TTC21B (tetratricopeptide repeat domain 21B)

Gene

• Entrez ID: 79809
• Gene name: Tetratricopeptide repeat domain 21B
• Gene symbol: TTC21B
• Synonyms (NCBI Gene): ATD4, CFAP60, FAP60, FLA17, IFT139, IFT139B, JBTS11, NPHP12, Nbla10696, SRTD4, THM1
• Chromosome: 2
• Chromosome location: 2q24.3
• Summary: This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs76726265	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs79746977	G>A	Pathogenic	Coding sequence variant, stop gained
rs139441507	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Coding sequence variant, missense variant
rs140384742	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant, 3 prime UTR variant
rs146320075	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs146496725	G>C	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
rs149325238	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs185089786	G>A,C	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs369159801	G>T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs387907059	A>T	Pathogenic	Coding sequence variant, stop gained
rs387907060	A>G	Pathogenic	Coding sequence variant, missense variant
rs753627675	C>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs759086770	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, missense variant
rs759648976	->CACCCGC	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, inframe indel
rs760214276	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant, upstream transcript variant
rs766132877	T>C	Pathogenic	Splice acceptor variant, synonymous variant, coding sequence variant
rs775836730	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs866222900	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1453462442	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553506530	TA>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant, genic downstream transcript variant
rs1553508246	T>C	Likely-pathogenic	Splice acceptor variant
rs1553516687	G>T	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant
rs1559056633	G>A	Pathogenic	Stop gained, coding sequence variant
rs1574070787	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046982	hsa-miR-218-5p	CLASH	23622248
MIRT696584	hsa-miR-3974	HITS-CLIP	23313552
MIRT696583	hsa-miR-624-3p	HITS-CLIP	23313552
MIRT696582	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT696581	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT696580	hsa-miR-940	HITS-CLIP	23313552
MIRT696578	hsa-miR-4457	HITS-CLIP	23313552
MIRT696579	hsa-miR-125b-2-3p	HITS-CLIP	23313552
MIRT696577	hsa-miR-383-3p	HITS-CLIP	23313552
MIRT696576	hsa-miR-1827	HITS-CLIP	23313552
MIRT696575	hsa-miR-6089	HITS-CLIP	23313552
MIRT696574	hsa-miR-3665	HITS-CLIP	23313552
MIRT696573	hsa-miR-4736	HITS-CLIP	23313552
MIRT696572	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696571	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696570	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696569	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696568	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT696567	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696566	hsa-miR-3165	HITS-CLIP	23313552
MIRT696565	hsa-miR-513b-5p	HITS-CLIP	23313552
MIRT696564	hsa-miR-7977	HITS-CLIP	23313552
