OFD1 (OFD1 centriole and centriolar satellite protein)

Gene

• Entrez ID: 8481
• Gene name: OFD1 centriole and centriolar satellite protein
• Gene symbol: OFD1
• Synonyms (NCBI Gene): 71-7A, CXorf5, JBTS10, RP23, SGBS2
• Chromosome: X
• Chromosome location: Xp22.2
• Summary: This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not su

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs122460150	A>C	Pathogenic	Coding sequence variant, missense variant
rs139444990	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, upstream transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs143954823	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Missense variant, coding sequence variant
rs199902986	A>G	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, intron variant, splice acceptor variant
rs201675886	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, 5 prime UTR variant, coding sequence variant, synonymous variant
rs312262819	T>C	Pathogenic	Genic upstream transcript variant, intron variant, 5 prime UTR variant, coding sequence variant, missense variant
rs312262820	A>G	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, genic upstream transcript variant
rs312262821	TGGTTTGGCAAAAGAAAAG>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262822	G>-	Pathogenic	Splice donor variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262823	->G	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, splice acceptor variant
rs312262825	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained
rs312262826	C>G,T	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, synonymous variant
rs312262827	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, genic upstream transcript variant
rs312262828	C>G	Pathogenic	Intron variant, genic upstream transcript variant
rs312262829	A>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs312262830	GAAA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262831	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262832	T>-	Pathogenic	Splice donor variant, genic upstream transcript variant
rs312262833	T>C,G	Pathogenic	Intron variant, genic upstream transcript variant
rs312262834	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262835	T>A	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained
rs312262836	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained
rs312262837	AAAGC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262838	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262839	ATAGAA>-	Pathogenic	Inframe deletion, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262840	GA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262841	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained
rs312262842	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262844	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262845	AA>-,A,AAA	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262846	AAAAGTATGAAAA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262849	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262850	->G	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262851	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained
rs312262852	AA>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs312262853	AGAAA>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs312262855	AA>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs312262856	G>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs312262857	A>G,T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, missense variant
rs312262858	AT>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs312262859	->GA	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs312262860	G>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs312262861	A>G,T	Pathogenic	5 prime UTR variant, intron variant, splice acceptor variant
rs312262862	GAAGGATG>TTTTTCCT	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, intron variant
rs312262863	C>G,T	Uncertain-significance, pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, stop gained, missense variant
rs312262865	AATT>-	Pathogenic	Intron variant
rs312262866	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, intron variant
rs312262867	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, intron variant
rs312262868	AATC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, intron variant
rs312262869	AGG>-	Pathogenic	Splice donor variant, 5 prime UTR variant, coding sequence variant, intron variant
rs312262870	G>-	Pathogenic	Splice donor variant, 5 prime UTR variant, coding sequence variant, intron variant
rs312262871	AAAAC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs312262872	C>-	Pathogenic	Coding sequence variant, stop gained
rs312262873	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262874	AAGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262875	AGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262876	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262877	T>A	Pathogenic	Coding sequence variant, stop gained
rs312262878	CTTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262879	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262880	C>T	Pathogenic	Coding sequence variant, stop gained
rs312262881	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262882	AGAACTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262883	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262884	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262885	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262886	->TA	Pathogenic	Frameshift variant, coding sequence variant
rs312262887	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262888	->A	Pathogenic	Frameshift variant, coding sequence variant
rs312262889	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262890	AAAG>-,AAAGAAAG	Pathogenic	Frameshift variant, coding sequence variant
rs312262891	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262892	G>T	Pathogenic	Splice acceptor variant
