Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	1778
Gene name	Dynein cytoplasmic 1 heavy chain 1
Gene symbol	DYNC1H1
Synonyms (NCBI Gene)	CDCBM13CMT2ODHC1DHC1aDNCH1DNCLDNECLDYHCDnchc1HL-3SMALED1p22
Chromosome	14
Chromosome location	14q32.31
Summary	Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transp

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SNP ID	Visualize variation	Clinical significance	Consequence
rs34338935	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs35546990	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs117846737	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant
rs140841480	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign, likely-benign	Coding sequence variant, synonymous variant
rs141525226	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142883042	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs145487328	C>G,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs146075696	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs146220233	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs150286673	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs150687712	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs186932188	G>A	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs372740994	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs373636519	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs373682811	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs387906738	A>G	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs387906740	G>A	Pathogenic	Coding sequence variant, missense variant
rs387906741	A>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs387906742	A>G	Pathogenic	Coding sequence variant, missense variant
rs387906743	A>G	Pathogenic	Coding sequence variant, missense variant
rs397509410	G>T	Pathogenic	Coding sequence variant, missense variant
rs397509411	G>A	Pathogenic	Coding sequence variant, missense variant
rs397509412	G>A	Pathogenic	Coding sequence variant, missense variant
rs547205132	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587780564	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587781253	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs713993043	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727505393	G>A,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs749647281	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs755411424	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs757725348	C>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs760532492	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs760971556	C>A,G	Uncertain-significance, likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs763711252	A>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs766837403	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs772002773	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs794727634	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs797044901	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs797044918	AAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs797044928	G>A	Pathogenic	Coding sequence variant, missense variant
rs797045177	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs797045178	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs797045535	G>A	Likely-pathogenic, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs863223361	G>A	Pathogenic	Coding sequence variant, missense variant
rs866242352	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs869312693	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253881	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253956	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253971	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs879253979	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs879254019	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs879254085	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs879254112	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs879254164	C>T	Pathogenic	Coding sequence variant, missense variant
rs879254267	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs879254284	G>A,C	Likely-pathogenic	Intron variant
rs1047509819	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518083	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057518250	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518287	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518776	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518935	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518961	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523839	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795677	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796765	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1327664377	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1383117534	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555408829	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555409836	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555409850	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555410010	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555410129	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555411143	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555411305	C>T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs1555411378	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555411394	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555411399	G>A	Pathogenic	Coding sequence variant, missense variant
rs1566999047	A>C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1567010427	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1567018763	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1567019064	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1595597572	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1595597963	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1595599240	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1595605449	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1595608413	A>G	Likely-pathogenic	Splice acceptor variant
rs1595609005	C>T	Likely-pathogenic	Missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023355	hsa-miR-122-5p	Microarray	17612493
MIRT052059	hsa-let-7b-5p	CLASH	23622248
MIRT049178	hsa-miR-92a-3p	CLASH	23622248
MIRT048724	hsa-miR-96-5p	CLASH	23622248
MIRT046872	hsa-miR-221-3p	CLASH	23622248
MIRT045390	hsa-miR-149-5p	CLASH	23622248
MIRT045390	hsa-miR-149-5p	CLASH	23622248
MIRT040034	hsa-miR-615-3p	CLASH	23622248
MIRT037838	hsa-miR-455-3p	CLASH	23622248
MIRT440765	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT440763	hsa-miR-409-5p	HITS-CLIP	24374217
MIRT440762	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT440761	hsa-miR-544a	HITS-CLIP	24374217
MIRT440765	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT440763	hsa-miR-409-5p	HITS-CLIP	24374217
MIRT440762	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT440761	hsa-miR-544a	HITS-CLIP	24374217
MIRT948805	hsa-miR-4691-5p	CLIP-seq
MIRT948806	hsa-miR-516a-3p	CLIP-seq
MIRT1981176	hsa-miR-1238	CLIP-seq
MIRT1981177	hsa-miR-4297	CLIP-seq
MIRT1981176	hsa-miR-1238	CLIP-seq
MIRT2216243	hsa-miR-3591-5p	CLIP-seq
MIRT2216244	hsa-miR-4255	CLIP-seq
MIRT2436902	hsa-miR-150	CLIP-seq
MIRT2436903	hsa-miR-362-5p	CLIP-seq
MIRT2436904	hsa-miR-3667-3p	CLIP-seq
MIRT2436905	hsa-miR-3692	CLIP-seq
MIRT948805	hsa-miR-4691-5p	CLIP-seq
MIRT2436906	hsa-miR-4774-5p	CLIP-seq
MIRT2436907	hsa-miR-500b	CLIP-seq
MIRT2436908	hsa-miR-501-5p	CLIP-seq
MIRT948806	hsa-miR-516a-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	15161933, 17043677, 17500595, 17548833, 21163940, 31092558, 31413325, 32814053, 35271311, 36692009, 36950384, 38547289
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21399614, 28602352
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005868	Component	Cytoplasmic dynein complex	IBA
GO:0005868	Component	Cytoplasmic dynein complex	IDA	21723285, 25272277
GO:0005868	Component	Cytoplasmic dynein complex	IEA
GO:0005868	Component	Cytoplasmic dynein complex	IPI	24986880
GO:0005868	Component	Cytoplasmic dynein complex	NAS	8666668
GO:0005874	Component	Microtubule	IDA	21525035
GO:0005874	Component	Microtubule	IEA
GO:0005881	Component	Cytoplasmic microtubule	IBA
GO:0005938	Component	Cell cortex	IBA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007052	Process	Mitotic spindle organization	IBA
GO:0007052	Process	Mitotic spindle organization	NAS	8227145
GO:0007097	Process	Nuclear migration	IBA
GO:0008090	Process	Retrograde axonal transport	IBA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IDA	21723285
GO:0008569	Function	Minus-end-directed microtubule motor activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030175	Component	Filopodium	IEA
GO:0030286	Component	Dynein complex	IEA
GO:0031122	Process	Cytoplasmic microtubule organization	IBA
GO:0032388	Process	Positive regulation of intracellular transport	IMP	27462074
GO:0032388	Process	Positive regulation of intracellular transport	NAS	33957056
GO:0033962	Process	P-body assembly	IEA
GO:0033962	Process	P-body assembly	ISS
GO:0034063	Process	Stress granule assembly	IEA
GO:0034063	Process	Stress granule assembly	ISS
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042802	Function	Identical protein binding	IDA	28602352
GO:0045505	Function	Dynein intermediate chain binding	IBA
GO:0045505	Function	Dynein intermediate chain binding	IEA
GO:0051293	Process	Establishment of spindle localization	IMP	23027904
GO:0051301	Process	Cell division	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IBA
GO:0051959	Function	Dynein light intermediate chain binding	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IPI	25272277
GO:0060236	Process	Regulation of mitotic spindle organization	IMP	23027904
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 21362503, 23533145
GO:0090235	Process	Regulation of metaphase plate congression	IMP	27462074
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	20887786
GO:1904115	Component	Axon cytoplasm	IEA
GO:1905832	Process	Positive regulation of spindle assembly	IMP	27462074

