DAG1 (dystroglycan 1)

Gene

• Entrez ID: 1605
• Gene name: Dystroglycan 1
• Gene symbol: DAG1
• Synonyms (NCBI Gene): 156DAG, A3a, AGRNR, DAG, LGMDR16, MDDGA9, MDDGC7, MDDGC9
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2229010	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs41290704	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs139781017	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs140204495	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs143763229	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs143829263	G>A,T	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs145403829	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs146453412	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149218670	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150727558	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs189360006	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs193922955	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs201713621	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs374490206	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs551679833	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs577609846	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs749427996	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs752506833	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs764289801	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs767737417	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs773066265	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs775928044	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs797045023	G>T	Pathogenic	Missense variant, coding sequence variant
rs869320680	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044452	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064793360	TTCGAGATCCACGTCCACAGGCGCCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691506	TT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1334656238	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1553648360	C>-	Likely-pathogenic, benign	Frameshift variant, missense variant, coding sequence variant
rs1553652503	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553652513	TTCTCCATCGAGGT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553652751	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553653948	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1575410562	G>T	Likely-pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005906	hsa-miR-29a-3p	qRT-PCR	21169019
MIRT020649	hsa-miR-155-5p	Proteomics	18668040
MIRT028523	hsa-miR-30a-5p	Proteomics	18668040
MIRT046717	hsa-miR-222-3p	CLASH	23622248
MIRT040760	hsa-miR-18a-3p	CLASH	23622248
MIRT038178	hsa-miR-423-5p	CLASH	23622248
MIRT036312	hsa-miR-1229-3p	CLASH	23622248
MIRT036312	hsa-miR-1229-3p	CLASH	23622248
MIRT162814	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT162814	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT922719	hsa-miR-1197	CLIP-seq
MIRT922720	hsa-miR-1200	CLIP-seq
MIRT922721	hsa-miR-1258	CLIP-seq
MIRT922722	hsa-miR-1269	CLIP-seq
MIRT922723	hsa-miR-1269b	CLIP-seq
MIRT922724	hsa-miR-1288	CLIP-seq
MIRT922725	hsa-miR-1289	CLIP-seq
MIRT922726	hsa-miR-1324	CLIP-seq
MIRT922727	hsa-miR-1827	CLIP-seq
MIRT922728	hsa-miR-204	CLIP-seq
MIRT922729	hsa-miR-211	CLIP-seq
MIRT922730	hsa-miR-2114	CLIP-seq
MIRT922731	hsa-miR-29a	CLIP-seq
MIRT922732	hsa-miR-29b	CLIP-seq
MIRT922733	hsa-miR-29c	CLIP-seq
MIRT922734	hsa-miR-300	CLIP-seq
MIRT922735	hsa-miR-3065-3p	CLIP-seq
MIRT922736	hsa-miR-30a	CLIP-seq
MIRT922737	hsa-miR-30b	CLIP-seq
MIRT922738	hsa-miR-30c	CLIP-seq
MIRT922739	hsa-miR-30d	CLIP-seq
MIRT922740	hsa-miR-30e	CLIP-seq
MIRT922741	hsa-miR-3117-3p	CLIP-seq
MIRT922742	hsa-miR-3138	CLIP-seq
MIRT922743	hsa-miR-3198	CLIP-seq
MIRT922744	hsa-miR-331-5p	CLIP-seq
MIRT922745	hsa-miR-381	CLIP-seq
MIRT922746	hsa-miR-3913-3p	CLIP-seq
MIRT922747	hsa-miR-3918	CLIP-seq
MIRT922748	hsa-miR-4294	CLIP-seq
