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OSTM1 (osteoclastogenesis associated transmembrane protein 1)

Gene

28962

Osteoclastogenesis associated transmembrane protein 1

OSTM1

GIPN, GL, HSPC019, OPTB5

6q21

This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-ter

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs119460973	A>C,T	Pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs202093691	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs794727287	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1554250938	C>A	Pathogenic	Intron variant
rs1562370077	C>T	Pathogenic	Intron variant
rs1582396088	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

Show/Hide all(608)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007373	hsa-miR-140-5p	Luciferase reporter assay	23389033
MIRT016070	hsa-miR-374b-5p	Sequencing	20371350
MIRT020467	hsa-miR-106b-5p	Microarray	17242205
MIRT021288	hsa-miR-125a-5p	Sequencing	20371350
MIRT029214	hsa-miR-26b-5p	Microarray	19088304
MIRT052255	hsa-let-7b-5p	CLASH	23622248
MIRT725285	hsa-miR-5195-5p	HITS-CLIP	19536157
MIRT725284	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT725283	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT725282	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT725281	hsa-miR-6748-3p	HITS-CLIP	19536157
MIRT725280	hsa-miR-4421	HITS-CLIP	19536157
MIRT725279	hsa-miR-5699-3p	HITS-CLIP	19536157
MIRT725278	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT725277	hsa-miR-5695	HITS-CLIP	19536157
MIRT725276	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT725275	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT725274	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT725273	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT725272	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT725271	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT725270	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT725269	hsa-miR-6798-3p	HITS-CLIP	19536157
MIRT725268	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT725267	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT725266	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT725265	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT640031	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT640032	hsa-miR-520f-3p	HITS-CLIP	23824327
MIRT640031	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT640030	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT640029	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT640028	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT640027	hsa-miR-302e	HITS-CLIP	23824327
MIRT640026	hsa-miR-520b	HITS-CLIP	23824327
MIRT640025	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT640024	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT640023	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT640022	hsa-miR-520e	HITS-CLIP	23824327
MIRT640021	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT640020	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT640019	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT640018	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT640017	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT640016	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT640015	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT640014	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT020467	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT640013	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT640012	hsa-miR-3609	HITS-CLIP	23824327