MIRT696563	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696562	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696561	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696560	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696559	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696558	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696557	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696556	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696555	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696554	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696553	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT696552	hsa-miR-3122	HITS-CLIP	23313552
MIRT696551	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT696550	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696549	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT696584	hsa-miR-3974	HITS-CLIP	23313552
MIRT696583	hsa-miR-624-3p	HITS-CLIP	23313552
MIRT696582	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT696581	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT696580	hsa-miR-940	HITS-CLIP	23313552
MIRT696578	hsa-miR-4457	HITS-CLIP	23313552
MIRT696579	hsa-miR-125b-2-3p	HITS-CLIP	23313552
MIRT696577	hsa-miR-383-3p	HITS-CLIP	23313552
MIRT696576	hsa-miR-1827	HITS-CLIP	23313552
MIRT696575	hsa-miR-6089	HITS-CLIP	23313552
MIRT696574	hsa-miR-3665	HITS-CLIP	23313552
MIRT696573	hsa-miR-4736	HITS-CLIP	23313552
MIRT696572	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696571	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696570	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696569	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696568	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT696567	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696566	hsa-miR-3165	HITS-CLIP	23313552
MIRT696565	hsa-miR-513b-5p	HITS-CLIP	23313552
MIRT696564	hsa-miR-7977	HITS-CLIP	23313552
MIRT696563	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696562	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696561	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696560	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696559	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696558	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696557	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696556	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696555	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696554	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696553	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT696552	hsa-miR-3122	HITS-CLIP	23313552
MIRT696551	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT696550	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696549	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT1461039	hsa-miR-1287	CLIP-seq
MIRT1461040	hsa-miR-2114	CLIP-seq
MIRT1461041	hsa-miR-3135b	CLIP-seq
MIRT1461042	hsa-miR-3675-3p	CLIP-seq
MIRT1461043	hsa-miR-3922-5p	CLIP-seq
MIRT1461044	hsa-miR-3929	CLIP-seq
MIRT1461045	hsa-miR-4419b	CLIP-seq
MIRT1461046	hsa-miR-4434	CLIP-seq
MIRT1461047	hsa-miR-4478	CLIP-seq
MIRT1461048	hsa-miR-4486	CLIP-seq
MIRT1461049	hsa-miR-4516	CLIP-seq
MIRT1461050	hsa-miR-4531	CLIP-seq
MIRT1461051	hsa-miR-4540	CLIP-seq
MIRT1461052	hsa-miR-4684-5p	CLIP-seq
MIRT1461053	hsa-miR-4722-5p	CLIP-seq
MIRT1461054	hsa-miR-4768-3p	CLIP-seq
MIRT1461055	hsa-miR-485-5p	CLIP-seq
MIRT1461056	hsa-miR-548c-3p	CLIP-seq
MIRT1461057	hsa-miR-605	CLIP-seq
MIRT1461058	hsa-miR-661	CLIP-seq
MIRT2138457	hsa-miR-1227	CLIP-seq
MIRT2138458	hsa-miR-24	CLIP-seq
MIRT1461043	hsa-miR-3922-5p	CLIP-seq
MIRT2138459	hsa-miR-4252	CLIP-seq
MIRT2138460	hsa-miR-4284	CLIP-seq
MIRT2138461	hsa-miR-4466	CLIP-seq
MIRT1461048	hsa-miR-4486	CLIP-seq
MIRT2138462	hsa-miR-4505	CLIP-seq
