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PCGF2 (polycomb group ring finger 2)

Gene

7703

Polycomb group ring finger 2

PCGF2

MEL-18, RNF110, TPFS, ZNF144

17q12

The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryog

Show/Hide all(2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1567941252	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1567941256	G>A	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(421)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028183	hsa-miR-33a-5p	Sequencing	20371350
MIRT038479	hsa-miR-296-3p	CLASH	23622248
MIRT707979	hsa-miR-202-5p	HITS-CLIP	21572407
MIRT076947	hsa-miR-548aa	HITS-CLIP	21572407
MIRT076951	hsa-miR-548ap-3p	HITS-CLIP	21572407
MIRT076945	hsa-miR-548t-3p	HITS-CLIP	21572407
MIRT522017	hsa-miR-548as-3p	HITS-CLIP	21572407
MIRT522016	hsa-miR-548at-3p	HITS-CLIP	21572407
MIRT522015	hsa-miR-548ay-3p	HITS-CLIP	21572407
MIRT522014	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT522013	hsa-miR-3163	HITS-CLIP	21572407
MIRT522012	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT522011	hsa-miR-340-5p	HITS-CLIP	21572407
MIRT522010	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707978	hsa-miR-337-3p	HITS-CLIP	21572407
MIRT522009	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT707977	hsa-miR-3685	HITS-CLIP	21572407
MIRT707976	hsa-miR-384	HITS-CLIP	21572407
MIRT522008	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT076947	hsa-miR-548aa	PAR-CLIP	20371350
MIRT076951	hsa-miR-548ap-3p	PAR-CLIP	20371350
MIRT076945	hsa-miR-548t-3p	PAR-CLIP	20371350
MIRT522017	hsa-miR-548as-3p	PAR-CLIP	20371350
MIRT522016	hsa-miR-548at-3p	PAR-CLIP	20371350
MIRT522015	hsa-miR-548ay-3p	PAR-CLIP	20371350
MIRT522014	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT522013	hsa-miR-3163	PAR-CLIP	20371350
MIRT522012	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT522011	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT522010	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT522009	hsa-miR-493-5p	PAR-CLIP	20371350
MIRT522008	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT076947	hsa-miR-548aa	PAR-CLIP	21572407
MIRT076951	hsa-miR-548ap-3p	PAR-CLIP	21572407
MIRT076945	hsa-miR-548t-3p	PAR-CLIP	21572407
MIRT522017	hsa-miR-548as-3p	PAR-CLIP	21572407
MIRT522016	hsa-miR-548at-3p	PAR-CLIP	21572407
MIRT522015	hsa-miR-548ay-3p	PAR-CLIP	21572407
MIRT522014	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT522013	hsa-miR-3163	PAR-CLIP	21572407