MIRT922749	hsa-miR-4309	CLIP-seq
MIRT922750	hsa-miR-4318	CLIP-seq
MIRT922751	hsa-miR-432	CLIP-seq
MIRT922752	hsa-miR-4324	CLIP-seq
MIRT922753	hsa-miR-4515	CLIP-seq
MIRT922754	hsa-miR-4649-3p	CLIP-seq
MIRT922755	hsa-miR-4685-5p	CLIP-seq
MIRT922756	hsa-miR-4719	CLIP-seq
MIRT922757	hsa-miR-4733-3p	CLIP-seq
MIRT922758	hsa-miR-4740-5p	CLIP-seq
MIRT922759	hsa-miR-4800-5p	CLIP-seq
MIRT922760	hsa-miR-490-5p	CLIP-seq
MIRT922761	hsa-miR-544b	CLIP-seq
MIRT922762	hsa-miR-548ac	CLIP-seq
MIRT922763	hsa-miR-548ae	CLIP-seq
MIRT922764	hsa-miR-548aj	CLIP-seq
MIRT922765	hsa-miR-548am	CLIP-seq
MIRT922766	hsa-miR-548d-3p	CLIP-seq
MIRT922767	hsa-miR-548x	CLIP-seq
MIRT922768	hsa-miR-548z	CLIP-seq
MIRT922769	hsa-miR-922	CLIP-seq
MIRT922770	hsa-miR-1184	CLIP-seq
MIRT922719	hsa-miR-1197	CLIP-seq
MIRT922771	hsa-miR-122	CLIP-seq
MIRT922721	hsa-miR-1258	CLIP-seq
MIRT922722	hsa-miR-1269	CLIP-seq
MIRT922723	hsa-miR-1269b	CLIP-seq
MIRT922772	hsa-miR-1286	CLIP-seq
MIRT922724	hsa-miR-1288	CLIP-seq
MIRT922773	hsa-miR-1301	CLIP-seq
MIRT922741	hsa-miR-3117-3p	CLIP-seq
MIRT922774	hsa-miR-3122	CLIP-seq
MIRT922742	hsa-miR-3138	CLIP-seq
MIRT922775	hsa-miR-3169	CLIP-seq
MIRT922776	hsa-miR-3170	CLIP-seq
MIRT922777	hsa-miR-342-5p	CLIP-seq
MIRT922778	hsa-miR-3689a-3p	CLIP-seq
MIRT922779	hsa-miR-3689c	CLIP-seq
MIRT922780	hsa-miR-3913-5p	CLIP-seq
MIRT922781	hsa-miR-3919	CLIP-seq
MIRT922782	hsa-miR-3925-3p	CLIP-seq
MIRT922783	hsa-miR-4260	CLIP-seq
MIRT922784	hsa-miR-4267	CLIP-seq
MIRT922785	hsa-miR-4305	CLIP-seq
MIRT922750	hsa-miR-4318	CLIP-seq
MIRT922786	hsa-miR-4508	CLIP-seq
MIRT922753	hsa-miR-4515	CLIP-seq
MIRT922787	hsa-miR-4651	CLIP-seq
MIRT922788	hsa-miR-4660	CLIP-seq
MIRT922789	hsa-miR-4664-5p	CLIP-seq
MIRT922790	hsa-miR-4716-5p	CLIP-seq
MIRT922758	hsa-miR-4740-5p	CLIP-seq
MIRT922791	hsa-miR-4793-5p	CLIP-seq
MIRT922759	hsa-miR-4800-5p	CLIP-seq
MIRT922792	hsa-miR-486-3p	CLIP-seq
MIRT922793	hsa-miR-5047	CLIP-seq
MIRT922794	hsa-miR-587	CLIP-seq
MIRT922795	hsa-miR-608	CLIP-seq
MIRT922796	hsa-miR-766	CLIP-seq
MIRT922770	hsa-miR-1184	CLIP-seq
MIRT922719	hsa-miR-1197	CLIP-seq
MIRT922721	hsa-miR-1258	CLIP-seq
MIRT922722	hsa-miR-1269	CLIP-seq
MIRT922723	hsa-miR-1269b	CLIP-seq
MIRT922772	hsa-miR-1286	CLIP-seq
MIRT922724	hsa-miR-1288	CLIP-seq
MIRT922773	hsa-miR-1301	CLIP-seq
MIRT922741	hsa-miR-3117-3p	CLIP-seq
MIRT922742	hsa-miR-3138	CLIP-seq
MIRT922775	hsa-miR-3169	CLIP-seq
MIRT922777	hsa-miR-342-5p	CLIP-seq
MIRT922797	hsa-miR-345	CLIP-seq
MIRT922798	hsa-miR-3612	CLIP-seq
MIRT922781	hsa-miR-3919	CLIP-seq
MIRT922785	hsa-miR-4305	CLIP-seq
MIRT922750	hsa-miR-4318	CLIP-seq
MIRT922751	hsa-miR-432	CLIP-seq
MIRT922799	hsa-miR-4443	CLIP-seq
MIRT922800	hsa-miR-4452	CLIP-seq
MIRT922786	hsa-miR-4508	CLIP-seq
MIRT922753	hsa-miR-4515	CLIP-seq
MIRT922801	hsa-miR-452	CLIP-seq
MIRT922787	hsa-miR-4651	CLIP-seq
MIRT922788	hsa-miR-4660	CLIP-seq
MIRT922789	hsa-miR-4664-5p	CLIP-seq
MIRT922802	hsa-miR-4676-3p	CLIP-seq
MIRT922803	hsa-miR-4693-5p	CLIP-seq
MIRT922804	hsa-miR-4714-5p	CLIP-seq
MIRT922790	hsa-miR-4716-5p	CLIP-seq
MIRT922757	hsa-miR-4733-3p	CLIP-seq
MIRT922758	hsa-miR-4740-5p	CLIP-seq
MIRT922791	hsa-miR-4793-5p	CLIP-seq
MIRT922759	hsa-miR-4800-5p	CLIP-seq
MIRT922792	hsa-miR-486-3p	CLIP-seq
MIRT922793	hsa-miR-5047	CLIP-seq
MIRT922794	hsa-miR-587	CLIP-seq
MIRT922795	hsa-miR-608	CLIP-seq
MIRT922805	hsa-miR-650	CLIP-seq
MIRT922806	hsa-miR-890	CLIP-seq
MIRT1973343	hsa-miR-2355-5p	CLIP-seq
MIRT922796	hsa-miR-766	CLIP-seq
MIRT922770	hsa-miR-1184	CLIP-seq
MIRT922720	hsa-miR-1200	CLIP-seq
MIRT922771	hsa-miR-122	CLIP-seq
MIRT1973344	hsa-miR-1244	CLIP-seq
MIRT1973345	hsa-miR-125a-3p	CLIP-seq
MIRT922773	hsa-miR-1301	CLIP-seq
MIRT1973346	hsa-miR-137	CLIP-seq
MIRT1973347	hsa-miR-145	CLIP-seq
MIRT922727	hsa-miR-1827	CLIP-seq
MIRT1973348	hsa-miR-1915	CLIP-seq
MIRT1973349	hsa-miR-192	CLIP-seq
MIRT1973350	hsa-miR-1972	CLIP-seq
MIRT1973351	hsa-miR-198	CLIP-seq
MIRT1973352	hsa-miR-199a-3p	CLIP-seq
MIRT1973353	hsa-miR-199b-3p	CLIP-seq
