UBE2A (ubiquitin conjugating enzyme E2 A)

Gene

• Entrez ID: 7319
• Gene name: Ubiquitin conjugating enzyme E2 A
• Gene symbol: UBE2A
• Synonyms (NCBI Gene): HHR6A, MRXS30, MRXSN, RAD6A, UBC2
• Disease Acronyms (UniProt): MRXSN
• Chromosome: X
• Chromosome location: Xq24
• Summary: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating e

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894952	C>T	Pathogenic	Coding sequence variant, stop gained
rs387906728	G>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1057524693	G>A	Likely-pathogenic	Splice acceptor variant
rs1556235119	A>G	Likely-pathogenic	Initiator codon variant, missense variant, 5 prime UTR variant
rs1556235551	G>A	Pathogenic, not-provided	Missense variant, 5 prime UTR variant, coding sequence variant
rs1556235612	T>C	Pathogenic	Splice donor variant
rs1556244406	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1603308066	CGGGACTTCAAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051916	hsa-let-7b-5p	CLASH	23622248
MIRT050167	hsa-miR-26a-5p	CLASH	23622248
MIRT037559	hsa-miR-744-5p	CLASH	23622248
MIRT036410	hsa-miR-1226-3p	CLASH	23622248
MIRT513632	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT513632	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT513631	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT513630	hsa-miR-1273d	PAR-CLIP	20371350
MIRT513629	hsa-miR-4726-3p	PAR-CLIP	20371350
MIRT513628	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT513627	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT553208	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT553207	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT553206	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT553205	hsa-miR-5700	PAR-CLIP	21572407
MIRT553204	hsa-miR-4802-3p	PAR-CLIP	21572407
MIRT553203	hsa-miR-942-3p	PAR-CLIP	21572407
MIRT553202	hsa-miR-4773	PAR-CLIP	21572407
MIRT553201	hsa-miR-4504	PAR-CLIP	21572407
MIRT553200	hsa-miR-4666a-5p	PAR-CLIP	21572407
MIRT553199	hsa-miR-376a-5p	PAR-CLIP	21572407
MIRT553198	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT553197	hsa-miR-527	PAR-CLIP	21572407
MIRT553196	hsa-miR-6079	PAR-CLIP	21572407
MIRT553195	hsa-miR-4760-5p	PAR-CLIP	21572407
MIRT553194	hsa-miR-8061	PAR-CLIP	21572407
MIRT553193	hsa-miR-2681-5p	PAR-CLIP	21572407
MIRT513632	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT513632	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT513631	hsa-miR-144-3p	PAR-CLIP	23446348
MIRT513630	hsa-miR-1273d	PAR-CLIP	23446348
MIRT513629	hsa-miR-4726-3p	PAR-CLIP	23446348
MIRT513628	hsa-miR-376a-3p	PAR-CLIP	23446348
MIRT513627	hsa-miR-376b-3p	PAR-CLIP	23446348
MIRT513632	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT513632	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT513631	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT513630	hsa-miR-1273d	PAR-CLIP	20371350
MIRT513629	hsa-miR-4726-3p	PAR-CLIP	20371350
MIRT513628	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT513627	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT553208	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT553207	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT553206	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT553205	hsa-miR-5700	PAR-CLIP	21572407