rs312262893	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262894	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262895	AGACAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs397507557	AAAGTCT>-	Pathogenic	Splice donor variant, genic upstream transcript variant, intron variant
rs397507558	TAA>-	Pathogenic	Splice donor variant, genic upstream transcript variant, intron variant
rs397515380	ACACTTGGGCTCAA>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant
rs398122866	TTAAAATGGAAGCAAAAA>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, inframe deletion, coding sequence variant
rs398123809	A>C	Pathogenic	Splice acceptor variant
rs398123810	->CT	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant
rs587784231	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs730880283	A>G	Pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant
rs746612831	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs749448671	AA>-,AAA	Uncertain-significance, pathogenic	5 prime UTR variant, intron variant, frameshift variant, coding sequence variant
rs769923969	C>G,T	Likely-pathogenic	Intron variant
rs780268478	A>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, frameshift variant, intron variant, coding sequence variant
rs797044917	T>C	Likely-pathogenic	Genic upstream transcript variant, missense variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs797044945	TAAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225211	G>T	Pathogenic	Genic upstream transcript variant, intron variant, missense variant, 5 prime UTR variant, coding sequence variant
rs863225212	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039813	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs886039859	CT>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, intron variant, frameshift variant, coding sequence variant
rs886039860	T>C,G	Pathogenic	Genic upstream transcript variant, initiator codon variant, missense variant, 5 prime UTR variant, coding sequence variant
rs886039861	GA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs886039862	G>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs886039863	->G	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs886039864	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039865	->C	Pathogenic	Frameshift variant, coding sequence variant
rs886041992	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518526	->T	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1060500123	C>T	Pathogenic	Coding sequence variant, stop gained
rs1131691619	GT>-	Pathogenic	Splice donor variant, intron variant
rs1131691889	GAT>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, inframe deletion, 5 prime UTR variant
rs1555901137	T>A	Pathogenic	Missense variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1555901146	C>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1555901169	G>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1555902640	->A	Pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1555902797	A>G	Likely-pathogenic	Intron variant, genic upstream transcript variant
rs1555902866	G>T	Pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1555904005	C>T	Likely-pathogenic	Intron variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1555904480	AACTT>-	Likely-pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1555906894	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555907034	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569102786	G>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1569122408	A>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1569128307	AA>-	Pathogenic	Coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant
rs1569141500	C>G	Pathogenic	Coding sequence variant, stop gained
rs1569145145	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569162748	AAATT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569163423	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1569164733	G>T	Pathogenic	Coding sequence variant, stop gained
rs1569164829	G>T	Pathogenic	Coding sequence variant, stop gained
rs1602826217	AG>TATA	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1602904530	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602942625	AAAAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029155	hsa-miR-26b-5p	Microarray	19088304
MIRT050901	hsa-miR-17-5p	CLASH	23622248
MIRT2286724	hsa-miR-1253	CLIP-seq
MIRT2286725	hsa-miR-4434	CLIP-seq
MIRT2286726	hsa-miR-4516	CLIP-seq
MIRT2286727	hsa-miR-4531	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	ISS
GO:0005515	Function	Protein binding	IPI	17761535, 19800048, 20835237, 21988832, 23789104, 24089205, 24997988, 26496610, 26638075, 33368531, 33934390
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614, 33934390
GO:0005814	Component	Centriole	IDA	20230748
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	20230748
GO:0005929	Component	Cilium	IEA
GO:0007099	Process	Centriole replication	ISS
GO:0010172	Process	Embryonic body morphogenesis	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030030	Process	Cell projection organization	IEA
GO:0031514	Component	Motile cilium	IBA
GO:0034451	Component	Centriolar satellite	IEA
GO:0034451	Component	Centriolar satellite	ISS
GO:0035082	Process	Axoneme assembly	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	33934390
GO:0036064	Component	Ciliary basal body	IDA	20230748
GO:0036064	Component	Ciliary basal body	IEA
GO:0042802	Function	Identical protein binding	IPI	17761535
GO:0042995	Component	Cell projection	IEA
GO:0043014	Function	Alpha-tubulin binding	IEA
GO:0043014	Function	Alpha-tubulin binding	ISS
GO:0043015	Function	Gamma-tubulin binding	IEA
GO:0043015	Function	Gamma-tubulin binding	ISS
GO:0060090	Function	Molecular adaptor activity	IMP	19800048
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	33934390
GO:0060271	Process	Cilium assembly	ISS
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IEA
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	ISS
GO:0090307	Process	Mitotic spindle assembly	ISS
GO:2000314	Process	Negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation	IEA

