SYNGAP1 (synaptic Ras GTPase activating protein 1)

Gene

• Entrez ID: 8831
• Gene name: Synaptic Ras GTPase activating protein 1
• Gene symbol: SYNGAP1
• Synonyms (NCBI Gene): MRD5, RASA1, RASA5, SYNGAP
• Chromosome: 6
• Chromosome location: 6p21.32
• Summary: This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918315	A>T	Pathogenic	Stop gained, coding sequence variant
rs121918316	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs397514670	C>T	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514741	C>T	Pathogenic	Coding sequence variant, stop gained
rs397515320	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs587780470	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587780474	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs749188610	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs786205649	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs797045012	A>C,G	Pathogenic	Splice acceptor variant
rs797046029	TCTCCA>C	Pathogenic	Frameshift variant, coding sequence variant
rs797046030	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs797046031	G>T	Pathogenic	Splice donor variant
rs869312674	G>A,C	Conflicting-interpretations-of-pathogenicity, pathogenic	Intron variant
rs869312677	TTGGCAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs869312955	C>T	Pathogenic	Stop gained, coding sequence variant
rs875989808	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs879253762	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518178	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057518352	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057518786	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1057518796	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519400	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519405	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519545	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519546	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1060503383	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1060503384	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1060503386	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064792984	CAGCTCAGCAAGGTCAGCAGATCCCC>-	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1064795331	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795645	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796033	T>-	Pathogenic	Stop gained, coding sequence variant
rs1064796403	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064796547	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064797322	G>A	Likely-pathogenic	Splice donor variant
rs1085307871	C>T	Pathogenic	Stop gained, coding sequence variant
rs1131691635	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691979	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131692154	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1135401805	C>T	Pathogenic	Stop gained, coding sequence variant
rs1395368098	T>C,G	Likely-pathogenic	Splice donor variant
rs1448169616	C>A,G	Likely-pathogenic	Intron variant
rs1485749468	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1554119814	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554120489	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554120498	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1554120589	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554120894	A>G	Pathogenic	Splice acceptor variant
rs1554120939	->CACA	Pathogenic	Coding sequence variant, frameshift variant
rs1554120966	->GT	Pathogenic	Coding sequence variant, frameshift variant
rs1554120978	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554121671	->AGGA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554121685	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554121729	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554121861	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554121970	G>A,T	Pathogenic	Splice donor variant
rs1554122179	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554122196	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554122200	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554122242	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554122252	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554122276	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554122289	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554122293	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554122296	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1554122305	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554122341	TCAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554122348	G>AA	Pathogenic	Coding sequence variant, frameshift variant
rs1554122363	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554122402	G>A	Pathogenic	Splice donor variant
rs1554122457	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554122458	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554122689	G>A	Pathogenic	Intron variant
rs1554122710	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554122729	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554122735	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554122888	G>T	Pathogenic	Stop gained, coding sequence variant
rs1554304254	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554304258	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561781989	G>A	Pathogenic	Splice donor variant
rs1561783309	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1561787690	GTCCACTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561787845	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1561788965	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1561788984	CCTCAACAGCAGCAGTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561789215	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561789313	GGTCCCCCAGGCGGCCATGGAGGGGGCGGTGGCCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562869207	G>A	Likely-pathogenic	Splice acceptor variant
rs1581980317	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581991929	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581992099	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581992998	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1581995425	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581995453	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs1581995609	AGC>G	Pathogenic	Coding sequence variant, frameshift variant
rs1581995953	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581996778	->GCAGCGGTGGGGGTGGCGGGGG	Pathogenic	Coding sequence variant, frameshift variant
rs1581996813	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581997098	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581997228	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581998105	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1582001015	->A	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT040627	hsa-miR-92b-3p	CLASH	23622248
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	19536157
MIRT612588	hsa-miR-629-5p	HITS-CLIP	19536157
