EVC2 (EvC ciliary complex subunit 2)

Gene

• Entrez ID: 132884
• Gene name: EvC ciliary complex subunit 2
• Gene symbol: EVC2
• Synonyms (NCBI Gene): LBN, WAD
• Chromosome: 4
• Chromosome location: 4p16.2
• Summary: This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dy

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35103377	AA>-,A,AAA,AAAA,AAAAA	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs73198165	G>A,T	Benign-likely-benign, pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs137852924	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs137852925	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs137852926	A>C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs137852927	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs139129327	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs139936564	C>A,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs143388379	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs144167138	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs145425340	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs145693546	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs146538906	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs146588335	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs150367317	C>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs150691722	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant, non coding transcript variant
rs200300612	A>G	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs201083070	C>A,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs202191109	T>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs367655073	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs376133710	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs544397395	G>T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, missense variant
rs548681312	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs556910528	G>A	Conflicting-interpretations-of-pathogenicity, benign	Intron variant, upstream transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs557830930	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, upstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs587776568	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs730882232	->GCATTCAAAAAGTTCTTCTTTTTC	Likely-pathogenic	Inframe insertion, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs748820015	G>C,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, 5 prime UTR variant
rs749251178	C>A,G	Likely-pathogenic	Splice acceptor variant
rs750396637	CCCGGGC>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs751356206	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs753581033	G>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs755789146	GCCGTGGTGCGGCAGAACCTGTGGAG>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, splice acceptor variant, intron variant
rs756424912	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs760066386	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs760382778	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs761707323	C>A	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs762947212	C>A,G,T	Likely-pathogenic	Splice donor variant
rs763363403	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs767072839	T>A,C	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, missense variant, non coding transcript variant
rs769799880	T>C	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs769864196	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs770918273	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs771435248	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs772840335	TT>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs774416029	->A	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs777505711	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs778793911	AGCAGGGCCAGCAGCTGAG>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs779857359	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs781009014	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, coding sequence variant, genic upstream transcript variant, synonymous variant, upstream transcript variant