MIRT2138463	hsa-miR-4746-3p	CLIP-seq
MIRT2138464	hsa-miR-4793-3p	CLIP-seq
MIRT2138465	hsa-miR-508-5p	CLIP-seq
MIRT2138466	hsa-miR-513b	CLIP-seq
MIRT2138467	hsa-miR-624	CLIP-seq
MIRT1461058	hsa-miR-661	CLIP-seq
MIRT2138468	hsa-miR-675	CLIP-seq
MIRT2138469	hsa-miR-766	CLIP-seq
MIRT2138457	hsa-miR-1227	CLIP-seq
MIRT2359373	hsa-miR-1278	CLIP-seq
MIRT2359374	hsa-miR-1323	CLIP-seq
MIRT2359375	hsa-miR-136	CLIP-seq
MIRT2359376	hsa-miR-15a	CLIP-seq
MIRT2359377	hsa-miR-15b	CLIP-seq
MIRT2359378	hsa-miR-16	CLIP-seq
MIRT2359379	hsa-miR-195	CLIP-seq
MIRT2359380	hsa-miR-23a	CLIP-seq
MIRT2359381	hsa-miR-23b	CLIP-seq
MIRT2359382	hsa-miR-23c	CLIP-seq
MIRT2359383	hsa-miR-3120-3p	CLIP-seq
MIRT2359384	hsa-miR-3121-3p	CLIP-seq
MIRT2359385	hsa-miR-3171	CLIP-seq
MIRT2359386	hsa-miR-335	CLIP-seq
MIRT2359387	hsa-miR-3591-3p	CLIP-seq
MIRT2359388	hsa-miR-3671	CLIP-seq
MIRT2359389	hsa-miR-3682-5p	CLIP-seq
MIRT1461044	hsa-miR-3929	CLIP-seq
MIRT2359390	hsa-miR-424	CLIP-seq
MIRT2138459	hsa-miR-4252	CLIP-seq
MIRT2359391	hsa-miR-4261	CLIP-seq
MIRT2359392	hsa-miR-4267	CLIP-seq
MIRT1461045	hsa-miR-4419b	CLIP-seq
MIRT2359393	hsa-miR-4459	CLIP-seq
MIRT1461047	hsa-miR-4478	CLIP-seq
MIRT1461048	hsa-miR-4486	CLIP-seq
MIRT2359394	hsa-miR-4496	CLIP-seq
MIRT2359395	hsa-miR-4695-5p	CLIP-seq
MIRT1461053	hsa-miR-4722-5p	CLIP-seq
MIRT2359396	hsa-miR-4749-3p	CLIP-seq
MIRT2359397	hsa-miR-4753-3p	CLIP-seq
MIRT2359398	hsa-miR-4762-5p	CLIP-seq
MIRT1461054	hsa-miR-4768-3p	CLIP-seq
MIRT2138464	hsa-miR-4793-3p	CLIP-seq
MIRT2359399	hsa-miR-4797-5p	CLIP-seq
MIRT1461055	hsa-miR-485-5p	CLIP-seq
MIRT2359400	hsa-miR-497	CLIP-seq
MIRT2138465	hsa-miR-508-5p	CLIP-seq
MIRT2138466	hsa-miR-513b	CLIP-seq
MIRT2359401	hsa-miR-548o	CLIP-seq
MIRT2138467	hsa-miR-624	CLIP-seq
MIRT2359402	hsa-miR-658	CLIP-seq
MIRT1461058	hsa-miR-661	CLIP-seq
MIRT2359403	hsa-miR-665	CLIP-seq
MIRT2138469	hsa-miR-766	CLIP-seq
MIRT2359404	hsa-miR-885-5p	CLIP-seq
MIRT2359405	hsa-miR-942	CLIP-seq
MIRT2462598	hsa-miR-3613-3p	CLIP-seq
MIRT1461042	hsa-miR-3675-3p	CLIP-seq
MIRT2462599	hsa-miR-4455	CLIP-seq
MIRT1461052	hsa-miR-4684-5p	CLIP-seq
MIRT1461056	hsa-miR-548c-3p	CLIP-seq
MIRT1461057	hsa-miR-605	CLIP-seq
MIRT2652624	hsa-miR-183	CLIP-seq
MIRT1461040	hsa-miR-2114	CLIP-seq
MIRT2359386	hsa-miR-335	CLIP-seq
MIRT2462598	hsa-miR-3613-3p	CLIP-seq
MIRT1461042	hsa-miR-3675-3p	CLIP-seq
MIRT1461044	hsa-miR-3929	CLIP-seq
MIRT2138459	hsa-miR-4252	CLIP-seq
MIRT1461045	hsa-miR-4419b	CLIP-seq
MIRT2462599	hsa-miR-4455	CLIP-seq
MIRT1461047	hsa-miR-4478	CLIP-seq
MIRT1461048	hsa-miR-4486	CLIP-seq
MIRT1461051	hsa-miR-4540	CLIP-seq
MIRT1461052	hsa-miR-4684-5p	CLIP-seq
MIRT1461053	hsa-miR-4722-5p	CLIP-seq
MIRT1461054	hsa-miR-4768-3p	CLIP-seq
MIRT2138464	hsa-miR-4793-3p	CLIP-seq
MIRT1461055	hsa-miR-485-5p	CLIP-seq
MIRT2138465	hsa-miR-508-5p	CLIP-seq
MIRT2138466	hsa-miR-513b	CLIP-seq
MIRT2652625	hsa-miR-532-5p	CLIP-seq
MIRT1461056	hsa-miR-548c-3p	CLIP-seq
MIRT1461057	hsa-miR-605	CLIP-seq
MIRT2138467	hsa-miR-624	CLIP-seq
MIRT1461058	hsa-miR-661	CLIP-seq
MIRT2138469	hsa-miR-766	CLIP-seq
MIRT1461040	hsa-miR-2114	CLIP-seq
MIRT2359386	hsa-miR-335	CLIP-seq
MIRT2462598	hsa-miR-3613-3p	CLIP-seq
MIRT1461042	hsa-miR-3675-3p	CLIP-seq
MIRT1461044	hsa-miR-3929	CLIP-seq
MIRT2138459	hsa-miR-4252	CLIP-seq
MIRT1461045	hsa-miR-4419b	CLIP-seq
MIRT2462599	hsa-miR-4455	CLIP-seq
MIRT1461047	hsa-miR-4478	CLIP-seq
MIRT1461048	hsa-miR-4486	CLIP-seq
MIRT1461051	hsa-miR-4540	CLIP-seq
MIRT1461052	hsa-miR-4684-5p	CLIP-seq
MIRT1461053	hsa-miR-4722-5p	CLIP-seq
MIRT1461054	hsa-miR-4768-3p	CLIP-seq
MIRT2138464	hsa-miR-4793-3p	CLIP-seq
