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
• Disease Acronyms (UniProt): KFSDX, OI19, OLMSX
• 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	TAS
GO:0004222	Function	Metalloendopeptidase activity	EXP	11163209
GO:0004222	Function	Metalloendopeptidase activity	IBA	21873635
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	19361614
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	TAS
GO:0031293	Process	Membrane protein intracellular domain proteolysis	IBA	21873635
GO:0031293	Process	Membrane protein intracellular domain proteolysis	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:0046872	Function	Metal ion binding	IEA
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IBA	21873635
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IGI	11163209
GO:0070977	Process	Bone maturation	IMP	27380894
GO:1905897	Process	Regulation of response to endoplasmic reticulum stress	IBA	21873635
GO:1990440	Process	Positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	IBA	21873635
GO:1990440	Process	Positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	IGI	11163209

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

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Corneal dystrophy	Corneal dystrophy	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Developmental regression	Developmental regression	rs1224421127
Ectodermal dysplasia	Ectodermal Dysplasia	rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2147483647, rs137853330, rs28933100, rs121913665, rs387907197, rs386134238, rs386134240, rs782540538, rs398122913, rs398122377, rs179363867, rs1565766888, rs747806672, rs879255553, rs886039564, rs886041005, rs766500689, rs886041411, rs782178147, rs1057519508, rs1057524917, rs139455627, rs1060499610, rs1553445945, rs1553448320, rs557166582, rs1569151872, rs1555916009, rs1566591076, rs1566591086, rs1566591082, rs1558814135, rs773885029, rs1590674994, rs1575653629, rs1575647025, rs781890406, rs749688157
Ectrodactyly	Ectrodactyly	rs1850314485
Hearing loss	Sensorineural Hearing Loss (disorder)	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
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Mental retardation	Severe intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Keratitis	Keratitis	rs587776571
Keratosis pilaris	Keratosis pilaris	rs483353013
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050
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
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Olmsted syndrome	Olmsted syndrome	rs199473704, rs199473705, rs587777306, rs786205868, rs1057517884	22931912
Osteogenesis imperfecta	OSTEOGENESIS IMPERFECTA, TYPE XIX	rs72659351, rs72659354, rs72659348, rs72659355, rs137853952, rs118203996, rs137853890, rs72659360, rs72659362, rs72659359, rs72659361, rs72659357, rs121918002, rs121918007, rs121918009, rs121918011, rs121918019, rs137853869, rs121434559, rs72659319, rs72659345, rs121912903, rs121912905, rs121912907, rs869254878, rs72658200, rs74315103, rs121912911, rs72658176, rs72656402, rs121912912, rs267606742, rs72659338, rs72645331, rs66721653, rs67368147, rs72653136, rs72653169, rs66523073, rs72656352, rs72645365, rs72667022, rs72645357, rs72656330, rs66527965, rs72645323, rs72656331, rs72667037, rs72654802, rs67682641, rs72653178, rs72653131, rs72656353, rs67828806, rs72656343, rs1906960583, rs72656314, rs67364703, rs72645347, rs72651618, rs66490707, rs72653170, rs72645320, rs137853892, rs1567856056, rs387906960, rs1555616552, rs137853865, rs137853866, rs193302872, rs193302871, rs193302873, rs137853893, rs193922137, rs72648320, rs193922138, rs193922139, rs193922140, rs193922141, rs193922143, rs193922144, rs193922145, rs193922147, rs193922148, rs193922149, rs193922151, rs193922152, rs193922154, rs72653173, rs193922155, rs193922157, rs72667023, rs193922158, rs72645328, rs193922162, rs72658154, rs193922166, rs193922167, rs193922173, rs72656387, rs193922175, rs587776916, rs398122891, rs318240762, rs372896892, rs398122834, rs749709000, rs397509383, rs397514674, rs398122518, rs398122519, rs398122520, rs387907325, rs387907333, rs387907334, rs387907354, rs387907355, rs387907356, rs387907357, rs727505392, rs786201032, rs786205217, rs786