UNG (uracil DNA glycosylase)

Gene

• Entrez ID: 7374
• Gene name: Uracil DNA glycosylase
• Gene symbol: UNG
• Synonyms (NCBI Gene): DGU, HIGM4, HIGM5, UDG, UNG1, UNG15, UNG2
• Disease Acronyms (UniProt): HIGM5
• Chromosome: 12
• Chromosome location: 12q24.11
• Summary: This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER)

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894380	T>C	Pathogenic	Coding sequence variant, missense variant
rs772214871	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555264685	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007301	hsa-miR-16-5p	Luciferase reporter assay	23228472
MIRT007302	hsa-miR-34c-5p	Luciferase reporter assay	23228472
MIRT007303	hsa-miR-199a-5p	Luciferase reporter assay	23228472
MIRT024454	hsa-miR-215-5p	Microarray	19074876
MIRT026620	hsa-miR-192-5p	Microarray	19074876
MIRT030474	hsa-miR-24-3p	Microarray	19748357
MIRT049999	hsa-miR-28-5p	CLASH	23622248
MIRT045987	hsa-miR-125b-5p	CLASH	23622248
MIRT038623	hsa-miR-129-2-3p	CLASH	23622248
MIRT270184	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT335132	hsa-miR-3169	HITS-CLIP	21572407
MIRT270188	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT510572	hsa-miR-4686	HITS-CLIP	21572407
MIRT270182	hsa-miR-204-3p	HITS-CLIP	21572407
MIRT270186	hsa-miR-4646-5p	HITS-CLIP	21572407
MIRT062350	hsa-miR-3148	HITS-CLIP	21572407
MIRT270185	hsa-miR-4515	HITS-CLIP	21572407
MIRT270187	hsa-miR-4668-5p	HITS-CLIP	21572407
MIRT510568	hsa-miR-3153	HITS-CLIP	21572407
MIRT510567	hsa-miR-6733-5p	HITS-CLIP	21572407
MIRT510566	hsa-miR-6739-5p	HITS-CLIP	21572407
MIRT270183	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT270184	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT270188	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT510572	hsa-miR-4686	PAR-CLIP	20371350
MIRT510571	hsa-miR-20a-3p	PAR-CLIP	20371350
MIRT270182	hsa-miR-204-3p	PAR-CLIP	20371350
MIRT270186	hsa-miR-4646-5p	PAR-CLIP	20371350
MIRT062349	hsa-miR-1911-5p	PAR-CLIP	20371350
MIRT510569	hsa-miR-6076	PAR-CLIP	20371350
MIRT510570	hsa-miR-6797-3p	PAR-CLIP	20371350
MIRT062350	hsa-miR-3148	PAR-CLIP	20371350
MIRT270187	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT510568	hsa-miR-3153	PAR-CLIP	20371350
MIRT510567	hsa-miR-6733-5p	PAR-CLIP	20371350
MIRT510566	hsa-miR-6739-5p	PAR-CLIP	20371350
MIRT510565	hsa-miR-3682-5p	PAR-CLIP	20371350
MIRT270183	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT270184	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT335132	hsa-miR-3169	PAR-CLIP	21572407
MIRT270188	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT510572	hsa-miR-4686	PAR-CLIP	21572407
MIRT510571	hsa-miR-20a-3p	PAR-CLIP	21572407
MIRT270182	hsa-miR-204-3p	PAR-CLIP	21572407
MIRT270186	hsa-miR-4646-5p	PAR-CLIP	21572407
MIRT062349	hsa-miR-1911-5p	PAR-CLIP	21572407
MIRT510569	hsa-miR-6076	PAR-CLIP	21572407
MIRT510570	hsa-miR-6797-3p	PAR-CLIP	21572407
MIRT062350	hsa-miR-3148	PAR-CLIP	21572407
MIRT270185	hsa-miR-4515	PAR-CLIP	21572407
MIRT270187	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT510568	hsa-miR-3153	PAR-CLIP	21572407
MIRT510567	hsa-miR-6733-5p	PAR-CLIP	21572407
MIRT510566	hsa-miR-6739-5p	PAR-CLIP	21572407
MIRT510565	hsa-miR-3682-5p	PAR-CLIP	21572407
MIRT270183	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT270184	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT335132	hsa-miR-3169	PAR-CLIP	21572407
MIRT270188	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT510572	hsa-miR-4686	PAR-CLIP	21572407
MIRT510571	hsa-miR-20a-3p	PAR-CLIP	21572407
MIRT270182	hsa-miR-204-3p	PAR-CLIP	21572407
MIRT270186	hsa-miR-4646-5p	PAR-CLIP	21572407
MIRT062350	hsa-miR-3148	PAR-CLIP	21572407
MIRT270185	hsa-miR-4515	PAR-CLIP	21572407
MIRT270187	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT510568	hsa-miR-3153	PAR-CLIP	21572407
MIRT510567	hsa-miR-6733-5p	PAR-CLIP	21572407
MIRT510566	hsa-miR-6739-5p	PAR-CLIP	21572407
MIRT270183	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT270184	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT335132	hsa-miR-3169	PAR-CLIP	23446348
MIRT270188	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT510572	hsa-miR-4686	PAR-CLIP	23446348
MIRT510571	hsa-miR-20a-3p	PAR-CLIP	23446348
MIRT270182	hsa-miR-204-3p	PAR-CLIP	23446348
MIRT270186	hsa-miR-4646-5p	PAR-CLIP	23446348
MIRT062349	hsa-miR-1911-5p	PAR-CLIP	23446348
MIRT510569	hsa-miR-6076	PAR-CLIP	23446348
MIRT510570	hsa-miR-6797-3p	PAR-CLIP	23446348
MIRT062350	hsa-miR-3148	PAR-CLIP	23446348
MIRT270185	hsa-miR-4515	PAR-CLIP	23446348
MIRT270187	hsa-miR-4668-5p	PAR-CLIP	23446348
MIRT510568	hsa-miR-3153	PAR-CLIP	23446348
MIRT510567	hsa-miR-6733-5p	PAR-CLIP	23446348
MIRT510566	hsa-miR-6739-5p	PAR-CLIP	23446348
MIRT510565	hsa-miR-3682-5p	PAR-CLIP	23446348
MIRT270183	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT270184	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT335132	hsa-miR-3169	HITS-CLIP	21572407
MIRT270188	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT510572	hsa-miR-4686	HITS-CLIP	21572407
MIRT270182	hsa-miR-204-3p	HITS-CLIP	21572407
MIRT270186	hsa-miR-4646-5p	HITS-CLIP	21572407
MIRT062350	hsa-miR-3148	HITS-CLIP	21572407
MIRT270185	hsa-miR-4515	HITS-CLIP	21572407
MIRT270187	hsa-miR-4668-5p	HITS-CLIP	21572407
MIRT510568	hsa-miR-3153	HITS-CLIP	21572407
MIRT510567	hsa-miR-6733-5p	HITS-CLIP	21572407
MIRT510566	hsa-miR-6739-5p	HITS-CLIP	21572407
MIRT270183	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT270184	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT270188	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT510572	hsa-miR-4686	PAR-CLIP	20371350
MIRT510571	hsa-miR-20a-3p	PAR-CLIP	20371350
MIRT270182	hsa-miR-204-3p	PAR-CLIP	20371350
MIRT270186	hsa-miR-4646-5p	PAR-CLIP	20371350
MIRT062349	hsa-miR-1911-5p	PAR-CLIP	20371350
MIRT510569	hsa-miR-6076	PAR-CLIP	20371350
MIRT510570	hsa-miR-6797-3p	PAR-CLIP	20371350
MIRT062350	hsa-miR-3148	PAR-CLIP	20371350
MIRT270187	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT510568	hsa-miR-3153	PAR-CLIP	20371350
MIRT510567	hsa-miR-6733-5p	PAR-CLIP	20371350
MIRT510566	hsa-miR-6739-5p	PAR-CLIP	20371350
MIRT510565	hsa-miR-3682-5p	PAR-CLIP	20371350
