DNAI1 (dynein axonemal intermediate chain 1)

Gene

• Entrez ID: 27019
• Gene name: Dynein axonemal intermediate chain 1
• Gene symbol: DNAI1
• Synonyms (NCBI Gene): CILD1, DIC1, ICS1, PCD, oda6
• Chromosome: 9
• Chromosome location: 9p13.3
• Summary: This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generati

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11793196	G>A,T	Likely-pathogenic, benign, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs79833450	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs116938457	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200411544	G>-	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Intron variant
rs200488444	G>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Splice acceptor variant, coding sequence variant, missense variant
rs200669099	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs202213517	C>T	Benign, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs368248592	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs376252276	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs397515563	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs606231164	->AATA	Pathogenic	Coding sequence variant, frameshift variant
rs606231165	CCAAGGTCTTCA>-	Pathogenic	Inframe deletion, coding sequence variant
rs751920647	C>-	Pathogenic	Coding sequence variant, stop gained
rs767667443	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs769224534	C>A,G,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant, stop gained
rs769284314	G>A	Pathogenic	Coding sequence variant, stop gained
rs772686744	G>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs876657683	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs878854968	C>G	Pathogenic	Coding sequence variant, stop gained
rs1060503495	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503515	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1465404366	G>T	Pathogenic	Splice donor variant
rs1587067513	T>G	Likely-pathogenic	Splice donor variant
rs1587089935	G>A	Likely-pathogenic	Splice acceptor variant
rs1587091911	G>T	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2213322	hsa-miR-3649	CLIP-seq
MIRT2213323	hsa-miR-383	CLIP-seq
MIRT2213324	hsa-miR-4433	CLIP-seq
MIRT2213325	hsa-miR-4459	CLIP-seq
MIRT2213326	hsa-miR-4481	CLIP-seq
MIRT2213327	hsa-miR-4717-3p	CLIP-seq
MIRT2213328	hsa-miR-4745-5p	CLIP-seq
MIRT2213329	hsa-miR-4768-3p	CLIP-seq
MIRT2213330	hsa-miR-4772-5p	CLIP-seq
MIRT2213331	hsa-miR-492	CLIP-seq
MIRT2213332	hsa-miR-615-5p	CLIP-seq
MIRT2213323	hsa-miR-383	CLIP-seq
MIRT2213324	hsa-miR-4433	CLIP-seq
MIRT2213325	hsa-miR-4459	CLIP-seq
MIRT2213326	hsa-miR-4481	CLIP-seq
MIRT2213327	hsa-miR-4717-3p	CLIP-seq
MIRT2213328	hsa-miR-4745-5p	CLIP-seq
MIRT2213329	hsa-miR-4768-3p	CLIP-seq
MIRT2213330	hsa-miR-4772-5p	CLIP-seq
MIRT2213331	hsa-miR-492	CLIP-seq
MIRT2213332	hsa-miR-615-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003341	Process	Cilium movement	IBA
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IMP	11231901
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0003774	Function	Cytoskeletal motor activity	TAS	10577904
GO:0005515	Function	Protein binding	IPI	23664119, 33139725
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	TAS	10577904
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IDA	27120127
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	TAS	10577904
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	IMP	11231901, 17515466, 22499950
GO:0007507	Process	Heart development	IEA
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030286	Component	Dynein complex	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	11231901, 18492703
GO:0036157	Component	Outer dynein arm	IBA
GO:0036157	Component	Outer dynein arm	IMP	11231901, 16858015
GO:0036158	Process	Outer dynein arm assembly	IBA
GO:0036158	Process	Outer dynein arm assembly	IMP	11231901, 15750039, 16858015, 18950741
GO:0042995	Component	Cell projection	IEA
GO:0045503	Function	Dynein light chain binding	IBA
GO:0045504	Function	Dynein heavy chain binding	IBA
GO:0097386	Component	Glial cell projection	IEA
GO:0097729	Component	9+2 motile cilium	IEA
GO:0120293	Component	Dynein axonemal particle	IEA

Other IDs

• MIM: 604366
• HGNC: 2954
• e!Ensembl: ENSG00000122735

Protein

• UniProt ID: Q9UI46
• Protein name: Dynein axonemal intermediate chain 1 (Axonemal dynein intermediate chain 1)
• Protein function: Part of the dynein complex of respiratory cilia.
• PDB: 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	530 → 569	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in respiratory ciliated cells (at protein level). {ECO:0000269|PubMed:33263282}.
• Sequence:

  MIPASAKAPHKQPHKQSISIGRGTRKRDEDSGTEVGEGTDEWAQSKATVRPPDQLELTDA
  ELKEEFTRILTANNPHAPQNIVRYSFKEGTYKPIGFVNQLAVHYTQVGNLIPKDSDEGRR
  QHYRDELVAGSQESVKVISETGNLEEDEEPKELETEPGSQTDVPAAGAAEKVTEEELMTP
  KQPKERKLTNQFNFSERASQTYNNPVRDRECQTEPPPRTNFSATANQWEIYDAYVEELEK
  QEKTKEKEKAKTPVAKKSGKMAMRKLTSMESQTDDLIKLSQAAKIMERMVNQNTYDDIAQ
  DFKYYDDAADEYRDQVGTLLPLWKFQNDKAKRLSVTALCWNPKYRDLFAVGYGSYDFMKQ
  SRGMLLLYSLKNPSFPEYMFSSNSGVMCLDIHVDHPYLVAVGHYDGNVAIYNLKKPHSQP
  SFCSSAKSGKHSDPVWQVKWQKDDMDQNLNFFSVSSDGRIVSWTLVKRKLVHIDVIKLKV
  EGSTTEVPEGLQLHPVGCGTAFDFHKEIDYMFLVGTEEGKIYKCSKSYSSQFLDTYDAHN
  MSVDTVSWNPYHTKVFMSCSSDWTVKIWDHTIKTPMFIYDLNSAVGDVAWAPYSSTVFAA
  VTTDGKAHIFDLAINKYEAICNQPVAAKKNRLTHVQFNLIHPIIIVGDDRGHIISLKLSP
  NLRKMPKEKKGQEVQKGPAVEIAKLDKLLNLVREVKIKT

• Sequence length: 699

Pathways

KEGG:

Motor proteins
Amyotrophic lateral sclerosis
Huntington disease
Pathways of neurodegeneration - multiple diseases

