FRAS1 (Fraser extracellular matrix complex subunit 1)

Gene

• Entrez ID: 80144
• Gene name: Fraser extracellular matrix complex subunit 1
• Gene symbol: FRAS1
• Synonyms (NCBI Gene): FRASRS1
• Chromosome: 4
• Chromosome location: 4q21.21
• Summary: This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1872267	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs56291926	G>A,T	Conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant, genic downstream transcript variant
rs61729366	G>A	Benign-likely-benign, uncertain-significance, risk-factor, benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs111554790	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs120074156	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs120074157	C>G,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, stop gained
rs120074158	C>T	Pathogenic	Stop gained, coding sequence variant
rs120074159	C>G	Pathogenic	Stop gained, coding sequence variant
rs144065807	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148663672	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs183687186	G>A,C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs189612722	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs200053639	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs372184784	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs372359356	G>A	Risk-factor	Coding sequence variant, missense variant
rs374045395	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs377046630	C>T	Pathogenic	Coding sequence variant, stop gained
rs377333036	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs377369857	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs574631014	G>A	Likely-pathogenic	Splice donor variant
rs730882179	->GG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs730882180	G>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs745597204	T>A,C	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, synonymous variant, genic downstream transcript variant
rs755750961	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs757311669	C>G,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs760212654	G>A,T	Pathogenic	Intron variant
rs773457837	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs775517752	C>T	Pathogenic	Coding sequence variant, stop gained
rs786205570	T>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs794727195	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727365	G>A,T	Pathogenic	Splice donor variant
rs797044696	->T	Pathogenic	Frameshift variant, coding sequence variant
rs876661304	GT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs878853009	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886037765	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs886037766	AGGTACTACTTCCTGTAAAAC>T	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs921444831	A>C,T	Risk-factor	Coding sequence variant, missense variant, genic downstream transcript variant
rs1006839535	C>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1131691462	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691572	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1233923207	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1325190118	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1432850828	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553960137	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1560433104	->T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1578279277	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1578291638	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1578380159	AACA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022324	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT1004046	hsa-miR-1256	CLIP-seq
