IFT172 (intraflagellar transport 172)

Gene

• Entrez ID: 26160
• Gene name: Intraflagellar transport 172
• Gene symbol: IFT172
• Synonyms (NCBI Gene): BBS20, NPHP17, RP71, SLB, SRTD10, osm-1, wim
• Chromosome: 2
• Chromosome location: 2p23.3
• Summary: This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydact

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61743977	G>C	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant, 5 prime UTR variant
rs61747068	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs139021548	G>A,C	Likely-pathogenic	Missense variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, upstream transcript variant, stop gained
rs145541911	G>A	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs201862538	G>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs202024173	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs370540673	C>A,T	Pathogenic	Genic upstream transcript variant, intron variant, splice acceptor variant
rs587777079	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587777080	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587777081	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587777082	C>T	Pathogenic	Splice donor variant
rs587777083	TC>-,TCTC	Pathogenic	Intron variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs587777084	TCAATA>-	Pathogenic	Inframe deletion, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs587777085	A>T	Pathogenic	Missense variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs587777086	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587777087	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs750338419	->T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs786205857	A>G	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs786205858	A>T	Pathogenic	Intron variant
rs1250676888	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained, genic upstream transcript variant
rs1553322497	->G	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049558	hsa-miR-92a-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001841	Process	Neural tube formation	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001947	Process	Heart looping	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0005929	Component	Cilium	NAS	26980730
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IBA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0008544	Process	Epidermis development	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IEA
GO:0016485	Process	Protein processing	IEA
GO:0021522	Process	Spinal cord motor neuron differentiation	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0030990	Component	Intraciliary transport particle	IEA
GO:0030992	Component	Intraciliary transport particle B	IBA
GO:0030992	Component	Intraciliary transport particle B	IEA
GO:0030992	Component	Intraciliary transport particle B	IPI	26980730
GO:0030992	Component	Intraciliary transport particle B	ISS
GO:0031122	Process	Cytoplasmic microtubule organization	IEA
GO:0035720	Process	Intraciliary anterograde transport	NAS	26980730
GO:0036064	Component	Ciliary basal body	IBA
GO:0042073	Process	Intraciliary transport	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0048596	Process	Embryonic camera-type eye morphogenesis	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060173	Process	Limb development	IEA
GO:0060271	Process	Cilium assembly	IDA	24140113
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0060271	Process	Cilium assembly	NAS	26980730
GO:0060348	Process	Bone development	IEA
GO:0061525	Process	Hindgut development	IEA
GO:0070986	Process	Left/right axis specification	IEA
GO:0097225	Component	Sperm midpiece	IEA
GO:0097228	Component	Sperm principal piece	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:0097598	Component	Sperm cytoplasmic droplet	IEA
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1905515	Process	Non-motile cilium assembly	IEA

Other IDs

• MIM: 607386
• HGNC: 30391
• e!Ensembl: ENSG00000138002

Protein

• UniProt ID: Q9UG01
• Protein name: Intraflagellar transport protein 172 homolog
• Protein function: Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity).
• PDB: 9H2D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	3 → 44	WD domain, G-beta repeat	Repeat

• Sequence:

  MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADM
  KYGRKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQW
  PAEYIIVFGLAEGKVRLANTKTNKSSTIYGTESYVVSLTTNCSGKGILSGHADGTIVRYF
  FDDEGSGESQGKLVNHPCPPYALAWATNSIVAAGCDRKIVAYGKEGHMLQTFDYSRDPQE
  REFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKPKEITNLYTITALAWKRDGSR
  LCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLKSHYGYEVEEV
  KILGKERYLVAHTSETLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLV
  EYGNNDTLGSVRTEFMNPHLISVRINERCQRGTEDNKKLAYLIDIKTIAIVDLIGGYNIG
  TVSHESRVDWLELNETGHKLLFRDRKLRLHLYDIESCSKTMILNFCSYMQWVPGSDVLVA
  QNRNSLCVWYNIEAPERVTMFTIRGDVIGLERGGGKTEVMVMEGVTTVAYTLDEGLIEFG
  TAIDDGNYIRATAFLETLEMTPETEAMWKTLSKLALEARQLHIAERCFSALGQVAKARFL
  HETNEIADQVSREYGGEGTDFYQVRARLAMLEKNYKLAEMIFLEQNAVEEAMGMYQELHR
  WDECIAVAEAKGHPALEKLRRSYYQWLMDTQQEERAGELQESQGDGLAAISLYLKAGLPA
  KAARLVLTREELLANTELVEHITAALIKGELYERAGDLFEKIHNPQKALECYRKGNAFMK
  AVELARLAFPVEVVKLEEAWGDHLVQQKQLDAAINHYIEARCSIKAIEAALGARQWKKAI
  YILDLQDRNTASKYYPLVAQHYASLQEYEIAEELYTKGDRTKDAIDMYTQAGRWEQAHKL
  AMKCMRPEDVSVLYITQAQEMEKQGKYREAERLYVTVQEPDLAITMYKKHKLYDDMIRLV
  GKHHPDLLSDTHLHLGKELEAEGRLQEAEYHYLEAQEWKATVNMYRASGLWEEAYRVART
  QGGANAHKHVAYLWAKSLGGEAAVRLLNKLGLLEAAVDHAADNCSFEFAFELSRLALKHK
  TPEVHLKYAMFLEDEGKFEEAEAEFIRAGKPKEAVLMFVHNQDWEAAQRVAEAHDPDSVA
  EVLVGQARGALEEKDFQKAEGLLLRAQRPGLALNYYKEAGLWSDALRICKDYVPSQLEAL
  QEEYEREATKKGARGVEGFVEQARHWEQAGEYSRAVDCYLKVRDSGNSGLAEKCWMKAAE
  LSIKFLPPQRNMEVVLAVGPQLIGIGKHSAAAELYLNLDLVKEAIDAFIEGEEWNKAKRV
  AKELDPRYEDYVDQHYKEFLKNQGKVDSLVGVDVIAALDLYVEQGQWDKCIETATKQNYK
  ILHKYVALYATHLIREGSSAQALALYVQHGAPANPQNFNIYKRIFTDMVSSPGTNCAEAY
  HSWADLRDVLFNLCENLVKSSEANSPAHEEFKTMLLIAHYYATRSAAQSVKQLETVAARL
  SVSLLRHTQLLPVDKAFYEAGIAAKAVGWDNMAFIFLNRFLDLTDAIEEGTLDGLDHSDF
  QDTDIPFEVPLPAKQHVPEAEREEVRDWVLTVSMDQRLEQVLPRDERGAYEASLVAASTG
  VRALPCLITGYPILRNKIEFKRPGKAANKDNWNKFLMAIKTSHSPVCQDVLKFISQWCGG
  LPSTSFSFQ