MIM	HGNC	e!Ensembl
600112	2961	ENSG00000197102

Q14204

Protein name

Cytoplasmic dynein 1 heavy chain 1 (Cytoplasmic dynein heavy chain 1) (Dynein heavy chain, cytosolic)

Protein function

Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Plays a role in mit

PDB

5NUG , 5OWO , 6F1T , 6F1U , 6F1V , 6F1Y , 6F38 , 6F3A , 7Z8F , 7Z8G , 7Z8H , 7Z8I , 7Z8J , 7Z8K , 7Z8L , 8DYU , 8DYV , 8FCY , 8FD6 , 8FDT , 8FDU , 8PQV , 8PQW , 8PQY , 8PQZ , 8PR0 , 8PR1 , 8PR2 , 8PR3 , 8PTK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03028	Dynein_heavy	4036 → 4146	Dynein heavy chain region D6 P-loop domain	Domain
PF08385	DHC_N1	242 → 832	Dynein heavy chain, N-terminal region 1	Family
PF08393	DHC_N2	1319 → 1720	Dynein heavy chain, N-terminal region 2	Family
PF12774	AAA_6	1868 → 2231	Hydrolytic ATP binding site of dynein motor region	Domain
PF12775	AAA_7	2557 → 2739		Domain
PF12777	MT	3199 → 3536	Microtubule-binding stalk of dynein motor	Domain
PF12780	AAA_8	2907 → 3186	P-loop containing dynein motor region D4	Domain
PF12781	AAA_9	3560 → 3780	ATP-binding dynein motor region	Domain
PF17852	Dynein_AAA_lid	2423 → 2550	Dynein heavy chain AAA lid domain	Domain
PF18198	AAA_lid_11	4160 → 4327	Dynein heavy chain AAA lid domain	Domain
PF18199	Dynein_C	4333 → 4644	Dynein heavy chain C-terminal domain	Domain

