EVC (EvC ciliary complex subunit 1)

Gene

• Entrez ID: 2121
• Gene name: EvC ciliary complex subunit 1
• Gene symbol: EVC
• Synonyms (NCBI Gene): DWF-1, EVC1, EVCL
• Chromosome: 4
• Chromosome location: 4p16.2
• Summary: This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35401386	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs41269547	A>G	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs41269549	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs41269557	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs121908424	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs121908425	C>A,T	Pathogenic, likely-benign	Stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs121908426	T>C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs141755737	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs145300726	C>G	Uncertain-significance, likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs146475474	->C	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs148418233	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs150373930	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, non coding transcript variant
rs150814290	G>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs151293705	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, non coding transcript variant
rs199916502	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs527255616	->T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, intron variant
rs550411377	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs587776619	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs748523193	C>A,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs750565190	T>A,C	Likely-pathogenic	Genic upstream transcript variant, missense variant, upstream transcript variant, coding sequence variant, non coding transcript variant
rs751772225	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs753014919	C>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs753317536	G>A,C	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs755381180	AAG>-	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, inframe deletion
rs758387379	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs759106605	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs760607210	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs762795511	C>G	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained, non coding transcript variant
rs764397417	G>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs765269619	C>G,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, synonymous variant
rs767913372	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs768485560	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs773019082	G>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs777852863	A>-,AA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs779275317	CAAAGGTCCACGCGGTGTGTCCT>-	Likely-pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, coding sequence variant, splice acceptor variant
rs779915989	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs781705295	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs794726665	G>A,T	Pathogenic	Genic downstream transcript variant, intron variant
rs794726666	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs896581899	C>T	Uncertain-significance, likely-pathogenic	Stop gained, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs909612975	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs967986192	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1007534611	G>T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1017946059	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1057517899	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1169539647	G>-	Likely-pathogenic	Coding sequence variant, splice donor variant, non coding transcript variant, genic downstream transcript variant
rs1262933856	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1293098417	A>C,G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1300178432	CAGGCTTTTCA>-	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant, non coding transcript variant
rs1363547577	G>A	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1407007311	C>T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs1424976594	A>G	Pathogenic-likely-pathogenic	Genic downstream transcript variant, intron variant
