FLNA (filamin A)

Gene

• Entrez ID: 2316
• Gene name: Filamin A
• Gene symbol: FLNA
• Synonyms (NCBI Gene): ABP-280, ABPX, CSBS, CVD1, FGS2, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD
• Chromosome: X
• Chromosome location: Xq28
• Summary: The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28935169	T>A	Pathogenic	Coding sequence variant, missense variant
rs28935469	G>A	Pathogenic	Coding sequence variant, missense variant
rs28935470	C>T	Pathogenic	Coding sequence variant, missense variant
rs28935471	T>G	Pathogenic	Coding sequence variant, missense variant
rs28935472	C>T	Pathogenic	Coding sequence variant, missense variant
rs28935473	G>A	Pathogenic	Coding sequence variant, missense variant
rs56102764	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs61730768	G>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs80338837	G>T	Pathogenic	Coding sequence variant, missense variant
rs80338840	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338841	G>A	Pathogenic	Coding sequence variant, synonymous variant
rs112363874	T>A,G	Likely-pathogenic	Splice acceptor variant
rs137853310	G>A	Pathogenic	Coding sequence variant, stop gained
rs137853311	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853312	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137853313	G>C	Pathogenic	Coding sequence variant, missense variant
rs137853314	C>A	Pathogenic	Coding sequence variant, missense variant
rs137853315	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853316	C>A	Pathogenic	Coding sequence variant, missense variant
rs137853317	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs137853318	C>A	Pathogenic	Coding sequence variant, missense variant
rs137853319	G>A	Pathogenic, benign	Coding sequence variant, missense variant
rs182074603	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs186214592	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs188212919	G>A	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs199530601	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs199565118	G>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Intron variant
rs199853721	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Synonymous variant, coding sequence variant
rs199911951	C>A,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs200048692	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Synonymous variant, coding sequence variant
rs200053635	G>A	Conflicting-interpretations-of-pathogenicity, benign, not-provided, likely-benign	Missense variant, coding sequence variant
rs200130356	T>C	Benign-likely-benign, uncertain-significance, benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200200745	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200278701	C>T	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant
rs200524526	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs200626788	C>A,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs200660642	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Synonymous variant, coding sequence variant
rs201093148	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201153928	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs202029322	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs267606815	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs267606816	C>T	Pathogenic	Missense variant, coding sequence variant
rs267606817	A>T	Pathogenic	Missense variant, coding sequence variant
rs367674709	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs370196495	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs370202395	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs370490152	C>A,T	Likely-pathogenic, likely-benign	Missense variant, coding sequence variant, stop gained
rs370491691	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs370868704	C>T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs371501734	G>A	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs375205247	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs375503410	G>A,C	Likely-benign, likely-pathogenic, benign	Synonymous variant, stop gained, coding sequence variant
rs376461465	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376774130	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs387907371	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs398122521	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123614	G>A	Pathogenic	Stop gained, coding sequence variant
rs398123616	->G	Pathogenic	Frameshift variant, coding sequence variant
rs398123617	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398123619	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123620	->AT	Pathogenic	Frameshift variant, coding sequence variant
rs398123621	GA>TT	Pathogenic	Stop gained, coding sequence variant
rs398123622	G>C	Uncertain-significance, pathogenic	Intron variant
rs587780335	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs727503931	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs781910090	G>A,C	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs782121971	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs782129236	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782168634	G>A,T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782308324	G>A,C,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant, missense variant
rs782358007	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs782426283	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, likely-pathogenic	Coding sequence variant, missense variant
rs782518956	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782555986	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782591917	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs782669943	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs782670288	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs782739586	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782774182	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782806731	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs786200973	->TT	Pathogenic	Frameshift variant, coding sequence variant
rs786205177	C>A	Pathogenic	Splice acceptor variant
rs786205178	ACTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205180	CTTAT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205181	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205182	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs786205183	T>C	Pathogenic	Splice acceptor variant
rs786205186	C>G,T	Pathogenic	Splice donor variant
rs786205188	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205189	->ACGGGCCTTGACGT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205190	->TCCTGGAGGAGTGCAG	Likely-pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs786205191	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205194	GC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205197	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs786205198	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205199	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205201	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205202	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs786205203	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205204	C>T	Likely-pathogenic	Splice donor variant
rs797044690	ACGTTGAGG>GCCA	Pathogenic	Frameshift variant, coding sequence variant
rs797044724	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045044	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs797045163	C>G	Pathogenic	Missense variant, coding sequence variant
rs863223295	A>G	Pathogenic	Splice donor variant
rs863223296	C>T	Pathogenic	Splice donor variant
rs863223297	GGCCG>-	Pathogenic	Frameshift variant, coding sequence variant
rs863223298	GCACGCACG>-	Pathogenic	Inframe deletion, coding sequence variant
rs863223299	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs863223630	AAGT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863223632	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs863223633	->ACCC	Pathogenic	Frameshift variant, coding sequence variant
rs863223634	->G	Pathogenic	Frameshift variant, coding sequence variant
rs863223645	->G	Pathogenic	Frameshift variant, coding sequence variant
rs863223646	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886038987	ATGTTGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041710	CCGTCTCTGAGAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041771	G>A	Pathogenic	Stop gained, coding sequence variant
rs886044791	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886044824	G>A	Pathogenic	Stop gained, coding sequence variant
rs886044850	T>C	Pathogenic	Splice acceptor variant
rs1057515582	->TT	Pathogenic	Frameshift variant, coding sequence variant
rs1057515583	->TT	Pathogenic	Frameshift variant, coding sequence variant
rs1057515584	->ACAG	Pathogenic	Frameshift variant, coding sequence variant
rs1057516198	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057518109	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518223	C>T	Pathogenic-likely-pathogenic	Splice acceptor variant
rs1057518626	C>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1057524378	A>G	Likely-pathogenic	Splice donor variant
rs1060500716	G>A	Pathogenic	Missense variant, coding sequence variant
rs1060500717	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1060500718	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064795350	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1064795854	CC>T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064796297	T>C	Likely-pathogenic	Splice acceptor variant
rs1064796581	T>C	Pathogenic	Splice acceptor variant
rs1131691935	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1461148946	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1557175424	C>T	Likely-pathogenic	Splice donor variant
rs1557175789	T>A	Likely-pathogenic	Intron variant
rs1557176001	G>C	Pathogenic	Stop gained, coding sequence variant
rs1557176076	T>C	Pathogenic	Splice acceptor variant
rs1557176315	C>G	Likely-pathogenic	Splice donor variant
rs1557177086	GTGTAGCGACCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557177279	TTACCTCC>-	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1557177485	C>A	Likely-pathogenic	Splice acceptor variant
rs1557177623	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1557177636	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557177663	G>A	Pathogenic	Stop gained, coding sequence variant
rs1557177738	C>A	Pathogenic	Stop gained, coding sequence variant
rs1557178535	A>T	Pathogenic	Intron variant
rs1557178694	->T	Likely-pathogenic	Intron variant
