DNAAF3 (dynein axonemal assembly factor 3)

Gene

• Entrez ID: 352909
• Gene name: Dynein axonemal assembly factor 3
• Gene symbol: DNAAF3
• Synonyms (NCBI Gene): C19orf51, CILD2, DAB1, PCD, PF22
• Chromosome: 19
• Chromosome location: 19q13.42
• Summary: The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2).

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907151	A>G	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs387907152	G>A	Pathogenic	Stop gained, coding sequence variant
rs543369426	C>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs745465871	->A	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017491	hsa-miR-335-5p	Microarray	18185580
MIRT619083	hsa-miR-3646	HITS-CLIP	23824327
MIRT619081	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT619080	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT619079	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT619078	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT619077	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT619076	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT619083	hsa-miR-3646	HITS-CLIP	23824327
MIRT619082	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT619081	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT619080	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT619079	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT619078	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT619077	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT619076	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT528571	hsa-miR-433-5p	PAR-CLIP	22012620
MIRT528570	hsa-miR-3155a	PAR-CLIP	22012620
MIRT528569	hsa-miR-3155b	PAR-CLIP	22012620
MIRT528568	hsa-miR-484	PAR-CLIP	22012620
MIRT528567	hsa-miR-4645-5p	PAR-CLIP	22012620
MIRT528566	hsa-miR-4673	PAR-CLIP	22012620
MIRT528565	hsa-miR-939-3p	PAR-CLIP	22012620
MIRT528564	hsa-miR-6852-5p	PAR-CLIP	22012620
MIRT528563	hsa-miR-6742-3p	PAR-CLIP	22012620
MIRT528562	hsa-miR-1250-5p	PAR-CLIP	22012620
MIRT528561	hsa-miR-6511a-3p	PAR-CLIP	22012620
MIRT528560	hsa-miR-6511b-3p	PAR-CLIP	22012620
MIRT528559	hsa-miR-2115-5p	PAR-CLIP	22012620
MIRT528558	hsa-miR-516a-3p	PAR-CLIP	22012620
MIRT528557	hsa-miR-516b-3p	PAR-CLIP	22012620
MIRT528556	hsa-miR-7162-5p	PAR-CLIP	22012620
MIRT528555	hsa-miR-4284	PAR-CLIP	22012620
MIRT528554	hsa-miR-1343-3p	PAR-CLIP	22012620
MIRT528553	hsa-miR-6783-3p	PAR-CLIP	22012620
MIRT528552	hsa-miR-1302	PAR-CLIP	22012620
MIRT528551	hsa-miR-4298	PAR-CLIP	22012620
MIRT445828	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT445827	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT445826	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT445825	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT445824	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT445823	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT445822	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT445821	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT445820	hsa-miR-34a-5p	PAR-CLIP	22100165
MIRT445819	hsa-miR-34c-5p	PAR-CLIP	22100165
MIRT445818	hsa-miR-449a	PAR-CLIP	22100165
MIRT445817	hsa-miR-449b-5p	PAR-CLIP	22100165
MIRT445816	hsa-miR-548au-3p	PAR-CLIP	22100165
MIRT445828	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT445827	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT445826	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT445825	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT445824	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT445823	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT445822	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT445821	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT445820	hsa-miR-34a-5p	PAR-CLIP	22100165
MIRT445819	hsa-miR-34c-5p	PAR-CLIP	22100165
MIRT445818	hsa-miR-449a	PAR-CLIP	22100165
MIRT445817	hsa-miR-449b-5p	PAR-CLIP	22100165
MIRT445816	hsa-miR-548au-3p	PAR-CLIP	22100165
MIRT619083	hsa-miR-3646	HITS-CLIP	23824327
MIRT619081	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT619080	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT619079	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT619078	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT619077	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT619076	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT619083	hsa-miR-3646	HITS-CLIP	23824327
MIRT619082	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT619081	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT619080	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT619079	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT619078	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT619077	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT619076	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT528571	hsa-miR-433-5p	PAR-CLIP	22012620
MIRT528570	hsa-miR-3155a	PAR-CLIP	22012620
MIRT528569	hsa-miR-3155b	PAR-CLIP	22012620
MIRT528568	hsa-miR-484	PAR-CLIP	22012620
MIRT528567	hsa-miR-4645-5p	PAR-CLIP	22012620
MIRT528566	hsa-miR-4673	PAR-CLIP	22012620
MIRT528565	hsa-miR-939-3p	PAR-CLIP	22012620
MIRT528564	hsa-miR-6852-5p	PAR-CLIP	22012620
MIRT528563	hsa-miR-6742-3p	PAR-CLIP	22012620
MIRT528562	hsa-miR-1250-5p	PAR-CLIP	22012620
MIRT528561	hsa-miR-6511a-3p	PAR-CLIP	22012620
MIRT528560	hsa-miR-6511b-3p	PAR-CLIP	22012620
MIRT528559	hsa-miR-2115-5p	PAR-CLIP	22012620
MIRT528558	hsa-miR-516a-3p	PAR-CLIP	22012620
MIRT528557	hsa-miR-516b-3p	PAR-CLIP	22012620
MIRT528556	hsa-miR-7162-5p	PAR-CLIP	22012620
MIRT528555	hsa-miR-4284	PAR-CLIP	22012620
MIRT528554	hsa-miR-1343-3p	PAR-CLIP	22012620
MIRT528553	hsa-miR-6783-3p	PAR-CLIP	22012620
MIRT528552	hsa-miR-1302	PAR-CLIP	22012620
MIRT528551	hsa-miR-4298	PAR-CLIP	22012620
MIRT445828	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT445827	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT445826	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT445825	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT445824	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT445823	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT445822	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT445821	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT445820	hsa-miR-34a-5p	PAR-CLIP	22100165
MIRT445819	hsa-miR-34c-5p	PAR-CLIP	22100165
MIRT445818	hsa-miR-449a	PAR-CLIP	22100165
MIRT445817	hsa-miR-449b-5p	PAR-CLIP	22100165
MIRT445816	hsa-miR-548au-3p	PAR-CLIP	22100165
MIRT445828	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT445827	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT445826	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT445825	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT445824	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT445823	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT445822	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT445821	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT445820	hsa-miR-34a-5p	PAR-CLIP	22100165
MIRT445819	hsa-miR-34c-5p	PAR-CLIP	22100165
MIRT445818	hsa-miR-449a	PAR-CLIP	22100165
MIRT445817	hsa-miR-449b-5p	PAR-CLIP	22100165
MIRT445816	hsa-miR-548au-3p	PAR-CLIP	22100165

