CDC42 (cell division cycle 42)

Gene

• Entrez ID: 998
• Gene name: Cell division cycle 42
• Gene symbol: CDC42
• Synonyms (NCBI Gene): CDC42Hs, G25K, TKS
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly simila

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs797044870	A>G	Pathogenic	Missense variant, coding sequence variant
rs797044916	A>G	Pathogenic	Missense variant, coding sequence variant
rs864309721	A>G	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057518022	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795845	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1553196096	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1553196100	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1553196101	T>C	Pathogenic	Coding sequence variant, missense variant
rs1553196119	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553196134	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553196539	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1570024112	T>C	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000636	hsa-miR-224-5p	Luciferase reporter assay, qRT-PCR, Western blot	20023705
MIRT004037	hsa-miR-185-5p	Luciferase reporter assay, qRT-PCR, Western blot	21186079
MIRT004037	hsa-miR-185-5p	Luciferase reporter assay, qRT-PCR, Western blot	21186079
MIRT005485	hsa-miR-137	Luciferase reporter assay, Western blot	20473940
MIRT005964	hsa-miR-216a-5p	Immunohistochemistry, Luciferase reporter assay, Western blot	21149267
MIRT005964	hsa-miR-216a-5p	Immunohistochemistry, Luciferase reporter assay, Western blot	21149267
MIRT005965	hsa-miR-330-3p	Immunohistochemistry, Luciferase reporter assay, Western blot	21149267
MIRT005965	hsa-miR-330-3p	Immunohistochemistry, Luciferase reporter assay, Western blot	21149267
MIRT005966	hsa-miR-608	Immunohistochemistry, Luciferase reporter assay, Western blot	21149267
MIRT005966	hsa-miR-608	Immunohistochemistry, Luciferase reporter assay, Western blot	21149267
MIRT005485	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21221794
MIRT005485	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21221794
MIRT006488	hsa-miR-29b-3p	Luciferase reporter assay, Western blot	19079265
MIRT006488	hsa-miR-29b-3p	Luciferase reporter assay, Western blot	19079265
MIRT006489	hsa-miR-29c-3p	Luciferase reporter assay, Western blot	19079265
MIRT006489	hsa-miR-29c-3p	Luciferase reporter assay, Western blot	19079265
MIRT006489	hsa-miR-29c-3p	Luciferase reporter assay, Western blot	19079265
MIRT006489	hsa-miR-29c-3p	Luciferase reporter assay, Western blot	19079265
MIRT006488	hsa-miR-29b-3p	Luciferase reporter assay, Western blot	19079265
MIRT006490	hsa-miR-29a-3p	Luciferase reporter assay, Western blot	19079265
MIRT006490	hsa-miR-29a-3p	Luciferase reporter assay, Western blot	19079265
MIRT005485	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21221794
MIRT006488	hsa-miR-29b-3p	Luciferase reporter assay, Western blot	19079265
MIRT006488	hsa-miR-29b-3p	Luciferase reporter assay, Western blot	19079265
MIRT006489	hsa-miR-29c-3p	Luciferase reporter assay, Western blot	19079265
MIRT006489	hsa-miR-29c-3p	Luciferase reporter assay, Western blot	19079265
MIRT006489	hsa-miR-29c-3p	Luciferase reporter assay, Western blot	19079265
MIRT006489	hsa-miR-29c-3p	Luciferase reporter assay, Western blot	19079265
MIRT006488	hsa-miR-29b-3p	Luciferase reporter assay, Western blot	19079265
MIRT006490	hsa-miR-29a-3p	Luciferase reporter assay, Western blot	19079265
MIRT006490	hsa-miR-29a-3p	Luciferase reporter assay, Western blot	19079265
MIRT006995	hsa-miR-195-5p	Luciferase reporter assay	22802111
MIRT006995	hsa-miR-195-5p	Luciferase reporter assay	22802111
MIRT005485	hsa-miR-137	Luciferase reporter assay	23178712
MIRT005485	hsa-miR-137	Luciferase reporter assay	23178712
MIRT005965	hsa-miR-330-3p	Luciferase reporter assay, qRT-PCR, Western blot	23337504
MIRT005965	hsa-miR-330-3p	Luciferase reporter assay, qRT-PCR, Western blot	23337504
MIRT005965	hsa-miR-330-3p	Luciferase reporter assay, Western blot	23337504
MIRT019885	hsa-miR-375	qRT-PCR;Microarray	20584986
MIRT005485	hsa-miR-137	Reporter assay;Other	20473940
MIRT023726	hsa-miR-1-3p	Proteomics	18668040
MIRT044369	hsa-miR-106b-5p	CLASH	23622248
MIRT041813	hsa-miR-484	CLASH	23622248
MIRT038837	hsa-miR-93-3p	CLASH	23622248
MIRT000636	hsa-miR-224-5p	qRT-PCR	24817781
MIRT053177	hsa-miR-133b	Immunoblot, Luciferase reporter assay, Microarray	22179829
MIRT006490	hsa-miR-29a-3p	qRT-PCR, Western blot	20507733
MIRT006488	hsa-miR-29b-3p	qRT-PCR, Western blot	20507733
MIRT006489	hsa-miR-29c-3p	qRT-PCR, Western blot	20507733
MIRT000327	hsa-miR-133a-3p	Luciferase reporter assay, qRT-PCR, Western blot	25152372
MIRT000327	hsa-miR-133a-3p	Luciferase reporter assay, qRT-PCR, Western blot	25152372
MIRT053177	hsa-miR-133b	Luciferase reporter assay, qRT-PCR, Western blot	25152372
MIRT053177	hsa-miR-133b	Luciferase reporter assay, qRT-PCR, Western blot	25152372
MIRT054636	hsa-miR-204-5p	ChIP-seq, Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	24613926
MIRT054636	hsa-miR-204-5p	ChIP-seq, Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	24613926
0	hsa-miR-133b	Luciferase reporter assay, qRT-PCR, Western blot	22179829
MIRT005485	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	24465609
MIRT006995	hsa-miR-195-5p	Luciferase reporter assay, qRT-PCR, Western blot	24025765
MIRT000636	hsa-miR-224-5p	Microarray, qRT-PCR, Western blot	22989374
MIRT000636	hsa-miR-224-5p	Microarray, qRT-PCR, Western blot	22989374
MIRT006490	hsa-miR-29a-3p	Luciferase reporter assay	24085298
MIRT000636	hsa-miR-224-5p	Microarray, qRT-PCR, Western blot	22989374
MIRT000636	hsa-miR-224-5p	Microarray, qRT-PCR, Western blot	22989374
MIRT006490	hsa-miR-29a-3p	Luciferase reporter assay	24085298
MIRT704845	hsa-miR-21-3p	HITS-CLIP	23313552
MIRT704844	hsa-miR-3591-3p	HITS-CLIP	23313552
MIRT704843	hsa-miR-3914	HITS-CLIP	23313552
MIRT704842	hsa-miR-1207-3p	HITS-CLIP	23313552
MIRT133821	hsa-miR-20a-3p	HITS-CLIP	23313552
MIRT440971	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT440971	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT736283	hsa-miR-6132	Microarray, RNA-seq	32075190
MIRT704845	hsa-miR-21-3p	HITS-CLIP	23313552
MIRT704844	hsa-miR-3591-3p	HITS-CLIP	23313552
MIRT704843	hsa-miR-3914	HITS-CLIP	23313552
MIRT704842	hsa-miR-1207-3p	HITS-CLIP	23313552
MIRT133821	hsa-miR-20a-3p	HITS-CLIP	23313552
MIRT755936	hsa-miR-206	Luciferase reporter assay, Western blotting, in vitro cullelar assays	38069061
MIRT877637	hsa-miR-1226	CLIP-seq
MIRT877638	hsa-miR-1238	CLIP-seq
MIRT877639	hsa-miR-1257	CLIP-seq
MIRT877640	hsa-miR-1265	CLIP-seq
MIRT877641	hsa-miR-1272	CLIP-seq
MIRT877642	hsa-miR-1278	CLIP-seq
MIRT877643	hsa-miR-1322	CLIP-seq
MIRT877644	hsa-miR-25	CLIP-seq
MIRT877645	hsa-miR-2964a-5p	CLIP-seq
MIRT877646	hsa-miR-298	CLIP-seq
MIRT877647	hsa-miR-29a	CLIP-seq
MIRT877648	hsa-miR-29b	CLIP-seq
MIRT877649	hsa-miR-29c	CLIP-seq
MIRT877650	hsa-miR-3065-5p	CLIP-seq
MIRT877651	hsa-miR-3120-5p	CLIP-seq
MIRT877652	hsa-miR-3140-3p	CLIP-seq
MIRT877653	hsa-miR-3153	CLIP-seq
MIRT877654	hsa-miR-3192	CLIP-seq
