DCTN1 (dynactin subunit 1)

Gene

• Entrez ID: 1639
• Gene name: Dynactin subunit 1
• Gene symbol: DCTN1
• Synonyms (NCBI Gene): DAP-150, DP-150, HMND14, P135
• Chromosome: 2
• Chromosome location: 2p13.1
• Summary: This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs55862001	T>C	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs67586389	C>G,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs72466485	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs72466486	T>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs72466487	T>C,G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs72466489	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs72466494	C>T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs72466496	G>A	Benign, risk-factor, likely-benign, benign-likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs72659383	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs121909342	C>G,T	Uncertain-significance, pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121909343	A>G	Risk-factor	Non coding transcript variant, coding sequence variant, missense variant
rs121909344	G>A,C	Uncertain-significance, risk-factor	Non coding transcript variant, coding sequence variant, missense variant
rs121909345	C>T	Risk-factor	Non coding transcript variant, coding sequence variant, missense variant
rs150204862	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs200834352	C>T	Likely-pathogenic, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs377519506	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs566433112	T>C	Pathogenic, uncertain-significance	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs886039227	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs886039228	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs886039229	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1393363759	C>A,G,T	Uncertain-significance, likely-pathogenic	Splice donor variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050276	hsa-miR-25-3p	CLASH	23622248
MIRT048854	hsa-miR-93-5p	CLASH	23622248
MIRT044073	hsa-miR-361-5p	CLASH	23622248
MIRT036100	hsa-miR-1296-5p	CLASH	23622248
MIRT927127	hsa-miR-3064-5p	CLIP-seq
MIRT927128	hsa-miR-3179	CLIP-seq
MIRT927129	hsa-miR-4446-3p	CLIP-seq
MIRT927130	hsa-miR-4656	CLIP-seq
MIRT927131	hsa-miR-4687-3p	CLIP-seq
MIRT927132	hsa-miR-4721	CLIP-seq
MIRT927133	hsa-miR-125a-5p	CLIP-seq
MIRT927134	hsa-miR-125b	CLIP-seq
MIRT927135	hsa-miR-127-5p	CLIP-seq
MIRT927136	hsa-miR-1909	CLIP-seq
MIRT927137	hsa-miR-214	CLIP-seq
MIRT927127	hsa-miR-3064-5p	CLIP-seq
MIRT927138	hsa-miR-3173-3p	CLIP-seq
MIRT927128	hsa-miR-3179	CLIP-seq
MIRT927139	hsa-miR-3619-5p	CLIP-seq
MIRT927140	hsa-miR-3664-3p	CLIP-seq
MIRT927141	hsa-miR-4319	CLIP-seq
MIRT927142	hsa-miR-4419a	CLIP-seq
MIRT927129	hsa-miR-4446-3p	CLIP-seq
MIRT927143	hsa-miR-4476	CLIP-seq
MIRT927144	hsa-miR-4492	CLIP-seq
MIRT927145	hsa-miR-4498	CLIP-seq
MIRT927146	hsa-miR-4510	CLIP-seq
MIRT927147	hsa-miR-4533	CLIP-seq
MIRT927148	hsa-miR-4640-3p	CLIP-seq
MIRT927149	hsa-miR-4649-3p	CLIP-seq
MIRT927130	hsa-miR-4656	CLIP-seq
MIRT927131	hsa-miR-4687-3p	CLIP-seq
MIRT927132	hsa-miR-4721	CLIP-seq
MIRT927150	hsa-miR-4749-3p	CLIP-seq
MIRT927151	hsa-miR-4779	CLIP-seq
MIRT927152	hsa-miR-486-3p	CLIP-seq
MIRT927153	hsa-miR-544b	CLIP-seq
MIRT927154	hsa-miR-615-5p	CLIP-seq
MIRT927155	hsa-miR-761	CLIP-seq
MIRT927156	hsa-miR-762	CLIP-seq
MIRT927157	hsa-miR-873	CLIP-seq
MIRT927158	hsa-miR-887	CLIP-seq
MIRT1974580	hsa-miR-1286	CLIP-seq
MIRT927128	hsa-miR-3179	CLIP-seq
MIRT1974581	hsa-miR-4688	CLIP-seq
MIRT1974582	hsa-miR-4766-5p	CLIP-seq
MIRT927152	hsa-miR-486-3p	CLIP-seq
MIRT1974583	hsa-miR-488	CLIP-seq
MIRT1974584	hsa-miR-662	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	IBA
GO:0000132	Process	Establishment of mitotic spindle orientation	IMP	22327364
GO:0000278	Process	Mitotic cell cycle	NAS	1828535
GO:0000776	Component	Kinetochore	IBA