205218, rs786205219, rs786205220, rs797044559, rs794726873, rs72645353, rs869320752, rs137853943, rs797045033, rs863225043, rs869025223, rs869312908, rs878853274, rs72659347, rs72656370, rs886039693, rs67507747, rs762428889, rs72645318, rs886039880, rs369651701, rs886041866, rs886042260, rs886042286, rs886042603, rs886042897, rs72654794, rs72651642, rs140468248, rs137853944, rs1057517662, rs1057517663, rs74315111, rs72648337, rs1057518930, rs1057521085, rs1064794058, rs72658185, rs1555572249, rs67771061, rs1114167416, rs1114167417, rs72656386, rs1114167418, rs906553840, rs67729041, rs67865220, rs1114167412, rs67707918, rs68132885, rs72658119, rs72658143, rs72658150, rs72659310, rs67609234, rs1114167414, rs1114167415, rs72659325, rs67768540, rs1114167406, rs1114167405, rs1114167403, rs34940368, rs1114167402, rs72656340, rs1114167401, rs1114167400, rs72656338, rs1114167399, rs67815019, rs1114167398, rs67394386, rs1114167382, rs1114167396, rs1114167395, rs1114167381, rs1114167394, rs67445413, rs1114167380, rs1114167379, rs1114167392, rs67693970, rs1114167391, rs1114167378, rs72651661, rs1114167390, rs72651645, rs1114167389, rs1114167388, rs66555264, rs72651614, rs1114167387, rs1114167377, rs1114167375, rs1114167374, rs1114167385, rs72648326, rs72648322, rs72645369, rs1555574154, rs72645366, rs786205507, rs1114167411, rs72645356, rs72645337, rs72645334, rs72645321, rs1114167410, rs72667036, rs8179178, rs1114167408, rs1114167407, rs72667016, rs72667012, rs1114167384, rs1114167409, rs1085307634, rs1131692167, rs765659555, rs1131692326, rs1131692320, rs1135401953, rs137853883, rs1555573313, rs72667014, rs1555573621, rs1555572125, rs1260429820, rs67879854, rs1555574143, rs1328384458, rs72648343, rs1555574516, rs1555574641, rs972668240, rs72656392, rs66612022, rs66619856, rs1554395970, rs1555571755, rs1555571849, rs1555572075, rs1555572239, rs1555572458, rs1555573004, rs67543897, rs72648352, rs1555574113, rs1555574493, rs1555574497, rs1555574638, rs1555574802, rs1555571529, rs1555571647, rs1555571766, rs1555572401, rs1555572456, rs72651635, rs1555573484, rs1298621011, rs1555575086, rs1555572013, rs1555572120, rs1555572121, rs1555573039, rs1555574071, rs66664580, rs72667031, rs1555571874, rs72653151, rs72653147, rs1213427451, rs72651620, rs865999256, rs1555574144, rs1555574151, rs72645341, rs1555574496, rs1555574553, rs1555571916, rs1555178899, rs1555575370, rs1555572315, rs72645361, rs113994016, rs781272386, rs1554397369, rs1555572406, rs72651634, rs139593707, rs1555572316, rs72651640, rs1554396283, rs763159520, rs72658127, rs1553143741, rs1553143142, rs1554200383, rs1187611948, rs1554200371, rs1555572254, rs867628651, rs72653155, rs138570309, rs1410254723, rs1555573897, rs1228746935, rs72645368, rs1555574871, rs1555572640, rs1555573288, rs1555573629, rs1555575015, rs1555575889, rs1555572759, rs1555574158, rs1555574177, rs72667029, rs1555571942, rs1555574319, rs753683126, rs72651658, rs1554395470, rs1555572161, rs371243939, rs1555986267, rs1555986287, rs1555222973, rs779809838, rs1565789682, rs1557569037, rs1013320485, rs762525651, rs72656375, rs1567752926, rs1567752998, rs1567753046, rs1567753329, rs72653140, rs1567756567, rs72651644, rs1567760604, rs1567761950, rs1567763007, rs111594467, rs1567757112, rs1567759402, rs1567760123, rs67163049, rs1567756357, rs1567760736, rs1567761649, rs1567763447, rs1567763451, rs1567764387, rs1567764832, rs1567766329, rs72656326, rs1567753699, rs1567754277, rs72653168, rs72645370, rs1567762257, rs1567766338, rs72658193, rs72648357, rs1562906570, rs72659305, rs1567751388, rs1567753448, rs72651647, rs1567761800, rs1567762262, rs72648346, rs1565244847, rs1567757138, rs72656394, rs1562907287, rs1567754589, rs1598288342, rs1567855132, rs72659356, rs773269078, rs1570479611, rs762780039, rs1330779100, rs1598289920, rs72653133, rs1562906013, rs753338851, rs1570454914, rs1229143002, rs1570472113, rs137853939, rs768626850, rs1584324507, rs141011435, rs1598285120, rs72656324, rs1598288070, rs1598288593, rs1598289365, rs1598291438, rs72648330, rs1598296825, rs72648319, rs72648313, rs72645332, rs1598299070, rs1598300304, rs1473458290, rs1598285125, rs72653171, rs72653150, rs1181095991, rs1598295482, rs1598