SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)

Gene

• Entrez ID: 25939
• Gene name: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
• Gene symbol: SAMHD1
• Synonyms (NCBI Gene): CHBL2, DCIP, HDDC1, MOP-5, SBBI88, hSAMHD1
• Chromosome: 20
• Chromosome location: 20q11.23
• Summary: This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434517	G>A	Pathogenic	Stop gained, coding sequence variant
rs121434518	G>A	Pathogenic	Stop gained, coding sequence variant
rs121434519	G>A	Pathogenic	Stop gained, coding sequence variant
rs121434520	T>G	Pathogenic	Coding sequence variant, missense variant
rs121434521	T>C	Pathogenic	Coding sequence variant, missense variant
rs138603088	A>T	Likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs147240777	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs267607027	G>A,T	Likely-pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs369035155	C>T	Pathogenic	Coding sequence variant, missense variant
rs369587937	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, stop gained
rs387906948	G>A	Pathogenic	Coding sequence variant, missense variant
rs515726139	A>G	Pathogenic	Coding sequence variant, missense variant
rs515726140	T>C	Pathogenic	Coding sequence variant, missense variant
rs515726141	T>C	Pathogenic	Splice acceptor variant
rs515726142	C>A,T	Pathogenic	Splice donor variant
rs515726143	C>A,G	Pathogenic	Splice acceptor variant
rs515726144	GGATAGGATCAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs515726145	C>T	Pathogenic	Coding sequence variant, missense variant
rs515726146	->C	Pathogenic	Frameshift variant, coding sequence variant
rs752442185	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs768019897	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs768409471	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs774964432	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1219206348	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1335417539	G>A	Pathogenic	Stop gained, coding sequence variant
rs1568762986	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600394490	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1601141002	C>T	Likely-pathogenic	Splice donor variant
rs1601144527	->AA	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024909	hsa-miR-215-5p	Microarray	19074876
MIRT026868	hsa-miR-192-5p	Microarray	19074876
MIRT028643	hsa-miR-30a-5p	Proteomics	18668040
MIRT649643	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT649642	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT664751	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT664750	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT664749	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT664748	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT664747	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT649641	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT664746	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649645	hsa-miR-1470	HITS-CLIP	23824327
MIRT649644	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT649643	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT649642	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT235669	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT649641	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT649643	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT649642	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT664751	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT664750	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT664749	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT664748	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT664747	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT649641	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT664746	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649645	hsa-miR-1470	HITS-CLIP	23824327