MIRT270183	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT270184	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT335132	hsa-miR-3169	PAR-CLIP	21572407
MIRT270188	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT510572	hsa-miR-4686	PAR-CLIP	21572407
MIRT510571	hsa-miR-20a-3p	PAR-CLIP	21572407
MIRT270182	hsa-miR-204-3p	PAR-CLIP	21572407
MIRT270186	hsa-miR-4646-5p	PAR-CLIP	21572407
MIRT062349	hsa-miR-1911-5p	PAR-CLIP	21572407
MIRT510569	hsa-miR-6076	PAR-CLIP	21572407
MIRT510570	hsa-miR-6797-3p	PAR-CLIP	21572407
MIRT062350	hsa-miR-3148	PAR-CLIP	21572407
MIRT270185	hsa-miR-4515	PAR-CLIP	21572407
MIRT270187	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT510568	hsa-miR-3153	PAR-CLIP	21572407
MIRT510567	hsa-miR-6733-5p	PAR-CLIP	21572407
MIRT510566	hsa-miR-6739-5p	PAR-CLIP	21572407
MIRT510565	hsa-miR-3682-5p	PAR-CLIP	21572407
MIRT270183	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT270184	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT335132	hsa-miR-3169	PAR-CLIP	21572407
MIRT270188	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT510572	hsa-miR-4686	PAR-CLIP	21572407
MIRT510571	hsa-miR-20a-3p	PAR-CLIP	21572407
MIRT270182	hsa-miR-204-3p	PAR-CLIP	21572407
MIRT270186	hsa-miR-4646-5p	PAR-CLIP	21572407
MIRT062350	hsa-miR-3148	PAR-CLIP	21572407
MIRT270185	hsa-miR-4515	PAR-CLIP	21572407
MIRT270187	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT510568	hsa-miR-3153	PAR-CLIP	21572407
MIRT510567	hsa-miR-6733-5p	PAR-CLIP	21572407
MIRT510566	hsa-miR-6739-5p	PAR-CLIP	21572407
MIRT270183	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT270184	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT335132	hsa-miR-3169	PAR-CLIP	23446348
MIRT270188	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT510572	hsa-miR-4686	PAR-CLIP	23446348
MIRT510571	hsa-miR-20a-3p	PAR-CLIP	23446348
MIRT270182	hsa-miR-204-3p	PAR-CLIP	23446348
MIRT270186	hsa-miR-4646-5p	PAR-CLIP	23446348
MIRT062349	hsa-miR-1911-5p	PAR-CLIP	23446348
MIRT510569	hsa-miR-6076	PAR-CLIP	23446348
MIRT510570	hsa-miR-6797-3p	PAR-CLIP	23446348
MIRT062350	hsa-miR-3148	PAR-CLIP	23446348
MIRT270185	hsa-miR-4515	PAR-CLIP	23446348
MIRT270187	hsa-miR-4668-5p	PAR-CLIP	23446348
MIRT510568	hsa-miR-3153	PAR-CLIP	23446348
MIRT510567	hsa-miR-6733-5p	PAR-CLIP	23446348
MIRT510566	hsa-miR-6739-5p	PAR-CLIP	23446348
MIRT510565	hsa-miR-3682-5p	PAR-CLIP	23446348
MIRT270183	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT1475711	hsa-miR-101	CLIP-seq
MIRT1475712	hsa-miR-1261	CLIP-seq
MIRT1475713	hsa-miR-1273g	CLIP-seq
MIRT1475714	hsa-miR-1286	CLIP-seq
MIRT1475715	hsa-miR-1343	CLIP-seq
MIRT1475716	hsa-miR-15a	CLIP-seq
MIRT1475717	hsa-miR-15b	CLIP-seq
MIRT1475718	hsa-miR-16	CLIP-seq
MIRT1475719	hsa-miR-18a	CLIP-seq
MIRT1475720	hsa-miR-18b	CLIP-seq
MIRT1475721	hsa-miR-195	CLIP-seq
MIRT1475722	hsa-miR-214	CLIP-seq
MIRT1475723	hsa-miR-22	CLIP-seq
MIRT1475724	hsa-miR-2392	CLIP-seq
MIRT1475725	hsa-miR-3120-5p	CLIP-seq
MIRT1475726	hsa-miR-3128	CLIP-seq
MIRT1475727	hsa-miR-3144-5p	CLIP-seq
MIRT1475728	hsa-miR-3158-3p	CLIP-seq
MIRT1475729	hsa-miR-3166	CLIP-seq
MIRT1475730	hsa-miR-3182	CLIP-seq
MIRT1475731	hsa-miR-34a	CLIP-seq
MIRT1475732	hsa-miR-3609	CLIP-seq
MIRT1475733	hsa-miR-3619-5p	CLIP-seq
MIRT1475734	hsa-miR-3647-3p	CLIP-seq
MIRT1475735	hsa-miR-3649	CLIP-seq
MIRT1475736	hsa-miR-3654	CLIP-seq
MIRT1475737	hsa-miR-3689d	CLIP-seq
MIRT1475738	hsa-miR-3690	CLIP-seq
MIRT1475739	hsa-miR-371-5p	CLIP-seq
MIRT1475740	hsa-miR-371b-5p	CLIP-seq
MIRT1475741	hsa-miR-424	CLIP-seq
MIRT1475742	hsa-miR-4254	CLIP-seq
MIRT1475743	hsa-miR-4263	CLIP-seq
MIRT1475744	hsa-miR-4276	CLIP-seq
MIRT1475745	hsa-miR-4282	CLIP-seq
MIRT1475746	hsa-miR-4310	CLIP-seq
MIRT1475747	hsa-miR-4420	CLIP-seq
MIRT1475748	hsa-miR-4446-3p	CLIP-seq
MIRT1475749	hsa-miR-4470	CLIP-seq
MIRT1475750	hsa-miR-448	CLIP-seq
MIRT1475751	hsa-miR-449a	CLIP-seq
MIRT1475752	hsa-miR-449b	CLIP-seq
MIRT1475753	hsa-miR-4534	CLIP-seq
MIRT1475754	hsa-miR-4638-3p	CLIP-seq
MIRT1475755	hsa-miR-4639-5p	CLIP-seq
MIRT1475756	hsa-miR-4645-5p	CLIP-seq
MIRT1475757	hsa-miR-4673	CLIP-seq
MIRT1475758	hsa-miR-4675	CLIP-seq
MIRT1475759	hsa-miR-4684-3p	CLIP-seq
MIRT1475760	hsa-miR-4690-5p	CLIP-seq
MIRT1475761	hsa-miR-4722-5p	CLIP-seq
MIRT1475762	hsa-miR-4733-5p	CLIP-seq
MIRT1475763	hsa-miR-4735-3p	CLIP-seq
MIRT1475764	hsa-miR-4741	CLIP-seq
MIRT1475765	hsa-miR-4742-5p	CLIP-seq
MIRT1475766	hsa-miR-4753-5p	CLIP-seq
MIRT1475767	hsa-miR-4766-5p	CLIP-seq
MIRT1475768	hsa-miR-4769-3p	CLIP-seq
MIRT1475769	hsa-miR-4771	CLIP-seq
MIRT1475770	hsa-miR-4802-5p	CLIP-seq
MIRT1475771	hsa-miR-488	CLIP-seq
MIRT1475772	hsa-miR-497	CLIP-seq
MIRT1475773	hsa-miR-513c	CLIP-seq
MIRT1475774	hsa-miR-514b-5p	CLIP-seq
MIRT1475775	hsa-miR-520g	CLIP-seq
MIRT1475776	hsa-miR-520h	CLIP-seq
MIRT1475777	hsa-miR-544	CLIP-seq
MIRT1475778	hsa-miR-548aa	CLIP-seq
MIRT1475779	hsa-miR-548ac	CLIP-seq
MIRT1475780	hsa-miR-548ae	CLIP-seq
MIRT1475781	hsa-miR-548ah	CLIP-seq
MIRT1475782	hsa-miR-548aj	CLIP-seq
MIRT1475783	hsa-miR-548am	CLIP-seq
MIRT1475784	hsa-miR-548d-3p	CLIP-seq
MIRT1475785	hsa-miR-548p	CLIP-seq
MIRT1475786	hsa-miR-548u	CLIP-seq
MIRT1475787	hsa-miR-548x	CLIP-seq
MIRT1475788	hsa-miR-548z	CLIP-seq
MIRT1475789	hsa-miR-550a	CLIP-seq
MIRT1475790	hsa-miR-576-5p	CLIP-seq
MIRT1475791	hsa-miR-582-3p	CLIP-seq
MIRT1475792	hsa-miR-622	CLIP-seq
MIRT1475793	hsa-miR-646	CLIP-seq
MIRT1475794	hsa-miR-668	CLIP-seq
MIRT1475795	hsa-miR-761	CLIP-seq
MIRT1475796	hsa-miR-890	CLIP-seq
MIRT1475711	hsa-miR-101	CLIP-seq
MIRT1475797	hsa-miR-204	CLIP-seq
MIRT1475798	hsa-miR-211	CLIP-seq
MIRT1475726	hsa-miR-3128	CLIP-seq
MIRT1475731	hsa-miR-34a	CLIP-seq
MIRT1475732	hsa-miR-3609	CLIP-seq
MIRT1475734	hsa-miR-3647-3p	CLIP-seq
MIRT1475736	hsa-miR-3654	CLIP-seq
MIRT1475799	hsa-miR-3938	CLIP-seq
MIRT1475744	hsa-miR-4276	CLIP-seq
MIRT1475800	hsa-miR-4279	CLIP-seq
MIRT1475745	hsa-miR-4282	CLIP-seq
MIRT1475749	hsa-miR-4470	CLIP-seq
MIRT1475801	hsa-miR-4496	CLIP-seq
MIRT1475751	hsa-miR-449a	CLIP-seq
MIRT1475752	hsa-miR-449b	CLIP-seq
MIRT1475754	hsa-miR-4638-3p	CLIP-seq
MIRT1475762	hsa-miR-4733-5p	CLIP-seq
MIRT1475802	hsa-miR-4755-5p	CLIP-seq
MIRT1475775	hsa-miR-520g	CLIP-seq
MIRT1475776	hsa-miR-520h	CLIP-seq
MIRT1475779	hsa-miR-548ac	CLIP-seq
