ATP6V0A2 (ATPase H+ transporting V0 subunit a2)

Gene

• Entrez ID: 23545
• Gene name: ATPase H+ transporting V0 subunit a2
• Gene symbol: ATP6V0A2
• Synonyms (NCBI Gene): A2, ARCL, ARCL2A, ATP6A2, ATP6N1D, J6B7, RTF, STV1, TJ6, TJ6M, TJ6S, VPH1, WSS, a2V
• Chromosome: 12
• Chromosome location: 12q24.31
• Summary: The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80356753	A>G	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs80356754	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs80356755	G>T	Pathogenic	Coding sequence variant, stop gained
rs80356756	A>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs80356758	C>T	Pathogenic	Coding sequence variant, stop gained
rs138716143	G>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant
rs138886791	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139680786	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs142454880	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs143142641	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs146156426	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs146967928	A>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150508296	T>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs189175284	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs367543007	CA>-	Pathogenic	Intron variant, splice acceptor variant
rs374480381	G>A	Pathogenic	Splice donor variant
rs398124257	T>C	Pathogenic	Genic upstream transcript variant, splice donor variant, upstream transcript variant
rs745590426	->C	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1566294545	GGCGTCT>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT672124	hsa-miR-6895-5p	HITS-CLIP	23824327
MIRT677125	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT458184	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT672123	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672122	hsa-miR-4284	HITS-CLIP	23824327
MIRT672120	hsa-miR-4640-5p	HITS-CLIP	23824327
MIRT672119	hsa-miR-4726-5p	HITS-CLIP	23824327
MIRT672118	hsa-miR-7977	HITS-CLIP	23824327
MIRT672117	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT672124	hsa-miR-6895-5p	HITS-CLIP	23824327
MIRT458184	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT672123	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672122	hsa-miR-4284	HITS-CLIP	23824327
MIRT672121	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672120	hsa-miR-4640-5p	HITS-CLIP	23824327
MIRT672119	hsa-miR-4726-5p	HITS-CLIP	23824327
MIRT672118	hsa-miR-7977	HITS-CLIP	23824327
MIRT672117	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT572984	hsa-miR-1183	PAR-CLIP	20371350
MIRT572983	hsa-miR-4754	PAR-CLIP	20371350
MIRT458202	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT458201	hsa-miR-302f	PAR-CLIP	23592263
MIRT458200	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT458199	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT458198	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT458197	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT458196	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT458195	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT458194	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT458193	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT458192	hsa-miR-4761-3p	PAR-CLIP	23592263
MIRT458191	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT458189	hsa-miR-4459	PAR-CLIP	23592263
MIRT458190	hsa-miR-665	PAR-CLIP	23592263
MIRT458188	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458187	hsa-miR-302a-5p	PAR-CLIP	23592263
MIRT458186	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT458185	hsa-miR-1827	PAR-CLIP	23592263