MIRT877655	hsa-miR-32	CLIP-seq
MIRT877656	hsa-miR-3202	CLIP-seq
MIRT877657	hsa-miR-3605-5p	CLIP-seq
MIRT877658	hsa-miR-363	CLIP-seq
MIRT877659	hsa-miR-367	CLIP-seq
MIRT877660	hsa-miR-3689a-3p	CLIP-seq
MIRT877661	hsa-miR-3689c	CLIP-seq
MIRT877662	hsa-miR-3692	CLIP-seq
MIRT877663	hsa-miR-371b-5p	CLIP-seq
MIRT877664	hsa-miR-3923	CLIP-seq
MIRT877665	hsa-miR-3925-3p	CLIP-seq
MIRT877666	hsa-miR-3944-5p	CLIP-seq
MIRT877667	hsa-miR-421	CLIP-seq
MIRT877668	hsa-miR-4270	CLIP-seq
MIRT877669	hsa-miR-4271	CLIP-seq
MIRT877670	hsa-miR-4275	CLIP-seq
MIRT877671	hsa-miR-4426	CLIP-seq
MIRT877672	hsa-miR-4441	CLIP-seq
MIRT877673	hsa-miR-4474-5p	CLIP-seq
MIRT877674	hsa-miR-4528	CLIP-seq
MIRT877675	hsa-miR-4647	CLIP-seq
MIRT877676	hsa-miR-4655-3p	CLIP-seq
MIRT877677	hsa-miR-4662b	CLIP-seq
MIRT877678	hsa-miR-4666-3p	CLIP-seq
MIRT877679	hsa-miR-4668-5p	CLIP-seq
MIRT877680	hsa-miR-4698	CLIP-seq
MIRT877681	hsa-miR-4716-3p	CLIP-seq
MIRT877682	hsa-miR-4725-3p	CLIP-seq
MIRT877683	hsa-miR-4728-5p	CLIP-seq
MIRT877684	hsa-miR-4747-5p	CLIP-seq
MIRT877685	hsa-miR-4764-5p	CLIP-seq
MIRT877686	hsa-miR-4777-3p	CLIP-seq
MIRT877687	hsa-miR-4797-5p	CLIP-seq
MIRT877688	hsa-miR-516b	CLIP-seq
MIRT877689	hsa-miR-518a-5p	CLIP-seq
MIRT877690	hsa-miR-520a-5p	CLIP-seq
MIRT877691	hsa-miR-525-5p	CLIP-seq
MIRT877692	hsa-miR-527	CLIP-seq
MIRT877693	hsa-miR-548ad	CLIP-seq
MIRT877694	hsa-miR-616	CLIP-seq
MIRT877695	hsa-miR-625	CLIP-seq
MIRT877696	hsa-miR-646	CLIP-seq
MIRT877697	hsa-miR-654-3p	CLIP-seq
MIRT877698	hsa-miR-759	CLIP-seq
MIRT877699	hsa-miR-760	CLIP-seq
MIRT877700	hsa-miR-766	CLIP-seq
MIRT877701	hsa-miR-888	CLIP-seq
MIRT877702	hsa-miR-92a	CLIP-seq
MIRT877703	hsa-miR-92b	CLIP-seq
MIRT877637	hsa-miR-1226	CLIP-seq
MIRT877638	hsa-miR-1238	CLIP-seq
MIRT877704	hsa-miR-1243	CLIP-seq
MIRT877641	hsa-miR-1272	CLIP-seq
MIRT877643	hsa-miR-1322	CLIP-seq
MIRT877705	hsa-miR-185	CLIP-seq
MIRT877706	hsa-miR-18a	CLIP-seq
MIRT877707	hsa-miR-18b	CLIP-seq
MIRT877708	hsa-miR-1909	CLIP-seq
MIRT877709	hsa-miR-200b	CLIP-seq
MIRT877710	hsa-miR-200c	CLIP-seq
MIRT877646	hsa-miR-298	CLIP-seq
MIRT877711	hsa-miR-299-3p	CLIP-seq
MIRT877647	hsa-miR-29a	CLIP-seq
MIRT877648	hsa-miR-29b	CLIP-seq
MIRT877649	hsa-miR-29c	CLIP-seq
MIRT877650	hsa-miR-3065-5p	CLIP-seq
MIRT877651	hsa-miR-3120-5p	CLIP-seq
MIRT877712	hsa-miR-3132	CLIP-seq
MIRT877713	hsa-miR-3148	CLIP-seq
MIRT877714	hsa-miR-342-3p	CLIP-seq
MIRT877715	hsa-miR-361-5p	CLIP-seq
MIRT877716	hsa-miR-3654	CLIP-seq
MIRT877717	hsa-miR-3671	CLIP-seq
MIRT877663	hsa-miR-371b-5p	CLIP-seq
MIRT877665	hsa-miR-3925-3p	CLIP-seq
MIRT877666	hsa-miR-3944-5p	CLIP-seq
MIRT877667	hsa-miR-421	CLIP-seq
MIRT877668	hsa-miR-4270	CLIP-seq
MIRT877670	hsa-miR-4275	CLIP-seq
MIRT877718	hsa-miR-4276	CLIP-seq
MIRT877719	hsa-miR-4282	CLIP-seq
MIRT877720	hsa-miR-429	CLIP-seq
MIRT877721	hsa-miR-4306	CLIP-seq
MIRT877672	hsa-miR-4441	CLIP-seq
MIRT877673	hsa-miR-4474-5p	CLIP-seq
MIRT877722	hsa-miR-4644	CLIP-seq
MIRT877676	hsa-miR-4655-3p	CLIP-seq
MIRT877723	hsa-miR-4659a-3p	CLIP-seq
MIRT877724	hsa-miR-4659b-3p	CLIP-seq
MIRT877678	hsa-miR-4666-3p	CLIP-seq
MIRT877679	hsa-miR-4668-5p	CLIP-seq
MIRT877680	hsa-miR-4698	CLIP-seq
MIRT877725	hsa-miR-4729	CLIP-seq
MIRT877726	hsa-miR-4735-3p	CLIP-seq
MIRT877727	hsa-miR-4760-3p	CLIP-seq
MIRT877728	hsa-miR-4761-3p	CLIP-seq
MIRT877687	hsa-miR-4797-5p	CLIP-seq
MIRT877729	hsa-miR-488	CLIP-seq
MIRT877688	hsa-miR-516b	CLIP-seq
MIRT877690	hsa-miR-520a-5p	CLIP-seq
MIRT877730	hsa-miR-520d-5p	CLIP-seq
MIRT877731	hsa-miR-524-5p	CLIP-seq
MIRT877691	hsa-miR-525-5p	CLIP-seq
MIRT877732	hsa-miR-532-5p	CLIP-seq
MIRT877733	hsa-miR-548an	CLIP-seq
MIRT877734	hsa-miR-579	CLIP-seq
MIRT877735	hsa-miR-607	CLIP-seq
MIRT877696	hsa-miR-646	CLIP-seq
MIRT877697	hsa-miR-654-3p	CLIP-seq
MIRT877736	hsa-miR-664	CLIP-seq
MIRT877698	hsa-miR-759	CLIP-seq
MIRT877699	hsa-miR-760	CLIP-seq
MIRT877700	hsa-miR-766	CLIP-seq
MIRT877701	hsa-miR-888	CLIP-seq
MIRT1960070	hsa-miR-1	CLIP-seq
MIRT877637	hsa-miR-1226	CLIP-seq
MIRT877638	hsa-miR-1238	CLIP-seq
MIRT877641	hsa-miR-1272	CLIP-seq
MIRT1960071	hsa-miR-128	CLIP-seq
MIRT877643	hsa-miR-1322	CLIP-seq
MIRT877705	hsa-miR-185	CLIP-seq
MIRT1960072	hsa-miR-2053	CLIP-seq
MIRT755936	hsa-miR-206	CLIP-seq
MIRT1960073	hsa-miR-2117	CLIP-seq
MIRT1960074	hsa-miR-224	CLIP-seq
MIRT1960075	hsa-miR-27a	CLIP-seq
MIRT1960076	hsa-miR-27b	CLIP-seq
MIRT877646	hsa-miR-298	CLIP-seq
MIRT877647	hsa-miR-29a	CLIP-seq
MIRT877648	hsa-miR-29b	CLIP-seq
MIRT877649	hsa-miR-29c	CLIP-seq
MIRT877650	hsa-miR-3065-5p	CLIP-seq
MIRT1960077	hsa-miR-31	CLIP-seq
MIRT877651	hsa-miR-3120-5p	CLIP-seq
MIRT877652	hsa-miR-3140-3p	CLIP-seq
MIRT1960078	hsa-miR-3146	CLIP-seq
MIRT1960079	hsa-miR-3160-3p	CLIP-seq
MIRT1960080	hsa-miR-3184	CLIP-seq
MIRT1960081	hsa-miR-3660	CLIP-seq
MIRT1960082	hsa-miR-3673	CLIP-seq
MIRT877662	hsa-miR-3692	CLIP-seq
MIRT877666	hsa-miR-3944-5p	CLIP-seq
MIRT877667	hsa-miR-421	CLIP-seq
MIRT1960083	hsa-miR-423-5p	CLIP-seq
MIRT1960084	hsa-miR-4255	CLIP-seq
MIRT1960085	hsa-miR-4256	CLIP-seq
MIRT1960086	hsa-miR-4273	CLIP-seq
MIRT877670	hsa-miR-4275	CLIP-seq
MIRT1960087	hsa-miR-4286	CLIP-seq
MIRT877721	hsa-miR-4306	CLIP-seq
MIRT1960088	hsa-miR-4307	CLIP-seq
MIRT1960089	hsa-miR-4312	CLIP-seq
MIRT1960090	hsa-miR-433	CLIP-seq
MIRT877671	hsa-miR-4426	CLIP-seq
MIRT1960091	hsa-miR-4437	CLIP-seq
MIRT1960092	hsa-miR-4470	CLIP-seq
MIRT1960093	hsa-miR-4487	CLIP-seq
MIRT1960094	hsa-miR-4491	CLIP-seq
MIRT1960095	hsa-miR-4526	CLIP-seq
MIRT877722	hsa-miR-4644	CLIP-seq
MIRT877675	hsa-miR-4647	CLIP-seq
MIRT877676	hsa-miR-4655-3p	CLIP-seq
MIRT1960096	hsa-miR-4657	CLIP-seq
MIRT877677	hsa-miR-4662b	CLIP-seq
MIRT877678	hsa-miR-4666-3p	CLIP-seq
MIRT1960097	hsa-miR-4674	CLIP-seq
MIRT1960098	hsa-miR-4688	CLIP-seq
MIRT1960099	hsa-miR-4704-3p	CLIP-seq
MIRT1960100	hsa-miR-4713-5p	CLIP-seq
MIRT1960101	hsa-miR-4762-3p	CLIP-seq
MIRT1960102	hsa-miR-4762-5p	CLIP-seq
MIRT1960103	hsa-miR-4779	CLIP-seq
MIRT877687	hsa-miR-4797-5p	CLIP-seq
MIRT877729	hsa-miR-488	CLIP-seq
MIRT877688	hsa-miR-516b	CLIP-seq
MIRT877732	hsa-miR-532-5p	CLIP-seq
MIRT1960104	hsa-miR-545	CLIP-seq
MIRT1960105	hsa-miR-558	CLIP-seq
MIRT1960106	hsa-miR-583	CLIP-seq
MIRT1960107	hsa-miR-595	CLIP-seq
MIRT1960108	hsa-miR-613	CLIP-seq
MIRT877696	hsa-miR-646	CLIP-seq
MIRT877697	hsa-miR-654-3p	CLIP-seq
MIRT877699	hsa-miR-760	CLIP-seq
MIRT877701	hsa-miR-888	CLIP-seq
MIRT1960070	hsa-miR-1	CLIP-seq
MIRT877637	hsa-miR-1226	CLIP-seq
MIRT877638	hsa-miR-1238	CLIP-seq
MIRT877704	hsa-miR-1243	CLIP-seq
MIRT877639	hsa-miR-1257	CLIP-seq
MIRT877640	hsa-miR-1265	CLIP-seq
MIRT877641	hsa-miR-1272	CLIP-seq
MIRT877642	hsa-miR-1278	CLIP-seq
MIRT1960071	hsa-miR-128	CLIP-seq
MIRT877643	hsa-miR-1322	CLIP-seq
MIRT2196955	hsa-miR-141	CLIP-seq
MIRT2196956	hsa-miR-1827	CLIP-seq
MIRT877705	hsa-miR-185	CLIP-seq
MIRT877706	hsa-miR-18a	CLIP-seq
MIRT877707	hsa-miR-18b	CLIP-seq
MIRT877708	hsa-miR-1909	CLIP-seq
MIRT2196957	hsa-miR-200a	CLIP-seq
MIRT755936	hsa-miR-206	CLIP-seq
MIRT2196958	hsa-miR-2110	CLIP-seq
MIRT1960074	hsa-miR-224	CLIP-seq
MIRT877644	hsa-miR-25	CLIP-seq
MIRT1960075	hsa-miR-27a	CLIP-seq
MIRT1960076	hsa-miR-27b	CLIP-seq
MIRT877646	hsa-miR-298	CLIP-seq
MIRT877711	hsa-miR-299-3p	CLIP-seq
