DNAH1 (dynein axonemal heavy chain 1)

Gene

• Entrez ID: 25981
• Gene name: Dynein axonemal heavy chain 1
• Gene symbol: DNAH1
• Synonyms (NCBI Gene): CILD37, DNAHC1, HDHC7, HL-11, HL11, HSRF-1, SPGF18, XLHSRF-1
• Chromosome: 3
• Chromosome location: 3p21.1
• Summary: This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple mo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs76591348	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs140883175	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs200416242	C>A,T	Pathogenic	Genic downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant, stop gained
rs544674332	A>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs557979163	->GG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs746049858	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs753307279	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs759646845	AGAG>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs759727960	C>T	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs762545991	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs765417610	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs766323732	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs767196276	G>A,C	Pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs779490893	CT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1131692234	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1131692250	G>A,C	Pathogenic	Splice acceptor variant
rs1131692251	T>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1297408310	TAAC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0003777	Function	Microtubule motor activity	NAS	9373155
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005858	Component	Axonemal dynein complex	NAS	9373155
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IMP	24360805
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007288	Process	Sperm axoneme assembly	IMP	24360805
GO:0008569	Function	Minus-end-directed microtubule motor activity	IBA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IEA
GO:0030286	Component	Dynein complex	IBA
GO:0030286	Component	Dynein complex	IEA
GO:0030317	Process	Flagellated sperm motility	IBA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	24360805
GO:0030317	Process	Flagellated sperm motility	IMP	27798045
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IBA
GO:0036126	Component	Sperm flagellum	IDA	11371505, 24360805
GO:0036126	Component	Sperm flagellum	IEA
GO:0036156	Component	Inner dynein arm	IDA	24360805
GO:0036156	Component	Inner dynein arm	IEA
GO:0036159	Process	Inner dynein arm assembly	IDA	24360805
GO:0036159	Process	Inner dynein arm assembly	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045505	Function	Dynein intermediate chain binding	IBA
GO:0045505	Function	Dynein intermediate chain binding	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IBA
GO:0051959	Function	Dynein light intermediate chain binding	IEA
GO:0060285	Process	Cilium-dependent cell motility	NAS	9373155
GO:0060294	Process	Cilium movement involved in cell motility	IEA

Other IDs

• MIM: 603332
• HGNC: 2940
• e!Ensembl: ENSG00000114841

Protein

• UniProt ID: Q9P2D7
• Protein name: Dynein axonemal heavy chain 1 (Axonemal beta dynein heavy chain 1) (Ciliary dynein heavy chain 1) (Heat shock regulated protein 1) (HSRF-1) (hDHC7)
• Protein function: Force generating protein of cilia required for sperm flagellum motility. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required in sperm
• PDB: 8I3J, 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08393	DHC_N2	1013 → 1416	Dynein heavy chain, N-terminal region 2	Family
  PF12774	AAA_6	1543 → 1869	Hydrolytic ATP binding site of dynein motor region	Domain
  PF17852	Dynein_AAA_lid	2037 → 2183	Dynein heavy chain AAA lid domain	Domain
  PF12775	AAA_7	2188 → 2369		Domain
  PF17857	AAA_lid_1	2412 → 2507	AAA+ lid domain	Domain
  PF12780	AAA_8	2556 → 2817	P-loop containing dynein motor region D4	Domain
  PF12777	MT	2830 → 3180	Microtubule-binding stalk of dynein motor	Domain
  PF12781	AAA_9	3204 → 3425	ATP-binding dynein motor region	Domain
  PF03028	Dynein_heavy	3668 → 3782	Dynein heavy chain region D6 P-loop domain	Domain
  PF18198	AAA_lid_11	3796 → 3953	Dynein heavy chain AAA lid domain	Domain
  PF18199	Dynein_C	3959 → 4261	Dynein heavy chain C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in brain (PubMed:11175280). {ECO:0000269|PubMed:11175280, ECO:0000269|PubMed:24360805, ECO:0000269|PubMed:9256245}.
• Sequence:

  MEQPNSKGYSLGRTPQGPECSSAPAVQVGTHRGLEYNPGKILPGSDYGLGNPPALDPKLP
  HLPLPPAPPTLSDLGQPRKSPLTGTDKKYPLMKQRGFYSDILSPGTLDQLGEVCRGPRMS
  QNLLRQADLDKFTPRVGSFEVPEDFQERMEQQCIGSTTRLLAQTDFPLQAYEPKMQVPFQ
  VLPGQHPRKIEIERRKQQYLSLDIEQLLFSQGIDSNKLMPRHLDHQHPQTIEQGHDPIFP
  IYLPLKVFDNEDFDCRTPREWINMGLEPGSLDRKPVPGKALLPTDDFLGHEDPKSQKLKY
  KWCEVGVLDYDEEKKLYLVHKTDEKGLVRDEMGRPILNAGVTTEGRPPLQVCQYWVPRIQ
  LLFCAEDPCMFAQRVVQANALRKNTEALLLYNLYVDCMPSDGQHVISEQSLSKIKQWALS
  TPRMRKGPSVLEHLSSLAREVSLDYERSMNKINFDHVVSSKPETFSYVTLPKKEEEQVPE
  RGLVSVPKYHFWEQKEDFTFVSLLTRPEVITALSKVRAECNKVTAMSLFHSSLSKYSHLE
  EFEQIQSQTFSQVQMFLKDSWISSLKVAMRSSLRDMSKGWYNLYETNWEVYLMSKLRKLM
  ELVKYMLQDTLRFLVQDSLASFSQFISDTCCSVLNCTDDMVWGDDLINSPYRPRKNPLFI
  MDLVLDSSGVHYSTPLEQFEASLLNLFDKGILATHAVPQLEKLVMEDIFISGDPLLESVG
  LHEPLVEELRATIASAVSKAMIPLQAYAKEYRKYLELNNNDIASFLKTYQTQGLLAQEVR
  EVVLTHLREKEILDSSLPSSIIIGPFYINTDNVKQSLSKKRKALATSVLDILAKNLHKEV
  DSICEEFRSISRKIYEKPNSIEELAELREWMKGIPERLVGLEERIVKVMDDYQVMDEFLY
  NLSSDDFNDKWIASNWPSKILGQIELVQQQHVEDEEKFRKIQIMDQNNFQEKLEGLQLVV
  AGFSIHVEISRAHEIANEVRRVKKQLKDCQQLAMLYNNRERIFSLPITNYDKLSRMVKEF
  QPYLDLWTTASDWLRWSESWMNDPLSAIDAEQLEKNVVEAFKTMHKCVKQFKDMPACQEV
  ALDIRARIEEFKPYIPLIQGLRNPGMRIRHWETLSNQININVRPKANLTFARCLEMNLQD
  HIESISKVAEVAGKEYAIEQALDKMEKEWSTILFNVLPYKATDTYILKSPDEASQLLDDH
  IVMTQNMSFSPYKKPFEQRINSWENKLKLTQEVLEEWLNCQRSWLYLEPIFSSEDINQQL
  PVESKRYQTMERIWKKIMKNAYENREVINVCSDLRMLDSLRDCNKILDLVQKGLSEYLET
  KRSAFPRFYFLSDDELLEILSQTKDPTAVQPHLRKCFENIARLLFQEDLEITHMYSAEGE
  EVQLCFSIYPSSNVEDWLREVERSMKASVHDIIEKAIRAYPTMPRTQWVLNWPGQVTIAG
  CQTYWTMEVAEALEAGNLRSQLFPQLCQQLSDLVALVRGKLSRMQRAVLSALIVIEVHAK
  DVVSKLIQENVVSVNDFQWISQLRYYWTNNDLYIRAVNAEFIYGYEYLGNSGRLVITPLT
  DRCYLTLTGALHLKFGGAPAGPAGTGKTETTKDLGKALAIQTVVFNCSDQLDFMAMGKFF
  KGLASAGAWACFDEFNRIDIEVLSVVAQQITTIQKAQQQRVERFMFEGVEIPLVPSCAVF
  ITMNPGYAGRTELPDNLKALFRPVAMMVPDYAMITEISLYSFGFNEASVLAKKITTTFKL
  SSEQLSSQDHYDFGMRAVKTVISAAGNLKRENPSMNEELICLRAIRDVNVPKFLQEDLKL
  FSGIVSDLFPTIKEEDTDYGILDEAIREACRNSNLKDVEGFLTKCIQLYETTVVRHGLML
  VGPTGSGKSTCYRVLAAAMTSLKGQPSISGGMYEAVNYYVLNPKSITMGQLYGEFDLLTH
  EWTDGIFSSFIRAGAITSDTNKKWYMFDGPVDAIWIENMNTVLDDNKKLCLSSGEIIKLT
  EAMTMMFEVQDLAVASPATVSRCGMVYLEPSILGLMPFIECWLRKLPPLLKPYEEHFKAL
  FVSFLEESISFVRSSVKEVIASTNCNLTMSLLKLLDCFFKPFLPREGLKKIPSEKLSRIV
  ELIEPWFIFSLIWSVGATGDSSGRTSFSHWLRLKMENEQLTLLFPEEGLVFDYRLEDAGI