Other IDs

• MIM: 300170
• HGNC: 2567
• e!Ensembl: ENSG00000046651

Protein

• UniProt ID: O75665
• Protein name: Centriole and centriolar satellite protein OFD1 (Oral-facial-digital syndrome 1 protein) (Protein 71-7A)
• Protein function: Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164 (By similarity). Involved in the biogenesis of the cilium, a centrio
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16045	LisH_2	74 → 101	LisH	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed in 9 and 14 weeks old embryos in metanephric mesenchyme, oral mucosa, lung, heart, nasal and cranial cartilage, and brain. Expressed in metanephros, brain, tongue, and limb. {ECO:0000269|PubMed:12595504}.
• Sequence:

  MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPR
  SISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPT
  SSLYKSLVSGSDKENQKGFLMHFLKELAEYHQAKESCNMETQTSSTFNRDSLAEKLQLID
  DQFADAYPQRIKFESLEIKLNEYKREIEEQLRAEMCQKLKFFKDTEIAKIKMEAKKKYEK
  ELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETKEIYAQRQLLLKDMDLLRGRE
  AELKQRVEAFELNQKLQEEKHKSITEALRRQEQNIKSFEETYDRKLKNELLKYQLELKDD
  YIIRTNRLIEDERKNKEKAVHLQEELIAINSKKEELNQSVNRVKELELELESVKAQSLAI
  TKQNHMLNEKVKEMSDYSLLKEEKLELLAQNKLLKQQLEESRNENLRLLNRLAQPAPELA
  VFQKELRKAEKAIVVEHEEFESCRQALHKQLQDEIEHSAQLKAQILGYKASVKSLTTQVA
  DLKLQLKQTQTALENEVYCNPKQSVIDRSVNGLINGNVVPCNGEISGDFLNNPFKQENVL
  ARMVASRITNYPTAWVEGSSPDSDLEFVANTKARVKELQQEAERLEKAFRSYHRRVIKNS
  AKSPLAAKSPPSLHLLEAFKNITSSSPERHIFGEDRVVSEQPQVGTLEERNDVVEALTGS
  AASRLRGGTSSRRLSSTPLPKAKRSLESEMYLEGLGRSHIASPSPCPDRMPLPSPTESRH
  SLSIPPVSSPPEQKVGLYRRQTELQDKSEFSDVDKLAFKDNEEFESSFESAGNMPRQLEM
  GGLSPAGDMSHVDAAAAAVPLSYQHPSVDQKQIEEQKEEEKIREQQVKERRQREERRQSN
  LQEVLERERRELEKLYQERKMIEESLKIKIKKELEMENELEMSNQEIKDKSAHSENPLEK
  YMKIIQQEQDQESADKSSKKMVQEGSLVDTLQSSDKVESLTGFSHEELDDSW

• Sequence length: 1012

Pathways

Reactome:

Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Hedgehog 'off' state
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2