MIRT1004047	hsa-miR-1278	CLIP-seq
MIRT1004048	hsa-miR-193a-3p	CLIP-seq
MIRT1004049	hsa-miR-193b	CLIP-seq
MIRT1004050	hsa-miR-19a	CLIP-seq
MIRT1004051	hsa-miR-19b	CLIP-seq
MIRT1004052	hsa-miR-3123	CLIP-seq
MIRT1004053	hsa-miR-342-5p	CLIP-seq
MIRT1004054	hsa-miR-3591-5p	CLIP-seq
MIRT1004055	hsa-miR-3714	CLIP-seq
MIRT1004056	hsa-miR-3925-5p	CLIP-seq
MIRT1004057	hsa-miR-4421	CLIP-seq
MIRT1004058	hsa-miR-4432	CLIP-seq
MIRT1004059	hsa-miR-4460	CLIP-seq
MIRT1004060	hsa-miR-4643	CLIP-seq
MIRT1004061	hsa-miR-4651	CLIP-seq
MIRT1004062	hsa-miR-466	CLIP-seq
MIRT1004063	hsa-miR-4664-5p	CLIP-seq
MIRT1004064	hsa-miR-4720-5p	CLIP-seq
MIRT1004065	hsa-miR-4727-3p	CLIP-seq
MIRT1004066	hsa-miR-4789-3p	CLIP-seq
MIRT1004067	hsa-miR-4799-3p	CLIP-seq
MIRT1004068	hsa-miR-487a	CLIP-seq
MIRT1004069	hsa-miR-488	CLIP-seq
MIRT1004070	hsa-miR-499-5p	CLIP-seq
MIRT1004071	hsa-miR-548an	CLIP-seq
MIRT1004072	hsa-miR-608	CLIP-seq
MIRT1004073	hsa-miR-892b	CLIP-seq
MIRT1997587	hsa-miR-1827	CLIP-seq
MIRT1997588	hsa-miR-200b	CLIP-seq
MIRT1997589	hsa-miR-200c	CLIP-seq
MIRT1997590	hsa-miR-217	CLIP-seq
MIRT1997591	hsa-miR-2276	CLIP-seq
MIRT1997592	hsa-miR-3117-5p	CLIP-seq
MIRT1997593	hsa-miR-3124-3p	CLIP-seq
MIRT1997594	hsa-miR-3158-3p	CLIP-seq
MIRT1997595	hsa-miR-3612	CLIP-seq
MIRT1997596	hsa-miR-3941	CLIP-seq
MIRT1997597	hsa-miR-4264	CLIP-seq
MIRT1997598	hsa-miR-429	CLIP-seq
MIRT1997599	hsa-miR-4418	CLIP-seq
MIRT1004057	hsa-miR-4421	CLIP-seq
MIRT1004062	hsa-miR-466	CLIP-seq
MIRT1997600	hsa-miR-4672	CLIP-seq
MIRT1997601	hsa-miR-4708-3p	CLIP-seq
MIRT1997602	hsa-miR-4797-3p	CLIP-seq
MIRT1997603	hsa-miR-509-3-5p	CLIP-seq
MIRT1997604	hsa-miR-509-5p	CLIP-seq
MIRT1997605	hsa-miR-520d-5p	CLIP-seq
MIRT1997606	hsa-miR-524-5p	CLIP-seq
MIRT1997607	hsa-miR-636	CLIP-seq
MIRT1997608	hsa-miR-650	CLIP-seq
MIRT1997609	hsa-miR-935	CLIP-seq
MIRT1004050	hsa-miR-19a	CLIP-seq
MIRT1004051	hsa-miR-19b	CLIP-seq
MIRT2231255	hsa-miR-214	CLIP-seq
MIRT2231256	hsa-miR-3064-3p	CLIP-seq
MIRT2231257	hsa-miR-338-3p	CLIP-seq
MIRT2231258	hsa-miR-3619-5p	CLIP-seq
MIRT2231259	hsa-miR-377	CLIP-seq
MIRT1997596	hsa-miR-3941	CLIP-seq
MIRT1997597	hsa-miR-4264	CLIP-seq
MIRT2231260	hsa-miR-4291	CLIP-seq
MIRT1004062	hsa-miR-466	CLIP-seq
MIRT1997600	hsa-miR-4672	CLIP-seq
MIRT2231261	hsa-miR-4715-3p	CLIP-seq
MIRT2231262	hsa-miR-4764-5p	CLIP-seq
MIRT2231263	hsa-miR-623	CLIP-seq
MIRT2231264	hsa-miR-676	CLIP-seq
MIRT2231265	hsa-miR-761	CLIP-seq
MIRT2231266	hsa-miR-922	CLIP-seq
MIRT1997609	hsa-miR-935	CLIP-seq
MIRT2465332	hsa-miR-3936	CLIP-seq
MIRT2465333	hsa-miR-499-3p	CLIP-seq
MIRT2465334	hsa-miR-499a-3p	CLIP-seq
MIRT2535195	hsa-miR-1206	CLIP-seq
MIRT2535196	hsa-miR-1208	CLIP-seq
MIRT2535197	hsa-miR-122	CLIP-seq
MIRT2535198	hsa-miR-1224-3p	CLIP-seq
MIRT2535199	hsa-miR-1236	CLIP-seq
MIRT2535200	hsa-miR-124	CLIP-seq
MIRT2535201	hsa-miR-1260	CLIP-seq
MIRT2535202	hsa-miR-1260b	CLIP-seq
MIRT2535203	hsa-miR-1267	CLIP-seq
MIRT2535204	hsa-miR-1280	CLIP-seq
MIRT2535205	hsa-miR-1298	CLIP-seq
MIRT2535206	hsa-miR-1299	CLIP-seq
MIRT2535207	hsa-miR-1303	CLIP-seq
MIRT2535208	hsa-miR-188-3p	CLIP-seq
MIRT1004050	hsa-miR-19a	CLIP-seq
MIRT1004051	hsa-miR-19b	CLIP-seq
MIRT1997588	hsa-miR-200b	CLIP-seq
MIRT1997589	hsa-miR-200c	CLIP-seq
MIRT2535209	hsa-miR-204	CLIP-seq
MIRT2535210	hsa-miR-2054	CLIP-seq
MIRT2535211	hsa-miR-211	CLIP-seq
MIRT2535212	hsa-miR-2115	CLIP-seq
MIRT2231255	hsa-miR-214	CLIP-seq
MIRT2535213	hsa-miR-24	CLIP-seq
MIRT2535214	hsa-miR-28-5p	CLIP-seq
MIRT2535215	hsa-miR-299-3p	CLIP-seq
MIRT2535216	hsa-miR-3065-5p	CLIP-seq
MIRT2535217	hsa-miR-3117-3p	CLIP-seq
MIRT1997592	hsa-miR-3117-5p	CLIP-seq
MIRT2535218	hsa-miR-3139	CLIP-seq
MIRT2535219	hsa-miR-3156-3p	CLIP-seq
MIRT2535220	hsa-miR-3170	CLIP-seq
MIRT2535221	hsa-miR-3179	CLIP-seq