MIRT1475780	hsa-miR-548ae	CLIP-seq
MIRT1475781	hsa-miR-548ah	CLIP-seq
MIRT1475782	hsa-miR-548aj	CLIP-seq
MIRT1475783	hsa-miR-548am	CLIP-seq
MIRT1475784	hsa-miR-548d-3p	CLIP-seq
MIRT1475786	hsa-miR-548u	CLIP-seq
MIRT1475787	hsa-miR-548x	CLIP-seq
MIRT1475788	hsa-miR-548z	CLIP-seq
MIRT1475791	hsa-miR-582-3p	CLIP-seq
MIRT1475792	hsa-miR-622	CLIP-seq
MIRT1475803	hsa-miR-623	CLIP-seq
MIRT1475804	hsa-miR-633	CLIP-seq
MIRT1475796	hsa-miR-890	CLIP-seq
MIRT1475715	hsa-miR-1343	CLIP-seq
MIRT1475738	hsa-miR-3690	CLIP-seq
MIRT1475742	hsa-miR-4254	CLIP-seq
MIRT2143383	hsa-miR-4520a-3p	CLIP-seq
MIRT1475754	hsa-miR-4638-3p	CLIP-seq
MIRT1475768	hsa-miR-4769-3p	CLIP-seq
MIRT1475715	hsa-miR-1343	CLIP-seq
MIRT1475716	hsa-miR-15a	CLIP-seq
MIRT1475717	hsa-miR-15b	CLIP-seq
MIRT1475718	hsa-miR-16	CLIP-seq
MIRT1475719	hsa-miR-18a	CLIP-seq
MIRT1475720	hsa-miR-18b	CLIP-seq
MIRT1475721	hsa-miR-195	CLIP-seq
MIRT1475722	hsa-miR-214	CLIP-seq
MIRT1475723	hsa-miR-22	CLIP-seq
MIRT1475728	hsa-miR-3158-3p	CLIP-seq
MIRT1475733	hsa-miR-3619-5p	CLIP-seq
MIRT2363614	hsa-miR-3622b-5p	CLIP-seq
MIRT1475738	hsa-miR-3690	CLIP-seq
MIRT1475739	hsa-miR-371-5p	CLIP-seq
MIRT1475740	hsa-miR-371b-5p	CLIP-seq
MIRT1475741	hsa-miR-424	CLIP-seq
MIRT1475742	hsa-miR-4254	CLIP-seq
MIRT1475748	hsa-miR-4446-3p	CLIP-seq
MIRT2143383	hsa-miR-4520a-3p	CLIP-seq
MIRT1475754	hsa-miR-4638-3p	CLIP-seq
MIRT1475758	hsa-miR-4675	CLIP-seq
MIRT1475760	hsa-miR-4690-5p	CLIP-seq
MIRT1475763	hsa-miR-4735-3p	CLIP-seq
MIRT1475764	hsa-miR-4741	CLIP-seq
MIRT1475766	hsa-miR-4753-5p	CLIP-seq
MIRT1475767	hsa-miR-4766-5p	CLIP-seq
MIRT1475768	hsa-miR-4769-3p	CLIP-seq
MIRT1475771	hsa-miR-488	CLIP-seq
MIRT1475772	hsa-miR-497	CLIP-seq
MIRT1475773	hsa-miR-513c	CLIP-seq
MIRT1475774	hsa-miR-514b-5p	CLIP-seq
MIRT1475789	hsa-miR-550a	CLIP-seq
MIRT1475793	hsa-miR-646	CLIP-seq
MIRT1475795	hsa-miR-761	CLIP-seq
MIRT1475796	hsa-miR-890	CLIP-seq
MIRT1475726	hsa-miR-3128	CLIP-seq
MIRT1475749	hsa-miR-4470	CLIP-seq
MIRT1475791	hsa-miR-582-3p	CLIP-seq
MIRT1475793	hsa-miR-646	CLIP-seq
MIRT2657231	hsa-miR-146b-3p	CLIP-seq
MIRT1475716	hsa-miR-15a	CLIP-seq
MIRT1475717	hsa-miR-15b	CLIP-seq
MIRT1475718	hsa-miR-16	CLIP-seq
MIRT1475721	hsa-miR-195	CLIP-seq
MIRT1475722	hsa-miR-214	CLIP-seq
MIRT2657232	hsa-miR-2276	CLIP-seq
MIRT1475724	hsa-miR-2392	CLIP-seq
MIRT2657233	hsa-miR-3120-3p	CLIP-seq
MIRT1475727	hsa-miR-3144-5p	CLIP-seq
MIRT1475729	hsa-miR-3166	CLIP-seq
MIRT2657234	hsa-miR-3173-5p	CLIP-seq
MIRT1475733	hsa-miR-3619-5p	CLIP-seq
MIRT2363614	hsa-miR-3622b-5p	CLIP-seq
MIRT1475735	hsa-miR-3649	CLIP-seq
MIRT1475737	hsa-miR-3689d	CLIP-seq
MIRT2657235	hsa-miR-3929	CLIP-seq
MIRT1475741	hsa-miR-424	CLIP-seq
MIRT1475743	hsa-miR-4263	CLIP-seq
MIRT1475746	hsa-miR-4310	CLIP-seq
MIRT2657236	hsa-miR-4329	CLIP-seq
MIRT2657237	hsa-miR-4419b	CLIP-seq
MIRT1475747	hsa-miR-4420	CLIP-seq
MIRT2657238	hsa-miR-4478	CLIP-seq
MIRT1475753	hsa-miR-4534	CLIP-seq
MIRT1475755	hsa-miR-4639-5p	CLIP-seq
MIRT1475756	hsa-miR-4645-5p	CLIP-seq
MIRT1475757	hsa-miR-4673	CLIP-seq
MIRT1475760	hsa-miR-4690-5p	CLIP-seq
MIRT2657239	hsa-miR-4708-3p	CLIP-seq
MIRT1475765	hsa-miR-4742-5p	CLIP-seq
MIRT2657240	hsa-miR-4763-5p	CLIP-seq
MIRT1475767	hsa-miR-4766-5p	CLIP-seq
MIRT1475769	hsa-miR-4771	CLIP-seq
MIRT1475770	hsa-miR-4802-5p	CLIP-seq
MIRT1475772	hsa-miR-497	CLIP-seq
MIRT2657241	hsa-miR-545	CLIP-seq
MIRT1475778	hsa-miR-548aa	CLIP-seq
MIRT1475785	hsa-miR-548p	CLIP-seq
MIRT1475786	hsa-miR-548u	CLIP-seq
MIRT1475790	hsa-miR-576-5p	CLIP-seq
MIRT1475794	hsa-miR-668	CLIP-seq
MIRT1475795	hsa-miR-761	CLIP-seq
MIRT2657242	hsa-miR-874	CLIP-seq
MIRT2657231	hsa-miR-146b-3p	CLIP-seq
MIRT1475716	hsa-miR-15a	CLIP-seq
MIRT1475717	hsa-miR-15b	CLIP-seq
MIRT1475718	hsa-miR-16	CLIP-seq
MIRT1475721	hsa-miR-195	CLIP-seq
MIRT1475722	hsa-miR-214	CLIP-seq
MIRT2657232	hsa-miR-2276	CLIP-seq
MIRT1475724	hsa-miR-2392	CLIP-seq
MIRT2657233	hsa-miR-3120-3p	CLIP-seq
MIRT1475727	hsa-miR-3144-5p	CLIP-seq
MIRT1475729	hsa-miR-3166	CLIP-seq
MIRT2657234	hsa-miR-3173-5p	CLIP-seq
MIRT1475733	hsa-miR-3619-5p	CLIP-seq
MIRT2363614	hsa-miR-3622b-5p	CLIP-seq
MIRT1475735	hsa-miR-3649	CLIP-seq
MIRT1475737	hsa-miR-3689d	CLIP-seq
MIRT2657235	hsa-miR-3929	CLIP-seq
MIRT1475741	hsa-miR-424	CLIP-seq
MIRT1475743	hsa-miR-4263	CLIP-seq
MIRT1475746	hsa-miR-4310	CLIP-seq
MIRT2657236	hsa-miR-4329	CLIP-seq
MIRT2657237	hsa-miR-4419b	CLIP-seq
MIRT1475747	hsa-miR-4420	CLIP-seq
MIRT2657238	hsa-miR-4478	CLIP-seq
MIRT1475753	hsa-miR-4534	CLIP-seq
MIRT1475755	hsa-miR-4639-5p	CLIP-seq
MIRT1475756	hsa-miR-4645-5p	CLIP-seq
MIRT1475757	hsa-miR-4673	CLIP-seq
MIRT2657239	hsa-miR-4708-3p	CLIP-seq
MIRT1475765	hsa-miR-4742-5p	CLIP-seq
MIRT2657240	hsa-miR-4763-5p	CLIP-seq
MIRT1475767	hsa-miR-4766-5p	CLIP-seq
MIRT1475769	hsa-miR-4771	CLIP-seq
MIRT1475770	hsa-miR-4802-5p	CLIP-seq
MIRT1475772	hsa-miR-497	CLIP-seq
MIRT2657241	hsa-miR-545	CLIP-seq
MIRT1475778	hsa-miR-548aa	CLIP-seq
MIRT1475785	hsa-miR-548p	CLIP-seq
MIRT1475786	hsa-miR-548u	CLIP-seq
MIRT1475790	hsa-miR-576-5p	CLIP-seq
MIRT1475794	hsa-miR-668	CLIP-seq
MIRT1475795	hsa-miR-761	CLIP-seq
MIRT2657242	hsa-miR-874	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003684	Function	Damaged DNA binding	IDA	18973764
GO:0004844	Function	Uracil DNA N-glycosylase activity	IBA	21873635
GO:0004844	Function	Uracil DNA N-glycosylase activity	NAS	9016624
GO:0004844	Function	Uracil DNA N-glycosylase activity	TAS
GO:0005515	Function	Protein binding	IPI	10982866, 18973764, 24910198
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	NAS	9016624
GO:0005654	Component	Nucleoplasm	TAS
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0006281	Process	DNA repair	TAS	1923798
GO:0006284	Process	Base-excision repair	TAS	10805771
GO:0016032	Process	Viral process	IEA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IEA
GO:0043024	Function	Ribosomal small subunit binding	IPI	18973764
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045008	Process	Depyrimidination	TAS
GO:0045190	Process	Isotype switching	IEA
GO:0097510	Process	Base-excision repair, AP site formation via deaminated base removal	IBA	21873635
GO:0097510	Process	Base-excision repair, AP site formation via deaminated base removal	IDA	18973764