Sequence

MSEPGGGGGEDGSAGLEVSAVQNVADVSVLQKHLRKLVPLLLEDGGEAPAALEAALEEKS
ALEQMRKFLSDPQVHTVLVERSTLKEDVGDEGEEEKEFISYNINIDIHYGVKSNSLAFIK
RTPVIDADKPVSSQLRVLTLSEDSPYETLHSFISNAVAPFFKSYIRESGKADRDGDKMAP
SVEKKIAELEMGLLHLQQNIEIPEISLPIHPMITNVAKQCYERGEKPKVTDFGDKVEDPT
FLNQLQSGVNRWIREIQKVTKLDRDPASGTALQEISFWLNLERALYRIQEKRESPEVLLT
LDILKHGKRFHATVSFDTDTGLKQALETVNDYNPLMKDFPLNDLLSATELDKIRQALVAI
FTHLRKIRNTKYPIQRALRLVEAISRDLSSQLLKVLGTRKLMHVAYEEFEKVMVACFEVF
QTWDDEYEKLQVLLRDIVKRKREENLKMVWRINPAHRKLQARLDQMRKFRRQHEQLRAVI
VRVLRPQVTAVAQQNQGEVPEPQDMKVAEVLFDAADANAIEEVNLAYENVKEVDGLDVSK
EGTEAWEAAMKRYDERIDRVETRITARLRDQLGTAKNANEMFRIFSRFNALFVRPHIRGA
IREYQTQLIQRVKDDIESLHDKFKVQYPQSQACKMSHVRDLPPVSGSIIWAKQIDRQLTA
YMKRVEDVLGKGWENHVEGQKLKQDGDSFRMKLNTQEIFDDWARKVQQRNLGVSGRIFTI
ESTRVRGRTGNVLKLKVNFLPEIITLSKEVRNLKWLGFRVPLAIVNKAHQANQLYPFAIS
LIESVRTYERTCEKVEERNTISLLVAGLKKEVQALIAEGIALVWESYKLDPYVQRLAETV
FNFQEKVDDLLIIEEKIDLEVRSLETCMYDHKTFSEILNRVQKAVDDLNLHSYSNLPIWV
NKLDMEIERILGVRLQAGLRAWTQVLLGQAEDKAEVDMDTDAPQVSHKPGGEPKIKNVVH
ELRITNQVIYLNPPIEECRYKLYQEMFAWKMVVLSLPRIQSQRYQVGVHYELTEEEKFYR
NALTRMPDGPVALEESYSAVMGIVSEVEQYVKVWLQYQCLWDMQAENIYNRLGEDLNKWQ
ALLVQIRKARGTFDNAETKKEFGPVVIDYGKVQSKVNLKYDSWHKEVLSKFGQMLGSNMT
EFHSQISKSRQELEQHSVDTASTSDAVTFITYVQSLKRKIKQFEKQVELYRNGQRLLEKQ
RFQFPPSWLYIDNIEGEWGAFNDIMRRKDSAIQQQVANLQMKIVQEDRAVESRTTDLLTD
WEKTKPVTGNLRPEEALQALTIYEGKFGRLKDDREKCAKAKEALELTDTGLLSGSEERVQ
VALEELQDLKGVWSELSKVWEQIDQMKEQPWVSVQPRKLRQNLDALLNQLKSFPARLRQY
ASYEFVQRLLKGYMKINMLVIELKSEALKDRHWKQLMKRLHVNWVVSELTLGQIWDVDLQ
KNEAIVKDVLLVAQGEMALEEFLKQIREVWNTYELDLVNYQNKCRLIRGWDDLFNKVKEH
INSVSAMKLSPYYKVFEEDALSWEDKLNRIMALFDVWIDVQRRWVYLEGIFTGSADIKHL
LPVETQRFQSISTEFLALMKKVSKSPLVMDVLNIQGVQRSLERLADLLGKIQKALGEYLE
RERSSFPRFYFVGDEDLLEIIGNSKNVAKLQKHFKKMFAGVSSIILNEDNSVVLGISSRE
GEEVMFKTPVSITEHPKINEWLTLVEKEMRVTLAKLLAESVTEVEIFGKATSIDPNTYIT
WIDKYQAQLVVLSAQIAWSENVETALSSMGGGGDAAPLHSVLSNVEVTLNVLADSVLMEQ
PPLRRRKLEHLITELVHQRDVTRSLIKSKIDNAKSFEWLSQMRFYFDPKQTDVLQQLSIQ
MANAKFNYGFEYLGVQDKLVQTPLTDRCYLTMTQALEARLGGSPFGPAGTGKTESVKALG
HQLGRFVLVFNCDETFDFQAMGRIFVGLCQVGAWGCFDEFNRLEERMLSAVSQQVQCIQE
ALREHSNPNYDKTSAPITCELLNKQVKVSPDMAIFITMNPGYAGRSNLPDNLKKLFRSLA
MTKPDRQLIAQVMLYSQGFRTAEVLANKIVPFFKLCDEQLSSQSHYDFGLRALKSVLVSA
GNVKRERIQKIKREKEERGEAVDEGEIAENLPEQEILIQSVCETMVPKLVAEDIPLLFSL
LSDVFPGVQYHRGEMTALREELKKVCQEMYLTYGDGEEVGGMWVEKVLQLYQITQINHGL
MMVGPSGSGKSMAWRVLLKALERLEGVEGVAHIIDPKAISKDHLYGTLDPNTREWTDGLF
THVLRKIIDSVRGELQKRQWIVFDGDVDPEWVENLNSVLDDNKLLTLPNGERLSLPPNVR