GO:0000776	Component	Kinetochore	IDA	19468067, 23027904
GO:0000922	Component	Spindle pole	IBA
GO:0000922	Component	Spindle pole	IDA	14718566
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	9361024, 9722614, 12857853, 15107855, 17139249, 17532294, 17828275, 17828277, 17932487, 18000879, 18615096, 18922795, 19619496, 19935774, 20133940, 20679239, 20719959, 20978158, 22159412, 22261744, 22777741, 22797915, 23414759, 23524952, 23574715, 23874158, 24867236, 24997520, 25189
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	20679239
GO:0005635	Component	Nuclear envelope	IEA
GO:0005737	Component	Cytoplasm	IDA	18305234
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	1828535
GO:0005813	Component	Centrosome	IDA	20719959, 21399614, 23985322, 25774020
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	23213374, 23386061, 25774020
GO:0005814	Component	Centriole	IEA
GO:0005819	Component	Spindle	IDA	25774020
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	21525035, 22777741, 25774020
GO:0005874	Component	Microtubule	IEA
GO:0005875	Component	Microtubule associated complex	IBA
GO:0005875	Component	Microtubule associated complex	IMP	16505168
GO:0005929	Component	Cilium	IDA
GO:0005938	Component	Cell cortex	IDA	23509069
GO:0005938	Component	Cell cortex	IDA	23027904
GO:0005938	Component	Cell cortex	IEA
GO:0007097	Process	Nuclear migration	IBA
GO:0007399	Process	Nervous system development	NAS	17360970
GO:0007528	Process	Neuromuscular junction development	IMP	18305234
GO:0008017	Function	Microtubule binding	IDA	23874158, 26972003
GO:0008017	Function	Microtubule binding	IEA
GO:0008017	Function	Microtubule binding	IMP	16505168
GO:0010457	Process	Centriole-centriole cohesion	IMP	23386061
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0015631	Function	Tubulin binding	IDA	23874158
GO:0016020	Component	Membrane	HDA	19946888
GO:0019901	Function	Protein kinase binding	IPI	17139249
GO:0021517	Process	Ventral spinal cord development	IMP	18305234
GO:0030286	Component	Dynein complex	IEA
GO:0030424	Component	Axon	IBA
GO:0030904	Component	Retromer complex	IDA	19619496
GO:0031116	Process	Positive regulation of microtubule polymerization	IDA	23874158
GO:0031116	Process	Positive regulation of microtubule polymerization	IMP	16505168
GO:0031252	Component	Cell leading edge	IEA
GO:0032402	Process	Melanosome transport	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034454	Process	Microtubule anchoring at centrosome	IMP	23386061
GO:0035371	Component	Microtubule plus-end	IDA	26972003
GO:0035371	Component	Microtubule plus-end	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0036064	Component	Ciliary basal body	IEA
GO:0042147	Process	Retrograde transport, endosome to Golgi	IMP	19619496
GO:0043005	Component	Neuron projection	IDA	18364389
GO:0043025	Component	Neuronal cell body	IDA	18364389
GO:0045171	Component	Intercellular bridge	IDA
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0050905	Process	Neuromuscular process	IMP	18305234
GO:0051081	Process	Nuclear membrane disassembly	IMP	20679239
GO:0051301	Process	Cell division	IEA
GO:0060236	Process	Regulation of mitotic spindle organization	IMP	23027904
GO:0061744	Process	Motor behavior	IMP	18305234, 18364389
GO:0070050	Process	Neuron cellular homeostasis	IMP	18305234
GO:0072686	Component	Mitotic spindle	IDA
GO:0090063	Process	Positive regulation of microtubule nucleation	IDA	23874158
GO:0098930	Process	Axonal transport	IMP	18364389
GO:0099558	Process	Maintenance of synapse structure	TAS	18305234
GO:0099738	Component	Cell cortex region	IDA	22327364
GO:0120103	Component	Centriolar subdistal appendage	IDA	23213374
GO:1904398	Process	Positive regulation of neuromuscular junction development	IMP	18364389
GO:1905515	Process	Non-motile cilium assembly	IMP	25774020
GO:1990535	Process	Neuron projection maintenance	IMP	18305234, 18364389

