WDR19 (WD repeat domain 19)

Gene

• Entrez ID: 57728
• Gene name: WD repeat domain 19
• Gene symbol: WDR19
• Synonyms (NCBI Gene): ATD5, CED4, CFAP66, DYF-2, FAP66, IFT144, NPHP13, ORF26, Oseg6, PWDMP, SPGF72, SRTD5
• Chromosome: 4
• Chromosome location: 4p14
• Summary: The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 4

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs76599296	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs79436363	G>A	Pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs141039852	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs187546086	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs199904529	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs200266424	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs200339331	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs201597047	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs201685269	G>A,C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs201963605	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs374400438	A>G	Pathogenic	Splice acceptor variant
rs375644378	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs377160857	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs387906980	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs387906981	C>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs387906982	T>C	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs387906983	T>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777348	T>-,TT	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, frameshift variant
rs587777349	G>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587777350	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587777351	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs587777352	G>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs745603321	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs747165335	ACGG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs748656635	->A	Pathogenic, uncertain-significance	Frameshift variant, non coding transcript variant, coding sequence variant
rs751386429	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs757992911	C>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs771148519	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs772599282	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs774658703	A>G,T	Pathogenic	Splice acceptor variant
rs776687469	G>C,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs780847651	T>C	Likely-pathogenic	Splice donor variant
rs786204852	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs786205114	->A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs886039814	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886041912	G>A	Pathogenic	Splice donor variant
rs1064796985	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1064796986	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1191056931	G>A,C	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1215108056	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1237494778	T>C	Likely-pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1327583103	G>A	Pathogenic	Splice acceptor variant
rs1451698951	G>A	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1553905326	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553907440	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553918403	A>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1560541088	ATTGTTAGAGAGACCCAGTCTCTGGATGGAGCCAAAA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577822861	T>G	Pathogenic	Intron variant, stop gained, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1577823005	->A	Likely-pathogenic	Intron variant, 5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577943445	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017813	hsa-miR-335-5p	Microarray	18185580
MIRT049394	hsa-miR-92a-3p	CLASH	23622248
MIRT1489821	hsa-miR-1185	CLIP-seq