MIRT649644	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT649643	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT649642	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT235669	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT649641	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT1325669	hsa-miR-1275	CLIP-seq
MIRT1325670	hsa-miR-155	CLIP-seq
MIRT1325671	hsa-miR-1827	CLIP-seq
MIRT1325672	hsa-miR-2114	CLIP-seq
MIRT1325673	hsa-miR-3140-3p	CLIP-seq
MIRT1325674	hsa-miR-3152-5p	CLIP-seq
MIRT1325675	hsa-miR-376a	CLIP-seq
MIRT1325676	hsa-miR-376b	CLIP-seq
MIRT1325677	hsa-miR-4269	CLIP-seq
MIRT1325678	hsa-miR-4438	CLIP-seq
MIRT1325679	hsa-miR-4540	CLIP-seq
MIRT1325680	hsa-miR-4649-3p	CLIP-seq
MIRT1325681	hsa-miR-4656	CLIP-seq
MIRT1325682	hsa-miR-4665-5p	CLIP-seq
MIRT1325683	hsa-miR-4774-3p	CLIP-seq
MIRT1325684	hsa-miR-4794	CLIP-seq
MIRT1325685	hsa-miR-5095	CLIP-seq
MIRT1325686	hsa-miR-548ag	CLIP-seq
MIRT1325687	hsa-miR-548ai	CLIP-seq
MIRT1325688	hsa-miR-890	CLIP-seq
MIRT1325669	hsa-miR-1275	CLIP-seq
MIRT2096591	hsa-miR-127-5p	CLIP-seq
MIRT1325671	hsa-miR-1827	CLIP-seq
MIRT1325672	hsa-miR-2114	CLIP-seq
MIRT2096592	hsa-miR-298	CLIP-seq
MIRT2096593	hsa-miR-3154	CLIP-seq
MIRT2096594	hsa-miR-3646	CLIP-seq
MIRT2096595	hsa-miR-3678-3p	CLIP-seq
MIRT2096596	hsa-miR-4278	CLIP-seq
MIRT2096597	hsa-miR-4419a	CLIP-seq
MIRT2096598	hsa-miR-4459	CLIP-seq
MIRT2096599	hsa-miR-4489	CLIP-seq
MIRT2096600	hsa-miR-4510	CLIP-seq
MIRT1325679	hsa-miR-4540	CLIP-seq
MIRT1325680	hsa-miR-4649-3p	CLIP-seq
MIRT1325681	hsa-miR-4656	CLIP-seq
MIRT1325682	hsa-miR-4665-5p	CLIP-seq
MIRT2096601	hsa-miR-4711-3p	CLIP-seq
MIRT2096602	hsa-miR-4716-3p	CLIP-seq
MIRT2096603	hsa-miR-4722-5p	CLIP-seq
MIRT2096604	hsa-miR-4775	CLIP-seq
MIRT2096605	hsa-miR-4779	CLIP-seq
MIRT2096606	hsa-miR-4786-3p	CLIP-seq
MIRT2096607	hsa-miR-4799-5p	CLIP-seq
MIRT2096608	hsa-miR-511	CLIP-seq
MIRT2096609	hsa-miR-616	CLIP-seq
MIRT1325688	hsa-miR-890	CLIP-seq
MIRT2096610	hsa-miR-940	CLIP-seq
MIRT2321011	hsa-miR-1245b-5p	CLIP-seq
MIRT2321012	hsa-miR-3142	CLIP-seq
MIRT2321013	hsa-miR-320e	CLIP-seq
MIRT2321014	hsa-miR-3925-3p	CLIP-seq
MIRT2321015	hsa-miR-4255	CLIP-seq
MIRT2321016	hsa-miR-4645-5p	CLIP-seq
MIRT2321017	hsa-miR-4673	CLIP-seq
MIRT2321018	hsa-miR-4698	CLIP-seq
MIRT2321019	hsa-miR-4724-5p	CLIP-seq
MIRT1325684	hsa-miR-4794	CLIP-seq
MIRT2321020	hsa-miR-515-5p	CLIP-seq
MIRT2321021	hsa-miR-545	CLIP-seq
MIRT2321022	hsa-miR-548p	CLIP-seq
MIRT2321023	hsa-miR-634	CLIP-seq
MIRT2321024	hsa-miR-766	CLIP-seq
MIRT2394027	hsa-miR-3184	CLIP-seq
MIRT2394028	hsa-miR-3689d	CLIP-seq
MIRT2394029	hsa-miR-423-5p	CLIP-seq
MIRT2394030	hsa-miR-4710	CLIP-seq
MIRT2096601	hsa-miR-4711-3p	CLIP-seq
MIRT2096608	hsa-miR-511	CLIP-seq
MIRT2458800	hsa-miR-1185	CLIP-seq
MIRT2458801	hsa-miR-1322	CLIP-seq
MIRT2458802	hsa-miR-28-5p	CLIP-seq
MIRT2458803	hsa-miR-3139	CLIP-seq
MIRT2458804	hsa-miR-3150b-3p	CLIP-seq
MIRT2458805	hsa-miR-3605-5p	CLIP-seq
MIRT2458806	hsa-miR-3679-5p	CLIP-seq
MIRT2458807	hsa-miR-3921	CLIP-seq
MIRT1325680	hsa-miR-4649-3p	CLIP-seq
MIRT2458808	hsa-miR-4653-5p	CLIP-seq
MIRT2458809	hsa-miR-4689	CLIP-seq
MIRT2458810	hsa-miR-4784	CLIP-seq
MIRT2458811	hsa-miR-708	CLIP-seq
MIRT2466000	hsa-miR-1915	CLIP-seq
MIRT2466001	hsa-miR-4726-3p	CLIP-seq
MIRT2321021	hsa-miR-545	CLIP-seq
MIRT2321022	hsa-miR-548p	CLIP-seq
MIRT2458800	hsa-miR-1185	CLIP-seq
MIRT2616983	hsa-miR-1226	CLIP-seq
MIRT2616984	hsa-miR-1229	CLIP-seq
MIRT2616985	hsa-miR-124	CLIP-seq
MIRT2321011	hsa-miR-1245b-5p	CLIP-seq
MIRT1325669	hsa-miR-1275	CLIP-seq
MIRT2616986	hsa-miR-1285	CLIP-seq
