Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3798
Gene name	Kinesin family member 5A
Gene symbol	KIF5A
Synonyms (NCBI Gene)	ALS25D12S1889MY050NEIMYNKHCSPG10
Chromosome	12
Chromosome location	12q13.3
Summary	This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic par

Show/Hide all (27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434441	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121434442	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121434443	A>G	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121434444	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs139091551	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs140281678	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs143326964	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs375693647	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs387907285	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs387907286	G>A	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs387907287	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs387907288	G>A	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs387907289	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs690016545	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057517673	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519078	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057523746	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057524193	A>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1131692233	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1218712729	T>A	Risk-factor	Non coding transcript variant, splice donor variant
rs1402429085	C>T	Risk-factor	Intron variant
rs1555177629	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555177824	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555177831	G>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555178616	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555179087	A>G	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs1555179091	G>A	Risk-factor	Non coding transcript variant, splice donor variant

Show/Hide all (91)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027231	hsa-miR-103a-3p	Sequencing	20371350
MIRT032072	hsa-miR-16-5p	Sequencing	20371350
MIRT656870	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT656869	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT656868	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT656867	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT656866	hsa-miR-7977	HITS-CLIP	23824327
MIRT656870	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT656869	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT656868	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT656867	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT656866	hsa-miR-7977	HITS-CLIP	23824327
MIRT474700	hsa-miR-6165	PAR-CLIP	23592263
MIRT474701	hsa-miR-1265	PAR-CLIP	23592263
MIRT474699	hsa-miR-7852-3p	PAR-CLIP	23592263
MIRT474698	hsa-miR-4459	PAR-CLIP	23592263
MIRT474697	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT474696	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT474695	hsa-miR-6081	PAR-CLIP	23592263
MIRT474694	hsa-miR-765	PAR-CLIP	23592263
MIRT474693	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT474692	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT474691	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT474690	hsa-miR-6073	PAR-CLIP	23592263
MIRT474689	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT656870	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT656869	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT656868	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT656867	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT656866	hsa-miR-7977	HITS-CLIP	23824327
MIRT656870	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT656869	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT656868	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT656867	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT656866	hsa-miR-7977	HITS-CLIP	23824327
MIRT474700	hsa-miR-6165	PAR-CLIP	23592263
MIRT474701	hsa-miR-1265	PAR-CLIP	23592263
MIRT474699	hsa-miR-7852-3p	PAR-CLIP	23592263
MIRT474698	hsa-miR-4459	PAR-CLIP	23592263
MIRT474697	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT474696	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT474695	hsa-miR-6081	PAR-CLIP	23592263
MIRT474694	hsa-miR-765	PAR-CLIP	23592263
MIRT474693	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT474692	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT474691	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT474690	hsa-miR-6073	PAR-CLIP	23592263
MIRT474689	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT2256715	hsa-miR-15a	CLIP-seq
MIRT2256716	hsa-miR-15b	CLIP-seq
MIRT2256717	hsa-miR-16	CLIP-seq
MIRT2256718	hsa-miR-195	CLIP-seq
MIRT2256719	hsa-miR-3617	CLIP-seq
MIRT2256720	hsa-miR-424	CLIP-seq
MIRT2256721	hsa-miR-497	CLIP-seq
MIRT2256722	hsa-miR-503	CLIP-seq
MIRT2256723	hsa-miR-641	CLIP-seq
MIRT2256724	hsa-miR-646	CLIP-seq
MIRT2558080	hsa-miR-139-3p	CLIP-seq
MIRT2558081	hsa-miR-181a	CLIP-seq
MIRT2558082	hsa-miR-181b	CLIP-seq
MIRT2558083	hsa-miR-181c	CLIP-seq
MIRT2558084	hsa-miR-181d	CLIP-seq
MIRT2558085	hsa-miR-203	CLIP-seq
MIRT2558086	hsa-miR-3189-5p	CLIP-seq
MIRT2558087	hsa-miR-3529	CLIP-seq
MIRT2558088	hsa-miR-3591-3p	CLIP-seq
MIRT2558089	hsa-miR-3620	CLIP-seq
MIRT2558090	hsa-miR-379	CLIP-seq
MIRT2558091	hsa-miR-3927	CLIP-seq
MIRT2558092	hsa-miR-4262	CLIP-seq
MIRT2558093	hsa-miR-4302	CLIP-seq
MIRT2558094	hsa-miR-4476	CLIP-seq
MIRT2558095	hsa-miR-4667-3p	CLIP-seq
MIRT2558096	hsa-miR-4758-3p	CLIP-seq
MIRT2558097	hsa-miR-494	CLIP-seq
MIRT2558098	hsa-miR-539	CLIP-seq
MIRT2558099	hsa-miR-543	CLIP-seq
MIRT2558080	hsa-miR-139-3p	CLIP-seq
MIRT2558081	hsa-miR-181a	CLIP-seq
MIRT2558082	hsa-miR-181b	CLIP-seq
MIRT2558083	hsa-miR-181c	CLIP-seq
MIRT2558084	hsa-miR-181d	CLIP-seq
MIRT2558088	hsa-miR-3591-3p	CLIP-seq
MIRT2558089	hsa-miR-3620	CLIP-seq
MIRT2558092	hsa-miR-4262	CLIP-seq
MIRT2558093	hsa-miR-4302	CLIP-seq
MIRT2558095	hsa-miR-4667-3p	CLIP-seq
MIRT2558097	hsa-miR-494	CLIP-seq
MIRT2558098	hsa-miR-539	CLIP-seq
MIRT2558099	hsa-miR-543	CLIP-seq