MIRT553204	hsa-miR-4802-3p	PAR-CLIP	21572407
MIRT553203	hsa-miR-942-3p	PAR-CLIP	21572407
MIRT553202	hsa-miR-4773	PAR-CLIP	21572407
MIRT553201	hsa-miR-4504	PAR-CLIP	21572407
MIRT553200	hsa-miR-4666a-5p	PAR-CLIP	21572407
MIRT553199	hsa-miR-376a-5p	PAR-CLIP	21572407
MIRT553198	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT553197	hsa-miR-527	PAR-CLIP	21572407
MIRT553196	hsa-miR-6079	PAR-CLIP	21572407
MIRT553195	hsa-miR-4760-5p	PAR-CLIP	21572407
MIRT553194	hsa-miR-8061	PAR-CLIP	21572407
MIRT553193	hsa-miR-2681-5p	PAR-CLIP	21572407
MIRT513632	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT513632	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT513631	hsa-miR-144-3p	PAR-CLIP	23446348
MIRT513630	hsa-miR-1273d	PAR-CLIP	23446348
MIRT513629	hsa-miR-4726-3p	PAR-CLIP	23446348
MIRT513628	hsa-miR-376a-3p	PAR-CLIP	23446348
MIRT513627	hsa-miR-376b-3p	PAR-CLIP	23446348
MIRT1466926	hsa-miR-1202	CLIP-seq
MIRT1466927	hsa-miR-1237	CLIP-seq
MIRT1466928	hsa-miR-1246	CLIP-seq
MIRT1466929	hsa-miR-1248	CLIP-seq
MIRT1466930	hsa-miR-1252	CLIP-seq
MIRT1466931	hsa-miR-1290	CLIP-seq
MIRT1466932	hsa-miR-1321	CLIP-seq
MIRT1466933	hsa-miR-182	CLIP-seq
MIRT1466934	hsa-miR-205	CLIP-seq
MIRT1466935	hsa-miR-28-5p	CLIP-seq
MIRT1466936	hsa-miR-31	CLIP-seq
MIRT1466937	hsa-miR-3136-5p	CLIP-seq
MIRT1466938	hsa-miR-3137	CLIP-seq
MIRT1466939	hsa-miR-3139	CLIP-seq
MIRT1466940	hsa-miR-3162-5p	CLIP-seq
MIRT1466941	hsa-miR-3167	CLIP-seq
MIRT1466942	hsa-miR-3688-3p	CLIP-seq
MIRT1466943	hsa-miR-3689d	CLIP-seq
MIRT1466944	hsa-miR-3972	CLIP-seq
MIRT1466945	hsa-miR-4261	CLIP-seq
MIRT1466946	hsa-miR-4279	CLIP-seq
MIRT1466947	hsa-miR-4426	CLIP-seq
MIRT1466948	hsa-miR-4439	CLIP-seq
MIRT1466949	hsa-miR-4513	CLIP-seq
MIRT1466950	hsa-miR-4647	CLIP-seq
MIRT1466951	hsa-miR-4662b	CLIP-seq
MIRT1466952	hsa-miR-4666-5p	CLIP-seq
MIRT1466953	hsa-miR-4698	CLIP-seq
MIRT1466954	hsa-miR-4709-5p	CLIP-seq
MIRT1466955	hsa-miR-4717-5p	CLIP-seq
MIRT1466956	hsa-miR-4731-3p	CLIP-seq
MIRT1466957	hsa-miR-4739	CLIP-seq
MIRT1466958	hsa-miR-4756-5p	CLIP-seq
MIRT1466959	hsa-miR-4793-5p	CLIP-seq
MIRT1466960	hsa-miR-4801	CLIP-seq
MIRT1466961	hsa-miR-490-5p	CLIP-seq
MIRT1466962	hsa-miR-501-5p	CLIP-seq
MIRT1466963	hsa-miR-513a-5p	CLIP-seq
MIRT1466964	hsa-miR-708	CLIP-seq
MIRT1466965	hsa-miR-876-5p	CLIP-seq
MIRT2140332	hsa-miR-181a	CLIP-seq
MIRT2140333	hsa-miR-181b	CLIP-seq
MIRT2140334	hsa-miR-181c	CLIP-seq
MIRT2140335	hsa-miR-181d	CLIP-seq
MIRT2140336	hsa-miR-4262	CLIP-seq
MIRT2140337	hsa-miR-4775	CLIP-seq
MIRT2140338	hsa-miR-590-3p	CLIP-seq
MIRT2140339	hsa-miR-609	CLIP-seq
MIRT2361072	hsa-miR-3613-3p	CLIP-seq
MIRT2361073	hsa-miR-371b-5p	CLIP-seq
MIRT1466945	hsa-miR-4261	CLIP-seq
MIRT2361074	hsa-miR-4446-5p	CLIP-seq
MIRT1466954	hsa-miR-4709-5p	CLIP-seq
MIRT2361075	hsa-miR-4755-5p	CLIP-seq
MIRT2361076	hsa-miR-548ae	CLIP-seq
MIRT2361077	hsa-miR-548aj	CLIP-seq
MIRT2361078	hsa-miR-548am	CLIP-seq
MIRT2361079	hsa-miR-548x	CLIP-seq
MIRT1466952	hsa-miR-4666-5p	CLIP-seq
MIRT2654794	hsa-miR-101	CLIP-seq
MIRT2654795	hsa-miR-103a	CLIP-seq
MIRT2654796	hsa-miR-107	CLIP-seq
MIRT2654797	hsa-miR-1245b-3p	CLIP-seq
MIRT1466928	hsa-miR-1246	CLIP-seq
MIRT1466930	hsa-miR-1252	CLIP-seq