Other IDs

• MIM: 191525
• HGNC: 12572
• e!Ensembl: ENSG00000076248

Protein

• UniProt ID: P13051
• Protein name: Uracil-DNA glycosylase (UDG) (EC 3.2.2.27)
• Protein function: Uracil-DNA glycosylase that hydrolyzes the N-glycosidic bond between uracil and deoxyribose in single- and double-stranded DNA (ssDNA and dsDNA) to release a free uracil residue and form an abasic (apurinic/apyrimidinic; AP) site. Excises uracil
• PDB: 1AKZ, 1DPU, 1EMH, 1EMJ, 1Q3F, 1SSP, 1UGH, 1YUO, 2HXM, 2OXM, 2OYT, 2SSP, 3FCF, 3FCI, 3FCK, 3FCL, 3TKB, 4SKN, 5AYR, 5JK7, 6VBA, 7V7C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03167	UDG	140 → 302	Uracil DNA glycosylase superfamily	Domain

• Sequence:

  MIGQKTLYSFFSPSPARKRHAPSPEPAVQGTGVAGVPEESGDAAAIPAKKAPAGQEEPGT
  PPSSPLSAEQLDRIQRNKAAALLRLAARNVPVGFGESWKKHLSGEFGKPYFIKLMGFVAE
  ERKHYTVYPPPHQVFTWTQMCDIKDVKVVILGQDPYHGPNQAHGLCFSVQRPVPPPPSLE
  NIYKELSTDIEDFVHPGHGDLSGWAKQGVLLLNAVLTVRAHQANSHKERGWEQFTDAVVS
  WLNQNSNGLVFLLWGSYAQKKGSAIDRKRHHVLQTAHPSPLSVYRGFFGCRHFSKTNELL
  QKSGKKPIDWKEL