MIRT1461055	hsa-miR-485-5p	CLIP-seq
MIRT2138465	hsa-miR-508-5p	CLIP-seq
MIRT2138466	hsa-miR-513b	CLIP-seq
MIRT2652625	hsa-miR-532-5p	CLIP-seq
MIRT1461056	hsa-miR-548c-3p	CLIP-seq
MIRT1461057	hsa-miR-605	CLIP-seq
MIRT2138467	hsa-miR-624	CLIP-seq
MIRT1461058	hsa-miR-661	CLIP-seq
MIRT2138469	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	29220510
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	27806291
GO:0005929	Component	Cilium	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IMP	22302990
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021591	Process	Ventricular system development	IEA
GO:0021702	Process	Cerebellar Purkinje cell differentiation	IEA
GO:0021798	Process	Forebrain dorsal/ventral pattern formation	IEA
GO:0030900	Process	Forebrain development	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:0035721	Process	Intraciliary retrograde transport	IBA
GO:0035721	Process	Intraciliary retrograde transport	IEA
GO:0035721	Process	Intraciliary retrograde transport	NAS	27806291
GO:0042995	Component	Cell projection	IEA
GO:0060020	Process	Bergmann glial cell differentiation	IEA
GO:0060271	Process	Cilium assembly	NAS	27806291
GO:0061512	Process	Protein localization to cilium	IBA
GO:0061512	Process	Protein localization to cilium	IEA
GO:0061512	Process	Protein localization to cilium	IMP	20889716
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:0097499	Process	Protein localization to non-motile cilium	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:1903999	Process	Negative regulation of eating behavior	IEA
GO:1905799	Process	Regulation of intraciliary retrograde transport	IMP	27932497

Other IDs

• MIM: 612014
• HGNC: 25660
• e!Ensembl: ENSG00000123607

Protein

• UniProt ID: Q7Z4L5
• Protein name: Tetratricopeptide repeat protein 21B (TPR repeat protein 21B) (Intraflagellar transport 139 homolog)
• 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). Essential for retrograde trafficking of IFT-1, IFT-B and GPCRs (PubMed:27932497). Negatively
• PDB: 8BBE, 8BBG, 8FGW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13181	TPR_8	722 → 755	Tetratricopeptide repeat	Repeat
  PF13181	TPR_8	790 → 822	Tetratricopeptide repeat	Repeat
  PF14559	TPR_19	894 → 961		Domain

• Sequence:

  MDSQELKTLINYYCQERYFHHVLLVASEGIKRYGSDPVFRFYHAYGTLMEGKTQEALREF
  EAIKNKQDVSLCSLLALIYAHKMSPNPDREAILESDARVKEQRKGAGEKALYHAGLFLWH
  IGRHDKAREYIDRMIKISDGSKQGHVLKAWLDITRGKEPYTKKALKYFEEGLQDGNDTFA
  LLGKAQCLEMRQNYSGALETVNQIIVNFPSFLPAFVKKMKLQLALQDWDQTVETAQRLLL
  QDSQNVEALRMQALYYVCREGDIEKASTKLENLGNTLDAMEPQNAQLFYNITLAFSRTCG
  RSQLILQKIQTLLERAFSLNPQQSEFATELGYQMILQGRVKEALKWYKTAMTLDETSVSA
  LVGFIQCQLIEGQLQDADQQLEFLNEIQQSIGKSAELIYLHAVLAMKKNKRQEEVINLLN
  DVLDTHFSQLEGLPLGIQYFEKLNPDFLLEIVMEYLSFCPMQPASPGQPLCPLLRRCISV
  LETVVRTVPGLLQTVFLIAKVKYLSGDIEAAFNNLQHCLEHNPSYADAHLLLAQVYLSQE
  KVKLCSQSLELCLSYDFKVRDYPLYHLIKAQSQKKMGEIADAIKTLHMAMSLPGMKRIGA
  STKSKDRKTEVDTSHRLSIFLELIDVHRLNGEQHEATKVLQDAIHEFSGTSEEVRVTIAN
  ADLALAQGDIERALSILQNVTAEQPYFIEAREKMADIYLKHRKDKMLYITCFREIAERMA
  NPRSFLLLGDAYMNILEPEEAIVAYEQALNQNPKDGTLASKMGKALIKTHNYSMAITYYE
  AALKTGQKNYLCYDLAELLLKLKWYDKAEKVLQHALAHEPVNELSALMEDGRCQVLLAKV
  YSKMEKLGDAITALQQARELQARVLKRVQMEQPDAVPAQKHLAAEICAEIAKHSVAQRDY
  EKAIKFYREALVHCETDNKIMLELARLYLAQDDPDSCLRQCALLLQSDQDNEAATMMMAD
  LMFRKQDYEQAVFHLQQLLERKPDNYMTLSRLIDLLRRCGKLEDVPRFFSMAEKRNSRAK
  LEPGFQYCKGLYLWYTGEPNDALRHFNKARKDRDWGQNALYNMIEICLNPDNETVGGEVF
  ENLDGDLGNSTEKQESVQLAVRTAEKLLKELKPQTVQGHVQLRIMENYCLMATKQKSNVE
  QALNTFTEIAASEKEHIPALLGMATAYMILKQTPRARNQLKRIAKMNWNAIDAEEFEKSW
