DNAH8 (dynein axonemal heavy chain 8)

Gene

• Entrez ID: 1769
• Gene name: Dynein axonemal heavy chain 8
• Gene symbol: DNAH8
• Synonyms (NCBI Gene): ATPase, SPGF46, hdhc9
• Chromosome: 6
• Chromosome location: 6p21.2
• Summary: The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144711161	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs145974361	G>A	Likely-pathogenic	Splice donor variant
rs149070832	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs200115379	A>C,G	Likely-pathogenic	Splice acceptor variant
rs376576474	G>A	Likely-pathogenic	Splice donor variant
rs567050969	C>T	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant
rs749731714	T>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs753496815	->GA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs756616538	G>A	Likely-pathogenic	Splice donor variant
rs766256391	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766707325	GACCCAT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs770372463	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs776176679	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs1561836628	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1562782355	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1582865345	G>A	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038978	hsa-miR-19b-1-5p	CLASH	23622248
MIRT646439	hsa-miR-8485	HITS-CLIP	23824327
MIRT646438	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT646437	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT646436	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT646435	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT646434	hsa-miR-4420	HITS-CLIP	23824327
MIRT646439	hsa-miR-8485	HITS-CLIP	23824327
MIRT646438	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT646437	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT646436	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT646435	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT646434	hsa-miR-4420	HITS-CLIP	23824327
MIRT2213319	hsa-miR-1265	CLIP-seq
MIRT2213320	hsa-miR-2392	CLIP-seq
MIRT2213321	hsa-miR-651	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003777	Function	Microtubule motor activity	IMP	32619401
GO:0003777	Function	Microtubule motor activity	NAS	9373155
GO:0005524	Function	ATP binding	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	IDA	31178125
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	IMP	32619401
GO:0007018	Process	Microtubule-based movement	IEA
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	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IBA
GO:0036126	Component	Sperm flagellum	IDA	31178125
GO:0036126	Component	Sperm flagellum	IMP	32619401
GO:0036157	Component	Outer dynein arm	IBA
GO:0036158	Process	Outer dynein arm assembly	IBA
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	IBA
GO:0097729	Component	9+2 motile cilium	IEA

Other IDs

• MIM: 603337
• HGNC: 2952
• e!Ensembl: ENSG00000124721

Protein

• UniProt ID: Q96JB1
• Protein name: Dynein axonemal heavy chain 8 (Axonemal beta dynein heavy chain 8) (Ciliary dynein heavy chain 8)
• Protein function: Force generating protein component of the outer dynein arms (ODAs) in the sperm flagellum. 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08385	DHC_N1	139 → 693	Dynein heavy chain, N-terminal region 1	Family
  PF08393	DHC_N2	1268 → 1673	Dynein heavy chain, N-terminal region 2	Family
  PF12774	AAA_6	1808 → 2135	Hydrolytic ATP binding site of dynein motor region	Domain
  PF17852	Dynein_AAA_lid	2290 → 2410	Dynein heavy chain AAA lid domain	Domain
  PF12775	AAA_7	2417 → 2598		Domain
  PF17857	AAA_lid_1	2632 → 2727	AAA+ lid domain	Domain
  PF12780	AAA_8	2790 → 3052	P-loop containing dynein motor region D4	Domain
  PF12777	MT	3065 → 3415	Microtubule-binding stalk of dynein motor	Domain
  PF12781	AAA_9	3439 → 3660	ATP-binding dynein motor region	Domain
  PF03028	Dynein_heavy	3905 → 4015	Dynein heavy chain region D6 P-loop domain	Domain
  PF18198	AAA_lid_11	4029 → 4185	Dynein heavy chain AAA lid domain	Domain
  PF18199	Dynein_C	4191 → 4487	Dynein heavy chain C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in spermatozoa (at protein level). Not detected in airway epithelial cells (at protein level). {ECO:0000269|PubMed:31178125}.
• Sequence:

  MMKLYIDNAAPDKLKGLCIFFVRCRNDVAINVKTIQEEALFTVLDASKGLLNGIRDMLAN
  IFLPAVLATNNWGALNQSKQGESEKHIFTETINRYLSFLDGARISIEGTVKLKTIDNVNF
  SKLHTFEEVTAAASNSETVHQLEEVLMVWYKQIEQVLIESEQMRKEAGDSGPLTELEHWK
  RMSAKFNYIIEQIKGPSCKAVINVLNVAHSKLLKNWRDLDARITDTANESKDNVRYLYTL
  EKVCQPLYNHDLVSMAHGIQNLINAIRMIHGVSRYYNTSERMTSLFIKVTNQMVTACKAY
  ITDGGLNHVWDQETPVVLKKIQDCIFLFKEYQASFHKTRKLISESSGEKSFEVSEMYIFG
  KFEAFCKRLEKITEMITVVQTYSTLSNSTIEGIDIMAIKFRNIYQGVKKKQYDILDPRRT
  EFDTDFLDFMTKINGLEVQIQAFMNSSFGKILSSQQALQLLQRFQKLNIPCLGLEINHTI
  ERILQYYVAELDATKKLYHSQKDDPPLARNMPPIAGKILWVRQLYRRISEPINYFFKNSD
  ILSSPDGKAVIRQYNKISYVLVEFEVVYHTAWIREISQLHYALQATLFVRHPETGKLLVN
  FDPKILEVVRETKCMIKMKLDVPEQAKRLLKLESKLKADKLYLQGLLQYYDELCQEVPSV
  FVNLMTPKMKKVESVLRQGLTVLTWSSLTLESFFQEVELVLDMFNQLLKKISDLCEMHID
  TVLKEIAKTVLISLPESGATKVEDMLTLNETYTKEWADILNHKSKHVEEAVRELISIFEQ
  IYEVKYTGKVGKQSEQRKHVVFGSETGEGENNDYEANIVNEFDTHDKEDEFKKECKEVFA
  FFSHQLLDSLQKATRLSLDTMKRRIFVASLYGRKQSEDIISFIKSEVHLAIPNVVMIPSL
  DDIQQAINRMIQLTLEVSRGVAHWGQQQIRPIKSVIPSPTTTDVTHQNTGKLLKKEERSF
  EEAIPARKLKNFYPGVAEHKDISKLVLLLSSSVNSLRKAAHEALQDFQKYKTLWTEDRDV
  KVKEFLANNPSLTEIRSEILHYATFEQEIDELKPIIVVGALELHTEPMKLALSIEAKAWK
  MLLCRYLNEEYKKKMSYMIAFINEYLKKLSRPIRDLDDVRFAMEALSCIRDNEIQMDMTL
  GPIEEAYAILNRFEVEVTKEESEAVDTLRYSFNKLQSKAVSVQEDLVQVQPKFKSNLLES
  VEVFREDVINFAEAYELEGPMVPNIPPQEASNRLQIFQASFDDLWRKFVTYSSGEQLFGL
  PVTDYEVLHKTRKELNLLQKLYGLYDTVMSSISGYYEILWGDVDIEKINAELLEFQNRCR
  KLPKGLKDWQAFLDLKKRIDDFSESCPLLEMMTNKAMKQRHWDRISELTGTPFDVESDSF
  CLRNIMEAPLLKHKDDIEDICISAIKEKDIEAKLTQVIENWTNQNLSFAAFKGKGELLLK
  GTESGEIITLMEDSLMVLGSLLSNRYNAPFKKNIQNWVYKLSTSSDIIEEWLVVQNLWVY
  LEAVFVGGDIAKQLPQEAKRFQNIDKSWIKIMQRAHENPNVINCCVGDETMGQLLPHLHE
  QLEVCQKSLTGYLEKKRLLFPRFFFVSDPVLLEILGQASDSHTIQPHLPAVSDNINEVTF
  HAKDYDRIMAVISREGEKIVLDNSVMAKGPVEIWLLDLLKMQMSSLHNIIRSAFYQISDS
  GFQLLPFLSHFPAQVGLLGIQMLWTHDSEEALRNAKDDRKIMQVTNQKFLDILNTLISQT
  THDLSKFDRVKFETLITIHVHQRDIFDDLVKMHIKSPTDFEWLKQSRFYFKEDLDQTVVS
  ITDVDFIYQNEFLGCTDRLVITPLTDRCYITLAQALGMNMGGAPAGPAGTGKTETTKDMG
  RCLGKYVVVFNCSDQMDFRGLGRIFKGLAQSGSWGCFDEFNRIELPVLSVAAQQIYIVLT
  ARKERKKQFIFSDGDCVDLNPEFGIFLTMNPGYAGRQELPENLKIQFRTVAMMVPDRQII
  MRVKLASCGFLENVILAQKFYVLYKLCEEQLTKQVHYDFGLRNILSVLRTLGSQKRARPE
  DSELSIVMRGLRDMNLSKLVDEDEPLFLSLINDLFPGLQLDSNTYAELQNAVAHQVQIEG
  LINHPPWNLKLVQLYETSLVRHGLMTLGPSGSGKTTVITILMKAQTECGRPHREMRMNPK
  AITAPQMFGRLDTATNDWTDGIFSTLWRKTLKAKKGENIFLILDGPVDAIWIENLNSVLD