MIRT458184	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT458183	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT458182	hsa-miR-4804-3p	PAR-CLIP	23592263
MIRT458181	hsa-miR-4720-3p	PAR-CLIP	23592263
MIRT458180	hsa-miR-3612	PAR-CLIP	23592263
MIRT458179	hsa-miR-650	PAR-CLIP	23592263
MIRT458178	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT458185	hsa-miR-1827	PAR-CLIP	27292025
MIRT458185	hsa-miR-1827	PAR-CLIP	27292025
MIRT458199	hsa-miR-1910-3p	PAR-CLIP	27292025
MIRT458199	hsa-miR-1910-3p	PAR-CLIP	27292025
MIRT458184	hsa-miR-2467-3p	PAR-CLIP	27292025
MIRT458184	hsa-miR-2467-3p	PAR-CLIP	27292025
MIRT458187	hsa-miR-302a-5p	PAR-CLIP	27292025
MIRT458187	hsa-miR-302a-5p	PAR-CLIP	27292025
MIRT458180	hsa-miR-3612	PAR-CLIP	27292025
MIRT458180	hsa-miR-3612	PAR-CLIP	27292025
MIRT458189	hsa-miR-4459	PAR-CLIP	27292025
MIRT458200	hsa-miR-4695-5p	PAR-CLIP	27292025
MIRT458200	hsa-miR-4695-5p	PAR-CLIP	27292025
MIRT458181	hsa-miR-4720-3p	PAR-CLIP	27292025
MIRT458181	hsa-miR-4720-3p	PAR-CLIP	27292025
MIRT458182	hsa-miR-4804-3p	PAR-CLIP	27292025
MIRT458182	hsa-miR-4804-3p	PAR-CLIP	27292025
MIRT458179	hsa-miR-650	PAR-CLIP	27292025
MIRT458179	hsa-miR-650	PAR-CLIP	27292025
MIRT458198	hsa-miR-6511a-5p	PAR-CLIP	27292025
MIRT458198	hsa-miR-6511a-5p	PAR-CLIP	27292025
MIRT458190	hsa-miR-665	PAR-CLIP	27292025
MIRT458190	hsa-miR-665	PAR-CLIP	27292025
MIRT458202	hsa-miR-6771-3p	PAR-CLIP	27292025
MIRT458202	hsa-miR-6771-3p	PAR-CLIP	27292025
MIRT458188	hsa-miR-6840-3p	PAR-CLIP	27292025
MIRT458188	hsa-miR-6840-3p	PAR-CLIP	27292025
MIRT672124	hsa-miR-6895-5p	HITS-CLIP	23824327
MIRT677125	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT458184	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT672123	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672122	hsa-miR-4284	HITS-CLIP	23824327
MIRT672120	hsa-miR-4640-5p	HITS-CLIP	23824327
MIRT672119	hsa-miR-4726-5p	HITS-CLIP	23824327
MIRT672118	hsa-miR-7977	HITS-CLIP	23824327
MIRT672117	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT672124	hsa-miR-6895-5p	HITS-CLIP	23824327
MIRT458184	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT672123	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672122	hsa-miR-4284	HITS-CLIP	23824327
MIRT672121	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672120	hsa-miR-4640-5p	HITS-CLIP	23824327
MIRT672119	hsa-miR-4726-5p	HITS-CLIP	23824327
MIRT672118	hsa-miR-7977	HITS-CLIP	23824327
MIRT672117	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT572984	hsa-miR-1183	PAR-CLIP	20371350
MIRT572983	hsa-miR-4754	PAR-CLIP	20371350
MIRT458202	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT458201	hsa-miR-302f	PAR-CLIP	23592263
MIRT458200	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT458199	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT458198	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT458197	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT458196	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT458195	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT458194	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT458193	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT458192	hsa-miR-4761-3p	PAR-CLIP	23592263
MIRT458191	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT458189	hsa-miR-4459	PAR-CLIP	23592263
MIRT458190	hsa-miR-665	PAR-CLIP	23592263
MIRT458188	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458187	hsa-miR-302a-5p	PAR-CLIP	23592263
MIRT458186	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT458185	hsa-miR-1827	PAR-CLIP	23592263
