PFN1 (profilin 1)

Gene

• Entrez ID: 5216
• Gene name: Profilin 1
• Gene symbol: PFN1
• Synonyms (NCBI Gene): ALS18
• Chromosome: 17
• Chromosome location: 17p13.2
• Summary: This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated w

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140547520	T>C	Pathogenic	3 prime UTR variant, missense variant, coding sequence variant
rs387907264	A>C	Pathogenic	Coding sequence variant, missense variant
rs387907265	A>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs387907266	C>A	Pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007199	hsa-miR-182-5p	Luciferase reporter assay	23430586
MIRT051906	hsa-let-7b-5p	CLASH	23622248
MIRT049148	hsa-miR-92a-3p	CLASH	23622248
MIRT047929	hsa-miR-30c-5p	CLASH	23622248
MIRT046707	hsa-miR-222-3p	CLASH	23622248
MIRT041589	hsa-miR-193b-3p	CLASH	23622248
MIRT040578	hsa-miR-92b-3p	CLASH	23622248
MIRT039051	hsa-miR-766-3p	CLASH	23622248
MIRT038531	hsa-miR-99b-3p	CLASH	23622248
MIRT036585	hsa-miR-941	CLASH	23622248
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	21572407
MIRT501681	hsa-miR-96-5p	PAR-CLIP	21572407
MIRT007199	hsa-miR-182-5p	PAR-CLIP	21572407
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	21572407
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT506226	hsa-miR-6779-3p	PAR-CLIP	21572407
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	21572407
MIRT501673	hsa-miR-5685	PAR-CLIP	21572407
MIRT501672	hsa-miR-361-3p	PAR-CLIP	21572407
MIRT501671	hsa-miR-4641	PAR-CLIP	21572407
MIRT501670	hsa-miR-885-3p	PAR-CLIP	21572407
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	21572407
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	21572407
MIRT501667	hsa-miR-874-5p	PAR-CLIP	21572407
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	21572407
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	21572407
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	21572407
MIRT501663	hsa-miR-7150	PAR-CLIP	21572407
MIRT535360	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT535359	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT535358	hsa-miR-3662	PAR-CLIP	22012620
MIRT535357	hsa-miR-224-3p	PAR-CLIP	22012620
MIRT535356	hsa-miR-522-3p	PAR-CLIP	22012620
MIRT501680	hsa-miR-3936	PAR-CLIP	22012620
MIRT535355	hsa-miR-6782-5p	PAR-CLIP	22012620
MIRT535354	hsa-miR-3163	PAR-CLIP	22012620
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	22012620
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	22012620
MIRT535353	hsa-miR-5681a	PAR-CLIP	22012620
MIRT535352	hsa-miR-766-5p	PAR-CLIP	22012620
MIRT535351	hsa-miR-7106-5p	PAR-CLIP	22012620
MIRT535350	hsa-miR-3175	PAR-CLIP	22012620
MIRT535349	hsa-miR-1343-5p	PAR-CLIP	22012620
MIRT535348	hsa-miR-939-5p	PAR-CLIP	22012620
MIRT535347	hsa-miR-6825-5p	PAR-CLIP	22012620
MIRT535346	hsa-miR-342-5p	PAR-CLIP	22012620
MIRT535345	hsa-miR-4664-5p	PAR-CLIP	22012620
MIRT535343	hsa-miR-5087	PAR-CLIP	22012620
MIRT535344	hsa-miR-223-5p	PAR-CLIP	22012620
MIRT535342	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT535341	hsa-miR-518a-5p	PAR-CLIP	22012620
MIRT535340	hsa-miR-527	PAR-CLIP	22012620
MIRT535339	hsa-miR-3150a-3p	PAR-CLIP	22012620
MIRT535338	hsa-miR-6763-5p	PAR-CLIP	22012620
MIRT535337	hsa-miR-6818-5p	PAR-CLIP	22012620
MIRT535336	hsa-miR-147a	PAR-CLIP	22012620
MIRT535335	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	22012620
MIRT501681	hsa-miR-96-5p	PAR-CLIP	22012620
MIRT007199	hsa-miR-182-5p	PAR-CLIP	22012620
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	22012620
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	22012620
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	22012620
MIRT501673	hsa-miR-5685	PAR-CLIP	22012620
MIRT501672	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT501671	hsa-miR-4641	PAR-CLIP	22012620
