SEMA3E (semaphorin 3E)

Gene

• Entrez ID: 9723
• Gene name: Semaphorin 3E
• Gene symbol: SEMA3E
• Synonyms (NCBI Gene): M-SEMAH, M-SemaK, SEMAH, coll-5
• Chromosome: 7
• Chromosome location: 7q21.11
• Summary: Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and st

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918341	G>A	Pathogenic	Missense variant, coding sequence variant
rs765040215	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT040087	hsa-miR-615-3p	CLASH	23622248
MIRT620445	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT620444	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT620443	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT648129	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT648128	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT620442	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT620441	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT648127	hsa-miR-222-5p	HITS-CLIP	19536157
MIRT620439	hsa-miR-642a-5p	HITS-CLIP	19536157
MIRT648126	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT641228	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT641227	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT641226	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT620436	hsa-miR-6878-3p	HITS-CLIP	19536157
MIRT670723	hsa-miR-4418	HITS-CLIP	19536157
MIRT670722	hsa-miR-509-3-5p	HITS-CLIP	19536157
MIRT670721	hsa-miR-509-5p	HITS-CLIP	19536157
MIRT648125	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT670720	hsa-miR-5693	HITS-CLIP	19536157
MIRT648124	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT648123	hsa-miR-4532	HITS-CLIP	19536157
MIRT620438	hsa-miR-6741-3p	HITS-CLIP	19536157
MIRT648122	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT648121	hsa-miR-1307-3p	HITS-CLIP	19536157
MIRT648120	hsa-miR-4638-5p	HITS-CLIP	19536157
MIRT648119	hsa-miR-2276-3p	HITS-CLIP	19536157
MIRT670719	hsa-miR-17-3p	HITS-CLIP	19536157
MIRT670718	hsa-miR-6499-3p	HITS-CLIP	19536157
MIRT670716	hsa-miR-6722-5p	HITS-CLIP	19536157
MIRT648118	hsa-miR-4284	HITS-CLIP	19536157
MIRT670723	hsa-miR-4418	HITS-CLIP	23824327
MIRT670722	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT670721	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT648125	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT670720	hsa-miR-5693	HITS-CLIP	23824327
MIRT648124	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT648123	hsa-miR-4532	HITS-CLIP	23824327
MIRT620438	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT648122	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648121	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT648120	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT648119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT670719	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT670718	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT670717	hsa-miR-1288-3p	HITS-CLIP	23824327
MIRT670716	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT648118	hsa-miR-4284	HITS-CLIP	23824327
MIRT620447	hsa-miR-1470	HITS-CLIP	23824327
MIRT620446	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT620445	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT620444	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT620443	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT620438	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT620442	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT620441	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620440	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT620439	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT620436	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT664175	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT648125	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT648124	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT648123	hsa-miR-4532	HITS-CLIP	23824327