MIRT640011	hsa-miR-548ah-5p	HITS-CLIP	23824327
MIRT640010	hsa-miR-4796-3p	HITS-CLIP	23824327
MIRT640009	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT640008	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT640007	hsa-miR-6882-3p	HITS-CLIP	23824327
MIRT640006	hsa-miR-5579-3p	HITS-CLIP	23824327
MIRT098053	hsa-miR-6083	HITS-CLIP	23824327
MIRT440060	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT440060	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT725285	hsa-miR-5195-5p	HITS-CLIP	19536157
MIRT725284	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT725283	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT725282	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT725281	hsa-miR-6748-3p	HITS-CLIP	19536157
MIRT725280	hsa-miR-4421	HITS-CLIP	19536157
MIRT725279	hsa-miR-5699-3p	HITS-CLIP	19536157
MIRT725278	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT725277	hsa-miR-5695	HITS-CLIP	19536157
MIRT725276	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT725275	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT725274	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT725273	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT725272	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT725271	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT725270	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT725269	hsa-miR-6798-3p	HITS-CLIP	19536157
MIRT725268	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT725267	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT725266	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT725265	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT640031	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT640032	hsa-miR-520f-3p	HITS-CLIP	23824327
MIRT640031	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT640030	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT640029	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT640028	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT640027	hsa-miR-302e	HITS-CLIP	23824327
MIRT640026	hsa-miR-520b	HITS-CLIP	23824327
MIRT640025	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT640024	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT640023	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT640022	hsa-miR-520e	HITS-CLIP	23824327
MIRT640021	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT640020	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT640019	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT640018	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT640017	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT640016	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT640015	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT640014	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT020467	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT640013	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT640012	hsa-miR-3609	HITS-CLIP	23824327
MIRT640011	hsa-miR-548ah-5p	HITS-CLIP	23824327
MIRT640010	hsa-miR-4796-3p	HITS-CLIP	23824327
MIRT640009	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT640008	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT640007	hsa-miR-6882-3p	HITS-CLIP	23824327
MIRT640006	hsa-miR-5579-3p	HITS-CLIP	23824327
MIRT098053	hsa-miR-6083	HITS-CLIP	23824327