rs781096099	A>C,G	Likely-pathogenic	Splice donor variant
rs781623802	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886037763	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886037764	C>A,T	Likely-pathogenic	Coding sequence variant, intron variant, stop gained, missense variant
rs886044525	T>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, non coding transcript variant
rs965707319	G>A,T	Likely-pathogenic	5 prime UTR variant, synonymous variant, stop gained, non coding transcript variant, coding sequence variant
rs981099037	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs992326794	->CCCCG	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, 5 prime UTR variant, frameshift variant
rs1159758018	TCCC>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1214848359	C>A	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant
rs1221185345	GATCCCGGGG>-	Pathogenic, likely-pathogenic	Frameshift variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant
rs1236566474	G>A	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1265421045	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1294715119	A>G	Likely-pathogenic	Splice donor variant
rs1302074641	T>C,G	Pathogenic	Splice acceptor variant
rs1305301849	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs1307502841	C>T	Likely-pathogenic	Splice donor variant
rs1420414097	CTCCGCCCCG>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1430962566	->A	Likely-pathogenic	Coding sequence variant, upstream transcript variant, intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1431987950	TCTGCTTGATTGAAA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, inframe indel
rs1447633595	C>A,G,T	Likely-pathogenic	Splice donor variant
rs1477102573	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant, intron variant
rs1490912913	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1553811863	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1553812417	G>TC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1553815019	C>T	Likely-pathogenic, pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant
rs1553818428	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1553833239	T>C	Likely-pathogenic	Splice acceptor variant
rs1553836165	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553836169	C>T	Likely-pathogenic	Splice acceptor variant
rs1553837446	C>G	Likely-pathogenic	Splice acceptor variant
rs1553840713	CC>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1553846613	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1553849875	->G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1553849894	T>C	Likely-pathogenic	Splice acceptor variant
rs1553850677	C>A	Likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1553851462	->A	Likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1553851870	T>C	Likely-pathogenic	Splice acceptor variant
rs1553852469	C>-	Likely-pathogenic	5 prime UTR variant, splice donor variant, coding sequence variant, non coding transcript variant
rs1553855074	->CCCGCCCCGC	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, intron variant, frameshift variant
rs1553855127	->GGGGCGCCAGCGGGGACGTGAG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, intron variant, upstream transcript variant, frameshift variant
rs1553855151	->C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, intron variant, upstream transcript variant, frameshift variant
rs1560121645	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1577093161	A>C,T	Pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1577093203	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577093258	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577095782	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577170055	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT646805	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT646804	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT646803	hsa-miR-1245b-3p	HITS-CLIP	23824327