MIRT501670	hsa-miR-885-3p	PAR-CLIP	22012620
MIRT501667	hsa-miR-874-5p	PAR-CLIP	22012620
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	22012620
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	22012620
MIRT501663	hsa-miR-7150	PAR-CLIP	22012620
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	23446348
MIRT501681	hsa-miR-96-5p	PAR-CLIP	23446348
MIRT007199	hsa-miR-182-5p	PAR-CLIP	23446348
MIRT501680	hsa-miR-3936	PAR-CLIP	23446348
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	23446348
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT506226	hsa-miR-6779-3p	PAR-CLIP	23446348
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	23446348
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	23446348
MIRT501673	hsa-miR-5685	PAR-CLIP	23446348
MIRT501672	hsa-miR-361-3p	PAR-CLIP	23446348
MIRT501671	hsa-miR-4641	PAR-CLIP	23446348
MIRT501670	hsa-miR-885-3p	PAR-CLIP	23446348
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	23446348
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	23446348
MIRT501667	hsa-miR-874-5p	PAR-CLIP	23446348
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	23446348
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	23446348
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	23446348
MIRT501663	hsa-miR-7150	PAR-CLIP	23446348
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	24398324
MIRT501681	hsa-miR-96-5p	PAR-CLIP	24398324
MIRT007199	hsa-miR-182-5p	PAR-CLIP	24398324
MIRT501680	hsa-miR-3936	PAR-CLIP	24398324
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	24398324
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	24398324
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	24398324
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	24398324
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	24398324
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	24398324
MIRT501673	hsa-miR-5685	PAR-CLIP	24398324
MIRT501672	hsa-miR-361-3p	PAR-CLIP	24398324
MIRT501671	hsa-miR-4641	PAR-CLIP	24398324
MIRT501670	hsa-miR-885-3p	PAR-CLIP	24398324
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	24398324
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	24398324
MIRT501667	hsa-miR-874-5p	PAR-CLIP	24398324
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	24398324
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	24398324
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	24398324
MIRT501663	hsa-miR-7150	PAR-CLIP	24398324
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	26701625
MIRT535349	hsa-miR-1343-5p	PAR-CLIP	26701625
MIRT007199	hsa-miR-182-5p	PAR-CLIP	26701625
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	26701625
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	26701625
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	26701625
MIRT535339	hsa-miR-3150a-3p	PAR-CLIP	26701625
MIRT535350	hsa-miR-3175	PAR-CLIP	26701625
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	26701625
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	26701625
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	26701625
MIRT501680	hsa-miR-3936	PAR-CLIP	26701625
MIRT501680	hsa-miR-3936	PAR-CLIP	26701625
MIRT501680	hsa-miR-3936	PAR-CLIP	26701625
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	26701625
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	26701625
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	26701625
MIRT535338	hsa-miR-6763-5p	PAR-CLIP	26701625
MIRT535347	hsa-miR-6825-5p	PAR-CLIP	26701625
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	26701625
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	26701625
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	26701625
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	26701625