rs1557179325	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs1557179349	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557179357	->TATTGGCGGT	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1557179536	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1557179659	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1557179684	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1557180206	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557180226	T>C	Pathogenic	Missense variant, coding sequence variant
rs1569551449	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1569551475	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569551502	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569551736	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569551783	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569551861	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1603358919	G>A	Pathogenic	Coding sequence variant, stop gained
rs1603359091	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1603359205	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603359417	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1603359464	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1603360542	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603360547	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603360906	C>T	Likely-pathogenic	Splice donor variant
rs1603361195	GGCCCAGGC>CCGA	Pathogenic	Coding sequence variant, frameshift variant
rs1603361851	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603362402	C>G	Pathogenic	Splice acceptor variant
rs1603362871	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020648	hsa-miR-155-5p	Proteomics	18668040
MIRT023757	hsa-miR-1-3p	Proteomics	18668040
MIRT023757	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT025777	hsa-miR-7-5p	Microarray	19073608
MIRT052184	hsa-let-7b-5p	CLASH	23622248
MIRT051288	hsa-miR-16-5p	CLASH	23622248
MIRT050582	hsa-miR-20a-5p	CLASH	23622248
MIRT050388	hsa-miR-23a-3p	CLASH	23622248
MIRT049870	hsa-miR-31-5p	CLASH	23622248
MIRT049560	hsa-miR-92a-3p	CLASH	23622248
MIRT049560	hsa-miR-92a-3p	CLASH	23622248
MIRT049560	hsa-miR-92a-3p	CLASH	23622248
MIRT048229	hsa-miR-196a-5p	CLASH	23622248
MIRT046888	hsa-miR-221-3p	CLASH	23622248
MIRT046811	hsa-miR-222-3p	CLASH	23622248
MIRT046250	hsa-miR-23b-3p	CLASH	23622248
MIRT046250	hsa-miR-23b-3p	CLASH	23622248
MIRT045578	hsa-miR-149-5p	CLASH	23622248
MIRT045578	hsa-miR-149-5p	CLASH	23622248
MIRT044384	hsa-miR-200c-3p	CLASH	23622248
MIRT043955	hsa-miR-378a-3p	CLASH	23622248
MIRT043388	hsa-miR-331-3p	CLASH	23622248
MIRT043054	hsa-miR-324-5p	CLASH	23622248
MIRT042059	hsa-miR-484	CLASH	23622248
MIRT042059	hsa-miR-484	CLASH	23622248
MIRT042059	hsa-miR-484	CLASH	23622248
MIRT041256	hsa-miR-193b-3p	CLASH	23622248
MIRT040564	hsa-miR-92b-3p	CLASH	23622248
MIRT040564	hsa-miR-92b-3p	CLASH	23622248
MIRT040564	hsa-miR-92b-3p	CLASH	23622248
MIRT039798	hsa-miR-615-3p	CLASH	23622248
MIRT039798	hsa-miR-615-3p	CLASH	23622248
MIRT039798	hsa-miR-615-3p	CLASH	23622248
MIRT039798	hsa-miR-615-3p	CLASH	23622248
MIRT440640	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440640	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT044384	hsa-miR-200c-3p	Luciferase reporter assay, Western blotting, qRT-PCR	31747409
MIRT998711	hsa-miR-1207-5p	CLIP-seq
MIRT998712	hsa-miR-1234	CLIP-seq
MIRT998713	hsa-miR-1253	CLIP-seq
MIRT998714	hsa-miR-125a-3p	CLIP-seq
MIRT998715	hsa-miR-146a	CLIP-seq
MIRT998716	hsa-miR-146b-5p	CLIP-seq
MIRT998717	hsa-miR-1827	CLIP-seq
MIRT998718	hsa-miR-1908	CLIP-seq
MIRT998719	hsa-miR-1909	CLIP-seq
MIRT998720	hsa-miR-3064-5p	CLIP-seq
MIRT998721	hsa-miR-3135b	CLIP-seq
MIRT998722	hsa-miR-3141	CLIP-seq
MIRT998723	hsa-miR-3150a-3p	CLIP-seq
MIRT998724	hsa-miR-3175	CLIP-seq
MIRT998725	hsa-miR-3177-3p	CLIP-seq
MIRT998726	hsa-miR-3180	CLIP-seq
MIRT998727	hsa-miR-3180-3p	CLIP-seq
MIRT998728	hsa-miR-3184	CLIP-seq
MIRT998729	hsa-miR-3196	CLIP-seq
MIRT998730	hsa-miR-339-3p	CLIP-seq
MIRT998731	hsa-miR-3612	CLIP-seq
MIRT998732	hsa-miR-3652	CLIP-seq
MIRT998733	hsa-miR-3665	CLIP-seq
MIRT998734	hsa-miR-3925-5p	CLIP-seq
MIRT998735	hsa-miR-3937	CLIP-seq
MIRT998736	hsa-miR-423-5p	CLIP-seq
MIRT998737	hsa-miR-4271	CLIP-seq
MIRT998738	hsa-miR-4430	CLIP-seq
MIRT998739	hsa-miR-4434	CLIP-seq
MIRT998740	hsa-miR-4436b-3p	CLIP-seq
MIRT998741	hsa-miR-4469	CLIP-seq
MIRT998742	hsa-miR-4505	CLIP-seq
MIRT998743	hsa-miR-4508	CLIP-seq
MIRT998744	hsa-miR-4516	CLIP-seq
MIRT998745	hsa-miR-4531	CLIP-seq
MIRT998746	hsa-miR-4667-5p	CLIP-seq
MIRT998747	hsa-miR-4685-5p	CLIP-seq
MIRT998748	hsa-miR-4700-5p	CLIP-seq
MIRT998749	hsa-miR-4725-3p	CLIP-seq
MIRT998750	hsa-miR-4731-5p	CLIP-seq
MIRT998751	hsa-miR-4736	CLIP-seq
MIRT998752	hsa-miR-4763-3p	CLIP-seq
MIRT998753	hsa-miR-4767	CLIP-seq
MIRT998754	hsa-miR-4792	CLIP-seq
MIRT998755	hsa-miR-503	CLIP-seq
MIRT998756	hsa-miR-542-3p	CLIP-seq
MIRT998757	hsa-miR-642a	CLIP-seq
MIRT998758	hsa-miR-647	CLIP-seq
MIRT998759	hsa-miR-650	CLIP-seq
MIRT998760	hsa-miR-661	CLIP-seq
MIRT998761	hsa-miR-663	CLIP-seq
MIRT998762	hsa-miR-744	CLIP-seq
MIRT998763	hsa-miR-939	CLIP-seq
MIRT998764	hsa-miR-940	CLIP-seq
MIRT998765	hsa-miR-1225-5p	CLIP-seq
MIRT998766	hsa-miR-1275	CLIP-seq
MIRT998718	hsa-miR-1908	CLIP-seq
MIRT998720	hsa-miR-3064-5p	CLIP-seq
MIRT998767	hsa-miR-3132	CLIP-seq
MIRT998722	hsa-miR-3141	CLIP-seq
MIRT998723	hsa-miR-3150a-3p	CLIP-seq
MIRT998724	hsa-miR-3175	CLIP-seq
MIRT998728	hsa-miR-3184	CLIP-seq
MIRT998732	hsa-miR-3652	CLIP-seq
MIRT998736	hsa-miR-423-5p	CLIP-seq
MIRT998737	hsa-miR-4271	CLIP-seq
MIRT998738	hsa-miR-4430	CLIP-seq
MIRT998768	hsa-miR-4488	CLIP-seq
MIRT998742	hsa-miR-4505	CLIP-seq
MIRT998743	hsa-miR-4508	CLIP-seq
MIRT998769	hsa-miR-4665-5p	CLIP-seq
MIRT998746	hsa-miR-4667-5p	CLIP-seq
MIRT998770	hsa-miR-4697-5p	CLIP-seq
MIRT998748	hsa-miR-4700-5p	CLIP-seq
MIRT998749	hsa-miR-4725-3p	CLIP-seq
MIRT998750	hsa-miR-4731-5p	CLIP-seq
MIRT998771	hsa-miR-4781-5p	CLIP-seq
MIRT998772	hsa-miR-486-3p	CLIP-seq
MIRT998761	hsa-miR-663	CLIP-seq
MIRT998762	hsa-miR-744	CLIP-seq
MIRT998763	hsa-miR-939	CLIP-seq
MIRT998720	hsa-miR-3064-5p	CLIP-seq
MIRT998723	hsa-miR-3150a-3p	CLIP-seq
MIRT998724	hsa-miR-3175	CLIP-seq
MIRT998732	hsa-miR-3652	CLIP-seq
MIRT998738	hsa-miR-4430	CLIP-seq
MIRT998742	hsa-miR-4505	CLIP-seq
MIRT998746	hsa-miR-4667-5p	CLIP-seq
MIRT998748	hsa-miR-4700-5p	CLIP-seq
MIRT998750	hsa-miR-4731-5p	CLIP-seq
MIRT998763	hsa-miR-939	CLIP-seq
MIRT998714	hsa-miR-125a-3p	CLIP-seq
MIRT998717	hsa-miR-1827	CLIP-seq
MIRT998720	hsa-miR-3064-5p	CLIP-seq
MIRT998723	hsa-miR-3150a-3p	CLIP-seq
MIRT998724	hsa-miR-3175	CLIP-seq
MIRT998730	hsa-miR-339-3p	CLIP-seq
MIRT998731	hsa-miR-3612	CLIP-seq
MIRT998732	hsa-miR-3652	CLIP-seq
MIRT998733	hsa-miR-3665	CLIP-seq
MIRT998738	hsa-miR-4430	CLIP-seq
MIRT998742	hsa-miR-4505	CLIP-seq
MIRT998746	hsa-miR-4667-5p	CLIP-seq
MIRT998748	hsa-miR-4700-5p	CLIP-seq
MIRT998750	hsa-miR-4731-5p	CLIP-seq
MIRT998751	hsa-miR-4736	CLIP-seq
MIRT998754	hsa-miR-4792	CLIP-seq
MIRT998759	hsa-miR-650	CLIP-seq
MIRT998763	hsa-miR-939	CLIP-seq
MIRT998764	hsa-miR-940	CLIP-seq
MIRT998711	hsa-miR-1207-5p	CLIP-seq
MIRT998719	hsa-miR-1909	CLIP-seq
MIRT998725	hsa-miR-3177-3p	CLIP-seq
MIRT998726	hsa-miR-3180	CLIP-seq
MIRT998727	hsa-miR-3180-3p	CLIP-seq
MIRT998729	hsa-miR-3196	CLIP-seq
MIRT998730	hsa-miR-339-3p	CLIP-seq
MIRT998735	hsa-miR-3937	CLIP-seq
MIRT998740	hsa-miR-4436b-3p	CLIP-seq
MIRT998752	hsa-miR-4763-3p	CLIP-seq
MIRT998754	hsa-miR-4792	CLIP-seq
MIRT998756	hsa-miR-542-3p	CLIP-seq
MIRT998711	hsa-miR-1207-5p	CLIP-seq
MIRT998765	hsa-miR-1225-5p	CLIP-seq
MIRT998712	hsa-miR-1234	CLIP-seq
MIRT998714	hsa-miR-125a-3p	CLIP-seq
MIRT1995959	hsa-miR-1273g	CLIP-seq
MIRT998766	hsa-miR-1275	CLIP-seq
MIRT998717	hsa-miR-1827	CLIP-seq
MIRT998718	hsa-miR-1908	CLIP-seq
MIRT998719	hsa-miR-1909	CLIP-seq
MIRT1995960	hsa-miR-1913	CLIP-seq
MIRT998720	hsa-miR-3064-5p	CLIP-seq
MIRT998767	hsa-miR-3132	CLIP-seq
MIRT998722	hsa-miR-3141	CLIP-seq
MIRT998723	hsa-miR-3150a-3p	CLIP-seq
MIRT998724	hsa-miR-3175	CLIP-seq
MIRT998725	hsa-miR-3177-3p	CLIP-seq
MIRT1995961	hsa-miR-3177-5p	CLIP-seq
MIRT998728	hsa-miR-3184	CLIP-seq
MIRT1995962	hsa-miR-323b-5p	CLIP-seq
MIRT1995963	hsa-miR-324-3p	CLIP-seq
MIRT998730	hsa-miR-339-3p	CLIP-seq
MIRT998731	hsa-miR-3612	CLIP-seq
MIRT998732	hsa-miR-3652	CLIP-seq
MIRT998733	hsa-miR-3665	CLIP-seq
MIRT998735	hsa-miR-3937	CLIP-seq
MIRT998736	hsa-miR-423-5p	CLIP-seq
MIRT998737	hsa-miR-4271	CLIP-seq
MIRT998738	hsa-miR-4430	CLIP-seq
MIRT998740	hsa-miR-4436b-3p	CLIP-seq
MIRT998741	hsa-miR-4469	CLIP-seq
MIRT998768	hsa-miR-4488	CLIP-seq
MIRT998742	hsa-miR-4505	CLIP-seq
MIRT998743	hsa-miR-4508	CLIP-seq
MIRT998769	hsa-miR-4665-5p	CLIP-seq
MIRT998746	hsa-miR-4667-5p	CLIP-seq
MIRT998747	hsa-miR-4685-5p	CLIP-seq
MIRT998770	hsa-miR-4697-5p	CLIP-seq
MIRT1995964	hsa-miR-4700-3p	CLIP-seq
MIRT998748	hsa-miR-4700-5p	CLIP-seq
MIRT998749	hsa-miR-4725-3p	CLIP-seq
MIRT998750	hsa-miR-4731-5p	CLIP-seq
MIRT998751	hsa-miR-4736	CLIP-seq
MIRT998752	hsa-miR-4763-3p	CLIP-seq
MIRT998753	hsa-miR-4767	CLIP-seq
MIRT998771	hsa-miR-4781-5p	CLIP-seq
MIRT998754	hsa-miR-4792	CLIP-seq
MIRT998772	hsa-miR-486-3p	CLIP-seq
MIRT998755	hsa-miR-503	CLIP-seq
MIRT998756	hsa-miR-542-3p	CLIP-seq
MIRT1995965	hsa-miR-564	CLIP-seq
MIRT998757	hsa-miR-642a	CLIP-seq
MIRT998759	hsa-miR-650	CLIP-seq
MIRT998760	hsa-miR-661	CLIP-seq
MIRT998761	hsa-miR-663	CLIP-seq
MIRT998762	hsa-miR-744	CLIP-seq
MIRT998763	hsa-miR-939	CLIP-seq
MIRT998764	hsa-miR-940	CLIP-seq
MIRT998711	hsa-miR-1207-5p	CLIP-seq
MIRT998714	hsa-miR-125a-3p	CLIP-seq
MIRT998717	hsa-miR-1827	CLIP-seq
MIRT998719	hsa-miR-1909	CLIP-seq
MIRT998720	hsa-miR-3064-5p	CLIP-seq
MIRT998723	hsa-miR-3150a-3p	CLIP-seq
MIRT998724	hsa-miR-3175	CLIP-seq
MIRT998725	hsa-miR-3177-3p	CLIP-seq
MIRT998726	hsa-miR-3180	CLIP-seq
MIRT998727	hsa-miR-3180-3p	CLIP-seq
MIRT998729	hsa-miR-3196	CLIP-seq
MIRT998730	hsa-miR-339-3p	CLIP-seq
MIRT998731	hsa-miR-3612	CLIP-seq
MIRT998732	hsa-miR-3652	CLIP-seq
MIRT998733	hsa-miR-3665	CLIP-seq
MIRT998738	hsa-miR-4430	CLIP-seq
MIRT998740	hsa-miR-4436b-3p	CLIP-seq
MIRT998742	hsa-miR-4505	CLIP-seq
MIRT998746	hsa-miR-4667-5p	CLIP-seq
MIRT998748	hsa-miR-4700-5p	CLIP-seq
MIRT998750	hsa-miR-4731-5p	CLIP-seq
MIRT998751	hsa-miR-4736	CLIP-seq
MIRT998752	hsa-miR-4763-3p	CLIP-seq
MIRT998754	hsa-miR-4792	CLIP-seq
MIRT998756	hsa-miR-542-3p	CLIP-seq
MIRT998759	hsa-miR-650	CLIP-seq
MIRT998763	hsa-miR-939	CLIP-seq
MIRT998764	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IPI	26460884
GO:0002102	Component	Podosome	IEA
GO:0002102	Component	Podosome	ISS
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	4044584, 9722563, 10051605, 10604475, 10692483, 12393796, 12577067, 14573758, 15684392, 16076904, 16291724, 16862148, 17408621, 17474147, 17690686, 18177638, 18322202, 19828450, 20236936, 21228480, 21524097, 21653829, 21914078, 21926999, 22121117, 24021649, 25241761, 25358863, 25416
