NEFL (neurofilament light chain)

Gene

• Entrez ID: 4747
• Gene name: Neurofilament light chain
• Gene symbol: NEFL
• Synonyms (NCBI Gene): CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL, PPP1R110
• Chromosome: 8
• Chromosome location: 8p21.2
• Summary: Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3832558	CTC>-	Pathogenic, benign	Inframe deletion, coding sequence variant
rs28928910	G>A,T	Not-provided, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs58640772	->TCCACGTAGCGCC	Not-provided, uncertain-significance, pathogenic	Coding sequence variant, frameshift variant
rs58982919	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs59101996	G>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs60261494	GG>CT	Not-provided, pathogenic	Coding sequence variant, missense variant
rs61491953	G>A,C,T	Not-provided, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs62636505	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs62636522	G>A,C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs121913663	C>A,T	Uncertain-significance, not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs199422214	C>A,G	Pathogenic	Stop gained, missense variant, coding sequence variant
rs267607538	G>C,T	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs377121179	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs876661155	C>A,G	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1057517776	A>C,G	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028294	hsa-miR-32-5p	Sequencing	20371350
MIRT1179970	hsa-miR-105	CLIP-seq
MIRT1179971	hsa-miR-1252	CLIP-seq
MIRT1179972	hsa-miR-1266	CLIP-seq
MIRT1179973	hsa-miR-137	CLIP-seq
MIRT1179974	hsa-miR-140-3p	CLIP-seq
MIRT1179975	hsa-miR-2467-3p	CLIP-seq
MIRT1179976	hsa-miR-25	CLIP-seq
MIRT1179977	hsa-miR-30a	CLIP-seq
MIRT1179978	hsa-miR-30b	CLIP-seq
MIRT1179979	hsa-miR-30c	CLIP-seq
MIRT1179980	hsa-miR-30d	CLIP-seq
MIRT1179981	hsa-miR-30e	CLIP-seq
MIRT1179982	hsa-miR-3120-3p	CLIP-seq
MIRT1179983	hsa-miR-32	CLIP-seq
MIRT1179984	hsa-miR-330-3p	CLIP-seq
MIRT1179985	hsa-miR-3613-3p	CLIP-seq
MIRT1179986	hsa-miR-363	CLIP-seq
MIRT1179987	hsa-miR-367	CLIP-seq
MIRT1179988	hsa-miR-3678-3p	CLIP-seq
MIRT1179989	hsa-miR-3692	CLIP-seq
MIRT1179990	hsa-miR-3908	CLIP-seq
MIRT1179991	hsa-miR-4427	CLIP-seq