rs1437174284	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1446547358	C>T	Uncertain-significance, pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1485152854	G>A,C	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant
rs1553865346	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs1553867117	->A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1553867138	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553871764	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, frameshift variant
rs1553871792	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, frameshift variant
rs1553871866	T>G	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs1553873138	G>C	Likely-pathogenic	Intron variant, splice donor variant
rs1553873969	->AGCC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553876034	->GAACAGAGAAG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553876813	->T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553876870	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553886849	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1553889992	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1553891368	G>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1553891936	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1553892090	T>C	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs1553893423	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1553894457	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1553895755	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1553895776	G>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1560340993	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1577395250	->A	Pathogenic	Genic upstream transcript variant, frameshift variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs1577638781	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577663625	CAGGATGCTGTCCCAGCAGAAGAGGT>-	Likely-pathogenic	Intron variant, genic downstream transcript variant, non coding transcript variant, splice acceptor variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018424	hsa-miR-335-5p	Microarray	18185580
MIRT042772	hsa-miR-339-5p	CLASH	23622248
MIRT037807	hsa-miR-455-3p	CLASH	23622248
MIRT691894	hsa-miR-2278	HITS-CLIP	23313552
MIRT691893	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT691892	hsa-miR-4459	HITS-CLIP	23313552
MIRT691891	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT691890	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT691889	hsa-miR-4435	HITS-CLIP	23313552
MIRT680944	hsa-miR-6808-5p	HITS-CLIP	23706177
MIRT680943	hsa-miR-6893-5p	HITS-CLIP	23706177
MIRT680942	hsa-miR-940	HITS-CLIP	23706177
MIRT680941	hsa-miR-3929	HITS-CLIP	23706177
MIRT680940	hsa-miR-4419b	HITS-CLIP	23706177
MIRT680939	hsa-miR-4478	HITS-CLIP	23706177
MIRT680938	hsa-miR-4649-3p	HITS-CLIP	23706177
MIRT680937	hsa-miR-4667-5p	HITS-CLIP	23706177
MIRT680936	hsa-miR-4700-5p	HITS-CLIP	23706177
MIRT680935	hsa-miR-8089	HITS-CLIP	23706177
MIRT680934	hsa-miR-1827	HITS-CLIP	23706177
MIRT680933	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT680932	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT680931	hsa-miR-873-5p	HITS-CLIP	23706177
MIRT680930	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT680929	hsa-miR-3175	HITS-CLIP	23706177
MIRT680928	hsa-miR-1343-5p	HITS-CLIP	23706177
MIRT680927	hsa-miR-939-5p	HITS-CLIP	23706177
MIRT680926	hsa-miR-6825-5p	HITS-CLIP	23706177
MIRT680925	hsa-miR-3150a-3p	HITS-CLIP	23706177
MIRT680924	hsa-miR-6763-5p	HITS-CLIP	23706177
MIRT680923	hsa-miR-665	HITS-CLIP	23706177
MIRT691894	hsa-miR-2278	HITS-CLIP	23313552
MIRT691893	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT691892	hsa-miR-4459	HITS-CLIP	23313552
MIRT691891	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT691890	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT691889	hsa-miR-4435	HITS-CLIP	23313552
MIRT680944	hsa-miR-6808-5p	HITS-CLIP	23706177
MIRT680943	hsa-miR-6893-5p	HITS-CLIP	23706177
MIRT680942	hsa-miR-940	HITS-CLIP	23706177
MIRT680941	hsa-miR-3929	HITS-CLIP	23706177
MIRT680940	hsa-miR-4419b	HITS-CLIP	23706177
MIRT680939	hsa-miR-4478	HITS-CLIP	23706177
MIRT680938	hsa-miR-4649-3p	HITS-CLIP	23706177
MIRT680937	hsa-miR-4667-5p	HITS-CLIP	23706177