MIRT1207093	hsa-miR-122	CLIP-seq
MIRT1207094	hsa-miR-124	CLIP-seq
MIRT1207095	hsa-miR-1283	CLIP-seq
MIRT1207096	hsa-miR-155	CLIP-seq
MIRT1207097	hsa-miR-18a	CLIP-seq
MIRT1207098	hsa-miR-18b	CLIP-seq
MIRT1207099	hsa-miR-1912	CLIP-seq
MIRT1207100	hsa-miR-200b	CLIP-seq
MIRT1207101	hsa-miR-200c	CLIP-seq
MIRT1207102	hsa-miR-221	CLIP-seq
MIRT1207103	hsa-miR-222	CLIP-seq
MIRT1207104	hsa-miR-24	CLIP-seq
MIRT1207105	hsa-miR-3065-5p	CLIP-seq
MIRT1207106	hsa-miR-3122	CLIP-seq
MIRT1207107	hsa-miR-3130-5p	CLIP-seq
MIRT1207108	hsa-miR-3149	CLIP-seq
MIRT1207109	hsa-miR-3171	CLIP-seq
MIRT1207110	hsa-miR-3174	CLIP-seq
MIRT1207111	hsa-miR-3187-3p	CLIP-seq
MIRT1207112	hsa-miR-3613-3p	CLIP-seq
MIRT1207113	hsa-miR-3653	CLIP-seq
MIRT1207114	hsa-miR-3659	CLIP-seq
MIRT1207115	hsa-miR-3662	CLIP-seq
MIRT1207116	hsa-miR-3664-3p	CLIP-seq
MIRT1207117	hsa-miR-3671	CLIP-seq
MIRT1207118	hsa-miR-3681	CLIP-seq
MIRT1207119	hsa-miR-3689a-3p	CLIP-seq
MIRT1207120	hsa-miR-3689a-5p	CLIP-seq
MIRT1207121	hsa-miR-3689b	CLIP-seq
MIRT1207122	hsa-miR-3689c	CLIP-seq
MIRT1207123	hsa-miR-3689e	CLIP-seq
MIRT1207124	hsa-miR-3689f	CLIP-seq
MIRT1207125	hsa-miR-3692	CLIP-seq
MIRT1207126	hsa-miR-3714	CLIP-seq
MIRT1207127	hsa-miR-371b-5p	CLIP-seq
MIRT1207128	hsa-miR-374c	CLIP-seq
MIRT1207129	hsa-miR-383	CLIP-seq
MIRT1207130	hsa-miR-3907	CLIP-seq
MIRT1207131	hsa-miR-3910	CLIP-seq
MIRT1207132	hsa-miR-3913-5p	CLIP-seq
MIRT1207133	hsa-miR-3919	CLIP-seq
MIRT1207134	hsa-miR-3975	CLIP-seq
MIRT1207135	hsa-miR-3977	CLIP-seq
MIRT1207136	hsa-miR-410	CLIP-seq
MIRT1207137	hsa-miR-4263	CLIP-seq
MIRT1207138	hsa-miR-4276	CLIP-seq
MIRT1207139	hsa-miR-4284	CLIP-seq
MIRT1207140	hsa-miR-4302	CLIP-seq
MIRT1207141	hsa-miR-4317	CLIP-seq
MIRT1207142	hsa-miR-4433	CLIP-seq
MIRT1207143	hsa-miR-4435	CLIP-seq
MIRT1207144	hsa-miR-4453	CLIP-seq
MIRT1207145	hsa-miR-4459	CLIP-seq
MIRT1207146	hsa-miR-4482	CLIP-seq
MIRT1207147	hsa-miR-4484	CLIP-seq
MIRT1207148	hsa-miR-4509	CLIP-seq
MIRT1207149	hsa-miR-4532	CLIP-seq
MIRT1207150	hsa-miR-4538	CLIP-seq
MIRT1207151	hsa-miR-4539	CLIP-seq
MIRT1207152	hsa-miR-4635	CLIP-seq
MIRT1207153	hsa-miR-4639-5p	CLIP-seq
MIRT1207154	hsa-miR-4680-5p	CLIP-seq
MIRT1207155	hsa-miR-4684-5p	CLIP-seq
MIRT1207156	hsa-miR-4701-5p	CLIP-seq
MIRT1207157	hsa-miR-4722-5p	CLIP-seq
MIRT1207158	hsa-miR-4724-5p	CLIP-seq
MIRT1207159	hsa-miR-4728-5p	CLIP-seq
MIRT1207160	hsa-miR-4735-3p	CLIP-seq
MIRT1207161	hsa-miR-4735-5p	CLIP-seq
MIRT1207162	hsa-miR-4744	CLIP-seq
MIRT1207163	hsa-miR-4756-3p	CLIP-seq
MIRT1207164	hsa-miR-4762-5p	CLIP-seq
MIRT1207165	hsa-miR-4766-5p	CLIP-seq
MIRT1207166	hsa-miR-4768-3p	CLIP-seq
MIRT1207167	hsa-miR-4775	CLIP-seq
MIRT1207168	hsa-miR-4795-3p	CLIP-seq
MIRT1207169	hsa-miR-4799-5p	CLIP-seq
MIRT1207170	hsa-miR-488	CLIP-seq
MIRT1207171	hsa-miR-506	CLIP-seq
MIRT1207172	hsa-miR-510	CLIP-seq
MIRT1207173	hsa-miR-511	CLIP-seq
MIRT1207174	hsa-miR-520d-5p	CLIP-seq
MIRT1207175	hsa-miR-524-5p	CLIP-seq
MIRT1207176	hsa-miR-548ac	CLIP-seq
MIRT1207177	hsa-miR-548ae	CLIP-seq
MIRT1207178	hsa-miR-548aj	CLIP-seq
MIRT1207179	hsa-miR-548am	CLIP-seq
MIRT1207180	hsa-miR-548an	CLIP-seq
MIRT1207181	hsa-miR-548d-3p	CLIP-seq
MIRT1207182	hsa-miR-548s	CLIP-seq
MIRT1207183	hsa-miR-548v	CLIP-seq
MIRT1207184	hsa-miR-548x	CLIP-seq
MIRT1207185	hsa-miR-548z	CLIP-seq
MIRT1207186	hsa-miR-576-5p	CLIP-seq
MIRT1207187	hsa-miR-588	CLIP-seq
MIRT1207188	hsa-miR-590-3p	CLIP-seq
MIRT1207189	hsa-miR-593	CLIP-seq
MIRT1207190	hsa-miR-607	CLIP-seq