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	19536157
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	19536157
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	19536157
MIRT612584	hsa-miR-525-5p	HITS-CLIP	19536157
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	19536157
MIRT612582	hsa-miR-4265	HITS-CLIP	19536157
MIRT612581	hsa-miR-4296	HITS-CLIP	19536157
MIRT612580	hsa-miR-4322	HITS-CLIP	19536157
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	19536157
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	19536157
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	19536157
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT439499	hsa-miR-487a-3p	HITS-CLIP	24374217
MIRT439499	hsa-miR-487a-3p	HITS-CLIP	24374217
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	19536157
MIRT612588	hsa-miR-629-5p	HITS-CLIP	19536157
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	19536157
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	19536157
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	19536157
MIRT612584	hsa-miR-525-5p	HITS-CLIP	19536157
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	19536157
MIRT612582	hsa-miR-4265	HITS-CLIP	19536157
MIRT612581	hsa-miR-4296	HITS-CLIP	19536157
MIRT612580	hsa-miR-4322	HITS-CLIP	19536157
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	19536157
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	19536157
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	19536157
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT1405795	hsa-miR-101	CLIP-seq
MIRT1405796	hsa-miR-1225-3p	CLIP-seq
MIRT1405797	hsa-miR-1233	CLIP-seq
MIRT1405798	hsa-miR-1252	CLIP-seq
MIRT1405799	hsa-miR-1255a	CLIP-seq
MIRT1405800	hsa-miR-1255b	CLIP-seq
MIRT1405801	hsa-miR-1321	CLIP-seq
MIRT1405802	hsa-miR-144	CLIP-seq
MIRT1405803	hsa-miR-147b	CLIP-seq
MIRT1405804	hsa-miR-190	CLIP-seq
MIRT1405805	hsa-miR-1908	CLIP-seq
MIRT1405806	hsa-miR-190b	CLIP-seq
MIRT1405807	hsa-miR-210	CLIP-seq
MIRT1405808	hsa-miR-2113	CLIP-seq
MIRT1405809	hsa-miR-296-3p	CLIP-seq
MIRT1405810	hsa-miR-3154	CLIP-seq
MIRT1405811	hsa-miR-3180	CLIP-seq
MIRT1405812	hsa-miR-3180-3p	CLIP-seq
MIRT1405813	hsa-miR-3184	CLIP-seq
MIRT1405814	hsa-miR-3190	CLIP-seq
MIRT1405815	hsa-miR-3196	CLIP-seq
MIRT1405816	hsa-miR-3201	CLIP-seq
MIRT1405817	hsa-miR-3202	CLIP-seq
MIRT1405818	hsa-miR-329	CLIP-seq
MIRT1405819	hsa-miR-342-5p	CLIP-seq
MIRT1405820	hsa-miR-3605-5p	CLIP-seq
MIRT1405821	hsa-miR-361-3p	CLIP-seq
MIRT1405822	hsa-miR-362-3p	CLIP-seq
MIRT1405823	hsa-miR-3689a-3p	CLIP-seq
MIRT1405824	hsa-miR-3689c	CLIP-seq
MIRT1405825	hsa-miR-3689d	CLIP-seq
MIRT1405826	hsa-miR-3919	CLIP-seq
MIRT1405827	hsa-miR-3943	CLIP-seq
MIRT1405828	hsa-miR-423-5p	CLIP-seq
MIRT1405829	hsa-miR-4313	CLIP-seq
MIRT1405830	hsa-miR-4419a	CLIP-seq
MIRT1405831	hsa-miR-4476	CLIP-seq
MIRT1405832	hsa-miR-4510	CLIP-seq
MIRT1405833	hsa-miR-4533	CLIP-seq
MIRT1405834	hsa-miR-4640-5p	CLIP-seq
MIRT1405835	hsa-miR-4651	CLIP-seq
MIRT1405836	hsa-miR-4663	CLIP-seq
MIRT1405837	hsa-miR-4664-5p	CLIP-seq
MIRT1405838	hsa-miR-4690-3p	CLIP-seq
MIRT1405839	hsa-miR-4712-3p	CLIP-seq
MIRT1405840	hsa-miR-4716-3p	CLIP-seq
MIRT1405841	hsa-miR-4723-5p	CLIP-seq
MIRT1405842	hsa-miR-4726-5p	CLIP-seq
MIRT1405843	hsa-miR-4728-5p	CLIP-seq
MIRT1405844	hsa-miR-4739	CLIP-seq
MIRT1405845	hsa-miR-4756-5p	CLIP-seq
MIRT1405846	hsa-miR-4791	CLIP-seq
MIRT1405847	hsa-miR-4797-5p	CLIP-seq
MIRT1405848	hsa-miR-608	CLIP-seq
MIRT1405849	hsa-miR-663	CLIP-seq
MIRT2121652	hsa-miR-1275	CLIP-seq
MIRT2121653	hsa-miR-1296	CLIP-seq
MIRT2121654	hsa-miR-1915	CLIP-seq
MIRT2121655	hsa-miR-2467-3p	CLIP-seq
MIRT2121656	hsa-miR-2964a-5p	CLIP-seq
MIRT2121657	hsa-miR-3150a-3p	CLIP-seq
MIRT1405810	hsa-miR-3154	CLIP-seq
MIRT2121658	hsa-miR-3163	CLIP-seq
MIRT2121659	hsa-miR-3175	CLIP-seq
MIRT2121660	hsa-miR-3179	CLIP-seq
MIRT2121661	hsa-miR-3192	CLIP-seq
MIRT2121662	hsa-miR-3199	CLIP-seq
MIRT1405817	hsa-miR-3202	CLIP-seq
MIRT2121663	hsa-miR-3612	CLIP-seq
MIRT1405821	hsa-miR-361-3p	CLIP-seq
MIRT2121664	hsa-miR-4282	CLIP-seq
MIRT1405829	hsa-miR-4313	CLIP-seq
MIRT2121665	hsa-miR-4434	CLIP-seq
MIRT2121666	hsa-miR-4447	CLIP-seq
MIRT2121667	hsa-miR-4472	CLIP-seq
MIRT2121668	hsa-miR-4505	CLIP-seq
MIRT2121669	hsa-miR-4516	CLIP-seq
MIRT2121670	hsa-miR-4652-5p	CLIP-seq
MIRT2121671	hsa-miR-4665-5p	CLIP-seq
MIRT2121672	hsa-miR-4688	CLIP-seq
MIRT1405841	hsa-miR-4723-5p	CLIP-seq
MIRT1405843	hsa-miR-4728-5p	CLIP-seq
MIRT2121673	hsa-miR-486-3p	CLIP-seq
MIRT2121674	hsa-miR-491-5p	CLIP-seq
MIRT2121675	hsa-miR-513a-3p	CLIP-seq
MIRT2121676	hsa-miR-592	CLIP-seq
MIRT2121677	hsa-miR-597	CLIP-seq
MIRT2121678	hsa-miR-650	CLIP-seq
MIRT2121679	hsa-miR-892a	CLIP-seq
MIRT2121680	hsa-miR-939	CLIP-seq
MIRT1405798	hsa-miR-1252	CLIP-seq
MIRT2121657	hsa-miR-3150a-3p	CLIP-seq
MIRT2121659	hsa-miR-3175	CLIP-seq
MIRT2121661	hsa-miR-3192	CLIP-seq
MIRT1405819	hsa-miR-342-5p	CLIP-seq
MIRT2343682	hsa-miR-4270	CLIP-seq
MIRT2343683	hsa-miR-4274	CLIP-seq
MIRT1405830	hsa-miR-4419a	CLIP-seq
MIRT2343684	hsa-miR-4441	CLIP-seq
MIRT2121666	hsa-miR-4447	CLIP-seq
MIRT2121667	hsa-miR-4472	CLIP-seq
MIRT2343685	hsa-miR-4481	CLIP-seq
MIRT2121668	hsa-miR-4505	CLIP-seq
MIRT1405832	hsa-miR-4510	CLIP-seq
MIRT1405835	hsa-miR-4651	CLIP-seq
MIRT1405837	hsa-miR-4664-5p	CLIP-seq
MIRT1405843	hsa-miR-4728-5p	CLIP-seq
MIRT2343686	hsa-miR-4745-5p	CLIP-seq
MIRT2121674	hsa-miR-491-5p	CLIP-seq
MIRT1405848	hsa-miR-608	CLIP-seq
MIRT2121680	hsa-miR-939	CLIP-seq
MIRT1405829	hsa-miR-4313	CLIP-seq
MIRT1405830	hsa-miR-4419a	CLIP-seq
MIRT1405832	hsa-miR-4510	CLIP-seq
MIRT1405843	hsa-miR-4728-5p	CLIP-seq
MIRT2460968	hsa-miR-3162-3p	CLIP-seq
MIRT2460969	hsa-miR-4780	CLIP-seq
MIRT2637390	hsa-miR-297	CLIP-seq
MIRT2121662	hsa-miR-3199	CLIP-seq
MIRT2637391	hsa-miR-4278	CLIP-seq
MIRT2637392	hsa-miR-4525	CLIP-seq
MIRT1405840	hsa-miR-4716-3p	CLIP-seq
MIRT2637393	hsa-miR-567	CLIP-seq
MIRT2637390	hsa-miR-297	CLIP-seq
MIRT2121662	hsa-miR-3199	CLIP-seq
MIRT2637391	hsa-miR-4278	CLIP-seq
MIRT2637392	hsa-miR-4525	CLIP-seq
MIRT1405840	hsa-miR-4716-3p	CLIP-seq
MIRT2692484	hsa-miR-4740-5p	CLIP-seq
MIRT2637393	hsa-miR-567	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	30021884, 32296183, 36950384, 37207277
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0007265	Process	Ras protein signal transduction	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0008542	Process	Visual learning	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0043113	Process	Receptor clustering	IEA
GO:0043198	Component	Dendritic shaft	IEA
GO:0043408	Process	Regulation of MAPK cascade	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IEA
GO:0046580	Process	Negative regulation of Ras protein signal transduction	ISS
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	IEA
GO:0050771	Process	Negative regulation of axonogenesis	IEA
GO:0050803	Process	Regulation of synapse structure or activity	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0098880	Process	Maintenance of postsynaptic specialization structure	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1902531	Process	Regulation of intracellular signal transduction	IBA

