IFT140 (intraflagellar transport 140)

Gene

• Entrez ID: 9742
• Gene name: Intraflagellar transport 140
• Gene symbol: IFT140
• Synonyms (NCBI Gene): CED5, MZSDS, PKD9, RP80, SRTD9, WDTC2, c305C8.4, c380F5.1, gs114
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surfa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35823417	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, synonymous variant, missense variant, coding sequence variant
rs137925718	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant, genic upstream transcript variant
rs141542834	G>A,T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs141779807	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs144028766	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs144513458	G>C	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs144726977	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs145549969	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs146172074	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs199826737	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, intron variant
rs201384469	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs372233286	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs374661866	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs376586707	C>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs387907192	C>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs431905520	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs554196965	G>A,C	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs559371453	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs587776909	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs746697405	TTGGCC>-,TTGGCCTTGGCC	Uncertain-significance, likely-pathogenic	Inframe insertion, genic downstream transcript variant, inframe deletion, coding sequence variant
rs764770536	C>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs766084603	->GCCC	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs777889289	C>A,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs779007169	C>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs794727473	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1002670900	G>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, synonymous variant
rs1057518064	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1417500285	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1423102192	C>T	Pathogenic	Genic downstream transcript variant, intron variant
rs1555474009	->TAGG	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555486629	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1555487977	TATT>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567327347	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567330535	G>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038876	hsa-miR-93-3p	CLASH	23622248
MIRT572795	hsa-miR-22-3p	PAR-CLIP	20371350
MIRT572794	hsa-miR-3681-5p	PAR-CLIP	20371350
MIRT572793	hsa-miR-6849-5p	PAR-CLIP	20371350
MIRT572791	hsa-miR-6080	PAR-CLIP	20371350
MIRT572792	hsa-miR-558	PAR-CLIP	20371350
MIRT572790	hsa-miR-4633-3p	PAR-CLIP	20371350
MIRT572789	hsa-miR-6500-5p	PAR-CLIP	20371350
MIRT572788	hsa-miR-6874-5p	PAR-CLIP	20371350
MIRT572795	hsa-miR-22-3p	PAR-CLIP	20371350
MIRT572794	hsa-miR-3681-5p	PAR-CLIP	20371350
MIRT572793	hsa-miR-6849-5p	PAR-CLIP	20371350
MIRT572791	hsa-miR-6080	PAR-CLIP	20371350
MIRT572792	hsa-miR-558	PAR-CLIP	20371350
MIRT572790	hsa-miR-4633-3p	PAR-CLIP	20371350
MIRT572789	hsa-miR-6500-5p	PAR-CLIP	20371350
MIRT572788	hsa-miR-6874-5p	PAR-CLIP	20371350
MIRT1060996	hsa-miR-3202	CLIP-seq
MIRT1060997	hsa-miR-4287	CLIP-seq
MIRT1060998	hsa-miR-4685-3p	CLIP-seq
MIRT1060999	hsa-miR-4743	CLIP-seq
MIRT1061000	hsa-miR-541	CLIP-seq
MIRT1061001	hsa-miR-654-5p	CLIP-seq
MIRT1060996	hsa-miR-3202	CLIP-seq
MIRT1060997	hsa-miR-4287	CLIP-seq
MIRT1060998	hsa-miR-4685-3p	CLIP-seq
MIRT2014242	hsa-miR-103a	CLIP-seq
MIRT2014243	hsa-miR-107	CLIP-seq