MIRT1207191	hsa-miR-618	CLIP-seq
MIRT1207192	hsa-miR-635	CLIP-seq
MIRT1207193	hsa-miR-655	CLIP-seq
MIRT1207194	hsa-miR-656	CLIP-seq
MIRT1207195	hsa-miR-9	CLIP-seq
MIRT1207196	hsa-miR-921	CLIP-seq
MIRT1207197	hsa-miR-922	CLIP-seq
MIRT1207198	hsa-miR-940	CLIP-seq
MIRT2059490	hsa-miR-106a	CLIP-seq
MIRT2059491	hsa-miR-106b	CLIP-seq
MIRT2059492	hsa-miR-1305	CLIP-seq
MIRT2059493	hsa-miR-132	CLIP-seq
MIRT2059494	hsa-miR-150	CLIP-seq
MIRT2059495	hsa-miR-17	CLIP-seq
MIRT2059496	hsa-miR-194	CLIP-seq
MIRT1207100	hsa-miR-200b	CLIP-seq
MIRT1207101	hsa-miR-200c	CLIP-seq
MIRT2059497	hsa-miR-20a	CLIP-seq
MIRT2059498	hsa-miR-20b	CLIP-seq
MIRT2059499	hsa-miR-212	CLIP-seq
MIRT2059500	hsa-miR-302a	CLIP-seq
MIRT2059501	hsa-miR-302b	CLIP-seq
MIRT2059502	hsa-miR-302c	CLIP-seq
MIRT2059503	hsa-miR-302d	CLIP-seq
MIRT2059504	hsa-miR-30a	CLIP-seq
MIRT2059505	hsa-miR-30b	CLIP-seq
MIRT2059506	hsa-miR-30c	CLIP-seq
MIRT2059507	hsa-miR-30d	CLIP-seq
MIRT2059508	hsa-miR-30e	CLIP-seq
MIRT2059509	hsa-miR-3140-3p	CLIP-seq
MIRT2059510	hsa-miR-335	CLIP-seq
MIRT1207112	hsa-miR-3613-3p	CLIP-seq
MIRT1207118	hsa-miR-3681	CLIP-seq
MIRT2059511	hsa-miR-372	CLIP-seq
MIRT2059512	hsa-miR-373	CLIP-seq
MIRT1207129	hsa-miR-383	CLIP-seq
MIRT1207133	hsa-miR-3919	CLIP-seq
MIRT1207136	hsa-miR-410	CLIP-seq
MIRT1207142	hsa-miR-4433	CLIP-seq
MIRT2059513	hsa-miR-4437	CLIP-seq
MIRT1207144	hsa-miR-4453	CLIP-seq
MIRT1207149	hsa-miR-4532	CLIP-seq
MIRT1207150	hsa-miR-4538	CLIP-seq
MIRT2059514	hsa-miR-4686	CLIP-seq
MIRT2059515	hsa-miR-4709-5p	CLIP-seq
MIRT2059516	hsa-miR-4726-3p	CLIP-seq
MIRT1207163	hsa-miR-4756-3p	CLIP-seq
MIRT1207167	hsa-miR-4775	CLIP-seq
MIRT2059517	hsa-miR-4789-5p	CLIP-seq
MIRT2059518	hsa-miR-483-3p	CLIP-seq
MIRT2059519	hsa-miR-495	CLIP-seq
MIRT2059520	hsa-miR-496	CLIP-seq
MIRT2059521	hsa-miR-519d	CLIP-seq
MIRT2059522	hsa-miR-520g	CLIP-seq
MIRT2059523	hsa-miR-520h	CLIP-seq
MIRT2059524	hsa-miR-567	CLIP-seq
MIRT2059525	hsa-miR-600	CLIP-seq
MIRT1207190	hsa-miR-607	CLIP-seq
MIRT1207192	hsa-miR-635	CLIP-seq
MIRT1207197	hsa-miR-922	CLIP-seq
MIRT2059526	hsa-miR-93	CLIP-seq
MIRT2287921	hsa-miR-1	CLIP-seq
MIRT2287922	hsa-miR-1279	CLIP-seq
MIRT1207095	hsa-miR-1283	CLIP-seq
MIRT2059493	hsa-miR-132	CLIP-seq
MIRT2287923	hsa-miR-136	CLIP-seq
MIRT2287924	hsa-miR-146b-3p	CLIP-seq
MIRT2059494	hsa-miR-150	CLIP-seq
MIRT2287925	hsa-miR-197	CLIP-seq
MIRT2287926	hsa-miR-206	CLIP-seq
MIRT2059499	hsa-miR-212	CLIP-seq
MIRT2287927	hsa-miR-224	CLIP-seq
MIRT2059504	hsa-miR-30a	CLIP-seq
MIRT2059505	hsa-miR-30b	CLIP-seq
MIRT2059506	hsa-miR-30c	CLIP-seq
MIRT2059507	hsa-miR-30d	CLIP-seq
MIRT2059508	hsa-miR-30e	CLIP-seq
MIRT2287928	hsa-miR-3130-3p	CLIP-seq
MIRT2287929	hsa-miR-3140-5p	CLIP-seq
MIRT2287930	hsa-miR-3157-3p	CLIP-seq
MIRT2287931	hsa-miR-3173-5p	CLIP-seq
MIRT1207110	hsa-miR-3174	CLIP-seq
MIRT2287932	hsa-miR-329	CLIP-seq
MIRT1207112	hsa-miR-3613-3p	CLIP-seq
MIRT2287933	hsa-miR-362-3p	CLIP-seq
MIRT1207116	hsa-miR-3664-3p	CLIP-seq
MIRT1207117	hsa-miR-3671	CLIP-seq
MIRT2287934	hsa-miR-3673	CLIP-seq
MIRT1207118	hsa-miR-3681	CLIP-seq
MIRT1207120	hsa-miR-3689a-5p	CLIP-seq
MIRT1207121	hsa-miR-3689b	CLIP-seq
MIRT1207123	hsa-miR-3689e	CLIP-seq
MIRT1207124	hsa-miR-3689f	CLIP-seq
MIRT1207127	hsa-miR-371b-5p	CLIP-seq
MIRT2287935	hsa-miR-374a	CLIP-seq
MIRT2287936	hsa-miR-374b	CLIP-seq
MIRT1207129	hsa-miR-383	CLIP-seq
MIRT1207133	hsa-miR-3919	CLIP-seq
MIRT2287937	hsa-miR-3941	CLIP-seq
MIRT1207137	hsa-miR-4263	CLIP-seq
MIRT1207138	hsa-miR-4276	CLIP-seq
