Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1954
Gene name	Multiple EGF like domains 8
Gene symbol	MEGF8
Synonyms (NCBI Gene)	C19orf49CRPT2EGFL4SBP1
Chromosome	19
Chromosome location	19q13.2
Summary	The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encodin

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SNP ID	Visualize variation	Clinical significance	Consequence
rs141224456	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514621	C>T	Pathogenic	Stop gained, coding sequence variant
rs397515427	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs397515428	A>G	Pathogenic	Coding sequence variant, missense variant
rs1206116606	G>C	Pathogenic	Splice donor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029661	hsa-miR-26b-5p	Microarray	19088304
MIRT051194	hsa-miR-16-5p	CLASH	23622248
MIRT042296	hsa-miR-484	CLASH	23622248
MIRT041496	hsa-miR-193b-3p	CLASH	23622248
MIRT040080	hsa-miR-615-3p	CLASH	23622248
MIRT1142478	hsa-miR-1224-3p	CLIP-seq
MIRT1142479	hsa-miR-1279	CLIP-seq
MIRT1142480	hsa-miR-1281	CLIP-seq
MIRT1142481	hsa-miR-1343	CLIP-seq
MIRT1142482	hsa-miR-192	CLIP-seq
MIRT1142483	hsa-miR-197	CLIP-seq
MIRT1142484	hsa-miR-2053	CLIP-seq
MIRT1142485	hsa-miR-215	CLIP-seq
MIRT1142486	hsa-miR-3064-3p	CLIP-seq
MIRT1142487	hsa-miR-3074-5p	CLIP-seq
MIRT1142488	hsa-miR-3121-3p	CLIP-seq
MIRT1142489	hsa-miR-3170	CLIP-seq
MIRT1142490	hsa-miR-3182	CLIP-seq
MIRT1142491	hsa-miR-3187-3p	CLIP-seq
MIRT1142492	hsa-miR-3189-5p	CLIP-seq
MIRT1142493	hsa-miR-370	CLIP-seq
MIRT1142494	hsa-miR-383	CLIP-seq
MIRT1142495	hsa-miR-412	CLIP-seq
MIRT1142496	hsa-miR-4279	CLIP-seq
MIRT1142497	hsa-miR-4435	CLIP-seq
MIRT1142498	hsa-miR-4469	CLIP-seq
MIRT1142499	hsa-miR-4659a-3p	CLIP-seq
MIRT1142500	hsa-miR-4659b-3p	CLIP-seq
MIRT1142501	hsa-miR-4680-5p	CLIP-seq
MIRT1142502	hsa-miR-4690-3p	CLIP-seq
MIRT1142503	hsa-miR-4701-5p	CLIP-seq
MIRT1142504	hsa-miR-4727-5p	CLIP-seq
MIRT1142505	hsa-miR-4755-3p	CLIP-seq
MIRT1142506	hsa-miR-4758-3p	CLIP-seq
MIRT1142507	hsa-miR-4772-5p	CLIP-seq
MIRT1142508	hsa-miR-4775	CLIP-seq
MIRT1142509	hsa-miR-4797-5p	CLIP-seq
MIRT1142510	hsa-miR-498	CLIP-seq
MIRT1142511	hsa-miR-5096	CLIP-seq
MIRT1142512	hsa-miR-548s	CLIP-seq
MIRT1142513	hsa-miR-569	CLIP-seq
MIRT1142514	hsa-miR-588	CLIP-seq
MIRT1142515	hsa-miR-617	CLIP-seq
MIRT1142516	hsa-miR-659	CLIP-seq
MIRT1551224	hsa-miR-3151	CLIP-seq
MIRT1551225	hsa-miR-342-5p	CLIP-seq
MIRT1551226	hsa-miR-3650	CLIP-seq
MIRT1142495	hsa-miR-412	CLIP-seq
MIRT1551227	hsa-miR-4447	CLIP-seq
MIRT1551228	hsa-miR-4455	CLIP-seq
MIRT1551229	hsa-miR-4472	CLIP-seq
MIRT1551230	hsa-miR-4651	CLIP-seq
MIRT1551231	hsa-miR-4664-5p	CLIP-seq
MIRT1551232	hsa-miR-491-5p	CLIP-seq
MIRT1551233	hsa-miR-608	CLIP-seq
MIRT1142515	hsa-miR-617	CLIP-seq
MIRT2040496	hsa-miR-122	CLIP-seq
MIRT2040497	hsa-miR-1266	CLIP-seq
MIRT2040498	hsa-miR-128	CLIP-seq
MIRT1142480	hsa-miR-1281	CLIP-seq
MIRT2040499	hsa-miR-1289	CLIP-seq
MIRT2040500	hsa-miR-129-5p	CLIP-seq
MIRT2040501	hsa-miR-1304	CLIP-seq
MIRT1142481	hsa-miR-1343	CLIP-seq
MIRT2040502	hsa-miR-2355-3p	CLIP-seq
MIRT2040503	hsa-miR-2467-3p	CLIP-seq
MIRT2040504	hsa-miR-27a	CLIP-seq
MIRT2040505	hsa-miR-27b	CLIP-seq
MIRT1142490	hsa-miR-3182	CLIP-seq