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030324	Process	Lung development	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0044458	Process	Motile cilium assembly	IBA
GO:0044458	Process	Motile cilium assembly	IMP	22387996
GO:0070286	Process	Axonemal dynein complex assembly	IBA
GO:0070286	Process	Axonemal dynein complex assembly	IEA
GO:0070286	Process	Axonemal dynein complex assembly	IMP	22387996
GO:0072520	Process	Seminiferous tubule development	IEA
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:0120293	Component	Dynein axonemal particle	IEA
GO:0120293	Component	Dynein axonemal particle	ISS

Other IDs

• MIM: 614566
• HGNC: 30492
• e!Ensembl: ENSG00000167646

Protein

• UniProt ID: Q8N9W5
• Protein name: Dynein axonemal assembly factor 3
• Protein function: Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14737	DUF4470	16 → 122	Domain of unknown function (DUF4470)	Family
  PF14740	DUF4471	154 → 443	Domain of unknown function (DUF4471)	Domain

• Sequence:

  MTTPAGSGSGFGSVSWWGLSPALDLQAESPPVDPDSQADTVHSNPELDVLLLGSVDGRHL
  LRTLSRAKFWPRRRFNFFVLENNLEAVARHMLIFSLALEEPEKMGLQERSETFLEVWGNA
  LLRPPVAAFVRAQADLLAHLVPEPDRLEEQLPWLSLRALKFRERDALEAVFRFWAGGEKG
  PQAFPMSRLWDSRLRHYLGSRYDARRGVSDWDLRMKLHDRGAQVIHPQEFRRWRDTGVAF
  ELRDSSAYHVPNRTLASGRLLSYRGERVAARGYWGDIATGPFVAFGIEADDESLLRTSNG
  QPVKTAGEITQHNVTELLRDVAAWGRARATGGDLEEQQHAEGSPEPGTPAAPTPESFTVH
  FLPLNSAQTLHHKSCYNGRFQLLYVACGMVHLLIPELGACVAPGGNLIVELARYLVDVRQ
  EQLQGFNTRVRELAQAAGFAPQTGARPSETFARFCKSQESALGNTVPAVEPGTPPLDILA
  QPLEASNPALEGLTQPLQGGTPHCEPCQLPSESPGSLSEVLAQPQGALAPPNCESDSKTG
  V