MIRT648122	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648121	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT648120	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT648119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT648118	hsa-miR-4284	HITS-CLIP	23824327
MIRT620447	hsa-miR-1470	HITS-CLIP	23824327
MIRT620446	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT620445	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT620444	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT620443	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT620438	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT648129	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT648128	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT620442	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT620441	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620440	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT648127	hsa-miR-222-5p	HITS-CLIP	23824327
MIRT620439	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT648126	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT620436	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT648125	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT648124	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT648123	hsa-miR-4532	HITS-CLIP	23824327
MIRT648122	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648121	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT648120	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT648119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT648118	hsa-miR-4284	HITS-CLIP	23824327
MIRT620447	hsa-miR-1470	HITS-CLIP	23824327
MIRT620446	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT620445	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT620444	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT620443	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT641237	hsa-miR-4469	HITS-CLIP	23824327
MIRT641236	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT641235	hsa-miR-4287	HITS-CLIP	23824327
MIRT641234	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT641233	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT641232	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT641231	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT620442	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT620441	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620439	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT641230	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT641229	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT641228	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT641227	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT641226	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT620438	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT620436	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT620447	hsa-miR-1470	HITS-CLIP	23824327
MIRT620446	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT620445	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT620444	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT620443	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT620442	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT620441	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620440	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT620439	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT620438	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT620436	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT670717	hsa-miR-1288-3p	HITS-CLIP	27418678
MIRT620445	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT620444	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT620443	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT648129	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT648128	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT620442	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT620441	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT648127	hsa-miR-222-5p	HITS-CLIP	19536157