• Sequence length: 313

Pathways

KEGG:

Base excision repair
Primary immunodeficiency

Reactome:

Recognition and association of DNA glycosylase with site containing an affected pyrimidine
Cleavage of the damaged pyrimidine
Displacement of DNA glycosylase by APEX1

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Bloom syndrome	Bloom Syndrome	rs113993962, rs367543035, rs137853153, rs367543043, rs367543036, rs367543028, rs367543016, rs367543024, rs367543039, rs367543014, rs367543030, rs367543029, rs367543032, rs367543017, rs367543033, rs148969222, rs367543018, rs367543021, rs367543031, rs367543026, rs367543013, rs367543012, rs367543019, rs200389141, rs587779884, rs587779886, rs587783037, rs730881428, rs786204524, rs747281324, rs786204471, rs780379121, rs797045115, rs864622347, rs886051551, rs750293380, rs745807085, rs1057516297, rs1057517229, rs1057517359, rs1057517030, rs1057516964, rs746244182, rs1057516361, rs1057517266, rs1057517432, rs1057516956, rs1057517431, rs1057516452, rs1057516700, rs745538883, rs1057516719, rs1057516253, rs1057516774, rs1057516547, rs1057517154, rs1057516728, rs1555420842, rs762354041, rs781221411, rs1060500652, rs1248548542, rs373525781, rs960430492, rs1555419710, rs1555419806, rs1319786857, rs1555419889, rs772785079, rs770751979, rs1555424368, rs1555418701, rs1555419704, rs1555419724, rs1555419742, rs1555419829, rs1555419862, rs1555420142, rs1555420602, rs1555420844, rs1245531016, rs1555425074, rs1179486581, rs1555419961, rs1555420871, rs1555423119, rs746218707, rs1555425080, rs1215497457, rs1555418380, rs1170049553, rs1555419696, rs1555419748, rs754203833, rs1555419902, rs1555420917, rs1555424305, rs1555424372, rs1555424376, rs1555425063, rs897262346, rs1555418352, rs1555419873, rs1555419980, rs762804291, rs1555423062, rs1555423753, rs1555424311, rs1234064430, rs1275708646, rs1555425062, rs764086459, rs770311534, rs1567036566, rs1567036579, rs1309932713, rs1567045531, rs1567063125, rs1567066891, rs1477193473, rs1567045130, rs1567052324, rs1567038003, rs1400231534, rs1567052178, rs1567053170, rs1567040469, rs774777021, rs1596218981, rs1217879599, rs1596230118, rs1596235791, rs1596267627, rs1596223715, rs1596250472, rs1596252279, rs865866188, rs1596232266, rs747341586, rs918752814, rs1567035745, rs1596221020, rs1596228957, rs1596229894, rs747498968, rs1356090839, rs138943954, rs1486692931, rs1231598990, rs1596250255, rs1897239414, rs1895612617, rs1895692863, rs1205301894, rs1896235438, rs1896237929, rs1896712163, rs1896974524, rs1286600850, rs1895641581	2106500
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208	15814641
Colorectal neoplasms	Colorectal Neoplasms	rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049, rs63750451, rs121434629, rs63751247, rs63750710, rs63751615, rs63750781, rs63750899, rs63750691, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs63750245, rs193922372, rs63750393, rs63749932, rs193922375, rs193922376, rs193922343, rs397514684, rs397515875, rs267608094, rs587779204, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs587779215, rs587779216, rs587779219, rs63749874, rs267608076, rs587779220, rs267608050, rs63750735, rs63750564, rs71539659, rs267608082, rs63751167, rs267608057, rs587779227, rs267608068, rs63750075, rs587779228, rs63751419, rs587779231, rs587779232, rs267608058, rs63751442, rs63751127, rs63750647, rs63750138, rs587779235, rs267608065, rs63751321, rs587779241, rs587779243, rs63750904, rs63751017, rs587779246, rs267608063, rs63750140, rs63750940, rs63750111, rs587779250, rs63750258, rs63750563, rs267608073, rs63751407, rs267608059, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs63749821, rs63749843, rs63750617, rs267608078, rs587779259, rs267608092, rs587779260, rs267608086, rs1553331676, rs63750356, rs587779263, rs267608098, rs587779264, rs587779267, rs63750194, rs63751327, rs587779269, rs63751328, rs587779274, rs587779279, rs267608111, rs1553332996, rs587779284, rs63749942, rs587779288, rs63751058, rs63750554, rs267608114, rs267608118, rs63750139, rs63751319, rs267608128, rs587779295, rs267608127, rs267608126, rs63750767, rs267608120, rs587779299, rs267608121, rs587779301, rs267608131, rs267608122, rs63749873, rs63751077, rs1800937, rs587779315, rs587779318, rs63750019, rs267608066, rs63749980, rs63750552, rs1553412283, rs146816935, rs587779001, rs63750677, rs63750339, rs63751609, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs587778882, rs587778883, rs63751012, rs63750715, rs63750580, rs587778888, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs587778896, rs63751015, rs267607713, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607837, rs267607836, rs63750028, rs587778930, rs63751277, rs587778933, rs267607843, rs63750192, rs63750300, rs63750193, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs63751608, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750587, rs63749863, rs63749868, rs63750035, rs63750604, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63750152, rs63750850, rs267607867, rs267607869, rs63751632, rs267607871, rs587778956, rs63749792, rs267607875, rs63750610, rs281864938, rs63751465, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs63751662, rs267607884, rs267607883, rs63750639, rs63750206, rs587778967, rs63750663, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs267607717, rs587778973, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs267607888, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63751642, rs63751022, rs587778983, rs587778984, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63749859, rs63750437, rs587778997, rs63749990, rs587778998, rs63750005, rs63750641, rs63751421, rs63750266, rs111052004, rs267607726, rs63750453, rs267607734, rs267607735, rs63751665, rs267607732, rs63749816, rs63750539, rs587779006, rs63751606, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs63750866, rs63750865, rs587779010, rs587779012, rs63750057, rs72481822, rs587779014, rs587779015, rs63751045, rs63749820, rs267607750, rs267607749, rs267607753, rs63750891, rs63749959, rs63749804, rs63750903, rs63750211, rs267607765, rs267607760, rs587779021, rs587779022, rs267607759, rs63750515, rs63750648, rs63751480, rs267607772, rs587779024, rs267607768, rs63751653, rs587779027, rs267607767, rs63750581, rs63750706, rs63750385, rs587779031, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs267607785, rs267607783, rs63750823, rs63750822, rs267607787, rs63750303, rs587779037, rs63750948, rs63749827, rs587779039, rs267607789, rs267607790, rs267607791, rs267607786, rs267607795, rs267607794, rs267607788, rs63750792, rs63749950, rs587779045, rs63750034, rs587779047, rs63750216, rs63750517, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs587779054, rs587779055, rs63751259, rs63749926, rs63750796, rs587779058, rs63751197, rs587779063, rs63750778, rs63751004, rs63751147, rs63751027, rs63750396, rs587779067, rs267607940, rs267607943, rs63751617, rs63750558, rs63750267, rs63749849, rs587779075, rs63750302, rs63750611, rs63750984, rs63750586, rs63751412, rs63751413, rs587779076, rs63751142, rs63750086, rs63750006, rs267607950, rs267607949, rs63751693, rs587779083, rs587779084, rs63750807, rs63749920, rs267607954, rs267607957, rs587779087, rs63750384, rs63750615, rs63750068, rs63749947, rs1114167806, rs63750936, rs267607962, rs587779097, rs63750780, rs63749930, rs63750224, rs63750094, rs63750337, rs63751656, rs267607969, rs267607972, rs63750597, rs267607970, rs267607971, rs587779101, rs587779103, rs63751149, rs63750474, rs587779105, rs63751411, rs587779108, rs267607976, rs63751140, rs587779110, rs267607977, rs63750200, rs63751236, rs267607985, rs63750951, rs587779112, rs63750493, rs267607984, rs63750312, rs63750508, rs63750280, rs63750160, rs63750203, rs63750960, rs63750893, rs63751317, rs587779119, rs267607986, rs267607987, rs587779125, rs267607988, rs267607990, rs63751640, rs63751123, rs587779129, rs587779131, rs267607995, rs63750199, rs587779133, rs63749993, rs63750232, rs63751432, rs267607994, rs63750961, rs63750398, rs587779136, rs267607915, rs267607914, rs267607917, rs587779138, rs63750636, rs63751453, rs587779139, rs63750572, rs267608002, rs267608006, rs