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IDA	15684392
GO:0005730	Component	Nucleolus	IMP	22307607
GO:0005737	Component	Cytoplasm	IDA	15684392, 21914078, 25468996
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IEA
GO:0005886	Component	Plasma membrane	IDA	18322202
GO:0005911	Component	Cell-cell junction	IDA	16291724
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005938	Component	Cell cortex	IEA
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IMP	10692483
GO:0007597	Process	Blood coagulation, intrinsic pathway	NAS	16293600
GO:0010572	Process	Positive regulation of platelet activation	NAS	16293600
GO:0015459	Function	Potassium channel regulator activity	IDA	24951510
GO:0015629	Component	Actin cytoskeleton	IC	2391361
GO:0015629	Component	Actin cytoskeleton	IDA	25358863
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016479	Process	Negative regulation of transcription by RNA polymerase I	IDA	22307607
GO:0019900	Function	Kinase binding	IPI	20713593
GO:0021943	Process	Formation of radial glial scaffolds	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030018	Component	Z disc	ISS	24951510
GO:0030030	Process	Cell projection organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	IDA	10051605
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030334	Process	Regulation of cell migration	IDA	16291724
GO:0030426	Component	Growth cone	IEA
GO:0030863	Component	Cortical cytoskeleton	IEA
GO:0031267	Function	Small GTPase binding	IDA	10051605
GO:0031523	Component	Myb complex	IDA	18548008
GO:0032233	Process	Positive regulation of actin filament bundle assembly	IEA
GO:0034394	Process	Protein localization to cell surface	IDA	18322202
GO:0034988	Function	Fc-gamma receptor I complex binding	IDA	1833070
GO:0035855	Process	Megakaryocyte development	NAS	16293600
GO:0042177	Process	Negative regulation of protein catabolic process	IMP	18322202
GO:0042307	Process	Positive regulation of protein import into nucleus	IMP	15684392
GO:0042789	Process	MRNA transcription by RNA polymerase II	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	2391361
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	18177638
GO:0043113	Process	Receptor clustering	IDA	10692483
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	HMP	12761501
GO:0043198	Component	Dendritic shaft	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IDA	15684392
GO:0044319	Process	Wound healing, spreading of cells	IDA	16291724
GO:0044325	Function	Transmembrane transporter binding	IPI	24951510
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045184	Process	Establishment of protein localization	IDA	18322202
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046332	Function	SMAD binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050821	Process	Protein stabilization	IMP	18322202
GO:0051015	Function	Actin filament binding	IDA	2391361, 3138234, 4044584, 25358863
GO:0051015	Function	Actin filament binding	IEA
GO:0051020	Function	GTPase binding	IPI	16291724
GO:0051209	Process	Release of sequestered calcium ion into cytosol	NAS	16293600
GO:0051764	Process	Actin crosslink formation	IDA	10051605
GO:0060271	Process	Cilium assembly	IMP	22121117
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 21362503, 23533145
GO:0070161	Component	Anchoring junction	IEA
GO:0070527	Process	Platelet aggregation	HMP	23382103
GO:0071526	Process	Semaphorin-plexin signaling pathway	IGI	25358863
GO:0072659	Process	Protein localization to plasma membrane	IDA	24951510
GO:0090042	Process	Tubulin deacetylation	IMP	26157139
GO:0090307	Process	Mitotic spindle assembly	IDA	18548008
GO:0097368	Process	Establishment of Sertoli cell barrier	IEA
GO:0097440	Component	Apical dendrite	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	15684392
GO:0140311	Function	Protein sequestering activity	IMP	17536008
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IMP	18177638
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IDA	24951510
GO:1902396	Process	Protein localization to bicellular tight junction	IEA
GO:1905000	Process	Regulation of membrane repolarization during atrial cardiac muscle cell action potential	IC
GO:1905031	Process	Regulation of membrane repolarization during cardiac muscle cell action potential	ISS	24951510
GO:1990779	Component	Glycoprotein Ib-IX-V complex	NAS	16293600
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IEA
GO:2001046	Process	Positive regulation of integrin-mediated signaling pathway	IMP	18177638
GO:2001224	Process	Positive regulation of neuron migration	IEA

Other IDs

• MIM: 300017
• HGNC: 3754
• e!Ensembl: ENSG00000196924

Protein

• UniProt ID: P21333
• Protein name: Filamin-A (FLN-A) (Actin-binding protein 280) (ABP-280) (Alpha-filamin) (Endothelial actin-binding protein) (Filamin-1) (Non-muscle filamin)
• Protein function: Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. I
• PDB: 2AAV, 2BP3, 2BRQ, 2J3S, 2JF1, 2K3T, 2K7P, 2K7Q, 2MTP, 2W0P, 2WFN, 3CNK, 3HOC, 3HOP, 3HOR, 3ISW, 3RGH, 4M9P, 4P3W, 5XR1, 6D8C, 6EW1, 7SC4, 7SFT, 9LWX, 9LXG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	43 → 150	Calponin homology (CH) domain	Domain
  PF00307	CH	166 → 270	Calponin homology (CH) domain	Domain
  PF00630	Filamin	278 → 371	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	378 → 471	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	477 → 567	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	573 → 660	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	669 → 760	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	766 → 863	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	869 → 962	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	968 → 1058	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1064 → 1151	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1157 → 1246	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1252 → 1346	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1352 → 1439	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1445 → 1536	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1542 → 1633	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1639 → 1737	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1773 → 1857	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1862 → 1949	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2044 → 2131	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2143 → 2227	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2235 → 2322	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2329 → 2417	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2426 → 2513	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2554 → 2643	Filamin/ABP280 repeat	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MSSSHSRAGQSAAGAAPGGGVDTRDAEMPATEKDLAEDAPWKKIQQNTFTRWCNEHLKCV
  SKRIANLQTDLSDGLRLIALLEVLSQKKMHRKHNQRPTFRQMQLENVSVALEFLDRESIK
  LVSIDSKAIVDGNLKLILGLIWTLILHYSISMPMWDEEEDEEAKKQTPKQRLLGWIQNKL
  PQLPITNFSRDWQSGRALGALVDSCAPGLCPDWDSWDASKPVTNAREAMQQADDWLGIPQ
  VITPEEIVDPNVDEHSVMTYLSQFPKAKLKPGAPLRPKLNPKKARAYGPGIEPTGNMVKK
  RAEFTVETRSAGQGEVLVYVEDPAGHQEEAKVTANNDKNRTFSVWYVPEVTGTHKVTVLF
  AGQHIAKSPFEVYVDKSQGDASKVTAQGPGLEPSGNIANKTTYFEIFTAGAGTGEVEVVI
  QDPMGQKGTVEPQLEARGDSTYRCSYQPTMEGVHTVHVTFAGVPIPRSPYTVTVGQACNP
  SACRAVGRGLQPKGVRVKETADFKVYTKGAGSGELKVTVKGPKGEERVKQKDLGDGVYGF
  EYYPMVPGTYIVTITWGGQNIGRSPFEVKVGTECGNQKVRAWGPGLEGGVVGKSADFVVE
  AIGDDVGTLGFSVEGPSQAKIECDDKGDGSCDVRYWPQEAGEYAVHVLCNSEDIRLSPFM
  ADIRDAPQDFHPDRVKARGPGLEKTGVAVNKPAEFTVDAKHGGKAPLRVQVQDNEGCPVE
  ALVKDNGNGTYSCSYVPRKPVKHTAMVSWGGVSIPNSPFRVNVGAGSHPNKVKVYGPGVA
  KTGLKAHEPTYFTVDCAEAGQGDVSIGIKCAPGVVGPAEADIDFDIIRNDNDTFTVKYTP
  RGAGSYTIMVLFADQATPTSPIRVKVEPSHDASKVKAEGPGLSRTGVELGKPTHFTVNAK
  AAGKGKLDVQFSGLTKGDAVRDVDIIDHHDNTYTVKYTPVQQGPVGVNVTYGGDPIPKSP
  FSVAVSPSLDLSKIKVSGLGEKVDVGKDQEFTVKSKGAGGQGKVASKIVGPSGAAVPCKV
  EPGLGADNSVVRFLPREEGPYEVEVTYDGVPVPGSPFPLEAVAPTKPSKVKAFGPGLQGG
  SAGSPARFTIDTKGAGTGGLGLTVEGPCEAQLECLDNGDGTCSVSYVPTEPGDYNINILF
  ADTHIPGSPFKAHVVPCFDASKVKCSGPGLERATAGEVGQFQVDCSSAGSAELTIEICSE
  AGLPAEVYIQDHGDGTHTITYIPLCPGAYTVTIKYGGQPVPNFPSKLQVEPAVDTSGVQC
  YGPGIEGQGVFREATTEFSVDARALTQTGGPHVKARVANPSGNLTETYVQDRGDGMYKVE
  YTPYEEGLHSVDVTYDGSPVPSSPFQVPVTEGCDPSRVRVHGPGIQSGTTNKPNKFTVET
  RGAGTGGLGLAVEGPSEAKMSCMDNKDGSCSVEYIPYEAGTYSLNVTYGGHQVPGSPFKV
  PVHDVTDASKVKCSGPGLSPGMVRANLPQSFQVDTSKAGVAPLQVKVQGPKGLVEPVDVV
  DNADGTQTVNYVPSREGPYSISVLYGDEEVPRSPFKVKVLPTHDASKVKASGPGLNTTGV
  PASLPVEFTIDAKDAGEGLLAVQITDPEGKPKKTHIQDNHDGTYTVAYVPDVTGRYTILI
  KYGGDEIPFSPYRVRAVPTGDASKCTVTVSIGGHGLGAGIGPTIQIGEETVITVDTKAAG
  KGKVTCTVCTPDGSEVDVDVVENEDGTFDIFYTAPQPGKYVICVRFGGEHVPNSPFQVTA
  LAGDQPSVQPPLRSQQLAPQYTYAQGGQQTWAPERPLVGVNGLDVTSLRPFDLVIPFTIK
  KGEITGEVRMPSGKVAQPTITDNKDGTVTVRYAPSEAGLHEMDIRYDNMHIPGSPLQFYV
  DYVNCGHVTAYGPGLTHGVVNKPATFTVNTKDAGEGGLSLAIEGPSKAEISCTDNQDGTC
  SVSYLPVLPGDYSILVKYNEQHVPGSPFTARVTGDDSMRMSHLKVGSAADIPINISETDL
  SLLTATVVPPSGREEPCLLKRLRNGHVGISFVPKETGEHLVHVKKNGQHVASSPIPVVIS
  QSEIGDASRVRVSGQGLHEGHTFEPAEFIIDTRDAGYGGLSLSIEGPSKVDINTEDLEDG
  TCRVTYCPTEPGNYIINIKFADQHVPGSPFSVKVTGEGRVKESITRRRRAPSVANVGSHC
  DLSLKIPEISIQDMTAQVTSPSGKTHEAEIVEGENHTYCIRFVPAEMGTHTVSVKYKGQH
  VPGSPFQFTVGPLGEGGAHKVRAGGPGLERAEAGVPAEFSIWTREAGAGGLAIAVEGPSK
  AEISFEDRKDGSCGVAYVVQEPGDYEVSVKFNEEHIPDSPFVVPVASPSGDARRLTVSSL
  QESGLKVNQPASFAVSLNGAKGAIDAKVHSPSGALEECYVTEIDQDKYAVRFIPRENGVY
  LIDVKFNGTHIPGSPFKIRVGEPGHGGDPGLVSAYGAGLEGGVTGNPAEFVVNTSNAGAG
  ALSVTIDGPSKVKMDCQECPEGYRVTYTPMAPGSYLISIKYGGPYHIGGSPFKAKVTGPR
  LVSNHSLHETSSVFVDSLTKATCAPQHGAPGPGPADASKVVAKGLGLSKAYVGQKSSFTV
  DCSKAGNNMLLVGVHGPRTPCEEILVKHVGSRLYSVSYLLKDKGEYTLVVKWGDEHIPGS
  PYRVVVP

• Sequence length: 2647

Pathways

KEGG:

MAPK signaling pathway
Focal adhesion
Salmonella infection
Proteoglycans in cancer

Reactome:

Platelet degranulation
GP1b-IX-V activation signalling
Cell-extracellular matrix interactions
RHO GTPases activate PAKs
OAS antiviral response

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