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	26701625
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	26701625
MIRT501663	hsa-miR-7150	PAR-CLIP	26701625
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	26701625
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	26701625
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	26701625
MIRT501670	hsa-miR-885-3p	PAR-CLIP	26701625
MIRT501670	hsa-miR-885-3p	PAR-CLIP	26701625
MIRT535348	hsa-miR-939-5p	PAR-CLIP	26701625
MIRT501681	hsa-miR-96-5p	PAR-CLIP	26701625
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	21572407
MIRT501681	hsa-miR-96-5p	PAR-CLIP	21572407
MIRT007199	hsa-miR-182-5p	PAR-CLIP	21572407
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	21572407
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT506226	hsa-miR-6779-3p	PAR-CLIP	21572407
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	21572407
MIRT501673	hsa-miR-5685	PAR-CLIP	21572407
MIRT501672	hsa-miR-361-3p	PAR-CLIP	21572407
MIRT501671	hsa-miR-4641	PAR-CLIP	21572407
MIRT501670	hsa-miR-885-3p	PAR-CLIP	21572407
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	21572407
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	21572407
MIRT501667	hsa-miR-874-5p	PAR-CLIP	21572407
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	21572407
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	21572407
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	21572407
MIRT501663	hsa-miR-7150	PAR-CLIP	21572407
MIRT535360	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT535359	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT535358	hsa-miR-3662	PAR-CLIP	22012620
MIRT535357	hsa-miR-224-3p	PAR-CLIP	22012620
MIRT535356	hsa-miR-522-3p	PAR-CLIP	22012620
MIRT501680	hsa-miR-3936	PAR-CLIP	22012620
MIRT535355	hsa-miR-6782-5p	PAR-CLIP	22012620
MIRT535354	hsa-miR-3163	PAR-CLIP	22012620
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	22012620
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	22012620
MIRT535353	hsa-miR-5681a	PAR-CLIP	22012620
MIRT535352	hsa-miR-766-5p	PAR-CLIP	22012620
MIRT535351	hsa-miR-7106-5p	PAR-CLIP	22012620
MIRT535350	hsa-miR-3175	PAR-CLIP	22012620
MIRT535349	hsa-miR-1343-5p	PAR-CLIP	22012620
MIRT535348	hsa-miR-939-5p	PAR-CLIP	22012620
MIRT535347	hsa-miR-6825-5p	PAR-CLIP	22012620
MIRT535346	hsa-miR-342-5p	PAR-CLIP	22012620
MIRT535345	hsa-miR-4664-5p	PAR-CLIP	22012620
MIRT535343	hsa-miR-5087	PAR-CLIP	22012620
MIRT535344	hsa-miR-223-5p	PAR-CLIP	22012620
MIRT535342	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT535341	hsa-miR-518a-5p	PAR-CLIP	22012620
MIRT535340	hsa-miR-527	PAR-CLIP	22012620
MIRT535339	hsa-miR-3150a-3p	PAR-CLIP	22012620
MIRT535338	hsa-miR-6763-5p	PAR-CLIP	22012620
MIRT535337	hsa-miR-6818-5p	PAR-CLIP	22012620
MIRT535336	hsa-miR-147a	PAR-CLIP	22012620
MIRT535335	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	22012620
MIRT501681	hsa-miR-96-5p	PAR-CLIP	22012620
MIRT007199	hsa-miR-182-5p	PAR-CLIP	22012620
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	22012620
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	22012620
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	22012620
MIRT501673	hsa-miR-5685	PAR-CLIP	22012620
MIRT501672	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT501671	hsa-miR-4641	PAR-CLIP	22012620
MIRT501670	hsa-miR-885-3p	PAR-CLIP	22012620
MIRT501667	hsa-miR-874-5p	PAR-CLIP	22012620
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	22012620
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	22012620
MIRT501663	hsa-miR-7150	PAR-CLIP	22012620
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	23446348
MIRT501681	hsa-miR-96-5p	PAR-CLIP	23446348
MIRT007199	hsa-miR-182-5p	PAR-CLIP	23446348
MIRT501680	hsa-miR-3936	PAR-CLIP	23446348
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	23446348