MIRT620439	hsa-miR-642a-5p	HITS-CLIP	19536157
MIRT648126	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT641228	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT641227	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT641226	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT620436	hsa-miR-6878-3p	HITS-CLIP	19536157
MIRT670723	hsa-miR-4418	HITS-CLIP	19536157
MIRT670722	hsa-miR-509-3-5p	HITS-CLIP	19536157
MIRT670721	hsa-miR-509-5p	HITS-CLIP	19536157
MIRT648125	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT670720	hsa-miR-5693	HITS-CLIP	19536157
MIRT648124	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT648123	hsa-miR-4532	HITS-CLIP	19536157
MIRT620438	hsa-miR-6741-3p	HITS-CLIP	19536157
MIRT648122	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT648121	hsa-miR-1307-3p	HITS-CLIP	19536157
MIRT648120	hsa-miR-4638-5p	HITS-CLIP	19536157
MIRT648119	hsa-miR-2276-3p	HITS-CLIP	19536157
MIRT670719	hsa-miR-17-3p	HITS-CLIP	19536157
MIRT670718	hsa-miR-6499-3p	HITS-CLIP	19536157
MIRT670716	hsa-miR-6722-5p	HITS-CLIP	19536157
MIRT648118	hsa-miR-4284	HITS-CLIP	19536157
MIRT670723	hsa-miR-4418	HITS-CLIP	23824327
MIRT670722	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT670721	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT648125	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT670720	hsa-miR-5693	HITS-CLIP	23824327
MIRT648124	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT648123	hsa-miR-4532	HITS-CLIP	23824327
MIRT620438	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT648122	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648121	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT648120	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT648119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT670719	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT670718	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT670717	hsa-miR-1288-3p	HITS-CLIP	23824327
MIRT670716	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT648118	hsa-miR-4284	HITS-CLIP	23824327
MIRT620447	hsa-miR-1470	HITS-CLIP	23824327
MIRT620446	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT620445	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT620444	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT620443	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT620438	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT620442	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT620441	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620440	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT620439	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT620436	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT664175	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT648125	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT648124	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT648123	hsa-miR-4532	HITS-CLIP	23824327
MIRT648122	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648121	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT648120	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT648119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT648118	hsa-miR-4284	HITS-CLIP	23824327
MIRT620447	hsa-miR-1470	HITS-CLIP	23824327
MIRT620446	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT620445	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT620444	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT620443	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT620438	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT648129	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT648128	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT620442	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT620441	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620440	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT648127	hsa-miR-222-5p	HITS-CLIP	23824327