Other IDs

• MIM: 601143
• HGNC: 2711
• e!Ensembl: ENSG00000204843

Protein

• UniProt ID: Q14203
• Protein name: Dynactin subunit 1 (150 kDa dynein-associated polypeptide) (DAP-150) (DP-150) (p135) (p150-glued)
• Protein function: Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules (By similarity). Plays a key role in dynein-mediated retrograde transport of vesicles and organelles along microtubules by r
• PDB: 1TXQ, 2COY, 2HKN, 2HKQ, 2HL3, 2HL5, 2HQH, 3E2U, 3TQ7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01302	CAP_GLY	29 → 94	CAP-Gly domain	Domain
  PF12455	Dynactin	523 → 805	Dynein associated protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Brain.
• Sequence:

  MAQSKRHVYSRTPSGSRMSAEASARPLRVGSRVEVIGKGHRGTVAYVGATLFATGKWVGV
  ILDEAKGKNDGTVQGRKYFTCDEGHGIFVRQSQIQVFEDGADTTSPETPDSSASKVLKRE
  GTDTTAKTSKLRGLKPKKAPTARKTTTRRPKPTRPASTGVAGASSSLGPSGSASAGELSS
  SEPSTPAQTPLAAPIIPTPVLTSPGAVPPLPSPSKEEEGLRAQVRDLEEKLETLRLKRAE
  DKAKLKELEKHKIQLEQVQEWKSKMQEQQADLQRRLKEARKEAKEALEAKERYMEEMADT
  ADAIEMATLDKEMAEERAESLQQEVEALKERVDELTTDLEILKAEIEEKGSDGAASSYQL
  KQLEEQNARLKDALVRMRDLSSSEKQEHVKLQKLMEKKNQELEVVRQQRERLQEELSQAE
  STIDELKEQVDAALGAEEMVEMLTDRNLNLEEKVRELRETVGDLEAMNEMNDELQENARE
  TELELREQLDMAGARVREAQKRVEAAQETVADYQQTIKKYRQLTAHLQDVNRELTNQQEA
  SVERQQQPPPETFDFKIKFAETKAHAKAIEMELRQMEVAQANRHMSLLTAFMPDSFLRPG
  GDHDCVLVLLLMPRLICKAELIRKQAQEKFELSENCSERPGLRGAAGEQLSFAAGLVYSL
  SLLQATLHRYEHALSQCSVDVYKKVGSLYPEMSAHERSLDFLIELLHKDQLDETVNVEPL
  TKAIKYYQHLYSIHLAEQPEDCTMQLADHIKFTQSALDCMSVEVGRLRAFLQGGQEATDI
  ALLLRDLETSCSDIRQFCKKIRRRMPGTDAPGIPAALAFGPQVSDTLLDCRKHLTWVVAV
  LQEVAAAAAQLIAPLAENEGLLVAALEELAFKASEQIYGTPSSSPYECLRQSCNILISTM
  NKLATAMQEGEYDAERPPSKPPPVELRAAALRAEITDAEGLGLKLEDRETVIKELKKSLK
  IKGEELSEANVRLSLLEKKLDSAAKDADERIEKVQTRLEETQALLRKKEKEFEETMDALQ
  ADIDQLEAEKAELKQRLNSQSKRTIEGLRGPPPSGIATLVSGIAGEEQQRGAIPGQAPGS
  VPGPGLVKDSPLLLQQISAMRLHISQLQHENSILKGAQMKASLASLPPLHVAKLSHEGPG
  SELPAGALYRKTSQLLETLNQLSTHTHVVDITRTSPAAKSPSAQLMEQVAQLKSLSDTVE
  KLKDEVLKETVSQRPGATVPTDFATFPSSAFLRAKEEQQDDTVYMGKVTFSCAAGFGQRH
  RLVLTQEQLHQLHSRLIS