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT506226	hsa-miR-6779-3p	PAR-CLIP	23446348
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	23446348
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	23446348
MIRT501673	hsa-miR-5685	PAR-CLIP	23446348
MIRT501672	hsa-miR-361-3p	PAR-CLIP	23446348
MIRT501671	hsa-miR-4641	PAR-CLIP	23446348
MIRT501670	hsa-miR-885-3p	PAR-CLIP	23446348
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	23446348
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	23446348
MIRT501667	hsa-miR-874-5p	PAR-CLIP	23446348
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	23446348
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	23446348
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	23446348
MIRT501663	hsa-miR-7150	PAR-CLIP	23446348
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	24398324
MIRT501681	hsa-miR-96-5p	PAR-CLIP	24398324
MIRT007199	hsa-miR-182-5p	PAR-CLIP	24398324
MIRT501680	hsa-miR-3936	PAR-CLIP	24398324
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	24398324
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	24398324
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	24398324
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	24398324
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	24398324
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	24398324
MIRT501673	hsa-miR-5685	PAR-CLIP	24398324
MIRT501672	hsa-miR-361-3p	PAR-CLIP	24398324
MIRT501671	hsa-miR-4641	PAR-CLIP	24398324
MIRT501670	hsa-miR-885-3p	PAR-CLIP	24398324
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	24398324
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	24398324
MIRT501667	hsa-miR-874-5p	PAR-CLIP	24398324
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	24398324
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	24398324
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	24398324
MIRT501663	hsa-miR-7150	PAR-CLIP	24398324
MIRT1226487	hsa-miR-1271	CLIP-seq
MIRT1226488	hsa-miR-1273g	CLIP-seq
MIRT1226489	hsa-miR-147	CLIP-seq
MIRT1226490	hsa-miR-182	CLIP-seq
MIRT1226491	hsa-miR-19a	CLIP-seq
MIRT1226492	hsa-miR-19b	CLIP-seq
MIRT1226493	hsa-miR-3115	CLIP-seq
MIRT1226494	hsa-miR-3132	CLIP-seq
MIRT1226495	hsa-miR-3151	CLIP-seq
MIRT1226496	hsa-miR-3201	CLIP-seq
MIRT1226497	hsa-miR-3202	CLIP-seq
MIRT1226498	hsa-miR-3613-3p	CLIP-seq
MIRT1226499	hsa-miR-3689d	CLIP-seq
MIRT1226500	hsa-miR-4271	CLIP-seq
MIRT1226501	hsa-miR-4278	CLIP-seq
MIRT1226502	hsa-miR-4475	CLIP-seq
MIRT1226503	hsa-miR-4716-3p	CLIP-seq
MIRT1226504	hsa-miR-4723-5p	CLIP-seq
MIRT1226505	hsa-miR-4725-3p	CLIP-seq
MIRT1226506	hsa-miR-4728-5p	CLIP-seq
MIRT1226507	hsa-miR-4747-5p	CLIP-seq
MIRT1226508	hsa-miR-4791	CLIP-seq
MIRT1226509	hsa-miR-522	CLIP-seq
MIRT1226510	hsa-miR-548ac	CLIP-seq
MIRT1226511	hsa-miR-548d-3p	CLIP-seq
MIRT1226512	hsa-miR-548z	CLIP-seq
MIRT1226513	hsa-miR-561	CLIP-seq
MIRT1226514	hsa-miR-599	CLIP-seq
MIRT1226515	hsa-miR-602	CLIP-seq
MIRT1226516	hsa-miR-939	CLIP-seq
MIRT1226517	hsa-miR-96	CLIP-seq
MIRT1226493	hsa-miR-3115	CLIP-seq
MIRT1226494	hsa-miR-3132	CLIP-seq
MIRT1226496	hsa-miR-3201	CLIP-seq
MIRT1226499	hsa-miR-3689d	CLIP-seq
MIRT1226501	hsa-miR-4278	CLIP-seq
MIRT1226503	hsa-miR-4716-3p	CLIP-seq
MIRT1226504	hsa-miR-4723-5p	CLIP-seq
MIRT1226506	hsa-miR-4728-5p	CLIP-seq
MIRT1226508	hsa-miR-4791	CLIP-seq
MIRT1226515	hsa-miR-602	CLIP-seq
MIRT1226493	hsa-miR-3115	CLIP-seq
MIRT1226494	hsa-miR-3132	CLIP-seq
MIRT1226496	hsa-miR-3201	CLIP-seq
MIRT1226506	hsa-miR-4728-5p	CLIP-seq
MIRT1226508	hsa-miR-4791	CLIP-seq
MIRT1226515	hsa-miR-602	CLIP-seq
MIRT1226487	hsa-miR-1271	CLIP-seq
MIRT1226488	hsa-miR-1273g	CLIP-seq
MIRT1226489	hsa-miR-147	CLIP-seq
MIRT1226490	hsa-miR-182	CLIP-seq
MIRT1226491	hsa-miR-19a	CLIP-seq