MIRT646802	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT646801	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT646800	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT646799	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT646798	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT646797	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT646796	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT646795	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT646793	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT646794	hsa-miR-6721-5p	HITS-CLIP	23824327
MIRT646792	hsa-miR-5100	HITS-CLIP	23824327
MIRT646791	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT646790	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT646789	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT646788	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT646805	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT646804	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT646803	hsa-miR-1245b-3p	HITS-CLIP	23824327
MIRT646802	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT646801	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT646800	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT646799	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT646798	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT646797	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT646796	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT646795	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT646793	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT646794	hsa-miR-6721-5p	HITS-CLIP	23824327
MIRT646792	hsa-miR-5100	HITS-CLIP	23824327
MIRT646791	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT646790	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT646789	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT646788	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT972141	hsa-miR-1909	CLIP-seq
MIRT972142	hsa-miR-3691-5p	CLIP-seq
MIRT972143	hsa-miR-3911	CLIP-seq
MIRT972144	hsa-miR-4447	CLIP-seq
MIRT972145	hsa-miR-4472	CLIP-seq
MIRT972146	hsa-miR-4752	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0016020	Component	Membrane	IEA
GO:0042995	Component	Cell projection	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: 607261
• HGNC: 19747
• e!Ensembl: ENSG00000173040

Protein

• UniProt ID: Q86UK5
• Protein name: Limbin (Ellis-van Creveld syndrome protein 2) (EVC2)
• Protein function: Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12297	EVC2_like	237 → 660	Ellis van Creveld protein 2 like protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:12468274}.
• Sequence:

  MDPSGSRGRPTWVLAGGLLAVALALGGRGCLGASSRPRWRPLGAQPPRDPQVAPRSGPGL
  RIPPGRSGAGPESSTQDLPCMIWPKVECCHFKTAVEAPLGMKLDKKMEVFIPLSTSAASS
  GPWAHSLFAFIPSWPKKNLFKRESPITHRLYGDISREVQGTSENGVIFQKCALVSGSSEA
  QTARIWLLVNNTKTTSSANLSELLLLDSIAGLTIWDSVGNRTSEGFQAFSKKFLQVGDAF
  AVSYAATLQAGDLGNGESLKLPAQLTFQSSSRNRTQLKVLFSITAEENVTVLPHHGLHAA
  GFFIAFLLSLVLTWAALFLMVRYQCLKGNMLTRHRVWQYESKLEPLPFTSADGVNEDLSL
  NDQMIDILSSEDPGSMLQALEELEIATLNRADADLEACRTQISKDIIALLLKNLTSSGHL
  SPQVERKMSAVFKKQFLLLENEIQEEYDRKMVALTAECDLETRKKMENQYQREMMAMEEA
  EELLKRAGERSAVECSNLLRTLHGLEQEHLRKSLALQQEEDFAKAHRQLAVFQRNELHSI
  FFTQIKSAIFKGELKPEAAKMLLQNYSKIQENVEELMDFFQASKRYHLSKRFGHREYLVQ
  NLQSSETRVQGLLSTAAAQLTHLIQKHERAGYLDEDQMEMLLERAQTEVFSIKQKLDNDL
  KQEKKKLHQKLITKRRRELLQKHREQRREQASVGEAFRTVEDAGQYLHQKRSLMEEHGAT
  LEELQERLDQAALDDLRTLTLSLFEKATDELRRLQNSAMTQELLKRGVPWLFLQQILEEH
  GKEMAARAEQLEGEERDRDQEGVQSVRQRLKDDAPEAVTEEQAELRRWEHLIFMKLCSSV
  FSLSEEELLRMRQEVHGCFAQMDRSLALPKIRARVLLQQFQTAWREAEFVKLDQAVAAPE
  LQQQSKVRKSRSKSKSKGELLKKCIEDKIHLCEEQASEDLVEKVRGELLRERVQRMEAQE
  GGFAQSLVALQFQKASRVTETLSAYTALLSIQDLLLEELSASEMLTKSACTQILESHSRE
  LQELERKLEDQLVQQEAAQQQQALASWQQWVADGPGILNEPGEVDSERQVSTVLHQALSK
