MBTPS2 (membrane bound transcription factor peptidase, site 2)

Gene

• Entrez ID: 51360
• Gene name: Membrane bound transcription factor peptidase, site 2
• Gene symbol: MBTPS2
• Synonyms (NCBI Gene): BRESEK, IFAP, KFSD, KFSDX, OI19, OLMSX, S2P
• Chromosome: X
• Chromosome location: Xp22.12
• Summary: This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been as

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs122468176	A>T	Pathogenic	Coding sequence variant, missense variant
rs122468177	G>A	Pathogenic	Coding sequence variant, missense variant
rs122468178	G>A	Pathogenic	Coding sequence variant, missense variant
rs122468179	T>C	Pathogenic	Coding sequence variant, missense variant
rs122468180	G>T	Pathogenic	Coding sequence variant, missense variant
rs587776867	A>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587777305	T>G	Pathogenic	Intron variant
rs587777306	T>C	Pathogenic	Missense variant, coding sequence variant
rs1085307977	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555986267	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555986287	G>C	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT036430	hsa-miR-1226-3p	CLASH	23622248
MIRT721932	hsa-miR-6796-3p	HITS-CLIP	19536157
MIRT721931	hsa-miR-205-3p	HITS-CLIP	19536157
MIRT721930	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT721929	hsa-miR-5695	HITS-CLIP	19536157
MIRT721928	hsa-miR-1256	HITS-CLIP	19536157
MIRT721927	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT721926	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT721932	hsa-miR-6796-3p	HITS-CLIP	19536157
MIRT721931	hsa-miR-205-3p	HITS-CLIP	19536157
MIRT721930	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT721929	hsa-miR-5695	HITS-CLIP	19536157
MIRT721928	hsa-miR-1256	HITS-CLIP	19536157
MIRT721927	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT721926	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT1136203	hsa-miR-10a	CLIP-seq
MIRT1136204	hsa-miR-10b	CLIP-seq
MIRT1136205	hsa-miR-1200	CLIP-seq
MIRT1136206	hsa-miR-1227	CLIP-seq
MIRT1136207	hsa-miR-1270	CLIP-seq
MIRT1136208	hsa-miR-132	CLIP-seq
MIRT1136209	hsa-miR-141	CLIP-seq
MIRT1136210	hsa-miR-15a	CLIP-seq
MIRT1136211	hsa-miR-15b	CLIP-seq
MIRT1136212	hsa-miR-16	CLIP-seq
MIRT1136213	hsa-miR-195	CLIP-seq
MIRT1136214	hsa-miR-200a	CLIP-seq
MIRT1136215	hsa-miR-203	CLIP-seq
MIRT1136216	hsa-miR-212	CLIP-seq
MIRT1136217	hsa-miR-2467-3p	CLIP-seq
MIRT1136218	hsa-miR-28-5p	CLIP-seq
MIRT1136219	hsa-miR-2964a-5p	CLIP-seq
MIRT1136220	hsa-miR-30a	CLIP-seq
MIRT1136221	hsa-miR-30b	CLIP-seq
MIRT1136222	hsa-miR-30c	CLIP-seq
MIRT1136223	hsa-miR-30d	CLIP-seq
MIRT1136224	hsa-miR-30e	CLIP-seq
MIRT1136225	hsa-miR-3136-5p	CLIP-seq
MIRT1136226	hsa-miR-3139	CLIP-seq
MIRT1136227	hsa-miR-3163	CLIP-seq
MIRT1136228	hsa-miR-338-5p	CLIP-seq
MIRT1136229	hsa-miR-3613-3p	CLIP-seq
MIRT1136230	hsa-miR-3661	CLIP-seq
MIRT1136231	hsa-miR-3662	CLIP-seq
MIRT1136232	hsa-miR-3667-5p	CLIP-seq
MIRT1136233	hsa-miR-3678-3p	CLIP-seq
MIRT1136234	hsa-miR-3691-3p	CLIP-seq
MIRT1136235	hsa-miR-377	CLIP-seq
MIRT1136236	hsa-miR-3914	CLIP-seq
MIRT1136237	hsa-miR-3977	CLIP-seq
MIRT1136238	hsa-miR-424	CLIP-seq