Other IDs

• MIM: 603384
• HGNC: 11497
• e!Ensembl: ENSG00000197283

Protein

• UniProt ID: Q96PV0
• Protein name: Ras/Rap GTPase-activating protein SynGAP (Neuronal RasGAP) (Synaptic Ras GTPase-activating protein 1) (Synaptic Ras-GAP 1)
• Protein function: Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, A
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00168	C2	262 → 365	C2 domain	Domain
  PF00616	RasGAP	464 → 541	GTPase-activator protein for Ras-like GTPase	Family
  PF00616	RasGAP	532 → 635	GTPase-activator protein for Ras-like GTPase	Family
  PF12004	DUF3498	718 → 1313	Domain of unknown function (DUF3498)	Family

• Sequence:

  MSRSRASIHRGSIPAMSYAPFRDVRGPSMHRTQYVHSPYDRPGWNPRFCIISGNQLLMLD
  EDEIHPLLIRDRRSESSRNKLLRRTVSVPVEGRPHGEHEYHLGRSRRKSVPGGKQYSMEG
  APAAPFRPSQGFLSRRLKSSIKRTKSQPKLDRTSSFRQILPRFRSADHDRARLMQSFKES
  HSHESLLSPSSAAEALELNLDEDSIIKPVHSSILGQEFCFEVTTSSGTKCFACRSAAERD
  KWIENLQRAVKPNKDNSRRVDNVLKLWIIEARELPPKKRYYCELCLDDMLYARTTSKPRS
  ASGDTVFWGEHFEFNNLPAVRALRLHLYRDSDKKRKKDKAGYVGLVTVPVATLAGRHFTE
  QWYPVTLPTGSGGSGGMGSGGGGGSGGGSGGKGKGGCPAVRLKARYQTMSILPMELYKEF
  AEYVTNHYRMLCAVLEPALNVKGKEEVASALVHILQSTGKAKDFLSDMAMSEVDRFMERE
  HLIFRENTLATKAIEEYMRLIGQKYLKDAIGEFIRALYESEENCEVDPIKCTASSLAEHQ
  ANLRMCCELALCKVVNSHCVFPRELKEVFASWRLRCAERGREDIADRLISASLFLRFLCP
  AIMSPSLFGLMQEYPDEQTSRTLTLIAKVIQNLANFSKFTSKEDFLGFMNEFLELEWGSM
  QQFLYEISNLDTLTNSSSFEGYIDLGRELSTLHALLWEVLPQLSKEALLKLGPLPRLLND
  ISTALRNPNIQRQPSRQSERPRPQPVVLRGPSAEMQGYMMRDLNSSIDLQSFMARGLNSS
  MDMARLPSPTKEKPPPPPPGGGKDLFYVSRPPLARSSPAYCTSSSDITEPEQKMLSVNKS
  VSMLDLQGDGPGGRLNSSSVSNLAAVGDLLHSSQASLTAALGLRPAPAGRLSQGSGSSIT
  AAGMRLSQMGVTTDGVPAQQLRIPLSFQNPLFHMAADGPGPPGGHGGGGGHGPPSSHHHH
  HHHHHHRGGEPPGDTFAPFHGYSKSEDLSSGVPKPPAASILHSHSYSDEFGPSGTDFTRR
  QLSLQDNLQHMLSPPQITIGPQRPAPSGPGGGSGGGSGGGGGGQPPPLQRGKSQQLTVSA
  AQKPRPSSGNLLQSPEPSYGPARPRQQSLSKEGSIGGSGGSGGGGGGGLKPSITKQHSQT
  PSTLNPTMPASERTVAWVSNMPHLSADIESAHIEREEYKLKEYSKSMDESRLDRVKEYEE
  EIHSLKERLHMSNRKLEEYERRLLSQEEQTSKILMQYQARLEQSEKRLRQQQAEKDSQIK
  SIIGRLMLVEEELRRDHPAMAEPLPEPKKRLLDAQERQLPPLGPTNPRVTLAPPWNGLAP
  PAPPPPPRLQITENGEFRNTADH

• Sequence length: 1343

Pathways

KEGG:

Ras signaling pathway

Reactome:

Regulation of RAS by GAPs

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
Absent speech	Likely pathogenic	rs1057518796	RCV000414895	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical behavior	Likely pathogenic	rs1554121671	RCV000626900	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant epilepsy	Likely pathogenic; Pathogenic	rs397514670	RCV003156067	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia	Likely pathogenic	rs1057518796	RCV000414895	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complex neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs869312955, rs1057518352, rs1060503386, rs749188610, rs1554121970, rs1554120978, rs397514670, rs1554122689, rs397514741, rs1554122400, rs1760893537, rs1760935231, rs1554122402, rs1777196665, rs1554122455	RCV001265530 RCV001265346 RCV001265347 RCV001265349 RCV001265155 RCV001265351 RCV001265525 RCV001265158 RCV001265523 RCV001265524 RCV001265527 RCV001265157 RCV001265156 RCV001265529 RCV001265348	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Delayed speech and language development	Likely pathogenic	rs1554121671	RCV000626900	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Pathogenic	rs1554122252	RCV003126874	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs1057519545, rs1581998105	RCV000416992 RCV001003591	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs1057518796, rs1554121671	RCV000414895 RCV000626900	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile epilepsy syndrome	Pathogenic	rs1131691979	RCV001265345	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile epileptic dyskinetic encephalopathy	Pathogenic	rs1554122689	RCV001824853	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1554122249, rs2151190588, rs2151202533, rs869312674, rs1131692154, rs1554121970, rs1761049027, rs1554121202, rs1760905358	RCV001526635 RCV001526524 RCV001526590 RCV000224644 RCV005621955 RCV001260864 RCV001255374 RCV001260777 RCV001260877	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability, autosomal dominant 5	Pathogenic; Likely pathogenic	rs1777299176, rs1760931697, rs1400108198, rs767126748, rs2151161955, rs2151170996, rs2151180361, rs1554304655, rs1776941586, rs2151168473, rs2151169133, rs371883908, rs2151172286, rs1554121684, rs2151183929, rs1581995425, rs2151188826, rs2151199347, rs1554122249, rs2151172644, rs2151190135, rs1554121924, rs2151190684, rs2151170014, rs1554120974, rs2151168593, rs2151172748, rs2151190466, rs2151191080, rs587780470, rs587780474, rs2151172356, rs2151199529, rs1175416158, rs2151181087, rs2151193070, rs2151192910, rs2151190116, rs2151188291, rs2151181120, rs2151188152, rs2151169721, rs2151190809, rs2151168687, rs2151181124, rs1561781989, rs2151172652, rs1554121682, rs2151190159, rs2151172438, rs2151171287, rs1760930644, rs2151151998, rs2151189924, rs1554122402, rs1554122368, rs2151129654, rs2151182679, rs2151168637, rs2537369033, rs1554122191, rs1554122287, rs2537392739, rs2537397359, rs2537431345, rs1554121970, rs2537396361, rs2537283743, rs2537283301, rs1554122470, rs2537422083, rs763386280, rs797045012, rs2537449413, rs797046031, rs797046028, rs797046029, rs797046030, rs2537453921, rs2537397002, rs1554122346, rs2151134692, rs2537351091, rs2537452533, rs2537299697, rs2537389235, rs1554119819, rs2537444256, rs863224930, rs121918315, rs121918316, rs397515320, rs2537391175, rs2537446428, rs2537447093, rs2537393350, rs1554122478, rs2537351663, rs2537368917, rs2537352053, rs869312674, rs869312677, rs869312955, rs2537369185, rs2537427553, rs2537452061, rs2537392581, rs879253762, rs2537449694, rs2537453391, rs2537388913, rs1554122750, rs2537475410, rs2537402199, rs1554121853, rs2537397972, rs2537283697, rs1761037096, rs2537390164, rs576589974, rs2537351314, rs2537447395, rs1554122243, rs1776744347, rs2537475263, rs2537447986, rs2537432050, rs187150565, rs2537449548, rs2537446130, rs2537450220, rs2537284365, rs2537428845, rs2537444100, rs2537393016, rs2537398099, rs2537459268, rs2537431100, rs2537428137, rs2537394339, rs138903637, rs2537368449, rs1554122749, rs2537447997, rs2537475927, rs1057518352, rs1057518183, rs1057518796, rs1057519546, rs1057519400, rs1057519405, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1064796403, rs1131691979, rs1131692154, rs1135401805, rs749188610, rs1554122735, rs1485749468, rs1554120589, rs1554121228, rs1554120498, rs1554121189, rs1554122363, rs2151161019, rs1554304254, rs1554120978, rs1581995953, rs1581987445, rs397514670, rs1554122252, rs1554122458, rs1554122729, rs1554121443, rs1554119814, rs2537389782, rs1554122293, rs1554122341, rs1554122689, rs1554121453, rs1554121265, rs1561788984, rs1561784687, rs1554122296, rs1561789313, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs1561783309, rs1561785326, rs1561786928, rs1554121861, rs1554122200, rs1562869207, rs1581987022, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs397514741, rs1561785045, rs1554121438, rs1581996813, rs1582001015, rs1554121932, rs2537371782, rs2537397747, rs2537453727, rs2537261082, rs1760905766, rs1761021165, rs1554121934, rs1761241410, rs1064797322, rs1777174302, rs1760897843, rs1761087122, rs1777175608, rs1554121245, rs1760905282, rs1554122483, rs1761208393, rs1760896816, rs1761010258, rs1554121960, rs1761113561, rs1761207751, rs1761212075, rs1777307832, rs1760897529, rs1554122244, rs1554122400, rs1761096151, rs1760890843, rs1760918521, rs1760930568, rs1760904978, rs1761049027, rs1760891950, rs1760893537, rs1554122455, rs1761103512	RCV001331640 RCV001330300 RCV001376009 RCV001377168 RCV001379232 RCV001379189 RCV001378478 RCV001382704 RCV001388698 RCV001388600 RCV001389382 RCV001390702 RCV001385049 RCV001381135 RCV001383669 RCV001384526 RCV001386416 RCV001381313 RCV002568842 RCV002568206 RCV002250764 RCV004594368 RCV001706830 RCV001706870 RCV001807893 RCV001808059 RCV001869805 RCV001843837 RCV001881498 RCV000118565 RCV000118568 RCV001978997 RCV001906281 RCV001950965 RCV001992394 RCV001898242 RCV001960092 RCV002007246 RCV001957450 RCV002002948 RCV001941619 RCV001953409 RCV001913005 RCV001958567 RCV002033106 RCV001949478 RCV001927667 RCV001941288 RCV002045000 RCV002074482 RCV002249187 RCV002249188 RCV002246754 RCV002246755 RCV002267701 RCV002271975 RCV002272999 RCV002273207 RCV005095984 RCV002288375 RCV002294934 RCV002308499 RCV002465459 RCV002468802 RCV002468803 RCV002471725 RCV002471729 RCV002470207 RCV002470293 RCV003093781 RCV004763428 RCV003112783 RCV000190512 RCV002796170 RCV000193233 RCV000193516 RCV000194556 RCV000194044 RCV002852775 RCV002880865 RCV002881417 RCV002858538 RCV002894349 RCV002847140 RCV002871105 RCV002852037 RCV002885306 RCV002967893 RCV000198471 RCV000006764 RCV000006765 RCV000006766 RCV003013785 RCV003014481 RCV003027322 RCV003033794 RCV003055213 RCV003036208 RCV003043892 RCV003049945 RCV000209920 RCV000209949 