MIRT1973354	hsa-miR-2115	CLIP-seq
MIRT1973355	hsa-miR-215	CLIP-seq
MIRT1973356	hsa-miR-216a	CLIP-seq
MIRT1973357	hsa-miR-216b	CLIP-seq
MIRT1973358	hsa-miR-223	CLIP-seq
MIRT1973343	hsa-miR-2355-5p	CLIP-seq
MIRT922731	hsa-miR-29a	CLIP-seq
MIRT922732	hsa-miR-29b	CLIP-seq
MIRT922733	hsa-miR-29c	CLIP-seq
MIRT922735	hsa-miR-3065-3p	CLIP-seq
MIRT1973359	hsa-miR-3128	CLIP-seq
MIRT1973360	hsa-miR-3129-5p	CLIP-seq
MIRT1973361	hsa-miR-3161	CLIP-seq
MIRT1973362	hsa-miR-3180-5p	CLIP-seq
MIRT1973363	hsa-miR-3199	CLIP-seq
MIRT1973364	hsa-miR-323-3p	CLIP-seq
MIRT1973365	hsa-miR-330-3p	CLIP-seq
MIRT1973366	hsa-miR-331-3p	CLIP-seq
MIRT1973367	hsa-miR-3620	CLIP-seq
MIRT922781	hsa-miR-3919	CLIP-seq
MIRT922782	hsa-miR-3925-3p	CLIP-seq
MIRT1973368	hsa-miR-3934	CLIP-seq
MIRT922784	hsa-miR-4267	CLIP-seq
MIRT1973369	hsa-miR-4270	CLIP-seq
MIRT1973370	hsa-miR-4302	CLIP-seq
MIRT922785	hsa-miR-4305	CLIP-seq
MIRT1973371	hsa-miR-4313	CLIP-seq
MIRT922752	hsa-miR-4324	CLIP-seq
MIRT1973372	hsa-miR-4441	CLIP-seq
MIRT922753	hsa-miR-4515	CLIP-seq
MIRT922801	hsa-miR-452	CLIP-seq
MIRT1973373	hsa-miR-4632	CLIP-seq
MIRT1973374	hsa-miR-4640-5p	CLIP-seq
MIRT1973375	hsa-miR-4645-5p	CLIP-seq
MIRT922754	hsa-miR-4649-3p	CLIP-seq
MIRT1973376	hsa-miR-4650-5p	CLIP-seq
MIRT922788	hsa-miR-4660	CLIP-seq
MIRT1973377	hsa-miR-4667-3p	CLIP-seq
MIRT1973378	hsa-miR-4673	CLIP-seq
MIRT922802	hsa-miR-4676-3p	CLIP-seq
MIRT922803	hsa-miR-4693-5p	CLIP-seq
MIRT1973379	hsa-miR-4697-3p	CLIP-seq
MIRT1973380	hsa-miR-4705	CLIP-seq
MIRT1973381	hsa-miR-4712-5p	CLIP-seq
MIRT922790	hsa-miR-4716-5p	CLIP-seq
MIRT1973382	hsa-miR-4726-3p	CLIP-seq
MIRT1973383	hsa-miR-4726-5p	CLIP-seq
MIRT922757	hsa-miR-4733-3p	CLIP-seq
MIRT1973384	hsa-miR-4766-3p	CLIP-seq
MIRT1973385	hsa-miR-4778-5p	CLIP-seq
MIRT1973386	hsa-miR-4783-3p	CLIP-seq
MIRT922791	hsa-miR-4793-5p	CLIP-seq
MIRT922793	hsa-miR-5047	CLIP-seq
MIRT1973387	hsa-miR-518a-5p	CLIP-seq
MIRT1973388	hsa-miR-527	CLIP-seq
MIRT1973389	hsa-miR-541	CLIP-seq
MIRT922761	hsa-miR-544b	CLIP-seq
MIRT922763	hsa-miR-548ae	CLIP-seq
MIRT922764	hsa-miR-548aj	CLIP-seq
MIRT922765	hsa-miR-548am	CLIP-seq
MIRT1973390	hsa-miR-548an	CLIP-seq
MIRT1973391	hsa-miR-548n	CLIP-seq
MIRT1973392	hsa-miR-548p	CLIP-seq
MIRT922767	hsa-miR-548x	CLIP-seq
MIRT922794	hsa-miR-587	CLIP-seq
MIRT1973393	hsa-miR-592	CLIP-seq
MIRT1973394	hsa-miR-597	CLIP-seq
MIRT1973395	hsa-miR-654-5p	CLIP-seq
MIRT1973396	hsa-miR-661	CLIP-seq
MIRT1973397	hsa-miR-764	CLIP-seq
MIRT1973398	hsa-miR-770-5p	CLIP-seq
MIRT2208925	hsa-miR-101	CLIP-seq
MIRT2208926	hsa-miR-10a	CLIP-seq
MIRT2208927	hsa-miR-10b	CLIP-seq
MIRT922770	hsa-miR-1184	CLIP-seq
MIRT922719	hsa-miR-1197	CLIP-seq
MIRT2208928	hsa-miR-1205	CLIP-seq
MIRT922771	hsa-miR-122	CLIP-seq
MIRT2208929	hsa-miR-1225-3p	CLIP-seq
MIRT2208930	hsa-miR-1226	CLIP-seq
MIRT2208931	hsa-miR-1229	CLIP-seq
MIRT2208932	hsa-miR-1233	CLIP-seq
MIRT1973344	hsa-miR-1244	CLIP-seq
MIRT1973345	hsa-miR-125a-3p	CLIP-seq
MIRT922722	hsa-miR-1269	CLIP-seq
MIRT922723	hsa-miR-1269b	CLIP-seq
MIRT2208933	hsa-miR-1275	CLIP-seq
MIRT922772	hsa-miR-1286	CLIP-seq
MIRT922724	hsa-miR-1288	CLIP-seq
MIRT2208934	hsa-miR-129-5p	CLIP-seq
MIRT922773	hsa-miR-1301	CLIP-seq
MIRT2208935	hsa-miR-1587	CLIP-seq
MIRT2208936	hsa-miR-197	CLIP-seq
MIRT1973350	hsa-miR-1972	CLIP-seq
MIRT1973352	hsa-miR-199a-3p	CLIP-seq
MIRT1973353	hsa-miR-199b-3p	CLIP-seq
MIRT2208937	hsa-miR-21	CLIP-seq
MIRT1973356	hsa-miR-216a	CLIP-seq
MIRT1973357	hsa-miR-216b	CLIP-seq
MIRT1973343	hsa-miR-2355-5p	CLIP-seq
MIRT2208938	hsa-miR-2964a-5p	CLIP-seq
MIRT2208939	hsa-miR-298	CLIP-seq
MIRT1973360	hsa-miR-3129-5p	CLIP-seq
MIRT2208940	hsa-miR-3136-3p	CLIP-seq
MIRT922742	hsa-miR-3138	CLIP-seq
MIRT2208941	hsa-miR-3156-3p	CLIP-seq
MIRT2208942	hsa-miR-3157-3p	CLIP-seq
MIRT2208943	hsa-miR-3158-5p	CLIP-seq
MIRT2208944	hsa-miR-3162-3p	CLIP-seq
MIRT922775	hsa-miR-3169	CLIP-seq
MIRT2208945	hsa-miR-3177-5p	CLIP-seq
MIRT2208946	hsa-miR-3192	CLIP-seq
MIRT1973363	hsa-miR-3199	CLIP-seq
MIRT922777	hsa-miR-342-5p	CLIP-seq