Abnormal cerebral morphology	Pathogenic	rs2148106461	RCV002275907	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the face	Likely pathogenic; Pathogenic	rs398123614	RCV002226662	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arterial thrombosis	Likely pathogenic	rs1557175789	RCV000626750	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arterial tortuosity	Likely pathogenic	rs1557175789	RCV000626750	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Attenuated frontometaphyseal dysplasia	Likely pathogenic	rs2148104272, rs111306884	RCV001638057 RCV001638058	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiac valvular dysplasia, X-linked	Likely pathogenic; Pathogenic	rs797045044, rs267606815, rs267606816, rs267606817, rs1603362402, rs1603360542, rs2067676994, rs782178831, rs2067774568	RCV000191086 RCV000012543 RCV000012544 RCV000012545 RCV000787477 RCV000787478 RCV001253331 RCV001197823 RCV001198242 RCV001196296	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cleft palate	Likely pathogenic; Pathogenic	rs28935469	RCV000415125	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Conductive hearing impairment	Likely pathogenic; Pathogenic	rs28935469	RCV000415125	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CONGENITAL SHORT BOWEL SYNDROME, X-LINKED	Pathogenic	rs398122521	RCV000043474	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysplastic corpus callosum	Pathogenic	rs2148100379	RCV001829382	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Pathogenic; Likely pathogenic	rs782312089, rs2148104758, rs2522726871, rs2522764531, rs2522715027, rs2522740030, rs886038987, rs28935469, rs387907371, rs2522713003, rs2522765267, rs1557179684, rs1603360542	RCV005562676 RCV006392094 RCV002347065 RCV002362370 RCV002370738 RCV004095141 RCV002310927 RCV002354156 RCV006386747 RCV004823229 RCV004389451 RCV002313361 RCV004822196	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FG syndrome 2	Likely pathogenic	rs2522741180	RCV001255837	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FLNA related lung disease	Likely pathogenic; Pathogenic	rs375503410, rs1569551783	RCV000761278 RCV000761292	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FLNA-related disorder	Pathogenic; Likely pathogenic	rs2067650699, rs786205204, rs28935469, rs2522760720, rs2522771899, rs2522753919, rs782805682, rs2522733678, rs2522719482, rs2522771398, rs2522719685, rs2522760708, rs2522771783	RCV005863418 RCV004545753 RCV004545725 RCV004545855 RCV004545866 RCV004527828 RCV004539007 RCV004528043 RCV004528053 RCV004529295 RCV004529301 RCV004528008 RCV004528715	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontometaphyseal dysplasia	Likely pathogenic; Pathogenic	rs2148118126, rs2148119316, rs2148103917, rs2148104615, rs1557176615, rs2148111417, rs1557178045, rs2148113628, rs2148118942, rs2148118964, rs2148119354, rs2148121859, rs2148104651, rs2148101228, rs2148103458, rs2148118072, rs2148102980, rs2148116288, rs2148119182, rs2148113604, rs2148111202, rs2148104376, rs1447594194, rs2148103004, rs2148115776, rs2148114051, rs1557175424, rs782121971, rs786205178, rs2522763814, rs797045044, rs2522771473, rs2522735557, rs863223636, rs863223630, rs2522749173, rs2522715055, rs2522771792, rs2522714066, rs2522719819, rs2522771411, rs782308324, rs28935169, rs28935469, rs28935470, rs28935473, rs137853312, rs387907371, rs267606816, rs2522765595, rs2522726645, rs2522713003, rs2522728586, rs1557175101, rs111243479, rs2522771731, rs2522761716, rs2522757689, rs782152127, rs2522762487, rs2522721718, rs2522740258, rs2522753973, rs2522740256, rs2522724685, rs2522721432, rs1060500716, rs1060500717, rs112363874, rs1060500718, rs1557177663, rs1557175195, rs1557177485, rs1557177086, rs1557179357, rs1557177279, rs1557179325, rs1557177636, rs1557177738, rs1557176315, rs1557177623, rs1569551861, rs1569551502, rs786205186, rs1603358246, rs1603359464, rs1603361195, rs1603361851, rs1603360906, rs1603362871, rs2067597172, rs1359141531, rs2067760741, rs2067763458, rs2067713488, rs2067762985, rs2067602034, rs2067693064, rs2067741257, rs2067626336, rs781789823, rs2067723474, rs2067761804, rs398123614, rs186214592	RCV001378079 RCV001379671 RCV001383480 RCV001385560 RCV001386195 RCV001389364 RCV001389179 RCV001382474 RCV001384167 RCV001382283 RCV001384742 RCV001381558 RCV001892782 RCV001917832 RCV001950812 RCV001982372 RCV002010697 RCV001972631 RCV002021923 RCV002007545 RCV001951125 RCV001995963 RCV001950162 RCV001953626 RCV001918386 RCV001984611 RCV002045185 RCV002571581 RCV003765061 RCV002745608 RCV000794294 RCV002898889 RCV002889880 RCV003765249 RCV002517180 RCV002962362 RCV003034077 RCV003027422 RCV003047382 RCV003057220 RCV003040916 RCV001224993 RCV003764561 RCV003764562 RCV001851804 RCV001382364 RCV002228026 RCV001205323 RCV005222681 RCV003783797 RCV003783008 RCV003807755 RCV003804462 RCV003805584 RCV003803469 RCV003804259 RCV003800209 RCV003808435 RCV003801983 RCV003802297 RCV003817853 RCV003815728 RCV003809539 RCV003815440 RCV003815636 RCV003812897 RCV002230317 RCV001387919 RCV001379313 RCV002230318 RCV003766799 RCV000536029 RCV002231779 RCV002232264 RCV002232270 RCV002232261 RCV002529037 RCV002232798 RCV000640729 RCV002233040 RCV002233306 RCV002232970 RCV002234087 RCV002233328 RCV000807730 RCV002234739 RCV002537459 RCV002235337 RCV002235125 RCV003769410 RCV001059893 RCV001061715 RCV001071657 RCV001058596 RCV001065114 RCV001043643 RCV001207731 RCV001211252 RCV001210380 RCV001238854 RCV001232709 RCV001232992 RCV001241863 RCV001380531 RCV003764758	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontometaphyseal dysplasia 1	Pathogenic; Likely pathogenic	rs28935471, rs137853312, rs2522712579	RCV000012523 RCV000012527 RCV003512235	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic; Pathogenic	rs28935469	RCV005887456	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs398123614	RCV002226662	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME	Pathogenic	rs797045163	RCV000191017	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED, WITH FRONTOMETAPHYSEAL DYSPLASIA	Pathogenic	rs2148101204	RCV000012526	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heterotopia, periventricular, X-linked dominant	Pathogenic; Likely pathogenic	rs2067639563, rs782312089, rs2148118126, rs2148119316, rs2148103917, rs2148104615, rs1557176615, rs2148111417, rs1557178045, rs2148113628, rs2148118942, rs2148118964, rs2148119354, rs2148121859, rs2148121932, rs2148104651, rs2148101228, rs2148103458, rs2148118072, rs2148102980, rs2148116288, rs2148119182, rs2148113604, rs2148111202, rs2148104376, rs1447594194, rs2148103004, rs2148115776, rs2148114051, rs1557175424, rs2148115834, rs2148114607, rs2522726926, rs782121971, rs786205178, rs786205202, rs786205201, rs786205199, rs786205198, rs786205197, rs786205194, rs786205191, rs786205190, rs786205189, rs786205188, rs786205186, rs786205183, rs786205182, rs786205177, rs786205180, rs370490152, rs786205204, rs786205203, rs786205181, rs2522763814, rs797045044, rs2522771473, rs2522735557, rs863223636, rs863223630, rs2522749173, rs2522715055, rs2522771792, rs2522714066, rs2522719819, rs2522771411, rs782308324, rs2522713596, rs2522741003, rs137853310, rs863223295, rs863223296, rs863223297, rs781910090, rs28935169, rs28935469, rs28935470, rs28935473, rs137853312, rs1569551736, rs863223299, rs137853313, rs137853315, rs387907371, rs267606816, rs2522761063, rs2522711086, rs2522745674, rs2522771786, rs2522765595, rs2522726645, rs2522713003, rs2522728586, rs1557175101, rs111243479, rs2522771731, rs2522761716, rs2522757689, rs782152127, rs2522762487, rs2522721718, rs2522740258, rs2522753973, rs2522740256, rs2522724685, rs2522721432, rs1057516198, rs398122812, rs1060500716, rs1060500717, rs112363874, rs1060500718, rs1557177663, rs1557175195, rs1557177485, rs1557177086, rs1557179357, rs1557177279, rs1557178535, rs1557179325, rs1557180226, rs1557177636, rs1557177738, rs1557176315, rs1569551449, rs1557177623, rs1569551861, rs1569551502, rs1603358246, rs1603359464, rs1603361195, rs1603361851, rs1603360906, rs1603358919, rs1603362871, rs2067597172, rs1359141531, rs2067760741, rs2067763458, rs2067713488, rs2067762985, rs782178831, rs2067602034, rs2067693064, rs2067741257, rs2067626336, rs781789823, rs2067723474, rs2067761804, rs2067802877, rs398123614, rs398123620, rs186214592	RCV001310273 RCV001594420 RCV001378079 RCV001379671 RCV001383480 RCV001385560 RCV001386195 RCV001389364 RCV001389179 RCV001382474 RCV001384167 RCV001382283 RCV001384742 RCV001381558 RCV001806363 RCV001892782 RCV001917832 RCV001950812 RCV001982372 RCV002010697 RCV001972631 RCV002021923 RCV002007545 RCV001951125 RCV001995963 RCV001950162 RCV001953626 RCV001918386 RCV001984611 RCV002045185 RCV002251116 RCV002267691 RCV002468712 RCV002571581 RCV000170398 RCV000170424 RCV000170423 RCV000170421 RCV000170420 RCV000170419 RCV000170416 RCV000170412 RCV000170411 RCV000170410 RCV000170409 RCV000170407 RCV000170404 RCV000170403 RCV000170397 RCV000170400 RCV000170399 RCV000170426 RCV000170425 RCV000170401 RCV002745608 RCV000794294 RCV002898889 RCV002889880 RCV003333048 RCV002517180 RCV002962362 RCV003034077 RCV003027422 RCV003047382 RCV003057220 RCV003040916 RCV001224993 RCV003326043 RCV003223383 RCV003224917 RCV000012513 RCV000012514 RCV000012516 RCV000012517 RCV000012519 RCV000012520 RCV003764562 RCV001851804 RCV001382364 RCV002228026 RCV000012529 RCV000012530 RCV000012531 RCV000012533 RCV001292939 RCV005222681 RCV003337810 RCV003389027 RCV003389028 RCV003639372 RCV003783797 RCV003783008 RCV003807755 RCV003804462 RCV003805584 RCV003803469 RCV003804259 RCV003800209 RCV003808435 RCV003801983 RCV003802297 RCV003817853 RCV003815728 RCV003809539 RCV003815440 RCV003815636 RCV003812897 RCV000408810 RCV000022819 RCV002230317 RCV001387919 RCV001379313 RCV002230318 RCV003766799 RCV000656111 RCV000536029 RCV002231779 RCV002232264 RCV002232270 RCV002232261 RCV000577901 RCV000577926 RCV000577884 RCV002232798 RCV000640729 RCV002233040 RCV000681483 RCV002233306 RCV002232970 RCV002234087 RCV002233328 RCV000851369 RCV000807730 RCV002234739 RCV002537459 RCV002235337 RCV002235125 RCV000995766 RCV003769410 RCV001059893 RCV001061715 RCV001071657 RCV001058596 RCV001065114 RCV001043643 RCV001332002 RCV001207731 RCV001211252 RCV001210380 RCV001238854 RCV001232709 RCV001232992 RCV001241863 RCV001253547 RCV001380531 RCV000170414 RCV003764758	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	Pathogenic	rs80338840, rs1557178535, rs398122521	RCV000012537 RCV000577901 RCV000577880	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Likely pathogenic	rs2148105341	RCV002245474	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic	rs1557179325	RCV005898543	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melnick-Needles syndrome	Likely pathogenic; Pathogenic	