RCV000679896 RCV003110187 RCV003142488 RCV003149155 RCV003615931 RCV000234890 RCV003224999 RCV003234751 RCV003335800 RCV003405049 RCV005100310 RCV005100311 RCV003508273 RCV003508144 RCV003508259 RCV003508294 RCV003508790 RCV003507725 RCV003506993 RCV003507825 RCV003615994 RCV003616241 RCV003616475 RCV003616528 RCV003616526 RCV003616866 RCV003616891 RCV003616884 RCV003616922 RCV003616925 RCV003615598 RCV003842907 RCV003988804 RCV003988805 RCV003988806 RCV003988807 RCV003988808 RCV003988809 RCV003988810 RCV003988811 RCV004526385 RCV005933651 RCV004593655 RCV004595736 RCV000496106 RCV003615837 RCV001198243 RCV000417030 RCV000417100 RCV000417098 RCV000476459 RCV000457705 RCV000470395 RCV000477576 RCV003615842 RCV000689750 RCV001205064 RCV000496165 RCV000499432 RCV000503187 RCV000503272 RCV000505188 RCV001853685 RCV000537489 RCV000535060 RCV000534618 RCV000680115 RCV000032868 RCV000585865 RCV000590939 RCV000034345 RCV000034346 RCV000034347 RCV000034348 RCV003985402 RCV001090141 RCV001050171 RCV000626018 RCV000645738 RCV003862441 RCV000645730 RCV000645731 RCV000645739 RCV000660522 RCV000677430 RCV000680114 RCV000693257 RCV000705614 RCV000698578 RCV000690613 RCV000687566 RCV000688563 RCV000697308 RCV000692134 RCV000707018 RCV000696570 RCV000699423 RCV000760259 RCV000760232 RCV000760192 RCV004017727 RCV003987694 RCV004527398 RCV000787271 RCV000816375 RCV000806993 RCV000803610 RCV000817612 RCV000796727 RCV000818376 RCV000796202 RCV000816226 RCV000797147 RCV000802785 RCV000799582 RCV000812055 RCV000800967 RCV000824112 RCV000054513 RCV000984979 RCV000987679 RCV000987680 RCV000987681 RCV000987683 RCV001031012 RCV001004693 RCV001004682 RCV001004689 RCV001004731 RCV001043667 RCV001064969 RCV001034746 RCV001070985 RCV001069599 RCV001089537 RCV001390342 RCV001873452 RCV001095641 RCV001175141 RCV001199157 RCV001223893 RCV001219537 RCV001202268 RCV001207862 RCV001203980 RCV001203203 RCV001202586 RCV001204347 RCV001223942 RCV001230329 RCV001229415 RCV001234123 RCV001248110 RCV001249694 RCV001250746 RCV001252123 RCV001252124 RCV001252125 RCV001253508 RCV001253736 RCV001257343 RCV001260588 RCV003225964 RCV001871641 RCV001300335	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability, autosomal recessive 5	Pathogenic	rs1131692154	RCV000495902	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic	rs1581998105	RCV001003591	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor delay	Likely pathogenic	rs1554121671	RCV000626900	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs1060503386	RCV002274036	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs2151168879	RCV001374936	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs2537391376, rs1060503386, rs1581987268, rs1554122080	RCV004547423 RCV005624401 RCV005624430 RCV004546599	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SYNGAP1-related disorder	Pathogenic; Likely pathogenic	rs2151168473, rs869312674, rs2537371206, rs2537445488, rs2537450886, rs1064797322, rs1554121970, rs1581987902	RCV004550100 RCV004547504 RCV004550787 RCV004550610 RCV004548974 RCV004551600 RCV003987580 RCV003987760	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SYNGAP1-related encephalopathy	Likely pathogenic; Pathogenic	rs2151172748	RCV001822991	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized hypotonia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Preauricular skin tag	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stereotypic movement disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNAPTIC RAS GTPASE ACTIVATING PROTEIN 1-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNGAP1-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	29098030, 9815576		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24043274, 24535670		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27158780		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	17426081		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	26753516		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	26753516		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	39311700	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	36261283	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12606953		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	28701309		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31352174		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	29891884	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11005256		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	30541864	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31352174		★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	Pubtator	24139535	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	30541864, 31395010, 32887745, 33308442, 34948243, 35576811, 35655128, 35773312	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	19196676, 21237447, 26110312, 31220273		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	20531469		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	20531469, 25167861, 25418537, 27897003, 28576131, 31395010, 35205412, 37146502, 39311700	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	21237447, 23161826, 30908877		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29895617		★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	BEFREE	8943895		★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Awakening Epilepsy	Epilepsy	CTD_human_DG	23708187, 29942082		★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	8289476		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
BASAL CELL CARCINOMA, SOMATIC	Carcinoma, Somatic	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Benign essential blepharospasm	Benign Essential Blepharospasm	BEFREE	28721930		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22450745		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharospasm	Blepharospasm	BEFREE	28721930		★☆☆☆☆ Found in Text Mining only
Borderline intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	23708187, 29190809, 32887745	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	1662505		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18191019, 20550696, 20595387, 20676106, 25394563, 28779344, 29098030, 29421981, 7829252, 8347849, 8443798		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24347041, 32635943	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	29573509		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	28515100		★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	BEFREE	14639529, 16379592, 18327598, 18363760, 20007727, 22200646, 26132338, 26969842, 29110021, 29891884, 30760892		★☆☆☆☆ Found in Text Mining only