MIRT2458801	hsa-miR-1322	CLIP-seq
MIRT2616987	hsa-miR-150	CLIP-seq
MIRT1325671	hsa-miR-1827	CLIP-seq
MIRT2466000	hsa-miR-1915	CLIP-seq
MIRT2616988	hsa-miR-1972	CLIP-seq
MIRT2616989	hsa-miR-2278	CLIP-seq
MIRT2616990	hsa-miR-2355-5p	CLIP-seq
MIRT2458802	hsa-miR-28-5p	CLIP-seq
MIRT2616991	hsa-miR-3127-5p	CLIP-seq
MIRT2458803	hsa-miR-3139	CLIP-seq
MIRT2321012	hsa-miR-3142	CLIP-seq
MIRT2458804	hsa-miR-3150b-3p	CLIP-seq
MIRT2096593	hsa-miR-3154	CLIP-seq
MIRT2616992	hsa-miR-3174	CLIP-seq
MIRT2616993	hsa-miR-3176	CLIP-seq
MIRT2394027	hsa-miR-3184	CLIP-seq
MIRT2616994	hsa-miR-3187-3p	CLIP-seq
MIRT2616995	hsa-miR-3187-5p	CLIP-seq
MIRT2616996	hsa-miR-34a	CLIP-seq
MIRT2616997	hsa-miR-34c-5p	CLIP-seq
MIRT2458805	hsa-miR-3605-5p	CLIP-seq
MIRT2616998	hsa-miR-3612	CLIP-seq
MIRT2458806	hsa-miR-3679-5p	CLIP-seq
MIRT2394028	hsa-miR-3689d	CLIP-seq
MIRT2616999	hsa-miR-378	CLIP-seq
MIRT2617000	hsa-miR-378b	CLIP-seq
MIRT2617001	hsa-miR-378c	CLIP-seq
MIRT2617002	hsa-miR-378d	CLIP-seq
MIRT2617003	hsa-miR-378e	CLIP-seq
MIRT2617004	hsa-miR-378f	CLIP-seq
MIRT2617005	hsa-miR-378h	CLIP-seq
MIRT2617006	hsa-miR-378i	CLIP-seq
MIRT2458807	hsa-miR-3921	CLIP-seq
MIRT2617007	hsa-miR-3922-3p	CLIP-seq
MIRT2321014	hsa-miR-3925-3p	CLIP-seq
MIRT2617008	hsa-miR-422a	CLIP-seq
MIRT2394029	hsa-miR-423-5p	CLIP-seq
MIRT2321015	hsa-miR-4255	CLIP-seq
MIRT2617009	hsa-miR-4260	CLIP-seq
MIRT2617010	hsa-miR-4267	CLIP-seq
MIRT2096596	hsa-miR-4278	CLIP-seq
MIRT2617011	hsa-miR-4330	CLIP-seq
MIRT2617012	hsa-miR-4435	CLIP-seq
MIRT2617013	hsa-miR-4436b-5p	CLIP-seq
MIRT2617014	hsa-miR-4443	CLIP-seq
MIRT2617015	hsa-miR-4450	CLIP-seq
MIRT2096599	hsa-miR-4489	CLIP-seq
MIRT2617016	hsa-miR-4493	CLIP-seq
MIRT2617017	hsa-miR-449a	CLIP-seq
MIRT2617018	hsa-miR-449b	CLIP-seq
MIRT2617019	hsa-miR-4505	CLIP-seq
MIRT2617020	hsa-miR-4525	CLIP-seq
MIRT2617021	hsa-miR-4529-5p	CLIP-seq
MIRT2617022	hsa-miR-4638-3p	CLIP-seq
MIRT2321016	hsa-miR-4645-5p	CLIP-seq
MIRT1325680	hsa-miR-4649-3p	CLIP-seq
MIRT2617023	hsa-miR-4650-5p	CLIP-seq
MIRT2458808	hsa-miR-4653-5p	CLIP-seq
MIRT2617024	hsa-miR-4655-5p	CLIP-seq
MIRT1325681	hsa-miR-4656	CLIP-seq
MIRT2617025	hsa-miR-4661-3p	CLIP-seq
MIRT1325682	hsa-miR-4665-5p	CLIP-seq
MIRT2321017	hsa-miR-4673	CLIP-seq
MIRT2617026	hsa-miR-4679	CLIP-seq
MIRT2617027	hsa-miR-4685-5p	CLIP-seq
MIRT2458809	hsa-miR-4689	CLIP-seq
MIRT2394030	hsa-miR-4710	CLIP-seq
MIRT2096601	hsa-miR-4711-3p	CLIP-seq
MIRT2617028	hsa-miR-4713-5p	CLIP-seq
MIRT2096602	hsa-miR-4716-3p	CLIP-seq
MIRT2617029	hsa-miR-4717-5p	CLIP-seq
MIRT2617030	hsa-miR-4723-5p	CLIP-seq
MIRT2466001	hsa-miR-4726-3p	CLIP-seq
MIRT2617031	hsa-miR-4733-3p	CLIP-seq
MIRT2617032	hsa-miR-4747-5p	CLIP-seq
MIRT2617033	hsa-miR-4757-5p	CLIP-seq
MIRT2458810	hsa-miR-4784	CLIP-seq
MIRT1325684	hsa-miR-4794	CLIP-seq
MIRT2617034	hsa-miR-4798-3p	CLIP-seq
MIRT2617035	hsa-miR-483-3p	CLIP-seq
MIRT2617036	hsa-miR-496	CLIP-seq
MIRT2617037	hsa-miR-506	CLIP-seq
MIRT2096608	hsa-miR-511	CLIP-seq
MIRT2321020	hsa-miR-515-5p	CLIP-seq
MIRT2617038	hsa-miR-516b	CLIP-seq
MIRT2617039	hsa-miR-532-3p	CLIP-seq
MIRT2321021	hsa-miR-545	CLIP-seq
MIRT2617040	hsa-miR-548an	CLIP-seq
MIRT2321022	hsa-miR-548p	CLIP-seq
MIRT2617041	hsa-miR-612	CLIP-seq
MIRT2617042	hsa-miR-625	CLIP-seq
MIRT2321023	hsa-miR-634	CLIP-seq
MIRT2617043	hsa-miR-650	CLIP-seq
MIRT2617044	hsa-miR-665	CLIP-seq
MIRT2617045	hsa-miR-668	CLIP-seq
MIRT2458811	hsa-miR-708	CLIP-seq
MIRT2321024	hsa-miR-766	CLIP-seq
MIRT2617046	hsa-miR-941	CLIP-seq
MIRT2458800	hsa-miR-1185	CLIP-seq
MIRT2616983	hsa-miR-1226	CLIP-seq
MIRT2616984	hsa-miR-1229	CLIP-seq
MIRT2616985	hsa-miR-124	CLIP-seq
MIRT2321011	hsa-miR-1245b-5p	CLIP-seq
MIRT1325669	hsa-miR-1275	CLIP-seq
MIRT2616986	hsa-miR-1285	CLIP-seq
MIRT2458801	hsa-miR-1322	CLIP-seq
MIRT2616987	hsa-miR-150	CLIP-seq