rs2148118126, rs2148119316, rs2148103917, rs2148104615, rs1557176615, rs2148111417, rs1557178045, rs2148113628, rs2148118942, rs2148118964, rs2148119354, rs2148121859, rs2148104651, rs2148101228, rs2148103458, rs2148118072, rs2148102980, rs2148116288, rs2148119182, rs2148113604, rs2148111202, rs2148104376, rs1447594194, rs2148103004, rs2148115776, rs2148114051, rs1557175424, rs2148107380, rs782121971, rs786205178, rs2522763814, rs797045044, rs2522771473, rs2522735557, rs863223636, rs863223630, rs2522749173, rs2522715055, rs2522771792, rs2522714066, rs2522719819, rs2522771411, rs782308324, rs28935169, rs28935469, rs28935470, rs28935472, rs28935473, rs137853312, rs387907371, rs267606816, rs2522765595, rs2522726645, rs2522713003, rs2522728586, rs1557175101, rs111243479, rs2522771731, rs2522761716, rs2522757689, rs782152127, rs2522762487, rs2522721718, rs2522740258, rs2522753973, rs2522740256, rs2522724685, rs2522721432, rs1060500716, rs1060500717, rs112363874, rs1060500718, rs1557177663, rs1557175195, rs1557177485, rs1557177086, rs1557179357, rs1557177279, rs1557179325, rs1557177636, rs1557177738, rs1557176315, rs1557177623, rs1569551861, rs1569551502, rs786205186, rs1603358246, rs1603359464, rs1603361195, rs1603361851, rs1603360906, rs1603362871, rs2067597172, rs1359141531, rs2067760741, rs2067763458, rs2067713488, rs2067762985, rs2067602034, rs2067693064, rs2067741257, rs2067626336, rs781789823, rs2067723474, rs2067761804, rs398123614, rs186214592	RCV001378079 RCV001379671 RCV001383480 RCV001385560 RCV001386195 RCV001389364 RCV001389179 RCV001382474 RCV001384167 RCV001382283 RCV001384742 RCV001381558 RCV001892782 RCV001917832 RCV001950812 RCV001982372 RCV002010697 RCV001972631 RCV002021923 RCV002007545 RCV001951125 RCV001995963 RCV001950162 RCV001953626 RCV001918386 RCV001984611 RCV002045185 RCV002226855 RCV002571581 RCV003765061 RCV002745608 RCV000794294 RCV002898889 RCV002889880 RCV003765249 RCV002517180 RCV002962362 RCV003034077 RCV003027422 RCV003047382 RCV003057220 RCV003040916 RCV001224993 RCV003764561 RCV003764562 RCV001851804 RCV000012524 RCV000012525 RCV002228026 RCV001205323 RCV005222681 RCV003783797 RCV003783008 RCV003807755 RCV003804462 RCV003805584 RCV003803469 RCV003804259 RCV003800209 RCV003808435 RCV003801983 RCV003802297 RCV003817853 RCV003815728 RCV003809539 RCV003815440 RCV003815636 RCV003812897 RCV002230317 RCV001387919 RCV001379313 RCV002230318 RCV003766799 RCV000536029 RCV002231779 RCV002232264 RCV002232270 RCV002232261 RCV002529037 RCV002232798 RCV000640729 RCV002233040 RCV002233306 RCV002232970 RCV002234087 RCV002233328 RCV000807730 RCV002234739 RCV002537459 RCV002235337 RCV002235125 RCV003769410 RCV001059893 RCV001061715 RCV001071657 RCV001058596 RCV001065114 RCV001043643 RCV001207731 RCV001211252 RCV001210380 RCV001238854 RCV001232709 RCV001232992 RCV001241863 RCV001380531 RCV003764758	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Pathogenic	rs2148102210	RCV001780014	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oto-palato-digital syndrome, type I	Pathogenic; Likely pathogenic	rs2067650699, rs28935469, rs28935473, rs137853314	RCV001333940 RCV000012521 RCV005411293 RCV000012532	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oto-palato-digital syndrome, type II	Likely pathogenic; Pathogenic	rs2148102202, rs2148118126, rs2148119316, rs2148103917, rs2148104615, rs1557176615, rs2148111417, rs1557178045, rs2148113628, rs2148118942, rs2148118964, rs2148119354, rs2148121859, rs2148104651, rs2148101228, rs2148103458, rs2148118072, rs2148102980, rs2148116288, rs2148119182, rs2148113604, rs2148111202, rs2148104376, rs1447594194, rs2148103004, rs2148115776, rs2148114051, rs1557175424, rs2148119164, rs782121971, rs786205178, rs2522763814, rs797045044, rs2522771473, rs2522735557, rs863223636, rs863223630, rs2522749173, rs2522715055, rs2522771792, rs2522714066, rs2522719819, rs2522771411, rs782308324, rs28935169, rs28935469, rs28935470, rs28935473, rs137853312, rs137853318, rs387907371, rs267606816, rs2522765595, rs2522726645, rs2522713003, rs2522728586, rs1557175101, rs111243479, rs2522771731, rs2522761716, rs2522757689, rs782152127, rs2522762487, rs2522721718, rs2522740258, rs2522753973, rs2522740256, rs2522724685, rs2522721432, rs1060500716, rs1060500717, rs112363874, rs1060500718, rs1557177663, rs1557175195, rs1557177485, rs1557177086, rs1557179357, rs1557177279, rs1557179325, rs1557177636, rs1557177738, rs1557176315, rs1557177623, rs1569551861, rs1569551502, rs786205186, rs1603358246, rs1603359464, rs1603361195, rs1603361851, rs1603360906, rs1603362871, rs2067597172, rs1359141531, rs2067760741, rs2067763458, rs2067713488, rs2067762985, rs2067602034, rs2067693064, rs2067741257, rs2067626336, rs781789823, rs2067723474, rs2067761804, rs398123614, rs186214592	RCV001375993 RCV001378079 RCV001379671 RCV001383480 RCV001385560 RCV001386195 RCV001389364 RCV001389179 RCV001382474 RCV001384167 RCV001382283 RCV001384742 RCV001381558 RCV001892782 RCV001917832 RCV001950812 RCV001982372 RCV002010697 RCV001972631 RCV002021923 RCV002007545 RCV001951125 RCV001995963 RCV001950162 RCV001953626 RCV001918386 RCV001984611 RCV002045185 RCV002238711 RCV002571581 RCV003765061 RCV002745608 RCV000794294 RCV002898889 RCV002889880 RCV003765249 RCV002517180 RCV002962362 RCV003034077 RCV003027422 RCV003047382 RCV003057220 RCV003040916 RCV001224993 RCV003764561 RCV003764562 RCV000012522 RCV001382364 RCV002051782 RCV000012540 RCV001205323 RCV005222681 RCV003783797 RCV003783008 RCV003807755 RCV003804462 RCV003805584 RCV003803469 RCV003804259 RCV003800209 RCV003808435 RCV003801983 RCV003802297 RCV003817853 RCV003815728 RCV003809539 RCV003815440 RCV003815636 RCV003812897 RCV002230317 RCV001387919 RCV001379313 RCV002230318 RCV003766799 RCV000536029 RCV002231779 RCV002232264 RCV002232270 RCV002232261 RCV002529037 RCV002232798 RCV000640729 RCV002233040 RCV002233306 RCV002232970 RCV002234087 RCV002233328 RCV000807730 RCV002234739 RCV002537459 RCV002235337 RCV002235125 RCV003769410 RCV001059893 RCV001061715 RCV001071657 RCV001058596 RCV001065114 RCV001043643 RCV001207731 RCV001211252 RCV001210380 RCV001238854 RCV001232709 RCV001232992 RCV001241863 RCV001380531 RCV003764758	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Otopalatodigital syndrome spectrum disorder	Pathogenic	rs863223298, rs137853316	RCV000012528 RCV000012534	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Patent ductus arteriosus	Pathogenic; Likely pathogenic	rs2148100379, rs398123614	RCV001829382 RCV002226662	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Patent foramen ovale	Pathogenic	rs2148100379	RCV001829382	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Periventricular nodular heterotopia	Likely pathogenic; Pathogenic	rs2148121838, rs886041710, rs1557177663, rs1557179349	RCV001391265 RCV006249624 RCV004767308 RCV004782419	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prune belly syndrome	Likely pathogenic	rs1603359205, rs1603359091	RCV000984547 RCV000985242	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature	Likely pathogenic; Pathogenic	rs28935469	RCV000415125	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Terminal osseous dysplasia-pigmentary defects syndrome	Pathogenic	rs387907371	RCV000012542	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs786205204, rs863223295, rs28935469, rs137853315, rs387907371, rs782805682, rs2522765595, rs1057524378	RCV005889657 RCV005887455 RCV005887457 RCV005887458 RCV005887460 RCV005932765 RCV005934890 RCV005898129	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vascular dilatation	Likely pathogenic	rs1557175789	RCV000626750	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventral hernia	Likely pathogenic; Pathogenic	rs398123614	RCV002226662	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal bleeding	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abnormality of neuronal migration	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ambiguous genitalia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Aortic aneurysm, familial thoracic 2	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Aortic dilatation	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCTIVE HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital omphalocele	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL SHORT BOWEL SYNDROME	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental delay	Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Disorder of sexual differentiation	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSGENESIS OF CORPUS CALLOSUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EHLERS-DANLOS SYNDROME CLASSIC TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME TYPE 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, classic type	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Flexion contracture	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FLNA-related otopalatodigital spectrum disorders	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FLNA-related periventricular nodular heterotopia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Heart, malformation of	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRONEPHROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotonia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE WITH AURA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy, centronuclear, 2	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial cleft	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOCHONDRODYSPLASIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTO-PALATO-DIGITAL SYNDROME TYPE 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTO-PALATO-DIGITAL SYNDROME, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOPALATODIGITAL SPECTRUM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otopalatodigital Spectrum Disorders	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOPALATODIGITAL SYNDROME TYPE 1	—	Orphanet Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOPALATODIGITAL SYNDROME TYPE 2	—	ClinVar, Orphanet ClinVar, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOPALATODIGITAL SYNDROME, TYPE I	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOPALATODIGITAL SYNDROME, TYPE II	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIVENTRICULAR HETEROTOPIA, X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIVENTRICULAR NODULAR HETEROTOPIA 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden unexplained death in childhood	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERMINAL OSSEOUS DYSPLASIA	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thoracic aortic aneurysm or dissection	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
URANOSTAPHYLOSCHISIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED EHLERS-DANLOS SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED KELOID SCARRING, REDUCED JOINT MOBILITY, INCREASED OPTIC CUP-TO-DISC RATIO SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED KELOID SCARRING-REDUCED JOINT MOBILITY-INCREASED OPTIC CUP-TO-DISC RATIO SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory carpal bones	Accessory carpal bones	HPO_DG			★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	Pubtator	32814550	Associate	★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acro-Osteolysis	Acrosteolysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	30718563		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	30718563	Associate	★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	28253492		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	28253492		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	28778796		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	25717257		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29272322		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	38068896	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	9332092		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	36372407	Associate	★☆☆☆☆ Found in Text Mining only
Anterior segment mesenchymal dysgenesis	Anterior segment dysgenesis	BEFREE	6978612		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	26488555		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	26488555		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic aneurysm	Pubtator	36372407	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	29334594	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	6429031		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Thoracic	Aortic Aneurysm	BEFREE	29334594		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	BEFREE	31152219		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	18194137, 29962379, 30968058, 31014088		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	18194137, 29962379, 30968058, 31014088		★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	11914408		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	28421814		★☆☆☆☆ Found in Text Mining only
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	26133172	Associate	★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	19720936	Associate	★☆☆☆☆ Found in Text Mining only
Bilateral Periventricular Nodular Heterotopia	Periventricular heterotopia	BEFREE	11749114, 11914408, 12185771, 12410386, 15338277, 16684786, 18427995, 18660478, 19917821, 20844545, 22366253, 26340046		★☆☆☆☆ Found in Text Mining only
Bilateral Periventricular Nodular Heterotopia	Periventricular heterotopia	CTD_human_DG	11914408, 9883725		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17606711		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	27091362, 36944974	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	26133172	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	7158644		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	19232640		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19808958, 20937704, 25454514, 2582715, 29272322, 30074213, 30405761		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	26437033		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19808958, 22595522, 29272322, 33267867	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchitis	Bronchitis	BEFREE	11171928		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	25053830		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	24218340		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19213840, 25944616	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34290294	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35688384, 37960718	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17606711, 29288417		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18082227, 29272322		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24870795, 38292868	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27485544, 32991423	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31681605		★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	20730588		★☆☆☆☆ Found in Text Mining only
Cardiac valvular dysplasia, X-linked	Cardiac Valvular Dysplasia , X-Linked	GENOMICS_ENGLAND_DG	17172441, 17190868		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiac valvular dysplasia, X-linked	Cardiac Valvular Dysplasia , X-Linked	BEFREE	17190868		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiac valvular dysplasia, X-linked	Cardiac Valvular Dysplasia , X-Linked	UNIPROT_DG	17190868		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiac valvular dysplasia, X-linked	Cardiac Valvular Dysplasia , X-Linked	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiomyopathies	Cardiomyopathy	Pubtator	34254723	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	19720936, 35660364, 38310240	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	34254723	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	34254723	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	20730588, 27091362	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	16804067, 28734077, 29699611, 29963909, 30087110, 30284026, 31020733, 31030979, 31077636		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	26059841, 34774109	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Catatonia, Malignant	Malignant Catatonia	BEFREE	28422845		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30856206		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29963909, 30284026		★☆☆☆☆ Found in Text Mining only
Clinodactyly of toe	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	25717257	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25242330, 25717257, 28778796, 31002357, 31485594		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25717257, 36319976, 36849408	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39764579	Inhibit	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of face	Facial dysmorphism	BEFREE	16299064, 17632775		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	23636902		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital idiopathic intestinal pseudoobstruction	Intestinal Pseudoobstruction, Neuronal, X-Linked	GENOMICS_ENGLAND_DG	14988809, 18854860		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital idiopathic intestinal pseudoobstruction	Intestinal Pseudoobstruction, Neuronal, X-Linked	BEFREE	17357080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital idiopathic intestinal pseudoobstruction	Congenital idiopathic intestinal pseudoobstruction	Pubtator	17357080	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital idiopathic intestinal pseudoobstruction	Intestinal Pseudoobstruction, Neuronal, X-Linked	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	26404489		★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	BEFREE	15378534, 7158644		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital omphalocele	Congenital omphalocele	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30425165		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	30089473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Constipation	Constipation	Pubtator	16299064	Associate	★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	26804200	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24870795		★☆☆☆☆ Found in Text Mining only
Cor pulmonale	Cor pulmonale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	17617024, 18194137, 28735679, 30284026		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17617024, 18194137, 28735679, 30284026		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17617024, 18194137, 26184588, 28735679, 29480151, 30284026		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	25873011	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	25873011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	BEFREE	28432720		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	2984105		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	35954202	Associate	★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	BEFREE	21412975		★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	7386610		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29634636, 30418524, 3233232		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29581355		★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	1612203, 31590971, 49283		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	1612203, 29962379, 31590971, 49283		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36837510	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28446194		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	2958722		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	22447617		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyschondroplasias	Dyschondroplasias	CTD_human_DG	12612583		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	22740120		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	26488555, 30284026		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	38068896	Associate	★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	15668422, 15994863, 27632686, 27739212		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	LHGDN	15994863		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ehlers-Danlos syndrome type 5	Ehlers-Danlos Syndrome	ORPHANET_DG	27739212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Emphysema	Emphysema	Pubtator	27091362	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	24413261	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29615978		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	11914408, 16684786, 26340046, 30547349		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	11914408		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	29062687, 34254723	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	11914408		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	14988809, 28425981		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	30817087		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	16299064	Associate	★☆☆☆☆ Found in Text Mining only
Familial mitral valve prolapse	Mitral Valve Prolapse	BEFREE	17413272, 24243761		★☆☆☆☆ Found in Text Mining only
Familial primary pulmonary hypertension	Pulmonary Hypertension	BEFREE	28660794		★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	17172441, 19720936, 23032111, 23977256, 26188975, 26923587, 27023351		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	31759091	Associate	★☆☆☆☆ Found in Text Mining only
FG syndrome	FG Syndrome	BEFREE	11078572, 12239712, 12522552, 17632775		★☆☆☆☆ Found in Text Mining only
FG syndrome	FG Syndrome	CTD_human_DG	17632775		★☆☆☆☆ Found in Text Mining only
FG SYNDROME 2	FG Syndrome	GENOMICS_ENGLAND_DG	14988809		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FG SYNDROME 2	FG Syndrome	UNIPROT_DG	17632775		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FG SYNDROME 2	FG Syndrome	CTD_human_DG	17632775		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FG SYNDROME 4 (disorder)	FG syndrome	CTD_human_DG	17632775		★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	31647027		★☆☆☆☆ Found in Text Mining only