MIRT2014244	hsa-miR-1184	CLIP-seq
MIRT2014245	hsa-miR-1205	CLIP-seq
MIRT2014246	hsa-miR-15a	CLIP-seq
MIRT2014247	hsa-miR-15b	CLIP-seq
MIRT2014248	hsa-miR-16	CLIP-seq
MIRT2014249	hsa-miR-1909	CLIP-seq
MIRT2014250	hsa-miR-1912	CLIP-seq
MIRT2014251	hsa-miR-195	CLIP-seq
MIRT2014252	hsa-miR-22	CLIP-seq
MIRT2014253	hsa-miR-3158-5p	CLIP-seq
MIRT1060996	hsa-miR-3202	CLIP-seq
MIRT2014254	hsa-miR-3665	CLIP-seq
MIRT2014255	hsa-miR-3681	CLIP-seq
MIRT2014256	hsa-miR-424	CLIP-seq
MIRT1060997	hsa-miR-4287	CLIP-seq
MIRT1060998	hsa-miR-4685-3p	CLIP-seq
MIRT2014257	hsa-miR-4736	CLIP-seq
MIRT2014258	hsa-miR-486-3p	CLIP-seq
MIRT2014259	hsa-miR-497	CLIP-seq
MIRT2014260	hsa-miR-532-5p	CLIP-seq
MIRT2014261	hsa-miR-544	CLIP-seq
MIRT2014262	hsa-miR-764	CLIP-seq
MIRT2014245	hsa-miR-1205	CLIP-seq
MIRT2246458	hsa-miR-3150a-3p	CLIP-seq
MIRT2246459	hsa-miR-3175	CLIP-seq
MIRT1060996	hsa-miR-3202	CLIP-seq
MIRT2246460	hsa-miR-3664-3p	CLIP-seq
MIRT2246461	hsa-miR-4267	CLIP-seq
MIRT1060997	hsa-miR-4287	CLIP-seq
MIRT1060998	hsa-miR-4685-3p	CLIP-seq
MIRT2246462	hsa-miR-939	CLIP-seq
MIRT1060997	hsa-miR-4287	CLIP-seq
MIRT1060998	hsa-miR-4685-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27173435, 27932497, 29220510
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005813	Component	Centrosome	IDA	23418020
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	27932497
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	27806291
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	ISS
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0021532	Process	Neural tube patterning	IEA
GO:0030030	Process	Cell projection organization	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:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035721	Process	Intraciliary retrograde transport	IBA
GO:0035721	Process	Intraciliary retrograde transport	IEA
GO:0035721	Process	Intraciliary retrograde transport	IEA
GO:0035721	Process	Intraciliary retrograde transport	IMP	22503633
GO:0035721	Process	Intraciliary retrograde transport	NAS	27806291
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	22503633
GO:0036064	Component	Ciliary basal body	IEA
GO:0042073	Process	Intraciliary transport	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	28724397
GO:0060271	Process	Cilium assembly	NAS	27806291
GO:0061512	Process	Protein localization to cilium	IMP	20889716
GO:0061512	Process	Protein localization to cilium	IMP	22503633
GO:0097542	Component	Ciliary tip	TAS
GO:0097730	Component	Non-motile cilium	IEA
GO:0120199	Component	Cone photoreceptor outer segment	IEA
GO:1902017	Process	Regulation of cilium assembly	IMP	22503633
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1990403	Process	Embryonic brain development	IEA

Other IDs

• MIM: 614620
• HGNC: 29077
• e!Ensembl: ENSG00000187535

Protein

• UniProt ID: Q96RY7
• Protein name: Intraflagellar transport protein 140 homolog (WD and tetratricopeptide repeats protein 2)
• Protein function: 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) (PubMed:20889716, PubMed:22503633). Plays a pivotal role in proper development and function o
• PDB: 8BBF, 8BBG, 8FGW, 8FH3
• Sequence:

  MALYYDHQIEAPDAAGSPSFISWHPVHPFLAVAYISTTSTGSVDIYLEQGECVPDTHVER
  PFRVASLCWHPTRLVLAVGWETGEVTVFNKQDKEQHTMPLTHTADITVLRWSPSGNCLLS
  GDRLGVLLLWRLDQRGRVQGTPLLKHEYGKHLTHCIFRLPPPGEDLVQLAKAAVSGDEKA
  LDMFNWKKSSSGSLLKMGSHEGLLFFVSLMDGTVHYVDEKGKTTQVVSADSTIQMLFYME
  KREALVVVTENLRLSLYTVPPEGKAEEVMKVKLSGKTGRRADIALIEGSLLVMAVGEAAL
  RFWDIERGENYILSPDEKFGFEKGENMNCVCYCKVKGLLAAGTDRGRVAMWRKVPDFLGS
  PGAEGKDRWALQTPTELQGNITQIQWGSRKNLLAVNSVISVAILSERAMSSHFHQQVAAM
  QVSPSLLNVCFLSTGVAHSLRTDMHISGVFATKDAVAVWNGRQVAIFELSGAAIRSAGTF
  LCETPVLAMHEENVYTVESNRVQVRTWQGTVKQLLLFSETEGNPCFLDICGNFLVVGTDL
  AHFKSFDLSRREAKAHCSCRSLAELVPGVGGIASLRCSSSGSTISILPSKADNSPDSKIC
  FYDVEMDTVTVFDFKTGQIDRRETLSFNEQETNKSHLFVDEGLKNYVPVNHFWDQSEPRL
  FVCEAVQETPRSQPQSANGQPQDGRAGPAADVLILSFFISEEHGFLLHESFPRPATSHSL