MIRT877647	hsa-miR-29a	CLIP-seq
MIRT877648	hsa-miR-29b	CLIP-seq
MIRT877649	hsa-miR-29c	CLIP-seq
MIRT877650	hsa-miR-3065-5p	CLIP-seq
MIRT1960077	hsa-miR-31	CLIP-seq
MIRT877651	hsa-miR-3120-5p	CLIP-seq
MIRT2196959	hsa-miR-3124-3p	CLIP-seq
MIRT2196960	hsa-miR-3127-3p	CLIP-seq
MIRT877712	hsa-miR-3132	CLIP-seq
MIRT877652	hsa-miR-3140-3p	CLIP-seq
MIRT1960078	hsa-miR-3146	CLIP-seq
MIRT1960079	hsa-miR-3160-3p	CLIP-seq
MIRT2196961	hsa-miR-3179	CLIP-seq
MIRT1960080	hsa-miR-3184	CLIP-seq
MIRT2196962	hsa-miR-3190	CLIP-seq
MIRT877654	hsa-miR-3192	CLIP-seq
MIRT877655	hsa-miR-32	CLIP-seq
MIRT877656	hsa-miR-3202	CLIP-seq
MIRT2196963	hsa-miR-34b	CLIP-seq
MIRT877657	hsa-miR-3605-5p	CLIP-seq
MIRT2196964	hsa-miR-3613-3p	CLIP-seq
MIRT877715	hsa-miR-361-5p	CLIP-seq
MIRT2196965	hsa-miR-3622a-3p	CLIP-seq
MIRT2196966	hsa-miR-3622b-3p	CLIP-seq
MIRT877658	hsa-miR-363	CLIP-seq
MIRT2196967	hsa-miR-3646	CLIP-seq
MIRT2196968	hsa-miR-3653	CLIP-seq
MIRT877716	hsa-miR-3654	CLIP-seq
MIRT2196969	hsa-miR-3658	CLIP-seq
MIRT2196970	hsa-miR-3663-3p	CLIP-seq
MIRT2196971	hsa-miR-3667-3p	CLIP-seq
MIRT877659	hsa-miR-367	CLIP-seq
MIRT877717	hsa-miR-3671	CLIP-seq
MIRT1960082	hsa-miR-3673	CLIP-seq
MIRT877660	hsa-miR-3689a-3p	CLIP-seq
MIRT877661	hsa-miR-3689c	CLIP-seq
MIRT877662	hsa-miR-3692	CLIP-seq
MIRT877663	hsa-miR-371b-5p	CLIP-seq
MIRT877664	hsa-miR-3923	CLIP-seq
MIRT877665	hsa-miR-3925-3p	CLIP-seq
MIRT877666	hsa-miR-3944-5p	CLIP-seq
MIRT877667	hsa-miR-421	CLIP-seq
MIRT1960083	hsa-miR-423-5p	CLIP-seq
MIRT877668	hsa-miR-4270	CLIP-seq
MIRT877669	hsa-miR-4271	CLIP-seq
MIRT877670	hsa-miR-4275	CLIP-seq
MIRT877721	hsa-miR-4306	CLIP-seq
MIRT1960088	hsa-miR-4307	CLIP-seq
MIRT1960089	hsa-miR-4312	CLIP-seq
MIRT1960090	hsa-miR-433	CLIP-seq
MIRT877671	hsa-miR-4426	CLIP-seq
MIRT1960091	hsa-miR-4437	CLIP-seq
MIRT877672	hsa-miR-4441	CLIP-seq
MIRT1960092	hsa-miR-4470	CLIP-seq
MIRT877673	hsa-miR-4474-5p	CLIP-seq
MIRT2196972	hsa-miR-4477a	CLIP-seq
MIRT1960093	hsa-miR-4487	CLIP-seq
MIRT1960094	hsa-miR-4491	CLIP-seq
MIRT877674	hsa-miR-4528	CLIP-seq
MIRT2196973	hsa-miR-4639-5p	CLIP-seq
MIRT877722	hsa-miR-4644	CLIP-seq
MIRT877675	hsa-miR-4647	CLIP-seq
MIRT2196974	hsa-miR-4650-5p	CLIP-seq
MIRT877676	hsa-miR-4655-3p	CLIP-seq
MIRT1960096	hsa-miR-4657	CLIP-seq
MIRT877723	hsa-miR-4659a-3p	CLIP-seq
MIRT877724	hsa-miR-4659b-3p	CLIP-seq
MIRT877677	hsa-miR-4662b	CLIP-seq
MIRT1960097	hsa-miR-4674	CLIP-seq
MIRT1960098	hsa-miR-4688	CLIP-seq
MIRT2196975	hsa-miR-4690-5p	CLIP-seq
MIRT877680	hsa-miR-4698	CLIP-seq
MIRT2196976	hsa-miR-4699-3p	CLIP-seq
MIRT1960099	hsa-miR-4704-3p	CLIP-seq
MIRT877681	hsa-miR-4716-3p	CLIP-seq
MIRT877682	hsa-miR-4725-3p	CLIP-seq
MIRT877683	hsa-miR-4728-5p	CLIP-seq
MIRT877725	hsa-miR-4729	CLIP-seq
MIRT877726	hsa-miR-4735-3p	CLIP-seq
MIRT877684	hsa-miR-4747-5p	CLIP-seq
MIRT877727	hsa-miR-4760-3p	CLIP-seq
MIRT877728	hsa-miR-4761-3p	CLIP-seq
MIRT1960102	hsa-miR-4762-5p	CLIP-seq
MIRT877685	hsa-miR-4764-5p	CLIP-seq
MIRT1960103	hsa-miR-4779	CLIP-seq
MIRT877687	hsa-miR-4797-5p	CLIP-seq
MIRT2196977	hsa-miR-4800-3p	CLIP-seq
MIRT877729	hsa-miR-488	CLIP-seq
MIRT877688	hsa-miR-516b	CLIP-seq
MIRT877690	hsa-miR-520a-5p	CLIP-seq
MIRT877691	hsa-miR-525-5p	CLIP-seq
MIRT877732	hsa-miR-532-5p	CLIP-seq
MIRT1960104	hsa-miR-545	CLIP-seq
MIRT877733	hsa-miR-548an	CLIP-seq
MIRT2196978	hsa-miR-548c-3p	CLIP-seq
MIRT1960105	hsa-miR-558	CLIP-seq
MIRT2196979	hsa-miR-567	CLIP-seq
MIRT877734	hsa-miR-579	CLIP-seq
MIRT1960106	hsa-miR-583	CLIP-seq
MIRT2196980	hsa-miR-587	CLIP-seq
MIRT877735	hsa-miR-607	CLIP-seq
MIRT1960108	hsa-miR-613	CLIP-seq
MIRT877694	hsa-miR-616	CLIP-seq
MIRT877695	hsa-miR-625	CLIP-seq
MIRT877696	hsa-miR-646	CLIP-seq
MIRT877697	hsa-miR-654-3p	CLIP-seq
MIRT877736	hsa-miR-664	CLIP-seq
MIRT877698	hsa-miR-759	CLIP-seq
MIRT877699	hsa-miR-760	CLIP-seq
MIRT877700	hsa-miR-766	CLIP-seq
MIRT877701	hsa-miR-888	CLIP-seq
MIRT2196981	hsa-miR-891b	CLIP-seq
MIRT2196982	hsa-miR-924	CLIP-seq
MIRT877702	hsa-miR-92a	CLIP-seq
MIRT877703	hsa-miR-92b	CLIP-seq
MIRT877637	hsa-miR-1226	CLIP-seq
MIRT877639	hsa-miR-1257	CLIP-seq
MIRT877705	hsa-miR-185	CLIP-seq
MIRT877708	hsa-miR-1909	CLIP-seq
MIRT877644	hsa-miR-25	CLIP-seq
MIRT877646	hsa-miR-298	CLIP-seq
MIRT877712	hsa-miR-3132	CLIP-seq
MIRT877652	hsa-miR-3140-3p	CLIP-seq
MIRT877655	hsa-miR-32	CLIP-seq
MIRT877658	hsa-miR-363	CLIP-seq
MIRT1960081	hsa-miR-3660	CLIP-seq
MIRT877659	hsa-miR-367	CLIP-seq
MIRT877666	hsa-miR-3944-5p	CLIP-seq
MIRT1960085	hsa-miR-4256	CLIP-seq
MIRT877668	hsa-miR-4270	CLIP-seq
MIRT877670	hsa-miR-4275	CLIP-seq
MIRT877721	hsa-miR-4306	CLIP-seq
MIRT877672	hsa-miR-4441	CLIP-seq
MIRT1960095	hsa-miR-4526	CLIP-seq
MIRT877674	hsa-miR-4528	CLIP-seq
MIRT2196973	hsa-miR-4639-5p	CLIP-seq
MIRT877722	hsa-miR-4644	CLIP-seq
MIRT877678	hsa-miR-4666-3p	CLIP-seq
MIRT877728	hsa-miR-4761-3p	CLIP-seq
MIRT1960101	hsa-miR-4762-3p	CLIP-seq
MIRT877688	hsa-miR-516b	CLIP-seq
MIRT877689	hsa-miR-518a-5p	CLIP-seq
MIRT877690	hsa-miR-520a-5p	CLIP-seq
MIRT877691	hsa-miR-525-5p	CLIP-seq
MIRT877692	hsa-miR-527	CLIP-seq
MIRT877693	hsa-miR-548ad	CLIP-seq
MIRT877694	hsa-miR-616	CLIP-seq
MIRT877696	hsa-miR-646	CLIP-seq
MIRT877698	hsa-miR-759	CLIP-seq
MIRT877699	hsa-miR-760	CLIP-seq
MIRT877701	hsa-miR-888	CLIP-seq
MIRT877702	hsa-miR-92a	CLIP-seq
MIRT877703	hsa-miR-92b	CLIP-seq
MIRT877706	hsa-miR-18a	CLIP-seq
MIRT877707	hsa-miR-18b	CLIP-seq
MIRT877667	hsa-miR-421	CLIP-seq
MIRT877723	hsa-miR-4659a-3p	CLIP-seq
MIRT877724	hsa-miR-4659b-3p	CLIP-seq
MIRT877725	hsa-miR-4729	CLIP-seq
MIRT877726	hsa-miR-4735-3p	CLIP-seq
MIRT877734	hsa-miR-579	CLIP-seq
MIRT2196955	hsa-miR-141	CLIP-seq
MIRT2196957	hsa-miR-200a	CLIP-seq
MIRT877705	hsa-miR-185	CLIP-seq
MIRT877721	hsa-miR-4306	CLIP-seq
MIRT877722	hsa-miR-4644	CLIP-seq
MIRT877701	hsa-miR-888	CLIP-seq
MIRT1960070	hsa-miR-1	CLIP-seq
MIRT877637	hsa-miR-1226	CLIP-seq
MIRT877638	hsa-miR-1238	CLIP-seq
MIRT877704	hsa-miR-1243	CLIP-seq
MIRT877641	hsa-miR-1272	CLIP-seq
MIRT2677831	hsa-miR-1283	CLIP-seq
MIRT877643	hsa-miR-1322	CLIP-seq
MIRT2196955	hsa-miR-141	CLIP-seq
MIRT2196956	hsa-miR-1827	CLIP-seq
MIRT877705	hsa-miR-185	CLIP-seq
MIRT877706	hsa-miR-18a	CLIP-seq
MIRT877707	hsa-miR-18b	CLIP-seq
MIRT877708	hsa-miR-1909	CLIP-seq
MIRT2196957	hsa-miR-200a	CLIP-seq
MIRT877709	hsa-miR-200b	CLIP-seq
MIRT877710	hsa-miR-200c	CLIP-seq
MIRT755936	hsa-miR-206	CLIP-seq
MIRT2196958	hsa-miR-2110	CLIP-seq
MIRT1960074	hsa-miR-224	CLIP-seq
MIRT877644	hsa-miR-25	CLIP-seq
MIRT2677832	hsa-miR-28-3p	CLIP-seq
MIRT877645	hsa-miR-2964a-5p	CLIP-seq
MIRT877646	hsa-miR-298	CLIP-seq
MIRT877711	hsa-miR-299-3p	CLIP-seq
MIRT877647	hsa-miR-29a	CLIP-seq
MIRT877648	hsa-miR-29b	CLIP-seq
MIRT877649	hsa-miR-29c	CLIP-seq
MIRT877650	hsa-miR-3065-5p	CLIP-seq
MIRT1960077	hsa-miR-31	CLIP-seq
MIRT2677833	hsa-miR-3122	CLIP-seq
MIRT2196959	hsa-miR-3124-3p	CLIP-seq
MIRT2196960	hsa-miR-3127-3p	CLIP-seq
MIRT877712	hsa-miR-3132	CLIP-seq
MIRT877652	hsa-miR-3140-3p	CLIP-seq
MIRT877713	hsa-miR-3148	CLIP-seq
MIRT877653	hsa-miR-3153	CLIP-seq
MIRT1960080	hsa-miR-3184	CLIP-seq
MIRT2196962	hsa-miR-3190	CLIP-seq
MIRT877655	hsa-miR-32	CLIP-seq
MIRT2677834	hsa-miR-320e	CLIP-seq
MIRT2196964	hsa-miR-3613-3p	CLIP-seq