MIRT522012	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT522011	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT522010	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT522009	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT522008	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT076947	hsa-miR-548aa	PAR-CLIP	23446348
MIRT076951	hsa-miR-548ap-3p	PAR-CLIP	23446348
MIRT076945	hsa-miR-548t-3p	PAR-CLIP	23446348
MIRT522017	hsa-miR-548as-3p	PAR-CLIP	23446348
MIRT522016	hsa-miR-548at-3p	PAR-CLIP	23446348
MIRT522015	hsa-miR-548ay-3p	PAR-CLIP	23446348
MIRT522014	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT522013	hsa-miR-3163	PAR-CLIP	23446348
MIRT522012	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT522011	hsa-miR-340-5p	PAR-CLIP	23446348
MIRT522010	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT522009	hsa-miR-493-5p	PAR-CLIP	23446348
MIRT522008	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT707979	hsa-miR-202-5p	HITS-CLIP	21572407
MIRT076947	hsa-miR-548aa	HITS-CLIP	21572407
MIRT076951	hsa-miR-548ap-3p	HITS-CLIP	21572407
MIRT076945	hsa-miR-548t-3p	HITS-CLIP	21572407
MIRT522017	hsa-miR-548as-3p	HITS-CLIP	21572407
MIRT522016	hsa-miR-548at-3p	HITS-CLIP	21572407
MIRT522015	hsa-miR-548ay-3p	HITS-CLIP	21572407
MIRT522014	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT522013	hsa-miR-3163	HITS-CLIP	21572407
MIRT522012	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT522011	hsa-miR-340-5p	HITS-CLIP	21572407
MIRT522010	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707978	hsa-miR-337-3p	HITS-CLIP	21572407
MIRT522009	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT707977	hsa-miR-3685	HITS-CLIP	21572407
MIRT707976	hsa-miR-384	HITS-CLIP	21572407
MIRT522008	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT076947	hsa-miR-548aa	PAR-CLIP	20371350
MIRT076951	hsa-miR-548ap-3p	PAR-CLIP	20371350
MIRT076945	hsa-miR-548t-3p	PAR-CLIP	20371350
MIRT522017	hsa-miR-548as-3p	PAR-CLIP	20371350
MIRT522016	hsa-miR-548at-3p	PAR-CLIP	20371350
MIRT522015	hsa-miR-548ay-3p	PAR-CLIP	20371350
MIRT522014	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT522013	hsa-miR-3163	PAR-CLIP	20371350
MIRT522012	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT522011	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT522010	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT522009	hsa-miR-493-5p	PAR-CLIP	20371350