MIRT2040506	hsa-miR-3198	CLIP-seq
MIRT2040507	hsa-miR-3200-5p	CLIP-seq
MIRT2040508	hsa-miR-365	CLIP-seq
MIRT2040509	hsa-miR-3664-3p	CLIP-seq
MIRT2040510	hsa-miR-3670	CLIP-seq
MIRT1142495	hsa-miR-412	CLIP-seq
MIRT2040511	hsa-miR-4257	CLIP-seq
MIRT2040512	hsa-miR-4269	CLIP-seq
MIRT2040513	hsa-miR-4294	CLIP-seq
MIRT2040514	hsa-miR-4303	CLIP-seq
MIRT2040515	hsa-miR-4309	CLIP-seq
MIRT1142498	hsa-miR-4469	CLIP-seq
MIRT2040516	hsa-miR-4514	CLIP-seq
MIRT2040517	hsa-miR-4518	CLIP-seq
MIRT2040518	hsa-miR-4646-3p	CLIP-seq
MIRT1142499	hsa-miR-4659a-3p	CLIP-seq
MIRT1142500	hsa-miR-4659b-3p	CLIP-seq
MIRT2040519	hsa-miR-4692	CLIP-seq
MIRT2040520	hsa-miR-4695-3p	CLIP-seq
MIRT2040521	hsa-miR-4713-5p	CLIP-seq
MIRT2040522	hsa-miR-4726-3p	CLIP-seq
MIRT1142504	hsa-miR-4727-5p	CLIP-seq
MIRT2040523	hsa-miR-4740-3p	CLIP-seq
MIRT2040524	hsa-miR-4742-5p	CLIP-seq
MIRT2040525	hsa-miR-4772-3p	CLIP-seq
MIRT1142510	hsa-miR-498	CLIP-seq
MIRT2040526	hsa-miR-520f	CLIP-seq
MIRT1142515	hsa-miR-617	CLIP-seq
MIRT1142516	hsa-miR-659	CLIP-seq
MIRT2040527	hsa-miR-720	CLIP-seq
MIRT2270270	hsa-miR-106a	CLIP-seq
MIRT2270271	hsa-miR-106b	CLIP-seq
MIRT2040496	hsa-miR-122	CLIP-seq
MIRT1142478	hsa-miR-1224-3p	CLIP-seq
MIRT1142480	hsa-miR-1281	CLIP-seq
MIRT1142481	hsa-miR-1343	CLIP-seq
MIRT2270272	hsa-miR-17	CLIP-seq
MIRT2270273	hsa-miR-20a	CLIP-seq
MIRT2270274	hsa-miR-20b	CLIP-seq
MIRT2270275	hsa-miR-302a	CLIP-seq
MIRT2270276	hsa-miR-302b	CLIP-seq
MIRT2270277	hsa-miR-302c	CLIP-seq
MIRT2270278	hsa-miR-302d	CLIP-seq
MIRT2270279	hsa-miR-302e	CLIP-seq
MIRT2270280	hsa-miR-3179	CLIP-seq
MIRT1142490	hsa-miR-3182	CLIP-seq
MIRT2040506	hsa-miR-3198	CLIP-seq
MIRT2040507	hsa-miR-3200-5p	CLIP-seq
MIRT2270281	hsa-miR-3663-5p	CLIP-seq
MIRT2270282	hsa-miR-3667-3p	CLIP-seq
MIRT2040510	hsa-miR-3670	CLIP-seq
MIRT2270283	hsa-miR-371-5p	CLIP-seq
MIRT2270284	hsa-miR-371b-5p	CLIP-seq
MIRT2270285	hsa-miR-372	CLIP-seq
MIRT2270286	hsa-miR-373	CLIP-seq
MIRT2270287	hsa-miR-3973	CLIP-seq
MIRT2040514	hsa-miR-4303	CLIP-seq
MIRT2040515	hsa-miR-4309	CLIP-seq
MIRT2270288	hsa-miR-4328	CLIP-seq
MIRT1142498	hsa-miR-4469	CLIP-seq
MIRT1142499	hsa-miR-4659a-3p	CLIP-seq
MIRT1142500	hsa-miR-4659b-3p	CLIP-seq
MIRT1142502	hsa-miR-4690-3p	CLIP-seq
MIRT2040522	hsa-miR-4726-3p	CLIP-seq
MIRT1142504	hsa-miR-4727-5p	CLIP-seq
MIRT2270289	hsa-miR-4757-5p	CLIP-seq
MIRT2040525	hsa-miR-4772-3p	CLIP-seq
MIRT1142510	hsa-miR-498	CLIP-seq
MIRT2270290	hsa-miR-519d	CLIP-seq
MIRT2270291	hsa-miR-520a-3p	CLIP-seq
MIRT2270292	hsa-miR-520b	CLIP-seq
MIRT2270293	hsa-miR-520c-3p	CLIP-seq
MIRT2270294	hsa-miR-520d-3p	CLIP-seq
MIRT2270295	hsa-miR-520e	CLIP-seq
MIRT2270296	hsa-miR-520g	CLIP-seq
MIRT2270297	hsa-miR-520h	CLIP-seq
MIRT2270298	hsa-miR-93	CLIP-seq
MIRT2390805	hsa-miR-1206	CLIP-seq
MIRT1142488	hsa-miR-3121-3p	CLIP-seq
MIRT2390806	hsa-miR-3607-5p	CLIP-seq
MIRT1142495	hsa-miR-412	CLIP-seq
MIRT1142508	hsa-miR-4775	CLIP-seq
MIRT1142515	hsa-miR-617	CLIP-seq
MIRT1142480	hsa-miR-1281	CLIP-seq
MIRT1142481	hsa-miR-1343	CLIP-seq
MIRT2453972	hsa-miR-3149	CLIP-seq
MIRT1142489	hsa-miR-3170	CLIP-seq
MIRT1142490	hsa-miR-3182	CLIP-seq
MIRT2040508	hsa-miR-365	CLIP-seq
MIRT2453973	hsa-miR-411	CLIP-seq
MIRT1142499	hsa-miR-4659a-3p	CLIP-seq