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003774	Function	Cytoskeletal motor activity	TAS	7514426
GO:0003777	Function	Microtubule motor activity	IDA	18203753
GO:0003777	Function	Microtubule motor activity	IEA
GO:0005515	Function	Protein binding	IPI	20386726, 22705394, 24161670, 25898167, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005871	Component	Kinesin complex	IBA
GO:0005871	Component	Kinesin complex	TAS	7514426
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IEA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007018	Process	Microtubule-based movement	TAS	7514426
GO:0007268	Process	Chemical synaptic transmission	TAS	7514426
GO:0007411	Process	Axon guidance	IBA
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0008574	Function	Plus-end-directed microtubule motor activity	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	TAS	7514426
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0019894	Function	Kinesin binding	IEA
GO:0032839	Component	Dendrite cytoplasm	IEA
GO:0035253	Component	Ciliary rootlet	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048489	Process	Synaptic vesicle transport	IBA
GO:0098971	Process	Anterograde dendritic transport of neurotransmitter receptor complex	IBA
GO:0098971	Process	Anterograde dendritic transport of neurotransmitter receptor complex	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:0099641	Process	Anterograde axonal protein transport	ISS
GO:1904115	Component	Axon cytoplasm	IEA
GO:1990049	Process	Retrograde neuronal dense core vesicle transport	ISS

MIM	HGNC	e!Ensembl
602821	6323	ENSG00000155980

Q12840

Protein name

Kinesin heavy chain isoform 5A (EC 5.6.1.3) (Kinesin heavy chain neuron-specific 1) (Neuronal kinesin heavy chain) (NKHC)

Protein function

Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex

PDB

4UXT , 4UXY , 4UY0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00225	Kinesin	25 → 327	Kinesin motor domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Distributed throughout the CNS but is highly enriched in subsets of neurons. {ECO:0000269|PubMed:7514426}.