MIRT2654798	hsa-miR-1265	CLIP-seq
MIRT1466931	hsa-miR-1290	CLIP-seq
MIRT2654799	hsa-miR-129-5p	CLIP-seq
MIRT2654800	hsa-miR-144	CLIP-seq
MIRT2140332	hsa-miR-181a	CLIP-seq
MIRT2140333	hsa-miR-181b	CLIP-seq
MIRT2140334	hsa-miR-181c	CLIP-seq
MIRT2140335	hsa-miR-181d	CLIP-seq
MIRT1466933	hsa-miR-182	CLIP-seq
MIRT1466934	hsa-miR-205	CLIP-seq
MIRT2654801	hsa-miR-214	CLIP-seq
MIRT2654802	hsa-miR-223	CLIP-seq
MIRT1466935	hsa-miR-28-5p	CLIP-seq
MIRT2654803	hsa-miR-3064-3p	CLIP-seq
MIRT1466936	hsa-miR-31	CLIP-seq
MIRT2654804	hsa-miR-3119	CLIP-seq
MIRT2654805	hsa-miR-3132	CLIP-seq
MIRT1466938	hsa-miR-3137	CLIP-seq
MIRT1466939	hsa-miR-3139	CLIP-seq
MIRT2654806	hsa-miR-3146	CLIP-seq
MIRT2654807	hsa-miR-3148	CLIP-seq
MIRT2654808	hsa-miR-3154	CLIP-seq
MIRT2654809	hsa-miR-3166	CLIP-seq
MIRT1466941	hsa-miR-3167	CLIP-seq
MIRT2654810	hsa-miR-3173-3p	CLIP-seq
MIRT2654811	hsa-miR-3179	CLIP-seq
MIRT2654812	hsa-miR-3605-5p	CLIP-seq
MIRT2361072	hsa-miR-3613-3p	CLIP-seq
MIRT2654813	hsa-miR-3619-5p	CLIP-seq
MIRT2654814	hsa-miR-3622b-5p	CLIP-seq
MIRT2654815	hsa-miR-3659	CLIP-seq
MIRT2654816	hsa-miR-3664-3p	CLIP-seq
MIRT2654817	hsa-miR-3667-3p	CLIP-seq
MIRT1466942	hsa-miR-3688-3p	CLIP-seq
MIRT2361073	hsa-miR-371b-5p	CLIP-seq
MIRT2654818	hsa-miR-376a	CLIP-seq
MIRT2654819	hsa-miR-376b	CLIP-seq
MIRT2654820	hsa-miR-3936	CLIP-seq
MIRT2654821	hsa-miR-3942-5p	CLIP-seq
MIRT1466945	hsa-miR-4261	CLIP-seq
MIRT2140336	hsa-miR-4262	CLIP-seq
MIRT2654822	hsa-miR-4287	CLIP-seq
MIRT2654823	hsa-miR-4291	CLIP-seq
MIRT2654824	hsa-miR-4311	CLIP-seq
MIRT2654825	hsa-miR-4327	CLIP-seq
MIRT2654826	hsa-miR-4330	CLIP-seq
MIRT2654827	hsa-miR-4422	CLIP-seq
MIRT1466947	hsa-miR-4426	CLIP-seq
MIRT2654828	hsa-miR-4428	CLIP-seq
MIRT2654829	hsa-miR-4435	CLIP-seq
MIRT2654830	hsa-miR-4445	CLIP-seq
MIRT2361074	hsa-miR-4446-5p	CLIP-seq
MIRT2654831	hsa-miR-4452	CLIP-seq
MIRT2654832	hsa-miR-4477b	CLIP-seq
MIRT2654833	hsa-miR-4481	CLIP-seq
MIRT2654834	hsa-miR-4496	CLIP-seq
MIRT2654835	hsa-miR-4502	CLIP-seq
MIRT2654836	hsa-miR-450b-5p	CLIP-seq
MIRT2654837	hsa-miR-4642	CLIP-seq
MIRT1466950	hsa-miR-4647	CLIP-seq
MIRT2654838	hsa-miR-4650-3p	CLIP-seq
MIRT2654839	hsa-miR-4658	CLIP-seq
MIRT1466951	hsa-miR-4662b	CLIP-seq
MIRT1466952	hsa-miR-4666-5p	CLIP-seq
MIRT2654840	hsa-miR-4685-3p	CLIP-seq
MIRT2654841	hsa-miR-4697-3p	CLIP-seq
MIRT1466953	hsa-miR-4698	CLIP-seq
MIRT2654842	hsa-miR-4703-5p	CLIP-seq
MIRT1466954	hsa-miR-4709-5p	CLIP-seq
MIRT1466955	hsa-miR-4717-5p	CLIP-seq
MIRT2654843	hsa-miR-4728-3p	CLIP-seq
MIRT1466956	hsa-miR-4731-3p	CLIP-seq
MIRT2654844	hsa-miR-4738-3p	CLIP-seq
MIRT2654845	hsa-miR-4745-5p	CLIP-seq
MIRT2361075	hsa-miR-4755-5p	CLIP-seq
MIRT2654846	hsa-miR-4758-5p	CLIP-seq
MIRT2654847	hsa-miR-4760-3p	CLIP-seq
MIRT2654848	hsa-miR-4762-3p	CLIP-seq
MIRT2654849	hsa-miR-4764-5p	CLIP-seq
MIRT2654850	hsa-miR-4766-5p	CLIP-seq
MIRT2140337	hsa-miR-4775	CLIP-seq
MIRT2654851	hsa-miR-4798-3p	CLIP-seq
MIRT2654852	hsa-miR-4799-5p	CLIP-seq
MIRT1466960	hsa-miR-4801	CLIP-seq
MIRT2654853	hsa-miR-488	CLIP-seq
MIRT1466961	hsa-miR-490-5p	CLIP-seq
MIRT2654854	hsa-miR-494	CLIP-seq
MIRT1466962	hsa-miR-501-5p	CLIP-seq
MIRT2654855	hsa-miR-502-5p	CLIP-seq
MIRT2654856	hsa-miR-507	CLIP-seq
MIRT2654857	hsa-miR-510	CLIP-seq
MIRT1466963	hsa-miR-513a-5p	CLIP-seq