MIRT522008	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT076947	hsa-miR-548aa	PAR-CLIP	21572407
MIRT076951	hsa-miR-548ap-3p	PAR-CLIP	21572407
MIRT076945	hsa-miR-548t-3p	PAR-CLIP	21572407
MIRT522017	hsa-miR-548as-3p	PAR-CLIP	21572407
MIRT522016	hsa-miR-548at-3p	PAR-CLIP	21572407
MIRT522015	hsa-miR-548ay-3p	PAR-CLIP	21572407
MIRT522014	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT522013	hsa-miR-3163	PAR-CLIP	21572407
MIRT522012	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT522011	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT522010	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT522009	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT522008	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT076947	hsa-miR-548aa	PAR-CLIP	23446348
MIRT076951	hsa-miR-548ap-3p	PAR-CLIP	23446348
MIRT076945	hsa-miR-548t-3p	PAR-CLIP	23446348
MIRT522017	hsa-miR-548as-3p	PAR-CLIP	23446348
MIRT522016	hsa-miR-548at-3p	PAR-CLIP	23446348
MIRT522015	hsa-miR-548ay-3p	PAR-CLIP	23446348
MIRT522014	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT522013	hsa-miR-3163	PAR-CLIP	23446348
MIRT522012	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT522011	hsa-miR-340-5p	PAR-CLIP	23446348
MIRT522010	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT522009	hsa-miR-493-5p	PAR-CLIP	23446348
MIRT522008	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT1217408	hsa-miR-1256	CLIP-seq
MIRT1217409	hsa-miR-1299	CLIP-seq
MIRT1217410	hsa-miR-142-5p	CLIP-seq
MIRT1217411	hsa-miR-181a	CLIP-seq
MIRT1217412	hsa-miR-181b	CLIP-seq
MIRT1217413	hsa-miR-181c	CLIP-seq
MIRT1217414	hsa-miR-181d	CLIP-seq
MIRT1217415	hsa-miR-1914	CLIP-seq
MIRT1217416	hsa-miR-1915	CLIP-seq
MIRT1217417	hsa-miR-2964a-5p	CLIP-seq
MIRT1217418	hsa-miR-3065-5p	CLIP-seq
MIRT1217419	hsa-miR-3074-5p	CLIP-seq
MIRT1217420	hsa-miR-3148	CLIP-seq
MIRT1217421	hsa-miR-3153	CLIP-seq
MIRT1217422	hsa-miR-3173-3p	CLIP-seq
MIRT1217423	hsa-miR-329	CLIP-seq
MIRT1217424	hsa-miR-362-3p	CLIP-seq
MIRT1217425	hsa-miR-3688-5p	CLIP-seq
MIRT1217426	hsa-miR-378	CLIP-seq
MIRT1217427	hsa-miR-378b	CLIP-seq
MIRT1217428	hsa-miR-378c	CLIP-seq
MIRT1217429	hsa-miR-378d	CLIP-seq
MIRT1217430	hsa-miR-378e	CLIP-seq
MIRT1217431	hsa-miR-378f	CLIP-seq
MIRT1217432	hsa-miR-378h	CLIP-seq
MIRT1217433	hsa-miR-378i	CLIP-seq
MIRT1217434	hsa-miR-3924	CLIP-seq
MIRT1217435	hsa-miR-3941	CLIP-seq
MIRT1217436	hsa-miR-421	CLIP-seq