MIRT922797	hsa-miR-345	CLIP-seq
MIRT2208947	hsa-miR-3545-5p	CLIP-seq
MIRT922798	hsa-miR-3612	CLIP-seq
MIRT2208948	hsa-miR-361-3p	CLIP-seq
MIRT1973367	hsa-miR-3620	CLIP-seq
MIRT2208949	hsa-miR-3646	CLIP-seq
MIRT2208950	hsa-miR-3652	CLIP-seq
MIRT2208951	hsa-miR-3659	CLIP-seq
MIRT2208952	hsa-miR-3667-5p	CLIP-seq
MIRT2208953	hsa-miR-3677-3p	CLIP-seq
MIRT922781	hsa-miR-3919	CLIP-seq
MIRT2208954	hsa-miR-3922-5p	CLIP-seq
MIRT922782	hsa-miR-3925-3p	CLIP-seq
MIRT1973368	hsa-miR-3934	CLIP-seq
MIRT2208955	hsa-miR-3974	CLIP-seq
MIRT2208956	hsa-miR-412	CLIP-seq
MIRT2208957	hsa-miR-4259	CLIP-seq
MIRT2208958	hsa-miR-4280	CLIP-seq
MIRT2208959	hsa-miR-4286	CLIP-seq
MIRT2208960	hsa-miR-4292	CLIP-seq
MIRT2208961	hsa-miR-4300	CLIP-seq
MIRT2208962	hsa-miR-4301	CLIP-seq
MIRT922785	hsa-miR-4305	CLIP-seq
MIRT922750	hsa-miR-4318	CLIP-seq
MIRT922751	hsa-miR-432	CLIP-seq
MIRT2208963	hsa-miR-4430	CLIP-seq
MIRT2208964	hsa-miR-4440	CLIP-seq
MIRT922799	hsa-miR-4443	CLIP-seq
MIRT2208965	hsa-miR-4450	CLIP-seq
MIRT2208966	hsa-miR-4488	CLIP-seq
MIRT2208967	hsa-miR-4492	CLIP-seq
MIRT2208968	hsa-miR-4498	CLIP-seq
MIRT922786	hsa-miR-4508	CLIP-seq
MIRT922753	hsa-miR-4515	CLIP-seq
MIRT922801	hsa-miR-452	CLIP-seq
MIRT2208969	hsa-miR-4527	CLIP-seq
MIRT1973374	hsa-miR-4640-5p	CLIP-seq
MIRT1973375	hsa-miR-4645-5p	CLIP-seq
MIRT1973376	hsa-miR-4650-5p	CLIP-seq
MIRT922787	hsa-miR-4651	CLIP-seq
MIRT2208970	hsa-miR-4656	CLIP-seq
MIRT2208971	hsa-miR-4658	CLIP-seq
MIRT922788	hsa-miR-4660	CLIP-seq
MIRT922789	hsa-miR-4664-5p	CLIP-seq
MIRT2208972	hsa-miR-4665-5p	CLIP-seq
MIRT1973377	hsa-miR-4667-3p	CLIP-seq
MIRT1973378	hsa-miR-4673	CLIP-seq
MIRT2208973	hsa-miR-4675	CLIP-seq
MIRT922802	hsa-miR-4676-3p	CLIP-seq
MIRT2208974	hsa-miR-4691-3p	CLIP-seq
MIRT922803	hsa-miR-4693-5p	CLIP-seq
MIRT2208975	hsa-miR-4697-5p	CLIP-seq
MIRT2208976	hsa-miR-4698	CLIP-seq
MIRT2208977	hsa-miR-4704-3p	CLIP-seq
MIRT922804	hsa-miR-4714-5p	CLIP-seq
MIRT922790	hsa-miR-4716-5p	CLIP-seq
MIRT2208978	hsa-miR-4717-5p	CLIP-seq
MIRT1973383	hsa-miR-4726-5p	CLIP-seq
MIRT922757	hsa-miR-4733-3p	CLIP-seq
MIRT922758	hsa-miR-4740-5p	CLIP-seq
MIRT2208979	hsa-miR-4741	CLIP-seq
MIRT1973386	hsa-miR-4783-3p	CLIP-seq
MIRT922791	hsa-miR-4793-5p	CLIP-seq
MIRT2208980	hsa-miR-4795-5p	CLIP-seq
MIRT922759	hsa-miR-4800-5p	CLIP-seq
MIRT2208981	hsa-miR-4802-3p	CLIP-seq
MIRT2208982	hsa-miR-483-3p	CLIP-seq
MIRT922792	hsa-miR-486-3p	CLIP-seq
MIRT2208983	hsa-miR-491-5p	CLIP-seq
MIRT2208984	hsa-miR-494	CLIP-seq
MIRT922793	hsa-miR-5047	CLIP-seq
MIRT1973387	hsa-miR-518a-5p	CLIP-seq
MIRT1973388	hsa-miR-527	CLIP-seq
MIRT1973389	hsa-miR-541	CLIP-seq
MIRT1973390	hsa-miR-548an	CLIP-seq
MIRT2208985	hsa-miR-570	CLIP-seq
MIRT2208986	hsa-miR-574-5p	CLIP-seq
MIRT2208987	hsa-miR-582-5p	CLIP-seq
MIRT922794	hsa-miR-587	CLIP-seq
MIRT2208988	hsa-miR-590-5p	CLIP-seq
MIRT922795	hsa-miR-608	CLIP-seq
MIRT922805	hsa-miR-650	CLIP-seq
MIRT1973395	hsa-miR-654-5p	CLIP-seq
MIRT1973396	hsa-miR-661	CLIP-seq
MIRT2208989	hsa-miR-760	CLIP-seq
MIRT2208990	hsa-miR-762	CLIP-seq
MIRT1973397	hsa-miR-764	CLIP-seq
MIRT922796	hsa-miR-766	CLIP-seq
MIRT922806	hsa-miR-890	CLIP-seq
MIRT2208991	hsa-miR-920	CLIP-seq
MIRT2208940	hsa-miR-3136-3p	CLIP-seq
MIRT922782	hsa-miR-3925-3p	CLIP-seq
MIRT922796	hsa-miR-766	CLIP-seq
MIRT922770	hsa-miR-1184	CLIP-seq
MIRT2512779	hsa-miR-1178	CLIP-seq
MIRT922720	hsa-miR-1200	CLIP-seq
MIRT2512780	hsa-miR-1207-5p	CLIP-seq
MIRT2208929	hsa-miR-1225-3p	CLIP-seq
MIRT2208932	hsa-miR-1233	CLIP-seq
MIRT2512781	hsa-miR-1281	CLIP-seq
MIRT2512782	hsa-miR-1285	CLIP-seq
MIRT2512783	hsa-miR-1291	CLIP-seq
MIRT2512784	hsa-miR-132	CLIP-seq
MIRT2512785	hsa-miR-135a	CLIP-seq
MIRT2512786	hsa-miR-135b	CLIP-seq
MIRT1973347	hsa-miR-145	CLIP-seq
MIRT2512787	hsa-miR-146b-3p	CLIP-seq
MIRT922727	hsa-miR-1827	CLIP-seq
MIRT2512788	hsa-miR-183	CLIP-seq
MIRT2512789	hsa-miR-1909	CLIP-seq
MIRT2512790	hsa-miR-1911	CLIP-seq
MIRT1973350	hsa-miR-1972	CLIP-seq
MIRT2512791	hsa-miR-212	CLIP-seq
MIRT2512792	hsa-miR-2276	CLIP-seq