MIRT620439	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT648126	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT620436	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT648125	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT648124	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT648123	hsa-miR-4532	HITS-CLIP	23824327
MIRT648122	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648121	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT648120	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT648119	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT648118	hsa-miR-4284	HITS-CLIP	23824327
MIRT620447	hsa-miR-1470	HITS-CLIP	23824327
MIRT620446	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT620445	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT620444	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT620443	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT641237	hsa-miR-4469	HITS-CLIP	23824327
MIRT641236	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT641235	hsa-miR-4287	HITS-CLIP	23824327
MIRT641234	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT641233	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT641232	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT641231	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT620442	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT620441	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620439	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT641230	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT641229	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT641228	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT641227	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT641226	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT620438	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT620436	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT620447	hsa-miR-1470	HITS-CLIP	23824327
MIRT620446	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT620445	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT620444	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT620443	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT620442	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT620441	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620440	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT620439	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT620438	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT620436	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT1334886	hsa-miR-1193	CLIP-seq
MIRT1334887	hsa-miR-1253	CLIP-seq
MIRT1334888	hsa-miR-1264	CLIP-seq
MIRT1334889	hsa-miR-1278	CLIP-seq
MIRT1334890	hsa-miR-1288	CLIP-seq
MIRT1334891	hsa-miR-1307	CLIP-seq
MIRT1334892	hsa-miR-142-5p	CLIP-seq
MIRT1334893	hsa-miR-1976	CLIP-seq
MIRT1334894	hsa-miR-2276	CLIP-seq
MIRT1334895	hsa-miR-2392	CLIP-seq
MIRT1334896	hsa-miR-3152-3p	CLIP-seq
MIRT1334897	hsa-miR-3163	CLIP-seq
MIRT1334898	hsa-miR-340	CLIP-seq
MIRT1334899	hsa-miR-3647-3p	CLIP-seq
MIRT1334900	hsa-miR-4258	CLIP-seq
MIRT1334901	hsa-miR-4282	CLIP-seq
MIRT1334902	hsa-miR-4311	CLIP-seq
MIRT1334903	hsa-miR-433	CLIP-seq
MIRT1334904	hsa-miR-4422	CLIP-seq
MIRT1334905	hsa-miR-4480	CLIP-seq
MIRT1334906	hsa-miR-451b	CLIP-seq
MIRT1334907	hsa-miR-4659a-3p	CLIP-seq
MIRT1334908	hsa-miR-4659b-3p	CLIP-seq
MIRT1334909	hsa-miR-4662a-5p	CLIP-seq
MIRT1334910	hsa-miR-4676-5p	CLIP-seq
MIRT1334911	hsa-miR-4707-3p	CLIP-seq
MIRT1334912	hsa-miR-4724-5p	CLIP-seq
MIRT1334913	hsa-miR-4735-5p	CLIP-seq
MIRT1334914	hsa-miR-4775	CLIP-seq
MIRT1334915	hsa-miR-5096	CLIP-seq
MIRT1334916	hsa-miR-515-5p	CLIP-seq
