OSTM1 (osteoclastogenesis associated transmembrane protein 1)

Gene

• Entrez ID: 28962
• Gene name: Osteoclastogenesis associated transmembrane protein 1
• Gene symbol: OSTM1
• Synonyms (NCBI Gene): GIPN, GL, HSPC019, OPTB5
• Chromosome: 6
• Chromosome location: 6q21
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32851177, 33961781, 35271311
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	21527911
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0016020	Component	Membrane	IEA
GO:0030316	Process	Osteoclast differentiation	IBA
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030321	Process	Transepithelial chloride transport	IDA	32851177
GO:0034707	Component	Chloride channel complex	IPI	32851177

Other IDs

• MIM: 607649
• HGNC: 21652
• e!Ensembl: 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

Pathways

Reactome:

Stimuli-sensing channels

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive osteopetrosis 5	Pathogenic; Likely pathogenic	rs2114593143, rs1562370077, rs119460973, rs794727287, rs752090052, rs761026137, rs1554250938, rs1582396088	RCV005253964 RCV000003076 RCV000003078 RCV000175853 RCV005037005 RCV004595210 RCV000578346 RCV000987757	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteopetrosis	Likely pathogenic	rs2482241906	RCV003226798	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTM1-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	17922613	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	15108279, 31369791		★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	17922613	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28612835	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	17922613	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31369791		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31369791		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	24159188		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperostosis of skull	Hyperostosis Of Skull	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic hippocampus	Hypoplastic hippocampus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile malignant osteopetrosis	Malignant Osteopetrosis	BEFREE	23685543		★☆☆☆☆ Found in Text Mining only
Infantile osteopetrosis with neuroaxonal dysplasia	Osteopetrosis With Neuroaxonal Dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29187746		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	17922613	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28612835, 35902071	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28612835		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	16813530		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29297601		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	LHGDN	12627228, 17922613, 17985267, 18296023		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopetrosis	Osteopetrosis	BEFREE	15108279, 17922613, 17985267, 18296023, 18790735, 18853181, 23723021, 24159188, 24719316, 28339032, 29296943, 29297601		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopetrosis	Osteopetrosis	Pubtator	21527911, 32851177, 34753502, 35902071, 39875016	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopetrosis	Osteopetrosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopetrosis and infantile neuroaxonal dystrophy	Osteopetrosis With Neuroaxonal Dysplasia	ORPHANET_DG	23685543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis Autosomal Recessive 1	Osteopetrosis	Pubtator	17922613, 19507210	Associate	★☆☆☆☆ Found in Text Mining only
Osteopetrosis Autosomal Recessive 5	Osteopetrosis	Pubtator	35902071	Associate	★☆☆☆☆ Found in Text Mining only
Osteopetrosis mild autosomal recessive form	Osteopetrosis	Pubtator	17922613, 28816234, 35902071	Associate	★☆☆☆☆ Found in Text Mining only
Osteopetrosis, Autosomal Recessive 5	Osteopetrosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 5	Osteopetrosis	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 5	Osteopetrosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	29297601		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	17922613	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34398824	Associate	★☆☆☆☆ Found in Text Mining only