MIRT1217437	hsa-miR-422a	CLIP-seq
MIRT1217438	hsa-miR-4262	CLIP-seq
MIRT1217439	hsa-miR-4272	CLIP-seq
MIRT1217440	hsa-miR-4447	CLIP-seq
MIRT1217441	hsa-miR-4472	CLIP-seq
MIRT1217442	hsa-miR-4488	CLIP-seq
MIRT1217443	hsa-miR-4638-3p	CLIP-seq
MIRT1217444	hsa-miR-4685-5p	CLIP-seq
MIRT1217445	hsa-miR-4697-5p	CLIP-seq
MIRT1217446	hsa-miR-4726-3p	CLIP-seq
MIRT1217447	hsa-miR-4779	CLIP-seq
MIRT1217448	hsa-miR-4782-5p	CLIP-seq
MIRT1217449	hsa-miR-4789-3p	CLIP-seq
MIRT1217450	hsa-miR-516b	CLIP-seq
MIRT1217451	hsa-miR-561	CLIP-seq
MIRT1217452	hsa-miR-603	CLIP-seq
MIRT2062734	hsa-miR-125a-3p	CLIP-seq
MIRT2062735	hsa-miR-1286	CLIP-seq
MIRT2062736	hsa-miR-1827	CLIP-seq
MIRT2062737	hsa-miR-185	CLIP-seq
MIRT2062738	hsa-miR-3175	CLIP-seq
MIRT2062739	hsa-miR-3180	CLIP-seq
MIRT2062740	hsa-miR-3180-3p	CLIP-seq
MIRT2062741	hsa-miR-3196	CLIP-seq
MIRT2062742	hsa-miR-3672	CLIP-seq
MIRT2062743	hsa-miR-3692	CLIP-seq
MIRT2062744	hsa-miR-4252	CLIP-seq
MIRT2062745	hsa-miR-4257	CLIP-seq
MIRT2062746	hsa-miR-4306	CLIP-seq
MIRT2062747	hsa-miR-4426	CLIP-seq
MIRT2062748	hsa-miR-4436a	CLIP-seq
MIRT1217440	hsa-miR-4447	CLIP-seq
MIRT1217441	hsa-miR-4472	CLIP-seq
MIRT1217442	hsa-miR-4488	CLIP-seq
MIRT2062749	hsa-miR-4644	CLIP-seq
MIRT2062750	hsa-miR-4647	CLIP-seq
MIRT2062751	hsa-miR-4651	CLIP-seq
MIRT2062752	hsa-miR-4662b	CLIP-seq
MIRT1217445	hsa-miR-4697-5p	CLIP-seq
MIRT1217446	hsa-miR-4726-3p	CLIP-seq
MIRT2062753	hsa-miR-4747-3p	CLIP-seq
MIRT2062754	hsa-miR-608	CLIP-seq
MIRT2062755	hsa-miR-645	CLIP-seq
MIRT2062756	hsa-miR-940	CLIP-seq
MIRT2291143	hsa-miR-1182	CLIP-seq
MIRT2291144	hsa-miR-1207-3p	CLIP-seq
MIRT2291145	hsa-miR-1208	CLIP-seq
MIRT2291146	hsa-miR-1224-5p	CLIP-seq
MIRT2291147	hsa-miR-1228	CLIP-seq
MIRT2291148	hsa-miR-124	CLIP-seq
MIRT1217408	hsa-miR-1256	CLIP-seq
MIRT2062734	hsa-miR-125a-3p	CLIP-seq
MIRT2291149	hsa-miR-1272	CLIP-seq
MIRT2291150	hsa-miR-1273d	CLIP-seq
MIRT2062735	hsa-miR-1286	CLIP-seq
MIRT1217409	hsa-miR-1299	CLIP-seq
MIRT2291151	hsa-miR-1322	CLIP-seq
MIRT2291152	hsa-miR-1324	CLIP-seq
MIRT2291153	hsa-miR-133a	CLIP-seq
MIRT2291154	hsa-miR-133b	CLIP-seq
MIRT1217410	hsa-miR-142-5p	CLIP-seq
MIRT2291155	hsa-miR-145	CLIP-seq
MIRT2291156	hsa-miR-150	CLIP-seq
MIRT1217411	hsa-miR-181a	CLIP-seq
MIRT1217412	hsa-miR-181b	CLIP-seq
MIRT1217413	hsa-miR-181c	CLIP-seq
MIRT1217414	hsa-miR-181d	CLIP-seq
MIRT2291157	hsa-miR-1825	CLIP-seq
MIRT2062736	hsa-miR-1827	CLIP-seq
MIRT2062737	hsa-miR-185	CLIP-seq