  SQTLLEQHQQCLREEQQNSVVLEDLLENMEADTFATLCSQELRLASYLARMAMVPGATLR
  RLLSVVLPTASQPQLLALLDSATERHVDHAAESDGGAEQADVGRRRKHQSWWQALDGKLR
  GDLISRGLEKMLWARKRKQSILKKTCLPLRERMIFSGKGSWPHLSLEPIGELAPVPIVGA
  ETIDLLNTGEKLFIFRNPKEPEISLHVPPRKKKNFLNAKKAMRALGMD

• Sequence length: 1308

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
Curry-Hall syndrome	Likely pathogenic; Pathogenic	rs2108833043, rs2108851273, rs1294715119, rs145425340, rs765076649, rs1367694162, rs2108847232, rs2108851802, rs2108863739, rs2108895910, rs1560208675, rs2151739558, rs2151750076, rs1577093161, rs1560121645, rs1484464278, rs2108900159, rs1442303442, rs757914735, rs2108838579, rs2108851279, rs1577194652, rs369739594, rs762947212, rs2108833500, rs1355905411, rs2108778725, rs2108843186, rs2108829049, rs772639262, rs2151728030, rs2108847014, rs2151724043, rs779707723, rs372215987, rs1400121444, rs2108767230, rs1291275281, rs2108833230, rs1560126707, rs2108839112, rs1717244500, rs2108777040, rs2151724149, rs1369020144, rs1360260333, rs942590430, rs1253403779, rs2151750059, rs2108843224, rs2151739536, rs1345487794, rs2108770774, rs752255602, rs60809236, rs2108843158, rs2108851695, rs745404766, rs2108788549, rs1176738073, rs2475236642, rs1265421045, rs137852924, rs137852925, rs137852927, rs587776568, rs751356206, rs750396637, rs765883164, rs2475235794, rs2475505734, rs2475360211, rs1553855074, rs1715829691, rs1722451930, rs755880828, rs2475376119, rs2474141872, rs1560172761, rs2475590742, rs2474100561, rs2475437040, rs2474100239, rs781096099, rs746277047, rs2475376941, rs1721102486, rs2475591341, rs2475236718, rs186349183, rs2475374019, rs1716303868, rs779407729, rs1339651649, rs886037763, rs1421156255, rs2475236316, rs1319211611, rs548681312, rs2475235455, rs886044525, rs200300612, rs2475361354, rs1308566542, rs2475374973, rs1715435004, rs2475207726, rs2474142706, rs1043590599, rs1383803030, rs1722942071, rs2475373423, rs2475436920, rs2475374238, rs2474142661, rs2475376224, rs2474100327, rs2475166040, rs576455064, rs771460962, rs2475407665, rs2475385487, rs2475376934, rs2475360496, rs2475591669, rs1396804493, rs2475236297, rs2475566241, rs2475350092, rs749251178, rs2475506108, rs2475236518, rs1420414097, rs2475361154, rs2475514671, rs184703595, rs2475591881, rs2474100983, rs2475506088, rs2475182776, rs2475385307, rs2475438095, rs2475374192, rs1717279590, rs2475407272, rs2475360516, rs2475350507, rs1159674022, rs760459672, rs1447633595, rs2475406381, rs2475395843, rs2475374658, rs2475386039, rs965707319, rs1302074641, rs146538906, rs779857359, rs1553815019, rs376133710, rs1553836165, rs769864196, rs761707323, rs981099037, rs753581033, rs1553833239, rs767072839, rs777505711, rs1553849894, rs1553855151, rs770918273, rs1553851870, rs769799880, rs992326794, rs1431987950, rs1553836169, rs772840335, rs755789146, rs1305301849, rs1553850677, rs778793911, rs1553851462, rs760382778, rs73198165, rs1553855127, rs1430962566, rs763363403, rs1236566474, rs1214848359, rs1221185345, rs1477102573, rs748820015, rs774416029, rs1577093258, rs144167138, rs1577170055, rs781623802, rs1553818428, rs1722452431, rs1722814486, rs200560762, rs1715453232, rs1282621867, rs1284395468, rs758841632, rs999964757, rs1036371676, rs768380281, rs186197620, rs1715829134, rs1560180583, rs1717259479, rs1368193719, rs1391194715, rs1720937470, rs1721107398, rs1301855639, rs1715768907, rs769520928	RCV001377221 RCV001379523 RCV001379931 RCV001383513 RCV001391002 RCV001386071 RCV001389764 RCV001387985 RCV001389734 RCV001386541 RCV001382257 RCV001390304 RCV001389765 RCV000088667 RCV000088668 RCV000088669 RCV002557520 RCV002592515 RCV003781374 RCV002034560 RCV001965367 RCV001959620 RCV001990716 RCV001889169 RCV001991637 RCV001941732 RCV002019716 RCV001921224 RCV001917568 RCV001884555 RCV001944964 RCV001959706 RCV001954726 RCV002019155 RCV002002395 RCV002037810 RCV001916134 RCV001874892 RCV001896680 RCV001942081 RCV001917989 RCV001960740 RCV001974821 RCV002009459 RCV001950069 RCV001946943 