MIRT1179992	hsa-miR-4518	CLIP-seq
MIRT1179993	hsa-miR-4680-3p	CLIP-seq
MIRT1179994	hsa-miR-510	CLIP-seq
MIRT1179995	hsa-miR-545	CLIP-seq
MIRT1179996	hsa-miR-548p	CLIP-seq
MIRT1179997	hsa-miR-582-3p	CLIP-seq
MIRT1179998	hsa-miR-802	CLIP-seq
MIRT1179999	hsa-miR-92a	CLIP-seq
MIRT1180000	hsa-miR-92b	CLIP-seq
MIRT2052042	hsa-miR-4305	CLIP-seq
MIRT2052043	hsa-miR-4457	CLIP-seq
MIRT2052044	hsa-miR-513b	CLIP-seq
MIRT2281413	hsa-miR-185	CLIP-seq
MIRT2281414	hsa-miR-203	CLIP-seq
MIRT2281415	hsa-miR-2113	CLIP-seq
MIRT2281416	hsa-miR-3150a-3p	CLIP-seq
MIRT2281417	hsa-miR-3151	CLIP-seq
MIRT2281418	hsa-miR-3175	CLIP-seq
MIRT2281419	hsa-miR-4265	CLIP-seq
MIRT2281420	hsa-miR-4282	CLIP-seq
MIRT2281421	hsa-miR-4296	CLIP-seq
MIRT2281422	hsa-miR-4306	CLIP-seq
MIRT2281423	hsa-miR-4322	CLIP-seq
MIRT2281424	hsa-miR-4447	CLIP-seq
MIRT2281425	hsa-miR-4472	CLIP-seq
MIRT2281426	hsa-miR-4644	CLIP-seq
MIRT2281427	hsa-miR-491-5p	CLIP-seq
MIRT2281428	hsa-miR-939	CLIP-seq
MIRT1179970	hsa-miR-105	CLIP-seq
MIRT1179989	hsa-miR-3692	CLIP-seq
MIRT2455046	hsa-miR-4696	CLIP-seq
MIRT1179970	hsa-miR-105	CLIP-seq
MIRT1179989	hsa-miR-3692	CLIP-seq
MIRT2455046	hsa-miR-4696	CLIP-seq
MIRT2579585	hsa-miR-103b	CLIP-seq
MIRT2579586	hsa-miR-1276	CLIP-seq
MIRT2579587	hsa-miR-224	CLIP-seq
MIRT2579588	hsa-miR-23a	CLIP-seq
MIRT2579589	hsa-miR-23b	CLIP-seq
MIRT2579590	hsa-miR-23c	CLIP-seq
MIRT2579591	hsa-miR-3125	CLIP-seq
MIRT2579592	hsa-miR-3664-5p	CLIP-seq
MIRT2579593	hsa-miR-376a	CLIP-seq
MIRT2579594	hsa-miR-376b	CLIP-seq
MIRT2579595	hsa-miR-376c	CLIP-seq
MIRT2579596	hsa-miR-3916	CLIP-seq
MIRT2579597	hsa-miR-4311	CLIP-seq
MIRT2579598	hsa-miR-4330	CLIP-seq
MIRT2579599	hsa-miR-4714-3p	CLIP-seq
MIRT2579600	hsa-miR-4714-5p	CLIP-seq
MIRT2579601	hsa-miR-4760-3p	CLIP-seq
MIRT2579602	hsa-miR-4789-5p	CLIP-seq
MIRT2579603	hsa-miR-583	CLIP-seq
MIRT2579585	hsa-miR-103b	CLIP-seq
MIRT2579586	hsa-miR-1276	CLIP-seq
MIRT2579591	hsa-miR-3125	CLIP-seq
MIRT2579592	hsa-miR-3664-5p	CLIP-seq
MIRT2579593	hsa-miR-376a	CLIP-seq
MIRT2579594	hsa-miR-376b	CLIP-seq
MIRT2579596	hsa-miR-3916	CLIP-seq
MIRT2579597	hsa-miR-4311	CLIP-seq
MIRT2579600	hsa-miR-4714-5p	CLIP-seq
MIRT2579601	hsa-miR-4760-3p	CLIP-seq
MIRT2579603	hsa-miR-583	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOS	Activation	8180132
JUN	Activation	8180132