  LGMEVPYYYFTRKPEEADREDEVEPGCHHIPQMVSRRPLRDFVGLEDCDKATRDAMLHFS
  FFVTIGDMDEAFKSIKLIKSEAVWENMARMCVKTQRLDVAKVCLGNMGHARGARALREAE
  QEPELEARVAVLATQLGMLEDAEQLYRKCKRHDLLNKFYQAAGRWQEALQVAEHHDRVHL
  RSTYHRYAGHLEASADCSRALSYYEKSDTHRFEVPRMLSEDLPSLELYVNKMKDKTLWRW
  WAQYLESQGEMDAALHYYELARDHFSLVRIHCFQGNVQKAAQIANETGNLAASYHLARQY
  ESQEEVGQAVHFYTRAQAFKNAIRLCKENGLDDQLMNLALLSSPEDMIEAARYYEEKGVQ
  MDRAVMLYHKAGHFSKALELAFATQQFVALQLIAEDLDETSDPALLARCSDFFIEHSQYE
  RAVELLLAARKYQEALQLCLGQNMSITEEMAEKMTVAKDSSDLPEESRRELLEQIADCCM
  RQGSYHLATKKYTQAGNKLKAMRALLKSGDTEKITFFASVSRQKEIYIMAANYLQSLDWR
  KEPEIMKNIIGFYTKGRALDLLAGFYDACAQVEIDEYQNYDKAHGALTEAYKCLAKAKAK
  SPLDQETRLAQLQSRMALVKRFIQARRTYTEDPKESIKQCELLLEEPDLDSTIRIGDVYG
  FLVEHYVRKEEYQTAYRFLEEMRRRLPLANMSYYVSPQAVDAVHRGLGLPLPRTVPEQVR
  HNSMEDARELDEEVVEEADDDP

• Sequence length: 1462

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
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs770185023	RCV005895484	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Asphyxiating thoracic dystrophy 1	Pathogenic	rs559314300	RCV004770312	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant polycystic kidney disease	Pathogenic; Likely pathogenic	rs376586707, rs144513458	RCV003993751 RCV005250107	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranioectodermal dysplasia	Pathogenic	rs1417500285	RCV000626464	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cystic renal disease	Pathogenic; Likely pathogenic	rs2141800223, rs1432688490, rs376586707, rs140039128	RCV005860236 RCV005922537 RCV006252553 RCV006440035	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IFT140-associated disorder	Likely pathogenic; Pathogenic	rs140039128	RCV005622011	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IFT140-related disorder	Likely pathogenic; Pathogenic	rs777399400, rs1424099914, rs1432688490, rs1206753537, rs559314300, rs1221367358, rs554927827, rs1172857937, rs1253188873, rs2507642161, rs1567386464, rs1404356337, rs1226646214, rs376586707, rs201188361, rs140039128, rs1567330535, rs144513458, rs770731272, rs1471379682	RCV003416302 RCV003405632 RCV004753392 RCV003416523 RCV003913466 RCV003409908 RCV004731512 RCV003404251 RCV003408686 RCV003397540 RCV004753734 RCV003911620 RCV003979283 RCV003924859 RCV004752723 RCV003411642 RCV003411699 RCV004753029 RCV003892700 RCV004753238	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jeune thoracic dystrophy	Likely pathogenic; Pathogenic	rs431905521, rs770185023, rs201188361, rs587776909	RCV000515922 RCV000516131 RCV000515934 RCV000515983	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Likely pathogenic; Pathogenic	rs431905521, rs764770536	RCV000626469 RCV000626463	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Likely pathogenic; Pathogenic	rs201188361	RCV001328311	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic kidney disease	Likely pathogenic; Pathogenic	rs1226646214, rs376586707	RCV005860406 RCV004760343	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic kidney disease 9, susceptibility to	Pathogenic; Likely pathogenic	rs1253188873, rs376586707, rs140039128	RCV005871153 RCV005255556 RCV005260366	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal cyst	Pathogenic; Likely pathogenic	rs1166261279, rs431905522, rs777399400, rs1432688490, rs1206753537, rs780965515, rs554927827, rs1253188873, rs1404356337, rs376586707, rs140039128, rs1567413573, rs144513458, rs762817061	RCV004785311 RCV004786361 RCV004789564 RCV006249771 RCV004785356 RCV004785570 RCV006249862 RCV004786937 RCV006257390 RCV004786282 RCV004788137 RCV004788149 RCV006249678 RCV005417387	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene	Likely pathogenic; Pathogenic	rs201188361, rs1555474009	RCV000626465 RCV000626466	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Pathogenic	rs770731272	RCV006261751	