IMFEVQDLKYATLATVSRCGMVWFSEDVLSTDMIFNNFLARLRSIPLDEGEDEAQRRRKG
KEDEGEEAASPMLQIQRDAATIMQPYFTSNGLVTKALEHAFQLEHIMDLTRLRCLGSLFS
MLHQACRNVAQYNANHPDFPMQIEQLERYIQRYLVYAILWSLSGDSRLKMRAELGEYIRR
ITTVPLPTAPNIPIIDYEVSISGEWSPWQAKVPQIEVETHKVAAPDVVVPTLDTVRHEAL
LYTWLAEHKPLVLCGPPGSGKTMTLFSALRALPDMEVVGLNFSSATTPELLLKTFDHYCE
YRRTPNGVVLAPVQLGKWLVLFCDEINLPDMDKYGTQRVISFIRQMVEHGGFYRTSDQTW
VKLERIQFVGACNPPTDPGRKPLSHRFLRHVPVVYVDYPGPASLTQIYGTFNRAMLRLIP
SLRTYAEPLTAAMVEFYTMSQERFTQDTQPHYIYSPREMTRWVRGIFEALRPLETLPVEG
LIRIWAHEALRLFQDRLVEDEERRWTDENIDTVALKHFPNIDREKAMSRPILYSNWLSKD
YIPVDQEELRDYVKARLKVFYEEELDVPLVLFNEVLDHVLRIDRIFRQPQGHLLLIGVSG
AGKTTLSRFVAWMNGLSVYQIKVHRKYTGEDFDEDLRTVLRRSGCKNEKIAFIMDESNVL
DSGFLERMNTLLANGEVPGLFEGDEYATLMTQCKEGAQKEGLMLDSHEELYKWFTSQVIR
NLHVVFTMNPSSEGLKDRAATSPALFNRCVLNWFGDWSTEALYQVGKEFTSKMDLEKPNY
IVPDYMPVVYDKLPQPPSHREAIVNSCVFVHQTLHQANARLAKRGGRTMAITPRHYLDFI
NHYANLFHEKRSELEEQQMHLNVGLRKIKETVDQVEELRRDLRIKSQELEVKNAAANDKL
KKMVKDQQEAEKKKVMSQEIQEQLHKQQEVIADKQMSVKEDLDKVEPAVIEAQNAVKSIK
KQHLVEVRSMANPPAAVKLALESICLLLGESTTDWKQIRSIIMRENFIPTIVNFSAEEIS
DAIREKMKKNYMSNPSYNYEIVNRASLACGPMVKWAIAQLNYADMLKRVEPLRNELQKLE
DDAKDNQQKANEVEQMIRDLEASIARYKEEYAVLISEAQAIKADLAAVEAKVNRSTALLK
SLSAERERWEKTSETFKNQMSTIAGDCLLSAAFIAYAGYFDQQMRQNLFTTWSHHLQQAN
IQFRTDIARTEYLSNADERLRWQASSLPADDLCTENAIMLKRFNRYPLIIDPSGQATEFI
MNEYKDRKITRTSFLDDAFRKNLESALRFGNPLLVQDVESYDPVLNPVLNREVRRTGGRV
LITLGDQDIDLSPSFVIFLSTRDPTVEFPPDLCSRVTFVNFTVTRSSLQSQCLNEVLKAE
RPDVDEKRSDLLKLQGEFQLRLRQLEKSLLQALNEVKGRILDDDTIITTLENLKREAAEV
TRKVEETDIVMQEVETVSQQYLPLSTACSSIYFTMESLKQIHFLYQYSLQFFLDIYHNVL
YENPNLKGVTDHTQRLSIITKDLFQVAFNRVARGMLHQDHITFAMLLARIKLKGTVGEPT
YDAEFQHFLRGNEIVLSAGSTPRIQGLTVEQAEAVVRLSCLPAFKDLIAKVQADEQFGIW
LDSSSPEQTVPYLWSEETPATPIGQAIHRLLLIQAFRPDRLLAMAHMFVSTNLGESFMSI
MEQPLDLTHIVGTEVKPNTPVLMCSVPGYDASGHVEDLAAEQNTQITSIAIGSAEGFNQA
DKAINTAVKSGRWVMLKNVHLAPGWLMQLEKKLHSLQPHACFRLFLTMEINPKVPVNLLR
AGRIFVFEPPPGVKANMLRTFSSIPVSRICKSPNERARLYFLLAWFHAIIQERLRYAPLG
WSKKYEFGESDLRSACDTVDTWLDDTAKGRQNISPDKIPWSALKTLMAQSIYGGRVDNEF
DQRLLNTFLERLFTTRSFDSEFKLACKVDGHKDIQMPDGIRREEFVQWVELLPDTQTPSW
LGLPNNAERVLLTTQGVDMISKMLKMQMLEDEDDLAYAETEKKTRTDSTSDGRPAWMRTL
HTTASNWLHLIPQTLSHLKRTVENIKDPLFRFFEREVKMGAKLLQDVRQDLADVVQVCEG
KKKQTNYLRTLINELVKGILPRSWSHYTVPAGMTVIQWVSDFSERIKQLQNISLAAASGG
AKELKNIHVCLGGLFVPEAYITATRQYVAQANSWSLEELCLEVNVTTSQGATLDACSFGV
TGLKLQGATCNNNKLSLSNAISTALPLTQLRWVKQTNTEKKASVVTLPVYLNFTRADLIF
TVDFEIATKEDPRSFYERGVAVLCTE