MIRT1142500	hsa-miR-4659b-3p	CLIP-seq
MIRT2453974	hsa-miR-4715-3p	CLIP-seq
MIRT1142504	hsa-miR-4727-5p	CLIP-seq
MIRT2453975	hsa-miR-4735-5p	CLIP-seq
MIRT2040523	hsa-miR-4740-3p	CLIP-seq
MIRT1142508	hsa-miR-4775	CLIP-seq
MIRT1142510	hsa-miR-498	CLIP-seq
MIRT2453976	hsa-miR-590-3p	CLIP-seq
MIRT2270270	hsa-miR-106a	CLIP-seq
MIRT2270271	hsa-miR-106b	CLIP-seq
MIRT2390805	hsa-miR-1206	CLIP-seq
MIRT2040496	hsa-miR-122	CLIP-seq
MIRT1142478	hsa-miR-1224-3p	CLIP-seq
MIRT2569359	hsa-miR-1245	CLIP-seq
MIRT2569360	hsa-miR-1264	CLIP-seq
MIRT2040497	hsa-miR-1266	CLIP-seq
MIRT1142479	hsa-miR-1279	CLIP-seq
MIRT2040498	hsa-miR-128	CLIP-seq
MIRT1142480	hsa-miR-1281	CLIP-seq
MIRT2569361	hsa-miR-1285	CLIP-seq
MIRT1142481	hsa-miR-1343	CLIP-seq
MIRT2569362	hsa-miR-147	CLIP-seq
MIRT2569363	hsa-miR-1470	CLIP-seq
MIRT2270272	hsa-miR-17	CLIP-seq
MIRT2569364	hsa-miR-188-3p	CLIP-seq
MIRT1142482	hsa-miR-192	CLIP-seq
MIRT1142483	hsa-miR-197	CLIP-seq
MIRT2270273	hsa-miR-20a	CLIP-seq
MIRT2270274	hsa-miR-20b	CLIP-seq
MIRT2569365	hsa-miR-2114	CLIP-seq
MIRT1142485	hsa-miR-215	CLIP-seq
MIRT2569366	hsa-miR-22	CLIP-seq
MIRT2569367	hsa-miR-2467-5p	CLIP-seq
MIRT2040504	hsa-miR-27a	CLIP-seq
MIRT2040505	hsa-miR-27b	CLIP-seq
MIRT2569368	hsa-miR-28-5p	CLIP-seq
MIRT2569369	hsa-miR-298	CLIP-seq
MIRT2270275	hsa-miR-302a	CLIP-seq
MIRT2270276	hsa-miR-302b	CLIP-seq
MIRT2270277	hsa-miR-302c	CLIP-seq
MIRT2270278	hsa-miR-302d	CLIP-seq
MIRT2270279	hsa-miR-302e	CLIP-seq
MIRT1142486	hsa-miR-3064-3p	CLIP-seq
MIRT1142488	hsa-miR-3121-3p	CLIP-seq
MIRT2569370	hsa-miR-3132	CLIP-seq
MIRT2569371	hsa-miR-3134	CLIP-seq
MIRT2569372	hsa-miR-3139	CLIP-seq
MIRT2453972	hsa-miR-3149	CLIP-seq
MIRT2569373	hsa-miR-3153	CLIP-seq
MIRT1142489	hsa-miR-3170	CLIP-seq
MIRT2569374	hsa-miR-3173-3p	CLIP-seq
MIRT1142490	hsa-miR-3182	CLIP-seq
MIRT2569375	hsa-miR-3183	CLIP-seq
MIRT1142491	hsa-miR-3187-3p	CLIP-seq
MIRT2569376	hsa-miR-3187-5p	CLIP-seq
MIRT2569377	hsa-miR-3188	CLIP-seq
MIRT1142492	hsa-miR-3189-5p	CLIP-seq
MIRT2040506	hsa-miR-3198	CLIP-seq
MIRT2040507	hsa-miR-3200-5p	CLIP-seq
MIRT1551225	hsa-miR-342-5p	CLIP-seq
MIRT2390806	hsa-miR-3607-5p	CLIP-seq
MIRT2569378	hsa-miR-3612	CLIP-seq
MIRT2040509	hsa-miR-3664-3p	CLIP-seq
MIRT2569379	hsa-miR-3677-5p	CLIP-seq
MIRT2270283	hsa-miR-371-5p	CLIP-seq
MIRT2270284	hsa-miR-371b-5p	CLIP-seq
MIRT2270285	hsa-miR-372	CLIP-seq
MIRT2270286	hsa-miR-373	CLIP-seq
MIRT2569380	hsa-miR-378g	CLIP-seq
MIRT1142494	hsa-miR-383	CLIP-seq
MIRT2569381	hsa-miR-3913-3p	CLIP-seq
MIRT2569382	hsa-miR-3921	CLIP-seq
MIRT2270287	hsa-miR-3973	CLIP-seq
MIRT2569383	hsa-miR-3975	CLIP-seq
MIRT2453973	hsa-miR-411	CLIP-seq
MIRT2040512	hsa-miR-4269	CLIP-seq
MIRT2569384	hsa-miR-4287	CLIP-seq
MIRT2569385	hsa-miR-4292	CLIP-seq
MIRT2040514	hsa-miR-4303	CLIP-seq
MIRT2040515	hsa-miR-4309	CLIP-seq
MIRT2569386	hsa-miR-4428	CLIP-seq
MIRT1142497	hsa-miR-4435	CLIP-seq
MIRT2569387	hsa-miR-4443	CLIP-seq
MIRT1142498	hsa-miR-4469	CLIP-seq
MIRT2569388	hsa-miR-4486	CLIP-seq
MIRT2569389	hsa-miR-450b-3p	CLIP-seq
MIRT2040516	hsa-miR-4514	CLIP-seq
MIRT2040517	hsa-miR-4518	CLIP-seq
MIRT2569390	hsa-miR-4534	CLIP-seq
MIRT2569391	hsa-miR-4633-3p	CLIP-seq
MIRT2569392	hsa-miR-4643	CLIP-seq