MIRT2361076	hsa-miR-548ae	CLIP-seq
MIRT2361077	hsa-miR-548aj	CLIP-seq
MIRT2361078	hsa-miR-548am	CLIP-seq
MIRT2654858	hsa-miR-548g	CLIP-seq
MIRT2654859	hsa-miR-548l	CLIP-seq
MIRT2654860	hsa-miR-548m	CLIP-seq
MIRT2654861	hsa-miR-548n	CLIP-seq
MIRT2654862	hsa-miR-548t	CLIP-seq
MIRT2361079	hsa-miR-548x	CLIP-seq
MIRT2654863	hsa-miR-557	CLIP-seq
MIRT2654864	hsa-miR-574-5p	CLIP-seq
MIRT2140338	hsa-miR-590-3p	CLIP-seq
MIRT2654865	hsa-miR-592	CLIP-seq
MIRT2654866	hsa-miR-597	CLIP-seq
MIRT2654867	hsa-miR-605	CLIP-seq
MIRT2140339	hsa-miR-609	CLIP-seq
MIRT2654868	hsa-miR-646	CLIP-seq
MIRT2654869	hsa-miR-648	CLIP-seq
MIRT2654870	hsa-miR-664	CLIP-seq
MIRT1466964	hsa-miR-708	CLIP-seq
MIRT2654871	hsa-miR-761	CLIP-seq
MIRT1466965	hsa-miR-876-5p	CLIP-seq
MIRT2654872	hsa-miR-922	CLIP-seq
MIRT2654794	hsa-miR-101	CLIP-seq
MIRT2654795	hsa-miR-103a	CLIP-seq
MIRT2654796	hsa-miR-107	CLIP-seq
MIRT2654797	hsa-miR-1245b-3p	CLIP-seq
MIRT1466928	hsa-miR-1246	CLIP-seq
MIRT1466930	hsa-miR-1252	CLIP-seq
MIRT2654798	hsa-miR-1265	CLIP-seq
MIRT1466931	hsa-miR-1290	CLIP-seq
MIRT2654799	hsa-miR-129-5p	CLIP-seq
MIRT2654800	hsa-miR-144	CLIP-seq
MIRT2140332	hsa-miR-181a	CLIP-seq
MIRT2140333	hsa-miR-181b	CLIP-seq
MIRT2140334	hsa-miR-181c	CLIP-seq
MIRT2140335	hsa-miR-181d	CLIP-seq
MIRT1466933	hsa-miR-182	CLIP-seq
MIRT1466934	hsa-miR-205	CLIP-seq
MIRT2654801	hsa-miR-214	CLIP-seq
MIRT1466935	hsa-miR-28-5p	CLIP-seq
MIRT2654803	hsa-miR-3064-3p	CLIP-seq
MIRT1466936	hsa-miR-31	CLIP-seq
MIRT2654804	hsa-miR-3119	CLIP-seq
MIRT2654805	hsa-miR-3132	CLIP-seq
MIRT1466938	hsa-miR-3137	CLIP-seq
MIRT1466939	hsa-miR-3139	CLIP-seq
MIRT2654806	hsa-miR-3146	CLIP-seq
MIRT2654808	hsa-miR-3154	CLIP-seq
MIRT2654809	hsa-miR-3166	CLIP-seq
MIRT1466941	hsa-miR-3167	CLIP-seq
MIRT2654810	hsa-miR-3173-3p	CLIP-seq
MIRT2654811	hsa-miR-3179	CLIP-seq
MIRT2654812	hsa-miR-3605-5p	CLIP-seq
MIRT2361072	hsa-miR-3613-3p	CLIP-seq
MIRT2654813	hsa-miR-3619-5p	CLIP-seq
MIRT2654814	hsa-miR-3622b-5p	CLIP-seq
MIRT2654815	hsa-miR-3659	CLIP-seq
MIRT2654816	hsa-miR-3664-3p	CLIP-seq
MIRT2654817	hsa-miR-3667-3p	CLIP-seq
MIRT1466942	hsa-miR-3688-3p	CLIP-seq
MIRT2361073	hsa-miR-371b-5p	CLIP-seq
MIRT2654818	hsa-miR-376a	CLIP-seq
MIRT2654819	hsa-miR-376b	CLIP-seq
MIRT2654820	hsa-miR-3936	CLIP-seq
MIRT2654821	hsa-miR-3942-5p	CLIP-seq
MIRT1466945	hsa-miR-4261	CLIP-seq
MIRT2140336	hsa-miR-4262	CLIP-seq
MIRT2654822	hsa-miR-4287	CLIP-seq
MIRT2654823	hsa-miR-4291	CLIP-seq
MIRT2654824	hsa-miR-4311	CLIP-seq
MIRT2654825	hsa-miR-4327	CLIP-seq
MIRT2654826	hsa-miR-4330	CLIP-seq
MIRT2654827	hsa-miR-4422	CLIP-seq
MIRT1466947	hsa-miR-4426	CLIP-seq
MIRT2654828	hsa-miR-4428	CLIP-seq
MIRT2654829	hsa-miR-4435	CLIP-seq
MIRT2654830	hsa-miR-4445	CLIP-seq
MIRT2361074	hsa-miR-4446-5p	CLIP-seq
MIRT2654831	hsa-miR-4452	CLIP-seq
MIRT2654832	hsa-miR-4477b	CLIP-seq
MIRT2654833	hsa-miR-4481	CLIP-seq
MIRT2654834	hsa-miR-4496	CLIP-seq
MIRT2654835	hsa-miR-4502	CLIP-seq
MIRT2654836	hsa-miR-450b-5p	CLIP-seq
MIRT2654837	hsa-miR-4642	CLIP-seq
MIRT1466950	hsa-miR-4647	CLIP-seq
MIRT2654838	hsa-miR-4650-3p	CLIP-seq
MIRT2654839	hsa-miR-4658	CLIP-seq
MIRT1466951	hsa-miR-4662b	CLIP-seq
MIRT1466952	hsa-miR-4666-5p	CLIP-seq
MIRT2654840	hsa-miR-4685-3p	CLIP-seq