• Sequence length: 1278

Pathways

KEGG:

Motor proteins
Vasopressin-regulated water reabsorption
Amyotrophic lateral sclerosis
Huntington disease
Pathways of neurodegeneration - multiple diseases
Salmonella infection

Reactome:

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
XBP1(S) activates chaperone genes
Anchoring of the basal body to the plasma membrane
COPI-mediated anterograde transport
COPI-independent Golgi-to-ER retrograde traffic
AURKA Activation by TPX2

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
Amyotrophic lateral sclerosis	Likely pathogenic; Pathogenic	rs1393363759, rs1328116832	RCV003993994 RCV001260558	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis type 1	Likely pathogenic; Pathogenic	rs766653950, rs121909342, rs2529170080, rs1675325580, rs67586389, rs1393363759	RCV001973433 RCV001972819 RCV002635269 RCV000644484 RCV003777323 RCV003764613 RCV001232579 RCV000685402	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DCTN1-related disorder	Likely pathogenic; Pathogenic	rs1393363759	RCV005870794	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary motor neuron disease	Pathogenic; Likely pathogenic	rs121909342, rs1393363759	RCV000789086 RCV001027493	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, type 7B	Likely pathogenic; Pathogenic	rs766653950, rs121909342, rs2529170080, rs1553466434, rs1675325580, rs67586389, rs1393363759	RCV001973433 RCV001972819 RCV002635269 RCV000008909 RCV003223522 RCV003777323 RCV003764613 RCV001232579 RCV000685402	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Perry syndrome	Likely pathogenic; Pathogenic	rs766653950, rs121909342, rs2529170080, rs72466487, rs1553466434, rs886039227, rs1675325580, rs67586389, rs1393363759	RCV001973433 RCV001972819 RCV002635269 RCV000644484 RCV000008915 RCV003447338 RCV003447330 RCV003777323 RCV000020576 RCV001232579 RCV000685402	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis, susceptibility to	Benign; Likely benign; risk factor; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinVar, Disgenet ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Charcot-Marie-Tooth disease type 2	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 7	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal spinal muscular atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dystonic disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized dystonia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY-NEUROPATHY TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 14	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alstrom Syndrome	Alstrom Syndrome	BEFREE	9799602		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16240349, 17824900, 18305234, 18759352, 19506225, 24343258, 25957632, 27573046, 28792508, 31291987		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	23755159, 24343258, 25957632, 28792508, 32023010, 37208601	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	23941283		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CLINVAR_DG	12627231, 16505168, 18094236, 18364389, 19279216, 23143281, 27573046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	UNIPROT_DG	15326253, 16240349		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	GENOMICS_ENGLAND_DG	19136952, 26954557, 27025386, 28251916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	28792508	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	28792508		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	32023010	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Juvenile Parkinson Disease	Parkinson Disease	CTD_human_DG	19136952		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	CTD_human_DG	19136952		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	BEFREE	20437543, 24484619		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	CTD_human_DG	19136952		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	25957632	Associate	★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	BEFREE	24343258		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	32325768	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	31038188	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	28167572	Associate	★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation syndrome	Congenital central hypoventilation syndrome	Pubtator	24343258	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	24343258		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	24343258, 37330543	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27132499		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	29089398	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36837510	Associate	★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal hereditary motor neuropathy type 7	Distal Hereditary Motor Neuronopathy	ORPHANET_DG	12627231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal hereditary motor neuropathy type 7	Distal Hereditary Motor Neuronopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Hereditary Motor Neuropathy Type II	Distal hereditary motor neuropathy	Pubtator	32023010	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Juvenile Parkinsonism	Parkinsonian disease	CTD_human_DG	19136952		★☆☆☆☆ Found in Text Mining only