MIRT2569393	hsa-miR-4649-3p	CLIP-seq
MIRT1551230	hsa-miR-4651	CLIP-seq
MIRT2569394	hsa-miR-4653-5p	CLIP-seq
MIRT2569395	hsa-miR-4654	CLIP-seq
MIRT1142499	hsa-miR-4659a-3p	CLIP-seq
MIRT1142500	hsa-miR-4659b-3p	CLIP-seq
MIRT2569396	hsa-miR-466	CLIP-seq
MIRT1551231	hsa-miR-4664-5p	CLIP-seq
MIRT2569397	hsa-miR-4667-3p	CLIP-seq
MIRT2569398	hsa-miR-4668-5p	CLIP-seq
MIRT1142501	hsa-miR-4680-5p	CLIP-seq
MIRT2569399	hsa-miR-4685-3p	CLIP-seq
MIRT1142502	hsa-miR-4690-3p	CLIP-seq
MIRT2040519	hsa-miR-4692	CLIP-seq
MIRT2040520	hsa-miR-4695-3p	CLIP-seq
MIRT2569400	hsa-miR-4695-5p	CLIP-seq
MIRT1142503	hsa-miR-4701-5p	CLIP-seq
MIRT2569401	hsa-miR-4713-3p	CLIP-seq
MIRT2040521	hsa-miR-4713-5p	CLIP-seq
MIRT2453974	hsa-miR-4715-3p	CLIP-seq
MIRT2569402	hsa-miR-4723-3p	CLIP-seq
MIRT2040522	hsa-miR-4726-3p	CLIP-seq
MIRT1142504	hsa-miR-4727-5p	CLIP-seq
MIRT2569403	hsa-miR-4729	CLIP-seq
MIRT2453975	hsa-miR-4735-5p	CLIP-seq
MIRT2040523	hsa-miR-4740-3p	CLIP-seq
MIRT2040524	hsa-miR-4742-5p	CLIP-seq
MIRT1142505	hsa-miR-4755-3p	CLIP-seq
MIRT2270289	hsa-miR-4757-5p	CLIP-seq
MIRT2569404	hsa-miR-4769-5p	CLIP-seq
MIRT1142507	hsa-miR-4772-5p	CLIP-seq
MIRT1142508	hsa-miR-4775	CLIP-seq
MIRT2569405	hsa-miR-4786-3p	CLIP-seq
MIRT2569406	hsa-miR-4789-3p	CLIP-seq
MIRT1142509	hsa-miR-4797-5p	CLIP-seq
MIRT2569407	hsa-miR-485-5p	CLIP-seq
MIRT2569408	hsa-miR-489	CLIP-seq
MIRT1142510	hsa-miR-498	CLIP-seq
MIRT1142511	hsa-miR-5096	CLIP-seq
MIRT2569409	hsa-miR-516b	CLIP-seq
MIRT2569410	hsa-miR-518a-5p	CLIP-seq
MIRT2270290	hsa-miR-519d	CLIP-seq
MIRT2270291	hsa-miR-520a-3p	CLIP-seq
MIRT2270292	hsa-miR-520b	CLIP-seq
MIRT2270293	hsa-miR-520c-3p	CLIP-seq
MIRT2270294	hsa-miR-520d-3p	CLIP-seq
MIRT2270295	hsa-miR-520e	CLIP-seq
MIRT2040526	hsa-miR-520f	CLIP-seq
MIRT2270296	hsa-miR-520g	CLIP-seq
MIRT2270297	hsa-miR-520h	CLIP-seq
MIRT2569411	hsa-miR-527	CLIP-seq
MIRT1142512	hsa-miR-548s	CLIP-seq
MIRT2569412	hsa-miR-550b	CLIP-seq
MIRT2569413	hsa-miR-581	CLIP-seq
MIRT2569414	hsa-miR-587	CLIP-seq
MIRT1142514	hsa-miR-588	CLIP-seq
MIRT2453976	hsa-miR-590-3p	CLIP-seq
MIRT1551233	hsa-miR-608	CLIP-seq
MIRT2569415	hsa-miR-612	CLIP-seq
MIRT2569416	hsa-miR-635	CLIP-seq
MIRT2569417	hsa-miR-637	CLIP-seq
MIRT2569418	hsa-miR-638	CLIP-seq
MIRT2569419	hsa-miR-642a	CLIP-seq
MIRT2569420	hsa-miR-650	CLIP-seq
MIRT2569421	hsa-miR-663b	CLIP-seq
MIRT2569422	hsa-miR-665	CLIP-seq
MIRT2569423	hsa-miR-708	CLIP-seq
MIRT2569424	hsa-miR-769-3p	CLIP-seq
MIRT2270298	hsa-miR-93	CLIP-seq
MIRT2040496	hsa-miR-122	CLIP-seq
MIRT1142478	hsa-miR-1224-3p	CLIP-seq
MIRT2569359	hsa-miR-1245	CLIP-seq
MIRT2569360	hsa-miR-1264	CLIP-seq
MIRT2040497	hsa-miR-1266	CLIP-seq
MIRT2040498	hsa-miR-128	CLIP-seq
MIRT1142480	hsa-miR-1281	CLIP-seq
MIRT2569361	hsa-miR-1285	CLIP-seq
MIRT2684823	hsa-miR-1321	CLIP-seq
MIRT1142481	hsa-miR-1343	CLIP-seq
MIRT2569362	hsa-miR-147	CLIP-seq
MIRT2569363	hsa-miR-1470	CLIP-seq
MIRT1142483	hsa-miR-197	CLIP-seq
MIRT2569365	hsa-miR-2114	CLIP-seq
MIRT2569366	hsa-miR-22	CLIP-seq
MIRT2040503	hsa-miR-2467-3p	CLIP-seq
MIRT2569367	hsa-miR-2467-5p	CLIP-seq
MIRT2040504	hsa-miR-27a	CLIP-seq
MIRT2040505	hsa-miR-27b	CLIP-seq
MIRT2569368	hsa-miR-28-5p	CLIP-seq
MIRT1142486	hsa-miR-3064-3p	CLIP-seq
MIRT1142488	hsa-miR-3121-3p	CLIP-seq