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
DNAI1-related disorder	Pathogenic; Likely pathogenic	rs397515363, rs79833450, rs876657683, rs201120508, rs2492034750, rs747121305, rs376252276	RCV004754247 RCV003407285 RCV004754360 RCV004584648 RCV003416850 RCV003424200 RCV003390758	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kartagener syndrome	Likely pathogenic; Pathogenic	rs1268770869, rs775831317, rs904790792, rs2132057423, rs1405276816, rs1587085165, rs2132083938, rs1168493593, rs749302505, rs763505357, rs2132068900, rs867262419, rs2132057443, rs1371519471, rs1345403701, rs2492058692, rs2132072131, rs2492033381, rs397515363, rs606231164, rs79833450, rs606231165, rs876657683, rs769284314, rs200669099, rs201120508, rs1024654594, rs939569468, rs1294734737, rs1060503515, rs751920647, rs368248592, rs376252276, rs397515563, rs926347298, rs1825102855	RCV005040238 RCV004796617 RCV005050362 RCV005040255 RCV001542672 RCV001580695 RCV001780988 RCV002282605 RCV005361853 RCV005635244 RCV002498019 RCV005040466 RCV005860293 RCV005050573 RCV005254696 RCV005045295 RCV003614200 RCV005044976 RCV000005954 RCV000005955 RCV000005956 RCV000005957 RCV005044437 RCV002500798 RCV000763195 RCV005044504 RCV005047667 RCV005047752 RCV005047799 RCV001782959 RCV005046936 RCV005046969 RCV000055932 RCV000055933 RCV003234003 RCV005049786 RCV001283790	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia	Likely pathogenic; Pathogenic	rs2132057443, rs532919927, rs1268770869, rs775831317, rs376252276, rs2132084012, rs904790792, rs2132057373, rs2132057423, rs2132061817, rs1824564676, rs2132065290, rs1290572246, rs2132076740, rs2132081341, rs1405276816, rs1168493593, rs2132081705, rs1266767011, rs749302505, rs763505357, rs2132068900, rs2132060982, rs1188227820, rs2132063305, rs2132086495, rs1392661120, rs2132076893, rs2132065273, rs2132083804, rs2132076876, rs867262419, rs2132071947, rs1465404366, rs2132034522, rs2132077044, rs2132086408, rs2492032478, rs1371519471, rs2492096457, rs1345403701, rs908149058, rs1824556879, rs2492058692, rs1416324075, rs2132072131, rs2492033381, rs2492120752, rs397515363, rs79833450, rs2492025436, rs2492033394, rs2492044745, rs2491983663, rs2132076769, rs2491983430, rs2492136755, rs2492033549, rs2492058503, rs2492072326, rs2492127338, rs876657683, rs878854968, rs769284314, rs200669099, rs201120508, rs1824451856, rs138954776, rs762611736, rs1824446213, rs1024654594, rs397515563, rs1824590832, rs2492126891, rs1824643950, rs2492032587, rs1823881286, rs1372668734, rs748929117, rs2492072291, rs2492096070, rs939569468, rs2492126192, rs2492136416, rs2492127795, rs1379578270, rs2492094676, rs746647838, rs2492026077, rs1023413642, rs1294734737, rs2492038105, rs2492075310, rs2492033561, rs1060503495, rs1060503515, rs769224534, rs747121305, rs751920647, rs368248592, rs148810969, rs1587089935, rs1587067513, rs1587091911, rs1196979432, rs926347298, rs1825102855, rs748042738, rs1825084931, rs1824564325, rs1825189052, rs1370523337, rs1824533495, rs767667443, rs1825188115	RCV001377638 RCV001378385 RCV001378038 RCV001378338 RCV001379375 RCV001376757 RCV001377875 RCV001383381 RCV001384088 RCV001384782 RCV001389185 RCV001390677 RCV001389846 RCV001388813 RCV001383767 RCV002032539 RCV001869873 RCV001849593 RCV002036637 RCV001978710 RCV001942384 RCV002011185 RCV001929928 RCV002048682 RCV001891366 RCV001933942 RCV001874925 RCV001908008 RCV001989075 RCV002022236 RCV001953418 RCV001912243 RCV002029461 RCV001978177 RCV001987117 RCV002020203 RCV002009002 RCV001983838 RCV002457016 RCV002406075 RCV003060117 RCV003081119 RCV003073909 RCV003067146 RCV003097656 RCV002620031 RCV002573144 RCV002770098 RCV002800829 RCV000230151 RCV000468431 RCV002833760 RCV002839224 RCV002843512 RCV002847671 RCV002898622 RCV002858382 RCV002948143 RCV002982390 RCV003045360 RCV003035000 RCV003043816 RCV003051732 RCV000216627 RCV000232560 RCV000228761 RCV000231603 RCV000538706 RCV003301534 RCV003536055 RCV003537615 RCV003539015 RCV003538973 RCV003536579 RCV003535183 RCV003536721 RCV003536725 RCV003536622 RCV003647373 RCV003649797 RCV003651151 RCV003652350 RCV003651247 RCV003651201 RCV003651277 RCV003651262 RCV003651269 RCV003652460 RCV003652503 RCV003653967 RCV003653785 RCV003649924 RCV003649925 RCV003651578 RCV003834352 RCV003830076 RCV003861165 RCV000466842 RCV000473781 RCV000525621 RCV000629374 RCV000629474 RCV000691848 RCV000707353 RCV000694022 RCV000795563 RCV000797597 RCV000822101 RCV000536539 RCV000698002 RCV001067358 RCV001214751 RCV001224667 RCV001201947 RCV001212000 RCV001210157 RCV001216195 RCV001232528 RCV001237426 RCV001245468 RCV001229173 RCV001255241 RCV001255242	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Respiratory ciliopathies including non-CF bronchiectasis	Pathogenic	rs368248592	RCV005646779	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF NASOPHARYNX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
POLYNESIAN BRONCHIECTASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CILIARY DYSKINESIA 1	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthenozoospermia	Asthenozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29940967, 31711989		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	GENOMICS_ENGLAND_DG	18950741		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	31471703		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	7640213	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	11231901	Associate	★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	CLINVAR_DG	10577904, 16858015, 21270641, 23477994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	UNIPROT_DG	11231901, 25186273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	GENOMICS_ENGLAND_DG	11231901, 18950741		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	CTD_human_DG	19675306		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_DG	10577904, 11231901, 11713099, 16858015, 18434704, 19675306, 21143860, 21270641, 26918822, 29363216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	11231901, 15750039, 16055928, 16858015, 18434704, 19300481, 21143860, 22499950, 25186273, 28801648, 30300419, 33577779, 34445527, 37598471, 37998386	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Communicating Hydrocephalus	Communicating Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	21143860	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29940967		★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	28747146		★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	22499950	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	15495266		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypereosinophilia	Hypereosinophilia	BEFREE	9809037		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	33574797	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	33574797	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29759924		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	11231901, 16858015, 17272866, 19300481, 22416021, 31711989		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kartagener Syndrome	Kartagener Syndrome	CTD_human_DG	19675306		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24839966		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29325479		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31721037		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	9809037		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	9809037		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27333945		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19660860, 27333945, 29299667		★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24839966		★☆☆☆☆ Found in Text Mining only
Polynesian Bronchiectasis	Kartagener syndrome	CTD_human_DG	19675306		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	10577904, 11231901, 11713099, 15750039, 16055928, 16858015, 17272866, 18270537, 18434704, 19300481, 21143860, 22416021, 22499950, 26123568, 26918822, 28649564, 28922052, 30238669, 31430425, 31711989		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Prostate carcinoma	Prostate cancer	BEFREE	29325479		★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	BEFREE	25039884		★☆☆☆☆ Found in Text Mining only
Purpura Fulminans	Purpura Fulminans	BEFREE	25039884		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	8540685		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	26918822		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	11231901		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs inversus	Pubtator	11231901	Associate	★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	8540685		★☆☆☆☆ Found in Text Mining only