Capillary Malformation Without Arteriovenous Malformation	Capillary Malformation Without Arteriovenous Malformation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Capillary malformation-arteriovenous malformation	Capillary Malformation-Arteriovenous Malformation	Orphanet			★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)	Capillary Malformation-Arteriovenous Malformation	BEFREE	14639529, 18327598, 18363760, 21626678, 22232212, 22913934, 23650393, 23687085, 23829194, 23972370, 24038909, 24168113, 25040287, 25602354, 26096958, 26499346, 26969842, 28530642, 28730721, 29024832, 29110021, 29120072, 29171923, 29350590, 29891884, 30026675, 30507091, 30635911, 31185000, 31230861, 31746477		★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)	Capillary Malformation-Arteriovenous Malformation	ORPHANET_DG	14639529		★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)	Capillary Malformation-Arteriovenous Malformation	GENOMICS_ENGLAND_DG	14639529, 30635911		★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)	Capillary Malformation-Arteriovenous Malformation	CLINVAR_DG	18446851, 23164092, 24038909, 26499346, 29120072		★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)	Capillary Malformation-Arteriovenous Malformation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1	Capillary Malformation-Arteriovenous Malformation	GENOMICS_ENGLAND_DG	14639529, 22342634, 27081547		★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1	Capillary Malformation-Arteriovenous Malformation	UNIPROT_DG	14639529, 24038909		★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1	Capillary Malformation-Arteriovenous Malformation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12606953		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	30672146		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24443565	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26126858	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22450745		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18191019, 29127119, 31554007, 8270251, 9815576		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25303977, 27158780, 32434476	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	11752813		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12606953		★☆☆☆☆ Found in Text Mining only
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28618949		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28883427, 31352174		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27101583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	27101583		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	10712588		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	8943895		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	27827368		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32887745	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	24879442		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21570766, 25663768, 28969027		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23752192, 24465899, 27752061, 30858928, 31332286		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24465899	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	CTD_human_DG	14639529		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	15917201, 18363760, 22200646, 23829194, 24010650, 24139535, 28730721, 29025196, 29891884, 30760892, 30819650, 30975463		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypotrichia	Congenital Hypotrichia	BEFREE	25059281		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	21626678		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	26079862, 28576131	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27767378		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	19995790		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	29024832		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	15304337		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	26079862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	26079862, 27086544, 28867142, 31395010, 32887745	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36585417	Associate	★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	26079862		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	23347178		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	23347178		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15312654, 19196676, 20531469, 21237447, 21376300, 22604720, 23020937, 23033978, 23141534, 23161826, 23708187, 23934111, 24267886, 25533962, 26079862, 26989088, 27827368, 28576131		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	36002837	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	15304337		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30356372		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	22050443	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	31639411		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23687080, 23708187, 26079862, 26110312, 28721930, 29402231, 29580901, 31454529		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	23708187, 29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	26079862, 28576131, 29190809, 30541864, 31395010, 33308442, 35655128, 39311700	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Absence	Absence epilepsy	Pubtator	31395010	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	22050443, 31401500	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	23708187, 29942082		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	22050443, 26110312		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	BEFREE	26079862		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	23141534		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	30541864, 30556619, 37867425	Associate	★☆☆☆☆ Found in Text Mining only
Eyelid Diseases	Eyelid disease	Pubtator	30541864, 38088023	Associate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	28576131	Associate	★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	24168557		★☆☆☆☆ Found in Text Mining only