  LLLADIYIQSAKYDMAEDLLKRCLRHNRSCCKAYEYMGYIMEKEQAYTDAALNYEMAWKY
  SNRTNPAVGYKLAFNYLKAKRYVDSIDICHQVLEAHPTYPKIRKDILDKARASLRP

• Sequence length: 1316

Pathways

Reactome:

Hedgehog 'off' state
Intraflagellar transport

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Asphyxiating thoracic dystrophy 4	Likely pathogenic; Pathogenic	rs779134983, rs2105363277, rs1685080096, rs779472675, rs2105291970, rs764514397, rs748514860, rs754911118, rs2105329247, rs2105344578, rs1183062277, rs776301212, rs771232897, rs906032090, rs2468244727, rs202239983, rs2468122348, rs1686551975, rs753627675, rs140511594, rs766132877, rs185089786, rs387907060, rs773580610, rs759086770, rs79746977, rs775836730, rs760214276, rs867205119	RCV002493924 RCV004796631 RCV001536086 RCV001535854 RCV001535855 RCV001535953 RCV001536012 RCV005014601 RCV005014669 RCV002489903 RCV002503420 RCV002492195 RCV005025514 RCV002479576 RCV005025935 RCV005019381 RCV003219190 RCV005392695 RCV005014971 RCV000763456 RCV001535927 RCV000023927 RCV000023928 RCV005018816 RCV000656518 RCV005027597 RCV002496988 RCV005018892 RCV000656517 RCV005027893	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 2	Pathogenic	rs748514860	RCV003339667	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs766132877	RCV005888657	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Finnish congenital nephrotic syndrome	Likely pathogenic; Pathogenic	rs140511594	RCV000786982	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile nephronophthisis	Likely pathogenic; Pathogenic	rs140511594, rs766132877	RCV000857219 RCV000857220	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Likely pathogenic; Pathogenic	rs779134983, rs779472675, rs764514397, rs748514860, rs754911118, rs199559023, rs371396651, rs2105291727, rs1559053862, rs1183062277, rs776301212, rs748598334, rs1685569880, rs749794837, rs772612775, rs771232897, rs2105292022, rs1686972152, rs2105344608, rs2105291679, rs895624584, rs906032090, rs769816345, rs773008707, rs2105343139, rs2105292027, rs2105291990, rs2105324384, rs1489728717, rs1686210975, rs769095855, rs2468197337, rs1409684471, rs2468144479, rs777508961, rs1455507192, rs1686814382, rs1382566648, rs2468244727, rs368907623, rs2468165481, rs202239983, rs2468212127, rs2468104296, rs1686811023, rs2468244716, rs779714510, rs773543112, rs2468180880, rs1686119579, rs2468169471, rs777162250, rs780125805, rs2468109553, rs2468176254, rs1241301882, rs1686551975, rs376746146, rs774811002, rs752998754, rs753627675, rs1451904718, rs1559075003, rs1244170961, rs2468212841, rs2468197052, rs1264683917, rs2468177005, rs1168548075, rs2468212452, rs140511594, rs766132877, rs185089786, rs773580610, rs79746977, rs1453462442, rs775836730, rs1553506530, rs1553508246, rs760214276, rs369159801, rs867205119, rs1574070787, rs1685487857, rs748663904	RCV001382361 RCV003771652 RCV002568923 RCV003771653 RCV005225445 RCV001931706 RCV001959531 RCV001951824 RCV001907441 RCV001937154 RCV001977593 RCV002033231 RCV001949256 RCV001896452 RCV002044728 RCV001993350 RCV001993354 RCV002024501 RCV001957156 RCV001873094 RCV001917908 RCV001941520 RCV001951217 RCV002001160 RCV001891984 RCV001934887 RCV001975032 RCV001949593 RCV002042111 RCV003068148 RCV003077854 RCV003085913 RCV003111908 RCV003111973 RCV003105352 RCV002577406 RCV002574296 RCV002653191 RCV002663069 RCV002671995 RCV002740663 RCV002770144 RCV002819660 RCV002810824 RCV002861734 RCV002866643 RCV002871522 RCV002871599 RCV002894538 RCV002899558 RCV002919026 RCV001383380 RCV002954230 RCV003023568 RCV003047027 RCV003785728 