MIRT2287938	hsa-miR-4427	CLIP-seq
MIRT1207142	hsa-miR-4433	CLIP-seq
MIRT1207144	hsa-miR-4453	CLIP-seq
MIRT1207145	hsa-miR-4459	CLIP-seq
MIRT2287939	hsa-miR-4495	CLIP-seq
MIRT2287940	hsa-miR-4503	CLIP-seq
MIRT2287941	hsa-miR-450b-5p	CLIP-seq
MIRT1207150	hsa-miR-4538	CLIP-seq
MIRT1207155	hsa-miR-4684-5p	CLIP-seq
MIRT2059514	hsa-miR-4686	CLIP-seq
MIRT2059515	hsa-miR-4709-5p	CLIP-seq
MIRT2059516	hsa-miR-4726-3p	CLIP-seq
MIRT1207163	hsa-miR-4756-3p	CLIP-seq
MIRT1207164	hsa-miR-4762-5p	CLIP-seq
MIRT1207166	hsa-miR-4768-3p	CLIP-seq
MIRT1207167	hsa-miR-4775	CLIP-seq
MIRT2287942	hsa-miR-4793-3p	CLIP-seq
MIRT2059519	hsa-miR-495	CLIP-seq
MIRT1207172	hsa-miR-510	CLIP-seq
MIRT1207174	hsa-miR-520d-5p	CLIP-seq
MIRT1207175	hsa-miR-524-5p	CLIP-seq
MIRT2287943	hsa-miR-548c-3p	CLIP-seq
MIRT1207186	hsa-miR-576-5p	CLIP-seq
MIRT2287944	hsa-miR-577	CLIP-seq
MIRT2287945	hsa-miR-582-5p	CLIP-seq
MIRT1207189	hsa-miR-593	CLIP-seq
MIRT2059525	hsa-miR-600	CLIP-seq
MIRT2287946	hsa-miR-603	CLIP-seq
MIRT1207190	hsa-miR-607	CLIP-seq
MIRT2287947	hsa-miR-613	CLIP-seq
MIRT2287948	hsa-miR-616	CLIP-seq
MIRT1207191	hsa-miR-618	CLIP-seq
MIRT1207192	hsa-miR-635	CLIP-seq
MIRT2287949	hsa-miR-643	CLIP-seq
MIRT2287950	hsa-miR-874	CLIP-seq
MIRT1207196	hsa-miR-921	CLIP-seq
MIRT1207197	hsa-miR-922	CLIP-seq
MIRT2391985	hsa-miR-149	CLIP-seq
MIRT1207104	hsa-miR-24	CLIP-seq
MIRT2059504	hsa-miR-30a	CLIP-seq
MIRT2059505	hsa-miR-30b	CLIP-seq
MIRT2059506	hsa-miR-30c	CLIP-seq
MIRT2059507	hsa-miR-30d	CLIP-seq
MIRT2059508	hsa-miR-30e	CLIP-seq
MIRT2287928	hsa-miR-3130-3p	CLIP-seq
MIRT1207139	hsa-miR-4284	CLIP-seq
MIRT1207141	hsa-miR-4317	CLIP-seq
MIRT1207145	hsa-miR-4459	CLIP-seq
MIRT2287939	hsa-miR-4495	CLIP-seq
MIRT1207154	hsa-miR-4680-5p	CLIP-seq
MIRT2287942	hsa-miR-4793-3p	CLIP-seq
MIRT1207191	hsa-miR-618	CLIP-seq
MIRT2439150	hsa-miR-2277-3p	CLIP-seq
MIRT1207118	hsa-miR-3681	CLIP-seq
MIRT1207129	hsa-miR-383	CLIP-seq
MIRT1207133	hsa-miR-3919	CLIP-seq
MIRT1207138	hsa-miR-4276	CLIP-seq
MIRT1207163	hsa-miR-4756-3p	CLIP-seq
MIRT2059519	hsa-miR-495	CLIP-seq
MIRT1207197	hsa-miR-922	CLIP-seq
MIRT2455751	hsa-miR-3148	CLIP-seq
MIRT2455752	hsa-miR-4795-5p	CLIP-seq
MIRT2391985	hsa-miR-149	CLIP-seq
MIRT2465787	hsa-miR-624	CLIP-seq
MIRT2586097	hsa-miR-105	CLIP-seq
MIRT2059490	hsa-miR-106a	CLIP-seq
MIRT2059491	hsa-miR-106b	CLIP-seq
MIRT1207093	hsa-miR-122	CLIP-seq
MIRT2586098	hsa-miR-1276	CLIP-seq
MIRT2059492	hsa-miR-1305	CLIP-seq
MIRT2586099	hsa-miR-137	CLIP-seq
MIRT1207096	hsa-miR-155	CLIP-seq
MIRT2059495	hsa-miR-17	CLIP-seq
MIRT1207097	hsa-miR-18a	CLIP-seq
MIRT1207098	hsa-miR-18b	CLIP-seq
MIRT1207099	hsa-miR-1912	CLIP-seq
MIRT2287925	hsa-miR-197	CLIP-seq
MIRT1207100	hsa-miR-200b	CLIP-seq
MIRT1207101	hsa-miR-200c	CLIP-seq
MIRT2586100	hsa-miR-203	CLIP-seq
MIRT2059497	hsa-miR-20a	CLIP-seq
MIRT2059498	hsa-miR-20b	CLIP-seq
MIRT1207102	hsa-miR-221	CLIP-seq
MIRT1207103	hsa-miR-222	CLIP-seq
MIRT2287927	hsa-miR-224	CLIP-seq
MIRT2586101	hsa-miR-2909	CLIP-seq
MIRT2059500	hsa-miR-302a	CLIP-seq
MIRT2059501	hsa-miR-302b	CLIP-seq
MIRT2059502	hsa-miR-302c	CLIP-seq
MIRT2059503	hsa-miR-302d	CLIP-seq
MIRT2059504	hsa-miR-30a	CLIP-seq
MIRT2059505	hsa-miR-30b	CLIP-seq
MIRT2059506	hsa-miR-30c	CLIP-seq
MIRT2059507	hsa-miR-30d	CLIP-seq
MIRT2059508	hsa-miR-30e	CLIP-seq
MIRT2586102	hsa-miR-3121-3p	CLIP-seq
MIRT2287928	hsa-miR-3130-3p	CLIP-seq
MIRT1207107	hsa-miR-3130-5p	CLIP-seq
MIRT2586103	hsa-miR-3145-3p	CLIP-seq
MIRT2586104	hsa-miR-3146	CLIP-seq
MIRT1207108	hsa-miR-3149	CLIP-seq