Familial cerebral cavernous malformation	Cerebral cavernous malformation	Pubtator	34491620	Associate	★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	31639411		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	BEFREE	31639411		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	28954225		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31440166		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31440166		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10024672		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Growth Disorders	Growth disorder	Pubtator	28576131	Associate	★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	24139535	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	36002837	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36002837	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	BEFREE	29350590		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	35397126	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	BEFREE	26096958		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	30690792		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	18434237		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	BEFREE	30366734		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	BEFREE	25059281		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	26126858	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	26110312, 30685520		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28086844, 28340864, 28502419, 28787101, 28886713, 29017478, 31166938, 31186636, 31467375		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27827368, 29030432		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	19196676, 21237447, 21626678, 22050443, 23141534, 23161826, 23687080, 26079862, 26110312, 29381230, 29402231, 31454529		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	LHGDN	19196676		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	CTD_human_DG	21076407		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	21119708, 22050443, 26079862, 28576131, 30541864, 31395010, 33308442, 33937973, 34358384, 35655128, 39311700	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	14639529, 18446851, 20007727, 28687708	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	34491620	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	25394563, 28618949, 28779344		★☆☆☆☆ Found in Text Mining only
Keratitis Dendritic	Herpetic keratitis	Pubtator	36261283	Associate	★☆☆☆☆ Found in Text Mining only
Klippel-Trenaunay-Weber Syndrome	Klippel-Trenaunay-Weber Syndrome	BEFREE	22200646, 23650393, 29891884		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	28576131, 35655128	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngeal cleft	Laryngeal cleft	BEFREE	8290270		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15284113, 8245773	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	14978793, 8528106		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	10365117		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17292327, 22168621, 22614672, 26126858, 26840794, 28179330		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	27158780	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	28086844, 28502419, 29858026, 30961952, 31015884, 31578022		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29343556	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12367560		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27101583	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	28515100		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18191019, 20595387, 25394563, 27974415, 28779344, 29098030, 29421981, 8443798		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28150874		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18191019, 29127119, 31554007, 8270251, 9815576		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12671892, 23558076, 26747707		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18073375, 18519696, 23308052, 27476001, 9877179		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	1520317		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22450745		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12492499, 23010077, 23723238, 23950111, 25394563, 28969027, 29344173, 30115694, 30356372, 31041977, 31306575, 8287366, 8443798		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	19901965		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27101583		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25663768, 28969027		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28108518		★☆☆☆☆ Found in Text Mining only
Martsolf syndrome	Martsolf Syndrome	BEFREE	18413245		★☆☆☆☆ Found in Text Mining only
Megalencephaly cutis marmorata telangiectatica congenita	Megalencephaly Cutis Marmorata Telangiectatica Congenita	BEFREE	20582592		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26502337, 26993606, 29620236		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26502337	Associate	★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21076407		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	19196676, 21626678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation Autosomal Dominant 5	Intellectual developmental disorder	Pubtator	36183676, 37385133	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation, Autosomal Dominant 5	Mental retardation	CLINVAR_DG	19196676, 23161826, 23708187, 25167861, 25356970, 25418537, 26795593, 26989088, 28554332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, Autosomal Dominant 5	Mental retardation	UNIPROT_DG	19196676, 21076407, 21237447, 23161826, 23708187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, Autosomal Dominant 5	Mental retardation	GENOMICS_ENGLAND_DG	23141534		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, Autosomal Dominant 5	Mental retardation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	28576131	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	9417914		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	17510315	Stimulate	★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Motor Skills Disorders	Motor skills disorder	Pubtator	35655128	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	29024832	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	15312654, 19196676, 20531469, 21237447, 21376300, 22604720, 23020937, 23033978, 23141534, 23161826, 23708187, 23934111, 24267886, 25533962, 26079862, 26989088, 27827368, 28576131		★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	20550696		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	BEFREE	22050443		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	15312654, 19196676, 20531469, 21237447, 21376300, 22604720, 23020937, 23033978, 23141534, 23161826, 23708187, 23934111, 24267886, 25533962, 26079862, 26989088, 27827368, 28576131		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	26521017	Inhibit	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28515100, 7504542, 8195713, 8207976, 9783802		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	8943895		★☆☆☆☆ Found in Text Mining only
Myoclonic Absence Epilepsy	Myotonia Levior	BEFREE	22050443		★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic dystonia	Pubtator	35773312	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	26079862		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	30961952		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18627284		★☆☆☆☆ Found in Text Mining only
Nausea	Nausea	Pubtator	24139535	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11080503, 11403720, 11889215, 12469204, 12492499, 12531887, 12671892, 12734724, 14610055, 15492507, 1568246, 1570015, 16169856, 16217026, 17426081, 17510315, 17551147, 18191019, 18627284, 2031288, 20629949, 20676106, 22168621, 22614672, 23423222, 23723238, 23752192, 23950111, 24253896, 25136583, 25394563, 26860753, 26993606, 27614886, 27896589, 27941538, 27974415, 28108518, 28150874, 28179330, 28618949, 29098030, 29344173, 30927944, 31312020, 31672913, 7614817, 8270251, 8287366, 8665528, 9012403, 9300663, 9713312		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29940508		★☆☆☆☆ Found in Text Mining only