MIRT1136239	hsa-miR-4308	CLIP-seq
MIRT1136240	hsa-miR-432	CLIP-seq
MIRT1136241	hsa-miR-4324	CLIP-seq
MIRT1136242	hsa-miR-4439	CLIP-seq
MIRT1136243	hsa-miR-4468	CLIP-seq
MIRT1136244	hsa-miR-4495	CLIP-seq
MIRT1136245	hsa-miR-4513	CLIP-seq
MIRT1136246	hsa-miR-4531	CLIP-seq
MIRT1136247	hsa-miR-4633-3p	CLIP-seq
MIRT1136248	hsa-miR-4698	CLIP-seq
MIRT1136249	hsa-miR-4747-3p	CLIP-seq
MIRT1136250	hsa-miR-4755-3p	CLIP-seq
MIRT1136251	hsa-miR-4773	CLIP-seq
MIRT1136252	hsa-miR-497	CLIP-seq
MIRT1136253	hsa-miR-518a-5p	CLIP-seq
MIRT1136254	hsa-miR-527	CLIP-seq
MIRT1136255	hsa-miR-544b	CLIP-seq
MIRT1136256	hsa-miR-548a-3p	CLIP-seq
MIRT1136257	hsa-miR-548ae	CLIP-seq
MIRT1136258	hsa-miR-548aj	CLIP-seq
MIRT1136259	hsa-miR-548am	CLIP-seq
MIRT1136260	hsa-miR-548e	CLIP-seq
MIRT1136261	hsa-miR-548f	CLIP-seq
MIRT1136262	hsa-miR-548g	CLIP-seq
MIRT1136263	hsa-miR-548x	CLIP-seq
MIRT1136264	hsa-miR-620	CLIP-seq
MIRT1136265	hsa-miR-631	CLIP-seq
MIRT1136266	hsa-miR-665	CLIP-seq
MIRT1136267	hsa-miR-708	CLIP-seq
MIRT1136268	hsa-miR-873	CLIP-seq
MIRT2038744	hsa-miR-1206	CLIP-seq
MIRT2038745	hsa-miR-1224-5p	CLIP-seq
MIRT1136207	hsa-miR-1270	CLIP-seq
MIRT2038746	hsa-miR-1305	CLIP-seq
MIRT2038747	hsa-miR-135a	CLIP-seq
MIRT2038748	hsa-miR-135b	CLIP-seq
MIRT2038749	hsa-miR-138	CLIP-seq
MIRT2038750	hsa-miR-140-3p	CLIP-seq
MIRT1136209	hsa-miR-141	CLIP-seq
MIRT1136214	hsa-miR-200a	CLIP-seq
MIRT2038751	hsa-miR-2052	CLIP-seq
MIRT2038752	hsa-miR-2054	CLIP-seq
MIRT2038753	hsa-miR-217	CLIP-seq
MIRT2038754	hsa-miR-24	CLIP-seq
MIRT1136218	hsa-miR-28-5p	CLIP-seq
MIRT1136219	hsa-miR-2964a-5p	CLIP-seq
MIRT2038755	hsa-miR-300	CLIP-seq
MIRT1136226	hsa-miR-3139	CLIP-seq
MIRT2038756	hsa-miR-3182	CLIP-seq
MIRT2038757	hsa-miR-375	CLIP-seq
MIRT2038758	hsa-miR-381	CLIP-seq
MIRT1136236	hsa-miR-3914	CLIP-seq
MIRT2038759	hsa-miR-3974	CLIP-seq
MIRT1136237	hsa-miR-3977	CLIP-seq
MIRT2038760	hsa-miR-4272	CLIP-seq
MIRT2038761	hsa-miR-4284	CLIP-seq
MIRT2038762	hsa-miR-4299	CLIP-seq
MIRT2038763	hsa-miR-4300	CLIP-seq
MIRT1136240	hsa-miR-432	CLIP-seq
MIRT2038764	hsa-miR-4477b	CLIP-seq
MIRT2038765	hsa-miR-4528	CLIP-seq
MIRT1136246	hsa-miR-4531	CLIP-seq
MIRT1136247	hsa-miR-4633-3p	CLIP-seq
MIRT2038766	hsa-miR-4659a-3p	CLIP-seq
MIRT2038767	hsa-miR-4659b-3p	CLIP-seq
MIRT2038768	hsa-miR-4666-3p	CLIP-seq
MIRT2038769	hsa-miR-4710	CLIP-seq
MIRT2038770	hsa-miR-4729	CLIP-seq
MIRT1136249	hsa-miR-4747-3p	CLIP-seq
MIRT2038771	hsa-miR-4751	CLIP-seq
MIRT2038772	hsa-miR-4792	CLIP-seq
MIRT2038773	hsa-miR-4797-5p	CLIP-seq
MIRT2038774	hsa-miR-579	CLIP-seq
MIRT2038775	hsa-miR-607	CLIP-seq
MIRT1136264	hsa-miR-620	CLIP-seq
MIRT2038776	hsa-miR-642b	CLIP-seq
MIRT1136266	hsa-miR-665	CLIP-seq
MIRT1136267	hsa-miR-708	CLIP-seq
MIRT2038777	hsa-miR-759	CLIP-seq
MIRT1136268	hsa-miR-873	CLIP-seq
MIRT2038778	hsa-miR-920	CLIP-seq
MIRT2268728	hsa-miR-101	CLIP-seq
MIRT2038745	hsa-miR-1224-5p	CLIP-seq
MIRT1136206	hsa-miR-1227	CLIP-seq
MIRT2268729	hsa-miR-1229	CLIP-seq
MIRT2268730	hsa-miR-1245b-3p	CLIP-seq
MIRT2268731	hsa-miR-1266	CLIP-seq
MIRT2038746	hsa-miR-1305	CLIP-seq
MIRT2268732	hsa-miR-1324	CLIP-seq
MIRT2038747	hsa-miR-135a	CLIP-seq
MIRT2038748	hsa-miR-135b	CLIP-seq
MIRT2268733	hsa-miR-137	CLIP-seq