MIRT2535222	hsa-miR-3185	CLIP-seq
MIRT2535223	hsa-miR-3194-3p	CLIP-seq
MIRT2535224	hsa-miR-3202	CLIP-seq
MIRT2535225	hsa-miR-326	CLIP-seq
MIRT2535226	hsa-miR-330-5p	CLIP-seq
MIRT2535227	hsa-miR-337-3p	CLIP-seq
MIRT1004053	hsa-miR-342-5p	CLIP-seq
MIRT2535228	hsa-miR-34c-3p	CLIP-seq
MIRT2535229	hsa-miR-3614-5p	CLIP-seq
MIRT2231258	hsa-miR-3619-5p	CLIP-seq
MIRT2535230	hsa-miR-3646	CLIP-seq
MIRT2535231	hsa-miR-3664-5p	CLIP-seq
MIRT2535232	hsa-miR-3672	CLIP-seq
MIRT2465332	hsa-miR-3936	CLIP-seq
MIRT1997596	hsa-miR-3941	CLIP-seq
MIRT2535233	hsa-miR-421	CLIP-seq
MIRT2535234	hsa-miR-4272	CLIP-seq
MIRT2535235	hsa-miR-4284	CLIP-seq
MIRT1997598	hsa-miR-429	CLIP-seq
MIRT2231260	hsa-miR-4291	CLIP-seq
MIRT2535236	hsa-miR-4292	CLIP-seq
MIRT2535237	hsa-miR-4308	CLIP-seq
MIRT2535238	hsa-miR-432	CLIP-seq
MIRT2535239	hsa-miR-4427	CLIP-seq
MIRT1004058	hsa-miR-4432	CLIP-seq
MIRT2535240	hsa-miR-4433	CLIP-seq
MIRT2535241	hsa-miR-4446-5p	CLIP-seq
MIRT2535242	hsa-miR-4455	CLIP-seq
MIRT2535243	hsa-miR-4484	CLIP-seq
MIRT2535244	hsa-miR-4491	CLIP-seq
MIRT2535245	hsa-miR-4499	CLIP-seq
MIRT2535246	hsa-miR-4533	CLIP-seq
MIRT1004061	hsa-miR-4651	CLIP-seq
MIRT2535247	hsa-miR-4657	CLIP-seq
MIRT1004062	hsa-miR-466	CLIP-seq
MIRT1004063	hsa-miR-4664-5p	CLIP-seq
MIRT2535248	hsa-miR-4666-5p	CLIP-seq
MIRT2535249	hsa-miR-4667-5p	CLIP-seq
MIRT1997600	hsa-miR-4672	CLIP-seq
MIRT2535250	hsa-miR-4686	CLIP-seq
MIRT2535251	hsa-miR-4696	CLIP-seq
MIRT2535252	hsa-miR-4700-5p	CLIP-seq
MIRT1997601	hsa-miR-4708-3p	CLIP-seq
MIRT2535253	hsa-miR-4709-3p	CLIP-seq
MIRT2535254	hsa-miR-4714-5p	CLIP-seq
MIRT2231261	hsa-miR-4715-3p	CLIP-seq
MIRT2535255	hsa-miR-4719	CLIP-seq
MIRT2535256	hsa-miR-4755-5p	CLIP-seq
MIRT2535257	hsa-miR-4761-3p	CLIP-seq
MIRT2535258	hsa-miR-4782-5p	CLIP-seq
MIRT1004068	hsa-miR-487a	CLIP-seq
MIRT1004069	hsa-miR-488	CLIP-seq
MIRT2535259	hsa-miR-494	CLIP-seq
MIRT2535260	hsa-miR-495	CLIP-seq
MIRT2535261	hsa-miR-498	CLIP-seq
MIRT2465333	hsa-miR-499-3p	CLIP-seq
MIRT1004070	hsa-miR-499-5p	CLIP-seq
MIRT2465334	hsa-miR-499a-3p	CLIP-seq
MIRT2535262	hsa-miR-506	CLIP-seq
MIRT2535263	hsa-miR-516a-3p	CLIP-seq
MIRT2535264	hsa-miR-516b	CLIP-seq
MIRT2535265	hsa-miR-518a-3p	CLIP-seq
MIRT2535266	hsa-miR-518b	CLIP-seq
MIRT2535267	hsa-miR-518c	CLIP-seq
MIRT2535268	hsa-miR-518d-3p	CLIP-seq
MIRT2535269	hsa-miR-518f	CLIP-seq
MIRT1997605	hsa-miR-520d-5p	CLIP-seq
MIRT2535270	hsa-miR-520f	CLIP-seq
MIRT1997606	hsa-miR-524-5p	CLIP-seq
MIRT2535271	hsa-miR-532-5p	CLIP-seq
MIRT2535272	hsa-miR-544	CLIP-seq
MIRT1004072	hsa-miR-608	CLIP-seq
MIRT2231263	hsa-miR-623	CLIP-seq
MIRT1997607	hsa-miR-636	CLIP-seq
MIRT2535273	hsa-miR-637	CLIP-seq
MIRT2535274	hsa-miR-653	CLIP-seq
MIRT2535275	hsa-miR-664	CLIP-seq
MIRT2231264	hsa-miR-676	CLIP-seq
MIRT2535276	hsa-miR-708	CLIP-seq
MIRT2231265	hsa-miR-761	CLIP-seq
MIRT2535277	hsa-miR-767-3p	CLIP-seq
MIRT2535278	hsa-miR-874	CLIP-seq
MIRT2535279	hsa-miR-890	CLIP-seq
MIRT2231266	hsa-miR-922	CLIP-seq
MIRT1997609	hsa-miR-935	CLIP-seq
MIRT2681174	hsa-miR-1179	CLIP-seq
MIRT2535196	hsa-miR-1208	CLIP-seq
MIRT2535197	hsa-miR-122	CLIP-seq
MIRT2535198	hsa-miR-1224-3p	CLIP-seq
MIRT2681175	hsa-miR-1229	CLIP-seq
MIRT2535199	hsa-miR-1236	CLIP-seq
MIRT2681176	hsa-miR-1237	CLIP-seq
MIRT2535200	hsa-miR-124	CLIP-seq
MIRT2681177	hsa-miR-1248	CLIP-seq
MIRT2681178	hsa-miR-1251	CLIP-seq
MIRT2535201	hsa-miR-1260	CLIP-seq
MIRT2535202	hsa-miR-1260b	CLIP-seq
MIRT2535203	hsa-miR-1267	CLIP-seq
MIRT2535204	hsa-miR-1280	CLIP-seq
MIRT2681179	hsa-miR-1283	CLIP-seq
MIRT2535205	hsa-miR-1298	CLIP-seq
MIRT2535206	hsa-miR-1299	CLIP-seq
MIRT2535208	hsa-miR-188-3p	CLIP-seq
MIRT2681180	hsa-miR-1976	CLIP-seq
MIRT1004050	hsa-miR-19a	CLIP-seq
MIRT1004051	hsa-miR-19b	CLIP-seq
MIRT2535212	hsa-miR-2115	CLIP-seq
MIRT2231255	hsa-miR-214	CLIP-seq