MIRT680936	hsa-miR-4700-5p	HITS-CLIP	23706177
MIRT680935	hsa-miR-8089	HITS-CLIP	23706177
MIRT680934	hsa-miR-1827	HITS-CLIP	23706177
MIRT680933	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT680932	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT680931	hsa-miR-873-5p	HITS-CLIP	23706177
MIRT680930	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT680929	hsa-miR-3175	HITS-CLIP	23706177
MIRT680928	hsa-miR-1343-5p	HITS-CLIP	23706177
MIRT680927	hsa-miR-939-5p	HITS-CLIP	23706177
MIRT680926	hsa-miR-6825-5p	HITS-CLIP	23706177
MIRT680925	hsa-miR-3150a-3p	HITS-CLIP	23706177
MIRT680924	hsa-miR-6763-5p	HITS-CLIP	23706177
MIRT680923	hsa-miR-665	HITS-CLIP	23706177
MIRT972147	hsa-miR-1193	CLIP-seq
MIRT972148	hsa-miR-1266	CLIP-seq
MIRT972149	hsa-miR-1284	CLIP-seq
MIRT972150	hsa-miR-1285	CLIP-seq
MIRT972151	hsa-miR-2114	CLIP-seq
MIRT972152	hsa-miR-24	CLIP-seq
MIRT972153	hsa-miR-3064-5p	CLIP-seq
MIRT972154	hsa-miR-3137	CLIP-seq
MIRT972155	hsa-miR-3155	CLIP-seq
MIRT972156	hsa-miR-3155b	CLIP-seq
MIRT972157	hsa-miR-3160-5p	CLIP-seq
MIRT972158	hsa-miR-326	CLIP-seq
MIRT972159	hsa-miR-329	CLIP-seq
MIRT972160	hsa-miR-330-5p	CLIP-seq
MIRT972161	hsa-miR-362-3p	CLIP-seq
MIRT972162	hsa-miR-378g	CLIP-seq
MIRT972163	hsa-miR-3941	CLIP-seq
MIRT972164	hsa-miR-3942-3p	CLIP-seq
MIRT972165	hsa-miR-4433	CLIP-seq
MIRT972166	hsa-miR-4437	CLIP-seq
MIRT972167	hsa-miR-4486	CLIP-seq
MIRT972168	hsa-miR-4518	CLIP-seq
MIRT972169	hsa-miR-4674	CLIP-seq
MIRT972170	hsa-miR-4687-3p	CLIP-seq
MIRT972171	hsa-miR-4710	CLIP-seq
MIRT972172	hsa-miR-4719	CLIP-seq
MIRT972173	hsa-miR-4786-3p	CLIP-seq
MIRT972174	hsa-miR-4789-5p	CLIP-seq
MIRT972175	hsa-miR-4792	CLIP-seq
MIRT972176	hsa-miR-484	CLIP-seq
MIRT972177	hsa-miR-507	CLIP-seq
MIRT972178	hsa-miR-548ah	CLIP-seq
MIRT972179	hsa-miR-548t	CLIP-seq
MIRT972180	hsa-miR-557	CLIP-seq
MIRT972181	hsa-miR-603	CLIP-seq
MIRT972182	hsa-miR-671-5p	CLIP-seq
MIRT972183	hsa-miR-766	CLIP-seq
MIRT972184	hsa-miR-939	CLIP-seq
MIRT1548446	hsa-miR-1207-5p	CLIP-seq
MIRT1548447	hsa-miR-4763-3p	CLIP-seq
MIRT1548446	hsa-miR-1207-5p	CLIP-seq
MIRT972148	hsa-miR-1266	CLIP-seq
MIRT972150	hsa-miR-1285	CLIP-seq
MIRT1988001	hsa-miR-1976	CLIP-seq
MIRT972151	hsa-miR-2114	CLIP-seq
MIRT972152	hsa-miR-24	CLIP-seq
MIRT972154	hsa-miR-3137	CLIP-seq
MIRT1988002	hsa-miR-3153	CLIP-seq
MIRT972157	hsa-miR-3160-5p	CLIP-seq
MIRT972158	hsa-miR-326	CLIP-seq
MIRT972160	hsa-miR-330-5p	CLIP-seq
MIRT1988003	hsa-miR-370	CLIP-seq
MIRT972162	hsa-miR-378g	CLIP-seq
MIRT1988004	hsa-miR-3925-3p	CLIP-seq
MIRT972164	hsa-miR-3942-3p	CLIP-seq
MIRT1988005	hsa-miR-4268	CLIP-seq
MIRT972166	hsa-miR-4437	CLIP-seq
MIRT1988006	hsa-miR-4448	CLIP-seq
MIRT972167	hsa-miR-4486	CLIP-seq
MIRT1988007	hsa-miR-4514	CLIP-seq
MIRT972168	hsa-miR-4518	CLIP-seq
MIRT1988008	hsa-miR-4645-5p	CLIP-seq
MIRT1988009	hsa-miR-4673	CLIP-seq
MIRT972169	hsa-miR-4674	CLIP-seq
MIRT1988010	hsa-miR-4692	CLIP-seq
MIRT1988011	hsa-miR-4736	CLIP-seq
MIRT1988012	hsa-miR-4757-5p	CLIP-seq
MIRT1548447	hsa-miR-4763-3p	CLIP-seq
MIRT1988013	hsa-miR-4768-5p	CLIP-seq
MIRT1988014	hsa-miR-552	CLIP-seq
MIRT972183	hsa-miR-766	CLIP-seq
MIRT972148	hsa-miR-1266	CLIP-seq
MIRT972150	hsa-miR-1285	CLIP-seq
MIRT2222461	hsa-miR-1294	CLIP-seq
MIRT972151	hsa-miR-2114	CLIP-seq
MIRT972152	hsa-miR-24	CLIP-seq
MIRT2222462	hsa-miR-2681	CLIP-seq
MIRT972154	hsa-miR-3137	CLIP-seq
MIRT972157	hsa-miR-3160-5p	CLIP-seq
MIRT2222463	hsa-miR-3176	CLIP-seq
MIRT2222464	hsa-miR-3178	CLIP-seq
MIRT972158	hsa-miR-326	CLIP-seq
MIRT972160	hsa-miR-330-5p	CLIP-seq
MIRT2222465	hsa-miR-3612	CLIP-seq
MIRT2222466	hsa-miR-3650	CLIP-seq
MIRT2222467	hsa-miR-3663-5p	CLIP-seq
MIRT972162	hsa-miR-378g	CLIP-seq
MIRT2222468	hsa-miR-3922-3p	CLIP-seq
MIRT972164	hsa-miR-3942-3p	CLIP-seq
MIRT2222469	hsa-miR-4316	CLIP-seq
MIRT972166	hsa-miR-4437	CLIP-seq
MIRT2222470	hsa-miR-4443	CLIP-seq
MIRT2222471	hsa-miR-4446-3p	CLIP-seq
MIRT972167	hsa-miR-4486	CLIP-seq
MIRT2222472	hsa-miR-4492	CLIP-seq
MIRT2222473	hsa-miR-4498	CLIP-seq
MIRT972168	hsa-miR-4518	CLIP-seq
MIRT2222474	hsa-miR-4527	CLIP-seq
MIRT972169	hsa-miR-4674	CLIP-seq
MIRT972170	hsa-miR-4687-3p	CLIP-seq
MIRT2222475	hsa-miR-4743	CLIP-seq
MIRT2222476	hsa-miR-4753-3p	CLIP-seq
MIRT1988013	hsa-miR-4768-5p	CLIP-seq
MIRT2222477	hsa-miR-4802-5p	CLIP-seq
MIRT2222478	hsa-miR-490-5p	CLIP-seq
MIRT972178	hsa-miR-548ah	CLIP-seq
MIRT972179	hsa-miR-548t	CLIP-seq