MIRT877715	hsa-miR-361-5p	CLIP-seq
MIRT877658	hsa-miR-363	CLIP-seq
MIRT2196967	hsa-miR-3646	CLIP-seq
MIRT2196968	hsa-miR-3653	CLIP-seq
MIRT877716	hsa-miR-3654	CLIP-seq
MIRT2196969	hsa-miR-3658	CLIP-seq
MIRT2196970	hsa-miR-3663-3p	CLIP-seq
MIRT2196971	hsa-miR-3667-3p	CLIP-seq
MIRT877659	hsa-miR-367	CLIP-seq
MIRT877717	hsa-miR-3671	CLIP-seq
MIRT1960082	hsa-miR-3673	CLIP-seq
MIRT2677835	hsa-miR-3913-5p	CLIP-seq
MIRT877665	hsa-miR-3925-3p	CLIP-seq
MIRT877666	hsa-miR-3944-5p	CLIP-seq
MIRT2677836	hsa-miR-3978	CLIP-seq
MIRT877667	hsa-miR-421	CLIP-seq
MIRT1960083	hsa-miR-423-5p	CLIP-seq
MIRT2677837	hsa-miR-4261	CLIP-seq
MIRT2677838	hsa-miR-4263	CLIP-seq
MIRT877668	hsa-miR-4270	CLIP-seq
MIRT877669	hsa-miR-4271	CLIP-seq
MIRT877718	hsa-miR-4276	CLIP-seq
MIRT877719	hsa-miR-4282	CLIP-seq
MIRT877720	hsa-miR-429	CLIP-seq
MIRT877721	hsa-miR-4306	CLIP-seq
MIRT1960088	hsa-miR-4307	CLIP-seq
MIRT1960090	hsa-miR-433	CLIP-seq
MIRT2677839	hsa-miR-4422	CLIP-seq
MIRT877671	hsa-miR-4426	CLIP-seq
MIRT1960091	hsa-miR-4437	CLIP-seq
MIRT877672	hsa-miR-4441	CLIP-seq
MIRT2677840	hsa-miR-4464	CLIP-seq
MIRT1960092	hsa-miR-4470	CLIP-seq
MIRT2677841	hsa-miR-4476	CLIP-seq
MIRT2196972	hsa-miR-4477a	CLIP-seq
MIRT1960094	hsa-miR-4491	CLIP-seq
MIRT877674	hsa-miR-4528	CLIP-seq
MIRT877722	hsa-miR-4644	CLIP-seq
MIRT877675	hsa-miR-4647	CLIP-seq
MIRT877676	hsa-miR-4655-3p	CLIP-seq
MIRT1960096	hsa-miR-4657	CLIP-seq
MIRT877723	hsa-miR-4659a-3p	CLIP-seq
MIRT877724	hsa-miR-4659b-3p	CLIP-seq
MIRT877677	hsa-miR-4662b	CLIP-seq
MIRT2677842	hsa-miR-4668-3p	CLIP-seq
MIRT877679	hsa-miR-4668-5p	CLIP-seq
MIRT2677843	hsa-miR-4670-3p	CLIP-seq
MIRT1960097	hsa-miR-4674	CLIP-seq
MIRT1960098	hsa-miR-4688	CLIP-seq
MIRT2196976	hsa-miR-4699-3p	CLIP-seq
MIRT877682	hsa-miR-4725-3p	CLIP-seq
MIRT877725	hsa-miR-4729	CLIP-seq
MIRT877726	hsa-miR-4735-3p	CLIP-seq
MIRT2677844	hsa-miR-4738-3p	CLIP-seq
MIRT877684	hsa-miR-4747-5p	CLIP-seq
MIRT2677845	hsa-miR-4748	CLIP-seq
MIRT877727	hsa-miR-4760-3p	CLIP-seq
MIRT877728	hsa-miR-4761-3p	CLIP-seq
MIRT2677846	hsa-miR-4766-5p	CLIP-seq
MIRT2677847	hsa-miR-4772-3p	CLIP-seq
MIRT2677848	hsa-miR-4775	CLIP-seq
MIRT877686	hsa-miR-4777-3p	CLIP-seq
MIRT1960103	hsa-miR-4779	CLIP-seq
MIRT2677849	hsa-miR-4795-5p	CLIP-seq
MIRT2677850	hsa-miR-4799-5p	CLIP-seq
MIRT2196977	hsa-miR-4800-3p	CLIP-seq
MIRT877729	hsa-miR-488	CLIP-seq
MIRT877689	hsa-miR-518a-5p	CLIP-seq
MIRT877690	hsa-miR-520a-5p	CLIP-seq
MIRT877730	hsa-miR-520d-5p	CLIP-seq
MIRT877731	hsa-miR-524-5p	CLIP-seq
MIRT877691	hsa-miR-525-5p	CLIP-seq
MIRT877692	hsa-miR-527	CLIP-seq
MIRT2677851	hsa-miR-539	CLIP-seq
MIRT1960104	hsa-miR-545	CLIP-seq
MIRT877693	hsa-miR-548ad	CLIP-seq
MIRT877733	hsa-miR-548an	CLIP-seq
MIRT2196978	hsa-miR-548c-3p	CLIP-seq
MIRT2196979	hsa-miR-567	CLIP-seq
MIRT2677852	hsa-miR-569	CLIP-seq
MIRT2677853	hsa-miR-576-5p	CLIP-seq
MIRT877734	hsa-miR-579	CLIP-seq
MIRT1960106	hsa-miR-583	CLIP-seq
MIRT2196980	hsa-miR-587	CLIP-seq
MIRT2677854	hsa-miR-590-3p	CLIP-seq
MIRT2677855	hsa-miR-603	CLIP-seq
MIRT2677856	hsa-miR-605	CLIP-seq
MIRT877735	hsa-miR-607	CLIP-seq
MIRT1960108	hsa-miR-613	CLIP-seq
MIRT877694	hsa-miR-616	CLIP-seq
MIRT877696	hsa-miR-646	CLIP-seq
MIRT2677857	hsa-miR-659	CLIP-seq
MIRT877736	hsa-miR-664	CLIP-seq
MIRT877698	hsa-miR-759	CLIP-seq
MIRT877699	hsa-miR-760	CLIP-seq
MIRT877700	hsa-miR-766	CLIP-seq
MIRT877701	hsa-miR-888	CLIP-seq
MIRT2196981	hsa-miR-891b	CLIP-seq
MIRT2196982	hsa-miR-924	CLIP-seq
MIRT877702	hsa-miR-92a	CLIP-seq
MIRT877703	hsa-miR-92b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PTTG1	Activation	22081074

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	ISS
GO:0000166	Function	Nucleotide binding	IEA
GO:0000322	Component	Storage vacuole	IEA
GO:0003015	Process	Heart process	IEA
GO:0003161	Process	Cardiac conduction system development	IEA
GO:0003253	Process	Cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	19787194, 27917469
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	11035016
GO:0003925	Function	G protein activity	IEA
GO:0005515	Function	Protein binding	IPI	7493928, 7512369, 9082982, 9262406, 9418861, 9422512, 9660763, 9846874, 10051605, 10360579, 10587647, 10816584, 10934474, 11035016, 11157984, 11260256, 11807099, 11889037, 12006984, 12093730, 12606577, 12745076, 12879077, 14676191, 15194684, 15361624, 15728724, 16189514, 16293614, 16
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IDA	8625410, 15601624, 23620790
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	11260256
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005813	Component	Centrosome	IDA	20873783
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11260256
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006897	Process	Endocytosis	IBA
GO:0006897	Process	Endocytosis	IEA
GO:0006911	Process	Phagocytosis, engulfment	IMP	26465210
GO:0007015	Process	Actin filament organization	IBA
GO:0007015	Process	Actin filament organization	IMP	26465210
GO:0007030	Process	Golgi organization	ISS
GO:0007088	Process	Regulation of mitotic nuclear division	IEA
GO:0007097	Process	Nuclear migration	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	TAS	11260256
GO:0007165	Process	Signal transduction	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IMP	26051942
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0010591	Process	Regulation of lamellipodium assembly	IGI	8625410
GO:0010592	Process	Positive regulation of lamellipodium assembly	IMP	8625410
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	11807099
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	IMP	22801373
GO:0016787	Function	Hydrolase activity	IEA
GO:0017119	Component	Golgi transport complex	IMP	16380373
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IDA	19039103
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	8625410, 20873783, 21048939
GO:0021762	Process	Substantia nigra development	HEP	22926577
GO:0030010	Process	Establishment of cell polarity	IBA
GO:0030036	Process	Actin cytoskeleton organization	IDA	11035016
GO:0030154	Process	Cell differentiation	IEA
GO:0030175	Component	Filopodium	IDA	11035016
GO:0030225	Process	Macrophage differentiation	TAS	11260256
GO:0030307	Process	Positive regulation of cell growth	IMP	21435037
GO:0030335	Process	Positive regulation of cell migration	IMP	20023705
GO:0030425	Component	Dendrite	IEA
GO:0030496	Component	Midbody	IDA	15642749
GO:0030496	Component	Midbody	IEA
GO:0030742	Function	GTP-dependent protein binding	IEA
GO:0031252	Component	Cell leading edge	IEA
GO:0031256	Component	Leading edge membrane	IEA
GO:0031274	Process	Positive regulation of pseudopodium assembly	IDA	11035016
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IPI	11584266
GO:0031996	Function	Thioesterase binding	IPI	12612085
GO:0032427	Function	GBD domain binding	IPI	8625410, 10724160
GO:0032467	Process	Positive regulation of cytokinesis	IMP	15642749
GO:0032956	Process	Regulation of actin cytoskeleton organization	IMP	26051942
GO:0032991	Component	Protein-containing complex	IDA	20873783
GO:0034191	Function	Apolipoprotein A-I receptor binding	IPI	16443932
GO:0034329	Process	Cell junction assembly	IMP	22891260