MIRT2569370	hsa-miR-3132	CLIP-seq
MIRT2569371	hsa-miR-3134	CLIP-seq
MIRT2569372	hsa-miR-3139	CLIP-seq
MIRT2453972	hsa-miR-3149	CLIP-seq
MIRT2569373	hsa-miR-3153	CLIP-seq
MIRT2684824	hsa-miR-3154	CLIP-seq
MIRT1142489	hsa-miR-3170	CLIP-seq
MIRT1142490	hsa-miR-3182	CLIP-seq
MIRT2569375	hsa-miR-3183	CLIP-seq
MIRT2569376	hsa-miR-3187-5p	CLIP-seq
MIRT2569377	hsa-miR-3188	CLIP-seq
MIRT1142492	hsa-miR-3189-5p	CLIP-seq
MIRT2040506	hsa-miR-3198	CLIP-seq
MIRT1551225	hsa-miR-342-5p	CLIP-seq
MIRT2569378	hsa-miR-3612	CLIP-seq
MIRT2040509	hsa-miR-3664-3p	CLIP-seq
MIRT2569379	hsa-miR-3677-5p	CLIP-seq
MIRT2569380	hsa-miR-378g	CLIP-seq
MIRT2569381	hsa-miR-3913-3p	CLIP-seq
MIRT2569382	hsa-miR-3921	CLIP-seq
MIRT2569383	hsa-miR-3975	CLIP-seq
MIRT2453973	hsa-miR-411	CLIP-seq
MIRT2040511	hsa-miR-4257	CLIP-seq
MIRT2040512	hsa-miR-4269	CLIP-seq
MIRT2569384	hsa-miR-4287	CLIP-seq
MIRT2569385	hsa-miR-4292	CLIP-seq
MIRT2040515	hsa-miR-4309	CLIP-seq
MIRT2684825	hsa-miR-4419a	CLIP-seq
MIRT2569386	hsa-miR-4428	CLIP-seq
MIRT2569387	hsa-miR-4443	CLIP-seq
MIRT1142498	hsa-miR-4469	CLIP-seq
MIRT2569388	hsa-miR-4486	CLIP-seq
MIRT2569389	hsa-miR-450b-3p	CLIP-seq
MIRT2684826	hsa-miR-4510	CLIP-seq
MIRT2040516	hsa-miR-4514	CLIP-seq
MIRT2040517	hsa-miR-4518	CLIP-seq
MIRT2569390	hsa-miR-4534	CLIP-seq
MIRT2569391	hsa-miR-4633-3p	CLIP-seq
MIRT2569393	hsa-miR-4649-3p	CLIP-seq
MIRT2684827	hsa-miR-4650-3p	CLIP-seq
MIRT1551230	hsa-miR-4651	CLIP-seq
MIRT2569394	hsa-miR-4653-5p	CLIP-seq
MIRT2569395	hsa-miR-4654	CLIP-seq
MIRT1142499	hsa-miR-4659a-3p	CLIP-seq
MIRT1142500	hsa-miR-4659b-3p	CLIP-seq
MIRT1551231	hsa-miR-4664-5p	CLIP-seq
MIRT2569397	hsa-miR-4667-3p	CLIP-seq
MIRT2569398	hsa-miR-4668-5p	CLIP-seq
MIRT2569399	hsa-miR-4685-3p	CLIP-seq
MIRT2040519	hsa-miR-4692	CLIP-seq
MIRT2040520	hsa-miR-4695-3p	CLIP-seq
MIRT2569401	hsa-miR-4713-3p	CLIP-seq
MIRT2040521	hsa-miR-4713-5p	CLIP-seq
MIRT2453974	hsa-miR-4715-3p	CLIP-seq
MIRT2569402	hsa-miR-4723-3p	CLIP-seq
MIRT2040522	hsa-miR-4726-3p	CLIP-seq
MIRT1142504	hsa-miR-4727-5p	CLIP-seq
MIRT2684828	hsa-miR-4728-5p	CLIP-seq
MIRT2569403	hsa-miR-4729	CLIP-seq
MIRT2453975	hsa-miR-4735-5p	CLIP-seq
MIRT2684829	hsa-miR-4739	CLIP-seq
MIRT2040523	hsa-miR-4740-3p	CLIP-seq
MIRT2040524	hsa-miR-4742-5p	CLIP-seq
MIRT2684830	hsa-miR-4756-5p	CLIP-seq
MIRT2569404	hsa-miR-4769-5p	CLIP-seq
MIRT1142508	hsa-miR-4775	CLIP-seq
MIRT2569405	hsa-miR-4786-3p	CLIP-seq
MIRT1142509	hsa-miR-4797-5p	CLIP-seq
MIRT2569407	hsa-miR-485-5p	CLIP-seq
MIRT2569408	hsa-miR-489	CLIP-seq
MIRT1142510	hsa-miR-498	CLIP-seq
MIRT1142511	hsa-miR-5096	CLIP-seq
MIRT2569409	hsa-miR-516b	CLIP-seq
MIRT2569410	hsa-miR-518a-5p	CLIP-seq
MIRT2040526	hsa-miR-520f	CLIP-seq
MIRT2569411	hsa-miR-527	CLIP-seq
MIRT2569412	hsa-miR-550b	CLIP-seq
MIRT2569413	hsa-miR-581	CLIP-seq
MIRT2453976	hsa-miR-590-3p	CLIP-seq
MIRT1551233	hsa-miR-608	CLIP-seq
MIRT2569415	hsa-miR-612	CLIP-seq
MIRT2569416	hsa-miR-635	CLIP-seq
MIRT2569417	hsa-miR-637	CLIP-seq
MIRT2569418	hsa-miR-638	CLIP-seq
MIRT2569419	hsa-miR-642a	CLIP-seq
MIRT2569420	hsa-miR-650	CLIP-seq
MIRT2569421	hsa-miR-663b	CLIP-seq
MIRT2569422	hsa-miR-665	CLIP-seq
MIRT2569423	hsa-miR-708	CLIP-seq
MIRT2569424	hsa-miR-769-3p	CLIP-seq