  SGTNDSEDEEEEYKQVAWVKWMDSSAPFTMVPDTNYCNIIVPTMDTVQMSHLLDMLLTNK
  KPVLCIGPTGTGKTLTISDKLLKNLALDYISHFLTFSARTSANQTQDFIDSKLDKRRKGV
  FGPPLGRNFIFFIDDLNMPALETYGAQPPIELLRQWMDHGGWYDRKIIGAFKNLVDINFV
  CAMGPPGGGRNTVTPRLMRHFNYLSFAEMDEVSKKRIFSTILGNWLDGLLGEKSYRERVP
  GAPHIAHFTEPLVEATIMVYATITSQLLPTPAKSHYTFNLRDLSKVFQGMLMADPAKVED
  QVQLLRLWYHENCRVFRDRLVNEEDRSWFDQLLKRCMEQWEVTFNKVCPFQPILYGDFMS
  PGSDVKSYELITSESKMMQVIEEYIEDYNQINTAKLKLVLFMDAMSHICRISRTLRQALG
  NALLLGVGGSGRSSLTRLASHMAEYECFQIELSKNYGMSEWRDDVKKVLLKAGLQNLPIT
  FLFSDTQIKNESFLEDINNVLNSGDIPNLYTADEQDQIVSTMRPYIQEQGLQPTKANLMA
  AYTGRVRSNIHMVLCMSPIGEVFRARLRQFPSLVNCCTIDWFNEWPAEALKSVATVFLNE
  IPELESSQEEIQGLIQVCVYIHQSVSKKCIEYLAELTRHNYVTPKSYLELLHIFSILIGQ
  KKLELKTAKNRMKSGLDKLLRTSEDVAKMQEDLESMHPLLEEAAKDTMLTMEQIKVDTAI
  AEETRNSVQTEEIKANEKAKKAQAIADDAQKDLDEALPALDAALASLRNLNKNDVTEVRA
  MQRPPPGVKLVIEAVCIMKGIKPKKVPGEKPGTKVDDYWEPGKGLLQDPGHFLESLFKFD
  KDNIGDVVIKAIQPYIDNEEFQPATIAKVSKACTSICQWVRAMHKYHFVAKAVEPKRQAL
  LEAQDDLGVTQRILDEAKQRLREVEDGIATMQAKYRECITKKEELELKCEQCEQRLGRAG
  KLINGLSDEKVRWQETVENLQYMLNNISGDVLVAAGFVAYLGPFTGQYRTVLYDSWVKQL
  RSHNVPHTSEPTLIGTLGNPVKIRSWQIAGLPNDTLSVENGVINQFSQRWTHFIDPQSQA
  NKWIKNMEKDNGLDVFKLSDRDFLRSMENAIRFGKPCLLENVGEELDPALEPVLLKQTYK
  QQGNTVLKLGDTVIPYHEDFRMYITTKLPNPHYTPEISTKLTLINFTLSPSGLEDQLLGQ
  VVAEERPDLEEAKNQLIISNAKMRQELKDIEDQILYRLSSSEGNPVDDMELIKVLEASKM
  KAAEIQAKVRIAEQTEKDIDLTRMEYIPVAIRTQILFFCVSDLANVDPMYQYSLEWFLNI
  FLSGIANSERADNLKKRISNINRYLTYSLYSNVCRSLFEKHKLMFAFLLCVRIMMNEGKI
  NQSEWRYLLSGGSISIMTENPAPDWLSDRAWRDILALSNLPTFSSFSSDFVKHLSEFRVI
  FDSLEPHREPLPGIWDQYLDQFQKLLVLRCLRGDKVTNAMQDFVATNLEPRFIEPQTANL
  SVVFKDSNSTTPLIFVLSPGTDPAADLYKFAEEMKFSKKLSAISLGQGQGPRAEAMMRSS
  IERGKWVFFQNCHLAPSWMPALERLIEHINPDKVHRDFRLWLTSLPSNKFPVSILQNGSK
  MTIEPPRGVRANLLKSYSSLGEDFLNSCHKVMEFKSLLLSLCLFHGNALERHKFGPLGFN
  IPYEFTDGDLRICISQLKMFLDEYDDIPYKVLKYTAGEINYGGRVTDDWDRRCIMNILED
  FYNPDVLSPEHSYSASGIYHQIPPTYDLHGYLSYIKSLPLNDMPEIFGLHDNANITFAQN
  ETFALLGTIIQLQPKSSSAGSQGREEIVEDVTQNILLKVPEPINLQWVMAKYPVLYEESM
  NTVLVQEVIRYNRLLQVITQTLQDLLKALKGLVVMSSQLELMAASLYNNTVPELWSAKAY
  PSLKPLSSWVMDLLQRLDFLQAWIQDGIPAVFWISGFFFPQAFLTGTLQNFARKFVISID
  TISFDFKVMFEAPSELTQRPQVGCYIHGLFLEGARWDPEAFQLAESQPKELYTEMAVIWL
  LPTPNRKAQDQDFYLCPIYKTLTRAGTLSTTGHSTNYVIAVEIPTHQPQRHWIKRGVALI
  CALDY