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs1166261279, rs431905521, rs1432688490, rs779007169, rs1221627009, rs1567386464, rs2506064268, rs2506103002, rs2506113603, rs2141172134, rs749330035, rs2141180025, rs376586707, rs758052634, rs1002670900, rs762111572, rs2033706353, rs2034681207, rs2034747055, rs762817061, rs2035847573, rs748523056, rs2034739931	RCV004815633 RCV004815018 RCV003888321 RCV004816249 RCV004817049 RCV003889359 RCV003889695 RCV003889697 RCV003889702 RCV003889703 RCV003889704 RCV003889708 RCV001075306 RCV001073305 RCV001075043 RCV001073518 RCV001074940 RCV001075334 RCV001075809 RCV001075497 RCV001073385 RCV001074232 RCV001073817	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs431905521, rs780965515, rs779007169, rs1221367358, rs2507421825, rs770185023, rs1253188873, rs773372123, rs758052634, rs1423102192, rs140039128, rs772757427	RCV004579537 RCV002308671 RCV000201484 RCV005406501 RCV003485805 RCV003155145 RCV005406679 RCV000504730 RCV002282196 RCV001779029 RCV001724143 RCV005432644	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 80	Pathogenic; Likely pathogenic	rs1166261279, rs431905521, rs431905522, rs2141172226, rs777399400, rs763737398, rs2040683256, rs2141800223, rs2141882563, rs1415763185, rs2141816540, rs1432688490, rs1206753537, rs2040685752, rs1307461796, rs2141540660, rs1257804746, rs2141185231, rs559314300, rs765669703, rs2141179932, rs780965515, rs1221627009, rs1221367358, rs2506128598, rs2040425342, rs1449774485, rs2507421825, rs554927827, rs770185023, rs1172857937, rs1596419766, rs545658252, rs1567386464, rs2507865187, rs772603273, rs2507641936, rs2507835305, rs2508572124, rs2507094628, rs2508719279, rs766084603, rs387907192, rs376586707, rs201188361, rs587776909, rs559371453, rs1555487977, rs1441549097, rs758052634, rs1555486629, rs1002670900, rs1555474009, rs1423102192, rs140039128, rs144513458, rs770731272, rs777889289, rs1567327347, rs762111572, rs762817061, rs1431530916, rs1471379682, rs375910993, rs749563050, rs1489989834, rs772757427	RCV002503275 RCV005016363 RCV002498438 RCV001535861 RCV005005913 RCV002551562 RCV001542690 RCV001542781 RCV001591792 RCV002496049 RCV002503266 RCV002503283 RCV005014743 RCV002492177 RCV005016841 RCV002250785 RCV005008310 RCV005016777 RCV005016933 RCV002503625 RCV002503448 RCV005017202 RCV005019246 RCV005008700 RCV005019360 RCV005008737 RCV005019413 RCV006249398 RCV003152928 RCV002503978 RCV005021939 RCV005014785 RCV005013161 RCV005015069 RCV003991103 RCV003991116 RCV003991363 RCV003992094 RCV004545928 RCV004555307 RCV004555499 RCV005010314 RCV000515561 RCV000515584 RCV001249674 RCV005007894 RCV005010467 RCV000515559 RCV000515582 RCV000515606 RCV005010468 RCV002506390 RCV005260253 RCV005019038 RCV001535954 RCV002500984 RCV005021163 RCV000786892 RCV005012417 RCV002482151 RCV005021433 RCV005012630 RCV002497752 RCV002480683 RCV002497804 RCV002499458 RCV002250740	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Saldino-Mainzer syndrome	Pathogenic; Likely pathogenic	rs2035852852, rs1166261279, rs431905520, rs431905521, rs431905522, rs574450870, rs2141172226, rs372746686, rs777399400, rs1424099914, rs763737398, rs2142100542, rs2141800223, rs1415763185, rs2141816540, rs774547622, rs1432688490, rs777862012, rs2141145188, rs2142099151, rs1206753537, rs2040685752, rs1307461796, rs2141540660, rs2141144931, rs754400742, rs1257804746, rs2141185231, rs559314300, rs765669703, rs2141179932, rs2141147087, rs2141541431, rs2141634877, rs2141570994, rs2141148172, rs2141171226, rs780965515, rs562033874, rs2507094576, rs1221627009, rs1221367358, rs2506128598, rs1263308663, rs773614995, rs2040425342, rs2506102659, rs1449774485, rs2508572306, rs2508713536, rs2506115448, rs2507421825, rs780721001, rs1567328510, rs2507758369, rs1085307074, rs770185023, rs2033836650, rs1172857937, rs2508572820, rs777990630, rs2507833751, rs1596419766, rs2506121441, rs2506136762, rs2507089875, rs2508077781, rs2507868188, rs2506115439, rs1229896671, rs545658252, rs1567386464, rs2141172134, rs772603273, rs2508572124, rs2507935242, rs766084603, rs387907192, rs376586707, rs387907193, rs431905506, rs201188361, rs587776909, rs773372123, rs559371453, rs758052634, rs1555486629, rs1002670900, rs1555478654, rs764770536, rs1423102192, rs1417500285, rs1555491448, rs1403669200, rs140039128, rs1567407044, rs1567330535, rs144513458, rs770731272, rs1567327347, rs762111572, rs762817061, rs2035847573, rs2034739931, rs2035218747, rs1431530916, rs1471379682, rs375910993, rs2040631802, rs749563050, rs775682083, rs2035236903, rs2034013225, rs1489989834, rs772757427	