MIRT2222479	hsa-miR-647	CLIP-seq
MIRT2222480	hsa-miR-650	CLIP-seq
MIRT2222481	hsa-miR-762	CLIP-seq
MIRT972183	hsa-miR-766	CLIP-seq
MIRT2222482	hsa-miR-942	CLIP-seq
MIRT1988001	hsa-miR-1976	CLIP-seq
MIRT2387565	hsa-miR-331-3p	CLIP-seq
MIRT1988011	hsa-miR-4736	CLIP-seq
MIRT1988013	hsa-miR-4768-5p	CLIP-seq
MIRT2222482	hsa-miR-942	CLIP-seq
MIRT972150	hsa-miR-1285	CLIP-seq
MIRT972178	hsa-miR-548ah	CLIP-seq
MIRT972179	hsa-miR-548t	CLIP-seq
MIRT2526043	hsa-miR-1273c	CLIP-seq
MIRT2526044	hsa-miR-204	CLIP-seq
MIRT2526045	hsa-miR-211	CLIP-seq
MIRT972155	hsa-miR-3155	CLIP-seq
MIRT972156	hsa-miR-3155b	CLIP-seq
MIRT2526046	hsa-miR-3163	CLIP-seq
MIRT2526047	hsa-miR-3613-3p	CLIP-seq
MIRT2526048	hsa-miR-3614-3p	CLIP-seq
MIRT2526049	hsa-miR-3683	CLIP-seq
MIRT2526050	hsa-miR-4462	CLIP-seq
MIRT2526051	hsa-miR-4521	CLIP-seq
MIRT1988008	hsa-miR-4645-5p	CLIP-seq
MIRT1988009	hsa-miR-4673	CLIP-seq
MIRT2526052	hsa-miR-4684-5p	CLIP-seq
MIRT2526053	hsa-miR-4698	CLIP-seq
MIRT2526054	hsa-miR-4755-3p	CLIP-seq
MIRT2526055	hsa-miR-4755-5p	CLIP-seq
MIRT972176	hsa-miR-484	CLIP-seq
MIRT2526056	hsa-miR-548p	CLIP-seq
MIRT2526057	hsa-miR-623	CLIP-seq
MIRT2526058	hsa-miR-7	CLIP-seq
MIRT2526044	hsa-miR-204	CLIP-seq
MIRT2526045	hsa-miR-211	CLIP-seq
MIRT2526046	hsa-miR-3163	CLIP-seq
MIRT2526050	hsa-miR-4462	CLIP-seq
MIRT2526051	hsa-miR-4521	CLIP-seq
MIRT2526052	hsa-miR-4684-5p	CLIP-seq
MIRT2526053	hsa-miR-4698	CLIP-seq
MIRT2526055	hsa-miR-4755-5p	CLIP-seq
MIRT2526056	hsa-miR-548p	CLIP-seq
MIRT2526057	hsa-miR-623	CLIP-seq
MIRT2526058	hsa-miR-7	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	TAS	10700184
GO:0003416	Process	Endochondral bone growth	IEA
GO:0003416	Process	Endochondral bone growth	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA	21356043
GO:0005929	Component	Cilium	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007517	Process	Muscle organ development	TAS	10700184
GO:0016020	Component	Membrane	IEA
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	ISS
GO:0051216	Process	Cartilage development	IEA
GO:0060170	Component	Ciliary membrane	IBA
GO:0060170	Component	Ciliary membrane	IEA
GO:0060170	Component	Ciliary membrane	TAS
GO:0098797	Component	Plasma membrane protein complex	IBA
GO:0098797	Component	Plasma membrane protein complex	IEA

Other IDs

• MIM: 604831
• HGNC: 3497
• e!Ensembl: ENSG00000072840

Protein

• UniProt ID: P57679
• Protein name: EvC complex member EVC (DWF-1) (Ellis-van Creveld syndrome protein)
• Protein function: Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development.
• Tissue specificity: TISSUE SPECIFICITY: Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.
• Sequence:

  MARGGAACKSDARLLLGRDALRPAPALLAPAVLLGAALGLGLGLWLGCRAGRQRTRHQKD
  DTQNLLKNLESNAQTPSETGSPSRRRKREVQMSKDKEAVDECEPPSNSNITAFALKAKVI
  YPINQKFRPLADGSSNPSLHENLKQAVLPHQPVEASPSSSLGSLSQGEKDDCSSSSSVHS
  ATSDDRFLSRTFLRVNAFPEVLACESVDVDLCIYSLHLKDLLHLDTALRQEKHMMFIQIF
  KMCLLDLLPKKKSDDELYQKILSKQEKDLEELEKGLQVKLSNTEMSGAGDSEYITLADVE
  KKEREYSEQLIDNMEAFWKQMANIQHFLVDQFKCSSSKARQLMMTLTERMIAAEGLLCDS
  QELQALDALERTMGRAHMAKVIEFLKLQVQEETRCRLAAISHGLELLAGEGKLSGRQKEE
  LLTQQHKAFWQEAERFSREFVQRGKDLVTASLAHQVEGTAKLTLAQEEEQRSFLAEAQPT
  ADPEKFLEAFHEVLERQRLMQCDLEEEENVRATEAVVALCQELYFSTVDTFQKFVDALFL
  QTLPGMTGLPPEECDYLRQEVQENAAWQLGKSNRFRRQQWKLFQELLEQDQQVWMEECAL
  SSVLQTHLREDHEGTIRGVLGRLGGLTEESTRCVLQGHDLLLRSALRRLALRGNALATLT
  QMRLSGKKHLLQELREQRALEQGSSQCLDEHQWQLLRALEARVLEEASRLEEEAQQTRLQ
  LQQRLLAEAQEVGQLLQQHMECAIGQALLVHARNAATKSRAKDRDDFKRTLMEAAVESVY
  VTSAGVSRLVQAYYQQIGRIMEDHEERKLQHLKTLQGERMENYKLRKKQELSNPSSGSRT
  AGGAHETSQAVHQRMLSQQKRFLAQFPVHQQMRLHAQQQQAGVMDLLEAQLETQLQEAEQ
  NFISELAALARVPLAESKLLPAKRGLLEKPLRTKRKKPLPQERGDLGVPNNEDLASGDQT
  SGSLSSKRLSQQESEAGDSGNSKKMLKRRSNL

• Sequence length: 992

Pathways

KEGG:

Hedgehog signaling pathway

Reactome:

Hedgehog 'on' state
Activation of SMO

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