• Sequence length: 4265

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
Ciliary dyskinesia, primary, 37	Pathogenic; Likely pathogenic	rs778209826, rs752041071, rs772998828, rs367692811, rs371940272, rs2153224037, rs1415820936, rs1701192142, rs759219188, rs1483000682, rs2153223851, rs1247282335, rs368033879, rs1268065530, rs1182690810, rs778973398, rs1020480721, rs1241577019, rs777765506, rs780451014, rs774298278, rs2153224076, rs2471256182, rs2471131093, rs544674332, rs960403439, rs2471187488, rs2471123795, rs1131692250, rs2471253329, rs2471193161, rs2471302472, rs2471216516, rs2471202406, rs2471206938, rs755572946, rs375839622, rs1201471880, rs201474620, rs1341552636, rs1483082477, rs1702844873, rs2471216959, rs2471182925, rs1701241345, rs753771532, rs772235528, rs1390552303, rs966601664, rs768361045, rs1210995618, rs757847775, rs2471269709, rs2471189312, rs753659345, rs2471292410, rs2471259886, rs775289921, rs2471297630, rs756713104, rs779490893, rs762545991, rs746049858, rs767196276, rs765417610, rs1297408310, rs376653399, rs759646845, rs766323732, rs759727960, rs1701330284, rs1704217868, rs1704650728, rs1704386838, rs369746640, rs765688686	RCV001963188 RCV001946628 RCV003780598 RCV005224558 RCV001335757 RCV001380692 RCV001650493 RCV001784113 RCV002028664 RCV002003123 RCV001923667 RCV001993316 RCV001913123 RCV003067199 RCV003061336 RCV003095412 RCV003099086 RCV003111906 RCV003112240 RCV002580631 RCV002597959 RCV002765410 RCV002726684 RCV002790326 RCV000495957 RCV002806464 RCV002820435 RCV002889576 RCV002894067 RCV002866293 RCV002881752 RCV002899488 RCV003023572 RCV003047778 RCV003047610 RCV003061823 RCV003232891 RCV003493276 RCV003785817 RCV003786017 RCV003784380 RCV003784390 RCV003797864 RCV003796017 RCV003780264 RCV003780494 RCV003788865 RCV003789433 RCV003785097 RCV003796184 RCV003798234 RCV003794625 RCV003791503 RCV003805505 RCV003804138 RCV003808704 RCV003802051 RCV003810111 RCV003812506 RCV003807240 RCV003805228 RCV004796206 RCV000554728 RCV002527960 RCV001390769 RCV000655824 RCV000655801 RCV000655816 RCV000702057 RCV000689405 RCV000799613 RCV001061508 RCV004994250 RCV004994251 RCV001217224 RCV001222655 RCV002568747	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DNAH1-related disorder	Pathogenic; Likely pathogenic	rs778209826, rs2471291875, rs2471221603, rs2471245358, rs1703538852, rs1483082477, rs767196276	RCV005232744 RCV003406163 RCV003422453 RCV003404469 RCV003392875 RCV003893396 RCV003420001	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kartagener syndrome	Likely pathogenic	rs544674332	RCV000190948	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-syndromic male infertility due to sperm motility disorder	Likely pathogenic	rs753307279	RCV000825634	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs772998828, rs369746640	RCV005934884 RCV005909054	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs779490893, rs746049858, rs765688686	RCV005355997 RCV005357622 RCV001255289	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 18	Pathogenic; Likely pathogenic	rs778209826, rs752041071, rs772998828, rs367692811, rs2153224037, rs1415820936, rs759219188, rs1483000682, rs2153223851, rs1247282335, rs368033879, rs1268065530, rs1182690810, rs778973398, rs1020480721, rs1241577019, rs777765506, rs780451014, rs774298278, rs2153224076, rs2471256182, rs2471131093, rs544674332, rs960403439, rs2471187488, rs2471123795, rs1131692250, rs2471253329, rs2471193161, rs2471302472, rs2471216516, rs2471202406, rs2471206938, rs745552903, rs1201471880, rs201474620, rs1341552636, rs1483082477, rs1702844873, rs2471216959, rs2471182925, rs1701241345, rs753771532, rs772235528, rs1390552303, rs966601664, rs768361045, rs1210995618, rs757847775, rs2471269709, rs2471189312, rs753659345, rs2471292410, rs2471259886, rs775289921, rs2471297630, rs756713104, rs1131692234, rs1131692251, rs779490893, rs762545991, rs746049858, rs767196276, rs765417610, rs1297408310, rs376653399, rs759646845, rs766323732, rs759727960, rs1701330284, rs1704386838, rs369746640, rs765688686, rs1703258379	RCV001963188 RCV001946628 