967484	hsa-miR-2113	CLIP-seq
MIRT2203213	hsa-miR-218	CLIP-seq
MIRT901778	hsa-miR-27a	CLIP-seq
MIRT901779	hsa-miR-27b	CLIP-seq
MIRT2203214	hsa-miR-3074-5p	CLIP-seq
MIRT2203215	hsa-miR-3120-3p	CLIP-seq
MIRT2203216	hsa-miR-3126-3p	CLIP-seq
MIRT2203217	hsa-miR-3128	CLIP-seq
MIRT901788	hsa-miR-3148	CLIP-seq
MIRT2203218	hsa-miR-3164	CLIP-seq
MIRT901795	hsa-miR-3614-5p	CLIP-seq
MIRT2203219	hsa-miR-3616-3p	CLIP-seq
MIRT2203220	hsa-miR-3620	CLIP-seq
MIRT2203221	hsa-miR-3657	CLIP-seq
MIRT2203222	hsa-miR-3670	CLIP-seq
MIRT1967492	hsa-miR-3689a-3p	CLIP-seq
MIRT1967493	hsa-miR-3689c	CLIP-seq
MIRT2203223	hsa-miR-383	CLIP-seq
MIRT2203224	hsa-miR-3914	CLIP-seq
MIRT2203225	hsa-miR-3926	CLIP-seq
MIRT1967495	hsa-miR-3929	CLIP-seq
MIRT901804	hsa-miR-3938	CLIP-seq
MIRT2203226	hsa-miR-3942-5p	CLIP-seq
MIRT2203227	hsa-miR-4252	CLIP-seq
MIRT2203228	hsa-miR-4253	CLIP-seq
MIRT1967496	hsa-miR-4419b	CLIP-seq
MIRT901807	hsa-miR-4432	CLIP-seq
MIRT901808	hsa-miR-4433	CLIP-seq
MIRT2203229	hsa-miR-4453	CLIP-seq
MIRT901809	hsa-miR-4459	CLIP-seq
MIRT2203230	hsa-miR-4474-5p	CLIP-seq
MIRT1967497	hsa-miR-4478	CLIP-seq
MIRT2203231	hsa-miR-4487	CLIP-seq
MIRT901812	hsa-miR-451b	CLIP-seq
MIRT901813	hsa-miR-4525	CLIP-seq
MIRT2203232	hsa-miR-4538	CLIP-seq
MIRT1967498	hsa-miR-4649-3p	CLIP-seq
MIRT2203233	hsa-miR-4654	CLIP-seq
MIRT901816	hsa-miR-4665-5p	CLIP-seq
MIRT2203234	hsa-miR-4669	CLIP-seq
MIRT2203235	hsa-miR-4693-3p	CLIP-seq
MIRT901819	hsa-miR-4696	CLIP-seq
MIRT2203236	hsa-miR-4703-5p	CLIP-seq
MIRT2203237	hsa-miR-4704-3p	CLIP-seq
MIRT2203238	hsa-miR-4720-5p	CLIP-seq
MIRT2203239	hsa-miR-4721	CLIP-seq
MIRT901820	hsa-miR-4723-5p	CLIP-seq
MIRT1967500	hsa-miR-4728-5p	CLIP-seq
MIRT901821	hsa-miR-4733-5p	CLIP-seq
MIRT2203240	hsa-miR-4761-3p	CLIP-seq
MIRT901822	hsa-miR-4768-3p	CLIP-seq
MIRT2203241	hsa-miR-4769-5p	CLIP-seq
MIRT2203242	hsa-miR-4772-5p	CLIP-seq
MIRT2203243	hsa-miR-4773	CLIP-seq
MIRT2203244	hsa-miR-4774-5p	CLIP-seq
MIRT2203245	hsa-miR-4781-3p	CLIP-seq
MIRT901823	hsa-miR-4786-5p	CLIP-seq
MIRT2203246	hsa-miR-4795-3p	CLIP-seq
MIRT2203247	hsa-miR-4796-5p	CLIP-seq
MIRT2203248	hsa-miR-4799-3p	CLIP-seq
MIRT901824	hsa-miR-4804-5p	CLIP-seq
MIRT1967501	hsa-miR-485-5p	CLIP-seq
MIRT2203249	hsa-miR-5047	CLIP-seq
MIRT901825	hsa-miR-508-5p	CLIP-seq
MIRT901827	hsa-miR-513a-5p	CLIP-seq
MIRT2203250	hsa-miR-548c-3p	CLIP-seq
MIRT2203251	hsa-miR-548p	CLIP-seq
MIRT2203252	hsa-miR-548s	CLIP-seq
MIRT1967502	hsa-miR-568	CLIP-seq
MIRT901837	hsa-miR-587	CLIP-seq
MIRT2203253	hsa-miR-592	CLIP-seq
MIRT1967505	hsa-miR-599	CLIP-seq
MIRT1967506	hsa-miR-613	CLIP-seq