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IEA
GO:0002009	Process	Morphogenesis of an epithelium	IEA
GO:0003143	Process	Embryonic heart tube morphogenesis	IEA
GO:0003143	Process	Embryonic heart tube morphogenesis	ISS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	21078624
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010468	Process	Regulation of gene expression	ISS
GO:0016020	Component	Membrane	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	ISS
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	ISS
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035108	Process	Limb morphogenesis	IMP	23063620
GO:0035904	Process	Aorta development	IEA
GO:0042074	Process	Cell migration involved in gastrulation	IMP	23063620
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	ISS
GO:0048598	Process	Embryonic morphogenesis	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	ISS
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0048842	Process	Positive regulation of axon extension involved in axon guidance	IEA
GO:0048842	Process	Positive regulation of axon extension involved in axon guidance	ISS
GO:0055113	Process	Epiboly involved in gastrulation with mouth forming second	IMP	23063620
GO:0060173	Process	Limb development	IEA
GO:0060971	Process	Embryonic heart tube left/right pattern formation	IEA
GO:0060971	Process	Embryonic heart tube left/right pattern formation	ISS
GO:0060972	Process	Left/right pattern formation	IEA
GO:0060972	Process	Left/right pattern formation	IMP	23063620
GO:0060976	Process	Coronary vasculature development	IEA
GO:0061371	Process	Determination of heart left/right asymmetry	IEA
GO:0061371	Process	Determination of heart left/right asymmetry	IEA
GO:0061371	Process	Determination of heart left/right asymmetry	IMP	23063620
GO:0061626	Process	Pharyngeal arch artery morphogenesis	IEA
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071907	Process	Determination of digestive tract left/right asymmetry	IEA
GO:0071907	Process	Determination of digestive tract left/right asymmetry	ISS
GO:0097094	Process	Craniofacial suture morphogenesis	IMP	23063620
GO:0097155	Process	Fasciculation of sensory neuron axon	IEA
GO:0097155	Process	Fasciculation of sensory neuron axon	ISS
GO:1990403	Process	Embryonic brain development	IEA