MIRT458184	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT458183	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT458182	hsa-miR-4804-3p	PAR-CLIP	23592263
MIRT458181	hsa-miR-4720-3p	PAR-CLIP	23592263
MIRT458180	hsa-miR-3612	PAR-CLIP	23592263
MIRT458179	hsa-miR-650	PAR-CLIP	23592263
MIRT458178	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT808534	hsa-miR-1225-5p	CLIP-seq
MIRT808535	hsa-miR-124	CLIP-seq
MIRT808536	hsa-miR-1245b-3p	CLIP-seq
MIRT808537	hsa-miR-1297	CLIP-seq
MIRT808538	hsa-miR-1305	CLIP-seq
MIRT808539	hsa-miR-193a-3p	CLIP-seq
MIRT808540	hsa-miR-193b	CLIP-seq
MIRT808541	hsa-miR-202	CLIP-seq
MIRT808542	hsa-miR-24	CLIP-seq
MIRT808543	hsa-miR-2682	CLIP-seq
MIRT808544	hsa-miR-26a	CLIP-seq
MIRT808545	hsa-miR-26b	CLIP-seq
MIRT808546	hsa-miR-2964a-3p	CLIP-seq
MIRT808547	hsa-miR-3122	CLIP-seq
MIRT808548	hsa-miR-3126-5p	CLIP-seq
MIRT808549	hsa-miR-3132	CLIP-seq
MIRT808550	hsa-miR-3135	CLIP-seq
MIRT808551	hsa-miR-3143	CLIP-seq
MIRT808552	hsa-miR-3157-5p	CLIP-seq
MIRT808553	hsa-miR-3165	CLIP-seq
MIRT808554	hsa-miR-3176	CLIP-seq
MIRT808555	hsa-miR-3189-3p	CLIP-seq
MIRT808556	hsa-miR-337-3p	CLIP-seq
MIRT808557	hsa-miR-3622a-3p	CLIP-seq
MIRT808558	hsa-miR-3622b-3p	CLIP-seq
MIRT808559	hsa-miR-3653	CLIP-seq
MIRT808560	hsa-miR-3658	CLIP-seq
MIRT808561	hsa-miR-3665	CLIP-seq
MIRT808562	hsa-miR-3685	CLIP-seq
MIRT808563	hsa-miR-3689a-3p	CLIP-seq
MIRT808564	hsa-miR-3689c	CLIP-seq
MIRT808565	hsa-miR-3714	CLIP-seq
MIRT808566	hsa-miR-371-5p	CLIP-seq
MIRT808567	hsa-miR-371b-5p	CLIP-seq
MIRT808568	hsa-miR-384	CLIP-seq
MIRT808569	hsa-miR-3910	CLIP-seq
MIRT808570	hsa-miR-3913-5p	CLIP-seq
MIRT808571	hsa-miR-3915	CLIP-seq
MIRT808572	hsa-miR-3922-3p	CLIP-seq
MIRT808573	hsa-miR-3928	CLIP-seq
MIRT808574	hsa-miR-3938	CLIP-seq
MIRT808575	hsa-miR-3975	CLIP-seq
MIRT808576	hsa-miR-4325	CLIP-seq
MIRT808577	hsa-miR-4419a	CLIP-seq
MIRT808578	hsa-miR-4426	CLIP-seq
MIRT808579	hsa-miR-4433	CLIP-seq
MIRT808580	hsa-miR-4465	CLIP-seq
MIRT808581	hsa-miR-4477a	CLIP-seq
MIRT808582	hsa-miR-449c	CLIP-seq
MIRT808583	hsa-miR-4510	CLIP-seq
MIRT808584	hsa-miR-4647	CLIP-seq
MIRT808585	hsa-miR-4662b	CLIP-seq
MIRT808586	hsa-miR-4666-3p	CLIP-seq
MIRT808587	hsa-miR-4684-5p	CLIP-seq
MIRT808588	hsa-miR-4699-5p	CLIP-seq
MIRT808589	hsa-miR-4719	CLIP-seq
MIRT808590	hsa-miR-4728-5p	CLIP-seq
MIRT808591	hsa-miR-4736	CLIP-seq
MIRT808592	hsa-miR-4761-5p	CLIP-seq
MIRT808593	hsa-miR-4797-5p	CLIP-seq
MIRT808594	hsa-miR-4803	CLIP-seq
MIRT808595	hsa-miR-487a	CLIP-seq
MIRT808596	hsa-miR-506	CLIP-seq
MIRT808597	hsa-miR-513b	CLIP-seq
MIRT808598	hsa-miR-520d-5p	CLIP-seq
MIRT808599	hsa-miR-524-5p	CLIP-seq
MIRT808600	hsa-miR-542-3p	CLIP-seq
MIRT808601	hsa-miR-544b	CLIP-seq
MIRT808602	hsa-miR-548aa	CLIP-seq
MIRT808603	hsa-miR-548ac	CLIP-seq
MIRT808604	hsa-miR-548d-3p	CLIP-seq
MIRT808605	hsa-miR-548z	CLIP-seq
MIRT808606	hsa-miR-555	CLIP-seq
MIRT808607	hsa-miR-562	CLIP-seq
MIRT808608	hsa-miR-759	CLIP-seq
MIRT808609	hsa-miR-940	CLIP-seq
MIRT1545614	hsa-miR-139-5p	CLIP-seq
MIRT808542	hsa-miR-24	CLIP-seq
MIRT1545615	hsa-miR-4310	CLIP-seq
MIRT1545616	hsa-miR-4477b	CLIP-seq
MIRT808586	hsa-miR-4666-3p	CLIP-seq
MIRT1545617	hsa-miR-4704-3p	CLIP-seq
MIRT1545618	hsa-miR-629	CLIP-seq
MIRT808538	hsa-miR-1305	CLIP-seq
MIRT1938836	hsa-miR-1321	CLIP-seq
MIRT1938837	hsa-miR-136	CLIP-seq
MIRT1938838	hsa-miR-2278	CLIP-seq
MIRT808542	hsa-miR-24	CLIP-seq
MIRT808547	hsa-miR-3122	CLIP-seq
MIRT808549	hsa-miR-3132	CLIP-seq
MIRT808550	hsa-miR-3135	CLIP-seq
MIRT1938839	hsa-miR-3155	CLIP-seq
MIRT1938840	hsa-miR-3155b	CLIP-seq
MIRT808552	hsa-miR-3157-5p	CLIP-seq
MIRT1938841	hsa-miR-3162-5p	CLIP-seq
MIRT1938842	hsa-miR-3184	CLIP-seq
MIRT808557	hsa-miR-3622a-3p	CLIP-seq
MIRT808558	hsa-miR-3622b-3p	CLIP-seq
MIRT1938843	hsa-miR-3622b-5p	CLIP-seq