MIRT1466953	hsa-miR-4698	CLIP-seq
MIRT2654842	hsa-miR-4703-5p	CLIP-seq
MIRT1466954	hsa-miR-4709-5p	CLIP-seq
MIRT1466955	hsa-miR-4717-5p	CLIP-seq
MIRT2654843	hsa-miR-4728-3p	CLIP-seq
MIRT1466956	hsa-miR-4731-3p	CLIP-seq
MIRT2654844	hsa-miR-4738-3p	CLIP-seq
MIRT2654845	hsa-miR-4745-5p	CLIP-seq
MIRT2361075	hsa-miR-4755-5p	CLIP-seq
MIRT2654846	hsa-miR-4758-5p	CLIP-seq
MIRT2654847	hsa-miR-4760-3p	CLIP-seq
MIRT2654848	hsa-miR-4762-3p	CLIP-seq
MIRT2654849	hsa-miR-4764-5p	CLIP-seq
MIRT2654850	hsa-miR-4766-5p	CLIP-seq
MIRT2140337	hsa-miR-4775	CLIP-seq
MIRT2654851	hsa-miR-4798-3p	CLIP-seq
MIRT2654852	hsa-miR-4799-5p	CLIP-seq
MIRT1466960	hsa-miR-4801	CLIP-seq
MIRT2654853	hsa-miR-488	CLIP-seq
MIRT1466961	hsa-miR-490-5p	CLIP-seq
MIRT1466962	hsa-miR-501-5p	CLIP-seq
MIRT2654855	hsa-miR-502-5p	CLIP-seq
MIRT2654856	hsa-miR-507	CLIP-seq
MIRT2654857	hsa-miR-510	CLIP-seq
MIRT1466963	hsa-miR-513a-5p	CLIP-seq
MIRT2361076	hsa-miR-548ae	CLIP-seq
MIRT2361077	hsa-miR-548aj	CLIP-seq
MIRT2361078	hsa-miR-548am	CLIP-seq
MIRT2654858	hsa-miR-548g	CLIP-seq
MIRT2654859	hsa-miR-548l	CLIP-seq
MIRT2654860	hsa-miR-548m	CLIP-seq
MIRT2654861	hsa-miR-548n	CLIP-seq
MIRT2654862	hsa-miR-548t	CLIP-seq
MIRT2361079	hsa-miR-548x	CLIP-seq
MIRT2654863	hsa-miR-557	CLIP-seq
MIRT2654864	hsa-miR-574-5p	CLIP-seq
MIRT2694603	hsa-miR-587	CLIP-seq
MIRT2140338	hsa-miR-590-3p	CLIP-seq
MIRT2654865	hsa-miR-592	CLIP-seq
MIRT2654866	hsa-miR-597	CLIP-seq
MIRT2654867	hsa-miR-605	CLIP-seq
MIRT2140339	hsa-miR-609	CLIP-seq
MIRT2654868	hsa-miR-646	CLIP-seq
MIRT2654869	hsa-miR-648	CLIP-seq
MIRT2654870	hsa-miR-664	CLIP-seq
MIRT1466964	hsa-miR-708	CLIP-seq
MIRT2654871	hsa-miR-761	CLIP-seq
MIRT2694604	hsa-miR-767-3p	CLIP-seq
MIRT1466965	hsa-miR-876-5p	CLIP-seq
MIRT2654872	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IBA	21873635
GO:0000209	Process	Protein polyubiquitination	TAS
GO:0000785	Component	Chromatin	ISS
GO:0001741	Component	XY body	IEA
GO:0001835	Process	Blastocyst hatching	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	11953320, 20061386
GO:0005515	Function	Protein binding	IPI	19549727, 21329877, 24981860, 25416956, 26496610, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IBA	21873635
GO:0006281	Process	DNA repair	IGI	1717990
GO:0006301	Process	Postreplication repair	NAS	1559696
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	NAS	1559696
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	11953320
GO:0009411	Process	Response to UV	IGI	1717990
GO:0016567	Process	Protein ubiquitination	TAS
GO:0016574	Process	Histone ubiquitination	IBA	21873635
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	10908344
GO:0033503	Component	HULC complex	IBA	21873635
GO:0033503	Component	HULC complex	IDA	19410543
GO:0033522	Process	Histone H2A ubiquitination	IDA	11953320
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0051865	Process	Protein autoubiquitination	IDA	11953320
GO:0060135	Process	Maternal process involved in female pregnancy	IEA
GO:0061631	Function	Ubiquitin conjugating enzyme activity	IBA	21873635
GO:0061631	Function	Ubiquitin conjugating enzyme activity	IDA	20061386
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	20061386
GO:0070979	Process	Protein K11-linked ubiquitination	IDA	20061386