MIM	HGNC	e!Ensembl
604267	3233	ENSG00000105429

Q7Z7M0

Protein name

Multiple epidermal growth factor-like domains protein 8 (Multiple EGF-like domains protein 8) (Epidermal growth factor-like protein 4) (EGF-like protein 4)

Protein function

Acts as a negative regulator of hedgehog signaling.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00431	CUB	30 → 137	CUB domain	Domain
PF13418	Kelch_4	227 → 277		Repeat
PF01437	PSI	1005 → 1073	Plexin repeat	Family
PF12947	EGF_3	1078 → 1114	EGF domain	Domain
PF00053	Laminin_EGF	1163 → 1208	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1211 → 1262	Laminin EGF domain	Domain
PF13418	Kelch_4	1509 → 1564		Repeat
PF07645	EGF_CA	2179 → 2232	Calcium-binding EGF domain	Domain
PF00053	Laminin_EGF	2335 → 2378	Laminin EGF domain	Domain

Sequence

MALGKVLAMALVLALAVLGSLSPGARAGDCKGQRQVLREAPGFVTDGAGNYSVNGNCEWL
IEAPSPQHRILLDFLFLDTECTYDYLFVYDGDSPRGPLLASLSGSTRPPPIEASSGKMLL
HLFSDANYNLLGFNASFRFSLCPGGCQSHGQCQPPGVCACEPGWGGPDCGLQECSAYCGS
HGTCASPLGPCRCEPGFLGRACDLHLWENQGAGWWHNVSARDPAFSARIGAAGAFLSPPG
LLAVFGGQDLNNALGDLVLYNFSANTWESWDLSPAPAARHSHVAVAWAGSLVLMGGELAD
GSLTNDVWAFSPLGRGHWELLAPPASSSSGPPGLAGHAAALVDDVWLYVSGGRTPHDLFS
SGLFRFRLDSTSGGYWEQVIPAGGRPPAATGHSMVFHAPSRALLVHGGHRPSTARFSVRV
NSTELFHVDRHVWTTLKGRDGLQGPRERAFHTASVLGNYMVVYGGNVHTHYQEEKCYEDG
IFFYHLGCHQWVSGAELAPPGTPEGRAAPPSGRYSHVAAVLGGSVLLVAGGYSGRPRGDL
MAYKVPPFVFQAPAPDYHLDYCSMYTDHSVCSRDPECSWCQGACQAAPPPGTPLGACPAA
SCLGLGRLLGDCQACLAFSSPTAPPRGPGTLGWCVHNESCLPRPEQARCRGEQISGTVGW
WGPAPVFVTSLEACVTQSFLPGLHLLTFQQPPNTSQPDKVSIVRSTTITLTPSAETDVSL
VYRGFIYPMLPGGPGGPGAEDVAVWTRAQRLHVLARMARGPDTENMEEVGRWVAHQEKET
RRLQRPGSARLFPLPGRDHKYAVEIQGQLNGSAGPGHSELTLLWDRTGVPGGSEISFFFL
EPYRSSSCTSYSSCLGCLADQGCGWCLTSATCHLRQGGAHCGDDGAGGSLLVLVPTLCPL
CEEHRDCHACTQDPFCEWHQSTSRKGDAACSRRGRGRGALKSPEECPPLCSQRLTCEDCL
ANSSQCAWCQSTHTCFLFAAYLARYPHGGCRGWDDSVHSEPRCRSCDGFLTCHECLQSHE
CGWCGNEDNPTLGRCLQGDFSGPLGGGNCSLWVGEGLGLPVALPARWAYARCPDVDECRL
GLARCHPRATCLNTPLSYECHCQRGYQGDGISHCNRTCLEDCGHGVCSGPPDFTCVCDLG
WTSDLPPPTPAPGPPAPRCSRDCGCSFHSHCRKRGPGFCDECQDWTWGEHCERCRPGSFG
NATGSRGCRPCQCNGHGDPRRGHCDNLSGLCFCQDHTEGAHCQLCSPGYYGDPRAGGSCF
RECGGRALLTNVSSVALGSRRVGGLLPPGGGAARAGPGLSYCVWVVSATEELQPCAPGTL
CPPLTLTFSPDSSTPCTLSYVLAFDGFPRFLDTGVVQSDRSLIAAFCGQRRDRPLTVQAL
SGLLVLHWEANGSSSWGFNASVGSARCGSGGPGSCPVPQECVPQDGAAGAGLCRCPQGWA
GPHCRMALCPENCNAHTGAGTCNQSLGVCICAEGFGGPDCATKLDGGQLVWETLMDSRLS
ADTASRFLHRLGHTMVDGPDATLWMFGGLGLPQGLLGNLYRYSVSERRWTQMLAGAEDGG
PGPSPRSFHAAAYVPAGRGAMYLLGGLTAGGVTRDFWVLNLTTLQWRQEKAPQTVELPAV
AGHTLTARRGLSLLLVGGYSPENGFNQQLLEYQLATGTWVSGAQSGTPPTGLYGHSAVYH
EATDSLYVFGGFRFHVELAAPSPELYSLHCPDRTWSLLAPSQGAKRDRMRNVRGSSRGLG
QVPGEQPGSWGFREVRKKMALWAALAGTGGFLEEISPHLKEPRPRLFHASALLGDTMVVL
GGRSDPDEFSSDVLLYQVNCNAWLLPDLTRSASVGPPMEESVAHAVAAVGSRLYISGGFG
GVALGRLLALTLPPDPCRLLSSPEACNQSGACTWCHGACLSGDQAHRLGCGGSPCSPMPR
SPEECRRLRTCSECLARHPRTLQPGDGEASTPRCKWCTNCPEGACIGRNGSCTSENDCRI
NQREVFWAGNCSEAACGAADCEQCTREGKCMWTRQFKRTGETRRILSVQPTYDWTCFSHS
LLNVSPMPVESSPPLPCPTPCHLLPNCTSCLDSKGADGGWQHCVWSSSLQQCLSPSYLPL
RCMAGGCGRLLRGPESCSLGCAQATQCALCLRRPHCGWCAWGGQDGGGRCMEGGLSGPRD
GLTCGRPGASWAFLSCPPEDECANGHHDCNETQNCHDQPHGYECSCKTGYTMDNMTGLCR
PVCAQGCVNGSCVEPDHCRCHFGFVGRNCSTECRCNRHSECAGVGARDHCLLCRNHTKGS
HCEQCLPLFVGSAVGGGTCRPCHAFCRGNSHICISRKELQMSKGEPKKYSLDPEEIENWV
TEGPSEDEAVCVNCQNNSYGEKCESCLQGYFLLDGKCTKCQCNGHADTCNEQDGTGCPCQ
NNTETGTCQGSSPSDRRDCYKYQCAKCRESFHGSPLGGQQCYRLISVEQECCLDPTSQTN
CFHEPKRRALGPGRTVLFGVQPKFTNVDIRLTLDVTFGAVDLYVSTSYDTFVVRVAPDTG
VHTVHIQPPPAPPPPPPPADGGPRGAGDPGGAGASSGPGAPAEPRVREVWPRGLITYVTV
TEPSAVLVVRGVRDRLVITYPHEHHALKSSRFYLLLLGVGDPSGPGANGSADSQGLLFFR
QDQAHIDLFVFFSVFFSCFFLFLSLCVLLWKAKQALDQRQEQRRHLQEMTKMASRPFAKV
TVCFPPDPTAPASAWKPAGLPPPAFRRSEPFLAPLLLTGAGGPWGPMGGGCCPPAIPATT
AGLRAGPITLEPTEDGMAGVATLLLQLPGGPHAPNGACLGSALVTLRHRLHEYCGGGGGA
GGSGHGTGAGRKGLLSQDNLTSMSL