MIRT808563	hsa-miR-3689a-3p	CLIP-seq
MIRT808564	hsa-miR-3689c	CLIP-seq
MIRT808566	hsa-miR-371-5p	CLIP-seq
MIRT808567	hsa-miR-371b-5p	CLIP-seq
MIRT808570	hsa-miR-3913-5p	CLIP-seq
MIRT1938844	hsa-miR-423-5p	CLIP-seq
MIRT1545615	hsa-miR-4310	CLIP-seq
MIRT808576	hsa-miR-4325	CLIP-seq
MIRT808579	hsa-miR-4433	CLIP-seq
MIRT1938845	hsa-miR-4511	CLIP-seq
MIRT1938846	hsa-miR-4698	CLIP-seq
MIRT1938847	hsa-miR-4728-3p	CLIP-seq
MIRT808590	hsa-miR-4728-5p	CLIP-seq
MIRT1938848	hsa-miR-4739	CLIP-seq
MIRT1938849	hsa-miR-4756-5p	CLIP-seq
MIRT808592	hsa-miR-4761-5p	CLIP-seq
MIRT1938850	hsa-miR-4793-3p	CLIP-seq
MIRT1938851	hsa-miR-4796-5p	CLIP-seq
MIRT1938852	hsa-miR-484	CLIP-seq
MIRT1938853	hsa-miR-510	CLIP-seq
MIRT808597	hsa-miR-513b	CLIP-seq
MIRT1938854	hsa-miR-515-5p	CLIP-seq
MIRT808598	hsa-miR-520d-5p	CLIP-seq
MIRT808599	hsa-miR-524-5p	CLIP-seq
MIRT808600	hsa-miR-542-3p	CLIP-seq
MIRT808601	hsa-miR-544b	CLIP-seq
MIRT1938855	hsa-miR-548b-3p	CLIP-seq
MIRT1938856	hsa-miR-628-5p	CLIP-seq
MIRT2177973	hsa-miR-1207-3p	CLIP-seq
MIRT2177974	hsa-miR-1208	CLIP-seq
MIRT808534	hsa-miR-1225-5p	CLIP-seq
MIRT2177975	hsa-miR-1258	CLIP-seq
MIRT2177976	hsa-miR-132	CLIP-seq
MIRT1545614	hsa-miR-139-5p	CLIP-seq
MIRT808539	hsa-miR-193a-3p	CLIP-seq
MIRT808540	hsa-miR-193b	CLIP-seq
MIRT2177977	hsa-miR-194	CLIP-seq
MIRT2177978	hsa-miR-200b	CLIP-seq
MIRT2177979	hsa-miR-200c	CLIP-seq
MIRT2177980	hsa-miR-212	CLIP-seq
MIRT808542	hsa-miR-24	CLIP-seq
MIRT808547	hsa-miR-3122	CLIP-seq
MIRT808549	hsa-miR-3132	CLIP-seq
MIRT808550	hsa-miR-3135	CLIP-seq
MIRT808552	hsa-miR-3157-5p	CLIP-seq
MIRT808553	hsa-miR-3165	CLIP-seq
MIRT808554	hsa-miR-3176	CLIP-seq
MIRT2177981	hsa-miR-3187-3p	CLIP-seq
MIRT808555	hsa-miR-3189-3p	CLIP-seq
MIRT808557	hsa-miR-3622a-3p	CLIP-seq
MIRT808558	hsa-miR-3622b-3p	CLIP-seq
MIRT1938843	hsa-miR-3622b-5p	CLIP-seq
MIRT808561	hsa-miR-3665	CLIP-seq
MIRT2177982	hsa-miR-3672	CLIP-seq
MIRT808563	hsa-miR-3689a-3p	CLIP-seq
MIRT808564	hsa-miR-3689c	CLIP-seq
MIRT808570	hsa-miR-3913-5p	CLIP-seq
MIRT808572	hsa-miR-3922-3p	CLIP-seq
MIRT2177983	hsa-miR-3929	CLIP-seq
MIRT2177984	hsa-miR-3973	CLIP-seq
MIRT808575	hsa-miR-3975	CLIP-seq
MIRT2177985	hsa-miR-425	CLIP-seq
MIRT2177986	hsa-miR-429	CLIP-seq
MIRT1545615	hsa-miR-4310	CLIP-seq
MIRT2177987	hsa-miR-4315	CLIP-seq
MIRT2177988	hsa-miR-4329	CLIP-seq
MIRT2177989	hsa-miR-4419b	CLIP-seq
MIRT2177990	hsa-miR-4420	CLIP-seq
MIRT808579	hsa-miR-4433	CLIP-seq
MIRT2177991	hsa-miR-4435	CLIP-seq
MIRT1545616	hsa-miR-4477b	CLIP-seq
MIRT2177992	hsa-miR-4478	CLIP-seq
MIRT2177993	hsa-miR-4645-5p	CLIP-seq
MIRT2177994	hsa-miR-4646-3p	CLIP-seq
MIRT808586	hsa-miR-4666-3p	CLIP-seq
MIRT2177995	hsa-miR-4670-3p	CLIP-seq
MIRT2177996	hsa-miR-4673	CLIP-seq
MIRT2177997	hsa-miR-4701-5p	CLIP-seq
MIRT1545617	hsa-miR-4704-3p	CLIP-seq
MIRT808590	hsa-miR-4728-5p	CLIP-seq
MIRT808591	hsa-miR-4736	CLIP-seq
MIRT808592	hsa-miR-4761-5p	CLIP-seq
MIRT2177998	hsa-miR-4766-3p	CLIP-seq
MIRT2177999	hsa-miR-4766-5p	CLIP-seq
MIRT1938851	hsa-miR-4796-5p	CLIP-seq
MIRT808593	hsa-miR-4797-5p	CLIP-seq
MIRT2178000	hsa-miR-485-5p	CLIP-seq
MIRT808595	hsa-miR-487a	CLIP-seq
MIRT2178001	hsa-miR-488	CLIP-seq
MIRT2178002	hsa-miR-520g	CLIP-seq
MIRT2178003	hsa-miR-520h	CLIP-seq
MIRT808600	hsa-miR-542-3p	CLIP-seq
MIRT808601	hsa-miR-544b	CLIP-seq
MIRT2178004	hsa-miR-548a-5p	CLIP-seq
MIRT2178005	hsa-miR-548ab	CLIP-seq
MIRT2178006	hsa-miR-548ak	CLIP-seq
MIRT2178007	hsa-miR-548b-5p	CLIP-seq
MIRT2178008	hsa-miR-548c-5p	CLIP-seq
MIRT2178009	hsa-miR-548d-5p	CLIP-seq
MIRT2178010	hsa-miR-548h	CLIP-seq
MIRT2178011	hsa-miR-548i	CLIP-seq
MIRT2178012	hsa-miR-548j	CLIP-seq
MIRT2178013	hsa-miR-548p	CLIP-seq
MIRT2178014	hsa-miR-548w	CLIP-seq