GO:0034332	Process	Adherens junction organization	IEA
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035088	Process	Establishment or maintenance of apical/basal cell polarity	IEA
GO:0036336	Process	Dendritic cell migration	IEA
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA	15121898
GO:0038189	Process	Neuropilin signaling pathway	IMP	26051942
GO:0042802	Function	Identical protein binding	IPI	9748241
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IDA	21048939
GO:0043025	Component	Neuronal cell body	IDA	21048939
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0044788	Process	Host-mediated perturbation of viral process	IMP	19376974
GO:0045177	Component	Apical part of cell	IEA
GO:0045198	Process	Establishment of epithelial cell apical/basal polarity	IMP	22891260
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0046847	Process	Filopodium assembly	IEA
GO:0048549	Process	Positive regulation of pinocytosis	IEA
GO:0048549	Process	Positive regulation of pinocytosis	ISS
GO:0048664	Process	Neuron fate determination	IEA
GO:0051130	Process	Positive regulation of cellular component organization	IEA
GO:0051233	Component	Spindle midzone	IDA	15642749
GO:0051489	Process	Regulation of filopodium assembly	IBA
GO:0051489	Process	Regulation of filopodium assembly	IDA	14978216
GO:0051491	Process	Positive regulation of filopodium assembly	IEA
GO:0051491	Process	Positive regulation of filopodium assembly	IMP	26051942
GO:0051491	Process	Positive regulation of filopodium assembly	ISS
GO:0051492	Process	Regulation of stress fiber assembly	IGI	8625410
GO:0051496	Process	Positive regulation of stress fiber assembly	IMP	8625410, 26051942
GO:0051647	Process	Nucleus localization	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051683	Process	Establishment of Golgi localization	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051988	Process	Regulation of attachment of spindle microtubules to kinetochore	IMP	15642749
GO:0060047	Process	Heart contraction	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	NAS	24431302
GO:0060501	Process	Positive regulation of epithelial cell proliferation involved in lung morphogenesis	IEA
GO:0060997	Process	Dendritic spine morphogenesis	IEA
GO:0060997	Process	Dendritic spine morphogenesis	ISS
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	21435037
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 23533145
GO:0071346	Process	Cellular response to type II interferon	IEA
GO:0071944	Component	Cell periphery	IEA
GO:0072384	Process	Organelle transport along microtubule	ISS
GO:0072686	Component	Mitotic spindle	IDA	15642749
GO:0086101	Process	Endothelin receptor signaling pathway involved in heart process	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099175	Process	Regulation of postsynapse organization	IEA
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IDA	11807099

Other IDs

• MIM: 116952
• HGNC: 1736
• e!Ensembl: ENSG00000070831

Protein

• UniProt ID: P60953
• Protein name: Cell division control protein 42 homolog (EC 3.6.5.2) (G25K GTP-binding protein)
• Protein function: Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization pr
• PDB: 1A4R, 1AJE, 1AM4, 1AN0, 1CEE, 1CF4, 1DOA, 1E0A, 1EES, 1GRN, 1GZS, 1KI1, 1KZ7, 1KZG, 1NF3, 2ASE, 2DFK, 2KB0, 2NGR, 2ODB, 2QRZ, 2WM9, 2WMN, 2WMO, 3GCG, 3QBV, 3VHL, 4DID, 4ITR, 4JS0, 4YC7, 4YDH, 5CJP, 5FI1, 5HZK, 5UPK, 5UPL, 6AJ4, 6AJL, 6SIU, 6SUP, 6TKY, 6TKZ, 7S0Y, 8I5F
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00071	Ras	5 → 178	Ras family	Domain

• Sequence:

  MQTIKCVVVGDGAVGKTCLLISYTTNKFPSEYVPTVFDNYAVTVMIGGEPYTLGLFDTAG
  QEDYDRLRPLSYPQTDVFLVCFSVVSPSSFENVKEKWVPEITHHCPKTPFLLVGTQIDLR
  DDPSTIEKLAKNKQKPITPETAEKLARDLKAVKYVECSALTQKGLKNVFDEAILAALEPP
  EPKKSRRCVLL

• Sequence length: 191

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 facial shape	Pathogenic; Likely pathogenic	rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539	RCV001291420 RCV001291422 RCV001291421 RCV001291419 RCV001291424 RCV001291423 RCV001291425 RCV001291426 RCV001291162	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormality of blood and blood-forming tissues	Pathogenic; Likely pathogenic	rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539	RCV001291420 RCV001291422 RCV001291421 RCV001291419 RCV001291424 RCV001291423 RCV001291425 RCV001291426 RCV001291162	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormality of the immune system	Pathogenic; Likely pathogenic	rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539	RCV001291420 RCV001291422 RCV001291421 RCV001291419 RCV001291424 RCV001291423 RCV001291425 RCV001291426 RCV001291162	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CDC42-associated inflammatory disease	Pathogenic	rs2522255954	RCV005417362	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CDC42-related disorder	Pathogenic; Likely pathogenic	rs797044916, rs2522255949	RCV004739574 RCV003335877	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hemophagocytic lymphohistiocytosis	Pathogenic	rs2522255954	RCV006249826	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	Pathogenic; Likely pathogenic	rs797044916, rs797044870, rs864309721, rs1645663483, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196539, rs1570024112	RCV002509288 RCV000601199 RCV000203307 RCV003458288 RCV000601771 RCV000604971 RCV001332038 RCV000611080 RCV000607619 RCV000824997	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental abnormality	Pathogenic; Likely pathogenic	rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539	RCV001291420 RCV001291422 RCV001291421 RCV001291419 RCV001291424 RCV001291423 RCV001291425 RCV001291426 RCV001291162	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Pathogenic	rs797044916	RCV001374925	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan-like syndrome	Pathogenic	rs1553196539	RCV000577848	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postnatal growth retardation	Pathogenic; Likely pathogenic	rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539	RCV001291420 RCV001291422 RCV001291421 RCV001291419 RCV001291424 RCV001291423 RCV001291425 RCV001291426 RCV001291162	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE INFERTILITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aarskog syndrome	Aarskog Syndrome	BEFREE	11181572		★☆☆☆☆ Found in Text Mining only
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	BEFREE	21820096		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	21943101		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	18575765		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	23921961		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	28759015		★☆☆☆☆ Found in Text Mining only
Adrenal Cancer	Adrenal Cancer	CTD_human_DG	24747643		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	CTD_human_DG	24747643		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	26911374		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	29016860		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27289231, 29853638, 30243721		★☆☆☆☆ Found in Text Mining only