Sequence length

4646

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Phagosome	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Motor proteins	MHC class II antigen presentation
Vasopressin-regulated water reabsorption	Separation of Sister Chromatids
Salmonella infection	Resolution of Sister Chromatid Cohesion
	Regulation of PLK1 Activity at G2/M Transition
	HSP90 chaperone cycle for steroid hormone receptors (SHR)
	Loss of Nlp from mitotic centrosomes
	Recruitment of mitotic centrosome proteins and complexes
	Loss of proteins required for interphase microtubule organization from the centrosome
	Recruitment of NuMA to mitotic centrosomes
	Anchoring of the basal body to the plasma membrane
	RHO GTPases Activate Formins
	Neutrophil degranulation
	COPI-mediated anterograde transport
	COPI-independent Golgi-to-ER retrograde traffic
	Mitotic Prometaphase
	AURKA Activation by TPX2
	HCMV Early Events
	Aggrephagy
	EML4 and NUDC in mitotic spindle formation

107

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (28)
Abnormal cerebral morphology	Pathogenic	rs2152577516	RCV002275904	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of neuronal migration	Likely pathogenic	rs863223361	RCV000201421	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic	rs2152592115	RCV001814374	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Likely pathogenic	rs2503731165	RCV003127281	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures	Likely pathogenic; Pathogenic	rs2141274671, rs2152590132, rs587780564, rs2141274749, rs713993043, rs2141280750, rs2141280974, rs727505393, rs863223361, rs77216005, rs879254085, rs879253881, rs2503751017, rs1057518083, rs1057518287 View all (3 more)	RCV004554862 RCV001814714 RCV000144249 RCV002052120 RCV002249032 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs387906738	RCV000192255	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease axonal type 2O	Pathogenic; Likely pathogenic	rs1351401023, rs2141274671, rs2152592202, rs2152591288, rs879253979, rs2152590132, rs2141272574, rs2152594747, rs587780564, rs377013246, rs713993043, rs2503812014, rs2503715383, rs2503693934, rs797044901 View all (34 more)	RCV001361479 RCV001389363 RCV002032609 RCV001882790 RCV002540608 View all (44 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Delayed gross motor development	Likely pathogenic; Pathogenic	rs1057518961	RCV000414777	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed speech and language development	Likely pathogenic; Pathogenic	rs1057518961	RCV000414777	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DYNC1H1-related disorder	Pathogenic; Likely pathogenic	rs1370693832, rs377013246, rs757725348, rs2503726588, rs2503714640, rs2503750754, rs1064796765, rs1555411305, rs879254267, rs1555408829	RCV004728778 RCV003911154 RCV005868166 RCV004548509 RCV003404646 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYNC1H1-related neurodevelopmental disorders	Pathogenic	rs879253881	RCV001249748	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic	rs2152596521	RCV005931962	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs1057518776, rs1057518961	RCV000414994 RCV000414777	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary motor and sensory neuropathy	Likely pathogenic; Pathogenic	rs587780564	RCV000149555	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia	Likely pathogenic	rs1057518776	RCV000414994	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs797044901, rs397509412, rs1595629181, rs1595609005, rs2047950288, rs2047998539, rs1236304133	RCV001261370 RCV001255327 RCV001004059 RCV001004061 RCV001255359 RCV001260669 RCV001260667 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability, autosomal dominant 13	Likely pathogenic; Pathogenic	rs2048322542, rs2152590264, rs2141274671, rs2141276717, rs2152591288, rs2152596521, rs2152581547, rs2152590132, rs2152594747, rs587780564, rs2152589131, rs2152583773, rs2503757710, rs797044901, rs797044918 View all (29 more)	RCV001335828 RCV001376172 RCV004554862 RCV001650480 RCV001726716 View all (40 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lissencephaly	Likely pathogenic; Pathogenic	rs797045177, rs797045178, rs797045529, rs757725348, rs1064796765, rs397509412, rs1566996726, rs2047935205, rs2047938879, rs2048330550, rs2048519381, rs2048611744	RCV001291169 RCV001291061 RCV001291074 RCV001291072 RCV001291066 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lower limb muscle weakness	Likely pathogenic	rs1595605449	RCV001004063	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic; Pathogenic	rs1057518961	RCV000414777	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor delay	Likely pathogenic	rs1057518776	RCV000414994	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2152592151	RCV002274411	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, autosomal dominant	Pathogenic; Likely pathogenic	rs879254085, rs1595599240, rs1595600898, rs1555408333	RCV000789735 RCV000789733 RCV000789736 RCV000789737	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polymicrogyria	Likely pathogenic	rs1057518776	RCV000414994	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive muscle weakness	Likely pathogenic; Pathogenic	rs1327664377	RCV001004062	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs1057518961, rs2048519381	RCV000414777 RCV001849500	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal muscular atrophy	Pathogenic	rs713993043	RCV000149554	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal muscular atrophy with lower extremity predominance	Likely pathogenic; Pathogenic	rs757725348, rs1555408829, rs1595600898	RCV002051830 RCV001824815 RCV001578270	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (79)