267607979, rs267608001, rs63751155, rs63751477, rs63750042, rs63749854, rs587779143, rs63751105, rs63750346, rs63749848, rs63750618, rs63750149, rs63750233, rs63750803, rs63750463, rs63749983, rs63751018, rs63749917, rs267608010, rs267608012, rs63751621, rs63750623, rs63751117, rs63751447, rs587779148, rs63750857, rs587779149, rs63749830, rs63750849, rs63750291, rs63751618, rs267608019, rs267608017, rs63751624, rs267608020, rs587779153, rs63751469, rs267607920, rs63750084, rs63750808, rs63751007, rs63751429, rs63750970, rs63751099, rs63750318, rs587779157, rs63750501, rs63750614, rs587779159, rs63750458, rs267607924, rs267607925, rs63750924, rs63750704, rs63750408, rs63750910, rs63751426, rs63750624, rs63750214, rs63750582, rs587779163, rs63750843, rs63750933, rs63750070, rs587779164, rs63750382, rs63750551, rs63751444, rs63750088, rs587779165, rs63751326, rs63750682, rs63751110, rs63751136, rs587779167, rs63750574, rs63749984, rs63751622, rs63751274, rs267607689, rs587779169, rs267607930, rs267607929, rs63751602, rs587779170, rs63749897, rs63750426, rs281864944, rs63750488, rs63749832, rs63750347, rs267607934, rs587779185, rs63750091, rs63750276, rs63750097, rs587779189, rs587779190, rs587779191, rs63750934, rs63750885, rs63749915, rs63749914, rs63750640, rs587779193, rs587779195, rs12476364, rs587779198, rs63750502, rs63751044, rs63750630, rs63750468, rs63750828, rs267608156, rs587779326, rs587778617, rs587779330, rs267608169, rs63750477, rs63750793, rs63750250, rs63750490, rs63751422, rs201451115, rs587779333, rs267608170, rs267608161, rs267608172, rs63750695, rs587779336, rs267608173, rs267608160, rs1554306445, rs587779338, rs63751029, rs267608148, rs587779343, rs63750261, rs267608147, rs587779344, rs267608149, rs267608151, rs267608154, rs63750246, rs267608153, rs200640585, rs143277125, rs587779347, rs398123231, rs398123232, rs587779778, rs587779254, rs587779914, rs200492211, rs587779936, rs587779941, rs587779950, rs587779964, rs587779979, rs587780059, rs188006077, rs587780062, rs587780064, rs587780538, rs587778618, rs587780683, rs587780724, rs63751427, rs587781317, rs63750119, rs587781339, rs587781372, rs587781395, rs267608064, rs587781462, rs63750737, rs587781544, rs587781554, rs587781626, rs587781691, rs587781716, rs587782074, rs587782111, rs587782277, rs587782326, rs587782336, rs587782561, rs587782593, rs141577476, rs587782659, rs587782704, rs63751604, rs587782710, rs587782712, rs267607712, rs587782787, rs587783056, rs373885654, rs730881775, rs587779166, rs730881774, rs730881816, rs730881825, rs730881827, rs730881829, rs730881830, rs730881734, rs41542214, rs786202037, rs786203424, rs786203604, rs786201066, rs786203036, rs786201590, rs786203704, rs786201042, rs786203597, rs587782281, rs786202848, rs786201049, rs750528093, rs786202363, rs786202108, rs267608083, rs786201050, rs374230313, rs786203924, rs786202842, rs786203331, rs786201084, rs1553333738, rs267607716, rs786202328, rs786203456, rs786201990, rs786201039, rs786201062, rs778531080, rs786203073, rs63751228, rs786201047, rs573125799, rs786203954, rs786202098, rs587779340, rs763308607, rs786204082, rs786204144, rs786204050, rs786204252, rs786204104, rs786204321, rs869320619, rs863224481, rs863224833, rs863224473, rs863224829, rs863224474, rs863224475, rs863224476, rs863224480, rs63750549, rs863224498, rs863224497, rs863224496, rs267608159, rs863224450, rs863224676, rs863225397, rs863225386, rs863225387, rs267607953, rs863225389, rs863225390, rs370970617, rs759263820, rs863225392, rs863225394, rs863225395, rs863225402, rs863225421, rs863225398, rs863225399, rs863225400, rs863225403, rs863225404, rs863225406, rs587782562, rs863225408, rs863225409, rs863225412, rs863225416, rs863225418, rs863225383, rs863225384, rs863225377, rs863225378, rs863225381, rs864622041, rs63750059, rs1553350680, rs864622183, rs63749991, rs864622340, rs63750330, rs864622436, rs864622121, rs864622435, rs864622153, rs864622257, rs864622585, rs864622607, rs786203968, rs267607744, rs267607823, rs267607832, rs864622457, rs864622600, rs3209663, rs869312768, rs869312769, rs869312770, rs869312767, rs759151952, rs876657701, rs876661033, rs876661205, rs876661025, rs876661193, rs63749919, rs876661073, rs876661222, rs876661171, rs876661159, rs63749818, rs876658915, rs876661113, rs876661203, rs766389591, rs760228510, rs763939668, rs876660480, rs876658996, rs876660655, rs876658918, rs876658223, rs876660711, rs876658211, rs876660095, rs876658296, rs876660549, rs876658881, rs876660630, rs876659189, rs876660283, rs876660943, rs866771359, rs876658817, rs876658962, rs876658339, rs876658657, rs876658821, rs876659068, rs63750217, rs876659681, rs876659608, rs876659480, rs876659900, rs876660459, rs876658862, rs587782898, rs876658964, rs876659736, rs878853815, rs878853824, rs878853802, rs878853809, rs267608041, rs878853702, rs878853709, rs878853711, rs878853718, rs878853721, rs878853729, rs878853736, rs878853739, rs878853742, rs878853745, rs878853792, rs878853794, rs878853777, rs878853778, rs878853780, rs878853785, rs878853787, rs878854037, rs878854060, rs878854059, rs763872353, rs879254025, rs879254104, rs879253899, rs879254234, rs1553640314, rs886039424, rs886039646, rs886039615, rs886044911, rs63750058, rs1057517551, rs1057517541, rs756843954, rs1057517764, rs1057517763, rs1057517801, rs769742496, rs1057520605, rs1057520735, rs1057524433, rs786202083, rs1553350787, rs1060502035, rs267607694, rs1060502039, rs1060502014, rs1060502038, rs1060502032, rs1060502001, rs1060502000, rs1060502885, rs1060502941, rs1060502029, rs775464903, rs1064792951, rs1553413673, rs1060502918, rs1060502876, rs1060502888, rs1060502932, rs1060502901, rs1060502891, rs1060502940, rs1060502937, rs1060502926, rs1060502886, rs1060501993, rs1060501989, rs1060502890, rs1060502027, rs1060502023, rs1060501991, rs1060502903, rs1553333432, rs1060502875, rs1060502946, rs1060502882, rs1060502881, rs1060500689, rs764085979, rs1060500707, rs1064792918, rs1060500698, rs1060500699, rs1060500706, rs63750867, rs1060500688, rs1060500703, rs1060500692, rs1060500687, rs1060503142, rs111466480, rs1060503137, rs746766787, rs758304323, rs764342199, rs876659162, rs1554300763, rs730881920, rs1060503148, rs1060503110, rs1060503138, rs1064794155, rs1064794809, rs1553352505, rs267607939, rs876658187, rs1064793561, rs1064795653, rs1064795329, rs267608011, rs1064794075, rs1553411392, rs1023534466, rs1553412609, rs1064794388, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794943, rs876660853, rs1064793489, rs1064795629, rs1064794384, rs1553333072, rs1553333078, rs1553333127, rs1553333500, rs1064793895, rs760190301, rs1064795341, rs1064793607, rs587778968, rs1064795441, rs1064794612, rs1064795515, rs1064794267, rs1064793823, rs1064794331, rs63750978, rs1064796500, rs1064794566, rs1064793234, rs757324104, rs1064794905, rs1064795447, rs1064796190, rs1064793868, rs1554304940, rs1064794083, rs1064795705, rs1064794173, rs1064794152, rs1085308057, rs1114167435, rs1114167883, rs1114167831, rs1114167877, rs1114167855, rs587782537, rs1114167814, rs1114167848, rs1114167845, rs979212552, rs1114167809, rs1114167858, rs1553356720, rs1114167833, rs1114167852, rs1114167835, rs1114167854, rs1114167815, rs267607982, rs1114167844, rs1114167805, rs730881762, rs1114167857, rs1114167832, rs1114167826, rs1114167841, rs1114167828, rs1114167818, rs1114167719, rs1114167776, rs1114167689, rs1114167728, rs1114167692, rs1114167725, rs1114167704, rs1114167696, rs1114167748, rs1114167763, rs1114167804, rs1114167731, rs1114167801, rs753796271, rs1114167736, rs1114167756, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167702, rs1114167765, rs587780670, rs1114167766, rs777159874, rs587782638, rs1114167747, rs1114167709, rs1114167694, rs786204048, rs1114167771, rs1114167794, rs1114167714, rs765411990, rs587782862, rs1114167773, rs1114167724, rs1114167707, rs1114167782, rs1114167793, rs1114167767, rs766905993, rs1114167723, rs1114167755, rs752404604, rs1114167706, rs1114167717, rs1114167783, rs1114167760, rs1553333599, rs1553333615, rs1553333644, rs1114167790, rs587779297, rs1553351549, rs753075410, rs63751271, rs371776176, rs63750689, rs1553369164, rs202145681