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely pathogenic; Pathogenic	rs767186464	RCV005912598	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs1293098417	RCV005901984	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Curry-Hall syndrome	Pathogenic; Likely pathogenic	rs1722986802, rs1381525157, rs767186464, rs2152387946, rs762136199, rs1553871764, rs1729663828, rs745627738, rs2152076522, rs2152076745, rs2152094799, rs2152289369, rs2152345583, rs561852174, rs2152375437, rs1736000365, rs2152326431, rs1730760070, rs2152340942, rs576076928, rs1445771901, rs2152000498, rs2152001027, rs2152375194, rs1560340266, rs753152908, rs2151766718, rs2152387847, rs1196950486, rs2151935987, rs2152340509, rs2151919221, rs1714132239, rs2151935449, rs2152326544, rs1560315890, rs1425513399, rs2151842413, rs539010490, rs2151946081, rs748201094, rs2152391901, rs1428798262, rs373088008, rs1312383000, rs2152326770, rs1560274093, rs1039706882, rs2151842550, rs2151768710, rs2151945937, rs794726665, rs2474424607, rs2474384588, rs1344124533, rs2474373707, rs2474944725, rs1729681346, rs2475060255, rs1326731095, rs121908424, rs121908425, rs121908426, rs794726666, rs2474608949, rs2474193970, rs2475378269, rs2474566006, rs1553875596, rs2474666866, rs2474380998, rs760043559, rs2475056620, rs1577564571, rs2474611174, rs1553857801, rs2474193391, rs2474198889, rs770649751, rs2474507123, rs2474673801, rs1560329339, rs1324604027, rs1735952327, rs2474564704, rs1447653524, rs1443064804, rs2475161097, rs2475385732, rs2474717066, rs2475379255, rs1366496332, rs2474656314, rs2475425024, rs2475384000, rs2476467657, rs909612975, rs779833768, rs2474506697, rs1553871866, rs1276815916, rs1577664431, rs2474190601, rs2475165782, rs2474373415, rs2474507433, rs886059495, rs2474673222, rs2474424005, rs2474376997, rs2474672497, rs2474386484, rs2475379592, rs2475159965, rs2474508727, rs2474716743, rs1553891368, rs775555999, rs146232611, rs2474375517, rs767913372, rs748523193, rs755381180, rs765269619, rs1553891936, rs759106605, rs751772225, rs1017946059, rs1553876034, rs1424976594, rs1446547358, rs527255616, rs760607210, rs1169539647, rs1553867117, rs1553873969, rs1262933856, rs773019082, rs1553892090, rs1007534611, rs1553871792, rs764397417, rs1553857828, rs1363547577, rs779915989, rs753014919, rs779275317, rs1553895776, rs1560340993, rs768485560, rs1437174284, rs1560323242, rs1460597472, rs1577395250, rs1293098417, rs1577663625, rs1439712140, rs774949132, rs374752679, rs767400887, rs753679094, rs1726841476, rs1729200967, rs553634958, rs1714412021, rs1251648799, rs1329006994, rs1723019796, rs1713228964, rs1485152854, rs1553873138, rs1714398710, rs1317662938, rs1729197529, rs1729654379, rs1730623318, rs1731156302	RCV001380195 RCV002611189 RCV001377982 RCV001378553 RCV001382945 RCV001381767 RCV001385786 RCV001385169 RCV001385913 RCV001388340 RCV001385204 RCV001388456 RCV001381686 RCV001387037 RCV001380697 RCV001882699 RCV002034559 RCV002541450 RCV001988728 RCV002031272 RCV002046312 RCV001993000 RCV001899273 RCV001892851 RCV001941809 RCV001917509 RCV001987550 RCV001953852 RCV001898179 RCV001903068 RCV002007284 RCV001864500 RCV002037849 RCV001993171 RCV002000008 RCV002037830 RCV002007593 RCV002002509 RCV001941596 RCV001877849 RCV001951253 RCV001905559 RCV001975003 RCV001956415 RCV001956416 RCV001953649 RCV001972595 RCV001883666 RCV001985091 RCV001956567 RCV001956568 RCV001958682 RCV003099152 RCV003090305 RCV002598826 RCV002651797 RCV002651798 RCV002651800 RCV002717207 RCV002775656 RCV001851677 RCV001045109 RCV000807465 RCV001383029 RCV003764530 RCV002800716 RCV002801841 RCV002838926 RCV002837571 RCV002830096 RCV002875515 RCV002875563 RCV002853246 RCV002876450 RCV002876169 RCV002872361 RCV002954055 RCV003020449 RCV003010421 RCV003018999 RCV003006205 RCV003038851 RCV003029107 RCV003055156 RCV003052019 RCV003032980 RCV003322662 RCV003778311 RCV003785451 RCV003785813 RCV003784600 RCV003782185 RCV003781030 RCV003795604 RCV003792862 RCV003798259 RCV003794406 RCV003791851 RCV003807998 RCV003806451 RCV003806902 RCV003799870 RCV003800130 RCV003805954 RCV003798870 RCV003799137 RCV003799138 RCV003803104 RCV003801042 RCV003801339 RCV003808564 RCV003808879 RCV003809074 RCV003804575 RCV003804596 RCV003802453 RCV003817999 RCV003813527 RCV003815726 RCV003810058 RCV003813280 RCV003813319 RCV003812849 RCV003818126 RCV003810289 RCV002488850 RCV001045278 RCV000526470 RCV003766903 RCV001050511 RCV001389791 RCV001383173 RCV000548054 RCV001382208 RCV001049990 RCV000637036 RCV000695327 RCV002532111 RCV001387632 RCV001235220 RCV000807466 RCV001229451 RCV001038169 RCV002531254 RCV002532061 RCV001213995 RCV001378366 RCV001383028 RCV001047674 RCV003767956 RCV002531324 RCV003767997 RCV001855487 