MIRT2178015	hsa-miR-548y	CLIP-seq
MIRT808606	hsa-miR-555	CLIP-seq
MIRT2178016	hsa-miR-559	CLIP-seq
MIRT2178017	hsa-miR-588	CLIP-seq
MIRT2178018	hsa-miR-616	CLIP-seq
MIRT2178019	hsa-miR-622	CLIP-seq
MIRT1545618	hsa-miR-629	CLIP-seq
MIRT808608	hsa-miR-759	CLIP-seq
MIRT2178020	hsa-miR-769-5p	CLIP-seq
MIRT2178021	hsa-miR-935	CLIP-seq
MIRT808609	hsa-miR-940	CLIP-seq
MIRT808549	hsa-miR-3132	CLIP-seq
MIRT808557	hsa-miR-3622a-3p	CLIP-seq
MIRT808558	hsa-miR-3622b-3p	CLIP-seq
MIRT808592	hsa-miR-4761-5p	CLIP-seq
MIRT2444400	hsa-miR-10a	CLIP-seq
MIRT2444401	hsa-miR-10b	CLIP-seq
MIRT1938836	hsa-miR-1321	CLIP-seq
MIRT1938841	hsa-miR-3162-5p	CLIP-seq
MIRT2444402	hsa-miR-339-5p	CLIP-seq
MIRT2444403	hsa-miR-4421	CLIP-seq
MIRT808587	hsa-miR-4684-5p	CLIP-seq
MIRT1938848	hsa-miR-4739	CLIP-seq
MIRT1938849	hsa-miR-4756-5p	CLIP-seq
MIRT2444404	hsa-miR-548c-3p	CLIP-seq
MIRT2444405	hsa-miR-593	CLIP-seq
MIRT2464892	hsa-miR-3921	CLIP-seq
MIRT2464893	hsa-miR-4251	CLIP-seq
MIRT2177988	hsa-miR-4329	CLIP-seq
MIRT2464894	hsa-miR-4653-5p	CLIP-seq
MIRT2464895	hsa-miR-4714-5p	CLIP-seq
MIRT2464896	hsa-miR-634	CLIP-seq
MIRT2178020	hsa-miR-769-5p	CLIP-seq
MIRT2444400	hsa-miR-10a	CLIP-seq
MIRT2444401	hsa-miR-10b	CLIP-seq
MIRT1938836	hsa-miR-1321	CLIP-seq
MIRT808546	hsa-miR-2964a-3p	CLIP-seq
MIRT2481623	hsa-miR-3120-3p	CLIP-seq
MIRT808547	hsa-miR-3122	CLIP-seq
MIRT808549	hsa-miR-3132	CLIP-seq
MIRT1938841	hsa-miR-3162-5p	CLIP-seq
MIRT2444402	hsa-miR-339-5p	CLIP-seq
MIRT808557	hsa-miR-3622a-3p	CLIP-seq
MIRT808558	hsa-miR-3622b-3p	CLIP-seq
MIRT808563	hsa-miR-3689a-3p	CLIP-seq
MIRT808564	hsa-miR-3689c	CLIP-seq
MIRT808566	hsa-miR-371-5p	CLIP-seq
MIRT808567	hsa-miR-371b-5p	CLIP-seq
MIRT808570	hsa-miR-3913-5p	CLIP-seq
MIRT2464892	hsa-miR-3921	CLIP-seq
MIRT2177983	hsa-miR-3929	CLIP-seq
MIRT2464893	hsa-miR-4251	CLIP-seq
MIRT2177988	hsa-miR-4329	CLIP-seq
MIRT2177989	hsa-miR-4419b	CLIP-seq
MIRT2444403	hsa-miR-4421	CLIP-seq
MIRT808579	hsa-miR-4433	CLIP-seq
MIRT2177992	hsa-miR-4478	CLIP-seq
MIRT2481624	hsa-miR-451b	CLIP-seq
MIRT2464894	hsa-miR-4653-5p	CLIP-seq
MIRT808587	hsa-miR-4684-5p	CLIP-seq
MIRT2481625	hsa-miR-4696	CLIP-seq
MIRT2464895	hsa-miR-4714-5p	CLIP-seq
MIRT808590	hsa-miR-4728-5p	CLIP-seq
MIRT1938848	hsa-miR-4739	CLIP-seq
MIRT1938849	hsa-miR-4756-5p	CLIP-seq
MIRT808592	hsa-miR-4761-5p	CLIP-seq
MIRT2178000	hsa-miR-485-5p	CLIP-seq
MIRT808601	hsa-miR-544b	CLIP-seq
MIRT2444404	hsa-miR-548c-3p	CLIP-seq
MIRT2444405	hsa-miR-593	CLIP-seq
MIRT2464896	hsa-miR-634	CLIP-seq
MIRT2481626	hsa-miR-642b	CLIP-seq
MIRT2178020	hsa-miR-769-5p	CLIP-seq
MIRT2178021	hsa-miR-935	CLIP-seq
MIRT2444400	hsa-miR-10a	CLIP-seq
MIRT2444401	hsa-miR-10b	CLIP-seq
MIRT2177973	hsa-miR-1207-3p	CLIP-seq
MIRT2675729	hsa-miR-203	CLIP-seq
MIRT808547	hsa-miR-3122	CLIP-seq
MIRT808549	hsa-miR-3132	CLIP-seq
MIRT2444402	hsa-miR-339-5p	CLIP-seq
MIRT808557	hsa-miR-3622a-3p	CLIP-seq
MIRT808558	hsa-miR-3622b-3p	CLIP-seq
MIRT2177982	hsa-miR-3672	CLIP-seq
MIRT808563	hsa-miR-3689a-3p	CLIP-seq
MIRT808564	hsa-miR-3689c	CLIP-seq
MIRT808570	hsa-miR-3913-5p	CLIP-seq
MIRT2464892	hsa-miR-3921	CLIP-seq
MIRT2177983	hsa-miR-3929	CLIP-seq
MIRT2464893	hsa-miR-4251	CLIP-seq
MIRT2177988	hsa-miR-4329	CLIP-seq
MIRT2177989	hsa-miR-4419b	CLIP-seq
MIRT2444403	hsa-miR-4421	CLIP-seq
MIRT808579	hsa-miR-4433	CLIP-seq
MIRT2177992	hsa-miR-4478	CLIP-seq
MIRT2464894	hsa-miR-4653-5p	CLIP-seq
MIRT808587	hsa-miR-4684-5p	CLIP-seq
MIRT2675730	hsa-miR-4691-3p	CLIP-seq
MIRT2464895	hsa-miR-4714-5p	CLIP-seq
MIRT808590	hsa-miR-4728-5p	CLIP-seq
MIRT808592	hsa-miR-4761-5p	CLIP-seq
MIRT2178000	hsa-miR-485-5p	CLIP-seq
MIRT808601	hsa-miR-544b	CLIP-seq
MIRT2444404	hsa-miR-548c-3p	CLIP-seq