Familial Motor Neuron Disease	Motor Neuron Disease	BEFREE	24676999, 27132499		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	16240349, 17824900, 27573046		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	19506225, 24343258, 35964197	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal dementia	Frontotemporal dementia	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	19506225		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24797316	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	26062823		★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	31996268	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	29864111	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27132499		★☆☆☆☆ Found in Text Mining only
Miyoshi Muscular Dystrophy 1	Miyoshi Muscular Dystrophy	BEFREE	9799602		★☆☆☆☆ Found in Text Mining only
Miyoshi myopathy	Miyoshi Myopathy	BEFREE	9799602		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	CTD_human_DG	19136952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	19279216		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	LHGDN	12627231, 18305234, 19136952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Neuron Disease	Motor Neuron Disease	BEFREE	18305234, 19136952, 26662454, 28625595, 31654383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Neuron Disease	Motor neuron disease	Pubtator	19136952, 19506225, 40424855	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Neuron Disease, Lower	Motor Neuron Disease	BEFREE	19506225		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17824900		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	9805007		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	Limb-Girdle Muscular Dystrophy	BEFREE	9805007		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26062823		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	24797316	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	24256262		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	19136952, 19506225, 37330543	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	18364389, 19136952, 26662454, 27573046, 31654383		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	19136952		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	9070275		★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type V	Distal hereditary motor neuropathy	Pubtator	32023010	Associate	★☆☆☆☆ Found in Text Mining only
Neuronopathy, Distal Hereditary Motor, Type Viib	Neuronopathy	CLINVAR_DG	12627231, 16505168, 18094236, 18364389, 19279216, 23143281, 27573046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronopathy, Distal Hereditary Motor, Type Viib	Neuronopathy	UNIPROT_DG	12627231, 16505168, 19136952, 19279216, 22777741		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronopathy, Distal Hereditary Motor, Type Viib	Neuronopathy	GENOMICS_ENGLAND_DG	19136952, 26954557, 27025386, 28251916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronopathy, Distal Hereditary Motor, Type Viib	Neuronopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	36837510	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	19506225, 27132499, 30120951		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	CTD_human_DG	19136952		★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	24343258, 25957632, 29089398	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	CTD_human_DG	19136952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	BEFREE	24676999, 27132499, 28625595, 29499916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonism, Juvenile	Parkinsonian disease	CTD_human_DG	19136952		★☆☆☆☆ Found in Text Mining only
Perry Syndrome	Perry Syndrome	CLINVAR_DG	12627231, 16505168, 18094236, 18364389, 19279216, 23143281, 27573046		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Perry Syndrome	Perry Syndrome	BEFREE	19136952, 19506225, 19732908, 20437543, 20518521, 20702129, 24343258, 24484619, 24676999, 27132499, 27346608, 27573046, 28625595, 29273399, 29499916, 30215870		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Perry Syndrome	Perry Syndrome	UNIPROT_DG	19136952, 23874158, 24676999, 24881494, 25185702, 26972003		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Perry Syndrome	Perry Syndrome	GENOMICS_ENGLAND_DG	19136952, 26954557, 27025386, 27132499, 27346608, 28251916		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Perry Syndrome	Perry Syndrome	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Perry Syndrome	Perry Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Perry syndrome	Perry Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pick Disease of the Brain	Pica	BEFREE	27573046		★☆☆☆☆ Found in Text Mining only
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	BEFREE	28568506		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	24343258		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	24343258, 27132499, 28568506, 29499916		★☆☆☆☆ Found in Text Mining only
Pseudobulbar Palsy	Pseudobulbar Palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ramsay Hunt Paralysis Syndrome	Ramsay Hunt Paralysis Syndrome	CTD_human_DG	19136952		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	20437543		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	27874193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	25957632	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	26662454		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26330360	Associate	★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	24343258, 35842134	Associate	★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	29499916		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36686473	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	36686473	Associate	★☆☆☆☆ Found in Text Mining only
Vertical supranuclear gaze palsy	Supranuclear gaze palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	32756109	Associate	★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only