MIRT2038749	hsa-miR-138	CLIP-seq
MIRT2268734	hsa-miR-139-5p	CLIP-seq
MIRT2038750	hsa-miR-140-3p	CLIP-seq
MIRT1136209	hsa-miR-141	CLIP-seq
MIRT2268735	hsa-miR-144	CLIP-seq
MIRT2268736	hsa-miR-186	CLIP-seq
MIRT1136214	hsa-miR-200a	CLIP-seq
MIRT2038754	hsa-miR-24	CLIP-seq
MIRT2038755	hsa-miR-300	CLIP-seq
MIRT2268737	hsa-miR-3124-3p	CLIP-seq
MIRT2268738	hsa-miR-3133	CLIP-seq
MIRT1136225	hsa-miR-3136-5p	CLIP-seq
MIRT2268739	hsa-miR-3143	CLIP-seq
MIRT2268740	hsa-miR-3157-3p	CLIP-seq
MIRT2268741	hsa-miR-3202	CLIP-seq
MIRT2268742	hsa-miR-330-3p	CLIP-seq
MIRT1136228	hsa-miR-338-5p	CLIP-seq
MIRT2268743	hsa-miR-345	CLIP-seq
MIRT2268744	hsa-miR-34b	CLIP-seq
MIRT2268745	hsa-miR-3651	CLIP-seq
MIRT2268746	hsa-miR-3664-5p	CLIP-seq
MIRT1136232	hsa-miR-3667-5p	CLIP-seq
MIRT1136234	hsa-miR-3691-3p	CLIP-seq
MIRT2268747	hsa-miR-3691-5p	CLIP-seq
MIRT2268748	hsa-miR-369-3p	CLIP-seq
MIRT2268749	hsa-miR-370	CLIP-seq
MIRT2268750	hsa-miR-380	CLIP-seq
MIRT2038758	hsa-miR-381	CLIP-seq
MIRT2268751	hsa-miR-421	CLIP-seq
MIRT2268752	hsa-miR-4270	CLIP-seq
MIRT2038760	hsa-miR-4272	CLIP-seq
MIRT2038761	hsa-miR-4284	CLIP-seq
MIRT2038762	hsa-miR-4299	CLIP-seq
MIRT2038763	hsa-miR-4300	CLIP-seq
MIRT2268753	hsa-miR-4303	CLIP-seq
MIRT2268754	hsa-miR-4320	CLIP-seq
MIRT1136242	hsa-miR-4439	CLIP-seq
MIRT2268755	hsa-miR-4441	CLIP-seq
MIRT2268756	hsa-miR-4473	CLIP-seq
MIRT1136244	hsa-miR-4495	CLIP-seq
MIRT2268757	hsa-miR-4501	CLIP-seq
MIRT2268758	hsa-miR-4518	CLIP-seq
MIRT2038765	hsa-miR-4528	CLIP-seq
MIRT2268759	hsa-miR-4639-3p	CLIP-seq
MIRT2038768	hsa-miR-4666-3p	CLIP-seq
MIRT2268760	hsa-miR-4666-5p	CLIP-seq
MIRT2268761	hsa-miR-4671-5p	CLIP-seq
MIRT2268762	hsa-miR-4682	CLIP-seq
MIRT2268763	hsa-miR-4699-3p	CLIP-seq
MIRT2268764	hsa-miR-4699-5p	CLIP-seq
MIRT2268765	hsa-miR-4705	CLIP-seq
MIRT2038769	hsa-miR-4710	CLIP-seq
MIRT2268766	hsa-miR-4714-5p	CLIP-seq
MIRT2038771	hsa-miR-4751	CLIP-seq
MIRT1136250	hsa-miR-4755-3p	CLIP-seq
MIRT2268767	hsa-miR-4764-5p	CLIP-seq
MIRT2268768	hsa-miR-4778-5p	CLIP-seq
MIRT2038772	hsa-miR-4792	CLIP-seq
MIRT2038773	hsa-miR-4797-5p	CLIP-seq
MIRT2268769	hsa-miR-496	CLIP-seq
MIRT2268770	hsa-miR-510	CLIP-seq
MIRT2268771	hsa-miR-512-3p	CLIP-seq
MIRT2268772	hsa-miR-513a-3p	CLIP-seq
MIRT2268773	hsa-miR-520f	CLIP-seq
MIRT2268774	hsa-miR-543	CLIP-seq
MIRT2268775	hsa-miR-553	CLIP-seq
MIRT2268776	hsa-miR-570	CLIP-seq
MIRT2268777	hsa-miR-576-5p	CLIP-seq
MIRT2268778	hsa-miR-582-5p	CLIP-seq
MIRT2038775	hsa-miR-607	CLIP-seq
MIRT2268779	hsa-miR-628-5p	CLIP-seq
MIRT2038776	hsa-miR-642b	CLIP-seq
MIRT2268780	hsa-miR-654-3p	CLIP-seq
MIRT2038777	hsa-miR-759	CLIP-seq
MIRT2268781	hsa-miR-767-3p	CLIP-seq
MIRT2268782	hsa-miR-874	CLIP-seq
MIRT2038778	hsa-miR-920	CLIP-seq
MIRT2268783	hsa-miR-938	CLIP-seq
MIRT2038745	hsa-miR-1224-5p	CLIP-seq
MIRT2038749	hsa-miR-138	CLIP-seq
MIRT2390696	hsa-miR-3184	CLIP-seq
MIRT2390697	hsa-miR-423-5p	CLIP-seq
MIRT2038762	hsa-miR-4299	CLIP-seq
MIRT2038763	hsa-miR-4300	CLIP-seq
MIRT2268756	hsa-miR-4473	CLIP-seq
MIRT2038769	hsa-miR-4710	CLIP-seq
MIRT2038771	hsa-miR-4751	CLIP-seq
MIRT2038772	hsa-miR-4792	CLIP-seq
MIRT2268771	hsa-miR-512-3p	CLIP-seq
MIRT2268773	hsa-miR-520f	CLIP-seq