MIRT2444405	hsa-miR-593	CLIP-seq
MIRT2464896	hsa-miR-634	CLIP-seq
MIRT2178020	hsa-miR-769-5p	CLIP-seq
MIRT2178021	hsa-miR-935	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TEAD1	Activation	15878913

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	NAS	32001091
GO:0000220	Component	Vacuolar proton-transporting V-type ATPase, V0 domain	IEA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0005515	Function	Protein binding	IPI	16415858
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	IDA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IMP	28296633
GO:0006955	Process	Immune response	TAS	2247090
GO:0007035	Process	Vacuolar acidification	IBA
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0016241	Process	Regulation of macroautophagy	NAS	22982048
GO:0016471	Component	Vacuolar proton-transporting V-type ATPase complex	IBA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0033176	Component	Proton-transporting V-type ATPase complex	IEA
GO:0033176	Component	Proton-transporting V-type ATPase complex	NAS	33065002
GO:0033179	Component	Proton-transporting V-type ATPase, V0 domain	IEA
GO:0036295	Process	Cellular response to increased oxygen levels	IMP	28296633
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051117	Function	ATPase binding	IBA
GO:0061795	Process	Golgi lumen acidification	NAS	32001091
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	NAS	33065002

Other IDs

• MIM: 611716
• HGNC: 18481
• e!Ensembl: ENSG00000185344

Protein

• UniProt ID: Q9Y487
• Protein name: V-type proton ATPase 116 kDa subunit a 2 (V-ATPase 116 kDa subunit a 2) (Lysosomal H(+)-transporting ATPase V0 subunit a 2) (TJ6) (Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2)
• Protein function: Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01496	V_ATPase_I	27 → 842	V-type ATPase 116kDa subunit family	Family

• Sequence:

  MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEE
  LERILVYLVQEINRADIPLPEGEASPPAPPLKQVLEMQEQLQKLEVELREVTKNKEKLRK
  NLLELIEYTHMLRVTKTFVKRNVEFEPTYEEFPSLESDSLLDYSCMQRLGAKLGFVSGLI
  NQGKVEAFEKMLWRVCKGYTIVSYAELDESLEDPETGEVIKWYVFLISFWGEQIGHKVKK
  ICDCYHCHVYPYPNTAEERREIQEGLNTRIQDLYTVLHKTEDYLRQVLCKAAESVYSRVI
  QVKKMKAIYHMLNMCSFDVTNKCLIAEVWCPEADLQDLRRALEEGSRESGATIPSFMNII
  PTKETPPTRIRTNKFTEGFQNIVDAYGVGSYREVNPALFTIITFPFLFAVMFGDFGHGFV
  MFLFALLLVLNENHPRLNQSQEIMRMFFNGRYILLLMGLFSVYTGLIYNDCFSKSVNLFG
  SGWNVSAMYSSSHPPAEHKKMVLWNDSVVRHNSILQLDPSIPGVFRGPYPLGIDPIWNLA
  TNRLTFLNSFKMKMSVILGIIHMTFGVILGIFNHLHFRKKFNIYLVSIPELLFMLCIFGY
  LIFMIFYKWLVFSAETSRVAPSILIEFINMFLFPASKTSGLYTGQEYVQRVLLVVTALSV
  PVLFLGKPLFLLWLHNGRSCFGVNRSGYTLIRKDSEEEVSLLGSQDIEEGNHQVEDGCRE
  MACEEFNFGEILMTQVIHSIEYCLGCISNTASYLRLWALSLAHAQLSDVLWAMLMRVGLR
  VDTTYGVLLLLPVIALFAVLTIFILLIMEGLSAFLHAIRLHWVEFQNKFYVGAGTKFVPF
  SFSLLSSKFNNDDSVA

• Sequence length: 856

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Lysosome
Phagosome
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Tuberculosis
Human papillomavirus infection
Rheumatoid arthritis

Reactome:

ROS and RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Ion channel transport

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