MIRT2203254	hsa-miR-622	CLIP-seq
MIRT901838	hsa-miR-625	CLIP-seq
MIRT2203255	hsa-miR-628-3p	CLIP-seq
MIRT2203256	hsa-miR-634	CLIP-seq
MIRT2203257	hsa-miR-635	CLIP-seq
MIRT901839	hsa-miR-637	CLIP-seq
MIRT2203258	hsa-miR-656	CLIP-seq
MIRT901842	hsa-miR-661	CLIP-seq
MIRT2203259	hsa-miR-758	CLIP-seq
MIRT2203260	hsa-miR-765	CLIP-seq
MIRT901844	hsa-miR-766	CLIP-seq
MIRT2203261	hsa-miR-802	CLIP-seq
MIRT2203262	hsa-miR-873	CLIP-seq
MIRT1967508	hsa-miR-890	CLIP-seq
MIRT1967511	hsa-miR-940	CLIP-seq
MIRT901756	hsa-miR-1207-3p	CLIP-seq
MIRT2203206	hsa-miR-1301	CLIP-seq
MIRT1967485	hsa-miR-25	CLIP-seq
MIRT1967487	hsa-miR-32	CLIP-seq
MIRT1967489	hsa-miR-363	CLIP-seq
MIRT1967490	hsa-miR-367	CLIP-seq
MIRT2386325	hsa-miR-4660	CLIP-seq
MIRT2203249	hsa-miR-5047	CLIP-seq
MIRT1967509	hsa-miR-92a	CLIP-seq
MIRT1967510	hsa-miR-92b	CLIP-seq
MIRT901761	hsa-miR-1323	CLIP-seq
MIRT901794	hsa-miR-3613-3p	CLIP-seq
MIRT901796	hsa-miR-371-5p	CLIP-seq
MIRT901797	hsa-miR-371b-5p	CLIP-seq
MIRT901807	hsa-miR-4432	CLIP-seq
MIRT901835	hsa-miR-548o	CLIP-seq
MIRT901759	hsa-miR-1275	CLIP-seq
MIRT901761	hsa-miR-1323	CLIP-seq
MIRT901763	hsa-miR-148a	CLIP-seq
MIRT901764	hsa-miR-148b	CLIP-seq
MIRT901765	hsa-miR-152	CLIP-seq
MIRT901771	hsa-miR-1825	CLIP-seq
MIRT901794	hsa-miR-3613-3p	CLIP-seq
MIRT901796	hsa-miR-371-5p	CLIP-seq
MIRT901797	hsa-miR-371b-5p	CLIP-seq
MIRT901807	hsa-miR-4432	CLIP-seq
MIRT901812	hsa-miR-451b	CLIP-seq
MIRT901813	hsa-miR-4525	CLIP-seq
MIRT901816	hsa-miR-4665-5p	CLIP-seq
MIRT901819	hsa-miR-4696	CLIP-seq
MIRT901820	hsa-miR-4723-5p	CLIP-seq
MIRT901825	hsa-miR-508-5p	CLIP-seq
MIRT901835	hsa-miR-548o	CLIP-seq
MIRT901838	hsa-miR-625	CLIP-seq
MIRT901839	hsa-miR-637	CLIP-seq
MIRT901842	hsa-miR-661	CLIP-seq
MIRT901844	hsa-miR-766	CLIP-seq
MIRT901759	hsa-miR-1275	CLIP-seq
MIRT901761	hsa-miR-1323	CLIP-seq
MIRT901763	hsa-miR-148a	CLIP-seq
MIRT901764	hsa-miR-148b	CLIP-seq
MIRT901765	hsa-miR-152	CLIP-seq
MIRT901771	hsa-miR-1825	CLIP-seq
MIRT901794	hsa-miR-3613-3p	CLIP-seq
MIRT901796	hsa-miR-371-5p	CLIP-seq
MIRT901797	hsa-miR-371b-5p	CLIP-seq
MIRT901807	hsa-miR-4432	CLIP-seq
MIRT901812	hsa-miR-451b	CLIP-seq
MIRT901813	hsa-miR-4525	CLIP-seq
MIRT901816	hsa-miR-4665-5p	CLIP-seq
MIRT901819	hsa-miR-4696	CLIP-seq
MIRT901820	hsa-miR-4723-5p	CLIP-seq
MIRT901825	hsa-miR-508-5p	CLIP-seq
MIRT901835	hsa-miR-548o	CLIP-seq
MIRT901838	hsa-miR-625	CLIP-seq
MIRT901839	hsa-miR-637	CLIP-seq
MIRT901842	hsa-miR-661	CLIP-seq
MIRT901844	hsa-miR-766	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXP2	Repression	18987364
FOXP2	Unknown	19582487
TCF4	Activation	22777675

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 26721881, 32296183
GO:0005769	Component	Early endosome	IDA	19706678
GO:0005794	Component	Golgi apparatus	IDA	19166515
GO:0007155	Process	Cell adhesion	IEA
GO:0007420	Process	Brain development	TAS	10624965
GO:0007612	Process	Learning	IMP	18179893
GO:0008038	Process	Neuron recognition	NAS	10624965
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	10624965
GO:0008076	Component	Voltage-gated potassium channel complex	NAS	10624965
GO:0009986	Component	Cell surface	IDA	19706678
GO:0016020	Component	Membrane	IDA	10624965
GO:0016021	Component	Integral component of membrane	NAS	11352571
GO:0019226	Process	Transmission of nerve impulse	NAS	11352571
GO:0019899	Function	Enzyme binding	IPI	19166515
GO:0021756	Process	Striatum development	IEP	18179893
GO:0021761	Process	Limbic system development	IEP	18179895
GO:0021794	Process	Thalamus development	IEP	18179893
GO:0021987	Process	Cerebral cortex development	IEP	18179893, 18987363
GO:0030424	Component	Axon	NAS	19706678
GO:0030425	Component	Dendrite	NAS	10624965
GO:0030534	Process	Adult behavior	IMP	18179893
GO:0030673	Component	Axolemma	IDA	19706678
GO:0031175	Process	Neuron projection development	ISS
GO:0033010	Component	Paranodal junction	IEA
GO:0035176	Process	Social behavior	IMP	18179893, 19896112
GO:0042297	Process	Vocal learning	IMP	19896112
GO:0043025	Component	Neuronal cell body	NAS	10624965
GO:0043204	Component	Perikaryon	NAS	19166515
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0045163	Process	Clustering of voltage-gated potassium channels	ISS
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0071109	Process	Superior temporal gyrus development	IEP	18179893
GO:0071205	Process	Protein localization to juxtaparanode region of axon	ISS
GO:0071625	Process	Vocalization behavior	IMP	18179893, 19896112

Other IDs

• MIM: 604569
• HGNC: 13830
• e!Ensembl: ENSG00000174469

Protein

• UniProt ID: Q9UHC6
• Protein name: Contactin-associated protein-like 2 (Cell recognition molecule Caspr2)
• Protein function: Required for gap junction formation (Probable). Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulse
• PDB: 5Y4M
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00754	F5_F8_type_C	47 → 178	F5/8 type C domain	Domain
  PF02210	Laminin_G_2	216 → 345	Laminin G domain	Domain
  PF02210	Laminin_G_2	401 → 529	Laminin G domain	Domain
  PF02210	Laminin_G_2	827 → 945	Laminin G domain	Domain
  PF02210	Laminin_G_2	1055 → 1187	Laminin G domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in nervous system. {ECO:0000269|PubMed:10624965}.
• Sequence:

  MQAAPRAGCGAALLLWIVSSCLCRAWTAPSTSQKCDEPLVSGLPHVAFSSSSSISGSYSP
  GYAKINKRGGAGGWSPSDSDHYQWLQVDFGNRKQISAIATQGRYSSSDWVTQYRMLYSDT
  GRNWKPYHQDGNIWAFPGNINSDGVVRHELQHPIIARYVRIVPLDWNGEGRIGLRIEVYG
  CSYWADVINFDGHVVLPYRFRNKKMKTLKDVIALNFKTSESEGVILHGEGQQGDYITLEL
  KKAKLVLSLNLGSNQLGPIYGHTSVMTGSLLDDHHWHSVVIERQGRSINLTLDRSMQHFR
  TNGEFDYLDLDYEITFGGIPFSGKPSSSSRKNFKGCMESINYNGVNITDLARRKKLEPSN
  VGNLSFSCVEPYTVPVFFNATSYLEVPGRLNQDLFSVSFQFRTWNPNGLLVFSHFADNLG
  NVEIDLTESKVGVHINITQTKMSQIDISSGSGLNDGQWHEVRFLAKENFAILTIDGDEAS
  AVRTNSPLQVKTGEKYFFGGFLNQMNNSSHSVLQPSFQGCMQLIQVDDQLVNLYEVAQRK
  PGSFANVSIDMCAIIDRCVPNHCEHGGKCSQTWDSFKCTCDETGYSGATCHNSIYEPSCE
  AYKHLGQTSNYYWIDPDGSGPLGPLKVYCNMTEDKVWTIVSHDLQMQTPVVGYNPEKYSV
  TQLVYSASMDQISAITDSAEYCEQYVSYFCKMSRLLNTPDGSPYTWWVGKANEKHYYWGG
  SGPGIQKCACGIERNCTDPKYYCNCDADYKQWRKDAGFLSYKDHLPVSQVVVGDTDRQGS
  EAKLSVGPLRCQGDRNYWNAASFPNPSSYLHFSTFQGETSADISFYFKTLTPWGVFLENM
  GKEDFIKLELKSATEVSFSFDVGNGPVEIVVRSPTPLNDDQWHRVTAERNVKQASLQVDR
  LPQQIRKAPTEGHTRLELYSQLFVGGAGGQQGFLGCIRSLRMNGVTLDLEERAKVTSGFI
  SGCSGHCTSYGTNCENGGKCLERYHGYSCDCSNTAYDGTFCNKDVGAFFEEGMWLRYNFQ
  APATNARDSSSRVDNAPDQQNSHPDLAQEEIRFSFSTTKAPCILLYISSFTTDFLAVLVK
  PTGSLQIRYNLGGTREPYNIDVDHRNMANGQPHSVNITRHEKTIFLKLDHYPSVSYHLPS
  SSDTLFNSPKSLFLGKVIETGKIDQEIHKYNTPGFTGCLSRVQFNQIAPLKAALRQTNAS
  AHVHIQGELVESNCGASPLTLSPMSSATDPWHLDHLDSASADFPYNPGQGQAIRNGVNRN
  SAIIGGVIAVVIFTILCTLVFLIRYMFRHKGTYHTNEAKGAESAESADAAIMNNDPNFTE
  TIDESKKEWLI

• Sequence length: 1331

Pathways

KEGG:

Cell adhesion molecules

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	26049409, 30617256, 31473137
Autism	NON RARE IN EUROPE: Autism, Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542	18621663, 18179894, 21310003, 22843504, 20157312
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	21962519, 30763456, 21082657, 20176116, 21572417
Cortical dysplasia-focal epilepsy syndrome	Cortical dysplasia-focal epilepsy syndrome	rs730880275, rs730880276, rs267601384, rs398124268, rs752550849, rs1085307838, rs149032771, rs1554400338, rs201076428, rs1554490549, rs771827120, rs1391540245, rs972116002, rs1584848275, rs1585020100, rs781574808, rs1159246607, rs766777011, rs746615217
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay, Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Epilepsy	Epilepsy, Epilepsy, Cryptogenic, Epilepsy, Rolandic, Awakening Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	20502679, 21962519, 29358611
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
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644	30104761
Mental retardation	Severe intellectual disability, 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
Lung carcinoma	Small cell carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	22941189
Parkinson disease	Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	25475535
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 1, Pitt-Hopkins-like syndrome	rs267606922, rs1201575289, rs1573629114, rs1575270894, rs1679958581, rs764621123	11568923, 16571880, 21827697
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	20157312
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Seizure	Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130
Stuttering	Stuttering, Familial Persistent 1	rs1555462184	21108403
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Celiac disease	Celiac Disease			ClinVar
Mental depression	Unipolar Depression, Major Depressive Disorder		23123147	ClinVar
Neurodevelopmental Disorders	complex neurodevelopmental disorder			GenCC
Tendinopathy	Tendinopathy			GWAS
Bipolar Disorder	Bipolar Disorder			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Crohn Disease	Crohn Disease			GWAS
Diabetes	Diabetes			GWAS
Dementia	Dementia			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA
Restless Legs Syndrome	Restless Legs Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	22872700, 27484312
Alzheimer Disease	Associate	37302762
Aphasia	Associate	26909962
Apraxias	Associate	21108403, 22738016
Atrophy	Associate	27484312
Attention Deficit Disorder with Hyperactivity	Associate	19546859, 34641913, 37667328
Autism Spectrum Disorder	Associate	20176116, 20838614, 21108403, 21193173, 22892527, 23074245, 26909962, 29703944, 30763456, 31993662, 32081867, 33076578, 34257739, 34271514, 34471112, 34641913, 34898614, 35454361, 35733350
Autistic Disorder	Associate	17978184, 18179879, 18179893, 18179894, 18987363, 19546859, 20176116, 20574149, 21048216, 21193173, 21310003, 21448237, 22500773, 22738016, 22843504, 22872700, 23074245, 23871450, 24147096, 24204716, 26843181, 26909962, 31993662, 34582124, 34641913, 34898614, 35733350, 37001843
Autistic Disorder	Inhibit	25444170
Autoimmune limbic encephalitis	Associate	38386048
Bipolar Disorder	Associate	27112568, 30586385
Brain Diseases	Associate	20574149, 34271514, 34471112
Breast Neoplasms	Associate	33126731
Charcot Marie Tooth Disease	Associate	25648254
Chronic Pain	Associate	38386048
Congenital Abnormalities	Associate	21827697
Cortical Dysplasia Focal Epilepsy Syndrome	Associate	30586385
Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema	Associate	29221444
Developmental Disabilities	Associate	20502679, 21048216, 23602712, 30017804, 31475484, 34582124, 37001843
Diabetes Mellitus	Associate	38386048
Diabetic Foot	Associate	34582124
Disease	Associate	30586385
Drug Resistant Epilepsy	Associate	38183825
Dyslexia	Associate	27484312, 28839234, 30017804, 37667328
Epilepsies Partial	Associate	16571880
Epilepsy	Associate	17978184, 21827697, 26843181, 26909962, 29261713, 30586385, 30763456, 34582124, 34641913, 37001843
Epilepsy Rolandic	Associate	22738016
Epilepsy Temporal Lobe	Associate	23871450
Epileptic Syndromes	Associate	22872700
Exfoliation Syndrome	Associate	20808326, 22690117
Exostoses	Associate	34582124
Focal cortical dysplasia of Taylor	Associate	40282380
Frontotemporal Dementia	Associate	27484312
Genetic Diseases Inborn	Associate	26843181, 34641913
Hemangioma	Associate	40416971
Immunologic Deficiency Syndromes	Associate	25045150, 29788256
Intellectual Disability	Associate	16571880, 21827697, 26843181, 30586385, 34641913, 34898614, 37001843, 40282380
Intraoperative Awareness	Associate	34271514
Isaacs Syndrome	Associate	28251919
Language Development Disorders	Associate	17978184, 18987363, 21310003, 21827697, 34582124, 35733350
Language Disorders	Associate	18987363, 20574149, 21048216, 21193173, 21310003, 23602712, 24807205, 26843181, 26909962, 30586385, 34257739, 34641913, 35733350
Learning Disabilities	Associate	20574149, 21827697
Limbic Encephalitis	Associate	39393351
Malformations of Cortical Development	Associate	16571880
Megalencephaly	Associate	16571880
Mental Disorders	Associate	21827697, 26909962
Muscle Hypotonia	Associate	34582124
Mutism	Associate	21193173
Myasthenia Gravis	Associate	28251919
Myelitis	Associate	28251919
Neoplasms	Associate	18535405, 35982066
Nerve Degeneration	Associate	33843981, 39393351
Neurologic Manifestations	Associate	34582124, 39393351
Neuromuscular Diseases	Associate	25648254
Nevus Sebaceous of Jadassohn	Associate	34471112
Oligodendroglioma	Associate	35982066
Pain	Associate	38386048
Pancreatic Neoplasms	Associate	18535405
Paraneoplastic Syndromes Nervous System	Associate	33843981
Peripheral Nervous System Diseases	Associate	38386048
Personality Disorders	Associate	16571880, 18957941
Phobia Social	Associate	21193173
Plaque Atherosclerotic	Associate	29221444
Precancerous Conditions	Associate	40416971
Psychomotor Agitation	Associate	34582124
Rhabdoid Tumor	Associate	24418192
Schizophrenia	Associate	19546859, 21827697, 23871450, 26843181, 26909962, 37001843
Seizures	Associate	34582124
Simosa cranio facial syndrome	Associate	34582124
Simpson Golabi Behmel syndrome	Associate	34471112
Social Communication Disorder	Associate	31993662
Somatoform Disorders	Associate	38386048
Specific Language Disorder	Associate	21310003, 24807205
Stereotypic Movement Disorder	Associate	34641913
Stuttering	Associate	21108403, 24807205
Substance Related Disorders	Associate	27484312
Thymoma	Associate	28251919
Tics	Associate	30763456
Tourette Syndrome	Associate	19546859