Acute myeloid leukemia	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Asphyxiating thoracic dystrophy 3	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant cerebellar ataxia	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2O	—	Orphanet	20301462, 21820100	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	22368300, 22368300	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATROPHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 2	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 4	Likely benign	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Charcot-Marie-Tooth disease type 5	Conflicting classifications of pathogenicity; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, type I	Uncertain significance; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PES CAVUS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corpus callosum, agenesis of	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal lower limb amyotrophy	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal lower limb muscle weakness	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal myopathy	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal spinal muscular atrophy	Uncertain significance; Likely benign	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DYNC1H1-RELATED AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY	—	Orphanet	22459677	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYNC1H1-related neurological disorders	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYNC1H1-related neuronopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyneinopathy	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectopic tissue	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal akinesia deformation sequence 1	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal-onset seizure	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROSS MOTOR DEVELOPMENT DELAY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hammertoe	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 5	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE I	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY-NEUROPATHY TYPE II	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary motor neuron disease	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplasia of the corpus callosum	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infantile spasms	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability, Dominant	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrogyria	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MALFORMATIONS OF CORTICAL DEVELOPMENT	—	CTD	23603762	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP II	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle weakness	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Conflicting classifications of pathogenicity; Likely benign	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurodevelopmental abnormality	Uncertain significance; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR	—	Disgenet, ClinGen	21820100, 22459677, 22847149, 24307404, 25484024, 25512093, 25609763, 26846447, 28193117, 29306600, 30122514, 36218033, 36882741, ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PERONEAL MUSCULAR ATROPHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pes cavus	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyneuropathy	Likely benign	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rhizomelic chondrodysplasia punctata type 5	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ROUSSY-LEVY SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALDINO-NOONAN SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, FOCAL	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHIES OF CHILDHOOD	—	CTD, Disgenet CTD, Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT	—	HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER, PAPILLARY	—	CTD	28030816	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONIC-CLONIC EPILEPSY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (147)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16546759		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	16546759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	33221769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	8027338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	25609763, 27751653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	25609763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	GENOMICS_ENGLAND_DG	28554554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	34573389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	28325891, 34615535	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic Disorder	Autism	BEFREE	3864386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2O	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Body Weight	Body weight	Pubtator	34573389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	24307404, 28325891, 37903666, 40660528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33411682, 35601740	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	11960291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	12505252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	21820100, 22368300, 22459677, 23742762, 24307404, 25028179, 26100331, 29306600, 29379136		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG	21820100, 25025039		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O	Charcot-Marie-Tooth Disease	UNIPROT_DG	21820100, 24307404, 25512093		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O	Charcot-Marie-Tooth Disease	ORPHANET_DG	21820100		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	22459677, 26392352		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O	Charcot-Marie-Tooth Disease	CLINVAR_DG	25512093, 26392352, 26846447, 28554554		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O	Charcot-Marie-Tooth Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic granulomatous disease	Granulomatous Disease	BEFREE	28356734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25609763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28455235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35601740	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	28395088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	28554554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pes cavus	Congenital Pes Cavus	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortical Dysplasia	Cortical Dysplasia	CTD_human_DG	23603762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34272765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29631977, 32788638, 35099838, 37903666, 