MIRT2466000	hsa-miR-1915	CLIP-seq
MIRT2616988	hsa-miR-1972	CLIP-seq
MIRT1325672	hsa-miR-2114	CLIP-seq
MIRT2616989	hsa-miR-2278	CLIP-seq
MIRT2616990	hsa-miR-2355-5p	CLIP-seq
MIRT2458802	hsa-miR-28-5p	CLIP-seq
MIRT2616991	hsa-miR-3127-5p	CLIP-seq
MIRT2458803	hsa-miR-3139	CLIP-seq
MIRT2321012	hsa-miR-3142	CLIP-seq
MIRT2458804	hsa-miR-3150b-3p	CLIP-seq
MIRT2096593	hsa-miR-3154	CLIP-seq
MIRT2616992	hsa-miR-3174	CLIP-seq
MIRT2616993	hsa-miR-3176	CLIP-seq
MIRT2394027	hsa-miR-3184	CLIP-seq
MIRT2616994	hsa-miR-3187-3p	CLIP-seq
MIRT2616995	hsa-miR-3187-5p	CLIP-seq
MIRT2616996	hsa-miR-34a	CLIP-seq
MIRT2616997	hsa-miR-34c-5p	CLIP-seq
MIRT2458805	hsa-miR-3605-5p	CLIP-seq
MIRT2616998	hsa-miR-3612	CLIP-seq
MIRT2458806	hsa-miR-3679-5p	CLIP-seq
MIRT2394028	hsa-miR-3689d	CLIP-seq
MIRT2616999	hsa-miR-378	CLIP-seq
MIRT2617000	hsa-miR-378b	CLIP-seq
MIRT2617001	hsa-miR-378c	CLIP-seq
MIRT2617002	hsa-miR-378d	CLIP-seq
MIRT2617003	hsa-miR-378e	CLIP-seq
MIRT2617004	hsa-miR-378f	CLIP-seq
MIRT2617005	hsa-miR-378h	CLIP-seq
MIRT2617006	hsa-miR-378i	CLIP-seq
MIRT2458807	hsa-miR-3921	CLIP-seq
MIRT2617007	hsa-miR-3922-3p	CLIP-seq
MIRT2321014	hsa-miR-3925-3p	CLIP-seq
MIRT2617008	hsa-miR-422a	CLIP-seq
MIRT2394029	hsa-miR-423-5p	CLIP-seq
MIRT2321015	hsa-miR-4255	CLIP-seq
MIRT2617009	hsa-miR-4260	CLIP-seq
MIRT2617010	hsa-miR-4267	CLIP-seq
MIRT2096596	hsa-miR-4278	CLIP-seq
MIRT2617011	hsa-miR-4330	CLIP-seq
MIRT2617012	hsa-miR-4435	CLIP-seq
MIRT2617013	hsa-miR-4436b-5p	CLIP-seq
MIRT2617014	hsa-miR-4443	CLIP-seq
MIRT2617015	hsa-miR-4450	CLIP-seq
MIRT2096599	hsa-miR-4489	CLIP-seq
MIRT2617016	hsa-miR-4493	CLIP-seq
MIRT2617017	hsa-miR-449a	CLIP-seq
MIRT2617018	hsa-miR-449b	CLIP-seq
MIRT2617019	hsa-miR-4505	CLIP-seq
MIRT2617020	hsa-miR-4525	CLIP-seq
MIRT2617021	hsa-miR-4529-5p	CLIP-seq
MIRT1325679	hsa-miR-4540	CLIP-seq
MIRT2617022	hsa-miR-4638-3p	CLIP-seq
MIRT2321016	hsa-miR-4645-5p	CLIP-seq
MIRT1325680	hsa-miR-4649-3p	CLIP-seq
MIRT2617023	hsa-miR-4650-5p	CLIP-seq
MIRT2458808	hsa-miR-4653-5p	CLIP-seq
MIRT2617024	hsa-miR-4655-5p	CLIP-seq
MIRT2617025	hsa-miR-4661-3p	CLIP-seq
MIRT1325682	hsa-miR-4665-5p	CLIP-seq
MIRT2321017	hsa-miR-4673	CLIP-seq
MIRT2617026	hsa-miR-4679	CLIP-seq
MIRT2617027	hsa-miR-4685-5p	CLIP-seq
MIRT2458809	hsa-miR-4689	CLIP-seq
MIRT2394030	hsa-miR-4710	CLIP-seq
MIRT2096601	hsa-miR-4711-3p	CLIP-seq
MIRT2617028	hsa-miR-4713-5p	CLIP-seq
MIRT2096602	hsa-miR-4716-3p	CLIP-seq
MIRT2617029	hsa-miR-4717-5p	CLIP-seq
MIRT2617030	hsa-miR-4723-5p	CLIP-seq
MIRT2466001	hsa-miR-4726-3p	CLIP-seq
MIRT2617031	hsa-miR-4733-3p	CLIP-seq
MIRT2617032	hsa-miR-4747-5p	CLIP-seq
MIRT2617033	hsa-miR-4757-5p	CLIP-seq
MIRT2458810	hsa-miR-4784	CLIP-seq
MIRT1325684	hsa-miR-4794	CLIP-seq
MIRT2617034	hsa-miR-4798-3p	CLIP-seq
MIRT2617035	hsa-miR-483-3p	CLIP-seq
MIRT2617036	hsa-miR-496	CLIP-seq
MIRT2617037	hsa-miR-506	CLIP-seq
MIRT2096608	hsa-miR-511	CLIP-seq
MIRT2321020	hsa-miR-515-5p	CLIP-seq
MIRT2617038	hsa-miR-516b	CLIP-seq
MIRT2617039	hsa-miR-532-3p	CLIP-seq
MIRT2321021	hsa-miR-545	CLIP-seq
MIRT2617040	hsa-miR-548an	CLIP-seq
MIRT2321022	hsa-miR-548p	CLIP-seq
MIRT2617041	hsa-miR-612	CLIP-seq
MIRT2617042	hsa-miR-625	CLIP-seq
MIRT2321023	hsa-miR-634	CLIP-seq
MIRT2617043	hsa-miR-650	CLIP-seq
MIRT2617044	hsa-miR-665	CLIP-seq
MIRT2617045	hsa-miR-668	CLIP-seq
MIRT2458811	hsa-miR-708	CLIP-seq
MIRT2321024	hsa-miR-766	CLIP-seq
MIRT2617046	hsa-miR-941	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	28834754, 29670289
GO:0002376	Process	Immune system process	IEA
GO:0003676	Function	Nucleic acid binding	IDA	22461318
GO:0003697	Function	Single-stranded DNA binding	IDA	29670289
GO:0003723	Function	RNA binding	IDA	22461318
GO:0003824	Function	Catalytic activity	IEA
GO:0004540	Function	RNA nuclease activity	IDA	29670289