MIRT2291158	hsa-miR-18a	CLIP-seq
MIRT2291159	hsa-miR-18b	CLIP-seq
MIRT2291160	hsa-miR-1910	CLIP-seq
MIRT1217415	hsa-miR-1914	CLIP-seq
MIRT1217416	hsa-miR-1915	CLIP-seq
MIRT2291161	hsa-miR-199a-5p	CLIP-seq
MIRT2291162	hsa-miR-199b-5p	CLIP-seq
MIRT2291163	hsa-miR-19a	CLIP-seq
MIRT2291164	hsa-miR-19b	CLIP-seq
MIRT2291165	hsa-miR-2116	CLIP-seq
MIRT2291166	hsa-miR-217	CLIP-seq
MIRT2291167	hsa-miR-218	CLIP-seq
MIRT2291168	hsa-miR-2276	CLIP-seq
MIRT1217417	hsa-miR-2964a-5p	CLIP-seq
MIRT2291169	hsa-miR-296-5p	CLIP-seq
MIRT1217418	hsa-miR-3065-5p	CLIP-seq
MIRT1217419	hsa-miR-3074-5p	CLIP-seq
MIRT2291170	hsa-miR-3120-3p	CLIP-seq
MIRT2291171	hsa-miR-3134	CLIP-seq
MIRT2291172	hsa-miR-3136-3p	CLIP-seq
MIRT2291173	hsa-miR-3150a-3p	CLIP-seq
MIRT1217421	hsa-miR-3153	CLIP-seq
MIRT1217422	hsa-miR-3173-3p	CLIP-seq
MIRT2291174	hsa-miR-3174	CLIP-seq
MIRT2062738	hsa-miR-3175	CLIP-seq
MIRT2291175	hsa-miR-3179	CLIP-seq
MIRT2062739	hsa-miR-3180	CLIP-seq
MIRT2062740	hsa-miR-3180-3p	CLIP-seq
MIRT2291176	hsa-miR-3183	CLIP-seq
MIRT2291177	hsa-miR-3184	CLIP-seq
MIRT2291178	hsa-miR-3189-3p	CLIP-seq
MIRT2291179	hsa-miR-3194-3p	CLIP-seq
MIRT2062741	hsa-miR-3196	CLIP-seq
MIRT2291180	hsa-miR-3202	CLIP-seq
MIRT2291181	hsa-miR-320a	CLIP-seq
MIRT2291182	hsa-miR-320b	CLIP-seq
MIRT2291183	hsa-miR-320c	CLIP-seq
MIRT2291184	hsa-miR-320d	CLIP-seq
MIRT2291185	hsa-miR-323-5p	CLIP-seq
MIRT1217423	hsa-miR-329	CLIP-seq
MIRT2291186	hsa-miR-342-5p	CLIP-seq
MIRT2291187	hsa-miR-3591-3p	CLIP-seq
MIRT2291188	hsa-miR-3613-3p	CLIP-seq
MIRT2291189	hsa-miR-3620	CLIP-seq
MIRT1217424	hsa-miR-362-3p	CLIP-seq
MIRT2291190	hsa-miR-3646	CLIP-seq
MIRT2291191	hsa-miR-3662	CLIP-seq
MIRT2291192	hsa-miR-3667-5p	CLIP-seq
MIRT2062742	hsa-miR-3672	CLIP-seq
MIRT2291193	hsa-miR-3677-5p	CLIP-seq
MIRT1217425	hsa-miR-3688-5p	CLIP-seq
MIRT2291194	hsa-miR-3689d	CLIP-seq
MIRT2062743	hsa-miR-3692	CLIP-seq
MIRT2291195	hsa-miR-370	CLIP-seq
MIRT1217426	hsa-miR-378	CLIP-seq
MIRT1217427	hsa-miR-378b	CLIP-seq
MIRT1217428	hsa-miR-378c	CLIP-seq
MIRT1217429	hsa-miR-378d	CLIP-seq
MIRT1217430	hsa-miR-378e	CLIP-seq
MIRT1217431	hsa-miR-378f	CLIP-seq
MIRT1217432	hsa-miR-378h	CLIP-seq
MIRT1217433	hsa-miR-378i	CLIP-seq
MIRT2291196	hsa-miR-3908	CLIP-seq
MIRT2291197	hsa-miR-3915	CLIP-seq
MIRT1217434	hsa-miR-3924	CLIP-seq
MIRT2291198	hsa-miR-3925-3p	CLIP-seq
MIRT2291199	hsa-miR-3928	CLIP-seq
MIRT1217435	hsa-miR-3941	CLIP-seq
MIRT2291200	hsa-miR-3942-5p	CLIP-seq