RCV002030119 RCV001936430 RCV001963011 RCV001946640 RCV001871236 RCV001956412 RCV001951340 RCV001917353 RCV002010308 RCV001949568 RCV001949600 RCV001951546 RCV001895069 RCV001867050 RCV003099130 RCV003099161 RCV001070497 RCV000763528 RCV001228211 RCV000799858 RCV000003555 RCV000763526 RCV001205094 RCV002664334 RCV003105238 RCV003119024 RCV002593970 RCV002591000 RCV002631782 RCV002666958 RCV002666750 RCV002695998 RCV002796577 RCV002810214 RCV002833111 RCV002857024 RCV002866836 RCV002880783 RCV002885119 RCV002876818 RCV002871509 RCV002908238 RCV002971147 RCV002934077 RCV002971639 RCV002976184 RCV002972228 RCV003026355 RCV003029096 RCV001853278 RCV003043403 RCV003059738 RCV003059631 RCV001040343 RCV005029950 RCV001850474 RCV000695869 RCV003785615 RCV003782332 RCV003785281 RCV003781028 RCV003790103 RCV003789139 RCV003789311 RCV003784776 RCV003792070 RCV003794670 RCV003807937 RCV003808108 RCV003806197 RCV003808315 RCV003806456 RCV003806960 RCV003791042 RCV003791366 RCV003805456 RCV003805858 RCV003805920 RCV003805997 RCV003803905 RCV003801559 RCV003799164 RCV003802900 RCV003803222 RCV003803359 RCV003801075 RCV003808178 RCV003808655 RCV003807099 RCV003807153 RCV003809356 RCV003804614 RCV003802430 RCV003813478 RCV003809653 RCV003810072 RCV003815496 RCV003815623 RCV003813321 RCV003813346 RCV003807428 RCV003807614 RCV003812420 RCV003812840 RCV003812861 RCV003812978 RCV003807251 RCV003805129 RCV003805204 RCV003812292 RCV003810211 RCV001861425 RCV005222701 RCV001852025 RCV001857266 RCV003766905 RCV001228575 RCV003766904 RCV001245243 RCV001388085 RCV002525122 RCV001214869 RCV000763527 RCV001213406 RCV002485541 RCV005027814 RCV001290312 RCV001042997 RCV001048959 RCV001045528 RCV000806029 RCV002532148 RCV001213458 RCV001868263 RCV002531344 RCV001855549 RCV002499173 RCV001052473 RCV001216770 RCV001214748 RCV002531237 RCV001861843 RCV000702796 RCV003767983 RCV001382204 RCV001034899 RCV001387440 RCV001207757 RCV001861758 RCV001236351 RCV001222326 RCV001046842 RCV000704017 RCV001390829 RCV000704338 RCV000698365 RCV000792528 RCV000801826 RCV000815558 RCV000812864 RCV000818984 RCV000809734 RCV001059845 RCV001039912 RCV001056093 RCV001049244 RCV001048066 RCV001060270 RCV001052472 RCV001059956 RCV001055590 RCV001052250 RCV001057263 RCV001197932 RCV001220420 RCV001215334 RCV001222201 RCV001222202 RCV001206918 RCV001236098 RCV001235949 RCV001245792 RCV001386726 RCV001871668 RCV001304603	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ellis-van Creveld syndrome	Likely pathogenic; Pathogenic	rs2108833043, rs2108851273, rs1294715119, rs145425340, rs765076649, rs1367694162, rs2108847232, rs2108851802, rs2108863739, rs2108895910, rs1560208675, rs2151739558, rs2151750076, rs1577093161, rs1484464278, rs2151750195, rs2108900159, rs2108843144, rs1442303442, rs757914735, rs2108838579, rs2108851279, rs1577194652, rs369739594, rs762947212, rs2108833500, rs1355905411, rs2108778725, rs2108843186, rs2108829049, rs772639262, rs2151728030, rs2108847014, rs2151724043, rs779707723, rs372215987, rs1400121444, rs2108767230, rs1291275281, rs2108833230, rs1560126707, rs2108839112, rs1717244500, rs2108777040, rs2151724149, rs1369020144, rs1360260333, rs942590430, rs1253403779, rs2151750059, rs2108843224, rs2151739536, rs1345487794, rs2108770774, rs752255602, rs60809236, rs2108843158, rs2108851695, rs745404766, rs2108788549, rs2108851441, rs2151736638, rs1176738073, rs2475183787, rs2475375376, rs2475437004, rs2475208623, rs2475236700, rs2475374125, rs2475395618, rs2475235098, rs2474100970, rs2475350575, rs2475407465, rs868183689, rs2475350406, rs2475438306, rs2475395424, rs2475438200, rs2475376434, rs2475579060, rs2475407458, rs2475438548, rs2475236631, rs2475201744, rs2475597907, rs2475591015, rs2475376968, rs2475407728, rs2475515135, rs2475578805, rs2474109890, rs2475182808, rs2108864342, rs2475385758, rs2475236642, rs2475385703, rs1383783171, rs2475406567, rs2475515476, rs2475438203, rs2475578663, rs2475506558, rs2474100239, rs2475184249, rs1265421045, rs137852924, rs137852925, rs137852926, rs137852927, rs751356206, rs750396637, rs765883164, rs2475235794, rs2475505734, rs2475360211, rs1553855074, rs1715829691, rs1722451930, rs755880828, rs2475376119, rs2474141872, rs1560172761, rs2475590742, rs2474100561, rs2475437040, rs781096099, rs746277047, rs2475376941, rs1721102486, rs2475591341, rs2475236718, rs186349183, rs2475374019, rs1716303868, rs779407729, rs1339651649, rs886037764, rs886037763, rs1421156255, rs2475236316, rs1319211611, rs548681312, rs2475235455, rs2475385815, rs886044525, rs2474141903, rs200300612, rs2475361354, rs1308566542, rs2475374973, rs1715435004, rs2475207726, rs2474142706, rs1043590599, rs1383803030, rs1722942071, rs2475373423, rs2475436920, rs2475374238, rs2474142661, rs2475376224, rs2474100327, rs2475166040, rs576455064, rs771460962, rs2475407665, rs2475385487, rs2475376934, rs2475360496, rs2475591669, rs1396804493, rs2475236297, rs2475566241, rs2475350092, rs749251178, rs2475506108, rs2475236518, rs1420414097, rs2475361154, rs2475514671, rs184703595, rs2475591881, rs2474100983, rs2475506088, rs2475182776, rs2475385307, rs2475438095, rs2475374192, rs1717279590, rs2475407272, rs2475360516, rs2475350507, rs1159674022, rs760459672, rs1447633595, rs2475406381, rs2475395843, rs2475374658, rs2475386039, rs965707319, rs1302074641, rs146538906, rs779857359, rs1553815019, rs376133710, rs1553836165, rs769864196, rs761707323, rs981099037, rs1553812417, rs753581033, rs760066386, rs1553833239, rs767072839, rs777505711, rs1553849894, rs1553855151, rs770918273, rs1553837446, rs1553811863, rs1307502841, rs1553851870, rs1553818428, rs769799880, rs992326794, rs1431987950, rs1553836169, rs772840335, rs755789146, rs1305301849, rs1553850677, rs778793911, rs1553851462, rs760382778, rs73198165, rs1553855127, rs1490912913, rs1430962566, rs1159758018, rs1553840713, rs763363403, rs1236566474, rs1553852469, rs1214848359, rs1221185345, rs1477102573, rs748820015, rs774416029, rs1577093258, rs144167138, rs1577170055, rs781623802, rs1722452431, rs1722814486, rs200560762, rs1715453232, rs1282621867, rs1284395468, rs758841632, rs999964757, rs1036371676, rs768380281, rs1715829134, rs1560180583, rs1717259479, rs1368193719, rs1391194715, rs1720937470, rs1721107398, rs1301855639, rs1715768907, rs769520928	RCV001377221 RCV001379523 RCV001379931 RCV001383513 RCV001391002 RCV001386071 RCV001389764 RCV001387985 RCV001389734 RCV001386541 RCV001382257 RCV001390304 RCV001389765 RCV003764801 RCV001449812 RCV001788525 RCV002592515 RCV001844342 RCV003781374 RCV002034560 RCV001965367 RCV001959620 RCV001990716 RCV001889169 RCV001991637 RCV001941732 RCV002019716 RCV001921224 RCV001917568 RCV001884555 RCV001944964 RCV001959706 RCV001954726 RCV002019155 RCV002002395 RCV002037810 RCV001916134 RCV001874892 RCV001896680 RCV001942081 RCV001917989 RCV001960740 RCV001974821 RCV002009459 RCV001950069 RCV001946943 RCV002030119 RCV001936430 RCV001963011 RCV001946640 RCV001871236 RCV001956412 RCV001951340 RCV001917353 RCV002010308 RCV001949568 RCV001949600 RCV001951546 RCV001895069 RCV001867050 RCV002227897 RCV002240134 RCV003099130 RCV002306501 RCV002306576 RCV002306589 RCV002306606 RCV002306640 RCV002306648 RCV002309558 RCV002309656 RCV002309770 RCV002309819 RCV002309834 RCV002309836 RCV002309841 RCV002309852 RCV002309853 RCV002309870 RCV002309893 RCV002309984 RCV002309989 RCV002307999 RCV002308112 RCV002308129 RCV002308141 RCV002308223 RCV002309021 RCV002309086 RCV002309118 RCV002309409 RCV002309524 RCV002306910 RCV002306988 RCV002307013 RCV002307070 RCV002307258 RCV002307278 RCV002310089 RCV002310130 RCV002310188 RCV002310223 RCV002310326 RCV002310500 RCV002310591 RCV002308395 RCV000003549 RCV000003550 RCV000003551 RCV000003552 RCV000003553 RCV000174810 RCV001205094 RCV002664334 RCV003105238 RCV003119024 RCV002593970 RCV002591000 RCV002631782 RCV002666958 RCV002666750 RCV002695998 RCV002796577 RCV002810214 RCV002833111 RCV002857024 RCV002866836 RCV002880783 RCV002885119 