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IDA	12432080
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	12226091, 12837694, 15383276, 21044950, 22458338, 24722188, 25416956, 26871637, 27107012, 27173435, 28514442, 32296183, 32814053, 33961781, 35271311, 35512704
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0005883	Component	Neurofilament	IDA	15857389
GO:0005883	Component	Neurofilament	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0008089	Process	Anterograde axonal transport	IMP	15857389
GO:0008090	Process	Retrograde axonal transport	IMP	15857389
GO:0009636	Process	Response to toxic substance	IEA
GO:0014012	Process	Peripheral nervous system axon regeneration	IEA
GO:0015631	Function	Tubulin binding	IDA	26016807
GO:0019896	Process	Axonal transport of mitochondrion	IMP	15857389
GO:0019904	Function	Protein domain specific binding	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IDA	14662745
GO:0030424	Component	Axon	IEA
GO:0030426	Component	Growth cone	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	ISS
GO:0031133	Process	Regulation of axon diameter	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0033693	Process	Neurofilament bundle assembly	IBA
GO:0033693	Process	Neurofilament bundle assembly	IDA	12432080
GO:0033693	Process	Neurofilament bundle assembly	IEA
GO:0033693	Process	Neurofilament bundle assembly	IMP	15857389
GO:0040011	Process	Locomotion	IEA
GO:0042802	Function	Identical protein binding	IPI	12432080
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043274	Function	Phospholipase binding	IEA
GO:0043434	Process	Response to peptide hormone	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045105	Process	Intermediate filament polymerization or depolymerization	IEA
GO:0045109	Process	Intermediate filament organization	IEA
GO:0045109	Process	Intermediate filament organization	IMP	12432080, 17052987
GO:0045110	Process	Intermediate filament bundle assembly	IEA
GO:0045111	Component	Intermediate filament cytoskeleton	IEA
GO:0048812	Process	Neuron projection morphogenesis	IEA
GO:0050772	Process	Positive regulation of axonogenesis	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0051258	Process	Protein polymerization	IEA
GO:0051412	Process	Response to corticosterone	IEA
GO:0060052	Process	Neurofilament cytoskeleton organization	IEA
GO:0090128	Process	Regulation of synapse maturation	IEA
GO:0097049	Process	Motor neuron apoptotic process	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098981	Component	Cholinergic synapse	IEA
GO:0099160	Component	Postsynaptic intermediate filament cytoskeleton	IBA
GO:0099160	Component	Postsynaptic intermediate filament cytoskeleton	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:0099182	Component	Presynaptic intermediate filament cytoskeleton	IEA
GO:0099184	Function	Structural constituent of postsynaptic intermediate filament cytoskeleton	IBA
GO:0099184	Function	Structural constituent of postsynaptic intermediate filament cytoskeleton	IEA
GO:0099185	Process	Postsynaptic intermediate filament cytoskeleton organization	IEA
GO:1903935	Process	Response to sodium arsenite	IEA
GO:1903937	Process	Response to acrylamide	IEA
GO:1904115	Component	Axon cytoplasm	IEA
GO:2000672	Process	Negative regulation of motor neuron apoptotic process	IEA