Anophthalmos with limb anomalies	Anophthalmia	Pubtator	21565291	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	25057989		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	31484924		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27498552	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	23174138	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28479334, 29906467, 30307073		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	28479334, 36194662	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	24333506		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25057989		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	35003319	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	35104386, 35527674, 36952639	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	11839748		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17705801		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	GENOMICS_ENGLAND_DG	29394990		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14583477, 16280046, 16585176, 17288526, 18435854, 19366686, 20595387, 24074261, 25160664, 26949125, 27863394, 28135249, 28344327, 28423712, 28451966, 29024936, 29169987, 29971782, 29994716, 30104240, 30194396, 30754684		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17356711, 17538024, 23420497, 23975422, 25273174, 29971782, 30420728, 35087170, 36077333, 37511111	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28423712, 29994716	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22589722, 25208761, 27100492, 28035419, 28282856, 32231661	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	16316942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	21208644, 21944080, 24747643		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23894465, 25472720, 30543848, 33380242, 35340237	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28282856	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17705801		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22266952, 28068967, 28871124		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26391404, 30795761, 32901852	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32376602	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23521319	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28204826	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22610942, 26336992, 31011626, 31262449		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28498918		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	16505200		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	23696594	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	23696594		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	25394485, 28859048, 30724771		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	25394485, 30724771		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	17564972, 25676889		★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	15901767		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31397884		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	34024335	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	34024335	Inhibit	★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	37581646	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29440353		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	35527674	Inhibit	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18575765, 29072916		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21943101, 23144867	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	37365287	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18575765, 20473940, 22543585, 23337504, 24348097, 25113996, 25990418, 27540769, 27769041, 28460460, 30631060, 31262449		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	11768613, 27566402, 27926694		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15309713, 22543585, 23144867, 24817781, 27769041, 31262449, 32139668, 37950620	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18575765		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35735582	Stimulate	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	28028174		★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	BEFREE	29853619		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	17847065		★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28089832		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31886261	Inhibit	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30581272		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	21944080, 28465335		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29314205		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	31410202		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	29394990, 30290153, 30714195		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29394990, 30290153, 37501076	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30621321		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30621321		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33149760	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29654829, 29986926		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	21752957, 23902294	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	10749885, 22056625, 30621321		★☆☆☆☆ Found in Text Mining only
Dyserythropoietic Anemia with Thrombocytopenia	Dyserythropoietic anemia with thrombocytopenia	Pubtator	36952639	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10898977, 11025683, 11149925, 11864373, 12195014, 12478284, 12687501, 12915473, 14561717, 15269155, 15884002, 16949823, 17050694, 17540168, 17918734, 17970806, 18245432, 18511961, 19092927, 19700661, 20633244, 20878268, 21423166, 21515363, 22266952, 23382385, 24059268, 26386261, 7473653, 8103286		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal Dysplasia	BEFREE	15901767		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal dysplasia	BEFREE	15901767		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	21944080, 28171565, 30194396		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	GWASDB_DG	23472165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	GWASCAT_DG	23472165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelioma	Epithelioma	BEFREE	28871124		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	26631033		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	26631033		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	33484472	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24025765, 25400770, 27120794, 32139664, 32901852, 36112883	Associate	★☆☆☆☆ Found in Text Mining only