MIRT2512793	hsa-miR-296-5p	CLIP-seq
MIRT2512794	hsa-miR-3144-5p	CLIP-seq
MIRT2512795	hsa-miR-3155	CLIP-seq
MIRT2512796	hsa-miR-3155b	CLIP-seq
MIRT2512797	hsa-miR-3165	CLIP-seq
MIRT2512798	hsa-miR-3175	CLIP-seq
MIRT2512799	hsa-miR-3184	CLIP-seq
MIRT2512800	hsa-miR-3187-5p	CLIP-seq
MIRT2512801	hsa-miR-3189-5p	CLIP-seq
MIRT2512802	hsa-miR-3191	CLIP-seq
MIRT2512803	hsa-miR-3194-5p	CLIP-seq
MIRT1973363	hsa-miR-3199	CLIP-seq
MIRT1973366	hsa-miR-331-3p	CLIP-seq
MIRT2512804	hsa-miR-34a	CLIP-seq
MIRT2512805	hsa-miR-34c-5p	CLIP-seq
MIRT2208948	hsa-miR-361-3p	CLIP-seq
MIRT2512806	hsa-miR-371b-3p	CLIP-seq
MIRT2512807	hsa-miR-378g	CLIP-seq
MIRT922782	hsa-miR-3925-3p	CLIP-seq
MIRT2512808	hsa-miR-4290	CLIP-seq
MIRT2208960	hsa-miR-4292	CLIP-seq
MIRT2512809	hsa-miR-4314	CLIP-seq
MIRT922752	hsa-miR-4324	CLIP-seq
MIRT2512810	hsa-miR-4434	CLIP-seq
MIRT2512811	hsa-miR-4438	CLIP-seq
MIRT2512812	hsa-miR-4486	CLIP-seq
MIRT2208967	hsa-miR-4492	CLIP-seq
MIRT2208968	hsa-miR-4498	CLIP-seq
MIRT2512813	hsa-miR-449a	CLIP-seq
MIRT2512814	hsa-miR-449b	CLIP-seq
MIRT2512815	hsa-miR-4505	CLIP-seq
MIRT922753	hsa-miR-4515	CLIP-seq
MIRT2512816	hsa-miR-4516	CLIP-seq
MIRT2512817	hsa-miR-4640-3p	CLIP-seq
MIRT1973374	hsa-miR-4640-5p	CLIP-seq
MIRT2512818	hsa-miR-4648	CLIP-seq
MIRT922754	hsa-miR-4649-3p	CLIP-seq
MIRT2512819	hsa-miR-4652-5p	CLIP-seq
MIRT2512820	hsa-miR-4654	CLIP-seq
MIRT1973377	hsa-miR-4667-3p	CLIP-seq
MIRT2512821	hsa-miR-4667-5p	CLIP-seq
MIRT2512822	hsa-miR-4687-5p	CLIP-seq
MIRT2512823	hsa-miR-4688	CLIP-seq
MIRT2208974	hsa-miR-4691-3p	CLIP-seq
MIRT2512824	hsa-miR-4700-5p	CLIP-seq
MIRT922756	hsa-miR-4719	CLIP-seq
MIRT1973383	hsa-miR-4726-5p	CLIP-seq
MIRT2512825	hsa-miR-4758-3p	CLIP-seq
MIRT2512826	hsa-miR-4763-3p	CLIP-seq
MIRT2512827	hsa-miR-4769-5p	CLIP-seq
MIRT2512828	hsa-miR-4772-3p	CLIP-seq
MIRT2208982	hsa-miR-483-3p	CLIP-seq
MIRT2512829	hsa-miR-484	CLIP-seq
MIRT922792	hsa-miR-486-3p	CLIP-seq
MIRT2512830	hsa-miR-508-5p	CLIP-seq
MIRT2512831	hsa-miR-5095	CLIP-seq
MIRT2512832	hsa-miR-520a-5p	CLIP-seq
MIRT2512833	hsa-miR-525-5p	CLIP-seq
MIRT922761	hsa-miR-544b	CLIP-seq
MIRT2512834	hsa-miR-593	CLIP-seq
MIRT2512835	hsa-miR-612	CLIP-seq
MIRT2512836	hsa-miR-634	CLIP-seq
MIRT2208990	hsa-miR-762	CLIP-seq
MIRT2512837	hsa-miR-767-3p	CLIP-seq
MIRT2512838	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001618	Function	Virus receptor activity	IDA	22156524
GO:0001618	Function	Virus receptor activity	IEA
GO:0001954	Process	Positive regulation of cell-matrix adhesion	IEA
GO:0002009	Process	Morphogenesis of an epithelium	IBA
GO:0002011	Process	Morphogenesis of an epithelial sheet	IEA
GO:0002162	Function	Dystroglycan binding	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003779	Function	Actin binding	IDA	18341635
GO:0004252	Function	Serine-type endopeptidase activity	EXP	17905726
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	9417121, 10767429, 10988290, 11495720, 12592373, 17474147, 18341635, 19109891, 23940118, 30914516
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IBA
GO:0005604	Component	Basement membrane	IDA	19348877
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	18201566
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	18764929
GO:0005654	Component	Nucleoplasm	IEA
GO:0005737	Component	Cytoplasm	IDA	18764929
GO:0005737	Component	Cytoplasm	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA	8017170, 18341635, 18764929
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005925	Component	Focal adhesion	IDA	18341635
GO:0005925	Component	Focal adhesion	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IDA	19946898
GO:0007411	Process	Axon guidance	IBA
GO:0007507	Process	Heart development	IEA
GO:0008307	Function	Structural constituent of muscle	IMP	18691338
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IEA
GO:0014037	Process	Schwann cell differentiation	IEA
GO:0014044	Process	Schwann cell development	IEA
GO:0014850	Process	Response to muscle activity	IEA