Sequence

MAETNNECSIKVLCRFRPLNQAEILRGDKFIPIFQGDDSVVIGGKPYVFDRVFPPNTTQE
QVYHACAMQIVKDVLAGYNGTIFAYGQTSSGKTHTMEGKLHDPQLMGIIPRIARDIFNHI
YSMDENLEFHIKVSYFEIYLDKIRDLLDVTKTNLSVHEDKNRVPFVKGCTERFVSSPEEI
LDVIDEGKSNRHVAVTNMNEHSSRSHSIFLINIKQENMETEQKLSGKLYLVDLAGSEKVS
KTGAEGAVLDEAKNINKSLSALGNVISALAEGTKSYVPYRDSKMTRILQDSLGGNCRTTM
FICCSPSSYNDAETKSTLMFGQRAKTIKNTASVNLELTAEQWKKKYEKEKEKTKAQKETI
AKLEAELSRWRNGENVPETERLAGEEAALGAELCEETPVNDNSSIVVRIAPEERQKYEEE
IRRLYKQLDDKDDEINQQSQLIEKLKQQMLDQEELLVSTRGDNEKVQRELSHLQSENDAA
KDEVKEVLQALEELAVNYDQKSQEVEEKSQQNQLLVDELSQKVATMLSLESELQRLQEVS
GHQRKRIAEVLNGLMKDLSEFSVIVGNGEIKLPVEISGAIEEEFTVARLYISKIKSEVKS
VVKRCRQLENLQVECHRKMEVTGRELSSCQLLISQHEAKIRSLTEYMQSVELKKRHLEES
YDSLSDELAKLQAQETVHEVALKDKEPDTQDADEVKKALELQMESHREAHHRQLARLRDE
INEKQKTIDELKDLNQKLQLELEKLQADYEKLKSEEHEKSTKLQELTFLYERHEQSKQDL
KGLEETVARELQTLHNLRKLFVQDVTTRVKKSAEMEPEDSGGIHSQKQKISFLENNLEQL
TKVHKQLVRDNADLRCELPKLEKRLRATAERVKALEGALKEAKEGAMKDKRRYQQEVDRI
KEAVRYKSSGKRGHSAQIAKPVRPGHYPASSPTNPYGTRSPECISYTNSLFQNYQNLYLQ
ATPSSTSDMYFANSCTSSGATSSGGPLASYQKANMDNGNATDINDNRSDLPCGYEAEDQA
KLFPLHQETAAS

Sequence length

1032

Interactions

View interactions

	KEGG		Reactome
	Endocytosis Dopaminergic synapse Motor proteins Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Salmonella infection Non-small cell lung cancer		MHC class II antigen presentation RHO GTPases activate KTN1 COPI-dependent Golgi-to-ER retrograde traffic Kinesins

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)