ESTROGEN RESISTANCE	Estrogen Resistance	BEFREE	17427198		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	28748534		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	29394990, 32231661	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	LHGDN	18565850		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	29377497		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	29377497		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	25676889		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	29376863		★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	31848276		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22399802, 22571869, 23283986, 23563176, 23677714, 24573637		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23677714, 29207169, 39390804	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22399802, 22571869, 23283986, 23563176, 23677714, 24573637		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16773187, 20008733, 21996738, 22571869, 28035419, 28787434		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28035419, 36870986	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26386261, 26708094		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	26986510	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	24762475	Stimulate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	29394990	Associate	★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	24028188		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	20345482	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	33809266	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32303876	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	32231661, 32303876, 34504210	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	29394990	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	33785040	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	32231661	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	23150167		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30621321		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	30425683		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	32231661	Associate	★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	11730811		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21357506, 24762475	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32671953	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	33402146	Inhibit	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28642137		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30581272, 31062617		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	30581272	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	31662747		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	12915445, 28126652, 29925821		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	29394990		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	25113996		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	24041540		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	23696594, 31607868		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	LHGDN	18974134		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	22056625, 26986510		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	16854417	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28778865, 30062418		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28778865		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	16630926		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18937283, 20335658, 23894465, 25445114, 26352279, 28282856, 30127901, 30543848		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18937283		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18245474		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19154401, 26462147, 28204826, 34321041	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	25400770		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34952984	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	32231661, 37581646	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	31601675		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	18974134		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30510251		★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	26386261, 26708094		★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	31657647, 31742346		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	28787434		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	30171198		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11839748, 14583477, 16280046, 16585176, 17288526, 18435854, 19366686, 20595387, 24074261, 25160664, 26949125, 27863394, 28135249, 28344327, 28423712, 28451966, 29024936, 29169987, 29971782, 29994716, 30104240, 30194396, 30754684		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	26631033		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	23521319		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22266952, 28068967, 28871124		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22610942, 26336992, 31011626, 31262449		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25977335, 28181096, 28571533, 29853638, 30243721		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17494760, 28707808, 30849276		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25152372, 27033455, 29587866, 30376837		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17705801		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15190208, 17971488, 18937283, 20473940, 21186079, 22266952, 22595609, 22610942, 22719838, 23148235, 23337504, 25152372, 25394485, 26339654, 26458489, 26462147, 26911374, 28035419, 28282856, 28450422, 28859048, 29382705, 29596304, 29858187, 29994716, 30621321, 30714195, 30849276, 31477271		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	25394485, 30724771		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18575765, 29072916		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11768613, 24074261, 25160664		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16880514		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10587647, 25505176, 27347659, 27802184, 29858187		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10587647	Stimulate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	12482591, 18835169, 27347659, 30582770, 37114375, 38008393	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18835169		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	27347659	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	12915445		★☆☆☆☆ Found in Text Mining only