MIRT2287932	hsa-miR-329	CLIP-seq
MIRT2586105	hsa-miR-340	CLIP-seq
MIRT2586106	hsa-miR-34c-3p	CLIP-seq
MIRT1207112	hsa-miR-3613-3p	CLIP-seq
MIRT2287933	hsa-miR-362-3p	CLIP-seq
MIRT1207114	hsa-miR-3659	CLIP-seq
MIRT2586107	hsa-miR-3663-3p	CLIP-seq
MIRT1207117	hsa-miR-3671	CLIP-seq
MIRT2586108	hsa-miR-3678-3p	CLIP-seq
MIRT1207120	hsa-miR-3689a-5p	CLIP-seq
MIRT1207121	hsa-miR-3689b	CLIP-seq
MIRT1207123	hsa-miR-3689e	CLIP-seq
MIRT1207124	hsa-miR-3689f	CLIP-seq
MIRT1207127	hsa-miR-371b-5p	CLIP-seq
MIRT2059511	hsa-miR-372	CLIP-seq
MIRT2059512	hsa-miR-373	CLIP-seq
MIRT1207128	hsa-miR-374c	CLIP-seq
MIRT1207130	hsa-miR-3907	CLIP-seq
MIRT2586109	hsa-miR-3908	CLIP-seq
MIRT2586110	hsa-miR-3920	CLIP-seq
MIRT2287937	hsa-miR-3941	CLIP-seq
MIRT1207135	hsa-miR-3977	CLIP-seq
MIRT1207137	hsa-miR-4263	CLIP-seq
MIRT1207140	hsa-miR-4302	CLIP-seq
MIRT2586111	hsa-miR-4303	CLIP-seq
MIRT2586112	hsa-miR-4311	CLIP-seq
MIRT1207146	hsa-miR-4482	CLIP-seq
MIRT1207147	hsa-miR-4484	CLIP-seq
MIRT2287939	hsa-miR-4495	CLIP-seq
MIRT2586113	hsa-miR-4501	CLIP-seq
MIRT1207148	hsa-miR-4509	CLIP-seq
MIRT2287941	hsa-miR-450b-5p	CLIP-seq
MIRT2586114	hsa-miR-466	CLIP-seq
MIRT2586115	hsa-miR-4672	CLIP-seq
MIRT2059514	hsa-miR-4686	CLIP-seq
MIRT2586116	hsa-miR-4699-5p	CLIP-seq
MIRT1207160	hsa-miR-4735-3p	CLIP-seq
MIRT1207161	hsa-miR-4735-5p	CLIP-seq
MIRT1207162	hsa-miR-4744	CLIP-seq
MIRT2586117	hsa-miR-4762-3p	CLIP-seq
MIRT1207167	hsa-miR-4775	CLIP-seq
MIRT2287942	hsa-miR-4793-3p	CLIP-seq
MIRT1207169	hsa-miR-4799-5p	CLIP-seq
MIRT1207170	hsa-miR-488	CLIP-seq
MIRT2586118	hsa-miR-507	CLIP-seq
MIRT2059521	hsa-miR-519d	CLIP-seq
MIRT1207174	hsa-miR-520d-5p	CLIP-seq
MIRT2586119	hsa-miR-520f	CLIP-seq
MIRT1207175	hsa-miR-524-5p	CLIP-seq
MIRT2586120	hsa-miR-548a-5p	CLIP-seq
MIRT2586121	hsa-miR-548ab	CLIP-seq
MIRT1207177	hsa-miR-548ae	CLIP-seq
MIRT2586122	hsa-miR-548ah	CLIP-seq
MIRT1207178	hsa-miR-548aj	CLIP-seq
MIRT2586123	hsa-miR-548ak	CLIP-seq
MIRT1207179	hsa-miR-548am	CLIP-seq
MIRT1207180	hsa-miR-548an	CLIP-seq
MIRT2586124	hsa-miR-548b-5p	CLIP-seq
MIRT2586125	hsa-miR-548c-5p	CLIP-seq
MIRT2586126	hsa-miR-548d-5p	CLIP-seq
MIRT2586127	hsa-miR-548h	CLIP-seq
MIRT2586128	hsa-miR-548i	CLIP-seq
MIRT2586129	hsa-miR-548j	CLIP-seq
MIRT2586130	hsa-miR-548k	CLIP-seq
MIRT2586131	hsa-miR-548l	CLIP-seq
MIRT1207183	hsa-miR-548v	CLIP-seq
MIRT2586132	hsa-miR-548w	CLIP-seq
MIRT1207184	hsa-miR-548x	CLIP-seq
MIRT2586133	hsa-miR-548y	CLIP-seq
MIRT2586134	hsa-miR-557	CLIP-seq
MIRT2586135	hsa-miR-559	CLIP-seq
MIRT1207186	hsa-miR-576-5p	CLIP-seq
MIRT2586136	hsa-miR-579	CLIP-seq
MIRT2586137	hsa-miR-583	CLIP-seq
MIRT1207188	hsa-miR-590-3p	CLIP-seq
MIRT2287946	hsa-miR-603	CLIP-seq
MIRT1207190	hsa-miR-607	CLIP-seq
MIRT2287948	hsa-miR-616	CLIP-seq
MIRT1207191	hsa-miR-618	CLIP-seq
MIRT2586138	hsa-miR-628-5p	CLIP-seq
MIRT1207193	hsa-miR-655	CLIP-seq
MIRT2059526	hsa-miR-93	CLIP-seq
MIRT2586097	hsa-miR-105	CLIP-seq
MIRT2059490	hsa-miR-106a	CLIP-seq
MIRT2059491	hsa-miR-106b	CLIP-seq
MIRT1207093	hsa-miR-122	CLIP-seq
MIRT2586098	hsa-miR-1276	CLIP-seq
MIRT2059492	hsa-miR-1305	CLIP-seq
MIRT2586099	hsa-miR-137	CLIP-seq
MIRT1207096	hsa-miR-155	CLIP-seq
MIRT2059495	hsa-miR-17	CLIP-seq
MIRT1207099	hsa-miR-1912	CLIP-seq
MIRT2686911	hsa-miR-198	CLIP-seq
MIRT1207100	hsa-miR-200b	CLIP-seq
MIRT1207101	hsa-miR-200c	CLIP-seq
MIRT2586100	hsa-miR-203	CLIP-seq
MIRT2059497	hsa-miR-20a	CLIP-seq
MIRT2059498	hsa-miR-20b	CLIP-seq
MIRT1207102	hsa-miR-221	CLIP-seq