MIRT2535215	hsa-miR-299-3p	CLIP-seq
MIRT2535216	hsa-miR-3065-5p	CLIP-seq
MIRT2681181	hsa-miR-31	CLIP-seq
MIRT1997592	hsa-miR-3117-5p	CLIP-seq
MIRT2535219	hsa-miR-3156-3p	CLIP-seq
MIRT2535221	hsa-miR-3179	CLIP-seq
MIRT2535222	hsa-miR-3185	CLIP-seq
MIRT2535223	hsa-miR-3194-3p	CLIP-seq
MIRT2535224	hsa-miR-3202	CLIP-seq
MIRT2535227	hsa-miR-337-3p	CLIP-seq
MIRT1004053	hsa-miR-342-5p	CLIP-seq
MIRT2535228	hsa-miR-34c-3p	CLIP-seq
MIRT2535229	hsa-miR-3614-5p	CLIP-seq
MIRT2231258	hsa-miR-3619-5p	CLIP-seq
MIRT2535232	hsa-miR-3672	CLIP-seq
MIRT2681182	hsa-miR-375	CLIP-seq
MIRT2681183	hsa-miR-3926	CLIP-seq
MIRT2465332	hsa-miR-3936	CLIP-seq
MIRT1997596	hsa-miR-3941	CLIP-seq
MIRT2535233	hsa-miR-421	CLIP-seq
MIRT2681184	hsa-miR-4265	CLIP-seq
MIRT2535234	hsa-miR-4272	CLIP-seq
MIRT2231260	hsa-miR-4291	CLIP-seq
MIRT2535236	hsa-miR-4292	CLIP-seq
MIRT2681185	hsa-miR-4296	CLIP-seq
MIRT2535237	hsa-miR-4308	CLIP-seq
MIRT2535238	hsa-miR-432	CLIP-seq
MIRT2681186	hsa-miR-4322	CLIP-seq
MIRT2681187	hsa-miR-4326	CLIP-seq
MIRT2681188	hsa-miR-4330	CLIP-seq
MIRT2681189	hsa-miR-4417	CLIP-seq
MIRT2535239	hsa-miR-4427	CLIP-seq
MIRT1004058	hsa-miR-4432	CLIP-seq
MIRT2535242	hsa-miR-4455	CLIP-seq
MIRT2535243	hsa-miR-4484	CLIP-seq
MIRT2535244	hsa-miR-4491	CLIP-seq
MIRT2681190	hsa-miR-4493	CLIP-seq
MIRT2535245	hsa-miR-4499	CLIP-seq
MIRT2681191	hsa-miR-4506	CLIP-seq
MIRT2535246	hsa-miR-4533	CLIP-seq
MIRT2681192	hsa-miR-4635	CLIP-seq
MIRT2681193	hsa-miR-4639-3p	CLIP-seq
MIRT2681194	hsa-miR-4640-5p	CLIP-seq
MIRT1004061	hsa-miR-4651	CLIP-seq
MIRT2535247	hsa-miR-4657	CLIP-seq
MIRT1004062	hsa-miR-466	CLIP-seq
MIRT1004063	hsa-miR-4664-5p	CLIP-seq
MIRT2535248	hsa-miR-4666-5p	CLIP-seq
MIRT1997600	hsa-miR-4672	CLIP-seq
MIRT2681195	hsa-miR-4693-3p	CLIP-seq
MIRT2681196	hsa-miR-4694-3p	CLIP-seq
MIRT2535251	hsa-miR-4696	CLIP-seq
MIRT1997601	hsa-miR-4708-3p	CLIP-seq
MIRT2535253	hsa-miR-4709-3p	CLIP-seq
MIRT2231261	hsa-miR-4715-3p	CLIP-seq
MIRT2681197	hsa-miR-4726-5p	CLIP-seq
MIRT2681198	hsa-miR-4760-5p	CLIP-seq
MIRT2535257	hsa-miR-4761-3p	CLIP-seq
MIRT2535258	hsa-miR-4782-5p	CLIP-seq
MIRT2681199	hsa-miR-4799-5p	CLIP-seq
MIRT1004068	hsa-miR-487a	CLIP-seq
MIRT1004069	hsa-miR-488	CLIP-seq
MIRT2535259	hsa-miR-494	CLIP-seq
MIRT2535260	hsa-miR-495	CLIP-seq
MIRT1004070	hsa-miR-499-5p	CLIP-seq
MIRT2535262	hsa-miR-506	CLIP-seq
MIRT2535263	hsa-miR-516a-3p	CLIP-seq
MIRT2535264	hsa-miR-516b	CLIP-seq
MIRT1997605	hsa-miR-520d-5p	CLIP-seq
MIRT2535270	hsa-miR-520f	CLIP-seq
MIRT1997606	hsa-miR-524-5p	CLIP-seq
MIRT2535272	hsa-miR-544	CLIP-seq
MIRT2681200	hsa-miR-548c-3p	CLIP-seq
MIRT1004072	hsa-miR-608	CLIP-seq
MIRT2681201	hsa-miR-622	CLIP-seq
MIRT1997607	hsa-miR-636	CLIP-seq
MIRT2535274	hsa-miR-653	CLIP-seq
MIRT2535275	hsa-miR-664	CLIP-seq
MIRT2231264	hsa-miR-676	CLIP-seq
MIRT2231265	hsa-miR-761	CLIP-seq
MIRT2535277	hsa-miR-767-3p	CLIP-seq
MIRT2535279	hsa-miR-890	CLIP-seq
MIRT2231266	hsa-miR-922	CLIP-seq
MIRT1997609	hsa-miR-935	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002009	Process	Morphogenesis of an epithelium	IEA
GO:0003338	Process	Metanephros morphogenesis	IEA
GO:0005201	Function	Extracellular matrix structural constituent	ISS
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0007154	Process	Cell communication	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0031012	Component	Extracellular matrix	ISS
GO:0043588	Process	Skin development	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048731	Process	System development	IEA
GO:0060021	Process	Roof of mouth development	IEA

Other IDs

• MIM: 607830
• HGNC: 19185
• e!Ensembl: ENSG00000138759

Protein

• UniProt ID: Q86XX4
• Protein name: Extracellular matrix organizing protein FRAS1 (Fraser syndrome 1 protein)