RCV002746624 RCV001785239 RCV000083296 RCV000083297 RCV001854453 RCV001353344 RCV001535861 RCV001381146 RCV001381246 RCV001383877 RCV001387808 RCV001386540 RCV005014583 RCV001726721 RCV002503266 RCV001795667 RCV002541298 RCV001892734 RCV001878656 RCV001970594 RCV001907936 RCV001973205 RCV001951871 RCV001964909 RCV001893287 RCV001911115 RCV001975158 RCV001922623 RCV002007187 RCV001923946 RCV001875192 RCV001942275 RCV001885593 RCV001975244 RCV001975110 RCV001910217 RCV002009106 RCV005017202 RCV003085346 RCV003104695 RCV002583614 RCV002695487 RCV002736210 RCV002760937 RCV002786680 RCV002761577 RCV002825211 RCV002835047 RCV002866735 RCV002847247 RCV002866951 RCV003041770 RCV003046017 RCV003032727 RCV003050292 RCV000490349 RCV001055096 RCV003236626 RCV005021939 RCV003530369 RCV003530871 RCV003531074 RCV003531018 RCV003646176 RCV003646389 RCV003646528 RCV003646500 RCV003646639 RCV003646848 RCV003646931 RCV003647104 RCV003876661 RCV005101488 RCV005015111 RCV005015179 RCV004555781 RCV001386349 RCV000024359 RCV000024360 RCV000024361 RCV000024362 RCV000024363 RCV000024364 RCV001002703 RCV005010467 RCV001857877 RCV000515580 RCV001230423 RCV001860011 RCV000626463 RCV000626460 RCV000626464 RCV000626468 RCV000626461 RCV000704469 RCV002535022 RCV001281143 RCV002500984 RCV000779179 RCV000989408 RCV002482151 RCV003645884 RCV002554659 RCV003645883 RCV001197586 RCV005012630 RCV002497752 RCV001208661 RCV001246196 RCV001234793 RCV001237006 RCV001244818 RCV001251125 RCV002499458 RCV001379861	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASPHYXIATING THORACIC DYSPLASIA JEUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AXENFELD-RIEGER SYNDROME, TYPE 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cranioectodermal dysplasia 5	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRIS HYPOPLASIA WITH GLAUCOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JEUNE SYNDROME	—	Orphanet Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis	Uncertain significance	ClinVar ClinVar, Disgenet, Orphanet ClinVar, Disgenet, Orphanet ClinVar, Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAINZER-SALDINO DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Orofacial-digital syndrome III	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY	—	HPO, Orphanet HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	26216056		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	34556108	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	23418020, 24009529, 24698627, 26359340, 26968735, 27874174, 28724397, 29195058, 29688594, 29706353, 31034313, 31238004, 31397098		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	26968735, 29688594, 29706353, 34890546, 37628605	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranioectodermal Dysplasia	Craniodiaphyseal dysplasia	Pubtator	32007091, 37628605	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranioectodermal dysplasia	Cranioectodermal Dysplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cystic kidney	Cystic Kidney Disease	BEFREE	22282595		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial paroxysmal dystonia	Paroxysmal dystonia	Pubtator	34890546	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