MIRT1334917	hsa-miR-548p	CLIP-seq
MIRT1334918	hsa-miR-548v	CLIP-seq
MIRT1334919	hsa-miR-575	CLIP-seq
MIRT1334920	hsa-miR-590-3p	CLIP-seq
MIRT1334921	hsa-miR-640	CLIP-seq
MIRT1334922	hsa-miR-648	CLIP-seq
MIRT1334923	hsa-miR-889	CLIP-seq
MIRT1334924	hsa-miR-892a	CLIP-seq
MIRT1334925	hsa-miR-106a	CLIP-seq
MIRT1334926	hsa-miR-106b	CLIP-seq
MIRT1334886	hsa-miR-1193	CLIP-seq
MIRT1334927	hsa-miR-1234	CLIP-seq
MIRT1334888	hsa-miR-1264	CLIP-seq
MIRT1334890	hsa-miR-1288	CLIP-seq
MIRT1334891	hsa-miR-1307	CLIP-seq
MIRT1334892	hsa-miR-142-5p	CLIP-seq
MIRT1334928	hsa-miR-150	CLIP-seq
MIRT1334929	hsa-miR-17	CLIP-seq
MIRT1334893	hsa-miR-1976	CLIP-seq
MIRT1334930	hsa-miR-20a	CLIP-seq
MIRT1334931	hsa-miR-20b	CLIP-seq
MIRT1334894	hsa-miR-2276	CLIP-seq
MIRT1334895	hsa-miR-2392	CLIP-seq
MIRT1334932	hsa-miR-27a	CLIP-seq
MIRT1334933	hsa-miR-27b	CLIP-seq
MIRT1334934	hsa-miR-296-5p	CLIP-seq
MIRT1334935	hsa-miR-302a	CLIP-seq
MIRT1334936	hsa-miR-302b	CLIP-seq
MIRT1334937	hsa-miR-302c	CLIP-seq
MIRT1334938	hsa-miR-302d	CLIP-seq
MIRT1334939	hsa-miR-302e	CLIP-seq
MIRT1334940	hsa-miR-3138	CLIP-seq
MIRT1334896	hsa-miR-3152-3p	CLIP-seq
MIRT1334898	hsa-miR-340	CLIP-seq
MIRT1334941	hsa-miR-3688-3p	CLIP-seq
MIRT1334942	hsa-miR-372	CLIP-seq
MIRT1334943	hsa-miR-373	CLIP-seq
MIRT1334944	hsa-miR-3924	CLIP-seq
MIRT1334945	hsa-miR-3973	CLIP-seq
MIRT1334903	hsa-miR-433	CLIP-seq
MIRT1334904	hsa-miR-4422	CLIP-seq
MIRT1334946	hsa-miR-4438	CLIP-seq
MIRT1334907	hsa-miR-4659a-3p	CLIP-seq
MIRT1334908	hsa-miR-4659b-3p	CLIP-seq
MIRT1334909	hsa-miR-4662a-5p	CLIP-seq
MIRT1334910	hsa-miR-4676-5p	CLIP-seq
MIRT1334947	hsa-miR-4731-5p	CLIP-seq
MIRT1334948	hsa-miR-4743	CLIP-seq
MIRT1334949	hsa-miR-4752	CLIP-seq
MIRT1334914	hsa-miR-4775	CLIP-seq
MIRT1334950	hsa-miR-4800-5p	CLIP-seq
MIRT1334951	hsa-miR-5095	CLIP-seq
MIRT1334915	hsa-miR-5096	CLIP-seq
MIRT1334952	hsa-miR-512-3p	CLIP-seq
MIRT1334953	hsa-miR-513a-5p	CLIP-seq
MIRT1334916	hsa-miR-515-5p	CLIP-seq
MIRT1334954	hsa-miR-519d	CLIP-seq
MIRT1334955	hsa-miR-520a-3p	CLIP-seq
MIRT1334956	hsa-miR-520b	CLIP-seq
MIRT1334957	hsa-miR-520c-3p	CLIP-seq
MIRT1334958	hsa-miR-520d-3p	CLIP-seq
MIRT1334959	hsa-miR-520e	CLIP-seq
MIRT1334960	hsa-miR-520g	CLIP-seq
MIRT1334961	hsa-miR-520h	CLIP-seq
MIRT1334962	hsa-miR-548ae	CLIP-seq
MIRT1334963	hsa-miR-548aj	CLIP-seq
MIRT1334964	hsa-miR-548am	CLIP-seq
MIRT1334917	hsa-miR-548p	CLIP-seq
MIRT1334965	hsa-miR-548x	CLIP-seq
MIRT1334966	hsa-miR-561	CLIP-seq
MIRT1334919	hsa-miR-575	CLIP-seq
MIRT1334920	hsa-miR-590-3p	CLIP-seq
MIRT1334967	hsa-miR-618	CLIP-seq
MIRT1334968	hsa-miR-635	CLIP-seq
MIRT1334921	hsa-miR-640	CLIP-seq
MIRT1334924	hsa-miR-892a	CLIP-seq
MIRT1334969	hsa-miR-93	CLIP-seq
MIRT1334886	hsa-miR-1193	CLIP-seq
MIRT1334893	hsa-miR-1976	CLIP-seq
MIRT1334895	hsa-miR-2392	CLIP-seq
MIRT1334903	hsa-miR-433	CLIP-seq
MIRT1334909	hsa-miR-4662a-5p	CLIP-seq
MIRT1334910	hsa-miR-4676-5p	CLIP-seq
MIRT1334915	hsa-miR-5096	CLIP-seq
MIRT1334919	hsa-miR-575	CLIP-seq
MIRT1334921	hsa-miR-640	CLIP-seq
MIRT1334886	hsa-miR-1193	CLIP-seq
MIRT1334893	hsa-miR-1976	CLIP-seq
MIRT1334895	hsa-miR-2392	CLIP-seq
MIRT1921501	hsa-miR-3149	CLIP-seq
MIRT1921502	hsa-miR-411	CLIP-seq
MIRT1334903	hsa-miR-433	CLIP-seq
MIRT1334909	hsa-miR-4662a-5p	CLIP-seq
MIRT1334910	hsa-miR-4676-5p	CLIP-seq
MIRT1921503	hsa-miR-483-5p	CLIP-seq
MIRT1334915	hsa-miR-5096	CLIP-seq
MIRT1334919	hsa-miR-575	CLIP-seq
MIRT1334921	hsa-miR-640	CLIP-seq
MIRT1334886	hsa-miR-1193	CLIP-seq
MIRT1334893	hsa-miR-1976	CLIP-seq
MIRT1334895	hsa-miR-2392	CLIP-seq
MIRT1921501	hsa-miR-3149	CLIP-seq
MIRT1921502	hsa-miR-411	CLIP-seq
MIRT1334903	hsa-miR-433	CLIP-seq
MIRT1334909	hsa-miR-4662a-5p	CLIP-seq
MIRT1334910	hsa-miR-4676-5p	CLIP-seq
MIRT1334913	hsa-miR-4735-5p	CLIP-seq
MIRT1334914	hsa-miR-4775	CLIP-seq
MIRT1921503	hsa-miR-483-5p	CLIP-seq
MIRT1334915	hsa-miR-5096	CLIP-seq
MIRT1334919	hsa-miR-575	CLIP-seq
MIRT1334920	hsa-miR-590-3p	CLIP-seq
MIRT1334921	hsa-miR-640	CLIP-seq