• Protein function: Involved in extracellular matrix organization (By similarity). Required for the regulation of epidermal-basement membrane adhesion responsible for proper organogenesis during embryonic development (By similarity). Involved in brain organization
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00093	VWC	95 → 152	von Willebrand factor type C domain	Family
  PF00093	VWC	159 → 216	von Willebrand factor type C domain	Family
  PF00093	VWC	221 → 278	von Willebrand factor type C domain	Family
  PF00093	VWC	285 → 342	von Willebrand factor type C domain	Family
  PF16184	Cadherin_3	1099 → 1199		Domain
  PF16184	Cadherin_3	1203 → 1310		Domain
  PF16184	Cadherin_3	1313 → 1439		Domain
  PF16184	Cadherin_3	1446 → 1574		Domain
  PF16184	Cadherin_3	1577 → 1691		Domain
  PF16184	Cadherin_3	1694 → 1812		Domain
  PF16184	Cadherin_3	1816 → 1938		Domain
  PF16184	Cadherin_3	1941 → 2059		Domain
  PF16184	Cadherin_3	2067 → 2179		Domain
  PF16184	Cadherin_3	2184 → 2293		Domain
  PF16184	Cadherin_3	2295 → 2406		Domain
  PF16184	Cadherin_3	2422 → 2538		Domain
  PF03160	Calx-beta	2547 → 2646	Calx-beta domain	Domain
  PF03160	Calx-beta	2659 → 2770	Calx-beta domain	Domain
  PF03160	Calx-beta	2784 → 2890	Calx-beta domain	Domain
  PF03160	Calx-beta	2903 → 3007	Calx-beta domain	Domain
  PF03160	Calx-beta	3025 → 3129	Calx-beta domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in many adult tissues, with highest levels in kidney, pancreas and thalamus. Relatively high expression was also detected in fetal kidney and heart. {ECO:0000269|PubMed:12766769}.
• Sequence:

  MGVLKVWLGLALALAEFAVLPHHSEGACVYQDSLLADATIWKPDSCQSCRCHGDIVICKP
  AVCRNPQCAFEKGEVLQIAANQCCPECVLRTPGSCHHEKKIHEHGTEWASSPCSVCSCNH
  GEVRCTPQPCPPLSCGHQELAFIPEGSCCPVCVGLGKPCSYEGHVFQDGEDWRLSRCAKC
  LCRNGVAQCFTAQCQPLFCNQDETVVRVPGKCCPQCSARSCSAAGQVYEHGEQWSENACT
  TCICDRGEVRCHKQACLPLRCGKGQSRARRHGQCCEECVSPAGSCSYDGVVRYQDEMWKG
  SACEFCMCDHGQVTCQTGECAKVECARDEELIHLDGKCCPECISRNGYCVYEETGEFMSS
  NASEVKRIPEGEKWEDGPCKVCECRGAQVTCYEPSCPPCPVGTLALEVKGQCCPDCTSVH
  CHPDCLTCSQSPDHCDLCQDPTKLLQNGWCVHSCGLGFYQAGSLCLACQPQCSTCTSGLE
  CSSCQPPLLMRHGQCVPTCGDGFYQDRHSCAVCHESCAGCWGPTEKHCLACRDPLHVLRD
  GGCESSCGKGFYNRQGTCSACDQSCDSCGPSSPRCLTCTEKTVLHDGKCMSECPGGYYAD
  ATGRCKVCHNSCASCSGPTPSHCTACSPPKALRQGHCLPRCGEGFYSDHGVCKACHSSCL
  ACMGPAPSHCTGCKKPEEGLQVEQLSDVGIPSGECLAQCRAHFYLESTGICEACHQSCFR
  CAGKSPHNCTDCGPSHVLLDGQCLSQCPDGYFHQEGSCTECHPTCRQCHGPLESDCISCY
  PHISLTNGNCRTSCREEQFLNLVGYCADCHHLCQHCAADLHNTGSICLRCQNAHYLLLGD
  HCVPDCPSGYYAERGACKKCHSSCRTCQGRGPFSCSSCDTNLVLSHTGTCSTTCFPGHYL
  DDNHVCQPCNTHCGSCDSQASCTSCRDPNKVLLFGECQYESCAPQYYLDFSTNTCKECDW
  SCSACSGPLKTDCLQCMDGYVLQDGACVEQCLSSFYQDSGLCKNCDSYCLQCQGPHECTR
  CKGPFLLLEAQCVQECGKGYFADHAKHKCTACPQGCLQCSHRDRCHLCDHGFFLKSGLCV
  YNCVPGFSVHTSNETCSGKIHTPSLHVNGSLILPIGSIKPLDFSLLNVQDQEGRVEDLLF
  HVVSTPTNGQLVLSRNGKEVQLDKAGRFSWKDVNEKKVRFVHSKEKLRKGYLFLKISDQQ
  FFSEPQLINIQAFSTQAPYVLRNEVLHISRGERATITTQMLDIRDDDNPQDVVIEIIDPP
  LHGQLLQTLQSPATPIYQFQLDELSRGLLHYAHDGSDSTSDVAVLQANDGHSFHNILFQV
  KTVPQNDRGLQLVANSMVWVPEGGMLQITNRILQAEAPGASAEEIIYKITQDYPQFGEVV
  LLVNMPADSPADEGQHLPDGRTATPTSTFTQQDINEGIVWYRHSGAPAQSDSFRFEVSSA
  SNAQTRLESHMFNIAILPQTPEAPKVSLEASLHMTAREDGLTVIQPHSLSFINSEKPSGK
  IVYNITLPLHPNQGIIEHRDHPHSPIRYFTQEDINQGKVMYRPPPAAPHLQELMAFSFAG
  LPESVKFHFTVSDGEHTSPEMVLTIHLLPSDQQLPVFQVTAPRLAVSPGGSTSVGLQVVV
  RDAETAPKELFFELRRPPQHGVLLKHTAEFRRPMATGDTFTYEDVEKNALQYIHDGSSTR
  EDSMEISVTDGLTVTMLEVRVEVSLSEDRGPRLAAGSSLSITVASKSTAIITRSHLAYVD
  DSSPDPEIWIQLNYLPSYGTLLRISGSEVEELSEVSNFTMEDINNKKIRYSAVFETDGHL
  VTDSFYFSVSDMDHNHLDNQIFTIMITPAENPPPVIAFADLITVDEGGRAPLSFHHFFAT
  DDDDNLQRDAIIKLSALPKYGCIENTGTGDRFGPETASDLEASFPIQDVLENYIYYFQSV
  HESIEPTHDIFSFYVSDGTSRSEIHSINITIERKNDEPPRMTLQPLRVQLSSGVVISNSS
  LSLQDLDTPDNELIFVLTKKPDHGHVLWRQTASEPLENGRVLVQGSTFTYQDILAGLVGY