RCV002876818 RCV002871509 RCV002908238 RCV002971147 RCV002934077 RCV002971639 RCV002976184 RCV002972228 RCV003026355 RCV003029096 RCV000257943 RCV000258000 RCV003043403 RCV003059738 RCV003059631 RCV000672927 RCV003236248 RCV003330360 RCV001850474 RCV003444408 RCV000665483 RCV003785615 RCV003782332 RCV003785281 RCV003781028 RCV003790103 RCV003789139 RCV003789311 RCV003784776 RCV003792070 RCV003794670 RCV003807937 RCV003808108 RCV003806197 RCV003808315 RCV003806456 RCV003806960 RCV003791042 RCV003791366 RCV003805456 RCV003805858 RCV003805920 RCV003805997 RCV003803905 RCV003801559 RCV003799164 RCV003802900 RCV003803222 RCV003803359 RCV003801075 RCV003808178 RCV003808655 RCV003807099 RCV003807153 RCV003809356 RCV003804614 RCV003802430 RCV003813478 RCV003809653 RCV003810072 RCV003815496 RCV003815623 RCV003813321 RCV003813346 RCV003807428 RCV003807614 RCV003812420 RCV003812840 RCV003812861 RCV003812978 RCV003807251 RCV003805129 RCV003805204 RCV003812292 RCV003810211 RCV000670598 RCV000023641 RCV000023642 RCV001857266 RCV000673627 RCV001228575 RCV003766904 RCV000666197 RCV000667862 RCV002525122 RCV000549564 RCV000669358 RCV000672616 RCV000666009 RCV000665096 RCV000667995 RCV000671955 RCV000666938 RCV000672151 RCV000668731 RCV000669462 RCV000674937 RCV000669912 RCV000668916 RCV000670244 RCV000670299 RCV000672263 RCV000672674 RCV000673407 RCV000668452 RCV000672336 RCV000673978 RCV000670927 RCV000670534 RCV000669317 RCV000669199 RCV000668603 RCV000669730 RCV000674426 RCV000670205 RCV000670218 RCV000665358 RCV000671513 RCV000674180 RCV000670871 RCV000667301 RCV000665250 RCV000665893 RCV000667487 RCV000667298 RCV000672934 RCV000671776 RCV000671301 RCV000665329 RCV000666395 RCV000704338 RCV000698365 RCV000792528 RCV000801826 RCV000815558 RCV000812864 RCV000818984 RCV000809734 RCV001059845 RCV001039912 RCV001056093 RCV001049244 RCV001048066 RCV001060270 RCV001052472 RCV001059956 RCV001055590 RCV001052250 RCV001057263 RCV001220420 RCV001215334 RCV001222201 RCV001222202 RCV001206918 RCV001236098 RCV001235949 RCV001245792 RCV001267667 RCV001871668 RCV001304603	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EVC2-related disorder	Pathogenic; Likely pathogenic	rs750396637, rs200300612, rs376133710, rs761707323, rs763363403, rs999964757	RCV004751334 RCV003922532 RCV003979919 RCV003915444 RCV003420174 RCV003413868	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Pathogenic	rs769864196	RCV005901105	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Pathogenic; Likely pathogenic	rs750396637, rs1553815019, rs1553836165, rs761707323	RCV000515904 RCV000516027 RCV000515972 RCV000516039	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Likely pathogenic	rs1722942071	RCV005934941	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short-rib thoracic dysplasia 6 with or without polydactyly	Pathogenic	rs137852924, rs769864196	RCV000516144 RCV000515819	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs769799880	RCV005901463	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Type IV short rib polydactyly syndrome	Likely pathogenic; Pathogenic	rs376133710, rs769864196	RCV000516007 RCV000516102	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ACROFACIAL DYSOSTOSIS, WEYERS TYPE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	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
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJEWSKI SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel-Gruber syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME, BEEMER TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tooth agenesis, selective, 2	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
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
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
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