MIRT1334886	hsa-miR-1193	CLIP-seq
MIRT1334893	hsa-miR-1976	CLIP-seq
MIRT1334895	hsa-miR-2392	CLIP-seq
MIRT1921501	hsa-miR-3149	CLIP-seq
MIRT1921502	hsa-miR-411	CLIP-seq
MIRT1334903	hsa-miR-433	CLIP-seq
MIRT1334909	hsa-miR-4662a-5p	CLIP-seq
MIRT1334910	hsa-miR-4676-5p	CLIP-seq
MIRT1921503	hsa-miR-483-5p	CLIP-seq
MIRT1334915	hsa-miR-5096	CLIP-seq
MIRT1334919	hsa-miR-575	CLIP-seq
MIRT1334921	hsa-miR-640	CLIP-seq
MIRT1334886	hsa-miR-1193	CLIP-seq
MIRT1334893	hsa-miR-1976	CLIP-seq
MIRT1334895	hsa-miR-2392	CLIP-seq
MIRT1921501	hsa-miR-3149	CLIP-seq
MIRT1921502	hsa-miR-411	CLIP-seq
MIRT1334903	hsa-miR-433	CLIP-seq
MIRT1334909	hsa-miR-4662a-5p	CLIP-seq
MIRT1334910	hsa-miR-4676-5p	CLIP-seq
MIRT1334913	hsa-miR-4735-5p	CLIP-seq
MIRT1334914	hsa-miR-4775	CLIP-seq
MIRT1921503	hsa-miR-483-5p	CLIP-seq
MIRT1334915	hsa-miR-5096	CLIP-seq
MIRT1334919	hsa-miR-575	CLIP-seq
MIRT1334920	hsa-miR-590-3p	CLIP-seq
MIRT1334921	hsa-miR-640	CLIP-seq
MIRT1334886	hsa-miR-1193	CLIP-seq
MIRT1334893	hsa-miR-1976	CLIP-seq
MIRT1334895	hsa-miR-2392	CLIP-seq
MIRT1921501	hsa-miR-3149	CLIP-seq
MIRT1921502	hsa-miR-411	CLIP-seq
MIRT1334903	hsa-miR-433	CLIP-seq
MIRT1334909	hsa-miR-4662a-5p	CLIP-seq
MIRT1334910	hsa-miR-4676-5p	CLIP-seq
MIRT1334913	hsa-miR-4735-5p	CLIP-seq
MIRT1334914	hsa-miR-4775	CLIP-seq
MIRT1921503	hsa-miR-483-5p	CLIP-seq
MIRT1334915	hsa-miR-5096	CLIP-seq
MIRT1334919	hsa-miR-575	CLIP-seq
MIRT1334920	hsa-miR-590-3p	CLIP-seq
MIRT1334921	hsa-miR-640	CLIP-seq
MIRT1334890	hsa-miR-1288	CLIP-seq
MIRT1334891	hsa-miR-1307	CLIP-seq
MIRT1334894	hsa-miR-2276	CLIP-seq
MIRT2099024	hsa-miR-33a	CLIP-seq
MIRT2099025	hsa-miR-33b	CLIP-seq
MIRT1334900	hsa-miR-4258	CLIP-seq
MIRT1334946	hsa-miR-4438	CLIP-seq
MIRT1334911	hsa-miR-4707-3p	CLIP-seq
MIRT1334948	hsa-miR-4743	CLIP-seq
MIRT1334951	hsa-miR-5095	CLIP-seq
MIRT2099026	hsa-miR-579	CLIP-seq
MIRT2099027	hsa-miR-720	CLIP-seq
MIRT1334886	hsa-miR-1193	CLIP-seq
MIRT1334890	hsa-miR-1288	CLIP-seq
MIRT1334891	hsa-miR-1307	CLIP-seq
MIRT1334894	hsa-miR-2276	CLIP-seq
MIRT1334895	hsa-miR-2392	CLIP-seq
MIRT2323825	hsa-miR-3161	CLIP-seq
MIRT1334909	hsa-miR-4662a-5p	CLIP-seq
MIRT1334910	hsa-miR-4676-5p	CLIP-seq
MIRT1334948	hsa-miR-4743	CLIP-seq
MIRT1334915	hsa-miR-5096	CLIP-seq
MIRT1334919	hsa-miR-575	CLIP-seq
MIRT2099027	hsa-miR-720	CLIP-seq
MIRT1334900	hsa-miR-4258	CLIP-seq
MIRT1334946	hsa-miR-4438	CLIP-seq
MIRT1334911	hsa-miR-4707-3p	CLIP-seq
MIRT1334913	hsa-miR-4735-5p	CLIP-seq
MIRT1334914	hsa-miR-4775	CLIP-seq
MIRT1334951	hsa-miR-5095	CLIP-seq
MIRT2099026	hsa-miR-579	CLIP-seq
MIRT1334920	hsa-miR-590-3p	CLIP-seq
MIRT1334925	hsa-miR-106a	CLIP-seq
MIRT1334926	hsa-miR-106b	CLIP-seq
MIRT1334886	hsa-miR-1193	CLIP-seq
MIRT1334927	hsa-miR-1234	CLIP-seq
MIRT1334890	hsa-miR-1288	CLIP-seq
MIRT1334891	hsa-miR-1307	CLIP-seq
MIRT1334928	hsa-miR-150	CLIP-seq
MIRT1334929	hsa-miR-17	CLIP-seq
MIRT1334893	hsa-miR-1976	CLIP-seq
MIRT1334930	hsa-miR-20a	CLIP-seq
MIRT1334931	hsa-miR-20b	CLIP-seq
MIRT1334894	hsa-miR-2276	CLIP-seq
MIRT1334895	hsa-miR-2392	CLIP-seq
MIRT1334935	hsa-miR-302a	CLIP-seq
MIRT1334936	hsa-miR-302b	CLIP-seq
MIRT1334937	hsa-miR-302c	CLIP-seq
MIRT1334938	hsa-miR-302d	CLIP-seq
MIRT1334939	hsa-miR-302e	CLIP-seq
MIRT1921501	hsa-miR-3149	CLIP-seq
MIRT2619727	hsa-miR-3199	CLIP-seq
MIRT1334942	hsa-miR-372	CLIP-seq
MIRT1334943	hsa-miR-373	CLIP-seq
MIRT1921502	hsa-miR-411	CLIP-seq
MIRT1334900	hsa-miR-4258	CLIP-seq
MIRT2619728	hsa-miR-4279	CLIP-seq
MIRT1334903	hsa-miR-433	CLIP-seq
MIRT1334946	hsa-miR-4438	CLIP-seq
MIRT1334909	hsa-miR-4662a-5p	CLIP-seq
MIRT1334910	hsa-miR-4676-5p	CLIP-seq
MIRT1334911	hsa-miR-4707-3p	CLIP-seq
MIRT2619729	hsa-miR-4722-3p	CLIP-seq
MIRT1334947	hsa-miR-4731-5p	CLIP-seq
MIRT1334913	hsa-miR-4735-5p	CLIP-seq
MIRT1334948	hsa-miR-4743	CLIP-seq
MIRT1334914	hsa-miR-4775	CLIP-seq
MIRT1921503	hsa-miR-483-5p	CLIP-seq
MIRT1334951	hsa-miR-5095	CLIP-seq
MIRT1334915	hsa-miR-5096	CLIP-seq
MIRT1334952	hsa-miR-512-3p	CLIP-seq