GO:0014894	Process	Response to denervation involved in regulation of muscle adaptation	IEA
GO:0015031	Process	Protein transport	IEA
GO:0015631	Function	Tubulin binding	IDA	18341635
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IDA	17993586
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IEA
GO:0016011	Component	Dystroglycan complex	IBA
GO:0016011	Component	Dystroglycan complex	IEA
GO:0016020	Component	Membrane	IDA	17628813
GO:0016020	Component	Membrane	IEA
GO:0016203	Process	Muscle attachment	IBA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016340	Process	Calcium-dependent cell-matrix adhesion	IEA
GO:0017166	Function	Vinculin binding	IPI	18341635
GO:0021675	Process	Nerve development	IBA
GO:0021675	Process	Nerve development	IEA
GO:0021682	Process	Nerve maturation	IEA
GO:0022011	Process	Myelination in peripheral nervous system	IEA
GO:0030027	Component	Lamellipodium	IDA	18341635
GO:0030175	Component	Filopodium	IDA	18341635
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0030336	Process	Negative regulation of cell migration	IMP	19587235
GO:0031012	Component	Extracellular matrix	HDA	27559042
GO:0031103	Process	Axon regeneration	IEA
GO:0031643	Process	Positive regulation of myelination	IEA
GO:0033268	Component	Node of Ranvier	IEA
GO:0034399	Component	Nuclear periphery	IEA
GO:0034453	Process	Microtubule anchoring	IMP	18341635
GO:0042169	Function	SH2 domain binding	IDA	11724572
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IEA
GO:0043034	Component	Costamere	IEA
GO:0043236	Function	Laminin binding	IBA
GO:0043236	Function	Laminin binding	IEA
GO:0043237	Function	Laminin-1 binding	IEA
GO:0043237	Function	Laminin-1 binding	ISS
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0043409	Process	Negative regulation of MAPK cascade	IMP	19587235
GO:0043434	Process	Response to peptide hormone	IEA
GO:0044853	Component	Plasma membrane raft	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	IEA
GO:0050807	Process	Regulation of synapse organization	IEA
GO:0051393	Function	Alpha-actinin binding	IDA	18341635
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	19587235
GO:0060055	Process	Angiogenesis involved in wound healing	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060445	Process	Branching involved in salivary gland morphogenesis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145
GO:0070938	Component	Contractile ring	IDA	18341635
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071397	Process	Cellular response to cholesterol	IEA
GO:0071679	Process	Commissural neuron axon guidance	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0071711	Process	Basement membrane organization	IMP	23940118
GO:0098684	Component	Photoreceptor ribbon synapse	IEA
GO:0098696	Process	Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098942	Process	Retrograde trans-synaptic signaling by trans-synaptic protein complex	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA

Other IDs

• MIM: 128239
• HGNC: 2666
• e!Ensembl: ENSG00000173402

Protein

• UniProt ID: Q14118
• Protein name: Dystroglycan 1 (Dystroglycan) (Dystrophin-associated glycoprotein 1) [Cleaved into: Alpha-dystroglycan (Alpha-DG); Beta-dystroglycan (Beta-DG)]
• Protein function: The dystroglycan complex is involved in a number of processes including laminin and basement membrane assembly, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, and epithelial polarization.; FU
• PDB: 1EG4, 2MK7, 5GGP, 5LLK, 6JJY, 7E9K, 7E9L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05345	He_PIG	61 → 156		Domain
  PF18424	a_DG1_N2	182 → 304	Alpha-Dystroglycan N-terminal domain 2	Domain
  PF05454	DAG1	606 → 895	Dystroglycan (Dystrophin-associated glycoprotein 1)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in a variety of fetal and adult tissues. In epidermal tissue, located to the basement membrane. Also expressed in keratinocytes and fibroblasts. {ECO:0000269|PubMed:15175026, ECO:0000269|PubMed:8268918}.