MIRT2291201	hsa-miR-3944-5p	CLIP-seq
MIRT1217436	hsa-miR-421	CLIP-seq
MIRT1217437	hsa-miR-422a	CLIP-seq
MIRT2291202	hsa-miR-423-5p	CLIP-seq
MIRT2062744	hsa-miR-4252	CLIP-seq
MIRT2062745	hsa-miR-4257	CLIP-seq
MIRT1217438	hsa-miR-4262	CLIP-seq
MIRT2291203	hsa-miR-4268	CLIP-seq
MIRT2291204	hsa-miR-4269	CLIP-seq
MIRT1217439	hsa-miR-4272	CLIP-seq
MIRT2291205	hsa-miR-4283	CLIP-seq
MIRT2062746	hsa-miR-4306	CLIP-seq
MIRT2291206	hsa-miR-4312	CLIP-seq
MIRT2291207	hsa-miR-4325	CLIP-seq
MIRT2291208	hsa-miR-4330	CLIP-seq
MIRT2062747	hsa-miR-4426	CLIP-seq
MIRT2291209	hsa-miR-4429	CLIP-seq
MIRT2291210	hsa-miR-4431	CLIP-seq
MIRT2062748	hsa-miR-4436a	CLIP-seq
MIRT2291211	hsa-miR-4436b-5p	CLIP-seq
MIRT1217440	hsa-miR-4447	CLIP-seq
MIRT2291212	hsa-miR-4448	CLIP-seq
MIRT2291213	hsa-miR-4461	CLIP-seq
MIRT1217441	hsa-miR-4472	CLIP-seq
MIRT1217442	hsa-miR-4488	CLIP-seq
MIRT2291214	hsa-miR-4533	CLIP-seq
MIRT2291215	hsa-miR-4534	CLIP-seq
MIRT1217443	hsa-miR-4638-3p	CLIP-seq
MIRT2062749	hsa-miR-4644	CLIP-seq
MIRT2291216	hsa-miR-4645-5p	CLIP-seq
MIRT2062750	hsa-miR-4647	CLIP-seq
MIRT2062751	hsa-miR-4651	CLIP-seq
MIRT2291217	hsa-miR-466	CLIP-seq
MIRT2062752	hsa-miR-4662b	CLIP-seq
MIRT2291218	hsa-miR-4664-5p	CLIP-seq
MIRT2291219	hsa-miR-4668-5p	CLIP-seq
MIRT2291220	hsa-miR-4670-5p	CLIP-seq
MIRT2291221	hsa-miR-4672	CLIP-seq
MIRT2291222	hsa-miR-4673	CLIP-seq
MIRT2291223	hsa-miR-4677-5p	CLIP-seq
MIRT1217444	hsa-miR-4685-5p	CLIP-seq
MIRT2291224	hsa-miR-4688	CLIP-seq
MIRT2291225	hsa-miR-4689	CLIP-seq
MIRT2291226	hsa-miR-4696	CLIP-seq
MIRT1217445	hsa-miR-4697-5p	CLIP-seq
MIRT2291227	hsa-miR-4700-3p	CLIP-seq
MIRT2291228	hsa-miR-4703-5p	CLIP-seq
MIRT2291229	hsa-miR-4704-3p	CLIP-seq
MIRT2291230	hsa-miR-4707-5p	CLIP-seq
MIRT2291231	hsa-miR-4710	CLIP-seq
MIRT2291232	hsa-miR-4715-3p	CLIP-seq
MIRT2291233	hsa-miR-4722-3p	CLIP-seq
MIRT2291234	hsa-miR-4723-3p	CLIP-seq
MIRT1217446	hsa-miR-4726-3p	CLIP-seq
MIRT2291235	hsa-miR-4731-3p	CLIP-seq
MIRT2291236	hsa-miR-4731-5p	CLIP-seq
MIRT2291237	hsa-miR-4735-3p	CLIP-seq
MIRT2291238	hsa-miR-4755-3p	CLIP-seq
MIRT2291239	hsa-miR-4761-5p	CLIP-seq
MIRT2291240	hsa-miR-4766-3p	CLIP-seq
MIRT1217447	hsa-miR-4779	CLIP-seq
MIRT1217448	hsa-miR-4782-5p	CLIP-seq
MIRT2291241	hsa-miR-4783-3p	CLIP-seq
MIRT2291242	hsa-miR-4793-3p	CLIP-seq
MIRT2291243	hsa-miR-4801	CLIP-seq
MIRT2291244	hsa-miR-501-3p	CLIP-seq
MIRT2291245	hsa-miR-502-3p	CLIP-seq
MIRT2291246	hsa-miR-506	CLIP-seq