MIRT1489822	hsa-miR-132	CLIP-seq
MIRT1489823	hsa-miR-148a	CLIP-seq
MIRT1489824	hsa-miR-148b	CLIP-seq
MIRT1489825	hsa-miR-152	CLIP-seq
MIRT1489826	hsa-miR-1914	CLIP-seq
MIRT1489827	hsa-miR-212	CLIP-seq
MIRT1489828	hsa-miR-2467-3p	CLIP-seq
MIRT1489829	hsa-miR-3148	CLIP-seq
MIRT1489830	hsa-miR-3190	CLIP-seq
MIRT1489831	hsa-miR-3678-3p	CLIP-seq
MIRT1489832	hsa-miR-3679-5p	CLIP-seq
MIRT1489833	hsa-miR-574-5p	CLIP-seq
MIRT1489834	hsa-miR-626	CLIP-seq
MIRT1489835	hsa-miR-942	CLIP-seq
MIRT2368101	hsa-miR-3713	CLIP-seq
MIRT2368102	hsa-miR-4742-3p	CLIP-seq
MIRT2368103	hsa-miR-4768-5p	CLIP-seq
MIRT2368104	hsa-miR-579	CLIP-seq
MIRT2661616	hsa-miR-106a	CLIP-seq
MIRT2661617	hsa-miR-106b	CLIP-seq
MIRT2661618	hsa-miR-17	CLIP-seq
MIRT2661619	hsa-miR-185	CLIP-seq
MIRT2661620	hsa-miR-20a	CLIP-seq
MIRT2661621	hsa-miR-20b	CLIP-seq
MIRT2661622	hsa-miR-3661	CLIP-seq
MIRT2661623	hsa-miR-3678-5p	CLIP-seq
MIRT2661624	hsa-miR-371-3p	CLIP-seq
MIRT2661625	hsa-miR-3978	CLIP-seq
MIRT2661626	hsa-miR-4254	CLIP-seq
MIRT2661627	hsa-miR-4306	CLIP-seq
MIRT2661628	hsa-miR-4644	CLIP-seq
MIRT2661629	hsa-miR-4715-3p	CLIP-seq
MIRT2368103	hsa-miR-4768-5p	CLIP-seq
MIRT2661630	hsa-miR-4795-5p	CLIP-seq
MIRT2661631	hsa-miR-519d	CLIP-seq
MIRT2368104	hsa-miR-579	CLIP-seq
MIRT2661632	hsa-miR-619	CLIP-seq
MIRT2661633	hsa-miR-631	CLIP-seq
MIRT2661634	hsa-miR-93	CLIP-seq
MIRT2661616	hsa-miR-106a	CLIP-seq
MIRT2661617	hsa-miR-106b	CLIP-seq
MIRT2661618	hsa-miR-17	CLIP-seq
MIRT2661619	hsa-miR-185	CLIP-seq
MIRT2661620	hsa-miR-20a	CLIP-seq
MIRT2661621	hsa-miR-20b	CLIP-seq
MIRT2661622	hsa-miR-3661	CLIP-seq
MIRT2661623	hsa-miR-3678-5p	CLIP-seq
MIRT2661624	hsa-miR-371-3p	CLIP-seq
MIRT2661625	hsa-miR-3978	CLIP-seq
MIRT2661626	hsa-miR-4254	CLIP-seq
MIRT2661627	hsa-miR-4306	CLIP-seq
MIRT2661628	hsa-miR-4644	CLIP-seq
MIRT2661629	hsa-miR-4715-3p	CLIP-seq
MIRT2661630	hsa-miR-4795-5p	CLIP-seq
MIRT2661631	hsa-miR-519d	CLIP-seq
MIRT2661632	hsa-miR-619	CLIP-seq
MIRT2661633	hsa-miR-631	CLIP-seq
MIRT2661634	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005515	Function	Protein binding	IPI	27173435, 27932497, 28514442, 29220510, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	27806291
GO:0005929	Component	Cilium	TAS
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0008406	Process	Gonad development	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030991	Component	Intraciliary transport particle A	IBA
GO:0030991	Component	Intraciliary transport particle A	IDA	20889716, 27932497
GO:0030991	Component	Intraciliary transport particle A	IEA
GO:0030991	Component	Intraciliary transport particle A	IPI	27173435
GO:0031076	Process	Embryonic camera-type eye development	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0031514	Component	Motile cilium	ISS
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0032391	Component	Photoreceptor connecting cilium	ISS
GO:0035721	Process	Intraciliary retrograde transport	IBA
GO:0035721	Process	Intraciliary retrograde transport	IEA
GO:0035721	Process	Intraciliary retrograde transport	IMP	20889716
GO:0035721	Process	Intraciliary retrograde transport	NAS	27806291
GO:0042471	Process	Ear morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043113	Process	Receptor clustering	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0050877	Process	Nervous system process	IEA
GO:0055123	Process	Digestive system development	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	NAS	27806291
GO:0060831	Process	Smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA
GO:0061055	Process	Myotome development	IEA
GO:0065003	Process	Protein-containing complex assembly	IMP	27932497
GO:0072657	Process	Protein localization to membrane	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:0097730	Component	Non-motile cilium	IEA
GO:0097730	Component	Non-motile cilium	ISS
GO:1903441	Process	Protein localization to ciliary membrane	IMP	27932497