Other IDs

• MIM: 162280
• HGNC: 7739
• e!Ensembl: ENSG00000277586

Protein

• UniProt ID: P07196
• Protein name: Neurofilament light polypeptide (NF-L) (68 kDa neurofilament protein) (Neurofilament triplet L protein)
• Protein function: Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04732	Filament_head	9 → 88	Intermediate filament head (DNA binding) region	Family
  PF00038	Filament	89 → 399	Intermediate filament protein	Coiled-coil

• Sequence:

  MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSS
  SGSLMPSLENLDLSQVAAISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEA
  ELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQALQGEREGLEETLRNLQARYEE
  EVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQY
  AQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRA
  AKDEVSESRRLLKAKTLEIEACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRT
  TKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRLSFTSVGSITSGYSQSSQVFG
  RSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEE
  KDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAK
  KKD

• Sequence length: 543

Pathways

KEGG:

Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases

Reactome:

Unblocking of NMDA receptors, glutamate binding and activation
RAF/MAP kinase cascade

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
Auditory neuropathy	Pathogenic	rs2486886357	RCV003484487	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs587777880, rs191346286, rs58982919, rs62636503, rs61491953, rs1803032912, rs1803033886, rs1803034177, rs774653437	RCV000857200 RCV001174357 RCV000857201 RCV001174356 RCV001174358 RCV000789663 RCV001172728 RCV001172730 RCV001172731 RCV001172729	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 1C	Likely pathogenic; Pathogenic	rs28928910	RCV000194357	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 1F	Likely pathogenic; Pathogenic	rs1431523432, rs2117256073, rs28928910, rs60261494, rs121913663, rs199422214, rs1429859627, rs58982919, rs62636503	RCV001353164 RCV001808008 RCV001196666 RCV000015075 RCV000015079 RCV000022674 RCV002250649 RCV000034136 RCV005406797	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 2E	Pathogenic; Likely pathogenic	rs201616934, rs545637885, rs2117254540, rs2117255104, rs1431523432, rs2486883041, rs191346286, rs1586127899, rs2486886254, rs2486886183, rs1554497573, rs2486881810, rs1325294849, rs59443585, rs28928910, rs60261494, rs62636505, rs2486881927, rs2486886091, rs876661155, rs1429859627, rs58982919, rs757417962, rs62636503, rs61491953, rs58332872, rs1586128143, rs766951637	RCV001387360 RCV001866184 RCV001948781 RCV002250135 RCV002250136 RCV003037286 RCV000172912 RCV002620475 RCV002614426 RCV002736069 RCV002970693 RCV003013181 RCV003516310 RCV000015072 RCV000015073 RCV000015074 RCV000015078 RCV003630688 RCV003881959 RCV000408890 RCV005091170 RCV000554079 RCV000640663 RCV000534161 RCV000234847 RCV001235472 RCV001854171 RCV001858751 RCV001057496	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease, dominant intermediate G	Likely pathogenic; Pathogenic	rs2486887879, rs58982919, rs62636503	RCV005254768 RCV000585792 RCV000585797	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Decreased nerve conduction velocity	Likely pathogenic; Pathogenic	rs28928910	RCV000414916	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Likely pathogenic; Pathogenic	rs58982919	RCV001843465	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal lower limb muscle weakness	Likely pathogenic; Pathogenic	rs28928910	RCV000415401	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal muscle weakness	Likely pathogenic; Pathogenic	rs28928910	RCV000414916	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hand muscle atrophy	Likely pathogenic; Pathogenic	rs28928910	RCV000414916	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEFL-related disorder	Likely pathogenic; Pathogenic	rs58982919	RCV005867811	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral demyelination	Likely pathogenic; Pathogenic	rs28928910	RCV000414916	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral neuropathy	Likely pathogenic; Pathogenic	rs28928910, rs1586128169, rs62636502	RCV000414916 RCV001836904 RCV001836726	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pes cavus	Likely pathogenic; Pathogenic	rs28928910	RCV000415401	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder	Likely pathogenic; Pathogenic	rs58982919	RCV001843465	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2DD	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE TYPE 2	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE TYPE 2B5	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, axonal, type 2EE	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2E	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, type I	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PES CAVUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal spinal muscular atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	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 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	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronopathy, distal hereditary motor, autosomal dominant	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tip-toe gait	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	35269535	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	11231025, 26556829		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19888461, 29070659, 29558979, 29631614, 29747637, 30390718, 30786919, 30902060, 31779670, 32304290, 32470423, 33055205, 33183357, 33512503, 33527648, 34920091, 35167933, 35173266, 35383826, 36261295, 36626935, 36635346, 37038190, 37079306, 37279390, 37348871, 37400888, 37875471, 37899059, 37924152, 38454901, 39354618, 39358810, 39385222, 39940998	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21983493, 29391125, 30664784, 33883011	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	26497684		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	28692877, 29237796, 30051512, 30365928, 30419087, 30770953, 30883350, 31572170, 31709776		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	38182630	Associate	★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	31583784		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	10515233, 10884316, 11090858, 12641746, 12730211, 15020220, 17542619, 17903209, 2153897, 22835604, 23286752, 25457553, 27040688, 28264096, 28500227, 28718500, 29322259, 29908069, 30014505, 30029677, 30187162, 30215603, 30291183, 30309882, 30508027, 30631300, 31437330, 31702471, 31742901, 7909836		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	12730211, 16084104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	12730211, 23705811, 25934855, 28264096, 34349004, 35585374, 37184603, 