  VPSVPGMVVDEFQFSLTDGLHVDTGRMKIYTELPASDTPHLAINQGLQLSAGSVARITEQ
  HLKVTDIDSDDHQVMYIMKEDPGAGRLQMMKHGNLEQISIKGPIRSFTQADISQGQPEYS
  HGTGEPGGSFAFKFDVVDGEGNRLIDKSFSISISEDKSPPVITTNKGLVLDENSVKKITT
  LQLSATDQDSGPTELIYRITRQPQLGHLEHAASPGIQISSFTQADLTSRNVQYVHSSEAE
  KHSDAFSFTLSDGVSEVTQTFHITLHPVDDSLPVVQNLGMRVQEGMRKTITEFELKAVDA
  DTEAESVTFTIVQPPRHGTIERTSNGQHFHLTSTFTMKDIYQNRVSYSHDGSNSLKDRFT
  FTVSDGTNPFFIIEEGGKEIMTAAPQPFRVDILPVDDGTPRIVTNLGLQWLEYMDGKATN
  LITKKELLTMDPDTEDAQLVYEITTGPKHGFVENKLQPGRAAATFTQEDVNLGLIRYVLH
  KEKIREMMDSFQFLVKDSKPNVVSDNVFHIQWSLISFKYTSYNVSEKAGSVSVTVQRTGN
  LNQYAIVLCRTEQGTASSSSQPGQQDYVEYAGQVQFDEREDTKSCTIVINDDDVFENVES
  FTVELSMPAYALLGEFTQAKVIINDTEDEPTLEFDKKIYWVNESAGFLFAPIERKGDASS
  IVSAICYTVPKSAMGSLFYALESGSDFKSRGMSAASRVIFGPGVTMSTCDVMLIDDSEYE
  EEEEFEIALADASDNARIGRVATAKVLISGPNDASTVSLGNTAFTVSEDAGTVKIPVIRH
  GTDLSTFASVWCATRPSDPASATPGVDYVPSSRKVEFGPGVIEQYCTLTILDDTQYPVIE
  GLETFVVFLSSAQGAELTKPFQAVIAINDTFQDVPSMQFAKDLLLVKEKEGVLHVPITRS
  GDLSYESSVRCYTQSHSAQVMEDFEERQNADSSRITFLKGDKVKNCTVYIHDDSMFEPEE
  QFRVYLGLPLGNHWSGARIGKNNMATITISNDEDAPTIEFEEAAYQVREPAGPDAIAILN
  IKVIRRGDQNRTSKVRCSTRDGSAQSGVDYYPKSRVLKFSPGVDHIFFKVEILSNEDREW
  HESFSLVLGPDDPVEAVLGDVTTATVTILDQEAAGSLILPAPPIVVTLADYDHVEEVTKE
  GVKKSPSPGYPLVCVTPCDPHFPRYAVMKERCSEAGINQTSVQFSWEVAAPTDGNGARSP
  FETITDNTPFTSVNHMVLDSIYFSRRFHVRCVAKAVDKVGHVGTPLRSNIVTIGTDSAIC
  HTPVVAGTSRGFQAQSFIATLKYLDVKHKEHPNRIHISVQIPHQDGMLPLISTMPLHNLH
  FLLSESIYRHQHVCSNLVTTYDLRGLAEAGFLDDVVYDSTALGPGYDRPFQFDPSVREPK
  TIQLYKHLNLKSCVWTFDAYYDMTELIDVCGGSVTADFQVRDSAQSFLTVHVPLYVSYIY
  VTAPRGWASLEHHTEMEFSFFYDTVLWRTGIQTDSVLSARLQIIRIYIREDGRLVIEFKT
  HAKFRGQFVMEHHTLPEVKSFVLTPDHLGGIEFDLQLLWSAQTFDSPHQLWRATSSYNRK
  DYSGEYTIYLIPCTVQPTQPWVDPGEKPLACTAHAPERFLIPIAFQQTNRPVPVVYSLNT
  EFQLCNNEKVFLMDPNTSDMSLAEMDYKGAFSKGQILYGRVLWNPEQNLNSAYKLQLEKV
  YLCTGKDGYVPFFDPTGTIYNEGPQYGCIQPNKHLKHRFLLLDRNQPEVTDKYFHDVPFE
  AHFASELPDFHVVSNMPGVDGFTLKVDALYKVEAGHQWYLQVIYIIGPDTISGPRVQRSL
  TAPLRRNRRDLVEPDGQLILDDSLIYDNEGDQVKNGTNMKSLNLEMQELAVAASLSQTGA
  SIGSALAAIMLLLLVFLVACFINRKCQKQRKKKPAEDILEEYPLNTKVEVPKRHPDRVEK
  NVNRHYCTVRNVNILSEPEAAYTFKGAKVKRLNLEVRVHNNLQDGTEV

• Sequence length: 4008

Pathways

KEGG:

ECM-receptor interaction

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
Congenital anomaly of kidney and urinary tract	Likely pathogenic; Pathogenic	rs773232259, rs745597204, rs200282443	RCV001849615 RCV001328302 RCV001328204	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cryptophthalmos syndrome	Likely pathogenic; Pathogenic	rs753831692	RCV005367737	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FRAS1-related disorder	Pathogenic; Likely pathogenic	rs377046630, rs902819798, rs2475851664, rs2477269322, rs1727393873, rs751167632, rs1718846418, rs776570778	RCV003407662 RCV003418573 RCV003402529 RCV003416818 RCV003419024 RCV003420761 RCV004723366 RCV004741674	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fraser syndrome 1	Likely pathogenic; Pathogenic	rs753263924, rs756005814, rs1731436153, rs1578330963, rs1460031293, rs1560604726, rs2109847651, rs1263546070, rs776789412, rs201947516, rs2110296712, rs936338537, rs2110325478, rs2109834757, rs1718842724, rs2110319166, rs2110390266, rs377137481, rs765291607, rs2476797839, rs120074156, rs120074157, rs120074158, rs120074159, rs730882178, rs730882179, rs730882180, rs2477286570, rs794727195, rs794727365, rs377046630, rs2475808518, rs886037766, rs886037765, rs878853009, rs745597204, rs2476513684, rs2475773659, rs1226253305, rs1282146892, rs1212739356, rs2477113430, rs2476965820, rs2477269322, rs181224126, rs1727323495, rs1718846418, rs2476518574, rs1727176227, rs2475792758, rs2476540252, rs1274650161, rs776570778, rs771770547, rs1560625478, rs1353055740, rs1167064690, rs754797599, rs755089224, rs773677827, rs1412653823, rs762051