GO:0004540	Function	RNA nuclease activity	IDA	25038827
GO:0005515	Function	Protein binding	IPI	21903422, 23601106, 28834754, 28871089, 29670289, 30833792
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19525956
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006203	Process	DGTP catabolic process	IBA
GO:0006203	Process	DGTP catabolic process	IDA	24217394
GO:0006260	Process	DNA replication	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006955	Process	Immune response	NAS	11064105
GO:0006974	Process	DNA damage response	IDA	28834754, 29670289
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IDA	24217394
GO:0008832	Function	DGTPase activity	IBA
GO:0008832	Function	DGTPase activity	IDA	23601106, 24217394, 26294762
GO:0008832	Function	DGTPase activity	IEA
GO:0009264	Process	Deoxyribonucleotide catabolic process	IDA	23601106, 26294762
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IEA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016793	Function	Triphosphoric monoester hydrolase activity	IEA
GO:0032567	Function	DGTP binding	IDA	24141705
GO:0035861	Component	Site of double-strand break	IDA	28834754, 29670289
GO:0042802	Function	Identical protein binding	IPI	22056990, 24141705
GO:0045087	Process	Innate immune response	IEA
GO:0045088	Process	Regulation of innate immune response	IBA
GO:0045088	Process	Regulation of innate immune response	IDA	29670289
GO:0045088	Process	Regulation of innate immune response	IMP	19525956
GO:0046061	Process	DATP catabolic process	IDA	24141705
GO:0046061	Process	DATP catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051289	Process	Protein homotetramerization	IDA	23601106, 24217394, 26294762
GO:0051289	Process	Protein homotetramerization	IEA
GO:0051607	Process	Defense response to virus	IBA
GO:0051607	Process	Defense response to virus	IDA	23601106, 26294762
GO:0051607	Process	Defense response to virus	IEA
GO:0051607	Process	Defense response to virus	IMP	19525956
GO:0060339	Process	Negative regulation of type I interferon-mediated signaling pathway	IDA	29670289
GO:0060339	Process	Negative regulation of type I interferon-mediated signaling pathway	IEA
GO:0097197	Component	Tetraspanin-enriched microdomain	IDA	28871089
GO:0106375	Function	Deoxynucleoside triphosphate hydrolase activity	IDA	23601106, 26294762
GO:0106375	Function	Deoxynucleoside triphosphate hydrolase activity	IEA
GO:0110025	Process	DNA strand resection involved in replication fork processing	IDA	28834754, 29670289

Other IDs

• MIM: 606754
• HGNC: 15925
• e!Ensembl: ENSG00000101347

Protein

• UniProt ID: Q9Y3Z3
• Protein name: Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 (dNTPase) (EC 3.1.5.-) (Dendritic cell-derived IFNG-induced protein) (DCIP) (Monocyte protein 5) (MOP-5) (SAM domain and HD domain-containing protein 1) (hSAMHD1)
• Protein function: Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks (PubMed:19525956, PubMed:21613998, PubMed:21720370, PubMed:22056990, PubMed:23601106,
• PDB: 2E8O, 3U1N, 4BZB, 4BZC, 4CC9, 4MZ7, 4Q7H, 4QFX, 4QFY, 4QFZ, 4QG0, 4QG1, 4QG2, 4QG4, 4RXO, 4RXP, 4RXQ, 4RXR, 4RXS, 4TNP, 4TNQ, 4TNR, 4TNX, 4TNY, 4TNZ, 4TO0, 4TO1, 4TO2, 4TO3, 4TO4, 4TO5, 4TO6, 4ZWE, 4ZWG, 5AO0, 5AO1, 5AO2, 5AO3, 5AO4, 6CM2, 6DW3, 6DW4, 6DW5, 6DW7, 6DWD, 6DWJ, 6DWK, 6TX0, 6TXA, 6TXC, 6TXE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07647	SAM_2	42 → 108	SAM domain (Sterile alpha motif)	Domain
  PF01966	HD	164 → 319	HD domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in heart, skeletal muscle, spleen, liver, small intestine, placenta, lung and peripheral blood leukocytes (PubMed:11064105). No expression is seen in brain and thymus (PubMed:11064105). {ECO:0000269|PubMed:11064105}.