  DNKTLTLANGDRIPMAPSCKLLFEVHNIENASPATVSRMGMVYISSSALSWRPILQAWLK
  KRTAQEAAVFLTLYEKVFEDTYTYMKLNLNPKMQLLECNYIVQSLNLLEGLIPSKEEGGV
  SCVEHLHKLFVFGLMWSLGALLELESREKLEAFLRQHESKLDLPEIPKGSNQTMYEFYVT
  DYGDWEHWNKKLQPYYYPTDSIPEYSSILVPNVDNIRTNFLIDTIAKQHKAVLLTGEQGT
  AKTVMVKAYLKKYDPEVQLSKSLNFSSATEPMMFQRTIESYVDKRIGSTYGPPGGRKMTV
  FIDDINMPVINEWGDQITNEIVRQMMEMEGMYSLDKPGDFTTIVDVQLIAAMIHPGGGRN
  DIPQRLKRQFTVFNCTLPSNASIDKIFGIIGCGYFDPCRSFKPQICEMIVNLVSVGRVLW
  QWTKVKMLPTPSKFHYIFNLRDLSRIWQGMLTIKAEECASIPTLLSLFKHECSRVIADRF
  ITPEDEQWFNAHLTRAVEENIGSDAASCILPEPYFVDFLREMPEPTGDEPEDSVFEVPKI
  YELMPSFDFLAEKLQFYQRQFNEIIRGTSLDLVFFKDAMTHLIKISRIIRTSCGNALLVG
  VGGSGKQSLSRLASFIAGYQIFQITLTRSYNVTNLTDDLKALYKVAGADGKGITFIFTDS
  EIKDEAFLEYLNNLLSSGEISNLFARDEMDEITQGLISVMKRELPRHPPTFDNLYEYFIS
  RSRKNLHVVLCFSPVGEKFRARSLKFPGLISGCTMDWFSRWPREALIAVASYFLSDYNIV
  CSSEIKRQVVETMGLFHDMVSESCESYFQRYRRRAHVTPKSYLSFINGYKNIYAEKVKFI
  NEQAERMNIGLDKLMEASESVAKLSQDLAVKEKELAVASIKADEVLAEVTVSAQASAKIK
  NEVQEVKDKAQKIVDEIDSEKVKAESKLEAAKPALEEAEAALNTIKPNDIATVRKLAKPP
  HLIMRIMDCVLLLFQKKIDPVTMDPEKSCCKPSWGESLKLMSATGFLWSLQQFPKDTINE
  ETVELLQPYFNMDDYTFESAKKVCGNVAGLLSWTLAMAIFYGINREVLPLKANLAKQEGR
  LAVANAELGKAQALLDEKQAELDKVQAKFDAAMNEKMDLLNDADTCRKKMQAASTLIDGL
  SGEKIRWTQQSKEFKAQINRLVGDILLCTGFLSYLGPFNQIFRNYLLKDQWEMELRARKI
  PFTENLNLISMLVDPPTIGEWGLQGLPGDDLSIQNGIIVTKATRYPLLIDPQTQGKTWIK
  SKEKENDLQVTSLNHKYFRTHLEDSLSLGRPLLIEDIHEELDPALDNVLEKNFIKSGTTF
  KVKVGDKECDIMDTFKLYITTKLPNPAFTPEINAKTSVIDFTVTMKGLENQLLRRVILTE
  KQELEAERVKLLEDVTFNKRKMKELEDNLLYKLSATKGSLVDDESLIGVLRTTKQTAAEV
  SEKLHVAAETEIKINAAQEEFRPAATRGSILYFLITEMSMVNIMYQTSLAQFLKLFDQSM
  ARSEKSPLPQKRITNIIEYLTYEVFTYSVRGLYENHKFLFVLLMTLKIDLQRGTVKHREF
  QALIKGGAALDLKACPPKPYRWILDMTWLNLVELSKLPQFAEIMNQISRNEKGWKSWFDK
  DAPEEEIIPDGYNDSLDTCHKLLLIRSWCPDRTVFQARKYIADSLEEKYTEPVILNLEKT
  WEESDTRTPLICFLSMGSDPTNQIDALAKKLKLECRTISMGQGQEVHARKLIQMSMQQGG
  WVLLQNCHLGLEFMEELLETLITTEASDDSFRVWITTEPHDRFPITLLQTSLKFTNEPPQ
  GVRAGLKRTFAGINQDLLDISNLPMWKPMLYTVAFLHSTVQERRKFGPLGWNIPYEFNSA
  DFSASVQFIQNHLDECDIKKGVSWNTVRYMIGEVQYGGRVTDDFDKRLLNCFARVWFSEK
  MFEPSFCFYTGYKIPLCKTLDQYFEYIQSLPSLDNPEVFGLHPNADITYQSNTASAVLET
  ITNIQPKESGGGVGETREAIVYRLSEDMLSKLPPDYIPHEVKSRLIKMGHLNSMNIFLRQ
  EIDRMQRVISILRSSLSDLKLAIEGTIIMSENLRDALDNMYDARIPQLWKRVSWDSSTLG
  FWFTELLERNAQFSTWIFEGRPNVFWMTGFFNPQGFLTAMRQEVTRAHKGWALDTVTIHN
  EVLRQTKEEITSPPGEGVYIYGLYMDGAAWDRRNGKLMESTPKVLFTQLPVLHIFAINST
  APKDPKLYVCPIYKKPRRTDLTFITVVYLRTVLSPDHWILRGVALLCDIK