• Sequence length: 541

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
Primary ciliary dyskinesia	Likely pathogenic; Pathogenic	rs2085781090, rs772829541, rs780701843, rs2085819579, rs2147297973, rs1384651581, rs2147311724, rs2147299107, rs1263006158, rs2515521686, rs2515521782, rs2515545899, rs2515545698, rs2085836426, rs760237737, rs2085848277, rs1040183266, rs1215112070, rs2515547984, rs1317129577, rs387907152, rs757536895, rs756430359, rs770143722, rs1060502831, rs372166228, rs745465871, rs1349668884, rs1159887305, rs770403610, rs543369426, rs748600370, rs763874734, rs2085791151, rs2085808203	RCV001386334 RCV001386958 RCV002544243 RCV002440873 RCV002388673 RCV001849598 RCV001964329 RCV001878692 RCV003095613 RCV002876096 RCV003032021 RCV003053850 RCV003047719 RCV003537600 RCV003535449 RCV003647551 RCV003651108 RCV003652602 RCV003653000 RCV003822242 RCV000629507 RCV000462954 RCV000477276 RCV000464578 RCV000458124 RCV000472407 RCV000526566 RCV000627048 RCV000705066 RCV000693702 RCV000696666 RCV003652445 RCV000817818 RCV001064248 RCV001203727	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia 2	Likely pathogenic; Pathogenic	rs2085781090, rs2085819579, rs779603085, rs2147297973, rs2515547820, rs1568865669, rs387907151, rs387907152, rs397515395, rs756430359, rs1060502831, rs1349668884, rs770403610	RCV005094520 RCV001780967 RCV001780969 RCV001806847 RCV003445425 RCV003486383 RCV000024243 RCV000024244 RCV000024245 RCV002250632 RCV005355853 RCV000585680 RCV000763441	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic	rs543369426	RCV005901696	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 2A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ 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 DYSKINESIA, PRIMARY, 2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF NASOPHARYNX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DDX41-related hematologic malignancy predisposition syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DNAAF3-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TYPE 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYNESIAN BRONCHIECTASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CILIARY DYSKINESIA, 2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	26061568		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35466940, 35977442, 38093390	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	21453247		★☆☆☆☆ Found in Text Mining only
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
Ataxia	Ataxia	Pubtator	29939198	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	32755029	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29969175		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	15820235, 23333377, 26285919		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	15820235		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	36039581	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30484953		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30484953	Inhibit	★☆☆☆☆ 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
Cerebellar atrophy	Cerebellar atrophy	BEFREE	26762856		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	29939198, 38396267	Associate	★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	ORPHANET_DG	22387996		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	CTD_human_DG	22387996		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 2 (disorder)	Ciliary Dyskinesia	UNIPROT_DG	22387996		★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 2 (disorder)	Ciliary Dyskinesia	GENOMICS_ENGLAND_DG	22387996		★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 2 (disorder)	Ciliary Dyskinesia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 2 (disorder)	Ciliary Dyskinesia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_DG	22387996		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	33577779	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	30127215	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	15820235, 26061568		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	35466940, 38093390	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	38093390	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25432929		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39199384	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ 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
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29472232		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29323929, 29940967		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	29323929	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33157955	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29518789		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29518789	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	18008369		★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	28747146		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	15175076		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	LHGDN	15175076		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29222813		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29222813		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	33157955	Associate	★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	15495266, 22387996		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	15820235, 26061568		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29759924		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33157955	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	26674333		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	17272866, 22387996, 31711989		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	CTD_human_DG	22387996		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	22387996		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	33157955	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30484953	Inhibit	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	28968791, 29581187		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30484953		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	18008369		★☆☆☆☆ 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	18008369, 25432929, 29222813, 31721037		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	36849558	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	26762856		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	33157955	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	GWASDB_DG	21221998		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	GWASCAT_DG	21221998		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19660860, 22163036, 29299667, 30484953		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22163036, 22614235		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	38093390	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	GWASDB_DG	21866343		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ 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
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	18008369		★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	27694961		★☆☆☆☆ Found in Text Mining only
Polynesian Bronchiectasis	Kartagener syndrome	CTD_human_DG	22387996		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polynesian Bronchiectasis	Kartagener syndrome	ORPHANET_DG	22387996		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	17272866, 22387996, 26123568, 28649564, 28922052, 30238669, 31186518, 31430425, 31711989		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	22387996		★★★★★ 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
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33064976	Associate	★☆☆☆☆ 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
Retinoblastoma	Retinoblastoma	BEFREE	22163036		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26762856, 9861036		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	8540685		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
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	22387996		★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 11	Spinocerebellar ataxia	Pubtator	28686858	Associate	★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 37	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	28686858, 29939198		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 37	Spinocerebellar Ataxia	BEFREE	29891931, 29939198, 30588707		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 37	Spinocerebellar Ataxia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia type 37	Spinocerebellar Ataxia	Orphanet	28686858		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	28686858	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26330360, 37711621	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	8540685		★☆☆☆☆ Found in Text Mining only