• Sequence:

  MQRADSEQPSKRPRCDDSPRTPSNTPSAEADWSPGLELHPDYKTWGPEQVCSFLRRGGFE
  EPVLLKNIRENEITGALLPCLDESRFENLGVSSLGERKKLLSYIQRLVQIHVDTMKVIND
  PIHGHIELHPLLVRIIDTPQFQRLRYIKQLGGGYYVFPGASHNRFEHSLGVGYLAGCLVH
  ALGEKQPELQISERDVLCVQIAGLCHDLGHGPFSHMFDGRFIPLARPEVKWTHEQGSVMM
  FEHLINSNGIKPVMEQYGLIPEEDICFIKEQIVGPLESPVEDSLWPYKGRPENKSFLYEI
  VSNKRNGIDVDKWDYFARDCHHLGIQNNFDYKRFIKFARVCEVDNELRICARDKEVGNLY
  DMFHTRNSLHRRAYQHKVGNIIDTMITDAFLKADDYIEITGAGGKKYRISTAIDDMEAYT
  KLTDNIFLEILYSTDPKLKDAREILKQIEYRNLFKYVGETQPTGQIKIKREDYESLPKEV
  ASAKPKVLLDVKLKAEDFIVDVINMDYGMQEKNPIDHVSFYCKTAPNRAIRITKNQVSQL
  LPEKFAEQLIRVYCKKVDRKSLYAARQYFVQWCADRNFTKPQDGDVIAPLITPQKKEWND
  STSVQNPTRLREASKSRVQLFKDDPM

• Sequence length: 626

Pathways

KEGG:

Viral life cycle - HIV-1
Cytosolic DNA-sensing pathway
Human immunodeficiency virus 1 infection

Reactome:

Nucleobase catabolism
Interferon alpha/beta signaling

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
Aicardi Goutieres syndrome	Likely pathogenic; Pathogenic	rs1192315307, rs2148355967, rs773852483, rs121434517, rs267607027, rs559553527, rs2515229076, rs138603088, rs774964432, rs768409471, rs149846637	RCV001831349 RCV005607044 RCV002282901 RCV001826413 RCV001831512 RCV003226811 RCV003226812 RCV000825545 RCV003323661 RCV001830789 RCV002509198	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aicardi-Goutieres syndrome 5	Likely pathogenic; Pathogenic	rs1990238054, rs515726143, rs2146117027, rs1192315307, rs1601113209, rs2148359769, rs2148360598, rs2063399418, rs1328663348, rs759706198, rs139804668, rs369587937, rs515726141, rs369035155, rs515726146, rs373731440, rs779028596, rs1700306908, rs747918559, rs780504624, rs2146127849, rs2146137671, rs2063541685, rs2148355967, rs2146160649, rs1251155562, rs2148365710, rs2146119643, rs2146160463, rs750807433, rs2063392759, rs752942007, rs2148359722, rs2063594580, rs752962934, rs2146131738, rs2146116814, rs2146127824, rs773852483, rs2515244334, rs121434516, rs121434517, rs267607027, rs121434518, rs121434519, rs121434520, rs1410153662, rs2515237951, rs2515227348, rs2515264339, rs2515229165, rs1473874262, rs754917229, rs2515218976, rs1336571464, rs2515219215, rs1641554114, rs2515236164, rs1794524337, rs2515264387, rs2515244359, rs2515219038, rs2515236180, rs2515228923, rs2515236275, rs775651203, rs2515244156, rs2515247402, rs772935302, rs1341219224, rs374561117, rs2515236292, rs2515254153, rs764423616, rs2515217684, rs2515264064, rs1180941945, rs1656506214, rs2515244609, rs756338119, rs2515272357, rs1257890707, rs2515244774, rs2515236081, rs2515286349, rs387906948, rs138603088, rs774964432, rs1568762986, rs1303667371, rs768409471, rs1219206348, rs1335417539, rs1601144527, rs752442185, rs768019897, rs1601141002, rs769561543, rs2063480012, rs1300333132, rs1442728513, rs149846637, rs2063446897, rs2063478568, rs2063734182	RCV001324379 RCV001334862 RCV001378132 RCV001378011 RCV001384083 RCV001381077 RCV001383684 RCV001389856 RCV001384991 RCV001387841 RCV001389810 RCV000114347 RCV000114348 RCV000114352 RCV000114354 RCV002008088 RCV001897829 RCV001985834 RCV001948050 RCV001976447 RCV002013399 RCV001976673 RCV002000228 RCV001942134 RCV001942237 RCV001995733 RCV001943029 RCV001990395 RCV001915500 RCV002037938 RCV001972486 RCV001942326 RCV001942341 RCV001872377 RCV001951300 RCV001959037 RCV001963130 RCV001920261 RCV003502616 RCV003041386 RCV000004281 RCV000004282 RCV000004284 RCV000004285 RCV000004286 RCV000004287 RCV002663454 RCV002856939 RCV002875869 RCV002889278 RCV002914469 RCV002914843 RCV002942877 RCV002928779 RCV003021567 RCV003021649 RCV003043708 RCV003053578 RCV003044059 RCV005099800 RCV003225620 RCV003502795 RCV003503754 RCV003502285 RCV003503054 RCV003503046 RCV003503121 RCV003503209 RCV003503997 RCV003609306 RCV003609556 RCV003610141 RCV003610377 RCV003608672 RCV003608734 RCV003608848 RCV003608987 RCV003609056 RCV003609021 RCV003610505 RCV003821001 RCV003820382 RCV003839493 RCV003855638 RCV003866958 RCV003867172 RCV000023577 RCV000023578 RCV001242221 RCV000705432 RCV000723336 RCV000816971 RCV000791952 RCV000816561 RCV000791724 RCV000799060 RCV000985137 RCV000985138 RCV001051042 RCV001042421 RCV001067942 RCV001064679 RCV001389675 RCV001217916 RCV001213659 RCV001245426	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral palsy	Pathogenic	rs1684124082	RCV001293275	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chilblain lupus 2	Likely pathogenic; Pathogenic	rs139804668, rs515726141, rs2146127849, rs750807433, rs773852483, rs121434517, rs267607027, rs121434519, rs2515244609, rs138603088, rs774964432, rs768409471, rs1335417539, rs752442185, rs768019897, rs1300333132	RCV002499817 RCV005031599 RCV005025623 RCV005025518 RCV005025761 RCV002476923 RCV005025003 RCV005031386 RCV005030194 RCV000023579 RCV005034227 RCV002495159 RCV002478901 RCV005029464 RCV005029544 RCV005029660	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Likely pathogenic	rs1990238054, rs764423616	RCV005911047 RCV005934640	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple myeloma	Likely pathogenic	rs1600394490	RCV000984113	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SAMHD1-related disorder	Pathogenic; Likely pathogenic	rs515726141, rs2515258417, rs2515286035	RCV004739368 RCV003335964 RCV004552452	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AICARDI-GOUTIERES SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILBLAIN LUPUS 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILBLAIN LUPUS ERYTHEMATOSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEOXYGUANOSINE KINASE DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CHILBLAIN LUPUS	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CHILBLAIN LUPUS ERYTHEMATOSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS C	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAMHD1-RELATED TYPE 1 INTERFERONOPATHY	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	31375673		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25449277		★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	19525956, 20131292, 20653736, 20842748, 21102625, 21613998, 22174685, 22530776, 22972397, 23092122, 23364794, 23592335, 24035396, 24183309, 24335234, 24445253, 24989684, 25038827, 25278816, 25604658, 25769924, 26182405, 26294762, 28229507, 28834754, 29959219, 30099227, 31559893, 31874111, 32511795, 32576829, 33445189, 33482855, 33857133, 35085552, 36150385, 37213666, 38041217, 38368708, 39871364	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aicardi Syndrome	Aicardi syndrome	Pubtator	40442339	Associate	★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	19525956, 20131292, 20358604, 20653736, 20842748, 21102625, 21613998, 21670392, 22000008, 22069334, 22174685, 22461318, 22530776, 22953710, 22972397, 23364794, 23371319, 23744109, 24035396, 24161438, 24183309, 24335234, 24445253, 24989684, 25038827, 25246298, 25423367, 25672750, 26182405, 28228523, 28229507, 28502830, 28834754, 29311560, 29670289, 29959219, 30099227, 30898416, 31130681, 31296733		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	CLINVAR_DG	19525956, 20653736, 21204240, 22461318, 27604406, 28229507, 30275001		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	ORPHANET_DG	19525956, 20842748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	GENOMICS_ENGLAND_DG	19525956, 25604658, 25655951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
	Aicardi Goutieres Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	CTD_human_DG	23364794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME 1	Aicardi Goutieres Syndrome	CTD_human_DG	23364794		★☆☆☆☆ Found in Text Mining only
Aicardi-Goutieres Syndrome 2	Aicardi Goutieres Syndrome	CTD_human_DG	23364794		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME 5 (disorder)	Aicardi Goutieres Syndrome	CTD_human_DG	19525956		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME 5 (disorder)	Aicardi Goutieres Syndrome	UNIPROT_DG	19525956, 20131292, 20842748, 24035396, 24183309, 28229507, 29670289		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME 5 (disorder)	Aicardi Goutieres Syndrome	CLINVAR_DG	19525956, 20358604, 20653736, 20842748, 21204240, 22174685, 22461318, 22973040, 25604658, 27604406, 28229507		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME 5 (disorder)	Aicardi Goutieres Syndrome	GENOMICS_ENGLAND_DG	19525956, 20842748, 21102625, 24357685, 25604658, 30275001		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	25010268		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	20653736	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	21402907	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	20358604		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	26504826	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22174685, 22461318, 23371319, 24300241, 24335234, 24445253, 26439297, 26957197, 27909056, 29379009, 29583030		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	22174685, 24335234, 27775344, 27909056, 32576829	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	23364794, 24445253	Inhibit	★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	20358604, 29959219		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	21102625		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	21613998, 24989684, 28229507, 36311265	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35023831	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39245738	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29782647	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25449277, 29722257		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37009792	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31516605		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	20653736	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	20653736	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20842748, 21402907, 25672750, 26504826		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	26504826		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	38041217	Associate	★☆☆☆☆ Found in Text Mining only
Chilblain lupus 1	Chilblain Lupus Erythematosus	CTD_human_DG	27566796		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chilblain lupus 1	Chilblain lupus erythematosus	Pubtator	32293470	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILBLAIN LUPUS 2	Chilblain Lupus Erythematosus	GENOMICS_ENGLAND_DG	19525956		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHILBLAIN LUPUS 2	Chilblain Lupus Erythematosus	UNIPROT_DG	21204240		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHILBLAIN LUPUS 2	Chilblain Lupus Erythematosus	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHILBLAIN LUPUS 2	Chilblain Lupus Erythematosus	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chilblains	Chilblain lesions	BEFREE	20653736		★☆☆☆☆ Found in Text Mining only