39241471, 39270623	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	24454911, 30029677	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	30014505, 34764380	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	23286752		★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	23705811	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	30215603	Stimulate	★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	31371701		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	37314537	Associate	★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	BEFREE	28629249		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	26209061, 26879754, 8416742		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	28501821, 35044100	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	33878608	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	29737427		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	24242746, 27581216, 29070659, 29367444, 33172960, 33827960, 35584575, 36192766	Associate	★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory neuropathy	Pubtator	18023247	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorder	Autism	Pubtator	36769380	Stimulate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2E	Charcot-Marie-Tooth Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	21983493, 29631614, 32470423, 35167933, 37315450, 39337499	Associate	★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	BEFREE	28592456, 30209235, 30349860, 30906945		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	15054476, 16023328, 17113057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain atrophy	Brain atrophy	BEFREE	28692877, 29272357, 29367444, 30209235, 31145586		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	33658322, 37924152	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	36655331	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22319610, 24026393, 25985363		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22319610, 25985363	Associate	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	30787165		★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	30656183		★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	29558979	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	8120418	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26801564		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37079385	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37828521	Associate	★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	BEFREE	30055504		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	28501821, 32979786	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Angiitis	Cerebral Angiitis	BEFREE	31211179		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	28692877, 29272357, 29367444, 30209235, 31145586		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	30664784	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	29046363		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30599262, 31138085, 31381510		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	29096697		★☆☆☆☆ Found in Text Mining only
CEROID LIPOFUSCINOSIS, NEURONAL, 2	Neuronal ceroid lipofuscinosis	BEFREE	31814335		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	11835375, 12432080, 12477167, 12566280, 14733962, 15241803, 15282209, 15535039, 15857389, 16930284, 17052987, 17620486, 19158810, 22155564, 22734908, 23618875, 23992471, 24887401, 25091364, 25264603, 25448007, 25552649, 25877835, 26645395, 27040688, 27643807, 27649278, 27862672, 28501821, 29191368, 29321234, 29940160, 30734407, 31715019		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	LHGDN	16452125, 17620486, 18758688		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 1F	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 2B5	Charcot-Marie-Tooth Disease	ORPHANET_DG	20039262		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 2B5	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)	Charcot-Marie-Tooth Disease	UNIPROT_DG	10841809, 11220745, 12481988, 15241803, 17052987, 22206013, 25802885		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	10841809, 23618875		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)	Charcot-Marie-Tooth Disease	BEFREE	11220745, 21493625, 24887401, 25448007, 31574566		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)	Charcot-Marie-Tooth Disease	CLINVAR_DG	12477167, 12566280, 14733962, 17052987, 19158810, 21493625, 21840889, 22206013, 22288874, 24887401, 25448007, 25552649, 25877835, 26109717, 26645395, 27206872, 27549087		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)	Charcot-Marie-Tooth Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, demyelinating, Type 1F	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	10841809, 23618875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, demyelinating, Type 1F	Charcot-Marie-Tooth Disease	UNIPROT_DG	12566280, 15241803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, demyelinating, Type 1F	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, demyelinating, Type 1F	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG	10841809, 23618875		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G	Charcot-Marie-Tooth disease	UNIPROT_DG	14733962, 17052987, 25877835, 26645395		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G	Charcot-Marie-Tooth disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease, Type 1C	Charcot-Marie-Tooth Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, Type 2B1	Charcot-Marie-Tooth disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	BEFREE	31833243		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	29758941		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25776526	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29391125, 30419087, 32470423, 32681213, 33204362, 39594668, 39978165	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	30419087, 39270623	Associate	★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	25264603		★☆☆☆☆ Found in Text Mining only
Congenital pes cavus	Congenital Pes Cavus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticobasal Degeneration	Corticobasal degeneration	Pubtator	29514947	Stimulate	★☆☆☆☆ Found in Text Mining only
Corticobasal degeneration	Corticobasal Degeneration	BEFREE	30036569, 30508027		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	29391125, 29487167, 30309804		★☆☆☆☆ Found in Text Mining only