, rs1553370310, rs1230083633, rs1553412966, rs1553413710, rs1348956744, rs1553331290, rs1553333421, rs1553333598, rs1416452389, rs1553333707, rs1553641362, rs63751448, rs1553648058, rs587778937, rs1553662753, rs1554292880, rs988423880, rs1553353114, rs63751119, rs1553647995, rs1553663750, rs1458321358, rs730881919, rs1553413178, rs63750443, rs63751596, rs1554309086, rs1553348794, rs1553348882, rs1553348898, rs1553348901, rs1553370371, rs1553365799, rs1553370431, rs1553366510, rs1553408158, rs1553366680, rs1553370404, rs1553411419, rs1553408136, rs1553412397, rs869040863, rs1553348842, rs1553348904, rs1553413599, rs1553413655, rs1553413732, rs1553414022, rs767021188, rs1553350966, rs1553412409, rs796532309, rs587779064, rs1553365711, rs1553333017, rs1553412649, rs1553333175, rs1553333301, rs1553333605, rs1553369100, rs1553369131, rs1553331722, rs1324100572, rs1553332776, rs761037236, rs1553412755, rs1553333438, rs1553333449, rs1553412835, rs1553412735, rs1553413424, rs1553414131, rs1553331337, rs1553332297, rs773262801, rs1553333185, rs1553331454, rs1553332151, rs1553333530, rs1553333633, rs587779285, rs1553333310, rs1553333321, rs1553333497, rs1553646681, rs1553647894, rs1553648195, rs1553653158, rs550890395, rs1064796057, rs1553651130, rs1553662800, rs1553665467, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1553652930, rs1434898623, rs1553665683, rs1554298087, rs1554295967, rs1554297040, rs1554298741, rs1554294393, rs1554297523, rs1554293920, rs1554301486, rs1554304974, rs1553348896, rs1553368675, rs1203462814, rs1553369665, rs1553350721, rs1553369812, rs1553361261, rs1553370443, rs1553408388, rs1553413717, rs63749973, rs1553412064, rs1553408467, rs267608062, rs765873566, rs730881815, rs1553414578, rs1553331665, rs1553331366, rs1553332166, rs1553413663, rs1553332622, rs1553333164, rs63751137, rs1553642777, rs1553648068, rs1553332733, rs1553644123, rs1553648149, rs1302248679, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664702, rs1553647969, rs1437454428, rs1231406078, rs1554293991, rs1554297488, rs1554297534, rs1064794577, rs1554297764, rs1554298082, rs876661256, rs1554298056, rs1554293810, rs939641251, rs1554304979, rs1554297058, rs1554298067, rs1554306288, rs151244108, rs1553412129, rs1054003194, rs1553412824, rs1553413253, rs1553332671, rs1553333168, rs1553333700, rs63751101, rs1553646764, rs1554300689, rs1554297877, rs1437858319, rs1432436629, rs1553648225, rs1553352462, rs1553332772, rs1553648201, rs1553333635, rs1554297125, rs753256070, rs1553414092, rs587779923, rs1554297962, rs1553361162, rs1554294448, rs1553412495, rs1253275403, rs1553350167, rs267607937, rs1553361231, rs730881755, rs1553408306, rs1553365719, rs1553370366, rs1553370397, rs1553412441, rs1553412960, rs1553411391, rs770110491, rs1553350466, rs1553350758, rs1553413116, rs1553413294, rs1553413074, rs1553361289, rs1553413640, rs1553413784, rs1553414488, rs1553331242, rs1553410300, rs1553414498, rs1553332312, rs1553412502, rs1114167705, rs1553331659, rs1553332768, rs1553414102, rs1553414395, rs1553414519, rs1553331228, rs1553333674, rs1553638868, rs1553663981, rs1553644277, rs1553665866, rs1554297082, rs1554297564, rs1394474494, rs1554293959, rs587782175, rs1554297285, rs1554298786, rs1553356605, rs1553356700, rs1553369034, rs1553370435, rs1553413305, rs1553331304, rs1553652883, rs63751435, rs1553653195, rs1553662622, rs1554293975, rs1554297164, rs1554297342, rs1554297636, rs1461669945, rs1553658104, rs1553350250, rs1553410230, rs1554304745, rs1554298756, rs1553648220, rs1559543768, rs745487791, rs1558438591, rs1558508067, rs1558508343, rs1558645195, rs1558658971, rs1558661368, rs1558663954, rs1558390582, rs1558392228, rs1558461615, rs1558466434, rs1558519611, rs1558521949, rs1558644886, rs587782101, rs1558661380, rs1558662873, rs1558392033, rs1558394093, rs1559544064, rs63750584, rs1558459096, rs1060501994, rs63751667, rs878853704, rs1558665297, rs1558387361, rs1558393006, rs1558394104, rs1559524070, rs1559530646, rs1553645226, rs1559551570, rs1559575107, rs1559597322, rs1558451119, rs1558459882, rs1558478567, rs1562605623, rs1562614946, rs781078805, rs1558644683, rs1558658980, rs1558659056, rs1558659699, rs1558667222, rs1558668156, rs1558668258, rs1558393070, rs1558394336, rs1562626204, rs1562629003, rs1562632035, rs587782602, rs1562634737, rs1562635799, rs1562669585, rs1060500702, rs1559539489, rs1559553501, rs1562616355, rs1562644987, rs764171734, rs1562711587, rs1562598658, rs1562604682, rs1562664845, rs1562678257, rs1558666177, rs1562633172, rs1559558071, rs1261282733, rs63750832, rs587778978, rs1064795063, rs1558511051, rs63751097, rs765763906, rs1562626070, rs1562671039, rs1558518588, rs1558461683, rs63751115, rs1558644995, rs1558659265, rs1558660612, rs1559521039, rs1559574795, rs1562626011, rs1562636427, rs1559578422, rs772491283, rs1573424223, rs730881784, rs1573446614, rs1573451108, rs1558464008, rs1573484655, rs1573566217, rs1573566488, rs1573567212, rs63750078, rs1573567340, rs1573567537, rs1573567630, rs1573569948, rs1573570621, rs1573574086, rs1573578423, rs1573578439, rs1573579206, rs1572698011, rs1572708636, rs1473648816, rs1276159036, rs1572716371, rs1572719776, rs1572719974, rs1572720016, rs1572720562, rs1572720704, rs778555956, rs1553412720, rs1572723270, rs1572723640, rs587779221, rs1572725436, rs1572725803, rs1572726309, rs1572726468, rs63750985, rs1572727440, rs1572727797, rs1572729033, rs367758473, rs587779253, rs1572730002, rs1572730065, rs1315445200, rs1572735072, rs1572735943, rs1572738865, rs1572745157, rs754469538, rs1572746365, rs1572747837, rs1575376458, rs1575376830, rs1575395515, rs63750507, rs1575469070, rs1575481212, rs1575537843, rs1575620443, rs1575621386, rs1575621506, rs63750740, rs1386031101, rs1575640892, rs1583285552, rs1583299686, rs1583318494, rs1583320992, rs1243063129, rs757679199, rs1583375182, rs762387250, rs36038802, rs267608035, rs1572716545, rs1572739097, rs1575628928, rs746306598, rs1572747278, rs1572747685, rs1583374709, rs1572708580, rs1572736122, rs1575414321, rs1573437173, rs1573456772, rs1583316404, rs1583363851, rs1572727176, rs1573423412, rs1573440880, rs1573442100, rs369670665, rs1573451078, rs1573547745, rs1573548065, rs1573553636, rs1573567132, rs63750234, rs63751409, rs138465383, rs1573573619, rs1572720192, rs1572720794, rs1572722737, rs1572723723, rs1572725235, rs745483465, rs1572728039, rs1572728112, rs1572728472, rs1572729161, rs1175196087, rs1572736128, rs1572738533, rs1572739043, rs891318615, rs1572741984, rs1572745084, rs1572746382, rs1572746488, rs1060504739, rs1575414904, rs1575448385, rs1575469505, rs1466223609, rs63750198, rs1575639851, rs1575640960, rs1583269216, rs1583285344, rs1583319050, rs1583334346, rs1562651617, rs1583410315, rs767028531, rs1573566175, rs1572739119, rs1572746025, rs1575449402, rs1325835006, rs1672250353, rs1672664863, rs1672951706, rs1673066717, rs1673067879, rs1673070318, rs1666728055, rs1667076589, rs63751433, rs1667245819, rs1667245915, rs1667313093, rs1667395869, rs1667504677, rs1668118988, rs1668692410, rs587779313, rs1669058948, rs1669059418, rs1669245178, rs1669252923, rs1669287624, rs1007311950, rs1669354866, rs1669364351, rs1669365820, rs41295270, rs1669441162, rs1669445829, rs1669451548, rs1669467747, rs1669486855, rs1669487701, rs1669491751, rs1669493890, rs1669760609, rs1669874125, rs1670044220, rs1670120965, rs2080898853, rs2080899985, rs2081922847, rs2083403132, rs2083405700, rs2085310643, rs2085311497, rs2085415927, rs2085469647, rs1782934080, rs1782947222, rs1782958183, rs1782962828, rs1064793426, rs63750456, rs1783004175, rs1783147885, rs1783516106, rs1344095646, rs1784299649, rs1784536095, rs1784802468, rs1784806713, rs1221485925, rs1299958102, rs1669882321, rs2082517369, rs1673083690, rs1667266283, rs1307026290, rs1672953209, rs1667575488	15814641
Hyper-igm syndrome	Hyper-IgM syndrome type 5	rs104894324, rs104894325, rs104894321, rs104894322, rs104894323, rs104894327, rs387906328, rs387906329, rs104894380, rs2145595063, rs28931586, rs1568906348, rs1568905451, rs193922703, rs786205474, rs1057520542, rs772214871, rs762590894, rs200858797, rs1591744217, rs1227905250, rs769399833, rs886923939