Chilblains	Chilblain lesions	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	BEFREE	20358604		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24335234, 27060156, 31296733		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Classical Lissencephalies and Subcortical Band Heterotopias	Lissencephaly	Pubtator	26121641	Associate	★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	26337901		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	35666053	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27071091		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27988520		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34492268	Associate	★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
De Lange Syndrome	De lange syndrome	Pubtator	39871364	Associate	★☆☆☆☆ Found in Text Mining only
Degeneration of the striatum	Degeneration of the striatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deoxyguanosine Kinase Deficiency	Deoxyguanosine Kinase Deficiency	CTD_human_DG	26342080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deoxyguanosine Kinase Deficiency	Deoxyguanosine kinase deficiency	Pubtator	26342080	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	29698322		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	21613998, 23371319, 24989684, 28229507		★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	39394602	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	31516605		★☆☆☆☆ Found in Text Mining only
Familial Chilblain lupus	Chilblain Lupus Erythematosus	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma of childhood	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28067901		★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	30273369	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	23364794, 31914403	Associate	★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	25278816	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28935667		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	21402907	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	24324150, 28228523, 28486838, 29911928, 30181218, 30474474		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24335234, 34492268, 35439288	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30474474, 31375673		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30305425, 30341277, 32708452, 35803902, 36689724	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27991919, 28067901, 28436707, 28502830, 29911928, 30305425, 30341277, 30474474, 31375673, 31434075		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26808085, 29782647		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	26808085		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	25449277		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24445253, 37213666	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21670392, 23371319, 23622384, 24445253		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	37213666	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	27889686, 27929746		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24317272		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25449277, 29722257		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24317272, 26416562, 27991919, 28436707, 28444859, 28502830, 28834754, 28978134, 29583030, 29670289, 30305425, 31492497		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27071091		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	32639949	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	21402907	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	39245738	Stimulate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	GENOMICS_ENGLAND_DG	20653736		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya Disease	Moyamoya disease	Pubtator	20653736, 38041217, 40442339	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis	Myositis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25449277, 27071091, 28502830, 29352181, 29911928, 30474474, 31516605		★☆☆☆☆ Found in Text Mining only
Neu-Laxova syndrome	Neu-Laxova Syndrome	BEFREE	30739781		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30275001, 35666053, 36115319	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Neuropathy Ischemic	Optic neuropathy	Pubtator	40442339	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	39261734	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36845138	Associate	★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pseudo-TORCH syndrome	Pseudo-TORCH Syndrome	CTD_human_DG	23364794		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	38368708	Associate	★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	30273369		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	27889686	Inhibit	★☆☆☆☆ Found in Text Mining only
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities(SAMS)	BEFREE	28289923		★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Splenic Neoplasms	Splenic neoplasms	Pubtator	35610016	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35670736	Inhibit	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	20842748, 21402907, 26504826	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Prolymphocytic Leukemia	T-Cell Prolymphocytic Leukemia	BEFREE	29352181		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	20653736, 21402907, 28289923		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	20842748	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vasculopathy Retinal With Cerebral Leukodystrophy	Retinal vasculopathy with cerebral leukodystrophy	Pubtator	20653736, 21402907	Associate	★☆☆☆☆ Found in Text Mining only
Visceral myopathy familial external ophthalmoplegia	Visceral neuropathy	Pubtator	26342080, 35023831	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	24989684		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	24989684	Associate	★☆☆☆☆ Found in Text Mining only