fibroma	Fibroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibromuscular Dysplasia	Fibromuscular Dysplasia	BEFREE	15940695, 16596676, 24352458, 25899317, 26404489, 27426733, 27872233, 28498505, 28552973, 29889158, 29995760		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	22595522		★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - wrist	Flexion Contracture Of Wrist	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontometaphyseal dysplasia	Frontometaphyseal Dysplasia	BEFREE	12612583, 14988809, 15940695, 16596676, 16835913, 17431908, 20888935, 26404489, 28348077, 28498505, 29467388, 29995760		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontometaphyseal dysplasia	Frontometaphyseal Dysplasia	CTD_human_DG	12612583, 16596676		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontometaphyseal dysplasia	Frontometaphyseal Dysplasia	ORPHANET_DG	16596676, 16835913		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontometaphyseal dysplasia	Frontometaphyseal Dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontometaphyseal dysplasia	Frontometaphyseal dysplasia	Pubtator	21821884, 25873011, 29467388, 29995760	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontometaphyseal dysplasia	Frontometaphyseal Dysplasia	GENOMICS_ENGLAND_DG	25873011, 28425981		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FRONTOMETAPHYSEAL DYSPLASIA 1	Frontometaphyseal Dysplasia	GENOMICS_ENGLAND_DG	12612583, 14988809		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FRONTOMETAPHYSEAL DYSPLASIA 1	Frontometaphyseal Dysplasia	UNIPROT_DG	12612583, 16596676, 27193221		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FRONTOMETAPHYSEAL DYSPLASIA 1	Frontometaphyseal Dysplasia	BEFREE	15940695, 16596676, 24352458, 25899317, 26404489, 27426733, 28498505, 28552973, 29995760		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma of childhood	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glossoptosis	Glossoptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	3254259		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33836056	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	20730588, 24200678, 29146485	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30425165		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37092838	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	LHGDN	17190868		★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	21815255		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	19392786		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	21960593	Associate	★☆☆☆☆ Found in Text Mining only
Heterotopia Periventricular Autosomal Recessive	Periventricular nodular heterotopia	Pubtator	23032111, 24906659, 31489630	Associate	★☆☆☆☆ Found in Text Mining only
Heterotopia, Periventricular, Ehlers-Danlos Variant	Heterotopia	CTD_human_DG	15668422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin Disease	BEFREE	24811568		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	24811568		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	15165674		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	17617024		★☆☆☆☆ Found in Text Mining only
Hyperemia	Hyperemia	BEFREE	17453750, 23822941, 27658659, 30204458, 30856206		★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	17009344		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29889158, 30022320, 30418524, 9678591		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	15338277		★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	11171928		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28660794, 29480151		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29581355		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16596669		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intestinal Diseases	Intestinal disease	Pubtator	22595522	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Pseudo-Obstruction	Intestinal Pseudoobstruction	BEFREE	17357080, 20871226, 23037936		★☆☆☆☆ Found in Text Mining only
Intestinal Pseudo-Obstruction	Intestinal Pseudoobstruction	LHGDN	17357080		★☆☆☆☆ Found in Text Mining only
Intestinal Pseudo-Obstruction	Intestinal Pseudoobstruction	ORPHANET_DG	23037936		★☆☆☆☆ Found in Text Mining only
Intestinal Pseudo-Obstruction	Intestinal Pseudoobstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	3498681		★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	BEFREE	25182519		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	9492439		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	26804200		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	31384171		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	21727660		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24850755	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	19376791	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25892123, 28253492		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21471709, 28727243		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	20888935, 21194575, 25053830, 28457522, 28898549, 30557962, 30922288		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	27091362, 28457522, 30557962, 33176330, 33734874, 35156755	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	33734874, 34254723	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Obstructive	Lung disease	Pubtator	28457522	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	28898549, 30547349		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	BEFREE	28457522		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20179208, 25944616, 29272322	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	32678854	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24218340, 25717257	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24241900, 24390612, 24870795	Inhibit	★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	20844545, 21960593, 28428218, 29449050, 30602618		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Macrothrombocytopenia	GENOMICS_ENGLAND_DG	21960593		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	20730588, 32570172	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	22595522, 28953922	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	11100490, 12612583, 20844545, 29024177, 30217809		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Cystosarcoma Phyllodes	Cystosarcoma Phyllodes	CTD_human_DG	26437033		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19808958, 20937704, 22595522, 25454514, 2582715, 29272322, 30074213, 30405761		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	26437033		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29615978		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18082227, 29272322		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	24218340		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31681605		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19690385		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23801747, 24390612, 25759396, 30623593, 31268639		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24241900		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17606711		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18598695, 19808958, 20937704, 22051193, 22419889, 25717257, 26434855, 26921393, 28778796, 29052140		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	26437033		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	26437033		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	26437033		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	19720936	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meckel syndrome type 1	Meckel Syndrome	BEFREE	22121117		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	28231263	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	14660646, 19177143, 19213840, 19808958, 20179208, 20585650, 24200678, 26552704, 27738102, 29284605	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	BEFREE	19213840, 22259062, 22419889		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melnick-Needles Syndrome	Melnick-Needles Syndrome	BEFREE	12612583, 16596676, 20186808, 20305604, 26404489, 27193221, 29575627, 30027705		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melnick-Needles Syndrome	Melnick-Needles Syndrome	GENOMICS_ENGLAND_DG	12612583, 14988809, 25873011, 28425981		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melnick-Needles Syndrome	Melnick-Needles Syndrome	CTD_human_DG	12612583		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melnick-Needles Syndrome	Melnick-Needles Syndrome	UNIPROT_DG	12612583, 27193221		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melnick-Needles Syndrome	Melnick-Needles Syndrome	ORPHANET_DG	20186808, 21031081		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melnick-Needles syndrome	Melnick-Needles Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meningomyelocele	Meningomyelocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29634636, 3233232		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29061436		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16596669		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31590971		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	27144937, 29699611, 30935704		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	19073947, 23755938, 29240780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	BEFREE	25873011		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	BEFREE	17009344		★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	29427165		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	11914408		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral valve dysplasia	Mitral Valve Dysplasia	BEFREE	30344108, 31542223		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	BEFREE	24243761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya disease 1	Moyamoya disease	Pubtator	37446373	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	CTD_human_DG	12612583		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29883851		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	7689010		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	15940695, 16596676, 24352458, 25899317, 26404489, 27426733, 28498505, 28552973, 29995760		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30425163, 30425165		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	7689010		★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	24218340		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	24218340	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	24218340	Inhibit	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22051193, 22259062, 22419889, 24870795, 25759396, 26434855, 26774150, 28727243, 29288417, 29615978, 30229394, 30405761, 30718563, 30799513, 31002357, 31268639, 31681605		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	26804200		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	19773341		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	20179208	Associate	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	26733502, 29100390		★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	BEFREE	22740120		★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuronal intestinal pseudoobstruction	Neuronal Intestinal Pseudoobstruction	ORPHANET_DG	17357080		★☆☆☆☆ Found in Text Mining only