MIRT1207103	hsa-miR-222	CLIP-seq
MIRT2686912	hsa-miR-2467-3p	CLIP-seq
MIRT2586101	hsa-miR-2909	CLIP-seq
MIRT2059500	hsa-miR-302a	CLIP-seq
MIRT2059501	hsa-miR-302b	CLIP-seq
MIRT2059502	hsa-miR-302c	CLIP-seq
MIRT2059503	hsa-miR-302d	CLIP-seq
MIRT2059504	hsa-miR-30a	CLIP-seq
MIRT2059505	hsa-miR-30b	CLIP-seq
MIRT2059506	hsa-miR-30c	CLIP-seq
MIRT2059507	hsa-miR-30d	CLIP-seq
MIRT2059508	hsa-miR-30e	CLIP-seq
MIRT2586102	hsa-miR-3121-3p	CLIP-seq
MIRT2287928	hsa-miR-3130-3p	CLIP-seq
MIRT1207107	hsa-miR-3130-5p	CLIP-seq
MIRT2586103	hsa-miR-3145-3p	CLIP-seq
MIRT2586104	hsa-miR-3146	CLIP-seq
MIRT1207108	hsa-miR-3149	CLIP-seq
MIRT2287932	hsa-miR-329	CLIP-seq
MIRT2586106	hsa-miR-34c-3p	CLIP-seq
MIRT1207112	hsa-miR-3613-3p	CLIP-seq
MIRT2287933	hsa-miR-362-3p	CLIP-seq
MIRT1207114	hsa-miR-3659	CLIP-seq
MIRT2586107	hsa-miR-3663-3p	CLIP-seq
MIRT2686913	hsa-miR-3663-5p	CLIP-seq
MIRT1207117	hsa-miR-3671	CLIP-seq
MIRT2586108	hsa-miR-3678-3p	CLIP-seq
MIRT1207120	hsa-miR-3689a-5p	CLIP-seq
MIRT1207121	hsa-miR-3689b	CLIP-seq
MIRT1207123	hsa-miR-3689e	CLIP-seq
MIRT1207124	hsa-miR-3689f	CLIP-seq
MIRT2059511	hsa-miR-372	CLIP-seq
MIRT2059512	hsa-miR-373	CLIP-seq
MIRT1207128	hsa-miR-374c	CLIP-seq
MIRT2586109	hsa-miR-3908	CLIP-seq
MIRT2586110	hsa-miR-3920	CLIP-seq
MIRT2287937	hsa-miR-3941	CLIP-seq
MIRT1207135	hsa-miR-3977	CLIP-seq
MIRT1207137	hsa-miR-4263	CLIP-seq
MIRT1207140	hsa-miR-4302	CLIP-seq
MIRT2586111	hsa-miR-4303	CLIP-seq
MIRT2586112	hsa-miR-4311	CLIP-seq
MIRT1207146	hsa-miR-4482	CLIP-seq
MIRT1207147	hsa-miR-4484	CLIP-seq
MIRT2287939	hsa-miR-4495	CLIP-seq
MIRT2586113	hsa-miR-4501	CLIP-seq
MIRT1207148	hsa-miR-4509	CLIP-seq
MIRT2287941	hsa-miR-450b-5p	CLIP-seq
MIRT2686914	hsa-miR-4645-5p	CLIP-seq
MIRT2586114	hsa-miR-466	CLIP-seq
MIRT2586115	hsa-miR-4672	CLIP-seq
MIRT2686915	hsa-miR-4673	CLIP-seq
MIRT2059514	hsa-miR-4686	CLIP-seq
MIRT2586116	hsa-miR-4699-5p	CLIP-seq
MIRT1207161	hsa-miR-4735-5p	CLIP-seq
MIRT1207162	hsa-miR-4744	CLIP-seq
MIRT2586117	hsa-miR-4762-3p	CLIP-seq
MIRT1207167	hsa-miR-4775	CLIP-seq
MIRT2686916	hsa-miR-4781-3p	CLIP-seq
MIRT2287942	hsa-miR-4793-3p	CLIP-seq
MIRT1207169	hsa-miR-4799-5p	CLIP-seq
MIRT2586118	hsa-miR-507	CLIP-seq
MIRT2059521	hsa-miR-519d	CLIP-seq
MIRT1207174	hsa-miR-520d-5p	CLIP-seq
MIRT2586119	hsa-miR-520f	CLIP-seq
MIRT1207175	hsa-miR-524-5p	CLIP-seq
MIRT2586120	hsa-miR-548a-5p	CLIP-seq
MIRT2586121	hsa-miR-548ab	CLIP-seq
MIRT1207177	hsa-miR-548ae	CLIP-seq
MIRT2586122	hsa-miR-548ah	CLIP-seq
MIRT1207178	hsa-miR-548aj	CLIP-seq
MIRT2586123	hsa-miR-548ak	CLIP-seq
MIRT1207179	hsa-miR-548am	CLIP-seq
MIRT1207180	hsa-miR-548an	CLIP-seq
MIRT2586124	hsa-miR-548b-5p	CLIP-seq
MIRT2586125	hsa-miR-548c-5p	CLIP-seq
MIRT2586126	hsa-miR-548d-5p	CLIP-seq
MIRT2586127	hsa-miR-548h	CLIP-seq
MIRT2586128	hsa-miR-548i	CLIP-seq
MIRT2586129	hsa-miR-548j	CLIP-seq
MIRT2586130	hsa-miR-548k	CLIP-seq
MIRT2586131	hsa-miR-548l	CLIP-seq
MIRT1207183	hsa-miR-548v	CLIP-seq
MIRT2586132	hsa-miR-548w	CLIP-seq
MIRT1207184	hsa-miR-548x	CLIP-seq
MIRT2586133	hsa-miR-548y	CLIP-seq
MIRT2586134	hsa-miR-557	CLIP-seq
MIRT2586135	hsa-miR-559	CLIP-seq
MIRT1207186	hsa-miR-576-5p	CLIP-seq
MIRT2586136	hsa-miR-579	CLIP-seq
MIRT2586137	hsa-miR-583	CLIP-seq
MIRT1207188	hsa-miR-590-3p	CLIP-seq
MIRT2287946	hsa-miR-603	CLIP-seq
MIRT1207190	hsa-miR-607	CLIP-seq
MIRT2287948	hsa-miR-616	CLIP-seq
MIRT1207191	hsa-miR-618	CLIP-seq
MIRT2586138	hsa-miR-628-5p	CLIP-seq
MIRT1207193	hsa-miR-655	CLIP-seq
MIRT2059526	hsa-miR-93	CLIP-seq