RCV000804230 RCV001202364 RCV003767978 RCV000693001 RCV005213381 RCV001385924 RCV001856175 RCV003768448 RCV000800109 RCV000800691 RCV000824617 RCV001052409 RCV001041122 RCV001035927 RCV001054953 RCV001068092 RCV001048504 RCV001389687 RCV001222961 RCV001223333 RCV001204407 RCV001201711 RCV001210514 RCV001211362 RCV001214558 RCV001223287 RCV001223607 RCV001228381 RCV001247905 RCV001243415 RCV001241196 RCV001293691	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ellis-van Creveld syndrome	Pathogenic; Likely pathogenic	rs1722986802, rs1381525157, rs767186464, rs2152387946, rs762136199, rs1553871764, rs1729663828, rs745627738, rs2152076522, rs2152076745, rs2152094799, rs2152289369, rs2152345583, rs561852174, rs2152375437, rs1736000365, rs773019082, rs2152076090, rs2152326431, rs1730760070, rs2152340942, rs576076928, rs1445771901, rs2152000498, rs2152001027, rs2152375194, rs1560340266, rs753152908, rs2151766718, rs2152387847, rs1196950486, rs2151935987, rs2152340509, rs2151919221, rs1714132239, rs2151935449, rs2152326544, rs1560315890, rs1425513399, rs2151842413, rs539010490, rs2151946081, rs748201094, rs2152391901, rs1428798262, rs373088008, rs1312383000, rs2152326770, rs1560274093, rs1039706882, rs2151842550, rs2151768710, rs2151945937, rs794726665, rs2476465516, rs2475165491, rs2475161271, rs2475062325, rs2474947769, rs2474308188, rs2474192907, rs2476474498, rs2474192655, rs2475161920, rs2474192211, rs1388794781, rs2474375068, rs2474193568, rs2474192093, rs2474424607, rs2474191369, rs2474191062, rs2474508277, rs139263450, rs2475387716, rs2475164777, rs2475058279, rs367968708, rs2475422633, rs2474192840, rs2475383552, rs2475380111, rs201877358, rs2151945944, rs2475380993, rs2474194160, rs2474193269, rs2474193836, rs2475386527, rs2475381257, rs2474190790, rs2475386875, rs2474192685, rs2474193071, rs2474193910, rs2476467795, rs2474192025, rs2474716928, rs2474944725, rs2474306346, rs2474384588, rs1344124533, rs2474373707, rs1729681346, rs2475060255, rs1326731095, rs121908424, rs121908425, rs587776619, rs121908426, rs794726666, rs2474608949, rs2474193970, rs2475378269, rs2474566006, rs1553875596, rs2474666866, rs2474380998, rs760043559, rs2475056620, rs1577564571, rs2474611174, rs1553857801, rs2474193391, rs2474198889, rs770649751, rs2474507123, rs2474673801, rs1560329339, rs1324604027, rs1735952327, rs2474564704, rs1447653524, rs1443064804, rs2475161097, rs2475385732, rs2474717066, rs2475379255, rs1366496332, rs2474656314, rs2475425024, rs2475384000, rs2476467657, rs909612975, rs779833768, rs2474506697, rs1553871866, rs1276815916, rs1577664431, rs2474190601, rs2475165782, rs2474373415, rs2474507433, rs886059495, rs2474673222, rs2474424005, rs2474376997, rs2474672497, rs2474386484, rs2475379592, rs2475159965, rs2474508727, rs2474716743, rs1553891368, rs775555999, rs146232611, rs2474375517, rs777852863, rs1730766213, rs150814290, rs146475474, rs767913372, rs748523193, rs755381180, rs765269619, rs1553891936, rs759106605, rs751772225, rs1017946059, rs1553876034, rs1424976594, rs1553865346, rs1553876870, rs1446547358, rs1553865348, rs1485152854, rs527255616, rs1553873138, rs760607210, rs1169539647, rs1553867117, rs1553873969, rs1262933856, rs1553889992, rs1553892090, rs1553895755, rs1007534611, rs1553857995, rs1553871792, rs1300178432, rs1553876813, rs764397417, rs1553857828, rs1363547577, rs1553867138, rs779915989, rs1553886849, rs753014919, rs779275317, rs1553894457, rs1553895776, rs1560340993, rs768485560, rs1437174284, rs1560323242, rs1460597472, rs1577395250, rs1293098417, rs1577663625, rs762795511, rs1577638781, rs1439712140, rs774949132, rs374752679, rs767400887, rs753679094, rs1726841476, rs1729200967, rs1715585498, rs553634958, rs1714412021, rs1251648799, rs1329006994, rs1723019796, rs1713228964, rs1714398710, rs1317662938, rs1729197529, rs1729654379, rs1730623318, rs1731156302	RCV001312198 RCV002611189 RCV001377982 RCV001378553 RCV001382945 RCV001381767 RCV001385786 RCV001385169 RCV001385913 RCV001388340 RCV001385204 RCV001388456 RCV001381686 RCV001387037 RCV001380697 RCV001580697 RCV001580698 RCV001580699 RCV002034559 RCV001806404 RCV001988728 RCV002031272 RCV002046312 RCV001993000 RCV001899273 RCV001892851 RCV001941809 RCV001917509 RCV001987550 RCV001953852 RCV001898179 RCV001903068 RCV002007284 