177, rs755750961, rs775517752, rs757311669, rs1578380159, rs1006839535, rs1560433104, rs1325190118, rs1432850828, rs1725182255, rs1725743022, rs748696533, rs1727394990, rs775259788, rs1338479649, rs186964660, rs1732856311, rs1732862637, rs1733155852, rs535527511, rs1734259370, rs753831692, rs1718790934, rs1718847595, rs771251344, rs1227013948, rs377369857, rs1721821279, rs1219344385, rs765622092, rs775548230, rs1727490024, rs376088537, rs200282443, rs1358085095, rs1721385740, rs371268544, rs1721982733, rs372173451, rs1727403682, rs777438557, rs1257736144	RCV001645007 RCV001645008 RCV001330026 RCV001376187 RCV001780361 RCV001536002 RCV001535834 RCV001535980 RCV005038268 RCV005040343 RCV001783311 RCV001781130 RCV001807682 RCV001807683 RCV001807684 RCV001806447 RCV001837046 RCV002489897 RCV005419301 RCV002284041 RCV000002943 RCV000002944 RCV000002946 RCV000002947 RCV000002948 RCV000002949 RCV000002950 RCV002470130 RCV002500475 RCV001172426 RCV001172407 RCV003138369 RCV000257997 RCV000257971 RCV002485447 RCV000778741 RCV003145709 RCV003148076 RCV003153167 RCV003226852 RCV003226853 RCV003226855 RCV003387496 RCV005036781 RCV003486316 RCV005036845 RCV005047663 RCV005220748 RCV005433417 RCV004594703 RCV005036912 RCV005047724 RCV005036954 RCV005047797 RCV005036957 RCV005036963 RCV005036991 RCV005037006 RCV005040534 RCV005038546 RCV005637076 RCV005040554 RCV005038544 RCV003986021 RCV000500822 RCV001330027 RCV000761280 RCV000768557 RCV000782142 RCV000782358 RCV000782359 RCV000790410 RCV001172405 RCV001172411 RCV001172414 RCV001172419 RCV001172416 RCV001172424 RCV001172412 RCV001172429 RCV001172408 RCV001172430 RCV001172415 RCV001172423 RCV001172427 RCV001172432 RCV001172434 RCV001172433 RCV001172431 RCV001172436 RCV001172439 RCV001172410 RCV001172425 RCV001172413 RCV001172421 RCV001172435 RCV001172428 RCV001172406 RCV001172438 RCV001172420 RCV001172440 RCV001376125 RCV001283840 RCV001283829 RCV001293651	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs2476965820	RCV005932729	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal agenesis	Pathogenic	rs2110155552, rs766539773, rs1719828511	RCV001807664 RCV001807675 RCV001807681	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs771251344	RCV005908885	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF KIDNEY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRASER SYNDROME	—	CTD, ClinGen, GWAS catalog, Orphanet CTD, ClinGen, GWAS catalog, Orphanet CTD, ClinGen, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial cleft 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rieger anomaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome type 2C	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ablepharon	Ablepharon	BEFREE	17163535		★☆☆☆☆ Found in Text Mining only
Absent eyebrow	Absent eyebrow	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35139885	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atresia of vagina	Atresia Of Vagina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bilateral hydronephrosis	Hydronephrosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
BNAR syndrome	BNAR Syndrome	BEFREE	21507892		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	27624506		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28027327	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	21900877	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	33719213	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	33719213	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	33719213	Associate	★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	Charge syndrome	Pubtator	33719213	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	BEFREE	22782724		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of kidney	Renal agenesis	BEFREE	21182980, 23064016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	BEFREE	21182980, 23064016		★☆☆☆☆ Found in Text Mining only