Degenerative brain disorder	Degenerative Brain Disorder	BEFREE	27794264		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	30522125, 31802104		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28346578, 28428015, 29391125, 29558979, 29631614, 29959263, 30508027, 30678707, 30883350, 30902060, 30951523, 31009028, 31026486, 31585366		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	29070659, 29631614, 33032662, 34913545, 35044100, 37175824	Associate	★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	29391125, 33204362, 33883011	Stimulate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	30771578		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	33658322, 35044100	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31522600		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	37314537, 37951931	Associate	★☆☆☆☆ Found in Text Mining only
Deuteranomaly	Deuteranomaly	BEFREE	30036569		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28930613		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28930613, 31138085		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29370869		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30527256		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	36472640	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Cerebral Sclerosis of Schilder	Schilder disease	Pubtator	33172960	Associate	★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	19758141, 29631614, 30902060, 31156181		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	29631614, 30902060, 32192521	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	30261896, 30944980		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	31375414		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29631614		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	9037314		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	29070659, 30786919, 31514172		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	23718879, 29391125, 33883011	Stimulate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	24242746, 27581216, 28264096, 29514947, 31701893, 33108404, 33452053, 33626531, 34349004, 34743360, 35492244, 35988220, 36138153, 36799407, 37491327, 38253362, 39577322, 39934339, 39940998	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	27581216, 28392472, 28527630, 28631955, 29328927, 29391125, 29514947, 29761121, 30013506, 30291183, 30320576, 30508027, 30953863, 31701893		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	28592456, 29559004, 31595378		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	24133624		★☆☆☆☆ Found in Text Mining only
Giant Axonal Neuropathy	Giant axonal neuropathy	Pubtator	25398950	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31770516		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	17233837, 25605243, 30463513	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23152907, 25605243, 29972178, 31132447		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23152907, 25605243, 29972178, 31132447		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25605243, 26879754, 8456947		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25605243, 26879754, 8456947	Associate	★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	29624650		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	22246235		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	22246235	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	18023247	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	28501821, 29293505, 34360009	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	30009206		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	11231025, 25583183		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory Neuropathy Type I	Hereditary motor and sensory neuropathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	10841809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	31788662	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	1850065, 28241046, 28601473, 29074982, 29367444, 30209243		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	28241046, 29367444, 32181593, 32470422, 33328328, 33636389, 37315450, 40256911	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	35437792	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	26556829		★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	29556208		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29391125, 29797629, 30103065, 30478269, 30508027, 30982375, 31129709, 31145586, 31182505		★☆☆☆☆ Found in Text Mining only
Insomnia Fatal Familial	Insomnia	Pubtator	30048013	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11231025		★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	29370869		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30217937, 31151840, 31375988, 31537188		★☆☆☆☆ Found in Text Mining only
Late-Infantile Neuronal Ceroid Lipfuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	31814335		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	22510739	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	21983493		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	29391125, 31189032		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	33883011	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28099960		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	31432691	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22319610	Inhibit	★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	31684998		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	15054476, 16023328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	31088642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	22246235		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22319610, 24026393, 25985363, 8814452		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26801564		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22319610, 23992471, 24026393, 25985363, 8097582		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	2478022	Associate	★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	33479417	Stimulate	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	33183357	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31522600		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30953863, 31220922, 31595378		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11231025		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	19864909, 27794264, 28346578, 29370869, 29391125, 29747637, 30036759, 30419087, 30508027, 30579367, 31009028, 31145586, 31381510, 31700989		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	30004022		★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	BEFREE	30004022		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	30737333, 31347948, 31611264		★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	17006927, 29908069		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	10515233, 25264603, 28631955		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	25264603, 37133535	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	35988220	Stimulate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	37930670	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis II	Mucopolysaccharidosis	Pubtator	39978165	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	14705970, 28537100, 28627962, 28718500, 29068494, 29079686, 29370869, 29452342, 29774770, 29797629, 30113249, 30214214, 30287870, 30317548, 30564615, 30570436, 30635483, 30737333, 30761586, 30912689, 30982375, 31024432, 31123141, 31129709, 31314847, 31347948, 31404762, 31608004, 31610732, 31611264, 31680621		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33172960, 33658322, 37903821, 37930670, 39337499	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	25860354	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	28261960, 29860296, 30113249, 30737333, 31211172, 31611264, 31657006		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	31123861	Associate	★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	GENOMICS_ENGLAND_DG	25264603		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	25264603	Associate	★☆☆☆☆ Found in Text Mining only