• Sequence length: 1749

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
Bardet-Biedl syndrome	Likely pathogenic	rs1668654133	RCV001195537	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome 20	Pathogenic; Likely pathogenic	rs149614625, rs587777078, rs587777079, rs587777086, rs2148467517, rs999731005, rs1309394469, rs2148476381, rs774548930, rs150246251, rs1329856696, rs761095604, rs1453282096, rs786205855, rs370540673, rs1489674192, rs139021548, rs1369586774, rs1455656088, rs1436511287, rs1666303205, rs2465979379, rs2465998558, rs750338419, rs202024173, rs762958757	RCV002483157 RCV002505011 RCV002483158 RCV002505012 RCV005023147 RCV002476718 RCV005014547 RCV002508154 RCV002497968 RCV002490161 RCV002497875 RCV002507702 RCV005023300 RCV002508142 RCV004562395 RCV005021575 RCV005016550 RCV005027988 RCV005019546 RCV005028132 RCV005021713 RCV005030266 RCV005014975 RCV002476034 RCV005232044 RCV005029791	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IFT172-related disorder	Pathogenic; Likely pathogenic	rs149614625, rs144450109, rs774548930, rs150246251, rs2148559396, rs2148472644, rs786205855, rs370540673, rs139021548, rs2465853379, rs757253624, rs750338419, rs762958757	RCV004737195 RCV004552063 RCV004738483 RCV004738423 RCV004552055 RCV002222927 RCV005867991 RCV004737264 RCV004737295 RCV004550789 RCV004723475 RCV004551657 RCV004738202	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome	Likely pathogenic; Pathogenic	rs587777079	RCV000201713	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2465811314, rs1366937730	RCV003890656 RCV001073779	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Pathogenic	rs149614625	RCV001723662	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 71	Pathogenic; Likely pathogenic	rs149614625, rs587777078, rs587777079, rs587777083, rs587777086, rs587777087, rs2148464837, rs2148546998, rs2148467030, rs2148467517, rs1665095139, rs1665288663, rs2148485970, rs778898472, rs999731005, rs1309394469, rs1357839545, rs1558404443, rs2148467424, rs144450109, rs2148542989, rs1183354903, rs774548930, rs150246251, rs2148544061, rs1444591972, rs1329856696, rs2148559396, rs761095604, rs2148507566, rs2148505406, rs2148477695, rs2148477195, rs2148479160, rs1453282096, rs777676427, rs786205855, rs370540673, rs786205856, rs786205857, rs786205858, rs1489674192, rs751177541, rs761504464, rs139021548, rs1375216897, rs780210480, rs2465835863, rs2466031050, rs2465878777, rs2465984168, rs2465805898, rs2465990477, rs1369586774, rs1667637536, rs2466025777, rs2465878804, rs2465864227, rs1455656088, rs1318391650, rs1572740187, rs759612790, rs1436511287, rs2466036018, rs2466009165, rs1664975368, rs1666303205, rs1553329745, rs2465802780, rs757253624, rs760097703, rs2465979379, rs1393522194, rs1213456960, rs2465878992, rs983926349, rs2465998558, rs2465836142, rs752257485, rs2465831120, rs2465833474, rs781527567, rs1478841179, rs2465806368, rs201862538, rs750338419, rs1250676888, rs202024173, rs1366937730, rs1668686361, rs762958757, rs1665487115	RCV001228000 RCV002514456 RCV002483158 RCV002513860 RCV002505012 RCV001854452 RCV001379241 RCV001377047 RCV001383298 RCV001386730 RCV001383779 RCV001381451 RCV001390978 RCV001388444 RCV001380017 RCV001389719 RCV001383497 RCV001535958 RCV002032074 RCV001900064 RCV001891017 RCV001942869 RCV002006167 RCV001900954 RCV002007153 RCV002007538 RCV001962945 RCV002035036 RCV001972379 RCV001972762 RCV001961560 RCV001948629 RCV002026903 RCV002020969 RCV001867028 RCV003058907 RCV003765075 RCV002492710 RCV000171550 RCV000171551 RCV000171552 RCV003097514 RCV002649503 RCV002676048 RCV001387370 RCV002843687 RCV002856929 RCV002828783 RCV002856113 RCV002835024 RCV002862345 RCV002881703 RCV002857976 RCV002852160 RCV002866935 RCV002866943 RCV002889930 RCV002995208 RCV003002800 RCV003018642 RCV003026759 RCV003047683 RCV003049449 RCV003049497 RCV003046567 RCV003046686 RCV003052437 RCV005021713 RCV003782114 RCV003782148 RCV003779391 RCV003792783 RCV003786730 RCV003786745 RCV003796128 RCV003794237 RCV003794253 RCV003794562 RCV003792499 RCV003808290 RCV003790902 RCV003806285 RCV003800585 RCV003795259 RCV003809330 RCV003813066 RCV001865399 RCV000810508 RCV000702336 RCV001213870 RCV001207420 RCV001207600 RCV001227918 RCV001247743	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short-rib thoracic dysplasia 10 with or without polydactyly	Pathogenic; Likely pathogenic	rs149614625, rs587777078, rs587777079, rs587777083, rs587777085, rs587777086, rs587777087, rs2148464837, rs2148546998, rs2148467030, rs2148467517, rs1665095139, rs1665288663, rs2148485970, rs778898472, rs999731005, rs1309394469, rs1357839545, rs1558404443, rs2148467424, rs144450109, rs2148542989, rs1183354903, rs774548930, rs150246251, rs2148544061, rs1444591972, rs1329856696, rs2148559396, rs761095604, rs2148507566, rs2148505406, rs2148477695, rs2148477195, rs2148479160, rs1453282096, rs777676427, rs786205855, rs370540673, rs1489674192, rs751177541, rs761504464, rs139021548, rs1375216897, rs780210480, rs2465835863, rs2466031050, rs2465878777, rs2465984168, rs2465805898, rs2465990477, rs1369586774, rs1667637536, rs2466025777, rs2465878804, rs2465864227, rs1455656088, rs1318391650, rs1572740187, rs759612790, rs1436511287, rs2466036018, rs2466009165, rs1664975368, rs1666303205, rs1553329745, rs2465802780, rs757253624, rs760097703, rs2465979379, rs1393522194, rs1213456960, rs2465878992, rs983926349, rs2465998558, rs2465836142, rs752257485, rs2465831120, rs2465833474, rs781527567, rs1478841179, rs2465806368, rs201862538, rs750338419, rs1250676888, rs202024173, rs1366937730, rs1668686361, rs762958757, rs1665487115	RCV000083268 RCV002514456 RCV000083270 RCV002513860 RCV000083277 RCV002505012 RCV001854452 RCV001379241 RCV001377047 RCV001383298 RCV001386730 RCV001383779 RCV001381451 RCV001390978 RCV001388444 RCV001380017 RCV001389719 RCV001383497 RCV001535958 RCV002032074 RCV001900064 RCV001891017 RCV001942869 RCV002006167 RCV001900954 RCV002007153 RCV002007538 RCV001962945 RCV002035036 RCV001972379 RCV001972762 RCV001961560 RCV001948629 RCV002026903 RCV002020969 RCV001867028 RCV003058907 RCV003765075 RCV002492710 RCV003097514 RCV002649503 RCV002676048 RCV000190597 RCV002843687 RCV002856929 RCV002828783 RCV002856113 RCV002835024 RCV002862345 RCV002881703 