Unknown
Disease term	Disease name	Evidence	References	Source
Hyperimmunoglobulin m syndrome	Hyperimmunoglobulin M syndrome			ClinVar
Hyper-IgM Syndrome	hyper-IgM syndrome type 5			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Agammaglobulinemia	Associate	19903677
Alzheimer Disease	Associate	31415677
Bloom Syndrome	Associate	1924305, 3353381
Breast Neoplasms	Associate	33675849
Colorectal Neoplasms	Associate	17029639, 23873851, 33675849, 33795350
Coronary Artery Disease	Associate	28120895
COVID 19	Associate	35472524
Cystic Fibrosis	Associate	7683477
Drug Hypersensitivity	Associate	23873851
Drug Related Side Effects and Adverse Reactions	Associate	27517750
Dysgammaglobulinemia	Associate	19903677
Esophageal Neoplasms	Associate	26194062
Glioma	Associate	15681472
Herpes Simplex	Associate	6115860
HIV Infections	Associate	15721252, 24178031, 36114511
HIV Infections	Stimulate	20371602
HTLV I Infections	Associate	19696076
Hyper IgM Immunodeficiency Syndrome	Associate	12840068, 15967827, 22992442
Hyper IgM Immunodeficiency Syndrome Type 1	Associate	15358621, 19023113
Immune System Diseases	Associate	3353381
Inflammation	Associate	34880864
Light Fixation Seizure Syndrome	Associate	15358621
Lung Neoplasms	Associate	23873851
Lymphoma B Cell	Associate	17062624
Myotonic Dystrophy	Associate	29269788
Nasopharyngeal Carcinoma	Associate	33102573
Neoplasms	Associate	18676834, 26494862, 27517750, 27875297, 29117941, 31611371, 33446690, 36444883
Neoplasms Squamous Cell	Associate	30572497
Non Muscle Invasive Bladder Neoplasms	Associate	22701660
Non Muscle Invasive Bladder Neoplasms	Stimulate	33004944
Osteosarcoma	Associate	7534293
Ovarian Neoplasms	Associate	27875297, 30747491
Prostatic Neoplasms	Associate	19671688
Prostatic Neoplasms Castration Resistant	Associate	28846663
Toxoplasmosis Ocular	Associate	35078413
Uterine Cervical Dysplasia	Associate	30572497
Uterine Cervical Neoplasms	Associate	30572497
Waldenstrom Macroglobulinemia	Associate	19903677
Xeroderma Pigmentosum	Associate	8207043