ALG9 congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs374480381, rs2135920743, rs750984566, rs2135879573, rs80356758, rs80356750, rs767257316, rs2541871623, rs2135887401, rs1593915216, rs1956632157, rs776509864, rs745590426, rs1039808574, rs372852652, rs774222226, rs2541865278, rs1956561543, rs1956710372, rs2541846029, rs2541872719, rs1956768636, rs368924297, rs80356753, rs958086368, rs1956686080, rs1956646992	RCV003502514 RCV001387990 RCV003609191 RCV001985792 RCV005055499 RCV003502506 RCV003062556 RCV003058403 RCV002797313 RCV002848362 RCV002851954 RCV003063983 RCV000689436 RCV003504570 RCV003502171 RCV003609476 RCV003610175 RCV003610439 RCV003608776 RCV003608745 RCV003610715 RCV003849744 RCV003861084 RCV003502507 RCV001042830 RCV001248468 RCV001242368	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cutis laxa	Pathogenic; Likely pathogenic	rs80356750, rs2541878282, rs745590426	RCV004579513 RCV003123476 RCV002265727	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa with osteodystrophy	Likely pathogenic; Pathogenic	rs374480381, rs1220385043, rs80356758, rs80356750, rs767257316, rs2541822774, rs745590426, rs1039808574, rs372852652, rs80356756, rs367543007, rs80356751, rs80356753, rs1566294545, rs1956462432, rs1956563926	RCV002498429 RCV003485991 RCV000000887 RCV000000888 RCV005010898 RCV002789998 RCV005008254 RCV005013034 RCV005013044 RCV000020684 RCV000020685 RCV000020688 RCV000020690 RCV000032647 RCV001290336 RCV001290340	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Pathogenic	rs80356751	RCV005887594	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wrinkly skin syndrome	Likely pathogenic; Pathogenic	rs374480381, rs80356750, rs767257316, rs745590426, rs1039808574, rs372852652, rs80356751	RCV002498429 RCV005007801 RCV005010898 RCV005008254 RCV005013034 RCV005013044 RCV000000889	★★★★★ 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
ATP6V0A2-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATP6VOA2-related disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ACCESSORY SKIN TAG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1L	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Recessive	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL BENIGN PEMPHIGUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS FOLLICULARIS DARIER-WHITE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL-GRUBER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROTHMUND-THOMSON SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	26612766		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27062231		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	8843857	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27062231		★☆☆☆☆ Found in Text Mining only
Autosomal recessive cutis laxa type 2, classic type	Cutis Laxa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	29206322		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	23329773		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23836555		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27146324, 37090185	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26919236	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1L	Congenital disorder of glycosylation	CLINVAR_DG	19321599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	24555185, 28122681		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	29759592, 29869806, 33407696	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23836555		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	LHGDN	18157129		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis Laxa	Cutis Laxa	BEFREE	18348261, 19171192, 21567914, 22829427, 24478233, 24555185, 28294978, 29311258, 29952037		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis Laxa	Cutis Laxa	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis Laxa Autosomal Recessive Type I	Cutis laxa	Pubtator	19321599	Associate	★☆☆☆☆ Found in Text Mining only
Cutis Laxa Autosomal Recessive Type IIA	Cutis laxa	Pubtator	30474613	Associate	★☆☆☆☆ Found in Text Mining only
Cutis Laxa Autosomal Recessive Type IIA	Cutis laxa	Pubtator	30474613	Inhibit	★☆☆☆☆ Found in Text Mining only