Neuronal intestinal pseudoobstruction	Neuronal Intestinal Pseudoobstruction	Orphanet			★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: FG syndrome phenotypic spectrum	FG Syndrome Phenotypic Spectrum	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26774150		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	11171928		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29699611		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36837510	Associate	★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	16299064	Associate	★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	40147726	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	CTD_human_DG	12612583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	21484998, 27193221, 29575627, 7158644		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	21821884, 32814550	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	25815782, 28420501	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	28420501		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oto-Palato-digital syndrome type 1	Oto-Palato-digital syndrome	UNIPROT_DG	12612583, 15940695, 27193221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oto-Palato-digital syndrome type 1	Oto-Palato-digital syndrome	GENOMICS_ENGLAND_DG	12612583, 14988809, 28425981		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oto-Palato-digital syndrome type 1	Oto-Palato-digital syndrome	CTD_human_DG	12612583, 15940695, 16596676		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oto-Palato-digital syndrome type 1	Oto-Palato-digital syndrome	BEFREE	15940695, 16538226		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otopalatodigital Spectrum Disorder	Otopalatodigital spectrum disorder	Pubtator	25873011, 27091362	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otopalatodigital syndrome type 1	Oto-Palato-Digital Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otopalatodigital syndrome type 2	Oto-Palato-Digital Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOPALATODIGITAL SYNDROME, TYPE II	Oto-Palato-digital syndrome	BEFREE	12612583, 15378534, 16538226, 17009344, 17431908, 19773341, 20888935, 21412975, 21484998, 21960593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOPALATODIGITAL SYNDROME, TYPE II	Oto-Palato-digital syndrome	GENOMICS_ENGLAND_DG	12612583, 14988809, 28425981		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOPALATODIGITAL SYNDROME, TYPE II	Oto-Palato-digital syndrome	CTD_human_DG	12612583, 15378534		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOPALATODIGITAL SYNDROME, TYPE II	Oto-Palato-digital syndrome	UNIPROT_DG	12612583, 17431908, 27193221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	31681605		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22249249	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19690385		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20550479	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	22015969	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	27872158		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	27872158, 29272322		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	27872158, 29272322	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32348865	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	11100490, 15249610, 15459826, 15994863, 16311271, 16684786, 16691586, 22238415, 25755106, 30391507, 30683929, 31489630		★☆☆☆☆ Found in Text Mining only
Partial Trisomy	Trisomy	BEFREE	18384621		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Periapical Periodontitis	Periapical Periodontitis	BEFREE	31030979		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	29565948		★☆☆☆☆ Found in Text Mining only
Periventricular Heterotopia, X-Linked	Periventricular Heterotopia, X-Linked	UNIPROT_DG	11532987, 11914408, 15249610, 15668422, 15994863, 16299064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular Heterotopia, X-Linked	Periventricular Heterotopia, X-Linked	CTD_human_DG	11914408, 9883725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular Heterotopia, X-Linked	Periventricular Heterotopia, X-Linked	GENOMICS_ENGLAND_DG	14988809, 17357080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular Heterotopia, X-Linked	Periventricular Heterotopia, X-Linked	BEFREE	23032111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	11100490, 11532987, 12612583, 12682315, 14738943, 14988809, 15165674, 15249610, 15459826, 15668422, 15994863, 15996530, 16299064, 16320251, 16417552, 16684786, 18201775, 18384621, 18996916, 19073947, 20888935, 21194575, 21484998, 21960593, 22076441, 22121117, 22238415, 22366253, 22740120, 24056535, 24906659, 25686753, 25755106, 25873011, 26340046, 26471271, 27632686, 28428218, 28457522, 28515470, 29449050, 30547349, 30922288, 9883725		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	CTD_human_DG	11914408, 9883725		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	15994863, 16299064, 16417552, 17357080, 18384621, 20730588, 21960593, 22238415, 22914838, 23032111, 24906659, 25873011, 26059841, 26471271, 27091362, 27632686, 28457522, 29062687, 30557962, 33836056, 35156755, 35613087, 35660364, 36372407	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Periventricular nodular heterotopia	Periventricular Nodular Heterotopia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Phyllodes Tumor	Phyllodes Tumor	CTD_human_DG	26437033		★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	30204458		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	16311271		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	22259062, 30799513		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23801747, 24390612, 25759396, 30623593, 31268639		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17420725		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20179208, 27206800, 30623593, 31268639, 33500395, 35011576, 37108678, 38179769	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24390612	Inhibit	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	27091362	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	21194575		★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	BEFREE	27872233		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24870795		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	29963909		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	28457522, 31468740		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	29963909		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28650341		★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	CTD_human_DG	12612583		★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome, Type 1	Chondrodystrophic myotonia	CTD_human_DG	12612583		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	40264431	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	17357080, 24906659, 26471271	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	33266100	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30856206		★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	31234783		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	21484998, 29575627, 7158644		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	20730588	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	26059211		★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	16417552	Associate	★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	CTD_human_DG	12612583		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloenchondrodysplasia	CTD_human_DG	12612583		★☆☆☆☆ Found in Text Mining only
Spondylolysis	Spondylolysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28559546, 35655921, 37373553	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24241900		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24241900	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31886120	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	BEFREE	31152219		★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Terminal Osseous Dysplasia and Pigmentary Defects	Terminal Osseous Dysplasia And Pigmentary Defects	GENOMICS_ENGLAND_DG	12612583, 14988809, 28425981		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Terminal Osseous Dysplasia and Pigmentary Defects	Terminal Osseous Dysplasia And Pigmentary Defects	BEFREE	20598277		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Terminal Osseous Dysplasia and Pigmentary Defects	Terminal Osseous Dysplasia And Pigmentary Defects	ORPHANET_DG	20598277		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Terminal Osseous Dysplasia and Pigmentary Defects	Terminal Osseous Dysplasia And Pigmentary Defects	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Terminal osseous dysplasia-pigmentary defects syndrome	Terminal Osseous Dysplasia And Pigmentary Defects	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Thrombocytopenia	Pubtator	21960593, 26059841	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
THROMBOCYTOPENIA 1 (disorder)	Thrombocytopenia	BEFREE	20844545		★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Prolapse	Tricuspid Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26546439		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	25277454		★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	18854860	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	20139371, 20179208	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29272322, 33125133	Associate	★☆☆☆☆ Found in Text Mining only
Van Buchem disease	Van Buchem Disease	CTD_human_DG	12612583		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	24680225		★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	33836056	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	27899394		★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	16417552		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	28457011		★☆☆☆☆ Found in Text Mining only
X-linked Ehlers-Danlos syndrome	Ehlers-Danlos Syndrome, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Lissencephaly	Lissencephaly, X-Linked	BEFREE	10826984		★☆☆☆☆ Found in Text Mining only