RCV003781589 RCV003784387 RCV003788454 RCV003784858 RCV003798659 RCV003790732 RCV003802890 RCV003802966 RCV003800608 RCV003803393 RCV003794756 RCV003800408 RCV003807084 RCV003810355 RCV000685092 RCV001852034 RCV001857364 RCV001377359 RCV002525013 RCV000516140 RCV001851419 RCV000634199 RCV000634200 RCV002534247 RCV001861684 RCV002535032 RCV000795171 RCV001223913 RCV002543015	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Likely pathogenic; Pathogenic	rs779134983, rs779472675, rs764514397, rs748514860, rs754911118, rs2105344578, rs199559023, rs371396651, rs2105291727, rs1559053862, rs1183062277, rs776301212, rs748598334, rs1685569880, rs749794837, rs772612775, rs771232897, rs2105292022, rs1686972152, rs2105344608, rs2105291679, rs895624584, rs906032090, rs769816345, rs773008707, rs2105343139, rs2105292027, rs2105291990, rs2105324384, rs1489728717, rs1686210975, rs769095855, rs2468197337, rs1409684471, rs2468144479, rs777508961, rs1455507192, rs1686814382, rs1382566648, rs2468244727, rs368907623, rs2468165481, rs202239983, rs2468212127, rs2468104296, rs1686811023, rs2468244716, rs779714510, rs773543112, rs2468180880, rs1686119579, rs2468169471, rs777162250, rs780125805, rs2468109553, rs2468176254, rs1241301882, rs1686551975, rs376746146, rs774811002, rs752998754, rs753627675, rs1451904718, rs1559075003, rs1244170961, rs2468212841, rs2468197052, rs1264683917, rs2468177005, rs1168548075, rs2468212452, rs140511594, rs766132877, rs185089786, rs773580610, rs79746977, rs775836730, rs1553506530, rs1553508246, rs760214276, rs369159801, rs867205119, rs1574070787, rs1685487857, rs748663904	RCV001382361 RCV003771652 RCV002568923 RCV003771653 RCV005225445 RCV001849653 RCV001931706 RCV001959531 RCV001951824 RCV001907441 RCV001937154 RCV001977593 RCV002033231 RCV001949256 RCV001896452 RCV002044728 RCV001993350 RCV001993354 RCV002024501 RCV001957156 RCV001873094 RCV001917908 RCV001941520 RCV001951217 RCV002001160 RCV001891984 RCV001934887 RCV001975032 RCV001949593 RCV002042111 RCV003068148 RCV003077854 RCV003085913 RCV003111908 RCV003111973 RCV003105352 RCV002577406 RCV002574296 RCV002653191 RCV002663069 RCV002671995 RCV002740663 RCV002770144 RCV002819660 RCV002810824 RCV002861734 RCV002866643 RCV002871522 RCV002871599 RCV002894538 RCV002899558 RCV002919026 RCV001383380 RCV002954230 RCV003023568 RCV003047027 RCV003785728 RCV003781589 RCV003784387 RCV003788454 RCV003784858 RCV003798659 RCV003790732 RCV003802890 RCV003802966 RCV003800608 RCV003803393 RCV003794756 RCV003800408 RCV003807084 RCV003810355 RCV000685092 RCV001852034 RCV001857364 RCV001377359 RCV002525013 RCV001851419 RCV000634199 RCV000634200 RCV002534247 RCV001861684 RCV002535032 RCV000795171 RCV001223913 RCV002543015	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis 12	Likely pathogenic; Pathogenic	rs779134983, rs749330118, rs2105363277, rs1685080096, rs779472675, rs2105291970, rs764514397, rs748514860, rs754911118, rs2105329247, rs2105344578, rs1183062277, rs776301212, rs771232897, rs906032090, rs1686838527, rs1686814382, rs2468244727, rs202239983, rs2468219408, rs773580610, rs1686551975, rs753627675, rs140511594, rs387907059, rs766132877, rs79746977, rs775836730, rs1559056633, rs867205119, rs1686809735	RCV002493924 RCV001391113 RCV001391115 RCV001536086 RCV001535854 RCV001535855 RCV001535953 RCV001536012 RCV005014601 RCV005014669 RCV002489903 RCV002503420 RCV002492195 RCV005025514 RCV002479576 RCV002287207 RCV005869865 RCV005025935 RCV005019381 RCV004577610 RCV004577612 RCV005392695 RCV005014971 