MIRT2038776	hsa-miR-642b	CLIP-seq
MIRT2038778	hsa-miR-920	CLIP-seq
MIRT2268751	hsa-miR-421	CLIP-seq
MIRT2038760	hsa-miR-4272	CLIP-seq
MIRT2431050	hsa-miR-4282	CLIP-seq
MIRT2438541	hsa-miR-452	CLIP-seq
MIRT2438542	hsa-miR-4676-3p	CLIP-seq
MIRT2438543	hsa-miR-4693-5p	CLIP-seq
MIRT1136205	hsa-miR-1200	CLIP-seq
MIRT2038744	hsa-miR-1206	CLIP-seq
MIRT2038745	hsa-miR-1224-5p	CLIP-seq
MIRT1136207	hsa-miR-1270	CLIP-seq
MIRT2568101	hsa-miR-1273f	CLIP-seq
MIRT2568102	hsa-miR-128	CLIP-seq
MIRT2568103	hsa-miR-1285	CLIP-seq
MIRT2038746	hsa-miR-1305	CLIP-seq
MIRT2038747	hsa-miR-135a	CLIP-seq
MIRT2038748	hsa-miR-135b	CLIP-seq
MIRT2038749	hsa-miR-138	CLIP-seq
MIRT2038750	hsa-miR-140-3p	CLIP-seq
MIRT2568104	hsa-miR-143	CLIP-seq
MIRT1136210	hsa-miR-15a	CLIP-seq
MIRT1136211	hsa-miR-15b	CLIP-seq
MIRT1136212	hsa-miR-16	CLIP-seq
MIRT2568105	hsa-miR-181a	CLIP-seq
MIRT2568106	hsa-miR-181b	CLIP-seq
MIRT2568107	hsa-miR-181c	CLIP-seq
MIRT2568108	hsa-miR-181d	CLIP-seq
MIRT2268736	hsa-miR-186	CLIP-seq
MIRT2568109	hsa-miR-1915	CLIP-seq
MIRT1136213	hsa-miR-195	CLIP-seq
MIRT2568110	hsa-miR-204	CLIP-seq
MIRT2568111	hsa-miR-211	CLIP-seq
MIRT2568112	hsa-miR-214	CLIP-seq
MIRT2038753	hsa-miR-217	CLIP-seq
MIRT2038754	hsa-miR-24	CLIP-seq
MIRT1136218	hsa-miR-28-5p	CLIP-seq
MIRT1136219	hsa-miR-2964a-5p	CLIP-seq
MIRT2038755	hsa-miR-300	CLIP-seq
MIRT2568113	hsa-miR-302f	CLIP-seq
MIRT2268737	hsa-miR-3124-3p	CLIP-seq
MIRT1136226	hsa-miR-3139	CLIP-seq
MIRT2568114	hsa-miR-3145-5p	CLIP-seq
MIRT2568115	hsa-miR-3148	CLIP-seq
MIRT2038756	hsa-miR-3182	CLIP-seq
MIRT2568116	hsa-miR-3187-5p	CLIP-seq
MIRT2268742	hsa-miR-330-3p	CLIP-seq
MIRT1136228	hsa-miR-338-5p	CLIP-seq
MIRT2568117	hsa-miR-3619-5p	CLIP-seq
MIRT1136230	hsa-miR-3661	CLIP-seq
MIRT2568118	hsa-miR-3681	CLIP-seq
MIRT2568119	hsa-miR-378g	CLIP-seq
MIRT2038758	hsa-miR-381	CLIP-seq
MIRT1136236	hsa-miR-3914	CLIP-seq
MIRT2038759	hsa-miR-3974	CLIP-seq
MIRT1136237	hsa-miR-3977	CLIP-seq
MIRT2568120	hsa-miR-410	CLIP-seq
MIRT1136238	hsa-miR-424	CLIP-seq
MIRT2568121	hsa-miR-4262	CLIP-seq
MIRT2568122	hsa-miR-4277	CLIP-seq
MIRT2431050	hsa-miR-4282	CLIP-seq
MIRT2038761	hsa-miR-4284	CLIP-seq
MIRT2568123	hsa-miR-4291	CLIP-seq
MIRT2038762	hsa-miR-4299	CLIP-seq
MIRT2038763	hsa-miR-4300	CLIP-seq
MIRT1136239	hsa-miR-4308	CLIP-seq
MIRT2568124	hsa-miR-4314	CLIP-seq
MIRT2568125	hsa-miR-4317	CLIP-seq
MIRT1136240	hsa-miR-432	CLIP-seq
MIRT2268754	hsa-miR-4320	CLIP-seq
MIRT1136241	hsa-miR-4324	CLIP-seq
MIRT2568126	hsa-miR-4437	CLIP-seq
MIRT2568127	hsa-miR-4446-3p	CLIP-seq
MIRT2568128	hsa-miR-4446-5p	CLIP-seq
MIRT1136243	hsa-miR-4468	CLIP-seq
MIRT2038764	hsa-miR-4477b	CLIP-seq
MIRT2568129	hsa-miR-4486	CLIP-seq
MIRT1136246	hsa-miR-4531	CLIP-seq
MIRT1136247	hsa-miR-4633-3p	CLIP-seq
MIRT2038766	hsa-miR-4659a-3p	CLIP-seq
MIRT2038767	hsa-miR-4659b-3p	CLIP-seq
MIRT2038768	hsa-miR-4666-3p	CLIP-seq
MIRT2568130	hsa-miR-4668-3p	CLIP-seq
MIRT2568131	hsa-miR-4674	CLIP-seq
MIRT2568132	hsa-miR-4685-5p	CLIP-seq
MIRT2568133	hsa-miR-4690-5p	CLIP-seq
MIRT2268764	hsa-miR-4699-5p	CLIP-seq
MIRT2568134	hsa-miR-4708-5p	CLIP-seq
MIRT2038769	hsa-miR-4710	CLIP-seq
MIRT2568135	hsa-miR-4726-3p	CLIP-seq
MIRT2568136	hsa-miR-4728-3p	CLIP-seq