Cutis Laxa, Autosomal Recessive, Type IIA	Cutis Laxa	CLINVAR_DG	18157129		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Autosomal Recessive, Type IIA	Cutis Laxa	ORPHANET_DG	18157129, 19321599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Autosomal Recessive, Type IIA	Cutis Laxa	GENOMICS_ENGLAND_DG	22773132, 22829427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Autosomal Recessive, Type IIA	Cutis Laxa	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	Cutis Laxa	ORPHANET_DG	18157129, 19321599		★☆☆☆☆ Found in Text Mining only
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	Cutis Laxa	ORPHANET_DG	18157129, 19321599		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31468199		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	24478233		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	11737651		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23963297		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	23963297	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Geroderma osteodysplastica	Geroderma Osteodysplastica	BEFREE	19006212, 28294978		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	16585213		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	16585213		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	3460331	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic disease	Pubtator	30474613	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	11687481	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28800440		★☆☆☆☆ Found in Text Mining only
Infantile malignant osteopetrosis	Malignant Osteopetrosis	BEFREE	18946580, 19507210, 21042819, 23907031, 25504019, 27541021, 28726516, 29469225, 31179768		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	23936208	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	30366503		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Alcoholic	Liver cirrhosis	Pubtator	11687481	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	18348261		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20716340, 24815469	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	21362473	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	16585213		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23836555		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mixed Connective Tissue Disease	Mixed connective tissue disease	Pubtator	8843857	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23411939, 23573327		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	23329773		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19214504	Associate	★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	22829427, 29952037		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	21362473	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24013563	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	29952037		★☆☆☆☆ Found in Text Mining only
Woodhouse Sakati syndrome	Woodhouse Sakati Syndrome	BEFREE	26612766		★☆☆☆☆ Found in Text Mining only
Wrinkly skin syndrome	Wrinkly Skin Syndrome	CTD_human_DG	18157129		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wrinkly skin syndrome	Wrinkly Skin Syndrome	ORPHANET_DG	18157129		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wrinkly skin syndrome	Wrinkly Skin Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wrinkly skin syndrome	Wrinkly Skin Syndrome	BEFREE	19006212, 22773132, 24035636		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wrinkly skin syndrome	Wrinkly Skin Syndrome	GENOMICS_ENGLAND_DG	22773132, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wrinkly skin syndrome	Wrinkly Skin Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)