RCV002857976 RCV002852160 RCV002866935 RCV002866943 RCV002889930 RCV002995208 RCV003002800 RCV003018642 RCV003026759 RCV003047683 RCV003049449 RCV003049497 RCV003046567 RCV003046686 RCV003052437 RCV005021713 RCV003782114 RCV003782148 RCV003779391 RCV003792783 RCV003786730 RCV003786745 RCV003796128 RCV003794237 RCV003794253 RCV003794562 RCV003792499 RCV003808290 RCV003790902 RCV003806285 RCV003800585 RCV003795259 RCV003809330 RCV003813066 RCV001865399 RCV000810508 RCV000702336 RCV001213870 RCV001207420 RCV001207600 RCV001227918 RCV001247743	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short-rib thoracic dysplasia 10 with polydactyly	Pathogenic	rs587777083, rs587777087	RCV000083275 RCV000083279	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short-rib thoracic dysplasia 10 without polydactyly	Pathogenic; Likely pathogenic	rs587777078, rs587777081, rs587777082, rs587777084, rs587777086	RCV000083269 RCV000083272 RCV000083273 RCV000083276 RCV000083278	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short-rib thoracic dysplasia 6 with or without polydactyly	Likely pathogenic; Pathogenic	rs750338419	RCV000515844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPHYXIATING THORACIC DYSPLASIA JEUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asphyxiating thoracic dystrophy 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bardet-Biedl syndrome 22	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ 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	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JEUNE SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JEUNE THORACIC DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAINZER-SALDINO DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJEWSKI SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Uncertain significance	ClinVar ClinVar, Disgenet ClinVar, Disgenet ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodontia-cancer predisposition syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALDINO-MAINZER SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	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 9 WITH OR WITHOUT POLYDACTYLY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ 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
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	10515890		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	20884846, 23263486		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	24140113		★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	21653639		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	25168386, 26763875, 31850339		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	ORPHANET_DG	25168386		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome	Bardet-Biedl Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	34674729	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	34674729	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	37471416	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	25168386, 25664603, 29659833		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	38062428	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG	26092869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	37471416	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	20884846, 23263486		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	37471416	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	37834292	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	25664603		★☆☆☆☆ Found in Text Mining only
Jeune syndrome	Jeune Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	GENOMICS_ENGLAND_DG	24140113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	ORPHANET_DG	24140113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	10515890		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	37471416	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mainzer-Saldino Disease	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	BEFREE	24140113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mainzer-Saldino Disease	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	ORPHANET_DG	24140113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mainzer-Saldino Disease	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	GENOMICS_ENGLAND_DG	24140113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Majewski Syndrome	Majewski Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Majewski Syndrome	Majewski Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	37471416	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	26763875		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ 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
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	ORPHANET_DG	25168386		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	31850339		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 71	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	24140113		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 71	Retinitis Pigmentosa	UNIPROT_DG	25168386		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 71	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 71	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Saldino-Mainzer syndrome	Saldino-Mainzer Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Saldino-Noonan Syndrome	Asphyxiating thoracic dystrophy	CTD_human_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
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY	Short-Rib Thoracic Dysplasia With Or Without Polydactyly	GENOMICS_ENGLAND_DG	24140113		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY	Short-Rib Thoracic Dysplasia With Or Without Polydactyly	UNIPROT_DG	24140113		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY	Short-Rib Thoracic Dysplasia With Or Without Polydactyly	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	25664603		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ 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
Thoracic dysplasia	Thoracic dysplasia	BEFREE	31850339		★☆☆☆☆ Found in Text Mining only
Thoracic dysplasia	Thoracic dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
VACTERL Association With Hydrocephalus	VACTERL Association	BEFREE	21653639		★☆☆☆☆ Found in Text Mining only