MIRT1136249	hsa-miR-4747-3p	CLIP-seq
MIRT2038771	hsa-miR-4751	CLIP-seq
MIRT2568137	hsa-miR-4755-5p	CLIP-seq
MIRT2568138	hsa-miR-4770	CLIP-seq
MIRT1136251	hsa-miR-4773	CLIP-seq
MIRT2038772	hsa-miR-4792	CLIP-seq
MIRT2038773	hsa-miR-4797-5p	CLIP-seq
MIRT1136252	hsa-miR-497	CLIP-seq
MIRT2568139	hsa-miR-511	CLIP-seq
MIRT2268772	hsa-miR-513a-3p	CLIP-seq
MIRT1136255	hsa-miR-544b	CLIP-seq
MIRT2568140	hsa-miR-587	CLIP-seq
MIRT2038775	hsa-miR-607	CLIP-seq
MIRT2568141	hsa-miR-612	CLIP-seq
MIRT2568142	hsa-miR-616	CLIP-seq
MIRT1136264	hsa-miR-620	CLIP-seq
MIRT2568143	hsa-miR-623	CLIP-seq
MIRT1136265	hsa-miR-631	CLIP-seq
MIRT2038776	hsa-miR-642b	CLIP-seq
MIRT1136266	hsa-miR-665	CLIP-seq
MIRT1136267	hsa-miR-708	CLIP-seq
MIRT2038777	hsa-miR-759	CLIP-seq
MIRT2568144	hsa-miR-760	CLIP-seq
MIRT2568145	hsa-miR-761	CLIP-seq
MIRT1136268	hsa-miR-873	CLIP-seq
MIRT2568146	hsa-miR-875-3p	CLIP-seq
MIRT2038778	hsa-miR-920	CLIP-seq
MIRT2568147	hsa-miR-922	CLIP-seq
MIRT2568148	hsa-miR-944	CLIP-seq
MIRT1136205	hsa-miR-1200	CLIP-seq
MIRT2038745	hsa-miR-1224-5p	CLIP-seq
MIRT2684717	hsa-miR-1264	CLIP-seq
MIRT1136207	hsa-miR-1270	CLIP-seq
MIRT2568101	hsa-miR-1273f	CLIP-seq
MIRT2568103	hsa-miR-1285	CLIP-seq
MIRT2038746	hsa-miR-1305	CLIP-seq
MIRT2038747	hsa-miR-135a	CLIP-seq
MIRT2038748	hsa-miR-135b	CLIP-seq
MIRT2038749	hsa-miR-138	CLIP-seq
MIRT2568104	hsa-miR-143	CLIP-seq
MIRT1136210	hsa-miR-15a	CLIP-seq
MIRT1136211	hsa-miR-15b	CLIP-seq
MIRT1136212	hsa-miR-16	CLIP-seq
MIRT2568105	hsa-miR-181a	CLIP-seq
MIRT2568106	hsa-miR-181b	CLIP-seq
MIRT2568107	hsa-miR-181c	CLIP-seq
MIRT2568108	hsa-miR-181d	CLIP-seq
MIRT2268736	hsa-miR-186	CLIP-seq
MIRT2568109	hsa-miR-1915	CLIP-seq
MIRT1136213	hsa-miR-195	CLIP-seq
MIRT2568110	hsa-miR-204	CLIP-seq
MIRT2038752	hsa-miR-2054	CLIP-seq
MIRT2568111	hsa-miR-211	CLIP-seq
MIRT2568112	hsa-miR-214	CLIP-seq
MIRT2038753	hsa-miR-217	CLIP-seq
MIRT2038754	hsa-miR-24	CLIP-seq
MIRT1136218	hsa-miR-28-5p	CLIP-seq
MIRT1136219	hsa-miR-2964a-5p	CLIP-seq
MIRT2684718	hsa-miR-3138	CLIP-seq
MIRT1136226	hsa-miR-3139	CLIP-seq
MIRT2568114	hsa-miR-3145-5p	CLIP-seq
MIRT2038756	hsa-miR-3182	CLIP-seq
MIRT2568116	hsa-miR-3187-5p	CLIP-seq
MIRT2268742	hsa-miR-330-3p	CLIP-seq
MIRT1136228	hsa-miR-338-5p	CLIP-seq
MIRT2568117	hsa-miR-3619-5p	CLIP-seq
MIRT1136230	hsa-miR-3661	CLIP-seq
MIRT1136234	hsa-miR-3691-3p	CLIP-seq
MIRT2568119	hsa-miR-378g	CLIP-seq
MIRT1136236	hsa-miR-3914	CLIP-seq
MIRT2038759	hsa-miR-3974	CLIP-seq
MIRT1136237	hsa-miR-3977	CLIP-seq
MIRT1136238	hsa-miR-424	CLIP-seq
MIRT2568121	hsa-miR-4262	CLIP-seq
MIRT2568122	hsa-miR-4277	CLIP-seq
MIRT2038761	hsa-miR-4284	CLIP-seq
MIRT2568123	hsa-miR-4291	CLIP-seq
MIRT2038762	hsa-miR-4299	CLIP-seq
MIRT2038763	hsa-miR-4300	CLIP-seq
MIRT1136239	hsa-miR-4308	CLIP-seq
MIRT2568124	hsa-miR-4314	CLIP-seq
MIRT2568125	hsa-miR-4317	CLIP-seq
MIRT1136240	hsa-miR-432	CLIP-seq
MIRT1136241	hsa-miR-4324	CLIP-seq
MIRT2568126	hsa-miR-4437	CLIP-seq
MIRT2568127	hsa-miR-4446-3p	CLIP-seq
MIRT2568128	hsa-miR-4446-5p	CLIP-seq
MIRT1136243	hsa-miR-4468	CLIP-seq
MIRT2038764	hsa-miR-4477b	CLIP-seq
MIRT2568129	hsa-miR-4486	CLIP-seq
MIRT1136246	hsa-miR-4531	CLIP-seq
MIRT1136247	hsa-miR-4633-3p	CLIP-seq