MIRT1334954	hsa-miR-519d	CLIP-seq
MIRT1334955	hsa-miR-520a-3p	CLIP-seq
MIRT1334956	hsa-miR-520b	CLIP-seq
MIRT1334957	hsa-miR-520c-3p	CLIP-seq
MIRT1334958	hsa-miR-520d-3p	CLIP-seq
MIRT1334959	hsa-miR-520e	CLIP-seq
MIRT1334960	hsa-miR-520g	CLIP-seq
MIRT1334961	hsa-miR-520h	CLIP-seq
MIRT1334919	hsa-miR-575	CLIP-seq
MIRT1334920	hsa-miR-590-3p	CLIP-seq
MIRT1334921	hsa-miR-640	CLIP-seq
MIRT2099027	hsa-miR-720	CLIP-seq
MIRT1334969	hsa-miR-93	CLIP-seq
MIRT1334925	hsa-miR-106a	CLIP-seq
MIRT1334926	hsa-miR-106b	CLIP-seq
MIRT1334886	hsa-miR-1193	CLIP-seq
MIRT1334927	hsa-miR-1234	CLIP-seq
MIRT1334890	hsa-miR-1288	CLIP-seq
MIRT1334891	hsa-miR-1307	CLIP-seq
MIRT1334928	hsa-miR-150	CLIP-seq
MIRT1334929	hsa-miR-17	CLIP-seq
MIRT1334893	hsa-miR-1976	CLIP-seq
MIRT1334930	hsa-miR-20a	CLIP-seq
MIRT1334931	hsa-miR-20b	CLIP-seq
MIRT1334894	hsa-miR-2276	CLIP-seq
MIRT1334895	hsa-miR-2392	CLIP-seq
MIRT1334935	hsa-miR-302a	CLIP-seq
MIRT1334936	hsa-miR-302b	CLIP-seq
MIRT1334937	hsa-miR-302c	CLIP-seq
MIRT1334938	hsa-miR-302d	CLIP-seq
MIRT1334939	hsa-miR-302e	CLIP-seq
MIRT1921501	hsa-miR-3149	CLIP-seq
MIRT2619727	hsa-miR-3199	CLIP-seq
MIRT1334942	hsa-miR-372	CLIP-seq
MIRT1334943	hsa-miR-373	CLIP-seq
MIRT1921502	hsa-miR-411	CLIP-seq
MIRT1334900	hsa-miR-4258	CLIP-seq
MIRT2619728	hsa-miR-4279	CLIP-seq
MIRT1334903	hsa-miR-433	CLIP-seq
MIRT1334946	hsa-miR-4438	CLIP-seq
MIRT1334909	hsa-miR-4662a-5p	CLIP-seq
MIRT1334910	hsa-miR-4676-5p	CLIP-seq
MIRT1334911	hsa-miR-4707-3p	CLIP-seq
MIRT2619729	hsa-miR-4722-3p	CLIP-seq
MIRT1334947	hsa-miR-4731-5p	CLIP-seq
MIRT1334913	hsa-miR-4735-5p	CLIP-seq
MIRT1334948	hsa-miR-4743	CLIP-seq
MIRT1334914	hsa-miR-4775	CLIP-seq
MIRT1921503	hsa-miR-483-5p	CLIP-seq
MIRT1334951	hsa-miR-5095	CLIP-seq
MIRT1334915	hsa-miR-5096	CLIP-seq
MIRT1334952	hsa-miR-512-3p	CLIP-seq
MIRT1334954	hsa-miR-519d	CLIP-seq
MIRT1334955	hsa-miR-520a-3p	CLIP-seq
MIRT1334956	hsa-miR-520b	CLIP-seq
MIRT1334957	hsa-miR-520c-3p	CLIP-seq
MIRT1334958	hsa-miR-520d-3p	CLIP-seq
MIRT1334959	hsa-miR-520e	CLIP-seq
MIRT1334960	hsa-miR-520g	CLIP-seq
MIRT1334961	hsa-miR-520h	CLIP-seq
MIRT1334919	hsa-miR-575	CLIP-seq
MIRT1334920	hsa-miR-590-3p	CLIP-seq
MIRT1334921	hsa-miR-640	CLIP-seq
MIRT2099027	hsa-miR-720	CLIP-seq
MIRT1334969	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	ISS
GO:0001755	Process	Neural crest cell migration	IBA
GO:0001953	Process	Negative regulation of cell-matrix adhesion	IEA
GO:0001953	Process	Negative regulation of cell-matrix adhesion	ISS
GO:0002040	Process	Sprouting angiogenesis	IEA
GO:0002040	Process	Sprouting angiogenesis	ISS
GO:0005515	Function	Protein binding	IPI	17318185
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	TAS	9515811
GO:0005886	Component	Plasma membrane	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0016525	Process	Negative regulation of angiogenesis	ISS
GO:0021828	Process	Gonadotrophin-releasing hormone neuronal migration to the hypothalamus	IDA	25985275
GO:0030154	Process	Cell differentiation	IEA
GO:0030215	Function	Semaphorin receptor binding	IBA
GO:0030215	Function	Semaphorin receptor binding	IEA
GO:0030215	Function	Semaphorin receptor binding	IPI	25985275
GO:0030335	Process	Positive regulation of cell migration	IBA
GO:0030900	Process	Forebrain development	IEA
GO:0038191	Function	Neuropilin binding	IBA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IDA	25985275
GO:0045499	Function	Chemorepellent activity	IBA
GO:0048018	Function	Receptor ligand activity	IDA	25985275
GO:0050808	Process	Synapse organization	IEA
GO:0050808	Process	Synapse organization	ISS
GO:0050919	Process	Negative chemotaxis	IBA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	25985275
GO:0071526	Process	Semaphorin-plexin signaling pathway	IBA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IEA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IGI	25985275
GO:0071526	Process	Semaphorin-plexin signaling pathway	ISS