Other IDs

• MIM: 608151
• HGNC: 18340
• e!Ensembl: ENSG00000157796

Protein

• UniProt ID: Q8NEZ3
• Protein name: WD repeat-containing protein 19 (Intraflagellar transport 144 homolog)
• Protein function: As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in cilia function and/or assembly (PubMed:20889716). Essential for functio
• PDB: 8BBF, 8BBG, 8FGW, 8FH3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15911	WD40_3	508 → 564	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Some isoforms are tissue-specific. Highly expressed in the prostate. Lower expression in the cerebellum, pituitary gland, fetal lung, and pancreas. In normal prostate, expressed in both basal and luminal epithelial cells. No expression
• Sequence:

  MKRIFSLLEKTWLGAPIQFAWQKTSGNYLAVTGADYIVKIFDRHGQKRSEINLPGNCVAM
  DWDKDGDVLAVIAEKSSCIYLWDANTNKTSQLDNGMRDQMSFLLWSKVGSFLAVGTVKGN
  LLIYNHQTSRKIPVLGKHTKRITCGCWNAENLLALGGEDKMITVSNQEGDTIRQTQVRSE
  PSNMQFFLMKMDDRTSAAESMISVVLGKKTLFFLNLNEPDNPADLEFQQDFGNIVCYNWY
  GDGRIMIGFSCGHFVVISTHTGELGQEIFQARNHKDNLTSIAVSQTLNKVATCGDNCIKI
  QDLVDLKDMYVILNLDEENKGLGTLSWTDDGQLLALSTQRGSLHVFLTKLPILGDACSTR
  IAYLTSLLEVTVANPVEGELPITVSVDVEPNFVAVGLYHLAVGMNNRAWFYVLGENAVKK
  LKDMEYLGTVASICLHSDYAAALFEGKVQLHLIESEILDAQEERETRLFPAVDDKCRILC
  HALTSDFLIYGTDTGVVQYFYIEDWQFVNDYRHPVSVKKIFPDPNGTRLVFIDEKSDGFV
  YCPVNDATYEIPDFSPTIKGVLWENWPMDKGVFIAYDDDKVYTYVFHKDTIQGAKVILAG
  STKVPFAHKPLLLYNGELTCQTQSGKVNNIYLSTHGFLSNLKDTGPDELRPMLAQNLMLK
  RFSDAWEMCRILNDEAAWNELARACLHHMEVEFAIRVYRRIGNVGIVMSLEQIKGIEDYN
  LLAGHLAMFTNDYNLAQDLYLASSCPIAALEMRRDLQHWDSALQLAKHLAPDQIPFISKE
  YAIQLEFAGDYVNALAHYEKGITGDNKEHDEACLAGVAQMSIRMGDIRRGVNQALKHPSR
  VLKRDCGAILENMKQFSEAAQLYEKGLYYDKAASVYIRSKNWAKVGDLLPHVSSPKIHLQ
  YAKAKEADGRYKEAVVAYENAKQWQSVIRIYLDHLNNPEKAVNIVRETQSLDGAKMVARF
  FLQLGDYGSAIQFLVMSKCNNEAFTLAQQHNKMEIYADIIGSEDTTNEDYQSIALYFEGE
  KRYLQAGKFFLLCGQYSRALKHFLKCPSSEDNVAIEMAIETVGQAKDELLTNQLIDHLLG
  ENDGMPKDAKYLFRLYMALKQYREAAQTAIIIAREEQSAGNYRNAHDVLFSMYAELKSQK
  IKIPSEMATNLMILHSYILVKIHVKNGDHMKGARMLIRVANNISKFPSHIVPILTSTVIE
  CHRAGLKNSAFSFAAMLMRPEYRSKIDAKYKKKIEGMVRRPDISEIEEATTPCPFCKFLL
  PECELLCPGCKNSIPYCIATGRHMLKDDWTVCPHCDFPALYSELKIMLNTESTCPMCSER
  LNAAQLKKISDCTQYLRTEEEL

• Sequence length: 1342

Pathways

Reactome:

Hedgehog 'off' state
Intraflagellar transport

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
Asphyxiating thoracic dystrophy 5	Likely pathogenic; Pathogenic	rs1020915921, rs1221444922, rs756329385, rs753291151, rs778039192, rs1353172956, rs1730535406, rs2109377653, rs1421636172, rs775181779, rs587777348, rs587777351, rs79436363, rs587777352, rs2109497413, rs2109300967, rs2109299952, rs1273811425, rs2109405851, rs1232301082, rs1730514795, rs1401145684, rs1338996032, rs2109322692, rs1340305839, rs1446393665, rs1183249870, rs2475220370, rs2475202450, rs2475075477, rs556869079, rs2475320731, rs2475270352, rs2475315841, rs1334092486, rs886041912, rs1727874138, rs1232649308, rs1476588496, rs2475203506, rs2475185859, rs2475244297, rs2475219909, rs978366659, rs2475315582, rs2475315591, rs2475187976, rs1560557536, rs387906980, rs387906981, rs387906982, rs748656635, rs377160857, rs1215108056, rs1553918403, rs1191056931, rs1553907440, rs771148519, rs747165335, rs780847651, rs751290509, rs748174246, rs1577822861, rs1327583103, rs1577823005, rs1728876351, rs1727827349, rs926405916, rs1729264976, rs766616967, rs890152763, rs1730515128	RCV001970776 RCV001377034 RCV001379131 RCV001379466 RCV001383659 RCV001384582 RCV001386038 RCV001380200 RCV001536016 RCV002571163 RCV001854542 RCV001854544 RCV000653250 RCV001212609 RCV002024085 RCV002010585 RCV002050681 RCV001987849 RCV002007147 RCV001913249 RCV001946837 RCV002029683 RCV001890451 RCV001978430 RCV001981036 RCV003063595 RCV002585060 RCV002829532 RCV002862869 RCV002889379 RCV002876098 RCV002903042 RCV002937813 RCV003009720 RCV003013147 RCV003014757 RCV003037654 RCV001234299 RCV003785580 RCV003786262 RCV003789506 RCV003780680 RCV003794302 RCV003799591 RCV003805473 RCV003805719 RCV003806265 RCV003797459 RCV003802828 RCV003808526 RCV000987440 RCV001857362 RCV000023683 RCV001231474 RCV001851417 RCV001316218 RCV001851418 RCV005034059 RCV000653248 RCV002499193 RCV003768018 RCV000688346 RCV001387309 RCV001856174 RCV000987438 RCV000987439 RCV003769411 RCV001043448 RCV001211083 RCV001235420 RCV002251760 RCV002251761 RCV001880103 RCV001871671	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs587777352	RCV005887892	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone dystrophy	Likely pathogenic; Pathogenic	rs775181779	RCV001591895	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Connective tissue disorder	Likely pathogenic; Pathogenic	rs587777352, rs387906980	RCV002277157 RCV002276570	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranioectodermal dysplasia	Likely pathogenic; Pathogenic	rs79436363, rs886039814, rs771148519	RCV000754960 RCV000256446 RCV000754959	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranioectodermal dysplasia 4	Likely pathogenic; Pathogenic	rs1020915921, rs1353172956, rs1421636172, rs775181779, rs587777348, rs587777351, rs79436363, rs1401145684, rs2109322891, rs1237821935, rs886041912, rs1460409474, rs2475203506, rs387906980, rs387906981, rs748656635, rs377160857, rs1191056931, rs771148519, rs780847651, rs751290509, rs1327583103, rs1728876351	RCV005032046 RCV005038190 RCV001536016 RCV002501946 RCV002498492 RCV002477273 RCV003224150 RCV002503474 RCV002248395 RCV002248396 RCV002494812 RCV003234977 RCV005038507 RCV000023681 RCV000023682 RCV005027596 RCV005034058 RCV005034059 RCV002499193 RCV005034296 RCV002225117 RCV005036256 RCV002481903	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic	rs776416706	RCV005869779	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Likely pathogenic; Pathogenic	rs587777352, rs1553905326, rs748656635, rs377160857, rs1215108056, rs772599282, rs1191056931, rs745603321, rs747165335	RCV000516054 RCV000515976 RCV000515920 RCV000516052 RCV000516069 RCV000515874 RCV000515837 RCV000516083 RCV000754962	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs79436363	RCV001262101	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis 13	Likely pathogenic; Pathogenic	rs1020915921, rs1353172956, rs1421636172, rs775181779, rs587777348, rs587777350, rs587777351, rs79436363, rs587777352, rs1401145684, rs2109358597, rs886041912, rs2475127412, rs2475203506, rs2475082619, rs387906983, rs786205114, rs748656635, rs377160857, rs1191056931, rs771148519, rs780847651, rs751290509, rs1327583103, rs1728876351, rs1730093487, rs1729264976, rs1731221844	RCV005032046 RCV005038190 RCV001536016 RCV002501946 RCV002498492 RCV000115012 RCV000115013 RCV000850617 RCV001797626 RCV002503474 RCV002248394 RCV002494812 RCV003388671 RCV005038507 RCV004555796 RCV000023684 RCV000023685 RCV000850616 RCV005034058 RCV005034059 RCV002499193 RCV005034296 RCV005036110 RCV005036256 RCV002481903 RCV001175235 RCV001281113 RCV001281115	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal dysplasia and retinal aplasia	Likely pathogenic; Pathogenic	rs1020915921, rs387906980	RCV003324579 RCV003324499	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs751290509	RCV001074152	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Saldino-Mainzer syndrome	Likely pathogenic	rs1729264976, rs766616967	RCV001290087 RCV001290088	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Senior-Loken syndrome 8	Likely pathogenic; Pathogenic	rs1020915921, rs1221444922, rs756329385, rs753291151, rs778039192, rs1353172956, rs1730535406, rs2109377653, rs1421636172, rs775181779, rs587777348, rs587777351, rs79436363, rs587777352, rs2109497413, rs2109300967, rs2109299952, rs1273811425, rs2109405851, rs1232301082, rs1730514795, rs1401145684, rs1338996032, rs2109322692, rs1215108056, rs776416706, rs786204852, rs374400438, rs1340305839, rs1446393665, rs1183249870, rs2475220370, rs2475202450, rs2475075477, rs556869079, rs2475320731, rs2475270352, rs2475315841, rs1334092486, rs886039814, rs886041912, rs1727874138, rs1232649308, rs1476588496, rs2475203506, rs2475185859, rs2475244297, rs2475219909, rs978366659, rs2475315582, rs2475315591, rs2475187976, rs1560557536, rs387906980, rs387906981, rs748656635, rs377160857, rs1553918403, rs1191056931, rs1553907440, rs771148519, rs747165335, rs780847651, rs751290509, rs748174246, rs1327583103, rs1577823005, rs1728876351, rs1727827349, rs926405916, rs766616967, rs890152763, rs1730515128	RCV001970776 RCV001377034 RCV001379131 RCV001379466 RCV001383659 RCV001384582 RCV001386038 RCV001380200 RCV001536016 RCV002571163 RCV000115010 RCV001281118 RCV000115014 RCV000115015 RCV002024085 RCV002010585 RCV002050681 RCV001987849 RCV002007147 RCV001913249 RCV001946837 RCV002029683 RCV001890451 RCV001978430 RCV001981036 RCV002248393 RCV002288275 RCV000169776 RCV000169777 RCV003063595 RCV002585060 RCV002829532 RCV002862869 RCV002889379 RCV002876098 RCV002903042 RCV002937813 RCV003009720 RCV003013147 RCV003014757 RCV003037654 RCV000985142 RCV001234299 RCV003785580 RCV003786262 RCV003789506 RCV003780680 RCV003794302 RCV003799591 RCV003805473 RCV003805719 RCV003806265 RCV003797459 RCV003802828 RCV003808526 RCV000169775 RCV001857362 RCV000850616 RCV001851417 RCV001316218 RCV001851418 RCV005034059 RCV000653248 RCV002499193 RCV003768018 RCV000688346 RCV001387309 RCV001281117 RCV005036256 RCV003769411 RCV001043448 RCV001211083 RCV001235420 RCV001281116 RCV001880103 RCV001871671	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spermatogenic failure 72	Likely pathogenic; Pathogenic	rs1020915921, rs1353172956, rs775181779, rs587777348, rs587777351, rs79436363, rs1401145684, rs2109521864, rs886041912, rs2475203506, rs748656635, rs377160857, rs1191056931, rs771148519, rs780847651, rs751290509, rs1327583103, rs1728876351	RCV005032046 RCV005038190 RCV002501946 RCV002498492 RCV002477273 RCV005031600 RCV002503474 RCV002248399 RCV002494812 RCV005038507 RCV005027596 RCV005034058 RCV005034059 RCV002499193 RCV005034296 RCV005036110 RCV005036256 RCV002481903	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Type IV short rib polydactyly syndrome	Likely pathogenic; Pathogenic	rs1451698951, rs1553918403	RCV000515949 RCV000515847	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
WDR19-related disorder	Likely pathogenic; Pathogenic	rs1353172956, rs79436363, rs1273811425, rs387906980, rs748656635	RCV004734164 RCV005250018 RCV004542198 RCV004532400 RCV005250067	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPHYXIATING THORACIC DYSPLASIA JEUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome	Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROLI DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOECTODERMAL DYSPLASIA 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
JEUNE SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE NEPHRONOPHTHISIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAINZER-SALDINO DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 1	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS, FAMILIAL JUVENILE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-LOKEN SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-LOKEN SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME, BEEMER TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stargardt-like macular dystrophy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	23339108		★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Camurati-Engelmann Syndrome	Diaphyseal dysplasia	BEFREE	29220510		★☆☆☆☆ Found in Text Mining only
Caroli Disease	Caroli Disease	BEFREE	23559409, 25726036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Caroli Disease	Caroli disease	Pubtator	23559409	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Caroli Disease	Caroli Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic interstitial nephritis	Interstitial Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	22019273, 23683095, 24504730, 28621010, 29220510		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	22019273, 23559409, 23683095, 32055034, 33875766, 34354814, 36833411, 38062428	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranioectodermal dysplasia	Cranioectodermal Dysplasia	BEFREE	22019273, 29121203, 29220510		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranioectodermal Dysplasia	Craniodiaphyseal dysplasia	Pubtator	22019273, 32007091	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranioectodermal dysplasia	Cranioectodermal Dysplasia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranioectodermal dysplasia	Cranioectodermal Dysplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CRANIOECTODERMAL DYSPLASIA 1	Cranioectodermal Dysplasia	BEFREE	22019273, 29121203, 29220510		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOECTODERMAL DYSPLASIA 1	Cranioectodermal Dysplasia	ORPHANET_DG	22791528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOECTODERMAL DYSPLASIA 1	Cranioectodermal