Show/Hide all(5)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0030316	Process	Osteoclast differentiation	IBA	21873635
GO:0034220	Process	Ion transmembrane transport	TAS

MIM	HGNC	e!Ensembl
607649	21652	ENSG00000081087

Protein

UniProt ID

Q86WC4

Protein name

Osteopetrosis-associated transmembrane protein 1 (Chloride channel 7 beta subunit)

Protein function

Required for osteoclast and melanocyte maturation and function.

PDB

7BXU , 7CQ5 , 7CQ6 , 7CQ7 , 7JM7 , 8HVT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09777	OSTMP1	84 → 328	Osteopetrosis-associated transmembrane protein 1 precursor	Family

Sequence

MEPGPTAAQRRCSLPPWLPLGLLLWSGLALGALPFGSSPHRVFHDLLSEQQLLEVEDLSL
SLLQGGGLGPLSLPPDLPDLDPECRELLLDFANSSAELTGCLVRSARPVRLCQTCYPLFQ
QVVSKMDNISRAAGNTSESQSCARSLLMADRMQIVVILSEFFNTTWQEANCANCLTNNSE
ELSNSTVYFLNLFNHTLTCFEHNLQGNAHSLLQTKNYSEVCKNCREAYKTLSSLYSEMQK
MNELENKAEPGTHLCIDVEDAMNITRKLWSRTFNCSVPCSDTVPVIAVSVFILFLPVVFY
LSSFLHSEQKKRKLILPKRLKSSTSFANIQENSN

Sequence length

334

Interactions

View interactions

	Reactome
			Stimuli-sensing channels

Associated diseases

Show/Hide Causal Diseases (12)

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
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
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
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hyperbilirubinemia	Hyperbilirubinemia	rs34993780, rs587784535, rs797046090, rs797046091
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
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
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Osteopetrosis	Osteopetrosis, Osteopetrosis, Autosomal Recessive 5	rs786205055, rs1562370077, rs119460973, rs1554996130, rs137853149, rs751881962, rs137853150, rs137853151, rs2134438856, rs121908669, rs121908670, rs121908671, rs121908673, rs121908655, rs121908656, rs121908658, rs121908659, rs121434432, rs121434433, rs121434434, rs121434435, rs121434436, rs2137905441, rs121909072, rs863223288, rs398123011, rs387907576, rs397515539, rs267603829, rs587777490, rs139617644, rs794727287, rs573750741, rs886048594, rs777785526, rs1057517365, rs760956030, rs757788894, rs1554250938, rs367567630, rs1208311085, rs1554995350, rs1554995341, rs774308815, rs1458295257, rs1554997884, rs200851583, rs1554998061, rs758977199, rs1554999516, rs371263807, rs1475338876, rs917505107, rs1554995381, rs1554995582, rs1554995706, rs1554997818, rs1554997997, rs748659068, rs377303800, rs1554995009, rs1554999205, rs1300297240, rs1554995330, rs1385741705, rs1554995522, rs1392364437, rs749361897, rs1159666762, rs1269558164, rs1489993984, rs1439348400, rs559224144, rs1567759023, rs1567263375, rs1565156743, rs1590817956, rs1590819834, rs377215024, rs1582396088, rs1353879401, rs1590804397, rs1590819770, rs922106856, rs776436008, rs1855347940, rs761918801, rs1064794323
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Seizure	Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Show/Hide Unknown Diseases (13)

Unknown
Disease name	Disease term	dbSNP ID	References
Blood coagulation disorders	Blood Coagulation Disorders
Cerebral atrophy	Cerebral atrophy
Cranial nerve paralysis	Cranial nerve palsies
Dwarfism	Dwarfism
Hyperostosis of skull	Hyperostosis of skull
Hypoplastic hippocampus	Hypoplastic hippocampus
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	29187746
Micrognathism	Micrognathism
Nervous system diseases	Peripheral Nervous System Diseases
Osteopetrosis with neuroaxonal dysplasia	Osteopetrosis and infantile neuroaxonal dystrophy, Infantile osteopetrosis with neuroaxonal dysplasia		23685543
Partial agenesis of corpus callosum	Partial agenesis of corpus callosum
Respiratory failure	Respiratory Failure
Spastic quadriplegia	Spastic Quadriplegia

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