Congenital atresia of larynx	Congenital Atresia Of Larynx	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	29618029		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG	8055142		★☆☆☆☆ Found in Text Mining only
Cryptophthalmos	Cryptophthalmos	BEFREE	16894541, 18661360		★☆☆☆☆ Found in Text Mining only
Cryptophthalmos	Cryptophthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptophthalmos syndrome	Fraser syndrome	BEFREE	16894541, 17163535, 17990920, 18661360, 18671281, 21182980, 21507892, 21900877, 22510445, 22782724, 23064016, 23473829, 24115501, 26813283, 27624506		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cryptophthalmos syndrome	Fraser syndrome	CTD_human_DG	17163535		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cryptophthalmos syndrome	Fraser syndrome	ORPHANET_DG	23473829		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cryptophthalmos syndrome	Fraser syndrome	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cryptophthalmos syndrome	Fraser syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diaphragmatic Eventration	Diaphragmatic Eventration	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Ectopic anus	Ectopic anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Female Pseudohermaphroditism	Female Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fraser Syndrome	Fraser syndrome	Pubtator	21900877, 33719213, 35181022, 35595450	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fraser syndrome	Fraser Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRASER SYNDROME 1	Fraser Syndrome	GENOMICS_ENGLAND_DG	12766769, 16894541, 17163535, 18203166, 18671281, 8055142		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FRASER SYNDROME 1	Fraser Syndrome	CLINVAR_DG	27280866		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	37974210	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	33719213	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lacrimal duct aplasia	Lacrimal duct aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngeal web	Laryngeal web	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngostenosis	Laryngostenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	BEFREE	17163535		★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	CTD_human_DG	17163535		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31597194		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29435133		★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial dysostosis	Pubtator	33719213	Associate	★☆☆☆☆ Found in Text Mining only
Marles Greenberg Persaud syndrome	Marles Greenberg Persaud Syndrome	BEFREE	16894541		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	27047539		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	16894541		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33956343	Associate	★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	21182980, 23064016		★☆☆☆☆ Found in Text Mining only
Renal agenesis, unilateral	Renal Agenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Severe T-cell immunodeficiency	Immunodeficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31597194		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	15838507, 18661360, 26813283		★☆☆☆☆ 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
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	ORPHANET_DG	21900877, 24700879		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	BEFREE	23473829		★☆☆☆☆ Found in Text Mining only
Urethral atresia	Urethral atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only