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	BEFREE	26359340		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	39732359	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	40428294	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	38084016	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	38084016	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Jeune syndrome	Jeune syndrome	Pubtator	22503633	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	BEFREE	22503633, 24009529		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	ORPHANET_DG	22503633, 23418020, 24009529		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	GENOMICS_ENGLAND_DG	22503633		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23418020, 29706353		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	29706353, 39732359	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases Cystic	Kidney disease	Pubtator	34890546, 36573973	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	32007091, 37628605	Associate	★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	26216056		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	26216056	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leber congenital amaurosis	Leber Congenital Amaurosis	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Liver Failure	Liver failure	Pubtator	34890546	Associate	★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mainzer-Saldino Disease	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	GENOMICS_ENGLAND_DG	22503633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mainzer-Saldino Disease	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	UNIPROT_DG	22503633, 23418020, 24009529, 28288023, 28724397		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mainzer-Saldino Disease	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	CLINVAR_DG	22503633, 23418020, 26216056, 28724397		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mainzer-Saldino Disease	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	ORPHANET_DG	22503633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mainzer-Saldino Disease	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	BEFREE	23418020, 24698627, 28724397		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Majewski Syndrome	Majewski Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	23418020		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	BEFREE	30293716		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	29706353		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Nephronophthisis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	29706353	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	37628605	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
obsolete Rod-cone dystrophy	Rod-cone dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Opitz trigonocephaly syndrome	C syndrome	BEFREE	27874174		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	34890546, 39732359, 40428294	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	29195058		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	26216056	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	23418020, 26359340, 26968735		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophy, Early Onset Severe	Retinal Dystrophy	BEFREE	24698627		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	26216056, 26968735		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	ORPHANET_DG	26216056		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	26216056, 26968735, 29688594, 38084016	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	26497376		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 80	Retinitis Pigmentosa	UNIPROT_DG	26216056, 26359340, 26968735		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 80	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RHYNS syndrome	Rhyns syndrome	Pubtator	38084016	Associate	★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Saldino-Mainzer syndrome	Saldino-Mainzer Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Saldino-Noonan Syndrome	Asphyxiating thoracic dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only