40660528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19175688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Spinal Muscular Atrophy	Distal Spinal Muscular Atrophy	BEFREE	24307404, 24755273, 28193117		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy	Spinal Muscular Atrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysgenesis of corpus callosum	Dysplastic corpus callosum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15826937, 16519653, 19074350, 21076407, 21820100, 22368300, 22459677, 22847149, 23603762, 24307404, 25609763, 26395554, 26795593, 28193117, 28263302, 28325891, 29243232, 9781046 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28325891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28325891, 35099838, 36175372, 37903666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	35099838, 40660528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Nonmedullary Thyroid Cancer	Thyroid cancer	CTD_human_DG	28030816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	24833881	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLOMUVENOUS MALFORMATIONS	Glomuvenous Malformation	BEFREE	17680968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	25512093		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hip Dislocation, Congenital	Congenital Hip dislocation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	23742762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	23742762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	32541515	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inherited Peripheral Neuropathy	Inherited Peripheral Neuropathy	BEFREE	25028179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21076407		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	BEFREE	22459677, 24755273, 25028179, 25484024, 26100331, 28325891, 28554554, 29306600		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	22459677, 24307404, 26100331, 28325891, 32788638, 35099838, 40660528	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile Spinal Muscular Atrophy	Spinal Muscular Atrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	31542790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	9674899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	25140959, 29671837, 37903666	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Liver carcinoma	Liver carcinoma	BEFREE	24847525, 31019054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	34272765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	8501979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	23603762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	CTD_human_DG	23603762		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Malformation of cortical development	BEFREE	24179174, 25028179, 28193117		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Cortical development malformation	Pubtator	24307404, 26100331, 32570172, 35099838, 36175372, 40660528	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Malformation of cortical development	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	24307404, 25484024, 25609763, 26100331	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	22368300, 25484024, 25609763, 29306600		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development, Group II	Malformation of cortical development	GENOMICS_ENGLAND_DG	28554554		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development, Group II	Malformation of cortical development	CLINVAR_DG	29706646		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28455235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24847525, 28455235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	7438112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21076407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	22459677, 25484024, 28554554, 29306600		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation Autosomal Dominant 1	Intellectual developmental disorder	Pubtator	25484024	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13	Mental retardation	UNIPROT_DG	21076407, 22368300, 23033978, 23603762, 28193117		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13	Mental retardation	GENOMICS_ENGLAND_DG	22459677, 23603762, 26392352		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13	Mental retardation	CLINVAR_DG	23603762, 25140959, 29706646		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	CTD_human_DG	23603762		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microlissencephaly	Microlissencephaly	CTD_human_DG	23603762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	16546759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	16546759, 25512093, 26662454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	24307404, 26100331	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease, Upper	Motor Neuron Disease	BEFREE	26100331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	22459677, 24307404, 25484024, 25497877, 25609763, 26100331, 32788638, 36332468, 37337091, 40660528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular atrophy, spinal, infantile chronic form	Spinal Muscular Atrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy, Spinal, Type II	Spinal Muscular Atrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32541515	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11960291, 15949565, 17656251, 6197160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	32788638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25028179, 26662454, 28455235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	32788638, 37903666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type V	Distal hereditary motor neuropathy	Pubtator	37704504	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	22368300, 22847149, 23742762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonmedullary Thyroid Carcinoma	Nonmedullary thyroid carcinoma	CTD_human_DG	28030816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	29463260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	BEFREE	25140959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	CTD_human_DG	28030816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	26100331	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	