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
Cerebellar vermis hypoplasia	Likely pathogenic	rs2047914412	RCV001391275	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COACH syndrome	Pathogenic	rs312262845	RCV002463622	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome	Pathogenic; Likely pathogenic	rs312262809, rs2147082213, rs2147016815, rs2146984250, rs2518886212, rs2518940054, rs750227810, rs797044945, rs2518959653, rs863225212, rs983722470, rs766872363, rs1252017658, rs2518759610, rs2518924877, rs1397283663, rs2518886198, rs2518857883, rs2518777731, rs2518758535, rs1060500123, rs769923969, rs1555902640, rs312262863, rs312262868, rs312262810, rs312262869, rs312262818, rs312262830, rs312262840, rs312262845, rs312262858, rs312262890, rs1555902866, rs1569128307, rs1569141500, rs1569102786, rs1569164829, rs1569164733, rs1569163423, rs2047298129, rs2047883109, rs2047318775	RCV001380141 RCV001387144 RCV001977855 RCV001946980 RCV005215922 RCV003064670 RCV002596430 RCV000688416 RCV002862271 RCV001383220 RCV003055752 RCV003782318 RCV003808198 RCV003805461 RCV003805472 RCV003803794 RCV003795182 RCV003809322 RCV003801994 RCV003815369 RCV000465580 RCV000533164 RCV000536651 RCV002514145 RCV005222714 RCV001383219 RCV003050589 RCV000687996 RCV001045035 RCV003041423 RCV000701027 RCV001852687 RCV000638945 RCV000638944 RCV000697557 RCV000706240 RCV000706155 RCV000758012 RCV000758013 RCV000758014 RCV001054764 RCV001234156 RCV001239727	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 10	Pathogenic; Likely pathogenic	rs2147027077, rs2147060430, rs863225211, rs863225212, rs312262895, rs312262894, rs2518939102, rs1131691889, rs398122866, rs312262868, rs312262810, rs312262830, rs312262845, rs2047914412, rs2047299277	RCV001535950 RCV001806695 RCV000201699 RCV000201562 RCV000012300 RCV000012301 RCV003337711 RCV003152713 RCV000029157 RCV002504861 RCV002496509 RCV000590449 RCV002482947 RCV001253756 RCV001255998	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kidney failure	Pathogenic	rs2518924877	RCV005626862	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OFD1-related disorder	Likely pathogenic; Pathogenic	rs2518778078, rs2518821166, rs1060500123, rs312262871, rs312262845	RCV004723318 RCV004534484 RCV002279956 RCV004531568 RCV004737169 RCV004737170	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Orofacial-digital syndrome III	Pathogenic	rs886039813	RCV000256422	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orofaciodigital syndrome I	Likely pathogenic; Pathogenic	rs2047796952, rs312262809, rs2147082213, rs2147027077, rs2147060461, rs2146913390, rs2147016815, rs2146984250, rs2518911065, rs2518886212, rs2518940054, rs750227810, rs797044945, rs2518959653, rs863225212, rs983722470, rs180882901, rs886039813, rs122460150, rs312262822, rs312262833, rs312262886, rs312262890, rs2518776413, rs2518778078, rs766872363, rs1252017658, rs2518759610, rs2518924877, rs1397283663, rs2518886198, rs2518857883, rs2518777731, rs2518758535, rs312262840, rs2518937760, rs2518924222, rs1060500123, rs769923969, rs1555902640, rs312262863, rs312262868, rs312262810, rs312262869, rs312262871, rs312262887, rs312262818, rs312262821, rs312262830, rs312262834, rs312262845, rs312262852, rs312262858, rs1555901146, rs1555902866, rs1555900675, rs1555900734, rs1555901137, rs1555901169, rs1555904480, rs1569145145, rs1569128307, rs1569141500, rs1569102786, rs1602904530, rs1602826217, rs1602942625, rs2047298129, rs2047724604, rs2047883109, rs2047318775, rs2047910158	RCV001331084 RCV001380141 RCV001387144 RCV001535950 RCV001808142 RCV001808180 RCV001977855 RCV001946980 RCV003992627 RCV005215922 RCV003064670 RCV002596430 RCV000688416 RCV002862271 RCV001383220 RCV003055752 RCV003223605 RCV004760471 RCV000012293 RCV000012294 RCV000012296 RCV000012297 RCV000033991 RCV003232908 RCV003444082 RCV003782318 RCV003808198 RCV003805461 RCV003805472 RCV003803794 RCV003795182 RCV003809322 RCV003801994 RCV003815369 RCV003990328 RCV004545917 RCV004556918 RCV000465580 RCV000533164 RCV000536651 RCV000033955 RCV002504861 RCV001383219 RCV003050589 RCV005603828 RCV004786290 RCV000687996 RCV000034007 RCV000850574 RCV000034022 RCV003041423 RCV000701027 RCV002272036 RCV002290162 RCV000034052 RCV000623454 RCV000638945 RCV000638944 RCV000677724 RCV000677725 RCV000677727 RCV000677728 RCV000677729 RCV000680173 RCV000697557 RCV000706240 RCV000706155 RCV000985086 RCV001027698 RCV001029766 RCV001054764 RCV001171313 RCV001234156 RCV001239727 RCV001293678	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polymicrogyria	Likely pathogenic	rs2047914412	RCV001391275	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs2147082213, rs2147086302, rs2147086315, rs2518777923, rs2518886212, rs797044945, rs2518857883, rs1060500123, rs312262868, rs1569122408, rs1569162748, rs1569164829, rs1569164733, rs1569163423, rs2047909739	RCV005692338 RCV001849688 RCV001849689 RCV004050436 RCV004062317 RCV001849335 RCV004093809 RCV003448908 RCV004821966 RCV004026883 RCV000757955 RCV000758012 RCV000758013 RCV000758014 RCV001255273	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Respiratory ciliopathies