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	26774077		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28163190		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27086544, 29580901, 31454529		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889, 29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
neurofibroma	Neurofibroma	BEFREE	1280127		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	1280127		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	10844550, 11005256, 11080503, 12524206, 12573431, 12661943, 12734724, 1457041, 1520317, 1568247, 16169856, 17426081, 18218617, 1904223, 19449407, 1946382, 1946460, 19901965, 2121370, 21478499, 21949657, 22901811, 23361976, 23423222, 23487764, 23703870, 24278035, 26635368, 29670214, 29680440, 29804243, 7575561, 8321021, 8499944, 8528106, 8825042, 9668168, 9713312		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	23082153	Associate	★☆☆☆☆ Found in Text Mining only
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME	Neurofibromatosis	BEFREE	26635368		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis-Noonan syndrome	Neurofibromatosis-Noonan Syndrome	BEFREE	19449407		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	BEFREE	7621416		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28543987, 29127119, 8270251		★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	30144784		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	28681264		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	CLINGEN_DG	26969842		★☆☆☆☆ Found in Text Mining only
Noonan syndrome-like disorder with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Noonan-Like Syndrome With Loose Anagen Hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31191459		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	12600941		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27966608		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12671892, 23558076, 26747707		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26747707, 27137215	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	10844550		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	30690792		★☆☆☆☆ Found in Text Mining only
Parkes Weber syndrome	Parkes Weber Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	17426081		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	17712732		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	15010862		★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	CTD_human_DG	14639529		★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	BEFREE	24038909		★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	18327598, 25602354		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	26549032		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21076407		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	BEFREE	9877179		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18073375, 18519696, 23308052, 27476001, 9877179		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	25939597		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic Diseases	BEFREE	18560202		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	18073375		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25189356, 25939597	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	28681264		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29017478		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 2 (disorder)	Retinitis Pigmentosa	BEFREE	28444310		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	19503088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	7621416		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	19145222		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28540026, 30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	27271353, 29580901, 30705251		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	33308442	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	21119708, 25418537, 26079862, 30541864, 31401500, 32887745	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	29580901		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	31186636, 8270251		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	23687080		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	27158780		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	9815576		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30569149		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28435450	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	25303977		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	26079862	Associate	★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	24038909, 29171923		★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sturge-Weber Syndrome	Sturge-Weber Syndrome	GENOMICS_ENGLAND_DG	14639529		★☆☆☆☆ Found in Text Mining only
Sturge-Weber Syndrome	Sturge-Weber Syndrome	ORPHANET_DG	18446851		★☆☆☆☆ Found in Text Mining only
Sturge-Weber Syndrome	Sturge-Weber Syndrome	BEFREE	20821215, 22200646, 23650393, 24038909, 26774077, 28454448, 29891884		★☆☆☆☆ Found in Text Mining only
SYNGAP1-related developmental and epileptic encephalopathy	Developmental And Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	28687708	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	22713807		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	26008146, 38275291	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	26499346		★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid Atresia	BEFREE	30507091		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25202123, 34168046	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25394563		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	12469204, 16288294, 19143643, 27493206		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12606953		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27101583	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	18446851, 25939597, 32843429	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29024832		★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	24139535	Associate	★☆☆☆☆ Found in Text Mining only
Vein of Galen aneurysm	Vein of galen aneurysm	Pubtator	18446851	Associate	★☆☆☆☆ Found in Text Mining only
Warburg Sjo Fledelius syndrome	Warburg Micro Syndrome	BEFREE	15696165		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	12600941		★☆☆☆☆ Found in Text Mining only
X-linked retinitis pigmentosa	Retinitis Pigmentosa, X-Linked	BEFREE	26936825		★☆☆☆☆ Found in Text Mining only