Mesenteric vascular insufficiency	Mesenteric Vascular Insufficiency	BEFREE	28031329		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	29845703	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	26004609	Inhibit	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26004609		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	37501076	Associate	★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Microvillus Inclusion Disease	BEFREE	26526116		★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Microvillus inclusion disease	Pubtator	26526116	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10898977, 11025683, 11149925, 11864373, 12195014, 12478284, 12687501, 12915473, 14561717, 15269155, 15884002, 16949823, 17050694, 17540168, 17918734, 17970806, 18245432, 18511961, 19092927, 19700661, 20633244, 20878268, 21423166, 21515363, 22266952, 23382385, 24059268, 26386261, 7473653, 8103286		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	31632904		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	19718053		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28498918		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35537778	Stimulate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	29382705		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	30667325	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	22589722, 24613926, 30106159, 31452257		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	22589722	Associate	★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	19430526	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	15833843, 17971488, 18575765, 18758480, 19162367, 20383201, 20473940, 21186079, 21685891, 22719838, 23070684, 23073905, 23337504, 23606532, 25032689, 25152372, 25379703, 25400770, 25977335, 26336992, 28012398, 28035419, 28181096, 28393193, 28460460, 28521487, 28871124, 29596304, 29673588, 29853638, 30544828, 30849276		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	26986510	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	15350548, 28860601	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15833843, 17611083, 25264923, 28860601, 29197552		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25264923	Stimulate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	20061625, 28642137		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	16540233		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	15000491, 16540233		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	17564972, 25676889		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	16630926		★☆☆☆☆ Found in Text Mining only
Neutropenia, Severe Congenital, X-Linked	Neutropenia	BEFREE	23868979		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	26845596		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19162367, 25432132, 25945695, 26462147, 27411490, 28521487		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	29394990, 29734338		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	29394990	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28479334		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28479334, 36194662	Associate	★☆☆☆☆ Found in Text Mining only
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	31886203	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28289332		★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian cysts	Pubtator	16854417	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	16854417	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	22610942, 26336992, 31011626, 31262449		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22610942, 26071482, 31262449	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25977335, 28181096, 28571533, 29853638, 30243721		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23426533, 27145964, 29853638, 32232899, 34782370	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	27100492	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	Pubtator	33672558	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22135858		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	22135858	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	26911374		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	20061625		★☆☆☆☆ Found in Text Mining only
Plexiform leiomyoma	Plexiform leiomyoma	GWASCAT_DG	30194396, 31249589		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	29016860		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17494760, 28707808		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	26986510	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	33416099	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36221429	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	17611083		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23521319		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	11973651		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17611083, 2575080, 27498552		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	BEFREE	19432938		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16402129, 20385374, 22385474, 25981171, 27365300		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16402129, 20385374, 22385474, 23747234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30290153	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	32265901	Associate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	35104386	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21603851		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24025765, 25400770, 28393193		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25405202	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	25270024		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	30179222		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25152372, 27033455, 29587866, 30376837		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	36356476	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32679742, 34650666, 36064550, 36356476, 36631800, 36792578, 38336288	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	23696594	Inhibit	★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	29498567		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	17133606		★☆☆☆☆ Found in Text Mining only
TAKENOUCHI-KOSAKI SYNDROME	TAKENOUCHI-KOSAKI SYNDROME	ORPHANET_DG	26386261, 26708094		★☆☆☆☆ Found in Text Mining only
TAKENOUCHI-KOSAKI SYNDROME	TAKENOUCHI-KOSAKI SYNDROME	UNIPROT_DG	26386261, 26708094		★☆☆☆☆ Found in Text Mining only
TAKENOUCHI-KOSAKI SYNDROME	TAKENOUCHI-KOSAKI SYNDROME	GENOMICS_ENGLAND_DG	26708094, 29394990		★☆☆☆☆ Found in Text Mining only
TAKENOUCHI-KOSAKI SYNDROME	TAKENOUCHI-KOSAKI SYNDROME	BEFREE	29335451		★☆☆☆☆ Found in Text Mining only
TAKENOUCHI-KOSAKI SYNDROME	TAKENOUCHI-KOSAKI SYNDROME	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
TAKENOUCHI-KOSAKI SYNDROME	TAKENOUCHI-KOSAKI SYNDROME	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	BEFREE	11078892		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	37581646	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia 1	Thrombocytopenia	Pubtator	20130240	Associate	★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	29645059		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	17296934	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	26526116		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric syndrome	Pubtator	26526116	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29042792		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33205415, 35087170, 36077333, 36693952	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	25394485		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30962261, 36929174	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	GWASCAT_DG	30194396, 31249589		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29422044		★☆☆☆☆ Found in Text Mining only
Venous malformation	Venous malformation	BEFREE	29853619		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	15820609		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	LHGDN	15821030		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	8793292		★☆☆☆☆ Found in Text Mining only