MIRT2291247	hsa-miR-508-5p	CLIP-seq
MIRT2291248	hsa-miR-5095	CLIP-seq
MIRT2291249	hsa-miR-513a-5p	CLIP-seq
MIRT2291250	hsa-miR-513b	CLIP-seq
MIRT2291251	hsa-miR-516a-5p	CLIP-seq
MIRT1217450	hsa-miR-516b	CLIP-seq
MIRT2291252	hsa-miR-520d-5p	CLIP-seq
MIRT2291253	hsa-miR-524-5p	CLIP-seq
MIRT2291254	hsa-miR-541	CLIP-seq
MIRT2291255	hsa-miR-545	CLIP-seq
MIRT2291256	hsa-miR-548an	CLIP-seq
MIRT2291257	hsa-miR-548g	CLIP-seq
MIRT2291258	hsa-miR-552	CLIP-seq
MIRT2291259	hsa-miR-555	CLIP-seq
MIRT1217451	hsa-miR-561	CLIP-seq
MIRT2291260	hsa-miR-581	CLIP-seq
MIRT2291261	hsa-miR-600	CLIP-seq
MIRT2062754	hsa-miR-608	CLIP-seq
MIRT2291262	hsa-miR-624	CLIP-seq
MIRT2291263	hsa-miR-636	CLIP-seq
MIRT2291264	hsa-miR-637	CLIP-seq
MIRT2291265	hsa-miR-654-5p	CLIP-seq
MIRT2291266	hsa-miR-659	CLIP-seq
MIRT2291267	hsa-miR-663b	CLIP-seq
MIRT2291268	hsa-miR-765	CLIP-seq
MIRT2291269	hsa-miR-766	CLIP-seq
MIRT2291270	hsa-miR-885-3p	CLIP-seq
MIRT2291271	hsa-miR-921	CLIP-seq
MIRT2291272	hsa-miR-939	CLIP-seq
MIRT2062756	hsa-miR-940	CLIP-seq
MIRT2291145	hsa-miR-1208	CLIP-seq
MIRT2291148	hsa-miR-124	CLIP-seq
MIRT2291163	hsa-miR-19a	CLIP-seq
MIRT2291164	hsa-miR-19b	CLIP-seq
MIRT2291165	hsa-miR-2116	CLIP-seq
MIRT2062743	hsa-miR-3692	CLIP-seq
MIRT2291196	hsa-miR-3908	CLIP-seq
MIRT2291200	hsa-miR-3942-5p	CLIP-seq
MIRT2291223	hsa-miR-4677-5p	CLIP-seq
MIRT2291228	hsa-miR-4703-5p	CLIP-seq
MIRT2291240	hsa-miR-4766-3p	CLIP-seq
MIRT2291246	hsa-miR-506	CLIP-seq
MIRT2291256	hsa-miR-548an	CLIP-seq
MIRT2291152	hsa-miR-1324	CLIP-seq
MIRT2291168	hsa-miR-2276	CLIP-seq
MIRT2455998	hsa-miR-3154	CLIP-seq
MIRT2455999	hsa-miR-3185	CLIP-seq
MIRT2456000	hsa-miR-3652	CLIP-seq
MIRT2456001	hsa-miR-3665	CLIP-seq
MIRT2291194	hsa-miR-3689d	CLIP-seq
MIRT2456002	hsa-miR-4430	CLIP-seq
MIRT2062748	hsa-miR-4436a	CLIP-seq
MIRT2456003	hsa-miR-4505	CLIP-seq
MIRT2291226	hsa-miR-4696	CLIP-seq
MIRT2291227	hsa-miR-4700-3p	CLIP-seq
MIRT2291239	hsa-miR-4761-5p	CLIP-seq
MIRT2291262	hsa-miR-624	CLIP-seq
MIRT2456004	hsa-miR-647	CLIP-seq
MIRT2456005	hsa-miR-657	CLIP-seq
MIRT2456006	hsa-miR-7	CLIP-seq
MIRT2291268	hsa-miR-765	CLIP-seq
MIRT2291166	hsa-miR-217	CLIP-seq
MIRT2291189	hsa-miR-3620	CLIP-seq
MIRT2291203	hsa-miR-4268	CLIP-seq
MIRT2291207	hsa-miR-4325	CLIP-seq
MIRT2291212	hsa-miR-4448	CLIP-seq
MIRT2291232	hsa-miR-4715-3p	CLIP-seq
MIRT2291242	hsa-miR-4793-3p	CLIP-seq
MIRT2291257	hsa-miR-548g	CLIP-seq
MIRT2291203	hsa-miR-4268	CLIP-seq
MIRT2291212	hsa-miR-4448	CLIP-seq