MIRT1226492	hsa-miR-19b	CLIP-seq
MIRT1226498	hsa-miR-3613-3p	CLIP-seq
MIRT1226509	hsa-miR-522	CLIP-seq
MIRT1226514	hsa-miR-599	CLIP-seq
MIRT1226516	hsa-miR-939	CLIP-seq
MIRT1226517	hsa-miR-96	CLIP-seq
MIRT1226487	hsa-miR-1271	CLIP-seq
MIRT1226488	hsa-miR-1273g	CLIP-seq
MIRT1226489	hsa-miR-147	CLIP-seq
MIRT1226490	hsa-miR-182	CLIP-seq
MIRT1226491	hsa-miR-19a	CLIP-seq
MIRT1226492	hsa-miR-19b	CLIP-seq
MIRT1226493	hsa-miR-3115	CLIP-seq
MIRT1226494	hsa-miR-3132	CLIP-seq
MIRT1226495	hsa-miR-3151	CLIP-seq
MIRT1226496	hsa-miR-3201	CLIP-seq
MIRT1226497	hsa-miR-3202	CLIP-seq
MIRT1226498	hsa-miR-3613-3p	CLIP-seq
MIRT1226499	hsa-miR-3689d	CLIP-seq
MIRT1226500	hsa-miR-4271	CLIP-seq
MIRT1226501	hsa-miR-4278	CLIP-seq
MIRT1226502	hsa-miR-4475	CLIP-seq
MIRT1226503	hsa-miR-4716-3p	CLIP-seq
MIRT1226504	hsa-miR-4723-5p	CLIP-seq
MIRT1226505	hsa-miR-4725-3p	CLIP-seq
MIRT1226506	hsa-miR-4728-5p	CLIP-seq
MIRT1226507	hsa-miR-4747-5p	CLIP-seq
MIRT1226508	hsa-miR-4791	CLIP-seq
MIRT1226509	hsa-miR-522	CLIP-seq
MIRT1226513	hsa-miR-561	CLIP-seq
MIRT1226514	hsa-miR-599	CLIP-seq
MIRT1226515	hsa-miR-602	CLIP-seq
MIRT1226516	hsa-miR-939	CLIP-seq
MIRT1226517	hsa-miR-96	CLIP-seq
MIRT1226487	hsa-miR-1271	CLIP-seq
MIRT1226488	hsa-miR-1273g	CLIP-seq
MIRT1226490	hsa-miR-182	CLIP-seq
MIRT1226491	hsa-miR-19a	CLIP-seq
MIRT1226492	hsa-miR-19b	CLIP-seq
MIRT1226493	hsa-miR-3115	CLIP-seq
MIRT1226494	hsa-miR-3132	CLIP-seq
MIRT1226496	hsa-miR-3201	CLIP-seq
MIRT1226506	hsa-miR-4728-5p	CLIP-seq
MIRT1226508	hsa-miR-4791	CLIP-seq
MIRT1226513	hsa-miR-561	CLIP-seq
MIRT1226515	hsa-miR-602	CLIP-seq
MIRT1226516	hsa-miR-939	CLIP-seq
MIRT1226517	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000774	Function	Adenyl-nucleotide exchange factor activity	IDA	7758455
GO:0001784	Function	Phosphotyrosine residue binding	IPI	24700464
GO:0001843	Process	Neural tube closure	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003779	Function	Actin binding	IBA
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	IPI	7758455, 17914456
GO:0003785	Function	Actin monomer binding	IDA	18573880
GO:0005515	Function	Protein binding	IPI	9822597, 9843499, 16531231, 17470807, 18573880, 18689676, 19000816, 19338310, 23153535, 25255767, 32814053, 35271311
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	7758455
GO:0005634	Component	Nucleus	IDA	24700464
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	24700464
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005938	Component	Cell cortex	IDA	24700464
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0010634	Process	Positive regulation of epithelial cell migration	IMP	23153535
GO:0016020	Component	Membrane	HDA	19946888
GO:0030036	Process	Actin cytoskeleton organization	IDA	7758455
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030833	Process	Regulation of actin filament polymerization	IBA
GO:0030838	Process	Positive regulation of actin filament polymerization	IGI	23153535
GO:0031267	Function	Small GTPase binding	IEA
GO:0032232	Process	Negative regulation of actin filament bundle assembly	IMP	23153535
GO:0032233	Process	Positive regulation of actin filament bundle assembly	IBA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050821	Process	Protein stabilization	IDA	18573880
GO:0051497	Process	Negative regulation of stress fiber assembly	IMP	23153535
GO:0060074	Process	Synapse maturation	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0070064	Function	Proline-rich region binding	IPI	17914456
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0098885	Process	Modification of postsynaptic actin cytoskeleton	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0110053	Process	Regulation of actin filament organization	IEA
GO:1900029	Process	Positive regulation of ruffle assembly	IMP	23153535