Other IDs

• MIM: 608166
• HGNC: 10727
• e!Ensembl: ENSG00000170381

Protein

• UniProt ID: O15041
• Protein name: Semaphorin-3E
• Protein function: Plays an important role in signaling via the cell surface receptor PLXND1. Mediates reorganization of the actin cytoskeleton, leading to the retraction of cell projections. Promotes focal adhesion disassembly and inhibits adhesion of endothelial
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01403	Sema	60 → 498	Sema domain	Family
  PF00047	ig	585 → 669	Immunoglobulin domain	Domain

• Sequence:

  MASAGHIITLLLWGYLLELWTGGHTADTTHPRLRLSHKELLNLNRTSIFHSPFGFLDLHT
  MLLDEYQERLFVGGRDLVYSLSLERISDGYKEIHWPSTALKMEECIMKGKDAGECANYVR
  VLHHYNRTHLLTCGTGAFDPVCAFIRVGYHLEDPLFHLESPRSERGRGRCPFDPSSSFIS
  TLIGSELFAGLYSDYWSRDAAIFRSMGRLAHIRTEHDDERLLKEPKFVGSYMIPDNEDRD
  DNKVYFFFTEKALEAENNAHAIYTRVGRLCVNDVGGQRILVNKWSTFLKARLVCSVPGMN
  GIDTYFDELEDVFLLPTRDHKNPVIFGLFNTTSNIFRGHAICVYHMSSIRAAFNGPYAHK
  EGPEYHWSVYEGKVPYPRPGSCASKVNGGRYGTTKDYPDDAIRFARSHPLMYQAIKPAHK
  KPILVKTDGKYNLKQIAVDRVEAEDGQYDVLFIGTDNGIVLKVITIYNQEMESMEEVILE
  ELQIFKDPVPIISMEISSKRQQLYIGSASAVAQVRFHHCDMYGSACADCCLARDPYCAWD
  GISCSRYYPTGTHAKRRFRRQDVRHGNAAQQCFGQQFVGDALDKTEEHLAYGIENNSTLL
  ECTPRSLQAKVIWFVQKGRETRKEEVKTDDRVVKMDLGLLFLRLHKSDAGTYFCQTVEHS
  FVHTVRKITLEVVEEEKVEDMFNKDDEEDRHHRMPCPAQSSISQGAKPWYKEFLQLIGYS
  NFQRVEEYCEKVWCTDRKRKKLKMSPSKWKYANPQEKKLRSKPEHYRLPRHTLDS

• Sequence length: 775

Pathways

KEGG:

Axon guidance

Reactome:

Other semaphorin interactions

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
CHARGE syndrome	Likely pathogenic	rs2115654665	RCV001824193	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Amenorrhea	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THROMBOCYTOPENIC PURPURA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADOTROPIC HYPOGONADISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism 5 with or without anosmia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar ClinVar, HPO ClinVar, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory bowel disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated anophthalmia-microphthalmia syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMA3E-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	27725196		★☆☆☆☆ Found in Text Mining only
Aneurysm of aortic arch	Aneurysm Of Aortic Arch	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aqueductal Stenosis	Aqueductal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31581070		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28108561, 29228740		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	31581070		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27666723	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30007159		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	GENOMICS_ENGLAND_DG	12144540, 15235037, 25985275		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARGE Syndrome	CHARGE Syndrome	ORPHANET_DG	15235037		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARGE syndrome	CHARGE Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARGE Syndrome	CHARGE Syndrome	BEFREE	28263850, 31464029, 31691538		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARGE Syndrome	Charge syndrome	Pubtator	31691538	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARGE Syndrome	CHARGE Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARGE Syndrome	CHARGE Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31170375		★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27120047		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	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 omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30846754		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30846754		★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	HPO_DG			★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30251099		★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial CHARGE Syndrome	CHARGE Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22936999		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22936999		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	27725196		★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss, Mixed Conductive-Sensorineural	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	27725196		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	33270637	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infantile hemangioma	Hemangioma	BEFREE	26086095		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	37175783	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Interrupted aortic arch	Interrupted aortic arch	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30007159, 30653356		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	25985275		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27666723, 28951630	Associate	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20949546		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26036259, 27572291		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20664171, 22247010		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18974298		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metastatic melanoma	Metastatic Melanoma	BEFREE	18974298		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18974298, 20664171, 21710492, 26036259, 27120047		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30846754		★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21559368	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28793334	Inhibit	★☆☆☆☆ Found in Text Mining only
Parathyroid hypoplasia	Parathyroid hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20949546		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Raynaud Disease	Raynaud disease	Pubtator	26292963	Stimulate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	26292963	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27666723	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	27666723		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26036259, 27572291		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	26086095		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	31581070		★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30736100, 31170375		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only