• Sequence:

  MRMSVGLSLLLPLSGRTFLLLLSVVMAQSHWPSEPSEAVRDWENQLEASMHSVLSDLHEA
  VPTVVGIPDGTAVVGRSFRVTIPTDLIASSGDIIKVSAAGKEALPSWLHWDSQSHTLEGL
  PLDTDKGVHYISVSATRLGANGSHIPQTSSVFSIEVYPEDHSELQSVRTASPDPGEVVSS
  ACAADEPVTVLTVILDADLTKMTPKQRIDLLHRMRSFSEVELHNMKLVPVVNNRLFDMSA
  FMAGPGNAKKVVENGALLSWKLGCSLNQNSVPDIHGVEAPAREGAMSAQLGYPVVGWHIA
  NKKPPLPKRVRRQIHATPTPVTAIGPPTTAIQEPPSRIVPTPTSPAIAPPTETMAPPVRD
  PVPGKPTVTIRTRGAIIQTPTLGPIQPTRVSEAGTTVPGQIRPTMTIPGYVEPTAVATPP
  TTTTKKPRVSTPKPATPSTDSTTTTTRRPTKKPRTPRPVPRVTTKVSITRLETASPPTRI
  RTTTSGVPRGGEPNQRPELKNHIDRVDAWVGTYFEVKIPSDTFYDHEDTTTDKLKLTLKL
  REQQLVGEKSWVQFNSNSQLMYGLPDSSHVGKHEYFMHATDKGGLSAVDAFEIHVHRRPQ
  GDRAPARFKAKFVGDPALVLNDIHKKIALVKKLAFAFGDRNCSTITLQNITRGSIVVEWT
  NNTLPLEPCPKEQIAGLSRRIAEDDGKPRPAFSNALEPDFKATSITVTGSGSCRHLQFIP
  VVPPRRVPSEAPPTEVPDRDPEKSSEDDVYLHTVIPAVVVAAILLIAGIIAMICYRKKRK
  GKLTLEDQATFIKKGVPIIFADELDDSKPPPSSSMPLILQEEKAPLPPPEYPNQSVPETT
  PLNQDTMGEYTPLRDEDPNAPPYQPPPPFTAPMEGKGSRPKNMTPYRSPPPYVPP

• Sequence length: 895

Pathways

KEGG:

Virion - Lassa virus and SFTS virus
ECM-receptor interaction
Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis

Reactome:

ECM proteoglycans
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
O-linked glycosylation
Regulation of expression of SLITs and ROBOs

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
Autosomal recessive limb-girdle muscular dystrophy type 2P	Pathogenic; Likely pathogenic	rs2131107, rs2472606199, rs2472165392, rs1553652513, rs1553652503, rs1334656238, rs2050744878, rs2051320206	RCV001386974 RCV002288356 RCV004527565 RCV000533805 RCV000648792 RCV000810927 RCV001045353 RCV001232180	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Elevated circulating creatine kinase concentration	Likely pathogenic	rs2107929323	RCV002254532	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	Pathogenic; Likely pathogenic	rs2131107, rs869320680, rs1553652513, rs1553652503, rs1334656238, rs2050744878, rs2051320206	RCV001386974 RCV000190548 RCV000533805 RCV000648792 RCV000810927 RCV001045353 RCV001232180	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs2131107	RCV005912648	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2131107	RCV005912649	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2P	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHOPULMONARY DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DAG1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCLE EYE BRAIN DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCLE EYE BRAIN DISEASE WITH BILATERAL MULTICYSTIC LEUKODYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCLE-EYE-BRAIN DISEASE WITH BILATERAL MULTICYSTIC LEUCODYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOSITIS, INCLUSION BODY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WALKER-WARBURG CONGENITAL MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WALKER-WARBURG SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	24077328, 28980742		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	15833425		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agyria	Agyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	Muscular Dystrophy-Dystroglycanopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
alpha-Dystroglycanopathies	alpha-Dystroglycanopathy	BEFREE	17869517, 19138766, 19576565, 24657014		★☆☆☆☆ Found in Text Mining only
alpha-Dystroglycanopathies	alpha-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	21255062		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	20338590		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	20234391	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16996521		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23457522		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16996521		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	22102647, 30553274, 8990133		★☆☆☆☆ Found in Text Mining only
BETHLEM MYOPATHY 1	Bethlem Myopathy	BEFREE	19330236		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	16575202		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12598319, 15467432, 18764929		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12598319	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17640712, 33500458	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	17196572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	17584082, 17869517, 18513969, 18602826, 22522421		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	26220087		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26637171	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18087214, 20626751, 26220087	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	19797173, 9441825		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	22242004	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	12920582		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	22242004		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	18087214		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone Lissencephaly	BEFREE	22626542		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22964035		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	12598319		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22964035	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of brain	Brain malformation	BEFREE	12893968, 19633331, 24084573, 24556084, 31566294		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	20816173		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	11592034, 12966029, 14646163, 15213246, 15833426, 16386759, 16476814, 16496270, 17416431, 17584082, 17869517, 18330676, 18513969, 18602826, 18640039, 19633331, 22522421, 23115008, 23453667, 24052401, 27915985, 28480302, 28760865, 28803818, 29855340, 30017359		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	GENOMICS_ENGLAND_DG	30055862		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	19797173		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18087214, 26220087		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	29360985		★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	17584082, 17869517, 18513969, 18602826, 22522421		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	18587394		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	16476814		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30120299		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	30120299	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	15833425		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	16996521		★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	29735719		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29137235		★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	25941323		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31297048		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37014625	Associate	★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	11445638, 12424008, 12893968, 12925572, 15213246, 15351084, 16466646, 17036286, 18830929, 19330236, 20199207, 21726969, 25198651		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31463571		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31463571		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	19797173		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	26979459	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus Normal Pressure	Normal pressure hydrocephalus	Pubtator	34360799	Associate	★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	20663583		