Dysplasia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOECTODERMAL DYSPLASIA 1	Cranioectodermal Dysplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOECTODERMAL DYSPLASIA 4	Cranioectodermal Dysplasia	GENOMICS_ENGLAND_DG	19430947, 22019273, 24504730		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRANIOECTODERMAL DYSPLASIA 4	Cranioectodermal Dysplasia	UNIPROT_DG	22019273		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRANIOECTODERMAL DYSPLASIA 4	Cranioectodermal Dysplasia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Craniosynostosis	Craniosynostosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	12477763		★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	36833411	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	32323121	Associate	★☆☆☆☆ Found in Text Mining only
Jeune syndrome	Jeune syndrome	Pubtator	22019273, 31935347	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune syndrome	Jeune Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	ORPHANET_DG	22019273, 22791528		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	BEFREE	25044745		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile nephronophthisis	Nephronophthisis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	10629072, 11579609, 12791871, 17690010, 21963664, 9123844, 9151873, 9520025		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	29121203		★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	22019273	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	22019273		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17380155		★☆☆☆☆ Found in Text Mining only
Liver cyst	Liver Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mainzer-Saldino Disease	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	BEFREE	29121203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18316561		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18316561		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11106236		★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	36833218	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	22019273, 24504730, 28621010		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Nephronophthisis	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Nephronophthisis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Nephronophthisis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 13	Nephronophthisis	UNIPROT_DG	22019273		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 13	Nephronophthisis	CLINVAR_DG	23559409, 23683095, 25726036, 27596865		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 13	Nephronophthisis	GENOMICS_ENGLAND_DG	24504730		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 13	Nephronophthisis	BEFREE	25726036		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	22019273, 38589766	Associate	★☆☆☆☆ Found in Text Mining only
Nephronophthisis, familial juvenile	Nephronophthisis	ORPHANET_DG	22019273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	Pubtator	38589766	Associate	★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	29121203		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18316561		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18316561		★☆☆☆☆ Found in Text Mining only
Pyogenic granuloma	Pyogenic granuloma	BEFREE	15113862		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	28621010		★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	BEFREE	23683095, 24504730		★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	ORPHANET_DG	23683095		★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	22019273		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	23683095, 33946315	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	24504730, 25044745		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senior Loken Syndrome	Senior-loken syndrome	Pubtator	23683095	Associate	★☆☆☆☆ Found in Text Mining only
Senior-Loken syndrome	Senior-Loken Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-LOKEN SYNDROME 8	Senior-Loken Syndrome	CLINVAR_DG	22019273, 23559409, 23683095, 25726036, 27596865, 28621010		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SENIOR-LOKEN SYNDROME 8	Senior-Loken Syndrome	UNIPROT_DG	23559409, 23683095		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SENIOR-LOKEN SYNDROME 8	Senior-Loken Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short rib-polydactyly syndrome, Beemer type	Short Rib-Polydactyly Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY	Short Rib-Polydactyly Syndrome	GENOMICS_ENGLAND_DG	19430947, 22019273, 24504730		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY	Short Rib-Polydactyly Syndrome	CLINVAR_DG	22019273, 23559409, 23683095, 25726036, 27596865, 28621010		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY	Short Rib-Polydactyly Syndrome	UNIPROT_DG	22019273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	BEFREE	23683095		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stargardt Disease	Stargardt disease	Pubtator	32055034, 36833218, 36833411	Associate	★☆☆☆☆ Found in Text Mining only
Stargardt disease 3	Stargardt disease	Pubtator	36833218	Associate	★☆☆☆☆ 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
Syndactyly, type 2	Syndactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracic dysplasia	Thoracic dysplasia	HPO_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