• Sequence length: 4490

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
DNAH8-related disorder	Likely pathogenic; Pathogenic	rs144711161, rs2532361573, rs2533985932, rs758035061	RCV003417812 RCV003419156 RCV003392957 RCV003394395	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited obesity	Pathogenic	rs149070832	RCV005414539	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs2127637299, rs767180208, rs1297488496, rs2150536009, rs765386646, rs150428096, rs1299196993, rs201568629, rs777610268, rs777613343, rs2150520528, rs2150400998, rs1250753880, rs781634544, rs781128315, rs771580014, rs1032638497, rs199969537, rs753062783, rs769126261, rs2533394646, rs2532519909, rs201009563, rs2533556336, rs776079621, rs753926744, rs1190884969, rs2532682220, rs144711161, rs758035061, rs1438128043, rs2533205148, rs1430752700, rs748507521, rs781224411, rs754334951, rs375764737, rs2533985399, rs1216207042, rs2533205504, rs751151452, rs753024616, rs2534078747, rs756919169, rs2532975061, rs2533918431, rs2533701153, rs2533450264, rs1488305206, rs2533069131, rs2533212514, rs2533317859, rs1775234077, rs754547680, rs752991804, rs765139051, rs777912337, rs776257226, rs1769760726, rs1771404948, rs369304378, rs766256391, rs1554132747, rs376576474, rs753496815, rs766707325, rs1437893220, rs770372463, rs749731714, rs145974361, rs1561836628, rs376903331, rs769929539, rs756616538, rs776176679, rs1562782355, rs1223799853, rs776791493, rs149070832, rs747123680, rs1582865345, rs200115379, rs372080325, rs1416631904, rs753831132, rs756851431, rs545867507, rs1769605097, rs1772190647, rs1768809177, rs747550558, rs752692263	RCV001387978 RCV001389130 RCV001383007 RCV001389347 RCV001386198 RCV001386442 RCV001382267 RCV001924917 RCV001950767 RCV001946690 RCV001916141 RCV002002540 RCV001958677 RCV002040921 RCV003058658 RCV003086020 RCV003076050 RCV002579020 RCV002662549 RCV002653693 RCV002819923 RCV002837619 RCV002866859 RCV002872214 RCV002886195 RCV002882237 RCV002957927 RCV003047773 RCV000228661 RCV005099991 RCV003536113 RCV003536427 RCV003537554 RCV003537647 RCV003538933 RCV003539123 RCV003539061 RCV003536904 RCV003537014 RCV003536743 RCV003538241 RCV003648024 RCV003647514 RCV003647292 RCV003647293 RCV003651099 RCV003651096 RCV003651152 RCV003651190 RCV003651191 RCV003652359 RCV003652659 RCV003652777 RCV003649861 RCV003650057 RCV003650178 RCV003650275 RCV003651667 RCV003651357 RCV003651704 RCV003838907 RCV003872247 RCV000461675 RCV000535093 RCV000545575 RCV000524761 RCV000629379 RCV000629371 RCV000629354 RCV000629385 RCV000704988 RCV000686591 RCV000704751 RCV000685592 RCV000700010 RCV000700884 RCV000689710 RCV000703864 RCV000690985 RCV000809648 RCV000822721 RCV000813448 RCV000794179 RCV000803454 RCV001046662 RCV001048431 RCV001213978 RCV001225896 RCV001230655 RCV001226235 RCV001247703 RCV001243071 RCV003652117	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spermatogenic failure 46	Likely pathogenic; Pathogenic	rs199969537, rs2533558063, rs2533098735, rs766707325, rs376903331, rs776176679, rs753831132, rs1563044711, rs752692263, rs1762922751	RCV005356284 RCV003989172 RCV003990632 RCV005367463 RCV004760742 RCV005633645 RCV005400485 RCV001265116 RCV001265119 RCV001265120	★★★★★ 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
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BELL'S PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORBID OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARANOIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARANOID DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent infections	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent infections of the middle ear	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent respiratory infections	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE 5	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★☆☆☆ 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	30382367		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	26475856	Associate	★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	31401139		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	30382367		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15489859, 28298638		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	33611675, 37417617	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	28807751	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15489859, 28298638		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19058785, 20872768, 21418141, 24342563		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	20872768	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	31646509		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bloom Syndrome	Bloom syndrome	Pubtator	17878217, 19671661	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28264934, 29098413		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19889640, 23639630, 34329194, 9774623	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23233483, 30981109	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36319832	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34870494	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	32649682, 6147348	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26899534		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	25928149, 27203155		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	31578282	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic Familial	Cardiomyopathy	Pubtator	8981935	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	25225809, 28176257		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	14596793		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	29431870		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	28807751, 35110381	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	22892528	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	BEFREE	23060447		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	30225882		★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_DG	24307375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	24307375, 37998386	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15063740, 33476933	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35754345	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	Pubtator	28807751	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	28807751	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	17515962		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	15247151, 19808301, 22405774, 22548568, 24164241, 27203155, 29018025, 29117223, 30069393, 30135432, 30225882, 30286210, 30299255		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	22472319		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27824360		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32693025	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	18058006		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	18058006		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	18025464, 23665564	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23665564	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29431870		★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	19506019, 22270372, 26475856	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	20698827		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	28871039, 35110381	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	29668857		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	25276049	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29668857		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32748370	Stimulate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	10686557		★☆☆☆☆ Found in Text Mining only