MIRT2038766	hsa-miR-4659a-3p	CLIP-seq
MIRT2038767	hsa-miR-4659b-3p	CLIP-seq
MIRT2568131	hsa-miR-4674	CLIP-seq
MIRT2568132	hsa-miR-4685-5p	CLIP-seq
MIRT2568133	hsa-miR-4690-5p	CLIP-seq
MIRT2568134	hsa-miR-4708-5p	CLIP-seq
MIRT2038769	hsa-miR-4710	CLIP-seq
MIRT2568135	hsa-miR-4726-3p	CLIP-seq
MIRT2568136	hsa-miR-4728-3p	CLIP-seq
MIRT1136249	hsa-miR-4747-3p	CLIP-seq
MIRT2038771	hsa-miR-4751	CLIP-seq
MIRT2568137	hsa-miR-4755-5p	CLIP-seq
MIRT2568138	hsa-miR-4770	CLIP-seq
MIRT1136251	hsa-miR-4773	CLIP-seq
MIRT2038772	hsa-miR-4792	CLIP-seq
MIRT2038773	hsa-miR-4797-5p	CLIP-seq
MIRT2684719	hsa-miR-4800-5p	CLIP-seq
MIRT1136252	hsa-miR-497	CLIP-seq
MIRT2684720	hsa-miR-508-3p	CLIP-seq
MIRT2568139	hsa-miR-511	CLIP-seq
MIRT2268772	hsa-miR-513a-3p	CLIP-seq
MIRT1136255	hsa-miR-544b	CLIP-seq
MIRT2684721	hsa-miR-590-3p	CLIP-seq
MIRT2038775	hsa-miR-607	CLIP-seq
MIRT2568141	hsa-miR-612	CLIP-seq
MIRT2568142	hsa-miR-616	CLIP-seq
MIRT1136264	hsa-miR-620	CLIP-seq
MIRT2568143	hsa-miR-623	CLIP-seq
MIRT1136265	hsa-miR-631	CLIP-seq
MIRT2038776	hsa-miR-642b	CLIP-seq
MIRT1136266	hsa-miR-665	CLIP-seq
MIRT1136267	hsa-miR-708	CLIP-seq
MIRT2684722	hsa-miR-711	CLIP-seq
MIRT2038777	hsa-miR-759	CLIP-seq
MIRT2568144	hsa-miR-760	CLIP-seq
MIRT2568145	hsa-miR-761	CLIP-seq
MIRT1136268	hsa-miR-873	CLIP-seq
MIRT2038778	hsa-miR-920	CLIP-seq
MIRT2568147	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	ISS
GO:0000139	Component	Golgi membrane	TAS
GO:0004222	Function	Metalloendopeptidase activity	EXP	11163209
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	11163209
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	TAS	9659902
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19361614
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006607	Process	NLS-bearing protein import into nucleus	IDA	14645851
GO:0006607	Process	NLS-bearing protein import into nucleus	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	TAS	9659902
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9659902
GO:0016787	Function	Hydrolase activity	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	TAS
GO:0031293	Process	Membrane protein intracellular domain proteolysis	IBA
GO:0031293	Process	Membrane protein intracellular domain proteolysis	IGI	11163209
GO:0034976	Process	Response to endoplasmic reticulum stress	IGI	11163209
GO:0034976	Process	Response to endoplasmic reticulum stress	ISS
GO:0036500	Process	ATF6-mediated unfolded protein response	TAS	22934019
GO:0045540	Process	Regulation of cholesterol biosynthetic process	TAS
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IDA	12177166
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IDA	11163209
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IMP	12177166
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	11163209
GO:0046872	Function	Metal ion binding	IEA
GO:0051604	Process	Protein maturation	EXP	11163209
GO:0051604	Process	Protein maturation	IDA	11163209
GO:0070977	Process	Bone maturation	IMP	27380894
GO:0140537	Function	Transcription regulator activator activity	IGI	11163209
GO:1905897	Process	Regulation of response to endoplasmic reticulum stress	IBA