Other IDs

• MIM: 312180
• HGNC: 12472
• e!Ensembl: ENSG00000077721

Protein

• UniProt ID: P49459
• Protein name: Ubiquitin-conjugating enzyme E2 A (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme A) (RAD6 homolog A) (HR6A) (hHR6A) (Ubiquitin carrier protein A) (Ubiquitin-protein ligase A)
• Protein function: E2 ubiquitin-conjugating enzyme that accepts ubiquitin from the ubiquitin-activating enzyme E1 and transfers it to a E3 ubiquitin-protein ligase (PubMed:16337599, PubMed:20061386, PubMed:23685073, PubMed:25582440, PubMed:38297121). In vitro cata
• PDB: 6CYO, 6CYR, 8BTL, 8IEJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00179	UQ_con	8 → 145	Ubiquitin-conjugating enzyme	Domain

• Sequence:

  MSTPARRRLMRDFKRLQEDPPAGVSGAPSENNIMVWNAVIFGPEGTPFEDGTFKLTIEFT
  EEYPNKPPTVRFVSKMFHPNVYADGSICLDILQNRWSPTYDVSSILTSIQSLLDEPNPNS
  PANSQAAQLYQENKREYEKRVSAIVEQSWRDC

• Sequence length: 152

Pathways

KEGG:

Ubiquitin mediated proteolysis

Reactome:

Synthesis of active ubiquitin: roles of E1 and E2 enzymes
E3 ubiquitin ligases ubiquitinate target proteins
Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Double outlet right ventricle	Double Outlet Right Ventricle	rs397514520, rs397514521
Hyperbilirubinemia	Hyperbilirubinemia, Neonatal	rs34993780, rs587784535, rs797046090, rs797046091
Mental retardation	Severe intellectual disability, Moderate intellectual disability, MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	16909393, 26476408, 20412111, 29283210, 28611923, 24053514, 23685073
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation, x-linked	X-linked intellectual disability, Nascimento type	rs1603009115, rs199422240, rs199422234, rs782600511, rs199422235, rs199422236, rs199422237, rs199422238, rs199422239, rs2147483647, rs137852561, rs104894952, rs137852350, rs137852351, rs137852352, rs587776734, rs267606995, rs121918525, rs121918526, rs606231182, rs606231183, rs137852214, rs137852215, rs121918522, rs121918523, rs121918524, rs121918521, rs730882185, rs730882186, rs137853272, rs267607187, rs267607189, rs267607188, rs1602048836, rs1602048728, rs1328291159, rs28936077, rs121434615, rs121434616, rs786200913, rs1603370185, rs122468181, rs122468182, rs122461160, rs122461161, rs1373474125, rs137852815, rs387906499, rs122458138, rs1569423317, rs122458139, rs121434611, rs121434612, rs121434613, rs121434614, rs397515381, rs121434610, rs267607076, rs121434608, rs121434609, rs104894950, rs122454129, rs61748421, rs398122813, rs387906703, rs398122814, rs398122844, rs387906704, rs387906705, rs398122846, rs398122847, rs398122854, rs387906728, rs281860639, rs387906729, rs397515550, rs397515551, rs397518478, rs397518479, rs397515553, rs587777161, rs587777261, rs587777317, rs587777318, rs587777359, rs587777360, rs587777361, rs587780372, rs1555949612, rs267608329, rs61754457, rs587777605, rs267608465, rs786205133, rs606231282, rs587783357, rs587783360, rs587783361, rs587783362, rs587783364, rs587783366, rs587783368, rs587783370, rs587783371, rs137929307, rs727503977, rs727505397, rs786205208, rs794727270, rs139990565, rs794727881, rs796052231, rs796052232, rs796052234, rs796052235, rs796052236, rs796052230, rs796052226, rs797045024, rs797045025, rs869320681, rs797045026, rs797044862, rs797045140, rs879255583, rs879255584, rs797045920, rs797045433, rs749742837, rs797045431, rs782246658, rs797045646, rs863224854, rs863224879, rs864321627, rs864321628, rs864321631, rs869025343, rs869025344, rs869025345, rs869025588, rs869025589, rs869025590, rs869025591, rs869025592, rs752738546, rs875989829, rs869312692, rs1555988417, rs886039763, rs886039764, rs875989799, rs875989803, rs875989802, rs876661316, rs878853055, rs758719615, rs878854425, rs1569309474, rs1569309776, rs1569309459, rs1923775114, rs1569233549, rs1569230006, rs1569231897, rs886037836, rs1114167352, rs1929024034, rs886038208, rs886038209, rs886038210, rs886038211, rs886041767, rs886041481, rs886041705, rs886041876, rs886041701, rs886041595, rs886041433, rs886041774, rs886041971, rs1057518171, rs1057518019, rs1057518707, rs1057518697, rs1057518704, rs1057518729, rs1057518728, rs1057518730, rs1057518650, rs1057519431, rs1057519446, rs1057519430, rs1057519393, rs1057519396, rs1556909287, rs1556910184, rs1556912828, rs1556913180, rs1556913258, rs1556913268, rs782393002, rs1556955128, rs1556978515, rs1557006873, rs1557006903, rs1557024919, rs1557036757, rs1557036768, rs782099475, rs1057522024, rs1057520858, rs1057521657, rs1060499652, rs1060499661, rs1060499660, rs1060505032, rs1060505033, rs1064796023, rs1064794254, rs1064793796, rs1064796820, rs1064796827, rs1064795387, rs779508996, rs1064795512, rs1064793874, rs1085307760, rs1114167441, rs1131692155, rs1114167891, rs943295842, rs1131690786, rs1131691299, rs1131691887, rs1131691982, rs1131692040, rs1131692041, rs1131692042, rs1131692227, rs1135401788, rs1135401800, rs1135401762, rs1556014749, rs1556910261, rs1555972599, rs1556235551, rs1557314191