Myxopapillary ependymoma	Myxopapillary Ependymoma	BEFREE	19793339		★☆☆☆☆ Found in Text Mining only
Narcolepsy type 1	Narcolepsy	BEFREE	31552425		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22319610, 23992471, 25605243, 31057612, 8814452, 9338751		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	31057612		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	35044100	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	17903209, 28718500, 29370869, 30171200, 30309804, 30843469, 30967444, 31070772, 31087810, 31220922, 31385229		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19216736, 25312269		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19216736, 21194500, 25312269, 29507419	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25776526, 29070659, 29096697, 29237796, 29367444, 29631614, 30390718, 30419087, 30664784, 30786919, 31295725, 31595378, 32470423, 32522711, 33108404, 33527648, 33878608, 33883011, 34696502, 35269535, 35418452, 35988220, 36472640, 36527130, 37038190, 37848414, 39354618, 39849490	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29391125	Stimulate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26991855, 28392472, 29370869, 29937097, 30508027, 30524361, 30569449, 30631300, 31220922, 31295725, 31601232, 31684998, 31744001		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	25264603		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	25264603	Associate	★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	31471502		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	12432080, 14733962, 17052987, 18758688, 24733614, 24887401, 25893792, 29191368, 29940160, 31583784		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26801564		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	8814452		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27919454		★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	30857557		★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	34764955	Associate	★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	32979786	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	12231460, 26991855, 27896490, 28179466, 28604235, 29370869, 30036569, 30171200, 30478269, 30981640, 31145128, 31420461		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26497684, 35418452, 40715263	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	29391125, 34285331	Stimulate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	27896490		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	LHGDN	16678934		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	28179466, 28604235, 30478269, 30508027, 30814322, 31070772, 31145128		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	26556829		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	18758688, 19286384		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	24733614, 26556829, 29321234, 29974556		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	28264096, 29321234, 31788662	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	24733614, 26556829		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral Neuropathy	Peripheral Neuropathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pick Disease of the Brain	Pica	BEFREE	15068247, 27581216, 28631955, 29391125, 29761121, 30320576, 30508027, 30953863, 31701893		★☆☆☆☆ Found in Text Mining only
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	BEFREE	29282336		★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	32979786, 36031490	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28346578, 28428015, 29391125, 29631614, 29959263, 30508027, 30678707, 30883350, 30902060, 30951523, 31009028, 31026486, 31585366		★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	BEFREE	28179468, 28592456, 30349860, 31640103		★☆☆☆☆ Found in Text Mining only
Prion Diseases	Prion disease	Pubtator	29391125, 33674752, 33883011	Stimulate	★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	28592456, 28600442, 29282336, 29937097, 30036569, 30508027		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	9338751		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	14969737, 16702973, 18033238		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16023328, 16702973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	19034380, 19110265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	40591616	Associate	★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	BEFREE	31123142		★☆☆☆☆ Found in Text Mining only
Senile cardiac amyloidosis	Senile Cardiac Amyloidosis	BEFREE	31583784		★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	BEFREE	26645395		★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep-Disordered Breathing	Sleep Apnea	BEFREE	27993286		★☆☆☆☆ Found in Text Mining only
Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration	BEFREE	19864909		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	32979786	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	33819388	Stimulate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	30009206		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	31123861, 31205491, 31552549		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	33636389	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23992471		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	33479417, 39824235	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29164612, 31808039		★☆☆☆☆ Found in Text Mining only
Subcortical Vascular Dementia	Subcortical Vascular Dementia	BEFREE	19864909		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	28461218		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	15054476, 16023328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	31088642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neurogenic	Neurogenic bladder	Pubtator	25264603	Associate	★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	BEFREE	17973976		★☆☆☆☆ Found in Text Mining only