RCV001864500 RCV002037849 RCV001993171 RCV002000008 RCV002037830 RCV002007593 RCV002002509 RCV001941596 RCV001877849 RCV001951253 RCV001905559 RCV001975003 RCV001956415 RCV001956416 RCV001953649 RCV001972595 RCV001883666 RCV001985091 RCV001956567 RCV001956568 RCV001958682 RCV002306546 RCV002306599 RCV002306654 RCV002306758 RCV002306801 RCV002309548 RCV002309559 RCV002309633 RCV002309922 RCV002309951 RCV002307912 RCV002307946 RCV002308140 RCV002308172 RCV002308185 RCV002309081 RCV002309084 RCV002309138 RCV002309144 RCV002309231 RCV002309273 RCV002309382 RCV002309442 RCV002306859 RCV002306861 RCV002306901 RCV002306916 RCV002307032 RCV002307035 RCV002307157 RCV002307174 RCV002307252 RCV002307254 RCV002307255 RCV002310151 RCV002310158 RCV002310160 RCV002310181 RCV002310222 RCV002310228 RCV002310267 RCV002310287 RCV002310343 RCV002310458 RCV002310560 RCV002308415 RCV003090305 RCV002598826 RCV002651797 RCV002651798 RCV002651800 RCV002717207 RCV002775656 RCV000005666 RCV000005667 RCV000005668 RCV000005669 RCV000005672 RCV000005673 RCV002800716 RCV002801841 RCV002838926 RCV002837571 RCV002830096 RCV002875515 RCV002875563 RCV002853246 RCV002876450 RCV002876169 RCV002872361 RCV002954055 RCV003020449 RCV003010421 RCV003018999 RCV003006205 RCV003038851 RCV003029107 RCV003055156 RCV003052019 RCV003032980 RCV003777326 RCV003778311 RCV003785451 RCV003785813 RCV003784600 RCV003782185 RCV003781030 RCV003795604 RCV003792862 RCV003798259 RCV003794406 RCV003791851 RCV003807998 RCV003806451 RCV003806902 RCV003799870 RCV003800130 RCV003805954 RCV003798870 RCV003799137 RCV003799138 RCV003803104 RCV003801042 RCV003801339 RCV003808564 RCV003808879 RCV003809074 RCV003804575 RCV003804596 RCV003802453 RCV003817999 RCV003813527 RCV003815726 RCV003810058 RCV003813280 RCV003813319 RCV003812849 RCV003818126 RCV003810289 RCV003989943 RCV003990160 RCV000409380 RCV000411885 RCV001828380 RCV000665849 RCV000526470 RCV000516024 RCV000674284 RCV000527392 RCV001383173 RCV000548054 RCV000534638 RCV000578283 RCV000625587 RCV000625588 RCV000637036 RCV000666115 RCV000668921 RCV000674924 RCV000674181 RCV000666798 RCV000669809 RCV000671758 RCV000673841 RCV000664817 RCV000671655 RCV000666935 RCV000670126 RCV000671523 RCV000670543 RCV000667205 RCV000666044 RCV000672556 RCV000674216 RCV000674011 RCV000672688 RCV000673304 RCV000672495 RCV000668673 RCV000667482 RCV000672868 RCV000672542 RCV000669260 RCV000667721 RCV000673971 RCV000666228 RCV000665782 RCV000665984 RCV000669817 RCV000693001 RCV005213381 RCV000761603 RCV001856175 RCV003768448 RCV000790404 RCV000800109 RCV000800691 RCV000824617 RCV000991073 RCV000991074 RCV001052409 RCV001041122 RCV001035927 RCV001054953 RCV001068092 RCV001048504 RCV001175203 RCV001175204 RCV001222961 RCV001223333 RCV001204407 RCV001201711 RCV001210514 RCV001211362 RCV001214558 RCV001223287 RCV001223607 RCV001228381 RCV001247905 RCV001243415 RCV001241196 RCV005225361	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EVC-associated disorder	Likely pathogenic; Pathogenic	rs1424976594	RCV005621974	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EVC-related disorder	Likely pathogenic; Pathogenic	rs576076928, rs1560340266, rs1443064804, rs2475385732, rs1446547358, rs1553865348, rs779275317	RCV004752132 RCV003395319 RCV003419047 RCV003893384 RCV004547793 RCV003424269 RCV003403539	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Pathogenic	rs2152375437	RCV005866986	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short-rib thoracic dysplasia 6 with or without polydactyly	Likely pathogenic; Pathogenic	rs794726665, rs121908425, rs748523193, rs755381180	RCV000516013 RCV000516113 RCV000516149 RCV000515867	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ACROFACIAL DYSOSTOSIS, WEYERS TYPE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ELLIS VAN CREVELD SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJEWSKI SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEONECROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEYERS ACROFACIAL DYSOSTOSIS	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondroplasia	Achondroplasia	BEFREE	8661097		★☆☆☆☆ Found in Text Mining only