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amyotrophic lateral sclerosis, susceptibility to, 25	Pathogenic; Likely pathogenic	rs1555179091, rs1402429085, rs1555179087	RCV003334403 RCV000598707 RCV000599583 RCV000598752	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auditory neuropathy	Likely pathogenic	rs2540511791	RCV003484492	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 2	Likely pathogenic	rs2140172189	RCV002221181	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Demyelinating peripheral neuropathy	Likely pathogenic; Pathogenic	rs387907288	RCV002051649	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs121434442, rs1012819766, rs1555177629, rs1555177824, rs1555177831, rs387907288	RCV001847593 RCV001848809 RCV000516107 RCV000516067 RCV000515861 RCV000515919 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary spastic paraplegia 10	Likely pathogenic; Pathogenic	rs2140161617, rs2540492992, rs2540494895, rs2540481495, rs690016545, rs121434441, rs121434442, rs121434443, rs2540499310, rs140144799, rs2540499468, rs1012819766, rs1555177629, rs1555177824, rs1131692233 View all (13 more)	RCV001542684 RCV002289201 RCV002290043 RCV002292695 RCV000149510 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KIF5A-related disorder	Likely pathogenic; Pathogenic	rs121434443, rs2540516288, rs387907287, rs748551786	RCV004766984 RCV003335893 RCV002468980 RCV004548072	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myoclonus, intractable, neonatal	Likely pathogenic; Pathogenic	rs2540515721, rs1057519078, rs1057517673, rs387907285, rs387907287, rs1882585452, rs1057524193	RCV003444393 RCV000412536 RCV000412656 RCV004767023 RCV001196631 RCV004769986 RCV004769988 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peripheral neuropathy	Likely pathogenic	rs2540493207	RCV002286509	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Pathogenic; Likely pathogenic	rs2140150119, rs1555179091, rs2540501760, rs1235560158, rs2540503039, rs2540515401, rs121434442, rs121434443, rs2540508034, rs2540508044, rs387907287, rs539166420, rs2540496937, rs2540494891, rs387907288 View all (13 more)	RCV002040379 RCV001956486 RCV002647148 RCV002889445 RCV002876212 View all (27 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	Source	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.
Amyotrophic lateral sclerosis	Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ARTHRITIS, RHEUMATOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	Likely benign	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 10	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal myopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIAS, PAROXYSMAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GENETIC NEURODEGENERATIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY-NEUROPATHY TYPE II	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited neurodegenerative disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIF5A-related amyotrophic lateral sclerosis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIF5A-related intractable neonatal myoclonus	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal dyskinesia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia, autosomal dominant	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (109)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	36544231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	25957632, 29342275, 30778698, 33709219, 33829936, 36055117, 36565680, 37386082	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27084214, 29342275, 30301576, 31335339		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASCAT_DG	29566793		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	23006449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	29342275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Apnea	Apnea	Pubtator	27463701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	19674979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18794857, 19956108, 23242182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	22328738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20508602, 23300462, 26092158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASDB_DG	21383967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	Charcot-Marie-Tooth Disease	ORPHANET_DG	21623771		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autosomal dominant spastic paraplegia type 10	Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	25957632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31354888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19789344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31354888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	21623771, 30583522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Classical Lissencephaly	Lissencephaly	BEFREE	18658164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	27463701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	27463701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33681666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19956108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	19110536, 19956108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren Contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	22788249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23217743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33681666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	31404076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	30301576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	15452312, 16682546, 18203753, 18245137, 18853458, 21623771, 22714410, 22788249, 23209432, 24939576, 25008398, 26374131, 26403765, 28382308, 28678816, 30366951, 30583522 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	BEFREE	11839840, 16489470, 18853458, 26403765, 27084214, 30583522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	25008398, 29342275		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	25008398, 29342275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27414745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	29342275	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile arthritis	Arthritis	BEFREE	19674979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	29908077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	27414745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	29342275, 29566793, 35385738, 36223668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	26092158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	26092158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26092158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	26092158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19789344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31354888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27463701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20508602, 24144874, 26785938, 29908077		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	23160276, 29908077	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	33484325	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	29908077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	27414745		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOCLONUS, INTRACTABLE, NEONATAL	Myoclonus	GENOMICS_ENGLAND_DG	27414745, 29903433		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOCLONUS, INTRACTABLE, NEONATAL	Myoclonus	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOCLONUS, INTRACTABLE, NEONATAL	Myoclonus	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
nervous system disorder	Nervous System Disorder	BEFREE	29908077, 30411208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29566793, 36565680, 36574689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	22714410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	18245137, 25008398, 29342275, 36055117, 36565680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	25957632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	21107874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	18245137, 26403765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	18245137, 25008398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	18245137, 26403765		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pick Disease of the Brain	Pica	BEFREE	30301576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	18794853, 24449572		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	18794853, 24449572		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20498205		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	23143596		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18658164		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	33681666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	11354831, 18203753, 18245137, 23209432, 25008398, 27414745, 27463701, 29342275, 29908077		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG	18853458, 21623771, 25008398, 26543653		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic paraplegia 10 autosomal dominant	Spastic paraplegia	Pubtator	27463701, 29566793, 29908077, 36565680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 10, autosomal dominant	Spondylometaphyseal dysplasia	BEFREE	12355402, 18245137, 21623771, 27414745, 29566793, 30411208		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 10, autosomal dominant	Spondylometaphyseal dysplasia	UNIPROT_DG	12355402, 15452312, 16476820, 16489470, 18203753, 18245137, 18853458, 21107874		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 10, autosomal dominant	Spondylometaphyseal dysplasia	GENOMICS_ENGLAND_DG	16476820, 25352184, 29566793, 29903433		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 10, autosomal dominant	Spondylometaphyseal dysplasia	ORPHANET_DG	21623771		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 10, autosomal dominant	Spondylometaphyseal dysplasia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 10, autosomal dominant	Spondylometaphyseal dysplasia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia 31 Autosomal Dominant	Spastic paraplegia	Pubtator	29908077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	10441583, 18245137, 25008398, 25957632, 26374131, 28678816, 28832565, 29566793, 30366951, 30778698, 33829936, 34983064, 36574689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	12355402, 16476820, 16489470, 18245137, 21107874, 21623771, 22714410, 22785106, 22788249, 25008398, 26403765, 28678816, 29566793, 30366951, 30411208		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	LHGDN	15452312, 16489470		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	GENOMICS_ENGLAND_DG	24357685		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	CLINVAR_DG	28832565		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal muscular atrophy Jerash type	Spinal muscular atrophy	Pubtator	25957632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	30778698	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Upper limb amyotrophy	Limb amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

KIF5A (kinesin family member 5A)