Amelogenesis imperfecta local hypoplastic form	Amelogenesis imperfecta	Pubtator	36672825	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	36672825	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	28027321		★☆☆☆☆ 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	28230599	Associate	★☆☆☆☆ 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
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	BEFREE	26035869		★☆☆☆☆ 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
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	BEFREE	28081373		★☆☆☆☆ Found in Text Mining only
Developmental Dysplasia of the Hip	Developmental dysplasia of the hip	Pubtator	36454308	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	12136126, 24733244, 28027321		★☆☆☆☆ Found in Text Mining only
Dysostoses	Dysostoses	LHGDN	16404586		★☆☆☆☆ 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, 20184732, 21199751, 23276573, 25908617, 29229899, 36672825, 36932784, 37107645, 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	BEFREE	12468274, 12571802, 17024374, 18454448, 19251731, 19810119, 21356043, 21533779, 21815252, 22986504, 23026208, 23220543, 25908617, 26621368, 26748586, 28857138, 28950429, 30410447		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	LHGDN	12468274, 12571802		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	CLINVAR_DG	12468274, 17024374, 19251731, 19810119, 19876929, 21199751, 21815252, 22190900, 22406498, 23026208, 23220543, 25525159, 26580685, 26748586, 26818569, 27280866		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	UNIPROT_DG	12468274, 12571802		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	ORPHANET_DG	12468274, 12571802, 22791528, 23220543		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	GENOMICS_ENGLAND_DG	16404586, 26818569		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	CLINGEN_DG	19251731, 23220543, 26219237, 28081373		★★★★★ 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
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	21356043, 22986504		★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxia	BEFREE	21533779		★☆☆☆☆ Found in Text Mining only
Hydrolethalus syndrome	Hydrolethalus syndrome	Pubtator	23276573	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	Pubtator	36672825	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
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Majewski Syndrome	Majewski Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	23169490	Associate	★☆☆☆☆ Found in Text Mining only
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	GWASCAT_DG	31220337		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	Pubtator	36672825	Associate	★☆☆☆☆ 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
Obesity	Obesity	Pubtator	36672825	Associate	★☆☆☆☆ Found in Text Mining only
Peg-shaped teeth	Peg-Shaped Teeth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	36672825	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	17392984, 23276573, 37684519	Associate	★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	BEFREE	21199751		★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Short rib-polydactyly syndrome, Beemer type	Short Rib-Polydactyly Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Stomach Neoplasms	Stomach neoplasms	Pubtator	36981021	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	24479926	Associate	★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	20087401		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Weyers acrofacial dysostosis	Weyers Acrofacial Dysostosis	BEFREE	16404586, 19876929, 21815252, 23220543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weyers acrofacial dysostosis	Weyers Acrofacial Dysostosis	ORPHANET_DG	16404586, 22791528, 23220543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weyers acrofacial dysostosis	Weyers Acrofacial Dysostosis	GENOMICS_ENGLAND_DG	16404586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weyers acrofacial dysostosis	Weyers Acrofacial Dysostosis	CLINVAR_DG	17024374, 19251731, 19810119, 19876929, 23220543		★★☆☆☆ 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