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrofacial dysostosis, Weyers type	Acrofacial Dysostosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alveolar ridge abnormality	Alveolar Ridge Abnormality	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	20659440		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	25311364		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	33875766	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	20087401	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	20087401		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	20087401	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	29257216		★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital microtia	Pubtator	24983964	Associate	★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	BEFREE	24983964		★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_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
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29273463	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29273463		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	36514817	Associate	★☆☆☆☆ Found in Text Mining only
Dysostoses	Dysostoses	BEFREE	19810119		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ellis Van Creveld Syndrome	Ellis-van creveld syndrome	Pubtator	17392984, 18947413, 20184732, 25908617, 29229899, 31338997, 36932784, 37157924, 37684519, 38531627	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ellis Van Creveld syndrome	Ellis-Van Creveld Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	CLINGEN_DG	10700184, 17660199, 19251731, 23026747		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	UNIPROT_DG	10700184, 18947413, 19744229		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	CLINVAR_DG	10700184, 17024374, 19744229, 19810119, 20184732, 23220543, 28854412, 29068549, 29321360		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	BEFREE	16404586, 18947413, 19251731, 19810119, 21815252, 23220543		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	LHGDN	18947413		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	ORPHANET_DG	18947413, 19744229, 22791528, 23220543		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	GENOMICS_ENGLAND_DG	21815252		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epispadias	Epispadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	17392984	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	29229899	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ 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
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	11376442		★☆☆☆☆ Found in Text Mining only
Majewski Syndrome	Majewski Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	25311364		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	25311364		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	25311364		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	25311364		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peg-shaped teeth	Peg-Shaped Teeth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	37684519	Associate	★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	29257216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vertical Talus	Vertical Talus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Weyers acrofacial dysostosis	Weyers Acrofacial Dysostosis	ORPHANET_DG	10700184		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weyers acrofacial dysostosis	Weyers Acrofacial Dysostosis	UNIPROT_DG	10700184		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weyers acrofacial dysostosis	Weyers Acrofacial Dysostosis	CLINVAR_DG	10700184, 17024374, 19744229, 19810119, 23220543, 29068549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weyers acrofacial dysostosis	Weyers Acrofacial Dysostosis	BEFREE	21815252, 23220543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weyers acrofacial dysostosis	Weyers Acrofacial Dysostosis	GENOMICS_ENGLAND_DG	21815252		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weyers acrofacial dysostosis	Weyers acrofacial dysostosis	Pubtator	38531627	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weyers acrofacial dysostosis	Weyers Acrofacial Dysostosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolfram Syndrome	Wolfram Syndrome	BEFREE	15492864		★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome	Wolfram Syndrome	LHGDN	15492864		★☆☆☆☆ Found in Text Mining only