, rs1555972628, rs1555980033, rs886128077, rs1556863435, rs1556016632, rs780775497, rs1555933969, rs1555953398, rs1555953819, rs1556016802, rs1556016731, rs1556016555, rs1555950011, rs1556518231, rs1555975458, rs1555986221, rs1556254569, rs904072058, rs1555953488, rs1064794574, rs1556861311, rs1555970404, rs1555981722, rs1556863398, rs1556865060, rs1556016292, rs1556016529, rs1556858912, rs1555932766, rs1556377028, rs1555930128, rs1556836399, rs1555974716, rs1556016224, rs1555981717, rs1556863340, rs1555954380, rs1556852362, rs1556220623, rs1555953548, rs1555954284, rs1556220029, rs1556206910, rs1555977199, rs1556863492, rs1555951993, rs1556880284, rs1555980523, rs1555924331, rs1555917927, rs1555954154, rs1556244406, rs1267519974, rs1555954105, rs1569335265, rs1569429756, rs374220843, rs1569302816, rs782660318, rs1569306724, rs1569309460, rs1569309816, rs1569309449, rs1569395541, rs1569288603, rs1569309484, rs1569057837, rs1569301036, rs1569290954, rs1569291699, rs1569300277, rs1569509136, rs1569394026, rs1569336024, rs1569203705, rs1569234653, rs1569291627, rs1602311804, rs1569238002, rs1569290395, rs1602220706, rs1569399945, rs1569389364, rs1569271378, rs1569271892, rs1569350993, rs1569277866, rs1569277899, rs1569295677, rs1569291261, rs1569380062, rs1603378331, rs1569261319, rs1569278313, rs1602284689, rs1602134459, rs1602424764, rs1602264294, rs1602291658, rs1602291861, rs1602383045, rs1602211123, rs1602279457, rs905353542, rs1602131859, rs1602131872, rs1602132216, rs1602183619, rs1602228596, rs1603305030, rs1602136369, rs1603377813, rs1602624914, rs1602134468, rs1602155923, rs1602183890, rs1602152230, rs1602387702, rs1602481623, rs1602506017, rs1602538353, rs1602624950, rs1603308066, rs1602577238, rs1602119305, rs1602126980, rs1602127262, rs1602220170, rs1602292205, rs1602424869, rs1602283534, rs1602293475, rs1602210960, rs1602147880, rs1601761445, rs1602122138, rs1602292076, rs1555988314, rs1602159841, rs1603371016, rs774419889, rs1602134248, rs1602135698, rs1602738933, rs1602385860, rs2031508845, rs1602550687, rs1602253509, rs1602231587, rs1602210346, rs1601957478, rs1602857000, rs1602511836, rs1019534975, rs1603379772, rs1924650670, rs1772040461, rs1602253464, rs2031389522, rs267608399, rs2074091750, rs2074369642, rs2074383129, rs2061745581, rs2073058023, rs1926795050, rs2080112579, rs2063908570, rs2063927503, rs2063923605, rs2063876114, rs2031456898
Neutropenia	Neutropenia	rs879253882
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Associations from Text Mining
Disease Name	Relationship Type	References
Agammaglobulinemia	Associate	30179896
Ataxia	Associate	30179896
Autistic Disorder	Associate	23471985
Body Dysmorphic Disorders	Associate	33673493
Bone Marrow Diseases	Associate	36215154
Disorders of Sex Development	Associate	30179896
Granulosis Rubra Nasi	Associate	24053514
Growth Disorders	Associate	30179896
Heart Defects Congenital	Associate	33673493
Hirsutism	Associate	30179896
Hypersensitivity Delayed	Associate	24053514
Hypertelorism	Associate	30179896
Inflammatory Bowel Diseases	Associate	22710419
Intellectual Disability	Associate	23471985, 24053514, 24253858, 25582440, 25649377, 30179896, 30531907, 31566921, 33673493
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	30819912
Lymphoma Follicular	Associate	30802265
Lymphoma Large B Cell Diffuse	Associate	36215154
Melanoma	Associate	31683936
Mental Retardation X Linked	Associate	16909393
Multiple Myeloma	Associate	32410217
Muscle Hypotonia	Associate	30179896, 33673493
Nasopharyngeal Carcinoma	Associate	16308470
Non alcoholic Fatty Liver Disease	Associate	26845596
Plagiocephaly and X linked mental retardation	Associate	24053514
Psychomotor Disorders	Associate	33673493
Seizures	Associate	24053514, 30179896
Simosa cranio facial syndrome	Associate	33673493
Skin Abnormalities	Associate	31566921
Speech Disorders	Associate	24053514, 31566921
Thakker Donnai syndrome	Associate	31566921
Urogenital Abnormalities	Associate	31566921, 33673493