RCV003780598 RCV005224558 RCV001380692 RCV001873823 RCV002028664 RCV002003123 RCV001923667 RCV001993316 RCV001913123 RCV003067199 RCV003061336 RCV003095412 RCV003099086 RCV003111906 RCV003112240 RCV002580631 RCV002597959 RCV002765410 RCV002726684 RCV002790326 RCV003765209 RCV002806464 RCV002820435 RCV002889576 RCV002894067 RCV002866293 RCV002881752 RCV002899488 RCV003023572 RCV003047778 RCV003047610 RCV003061823 RCV003153289 RCV003785817 RCV003786017 RCV003784380 RCV003784390 RCV003797864 RCV003796017 RCV003780264 RCV003780494 RCV003788865 RCV003789433 RCV003785097 RCV003796184 RCV003798234 RCV003794625 RCV003791503 RCV003805505 RCV003804138 RCV003808704 RCV003802051 RCV003810111 RCV003812506 RCV003807240 RCV003805228 RCV000495956 RCV000495959 RCV000495955 RCV000495960 RCV000554728 RCV000554092 RCV001390769 RCV000655824 RCV000655801 RCV000655816 RCV000702057 RCV000689405 RCV000799613 RCV001061508 RCV001217224 RCV001222655 RCV002568747 RCV001290741	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adams-Oliver syndrome 6	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL IMPAIRMENT OF SPERMATOZOA MOTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligosynaptic infertility	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian insufficiency	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERATOZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUMOR PREDISPOSITION SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	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
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	27094479, 27798045, 30122541, 30544445		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	28577616, 30544445	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	30544445		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	30544445	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	36017582	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	30544445		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis obliterans	Pubtator	33577779	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★☆☆☆☆ 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	ORPHANET_DG	25927852		★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	CLINVAR_DG	25927852		★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 37	Ciliary dyskinesia	CLINVAR_DG	11371505, 27573432		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CILIARY DYSKINESIA, PRIMARY, 37	Ciliary dyskinesia	UNIPROT_DG	25927852		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CILIARY DYSKINESIA, PRIMARY, 37	Ciliary dyskinesia	GENOMICS_ENGLAND_DG	28552195		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	24360805, 33577779, 37998386	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	24360805, 28577616, 36510862, 36896575	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	24360805, 30544445, 35017386, 36896575, 37302001	Associate	★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	24360805, 25927852		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	25927852		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-syndromic male infertility due to sperm motility disorder	Non-Syndromic Male Infertility Due To Sperm Motility Disorder	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Otitis Media with Effusion	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polynesian Bronchiectasis	Kartagener syndrome	ORPHANET_DG	25927852		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	24360805, 25927852		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	25927852		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right aortic arch (disorder)	Right aortic arch	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 18	Spermatogenic Failure	CLINVAR_DG	11371505, 27573432		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPERMATOGENIC FAILURE 18	Spermatogenic Failure	UNIPROT_DG	24360805, 27798045, 28552195, 29449551		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPERMATOGENIC FAILURE 18	Spermatogenic Failure	GENOMICS_ENGLAND_DG	28552195		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)