including non-CF bronchiectasis	Pathogenic	rs1060500123	RCV005252898	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs863225212	RCV003888641	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 23	Pathogenic	rs730880283, rs2147027077, rs312262868, rs312262810, rs312262830, rs312262845	RCV000087736 RCV001535950 RCV002504861 RCV002496509 RCV002482946 RCV002482947	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Simpson-Golabi-Behmel syndrome	Pathogenic	rs312262845	RCV004798753	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Simpson-Golabi-Behmel syndrome type 2	Pathogenic; Likely pathogenic	rs2147027077, rs2146970113, rs1019055469, rs312262890, rs312262868, rs312262810, rs312262830, rs312262845, rs2047747647	RCV001535950 RCV002250165 RCV003142471 RCV000012299 RCV002504861 RCV002496509 RCV000850574 RCV002482947 RCV001194622	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs2147027077, rs1569102786	RCV005914516 RCV005901745	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventriculomegaly	Likely pathogenic	rs2047914412	RCV001391275	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal nail morphology	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bifid nail	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CAKUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cerebellar hypoplasia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED JOUBERT SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OFD1-related ciliopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME TYPE 6	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTO-PALATO-DIGITAL SYNDROME TYPE 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral precocious puberty	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly, postaxial, type A1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rare genetic intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ridged nail	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIMPSON GOLABI BEHMEL SYNDROME TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anodontia of Permanent Dentition	Anodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32193494	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	36833254	Associate	★☆☆☆☆ Found in Text Mining only
Bardet-Biedl syndrome 4 (disorder)	Bardet-Biedl Syndrome	BEFREE	24691443		★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	Pubtator	31243241	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	25180832	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19587378	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	39180133, 39766900	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	CLINGEN_DG	16311594, 16397067, 19800048, 24089205		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	BEFREE	22619378, 23033313, 26643951, 27798113, 28371265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	22619378, 23033313, 35398350, 35764379	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Palate	Cleft palate	Pubtator	22723972	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	36833254	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	18971206, 22548404		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28371265		★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	25180832	Associate	★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	19876934, 28450740, 29520754		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	15466260		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	19876934		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36833254	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG	16783569, 18546297, 23036093, 24884629, 25356970, 27081566, 28289185		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	19800048, 22353940, 22619378, 23033313, 30895720		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial paroxysmal dystonia	Paroxysmal dystonia	Pubtator	25180832	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	18971206		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	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
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothalamic hamartomas	Hypothalamic Hamartomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16783569, 31373179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	LHGDN	16783569		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert Syndrome 10	Joubert syndrome	Pubtator	23033313, 30581852	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 10 (disorder)	Joubert syndrome	GENOMICS_ENGLAND_DG	11179005, 19800048, 22353940, 23036093, 28173652		★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 10 (disorder)	Joubert syndrome	CLINVAR_DG	18546297, 24884629, 26092869		★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 10 (disorder)	Joubert syndrome	UNIPROT_DG	19800048, 26477546		★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 10 (disorder)	Joubert syndrome	BEFREE	22353940, 23033313		★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 10 (disorder)	Joubert syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Joubert syndrome 2	Joubert syndrome	Pubtator	23033313	Associate	★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	31373179		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	25180832	Associate	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	36833254	Associate	★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	22619378	Associate	★☆☆☆☆ 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