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	21388311, 27915985, 30838779, 31829939		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	14678799, 22626542		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	20234391	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28591567		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28591567		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	24052401, 29134705		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	23793931		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26294277		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29942085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	12424008, 12707004		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12598319, 15467432		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29137235		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	21884196		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20338590		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23223448, 23359570, 24077328		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	24629698		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12598319, 15467432, 15920757, 18087214, 23115008, 23223448, 28572004		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12598319, 22964035		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12592373		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	17640712		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	17640712	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	14678799, 22626542		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30724038		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	15792865		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Muscle eye brain disease	Muscle Eye Brain Disease	BEFREE	12140558, 12424008, 12925572, 20234391, 21296866, 21361872, 21625620, 24052401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle eye brain disease	Muscle Eye Brain Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle-eye-brain disease with bilateral multicystic leucodystrophy	Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	11001938, 12678490, 14678799, 15043707, 17952692, 18769252, 19017726, 21388311, 22771323, 23768512, 24035193, 26574668, 28479227, 28803818, 29034878, 29273094, 29437916, 30257713, 8776597, 8894415		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG	30055862		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	12091319, 12140558, 12424008, 12678490, 12893968, 12925572, 14587215, 14678799, 14742274, 14742276, 15184894, 15229394, 15367856, 15868406, 16112887, 17044012, 17215867, 17416431, 17584082, 17878207, 17923109, 18490429, 18691338, 19017726, 19067344, 19299310, 19396839, 19576565, 19797173, 20065251, 20234391, 20620061, 20682766, 20816173, 21256839, 21265799, 21317159, 21397493, 21727005, 21862561, 21996799, 22727687, 23359570, 23453855, 23591631, 23746544, 23911074, 24002165, 24132234, 24925318, 25198651, 25381372, 26310427, 26380289, 28190459, 28572004, 28760865, 28803818, 28821434, 29134705, 29437916, 29477842, 29635000, 29855340, 30530204, 30553274, 30578246, 31297048, 31391079, 31566294, 31627234, 31829939, 31843448		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	LHGDN	12140558, 18939472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	36233175	Associate	★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, 1C	Congenital Muscular Dystrophy	BEFREE	11741828, 16476814		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	15175275, 15833425, 16443396, 17584082, 24302611, 30553274, 7592992, 8817332, 8990133, 9188790		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I	Limb-girdle muscular dystrophy	BEFREE	16288869		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K	Limb-girdle muscular dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1	Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies	GENOMICS_ENGLAND_DG	22810924, 24052401, 25529582		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies	UNIPROT_DG	24052401, 25934851		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies	CLINVAR_DG	25934851		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	ORPHANET_DG	14678799, 21388311		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	GENOMICS_ENGLAND_DG	21388311, 24052401, 25529582, 30055862		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	UNIPROT_DG	21388311, 25503980		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG	25934851		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	BEFREE	30450679		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	17597306		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	12707004, 15367856, 15833425, 18818079, 19633331, 19679478, 20234391, 24144914		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	16386759		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12598319, 15467432, 16929173, 17258375, 18087214, 21255062, 21884196, 24077328		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	17640712	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27212206, 30961548		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	14587215, 18602826, 20234391		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	20234391	Associate	★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	15694140, 16112887, 30990900		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25609655, 29246284		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	23359570		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20338590		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	20338590		★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	BEFREE	17597306		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	8188645		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	8188645		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	15833425		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	28030367		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30120299		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17516554, 23223448, 23359570, 24077328		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17516554		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24077328	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18087214		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	17640712	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	31054580		★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	15833425, 28821434, 30553274		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	12966029		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17258375, 18487074		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	17258375		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21695587	Associate	★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Dysplasia	Uterine disease	Pubtator	36768853	Associate	★☆☆☆☆ Found in Text Mining only
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	BEFREE	12757935, 12788039, 12925572, 15792865, 15894594, 18640039, 18923033, 19576565, 20234391, 21296866, 21625620, 22522420, 22522421, 22958903, 23288328, 23359570, 24120487, 25934851, 29273094, 9492098		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	GENOMICS_ENGLAND_DG	22810924, 25529582		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	ORPHANET_DG	25934851		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg syndrome	Walker-Warburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations