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
• 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:0001964	Process	Startle response	IEA
GO:0002020	Function	Protease binding	IEA
GO:0005515	Function	Protein binding	IPI	22872700, 25416956, 26721881, 32296183
GO:0005769	Component	Early endosome	IDA	19706678
GO:0005794	Component	Golgi apparatus	IDA	19166515
GO:0007155	Process	Cell adhesion	IEA
GO:0007417	Process	Central nervous system development	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:0008283	Process	Cell population proliferation	IDA	29028946
GO:0009986	Component	Cell surface	IDA	19706678
GO:0016020	Component	Membrane	IDA	10624965
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	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	IEA
GO:0030424	Component	Axon	NAS	19706678
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	NAS	10624965
GO:0030534	Process	Adult behavior	IMP	18179893
GO:0030673	Component	Axolemma	IDA	19706678
GO:0030673	Component	Axolemma	IEA
GO:0031175	Process	Neuron projection development	ISS
GO:0033010	Component	Paranodal junction	IEA
GO:0033270	Component	Paranode region of axon	IEA
GO:0035176	Process	Social behavior	IMP	18179893, 19896112
GO:0042297	Process	Vocal learning	IMP	19896112
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	NAS	10624965
GO:0043204	Component	Perikaryon	NAS	19166515
GO:0044224	Component	Juxtaparanode region of axon	IEA
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0045163	Process	Clustering of voltage-gated potassium channels	ISS
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0060134	Process	Prepulse inhibition	IEA
GO:0070161	Component	Anchoring junction	IEA
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
GO:0097060	Component	Synaptic membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:1903598	Process	Positive regulation of gap junction assembly	IMP	33238150

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autism spectrum disorder	Likely pathogenic	rs1396313317	RCV000754684	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism, susceptibility to, 15	Likely pathogenic; Pathogenic	rs371512835, rs771827120, rs1391540245	RCV005040449 RCV004586780 RCV005046829	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cortical dysplasia-focal epilepsy syndrome	Pathogenic; Likely pathogenic	rs398124268, rs2129185949, rs1247068015, rs1805809633, rs771533907, rs2116752243, rs749575477, rs2116608214, rs767408882, rs371512835, rs2116924115, rs2116789389, rs1458942108, rs1801395870, rs1799910521, rs2116691068, rs2129279551, rs2129282705, rs2129279519, rs2116638179, rs2129279547, rs2536301748, rs1220885838, rs752550849, rs730880275, rs730880276, rs2485881102, rs2485901377, rs2536656862, rs2536593200, rs2485901451, rs2536697565, rs2535854030, rs2485923443, rs2485755924, rs2485547571, rs2485922676, rs2485692231, rs761596436, rs1795923815, rs991842796, rs748180430, rs2485922583, rs2535940744, rs1085307838, rs149032771, rs1554400338, rs201076428, rs1554490549, rs771827120, rs1391540245, rs972116002, rs1584848275, rs1585020100, rs781574808, rs1159246607, rs766777011, rs746615217, rs267601384, rs1794916576, rs1799307071, rs986848347, rs1797490749, rs1176180722, rs772883080	RCV000701675 RCV001379813 RCV001389440 RCV001386313 RCV001859355 RCV001788509 RCV001780520 RCV001872168 RCV001969610 RCV001877348 RCV001893466 RCV001933843 RCV001878964 RCV002002482 RCV001888958 RCV001958658 RCV001952902 RCV001953595 RCV002052269 RCV002266452 RCV002273167 RCV003098614 RCV002465410 RCV000541323 RCV000005825 RCV000005830 RCV002816355 RCV002843220 RCV002811767 RCV003015787 RCV003055532 RCV003123352 RCV003123353 RCV003494065 RCV003505823 RCV003504828 RCV003505684 RCV003505685 RCV003505571 RCV003613739 RCV003613773 RCV003614647 RCV003614964 RCV003615004 RCV001856908 RCV000505263 RCV000505266 RCV000505262 RCV000553929 RCV000559447 RCV000644701 RCV000791002 RCV000806203 RCV000987993 RCV000991388 RCV003117678 RCV001049033 RCV001064169 RCV003114237 RCV001196340 RCV001218741 RCV001201543 RCV001251138 RCV001251137 RCV003614084	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs1584757170	RCV001260691	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs1433216677	RCV002274435	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pitt-Hopkins-like syndrome	Pathogenic	rs2536567810	RCV002471930	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNTNAP2-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNTNAP2-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLON CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACTIN ASSOCIATED PROTEIN 2-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET ALZHEIMERS DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal-onset seizure	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gait imbalance	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperactivity	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE DEVELOPMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSION, SINGLE EPISODE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECTUM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT MAJOR DEPRESSIVE EPISODES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Self-limited epilepsy with centrotemporal spikes	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE IMPAIRMENT 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE IMPAIRMENT 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE IMPAIRMENT 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE IMPAIRMENT 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE IMPAIRMENT 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Neuromyotonia	Acquired Neuromyotonia	BEFREE	29244234, 30724344		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37302762	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	26049409		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26049409, 30617256, 31473137		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	21216876		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	26909962	Associate	★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	26097074		★☆☆☆☆ Found in Text Mining only
Apraxia, Verbal	Apraxia	BEFREE	24807205		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	21108403, 22738016	Associate	★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	27698429, 29028946		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	27698429, 29028946		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	27484312	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	19546859, 34641913, 37667328	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	20446882, 30376466		★☆☆☆☆ Found in Text Mining only
Auditory Processing Disorder, Central	Auditory processing disorder	CTD_human_DG	20157312, 21082657, 21310003		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	20176116, 20838614, 21108403, 21193173, 22892527, 23074245, 26909962, 29703944, 30763456, 31993662, 32081867, 33076578, 34257739, 34271514, 34471112, 34641913, 34898614, 35454361, 35733350	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18179895, 19348707, 19582487, 20446882, 21082657, 21108403, 21193173, 21827697, 21962519, 21987501, 22365836, 22843504, 22872700, 23074245, 23714751, 24147096, 25224256, 25977097, 26273832, 26559825, 26833134, 26909962, 27698429, 28115688, 28115996, 28184409, 28358038, 28364455, 29028946, 29429934, 29610457, 29703944, 29788201, 30116174, 30376466, 30681286, 30816216, 31141683, 31653345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	20176116, 21082657, 21572417, 21962519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CLINVAR_DG	30763456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	BEFREE	19896112		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	18179879, 18179893, 18179894, 18179895, 18675947, 19302947, 20176116, 20414140, 21048216, 21310003, 21987501, 22872700, 23074245, 23123147, 23277129, 23871450, 24147096, 25444170, 25621974, 25918374, 26273832, 26559825, 26843181, 26909962, 27916731, 28184409, 28284582, 28572274, 28738218, 30028556, 30586385, 30681286, 30816216, 30843029, 31141683, 31768051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	18179894, 18512134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	18179894, 18621663, 20157312, 21310003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	GWASDB_DG	22843504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	25444170	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28248701, 29264691, 30028556, 30076629, 31352183		★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	20502679, 21962519		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	20889312		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	20889312		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	27112568, 30586385	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	20574149, 34271514, 34471112	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33126731	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	38386048	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	19889080		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	21827697	Associate	★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	16571880, 28364455		★☆☆☆☆ Found in Text Mining only
Cortical dysplasia with focal epilepsy syndrome	Cortical Dysplasia With Focal Epilepsy Syndrome	ORPHANET_DG	16571880		★☆☆☆☆ Found in Text Mining only
Cortical dysplasia with focal epilepsy syndrome	Cortical Dysplasia With Focal Epilepsy Syndrome	GENOMICS_ENGLAND_DG	16571880		★☆☆☆☆ Found in Text Mining only
Cortical dysplasia with focal epilepsy syndrome	Cortical Dysplasia With Focal Epilepsy Syndrome	BEFREE	30586385		★☆☆☆☆ Found in Text Mining only
Cortical dysplasia with focal epilepsy syndrome	Cortical Dysplasia With Focal Epilepsy Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cortical dysplasia-focal epilepsy syndrome	Cortical Dysplasia-Focal Epilepsy Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema	Hereditary xerocytosis	Pubtator	29221444	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	GWASCAT_DG	31473137		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	20502679, 21048216, 23602712, 30017804, 31475484, 34582124, 37001843	Associate	★☆☆☆☆ Found in Text Mining only
Developmental reading disorder	Developmental dyslexia	BEFREE	30017804		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	38386048	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	34582124	Associate	★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	21165691, 23714751, 24769279		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	27484312, 28839234, 30017804, 37667328	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	21387375, 27786401, 28248701, 28418022, 30671012, 30843029, 31331752, 31352183, 31507515, 31630242, 31782181		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	27432809		★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	16571880	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	16571880, 17646849, 28364455		★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	LHGDN	16571880		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17646849, 19302947, 21962519, 23518707, 25918374, 27439707, 28184409, 29179159, 30028556, 31782181		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	LHGDN	17646849		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	Pubtator	17978184, 21827697, 26843181, 26909962, 29261713, 30586385, 30763456, 34582124, 34641913, 37001843	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	CTD_human_DG	20502679, 21962519		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy Rolandic	Rolandic epilepsy	Pubtator	22738016	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	23871450	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	20502679, 21962519		★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	30391660, 31176559		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	20808326, 22690117, 23157966, 29260496		★☆☆☆☆ Found in Text Mining only
Exostoses	Exostoses	Pubtator	34582124	Associate	★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	40282380	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	27484312	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	12809671, 17392702, 19582487		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	LHGDN	12809671		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	GWASCAT_DG	30104761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	20711234		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gluten intolerance	Gluten intolerance	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	18496130		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	30337146		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	17646849		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	16571880, 21827697, 26843181, 30586385, 34641913, 34898614, 37001843, 40282380	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	19896112, 23714751, 25918374, 26843181, 27439707, 28572274, 29610457, 30586385, 30843029		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isaacs syndrome	Isaacs Syndrome	BEFREE	20580615, 21387375, 27432809, 27957617, 28115470, 28251919, 28438465, 28682959, 29097081, 29244234, 29264691, 30242309, 30714278		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	17978184, 18987363, 21310003, 21827697, 34582124, 35733350	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Development Disorders	Language Development Disorders	BEFREE	19896112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Development Disorders	Language Development Disorders	CTD_human_DG	20157312, 21082657, 21310003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Disorders	Language development disorders	Pubtator	18987363, 20574149, 21048216, 21193173, 21310003, 23602712, 24807205, 26843181, 26909962, 30586385, 34257739, 34641913, 35733350	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	21987501, 23123147, 23228431, 23714751, 27916731		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	30267217		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	20574149, 21827697	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	19889080		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27432809		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	23123147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	23123147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Malformation of cortical development	LHGDN	16571880		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	16571880	Associate	★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	26843181		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory Disorders	BEFREE	31176559		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	GWASDB_DG	20889312		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	GWASCAT_DG	20889312		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30586385		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	26909962		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	19896112, 28572274		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	28284337		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	27262149		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	26070930		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	28251919		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	28251919	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20663977, 20711234, 31352183		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	17392702, 23714751, 30671012, 30843029		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	21048216, 21962519, 22365836, 24434791, 26559825, 28184409, 28572274, 29610457, 30017804, 30028556, 31475484		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	25648254	Associate	★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	18957941		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Autism	Autism	Orphanet			★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	12809671		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	LHGDN	12809671		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	20711234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodendroglioma	Oligodendroglioma	Pubtator	35982066	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Failure, Premature	Ovarian Failure	BEFREE	18675947		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18535405	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	CTD_human_DG	25475535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	BEFREE	29264691		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	38386048	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	19582487, 21082657, 21108403, 22365836, 25977097, 26273832, 26909962, 30116174, 30376466, 31141683, 31653345		★☆☆☆☆ Found in Text Mining only
PITT-HOPKINS SYNDROME	Pitt-Hopkins Syndrome	BEFREE	19896112, 20421335, 21827697, 22777675		★☆☆☆☆ Found in Text Mining only
PITT-HOPKINS SYNDROME	Pitt-Hopkins Syndrome	CTD_human_DG	19896112		★☆☆☆☆ Found in Text Mining only
Pitt-Hopkins-like syndrome	Pitt-Hopkins-Like Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pitt-Hopkins-Like Syndrome 1	Pitt-Hopkins-Like Syndrome	GENOMICS_ENGLAND_DG	11568923		★☆☆☆☆ Found in Text Mining only
Pitt-Hopkins-Like Syndrome 1	Pitt-Hopkins-Like Syndrome	CLINVAR_DG	16571880, 21827697		★☆☆☆☆ Found in Text Mining only
Pitt-Hopkins-Like Syndrome 1	Pitt-Hopkins-Like Syndrome	ORPHANET_DG	16571880		★☆☆☆☆ Found in Text Mining only
Pitt-Hopkins-Like Syndrome 1	Pitt-Hopkins-Like Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	18675947		★☆☆☆☆ Found in Text Mining only
Psychomotor Agitation	Psychiatric disorders	Pubtator	34582124	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	GWASDB_DG	20889312		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	GWASCAT_DG	20889312		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	24418192		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	24418192	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17646849, 19896112, 20157312, 20421335, 20889312, 23123147, 23714751, 23871450, 26843181, 26909962, 29610457, 30341038, 30586385, 30610941		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	LHGDN	17646849		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	Pubtator	19546859, 21827697, 23871450, 26843181, 26909962, 37001843	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	CTD_human_DG	20157312		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	34582124	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	19896112, 21827697		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	28878050		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	22941189		★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific Language Disorder	Specific language disorder	Pubtator	21310003, 24807205	Associate	★☆☆☆☆ Found in Text Mining only
Specific language impairment	Specific Language Impairment	BEFREE	20157312, 20574149, 21193173, 21310003, 24807205, 26097074		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	19582487		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	CTD_human_DG	20157312, 21082657, 21310003		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	21108403		★☆☆☆☆ Found in Text Mining only
Stammering	Stammering	CTD_human_DG	21108403		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stuttering, Familial Persistent 1	Stuttering	CTD_human_DG	21108403		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	28298428		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	28251919, 28628235, 28682959, 29761119		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tourette Syndrome	Tourette syndrome	Pubtator	19546859	Associate	★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	23123147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	23123147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	20711234		★☆☆☆☆ Found in Text Mining only