Other IDs

• MIM: 300294
• HGNC: 15455
• e!Ensembl: ENSG00000012174

Protein

• UniProt ID: O43462
• Protein name: Membrane-bound transcription factor site-2 protease (EC 3.4.24.85) (Endopeptidase S2P) (Sterol regulatory element-binding proteins intramembrane protease) (SREBPs intramembrane protease)
• Protein function: Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:10805775, PubMed:11163209). Catalyzes the second step in the proteolytic activation of the sterol regulatory el
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02163	Peptidase_M50	159 → 501	Peptidase family M50	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas. {ECO:0000269|PubMed:9659902}.
• Sequence:

  MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRA
  FYSWGRRKARMLYQWFNFGMVFGVIAMFSSFFLLGKTLMQTLAQMMADSPSSYSSSSSSS
  SSSSSSSSSSSSSSSSLHNEQVLQVVVPGINLPVNQLTYFFTAVLISGVVHEIGHGIAAI
  REQVRFNGFGIFLFIIYPGAFVDLFTTHLQLISPVQQLRIFCAGIWHNFVLALLGILALV
  LLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVTHLQDCPVTNVQDWNECLDTI
  AYEPQIGYCISASTLQQLSFPVRAYKRLDGSTECCNNHSLTDVCFSYRNNFNKRLHTCLP
  ARKAVEATQVCRTNKDCKKSSSSSFCIIPSLETHTRLIKVKHPPQIDMLYVGHPLHLHYT
  VSITSFIPRFNFLSIDLPVVVETFVKYLISLSGALAIVNAVPCFALDGQWILNSFLDATL
  TSVIGDNDVKDLIGFFILLGGSVLLAANVTLGLWMVTAR

• Sequence length: 519

Pathways

KEGG:

Protein processing in endoplasmic reticulum

Reactome:

Regulation of cholesterol biosynthesis by SREBP (SREBF)
ATF6 (ATF6-alpha) activates chaperones
CREB3 factors activate genes