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA	21873635
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19636380
GO:0000785	Component	Chromatin	IDA	19636380
GO:0001701	Process	In utero embryonic development	IEA
GO:0001739	Component	Sex chromatin	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	19636380, 20543829, 20601937, 21282530, 22493164, 23523425, 24981860, 25416956, 27705803, 28514442, 32296183
GO:0005634	Component	Nucleus	IDA	21282530
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006342	Process	Chromatin silencing	IBA	21873635
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0016573	Process	Histone acetylation	IEA
GO:0016604	Component	Nuclear body	IEA
GO:0031519	Component	PcG protein complex	IDA	21282530, 26151332
GO:0035102	Component	PRC1 complex	IBA	21873635
GO:0035102	Component	PRC1 complex	IDA	19636380
GO:0036353	Process	Histone H2A-K119 monoubiquitination	IBA	21873635
GO:0036353	Process	Histone H2A-K119 monoubiquitination	IMP	26151332
GO:0046872	Function	Metal ion binding	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0070317	Process	Negative regulation of G0 to G1 transition	TAS
GO:1990841	Function	Promoter-specific chromatin binding	IBA	21873635
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
600346	12929	ENSG00000277258

Protein

UniProt ID

P35227

Protein name

Polycomb group RING finger protein 2 (DNA-binding protein Mel-18) (RING finger protein 110) (Zinc finger protein 144)

Protein function

Transcriptional repressor. Binds specifically to the DNA sequence 5'-GACTNGACT-3'. Has tumor suppressor activity. May play a role in control of cell proliferation and/or neural cell development. Regulates proliferation of early T progenitor cell

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13923	zf-C3HC4_2	17 → 56		Domain
PF16207	RAWUL	164 → 228	RAWUL domain RING finger- and WD40-associated ubiquitin-like	Domain

Sequence

MHRTTRIKITELNPHLMCALCGGYFIDATTIVECLHSFCKTCIVRYLETNKYCPMCDVQV
HKTRPLLSIRSDKTLQDIVYKLVPGLFKDEMKRRRDFYAAYPLTEVPNGSNEDRGEVLEQ
EKGALSDDEIVSLSIEFYEGARDRDEKKGPLENGDGDKEKTGVRFLRCPAAMTVMHLAKF
LRNKMDVPSKYKVEVLYEDEPLKEYYTLMDIAYIYPWRRNGPLPLKYRVQPACKRLTLAT
VPTPSEGTNTSGASECESVSDKAPSPATLPATSSSLPSPATPSHGSPSSHGPPATHPTSP
TPPSTASGATTAANGGSLNCLQTPSSTSRGRKMTVNGAPVPPLT

Sequence length

344

Interactions

View interactions

	KEGG		Reactome
	Polycomb repressive complex Signaling pathways regulating pluripotency of stem cells		SUMOylation of DNA damage response and repair proteins SUMOylation of transcription cofactors SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins Transcriptional Regulation by E2F6

Associated diseases

Show/Hide Causal Diseases (10)

Causal
Disease name	Disease term	dbSNP ID	References
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
Autism	Autistic Disorder, Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Developmental delay	Global developmental 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	30343942
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Macrocephaly	Relative macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	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	30343942, 30526864
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872

Show/Hide Unknown Diseases (20)

Unknown
Disease name	Disease term	dbSNP ID	References
Aortic valve insufficiency	Aortic Valve Insufficiency
Brachycephaly	Brachycephaly
Cardiovascular abnormalities	Cardiovascular Abnormalities		30343942
Clinodactyly	Clinodactyly of fingers, Clinodactyly
Congenital camptodactyly	Congenital Camptodactyly
Congenital pectus carinatum	Congenital pectus carinatum
Congenital pectus excavatum	Congenital pectus excavatum
Dysarthria	Dysarthria
Dysmorphic features	Dysmorphic features		30343942
Frontal bossing	Frontal bossing
Gastroesophageal reflux disease	Gastroesophageal reflux disease
High palate	Byzanthine arch palate
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Malocclusion	Class III malocclusion
Microdontia	Microdontia (disorder)
Microstomia	Microstomia
Microtia	Congenital small ears
Plagiocephaly	Plagiocephaly
Sleep apnea	Sleep Apnea, Obstructive
Tricuspid valve prolapse	Tricuspid Valve Prolapse

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