32788638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	3496149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	30042193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	33818783	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polymicrogyria	Polymicrogyria	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Profound Mental Retardation	Mental retardation	CTD_human_DG	21076407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	3864386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	35099838, 36175372, 37903666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	23603762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	22368300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	21902598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	36175372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	26100331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	26662454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	22459677, 25609763, 36882741, 37337091, 37395972	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophies of Childhood	Spinal Muscular Atrophy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	22459677, 22847149, 24307404, 25484024, 25512093, 25609763, 26100331, 28554554, 29306600, 30246859		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal Muscular Atrophy	Spinal Muscular Atrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant	Spinal Muscular Atrophy	UNIPROT_DG	22459677, 22847149, 25484024, 25512093, 26846447, 28193117		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant	Spinal Muscular Atrophy	GENOMICS_ENGLAND_DG	22459677, 26392352, 28554554		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant	Spinal Muscular Atrophy	ORPHANET_DG	22459677		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant	Spinal Muscular Atrophy	CLINVAR_DG	23603762		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant	Spinal Muscular Atrophy	BEFREE	28554554, 29306600		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	25484024	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	17656251		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	33221769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neurogenic	Neurogenic bladder	Pubtator	25609763, 36882741	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
DCTN1	6	["Motor neuron disease","Charcot-marie-tooth disease","Distal hereditary motor neuropathy","Distal spinal muscular atrophy","Hereditary motor and sensory neuropathies","Peripheral neuropathy"]	14	["Motor proteins","Vasopressin-regulated water reabsorption","Salmonella infection","COPI-mediated anterograde transport","MHC class II antigen presentation","Regulation of PLK1 Activity at G2\/M Transition","HSP90 chaperone cycle for steroid hormone receptors (SHR)","Loss of Nlp from mitotic centrosomes","Recruitment of mitotic centrosome proteins and complexes","Loss of proteins required for interphase microtubule organization from the centrosome","Recruitment of NuMA to mitotic centrosomes","Anchoring of the basal body to the plasma membrane"]	8	["Disgenet (Amyotrophic lateral sclerosis)","Disgenet (Charcot-marie-tooth disease)","ClinVar (Charcot-marie-tooth disease)","Disgenet (Distal hereditary motor neuropathy)","Disgenet (Distal spinal muscular atrophy)","Disgenet (Hereditary motor and sensory neuropathies)","Disgenet (Motor neuron disease)","Disgenet (Peripheral neuropathy)"]
GARS1	11	["Spinal muscular atrophy","Motor neuron disease","Charcot-marie-tooth disease","Distal hereditary motor neuropathy","Distal spinal muscular atrophy","Congenital pes cavus","Dejerine-sottas disease","Hereditary motor and sensory neuropathies","Hypertrophic neuropathy","Peroneal muscle atrophy","Roussy-levy syndrome"]	0	[]	16	["Disgenet (Charcot-marie-tooth disease)","Orphanet (Charcot-marie-tooth disease)","ClinVar (Charcot-marie-tooth disease)","Disgenet (Distal hereditary motor neuropathy)","CTD (Charcot-marie-tooth disease)","HPO (Charcot-marie-tooth disease)","Disgenet (Congenital pes cavus)","Disgenet (Dejerine-sottas disease)","Disgenet (Distal spinal muscular atrophy)","Disgenet (Hereditary motor and sensory neuropathies)","Disgenet (Motor neuron disease)","Disgenet (Hypertrophic neuropathy)"]
DYNC1I2	0	[]	23	["Phagosome","Motor proteins","Vasopressin-regulated water reabsorption","Salmonella infection","Aggrephagy","COPI-mediated anterograde transport","Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]	0	[]
NEFL	11	["Motor neuron disease","Charcot-marie-tooth disease","Distal hereditary motor neuropathy","Distal spinal muscular atrophy","Congenital pes cavus","Dejerine-sottas disease","Hereditary motor and sensory neuropathies","Hypertrophic neuropathy","Peripheral neuropathy","Peroneal muscle atrophy","Roussy-levy syndrome"]	0	[]	16	["Disgenet (Amyotrophic lateral sclerosis)","Disgenet (Charcot-marie-tooth disease)","Orphanet (Charcot-marie-tooth disease)","ClinVar (Charcot-marie-tooth disease)","Disgenet (Distal hereditary motor neuropathy)","CTD (Charcot-marie-tooth disease)","HPO (Charcot-marie-tooth disease)","Disgenet (Congenital pes cavus)","Disgenet (Dejerine-sottas disease)","Disgenet (Distal spinal muscular atrophy)","Disgenet (Hereditary motor and sensory neuropathies)","Disgenet (Motor neuron disease)"]
PLEKHG5	11	["Spinal muscular atrophy","Motor neuron disease","Charcot-marie-tooth disease","Distal hereditary motor neuropathy","Distal spinal muscular atrophy","Dejerine-sottas disease","Hereditary motor and sensory neuropathies","Hypertrophic neuropathy","Peripheral neuropathy","Peroneal muscle atrophy","Roussy-levy syndrome"]	0	[]	17	["CTD (Spinal muscular atrophy)","Disgenet (Amyotrophic lateral sclerosis)","Disgenet (Charcot-marie-tooth disease)","Orphanet (Charcot-marie-tooth disease)","ClinVar (Charcot-marie-tooth disease)","Disgenet (Distal hereditary motor neuropathy)","CTD (Charcot-marie-tooth disease)","HPO (Charcot-marie-tooth disease)","Disgenet (Dejerine-sottas disease)","Disgenet (Distal spinal muscular atrophy)","Disgenet (Hereditary motor and sensory neuropathies)","Disgenet (Motor neuron disease)"]

DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)

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