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
IFAP syndrome 1, with or without BRESHECK syndrome	Pathogenic	rs587777305, rs122468176, rs122468177, rs122468178, rs122468179, rs122468180	RCV000114758 RCV000012155 RCV000012156 RCV000012157 RCV000012158 RCV000012159	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Keratosis follicularis spinulosa decalvans, X-linked	Pathogenic	rs587776867	RCV000022848	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Olmsted syndrome, X-linked	Pathogenic	rs587777306	RCV000114759	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta, type 19	Pathogenic	rs1555986267, rs1555986287	RCV000675188 RCV000675189	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of neuronal migration	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR-EYE ANOMALIES, CLEFT PALATE-CRYPTORCHIDISM, AND KIDNEY DYSPLASIA-HYPOPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRESEK SYNDROME	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PALMOPLANTAR AND PERIORAL KERATODERMA OF OLMSTED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, early-onset, and/or spastic paraplegia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS	—	ClinVar, Orphanet ClinVar, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MBTPS2-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOGENESIS IMPERFECTA TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 3	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 4	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE III	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE XIX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XIX	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Absent eyebrow	Absent eyebrow	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	28654459		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	20672378, 27663151		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia totalis	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	34655156	Associate	★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	8378327	Associate	★☆☆☆☆ Found in Text Mining only
Atrichia	Atrichia	BEFREE	22105905, 22781927, 24313295		★☆☆☆☆ Found in Text Mining only
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia	Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia	BEFREE	22105905, 24090718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia	Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia	ORPHANET_DG	22105905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
BRESEK syndrome	BRESEK Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	15848992	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical hemiatrophy	Cerebral cortical hemiatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cheilitis	Cheilitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coffin-Lowry syndrome	Coffin-Lowry Syndrome	BEFREE	9195994		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	34655156	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	1550124		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	24313295		★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	1552542		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	34655156	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	36714562	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Episcleritis	Episcleritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Folliculitis	Folliculitis	BEFREE	18284270		★☆☆☆☆ Found in Text Mining only
Folliculitis	Folliculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	8378327	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	36714562	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	34655156	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28654459		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperhidrosis Palmaris Et Plantaris	Hyperhidrosis Palmaris Et Plantaris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	34655156	Associate	★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	24313295		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	15848992	Stimulate	★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	28329493, 31215178, 34655156, 37305034	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis follicularis atrichia photophobia syndrome	Ichthyosis Follicularis Atrichia Photophobia Syndrome	GENOMICS_ENGLAND_DG	19361614, 22931912, 24313295, 9021007		★☆☆☆☆ Found in Text Mining only
Ichthyosis follicularis atrichia photophobia syndrome	Ichthyosis Follicularis Atrichia Photophobia Syndrome	UNIPROT_DG	19361614		★☆☆☆☆ Found in Text Mining only
Ichthyosis follicularis atrichia photophobia syndrome	Ichthyosis Follicularis Atrichia Photophobia Syndrome	BEFREE	21315478, 23316014, 24313295, 25683132		★☆☆☆☆ Found in Text Mining only
Ichthyosis follicularis atrichia photophobia syndrome	Ichthyosis Follicularis Atrichia Photophobia Syndrome	ORPHANET_DG	21600032		★☆☆☆☆ Found in Text Mining only
Ichthyosis follicularis atrichia photophobia syndrome	Ichthyosis Follicularis Atrichia Photophobia Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis follicularis atrichia photophobia syndrome	Ichthyosis Follicularis Atrichia Photophobia Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis follicularis-alopecia-photophobia syndrome	Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22105905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	34655156	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	18280351		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis follicularis spinulosa decalvans	Keratosis Follicularis Spinulosa Decalvans	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Keratosis Follicularis Spinulosa Decalvans, X-Linked	UNIPROT_DG	20672378		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Keratosis Follicularis Spinulosa Decalvans, X-Linked	BEFREE	22816986, 23316014, 24313295, 27663151		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Keratosis Follicularis Spinulosa Decalvans, X-Linked	GENOMICS_ENGLAND_DG	23316014		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Keratosis Follicularis Spinulosa Decalvans, X-Linked	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Keratosis Follicularis Spinulosa Decalvans, X-Linked	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratosis pilaris	Keratosis pilaris	BEFREE	18280351, 18284270, 22816986		★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis pilaris decalvans	Keratosis follicularis spinulosa decalvans	ORPHANET_DG	20672378		★☆☆☆☆ Found in Text Mining only
Keratosis pilaris decalvans	Keratosis follicularis spinulosa decalvans	BEFREE	22816986, 23316014, 24313295, 27663151		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	34655156	Associate	★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	21355074, 22540830		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	14563831		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21355074		★☆☆☆☆ Found in Text Mining only
Meibomian gland dysfunction	Meibomian Gland Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mutilating palmoplantar keratoderma with periorificial keratotic plaques	Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Orphanet			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28011404		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligodactyly	Oligodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Olmsted syndrome	Olmsted Syndrome	ORPHANET_DG	22931912		★☆☆☆☆ Found in Text Mining only
Olmsted syndrome	Olmsted Syndrome	BEFREE	23316014, 24313295, 24452206, 28717930		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	27380894		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	27380894, 37305034	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOGENESIS IMPERFECTA, TYPE XIX	Osteogenesis Imperfecta	UNIPROT_DG	27380894		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XIX	Osteogenesis Imperfecta	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED	Palmoplantar Keratoderma, With Periorificial Keratotic Plaques, X-Linked	UNIPROT_DG	22931912		★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED	Palmoplantar Keratoderma, With Periorificial Keratotic Plaques, X-Linked	GENOMICS_ENGLAND_DG	22931912, 24313295		★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED	Palmoplantar Keratoderma, With Periorificial Keratotic Plaques, X-Linked	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED	Palmoplantar Keratoderma, With Periorificial Keratotic Plaques, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parakeratosis	Parakeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phrynoderma	Phrynoderma	BEFREE	1552542, 18984066, 8745901		★☆☆☆☆ Found in Text Mining only
Phrynoderma	Phrynoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	9021007		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22540830	Associate	★☆☆☆☆ Found in Text Mining only
Pseudopelade	Pseudopelade	BEFREE	18280351, 18984066, 22816986		★☆☆☆☆ Found in Text Mining only
Pseudopelade	Pseudopelade	GENOMICS_ENGLAND_DG	23316014		★☆☆☆☆ Found in Text Mining only
Recurrent erosion of cornea	Erosion Of Cornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	24313295, 9021007		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis pigmentosa inversa	Retinitis pigmentosa inversa	BEFREE	28061825		★☆☆☆☆ Found in Text Mining only
Retinoschisis, Juvenile, X-Linked	Retinoschisis, X-Linked	BEFREE	9195994		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	15687482	Associate	★☆☆☆☆ Found in Text Mining only
Scarring alopecia	Alopecia	BEFREE	18280351, 18984066, 22816986		★☆☆☆☆ Found in Text Mining only
Scarring alopecia	Alopecia	GENOMICS_ENGLAND_DG	23316014		★☆☆☆☆ Found in Text Mining only
Scleritis	Scleritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31215178	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subcortical cerebral atrophy	Subcortical cerebral atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subungual hyperkeratosis	Subungual hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	34655156	Associate	★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only