RCV000023924 RCV000023925 RCV000023926 RCV005018816 RCV005027597 RCV002496988 RCV005018892 RCV003319402 RCV005027893 RCV001175229	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic syndrome	Likely pathogenic; Pathogenic	rs140511594	RCV001328175	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs766132877	RCV005888658	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal dysplasia and retinal aplasia	Likely pathogenic; Pathogenic	rs140511594, rs753627675	RCV001003236 RCV001003235	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs140511594, rs775836730	RCV001074967 RCV001074968	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY	Pathogenic	rs1553516241	RCV000656519	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short-rib thoracic dysplasia 6 with or without polydactyly	Pathogenic; Likely pathogenic	rs79746977, rs1553516687, rs759648976	RCV000515936 RCV000516137 RCV000516079	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TTC21B-related disorder	Likely pathogenic; Pathogenic	rs749330118, rs777508961, rs140511594, rs79746977	RCV004734166 RCV004725644 RCV004528134 RCV004541600	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Type IV short rib polydactyly syndrome	Likely pathogenic; Pathogenic	rs759086770, rs775836730	RCV000515826 RCV000516032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPHYXIATING THORACIC DYSPLASIA JEUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JEUNE SYNDROME	—	CTD, GWAS catalog, Orphanet CTD, GWAS catalog, Orphanet CTD, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome 1	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJEWSKI SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel-Gruber-like syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 2	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Conflicting classifications of pathogenicity; 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-POLYDACTYLY SYNDROME, BEEMER TYPE	—	Disgenet	★★☆☆☆ 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 4 WITH OR WITHOUT POLYDACTYLY	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asphyxiating Thoracic Dystrophy 1	Asphyxiating Thoracic Dystrophy	CTD_human_DG	21258341		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	Pubtator	30747064	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	23339108		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27847140		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28124483		★☆☆☆☆ 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	33547761	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	21068128, 32238723, 33547761, 33875766, 35695966	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	21258341, 26940125, 28124483		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	26940125		★☆☆☆☆ 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
Finnish congenital nephrotic syndrome	Finnish Congenital Nephrotic Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	26940125		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	32238723, 33547761, 34435324, 35289079	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	CLINVAR_DG	24876116, 26940125		★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	33547761	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	35289079	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	26940125		★☆☆☆☆ Found in Text Mining only