301459, rs72651667, rs1598298449, rs1597352358, rs1597355244, rs1597357740, rs1597357758, rs1597902342, rs1374482728, rs1597905563, rs1570452407, rs1570453963, rs1581634382, rs1597906442, rs1597908085, rs1597907877, rs1584316181, rs1584318953, rs72656389, rs1584319418, rs1584322737, rs1584330959, rs2586486, rs1598286543, rs72654797, rs1598288634, rs1598288656, rs1598290382, rs1598293920, rs1598295794, rs150572711, rs1598299275, rs1598300054, rs111953130, rs868166455, rs745891632, rs1021282486, rs780491808, rs1584320553, rs1598298699, rs72648321, rs1598288648, rs1598288967, rs72645352, rs1598298292, rs72645315, rs762979302, rs1598286050, rs1598301619, rs1584330396, rs72653156, rs1598295066, rs137853948, rs1598288002, rs1598289247, rs1652311421, rs1701306294, rs1906421838, rs72656351, rs72656348, rs1906537608, rs72656337, rs72656320, rs1906843530, rs1906847588, rs1906874191, rs1906878217, rs72651641, rs1907212702, rs1907330109, rs1907377731, rs1907418203, rs1907457376, rs72648333, rs1907617224, rs72667030, rs1907889665, rs1907921633, rs1908087291, rs1652352034, rs72648370, rs1555575835, rs1908083033, rs1907669327, rs112274185, rs72656327, rs1906695650, rs72645338, rs1907787005, rs1054264002, rs1791878922, rs1791894410, rs1791907178, rs369314029, rs1908050941, rs72653141, rs1907103040, rs1907351704, rs1907477506, rs1907512918, rs112042777, rs1907566530, rs1907770102, rs1791951769, rs1792108270, rs1387151592, rs72656385	27380894
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987	9021007
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease term	Disease name	Evidence	References	Source
Renal dysplasia	Renal Cell Dysplasia, Renal dysplasia			ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney			ClinVar
Specific learning disorder	Specific learning disability			ClinVar
Olmsted Syndrome	Olmsted syndrome, X-linked			GenCC
Osteogenesis Imperfecta	osteogenesis imperfecta, osteogenesis imperfecta, type 19			GenCC
Keratosis Follicularis Spinulosa Decalvans	keratosis follicularis spinulosa decalvans			GenCC
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	mutilating palmoplantar keratoderma with periorificial keratotic plaques			GenCC
BRESEK Syndrome	BRESEK syndrome			GenCC
Keratosis Follicularis Spinulosa Decalvans, X-Linked	keratosis follicularis spinulosa decalvans, X-linked			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Acrocephalosyndactylia	Associate	37305034
Adenocarcinoma of Lung	Associate	32873769, 38167084
Alopecia	Stimulate	15848992
Alopecia	Associate	31215178
Anemia	Associate	34655156
Astrocytoma	Associate	8378327
Brain Anomalies Retardation Ectodermal Dysplasia Skeletal Malformations Hirschsprung Disease Ear Eye Anomalies Cleft Palate Cryptorchidism And Kidney Dysplasia Hypoplasia	Associate	34655156
Cataract	Associate	15848992
Cataract and congenital ichthyosis	Associate	37042943
Congenital Abnormalities	Associate	34655156
Diarrhea	Associate	34655156
Dwarfism Pituitary	Associate	36714562
Femoral Fractures Distal	Associate	37305034
Genetic Diseases X Linked	Associate	37305034
Glioblastoma	Associate	8378327
Growth Disorders	Associate	36714562
Hecht Scott syndrome	Associate	37042943
Hematologic Diseases	Associate	34655156
Hypospadias	Associate	34655156
Ichthyosis	Stimulate	15848992
Ichthyosis	Associate	28329493, 31215178, 34655156, 37305034
Ichthyosis follicularis atrichia photophobia syndrome	Associate	28329493, 31215178, 32497488, 34655156, 37042943, 37305034
Intellectual Disability	Associate	34655156
Keratosis Follicularis Spinulosa Decalvans X Linked	Associate	37305034
Kidney Diseases	Associate	34655156
Neoplasms	Associate	8378327
Non alcoholic Fatty Liver Disease	Stimulate	32920226
Osteogenesis Imperfecta	Associate	27380894, 37305034
Photophobia	Stimulate	15848992
Photophobia	Associate	28329493, 31215178
Primary Myelofibrosis	Associate	34655156
Prostatic Neoplasms	Associate	22540830
Prostatic Neoplasms Castration Resistant	Associate	25880275
Pulmonary Valve Stenosis	Associate	34655156
Renal Insufficiency	Associate	34655156
Salter Harris Fractures	Associate	36714562
Sarcopenia	Associate	15687482
Seizures	Associate	31215178
Thrombocytopenia	Associate	34655156
Tissue Adhesions	Associate	15848992