Sequence length

2845

Interactions

View interactions

	KEGG
	Hedgehog signaling pathway

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Carpenter syndrome	Likely pathogenic	rs1224632697, rs1298106714, rs2514272812	RCV001582407 RCV002470027 RCV003226720	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniosynostosis syndrome	Likely pathogenic	rs775004286	RCV001509552	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MEGF8-related Carpenter syndrome	Pathogenic; Likely pathogenic	rs1164577355, rs775004286, rs1222471099, rs761406257, rs2514301445, rs2514272936, rs2514309368, rs758179285, rs1568566883, rs2147506322, rs779375840, rs2514360725, rs2514360670, rs2514360779, rs397515427 View all (6 more)	RCV003446786 RCV003446788 RCV001990032 RCV002280256 RCV002601287 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polydactyly	Likely pathogenic	rs775004286	RCV001509552	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPENTER SYNDROME 2	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEGF8-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (62)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Accessory nipple	Accessory Nipple	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephalopolysyndactyly type 2	Carpenter syndrome	BEFREE	23063620, 29884872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephalopolysyndactyly type 2	Carpenter syndrome	ORPHANET_DG	23063620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephalopolysyndactyly type 2	Carpenter syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephalopolysyndactyly type 2	Carpenter syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	20332323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	14991897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27965399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carpenter syndrome	Carpenter Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CARPENTER SYNDROME 1	Carpenter Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CARPENTER SYNDROME 2	Carpenter Syndrome	UNIPROT_DG	23063620		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPENTER SYNDROME 2	Carpenter Syndrome	GENOMICS_ENGLAND_DG	23063620		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPENTER SYNDROME 2	Carpenter Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Kidney Diseases	Kidney Disease	BEFREE	28867194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31019652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18435490, 19924303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	18435490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	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 Heart Defects	Congenital heart defects	BEFREE	23063620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29444778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	31019652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	31708966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	27965399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	20332323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	30662608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28665768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22512980, 30034941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27965399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23483240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23483240, 30400135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14991897, 18435490, 22512980, 30662608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	27965399		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	27965399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24853996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	23063620		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polysplenia	Polysplenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	27965399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25993660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23483240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

MEGF8 (multiple EGF like domains 8)