Infantile nephronophthisis	Nephronophthisis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune syndrome	Jeune Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune syndrome	Jeune syndrome	Pubtator	31935347, 33547761	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	CLINVAR_DG	21258341, 24876116		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	ORPHANET_DG	21258341, 22791528		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	CTD_human_DG	21258341		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	GENOMICS_ENGLAND_DG	24876116		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kidney Diseases	Kidney Disease	CTD_human_DG	21258341		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	24876116, 26940125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	32238723, 35289079	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	28124483		★☆☆☆☆ Found in Text Mining only
Liver cyst	Liver Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	30747064	Associate	★☆☆☆☆ Found in Text Mining only
Majewski Syndrome	Majewski Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Majewski Syndrome	Majewski Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	31730647		★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	26940125		★☆☆☆☆ Found in Text Mining only
Myopia Degenerative	Myopia	Pubtator	30747064	Associate	★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	BEFREE	26940125		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	BEFREE	26940125		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	CLINVAR_DG	21258341, 24876116		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Nephronophthisis	GENOMICS_ENGLAND_DG	24876116		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Nephronophthisis	BEFREE	26940125, 28124483		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Nephronophthisis	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 12	Nephronophthisis	UNIPROT_DG	21258341, 22425360		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 12	Nephronophthisis	GENOMICS_ENGLAND_DG	24876116		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 12	Nephronophthisis	CLINVAR_DG	24876116, 26940125		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 12	Nephronophthisis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 2	Nephronophthisis	ORPHANET_DG	21258341		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 2	Nephronophthisis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	32238723, 33547761, 35289079	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	32238723	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	35289079	Associate	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Saldino-Noonan Syndrome	Asphyxiating thoracic dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senior Loken Syndrome	Senior-loken syndrome	Pubtator	35695966	Associate	★☆☆☆☆ Found in Text Mining only
Senior-Loken Syndrome 1	Senior-Loken Syndrome	CLINVAR_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-polydactyly syndrome, Beemer type	Short Rib-Polydactyly Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY	Short Rib-Polydactyly Syndrome	UNIPROT_DG	21258341		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY	Short Rib-Polydactyly Syndrome	GENOMICS_ENGLAND_DG	24876116		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY	Short Rib-Polydactyly Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY	SHORT-RIB THORACIC DYSPLASIA WITH POLYDACTYLY	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Situs Inversus	Situs inversus	Pubtator	33547761	Associate	★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Cystica	Spina Bifida Cystica	BEFREE	31730647		★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only