Other IDs

• MIM: 176610
• HGNC: 8881
• e!Ensembl: ENSG00000108518

Protein

• UniProt ID: P07737
• Protein name: Profilin-1 (Epididymis tissue protein Li 184a) (Profilin I)
• Protein function: Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhib
• PDB: 1AWI, 1CF0, 1CJF, 1FIK, 1FIL, 1PFL, 2PAV, 2PBD, 3CHW, 4X1L, 4X1M, 4X25, 6NAS, 6NBE, 6NBW, 7P1H, 8BJH, 8BJI, 8BJJ, 8BR0, 8RTY, 9AZP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00235	Profilin	2 → 140	Profilin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in epididymis (at protein level). {ECO:0000269|PubMed:20736409}.
• Sequence:

  MAGWNAYIDNLMADGTCQDAAIVGYKDSPSVWAAVPGKTFVNITPAEVGVLVGKDRSSFY
  VNGLTLGGQKCSVIRDSLLQDGEFSMDLRTKSTGGAPTFNVTVTKTDKTLVLLMGKEGVH
  GGLINKKCYEMASHLRRSQY

• Sequence length: 140

Pathways

KEGG:

Rap1 signaling pathway
Regulation of actin cytoskeleton
Amyotrophic lateral sclerosis
Shigellosis
Salmonella infection

Reactome:

Signaling by ROBO receptors
PCP/CE pathway
RHO GTPases Activate Formins

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
Amyotrophic lateral sclerosis type 18	Likely pathogenic; Pathogenic	rs2151134645, rs387907264, rs387907265, rs387907266	RCV002471256 RCV000030694 RCV000030695 RCV000030696	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lower limb muscle weakness	Likely pathogenic	rs387907265	RCV000415115	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration	Likely pathogenic	rs2151134645	RCV002221386	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PFN1-related disorder	Pathogenic	rs387907265	RCV004755752	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Amyotrophic lateral sclerosis	Uncertain significance	ClinVar CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 18	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	28546428		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	20143334		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30538497		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	25103363		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22801503, 23041957, 23062600, 23063648, 23141414, 23182804, 23312802, 23357624, 23428184, 23634771, 23635659, 24309268, 24920614, 25249294, 25499087, 26056300, 26226631, 26499959, 26572741, 26908597, 27101547, 27432186, 27634045, 27681617, 27838743, 28040732, 28847504, 28980860, 29129529, 29760185, 30166578, 30203378, 30558556, 31216283, 31611772		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	22801503, 23428184, 24085347		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	23063648, 23141414, 23634771, 24309268, 26056300, 26572741, 27432186, 27838743, 28847504, 29760185, 30166578, 30203378, 31216283, 33767237, 35688275, 36747013	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	22801503		★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	23063648, 27432186, 35688275	Associate	★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 18	Amyotrophic Lateral Sclerosis	UNIPROT_DG	22801503		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 18	Amyotrophic Lateral Sclerosis	GENOMICS_ENGLAND_DG	22801503		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 18	Amyotrophic Lateral Sclerosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 18	Amyotrophic Lateral Sclerosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	22801503, 23062600, 23063648, 23635659, 24920614, 26226631, 26227615, 26908597, 27101547, 27432186, 28379367		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	23063648, 23635659		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	34220798	Stimulate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25103363		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33430905	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28152669		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	35821008	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	27683119		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10811861, 17940506, 18937284, 19115233, 20143334, 23686314, 25084196, 25454514, 26176334, 28699810, 30318519, 31084432		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18937284, 19593789, 20143334, 21115820, 21692986, 25084196, 25613364, 25681442, 29333087, 30318519, 37890607	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24520372, 25454514	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	30463566		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	29333087	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29391759	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	27683119		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	24587265		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23082029, 27128972	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	23686314		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30402867		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28981140		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	23141414	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31454697		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28901418		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21091798, 23082029, 25704627		★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal disease	Pubtator	31513338	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	23141414		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29651267		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	35821008	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25337239	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Frontotemporal dementia	BEFREE	23063648, 23141414, 23634771, 24309268		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	23063648, 23634771, 24309268	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	23041957, 23141414, 23182804, 23312802, 28980860		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24747440		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24747440		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24747440		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28901418		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	32127471	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28541412, 30402867, 31599437		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35313204	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	38128927	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	24587265	Associate	★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17051635, 30638858		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	17051635		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	29760185, 31216283, 33767237	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25741138, 27862305	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	15365097		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	20618332	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10811861, 17940506, 18937284, 19115233, 20143334, 23686314, 25084196, 25454514, 26176334, 28699810, 30318519, 31084432		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16215274, 25103363		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23326535, 26325675		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25741138		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	27683119		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20143334, 23827010, 25084196, 25103363, 27496138, 28688208, 28699810		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	19115233		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30318519		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29651267		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	27681617, 28847504, 29129529		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	23141414		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	23141414, 31216283	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis I	Mucopolysaccharidosis	Pubtator	39769211	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis III	Mucopolysaccharidosis	Pubtator	39735993	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	Pubtator	39735993	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	29945297		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	29945297	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28387896		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	18384219	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	LHGDN	18384219		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20143334, 21091798, 23326535, 23331014, 24747440, 25103363, 25741138, 26176334, 26325675, 27683119, 27862305, 30638858, 31454697		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	31550443		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	35688275, 37576538	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23063648, 25499087, 27681617		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31081149		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31991009	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25927284		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25927284	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16215274, 25103363		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16215274, 28688208	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25502777	Associate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	23063648, 23141414, 23634771		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	23141414		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	29031854		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23326535, 26325675		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23326535, 26325675	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21091798, 23082029, 25704627		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	22197680		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	27862305		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	21517111		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27862305, 40171814	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25741138		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25741138	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	35313204	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23430586		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	23430586	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22159600, 26889680, 26955879, 34121689	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	36160709	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	36160709	Associate	★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	25187265		★☆☆☆☆ Found in Text Mining only