Facioscapulohumeral Muscular Dystrophy 1B	Facioscapulohumeral muscular dystrophy	Pubtator	31312724	Associate	★☆☆☆☆ Found in Text Mining only
Familial benign pemphigus	Benign Pemphigus	BEFREE	28264934		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	22792409	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	22270372, 26475856	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	28303975		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	34944008	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35220010	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	32693025	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	12151382, 23515276	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	22548568, 24164241		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	15247151, 19808301, 22405774, 22548568, 24164241, 27203155, 29018025, 29117223, 30069393, 30135432, 30286210, 30299255		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	36834924	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	11415452, 12968035, 14514926, 15205462, 17634212, 18974300, 19364131	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	28856630		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	33796077	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31115510		★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	BEFREE	28303975		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	33611675, 33704367	Associate	★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	BEFREE	15208303		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	15146020, 15228605, 9221962	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31178587	Associate	★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	BEFREE	27055500		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14522593, 30981109		★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	24630891	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	14522593		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	34360842	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31883965, 40311306	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28264934, 29098413		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	28707966		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26899534		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18058006, 20028336, 28707966, 28760856		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30237863		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	PSYGENET_DG	22520507, 24342563		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19784067	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	9688544		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	9221962	Associate	★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	BEFREE	24056782		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27824360		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	35110381	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	9221962	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	19735676	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	24658080	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	31365291		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	29051551		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	28728608	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28303975		★☆☆☆☆ Found in Text Mining only
Myopathy Myosin Storage	Myosin storage myopathy	Pubtator	8981935	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20028336, 26899534, 30237863		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	34059105, 35132656	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31795302		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24878061, 26475856, 36316435	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30995564, 31646509		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	27824360		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28881834		★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	28807751	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27532680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteitis Deformans	Paget disease	BEFREE	28303975		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	26899534		★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian cysts	Pubtator	33235102	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26899534		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25686833, 29559470	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Acute Necrotizing	Pancreatitis	Pubtator	9221962	Associate	★☆☆☆☆ Found in Text Mining only
Paranoia	Paranoia	CTD_human_DG	18438686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	19097176	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	31132336	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	34059105	Associate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	28303975		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	27486783		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	BEFREE	23060447		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27363033, 37301535	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26736064	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31115510		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29294050, 29788096		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	27072132	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27623077		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	21310790	Associate	★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	BEFREE	31034958		★☆☆☆☆ Found in Text Mining only
Sitosterolemia	Sitosterolemia	Pubtator	33228147	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	36316435	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28298638		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	24344137	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	17515962		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	26079849	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric syndrome	Pubtator	20176027	Associate	★☆☆☆☆ Found in Text Mining only
Triosephosphate Isomerase Deficiency	Triose phosphate isomerase deficiency	Pubtator	9294216	Stimulate	★☆☆☆☆ Found in Text Mining only