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	16783569		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16783569		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	BEFREE	27913686		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	19587378		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10892847, 15466260, 16311594, 16783569, 18546297, 19396822, 19800048, 19876934, 22353940, 22619378, 23033313, 24884629, 25238977, 27081566		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	19587378		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19587378	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndrome I	Orofaciodigital Syndrome	BEFREE	11179005, 19800048, 20230748, 20835237, 21729220, 22723972, 26643951, 31373179		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Orofaciodigital Syndrome I	Orofaciodigital Syndrome	UNIPROT_DG	11179005, 11950863, 12595504, 16397067, 23033313		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Orofaciodigital Syndrome I	Orofaciodigital Syndrome	CLINVAR_DG	18546297		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Orofaciodigital Syndrome I	Orofaciodigital Syndrome	GENOMICS_ENGLAND_DG	19800048, 22353940, 23036093		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Orofaciodigital syndrome type 1	Orofaciodigital Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital syndrome type 6	Orofaciodigital Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital syndrome type1	Orofaciodigital Syndrome	BEFREE	15466260, 19876934, 21729220, 22548404, 24712474, 28371265		★☆☆☆☆ Found in Text Mining only
Orofaciodigital syndrome type1	Orofaciodigital Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndromes	Orofaciodigital syndrome	Pubtator	11179005, 19587378, 22619378, 23033313, 24997988, 26593159, 31243241, 35398350, 39766900	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital Syndromes	Orofaciodigital syndrome	BEFREE	12119212, 20230748, 20835237, 21729220, 22619378, 22723972, 23033313, 26643951, 30895720		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital Syndromes	Orofaciodigital syndrome	Pubtator	36833254	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital Syndromes	Orofaciodigital syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteofibrous Dysplasia	Osteofibrous Dysplasia	BEFREE	23972372, 24997988, 26044959, 9482645		★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oto-Palato-digital syndrome type 1	Oto-Palato-digital syndrome	CTD_human_DG	16783569		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Cysts	Ovarian Cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	18971206		★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	BEFREE	26147564		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	36833254	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	25180832	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	18971206		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	25180832, 31243241	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	29520754		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polynesian Bronchiectasis	Kartagener syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	31373179		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	23033313	Associate	★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	22619378	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	ORPHANET_DG	22619378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	29843741	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	31373179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa 2	Retinitis pigmentosa	Pubtator	22619378, 40119724	Associate	★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simpson Golabi Behmel Syndrome Type 2	Simpson-golabi-behmel syndrome	Pubtator	22619378, 23033313, 39766900	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)	Simpson-Golabi-Behmel Syndrome	GENOMICS_ENGLAND_DG	11179005, 19800048, 23036093		★☆☆☆☆ Found in Text Mining only
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)	Simpson-Golabi-Behmel Syndrome	CLINVAR_DG	18546297		★☆☆☆☆ Found in Text Mining only
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)	Simpson-Golabi-Behmel Syndrome	BEFREE	19800048, 23033313, 31366608, 31373179		★☆☆☆☆ Found in Text Mining only
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)	Simpson-Golabi-Behmel Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spade-like hand	Spade-Like Hand	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 29	Spinocerebellar ataxia	Pubtator	23033313	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	30581852	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	38139355	Inhibit	★☆☆☆☆ Found in Text Mining only
X-linked retinitis pigmentosa	Retinitis Pigmentosa, X-Linked	BEFREE	22619378		★☆☆☆☆ Found in Text Mining only