NEFH (neurofilament heavy chain)

Gene

• Entrez ID: 4744
• Gene name: Neurofilament heavy chain
• Gene symbol: NEFH
• Synonyms (NCBI Gene): CMT2CC, NFH
• Chromosome: 22
• Chromosome location: 22q12.2
• Summary: Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs149955255	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs606231212	CAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGG>-	Not-provided, risk-factor	Inframe deletion, coding sequence variant
rs876657411	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs876657412	->AGCC	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017917	hsa-miR-335-5p	Microarray	18185580
MIRT020455	hsa-miR-106b-5p	Microarray	17242205
MIRT021571	hsa-miR-142-3p	Microarray	17612493
MIRT1179953	hsa-miR-1207-5p	CLIP-seq
MIRT1179954	hsa-miR-1909	CLIP-seq
MIRT1179955	hsa-miR-2861	CLIP-seq
MIRT1179956	hsa-miR-3192	CLIP-seq
MIRT1179957	hsa-miR-3609	CLIP-seq
MIRT1179958	hsa-miR-371b-3p	CLIP-seq
MIRT1179959	hsa-miR-376c	CLIP-seq
MIRT1179960	hsa-miR-3978	CLIP-seq
MIRT1179961	hsa-miR-4290	CLIP-seq
MIRT1179962	hsa-miR-4325	CLIP-seq
MIRT1179963	hsa-miR-4488	CLIP-seq
MIRT1179964	hsa-miR-4697-5p	CLIP-seq
MIRT1179965	hsa-miR-4763-3p	CLIP-seq
MIRT1179966	hsa-miR-486-3p	CLIP-seq
MIRT1179967	hsa-miR-488	CLIP-seq
MIRT1179968	hsa-miR-548ah	CLIP-seq
MIRT1179969	hsa-miR-661	CLIP-seq
MIRT2052038	hsa-miR-154	CLIP-seq
MIRT2052039	hsa-miR-3122	CLIP-seq
MIRT2052040	hsa-miR-3910	CLIP-seq
MIRT2052041	hsa-miR-3913-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IMP	7536898
GO:0005200	Function	Structural constituent of cytoskeleton	ISS
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IDA	27040688
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005856	Component	Cytoskeleton	IDA	24327345
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IEA
GO:0005883	Component	Neurofilament	IBA
GO:0005883	Component	Neurofilament	IEA
GO:0005883	Component	Neurofilament	NAS	3138108, 9313898
GO:0007409	Process	Axonogenesis	IEA
GO:0007409	Process	Axonogenesis	TAS	17498690
GO:0008017	Function	Microtubule binding	TAS	17498690
GO:0014069	Component	Postsynaptic density	IEA
GO:0019894	Function	Kinesin binding	TAS	17498690
GO:0019901	Function	Protein kinase binding	IPI	9313898, 24327345
GO:0030031	Process	Cell projection assembly	TAS	17498690
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	TAS	14662745
GO:0030674	Function	Protein-macromolecule adaptor activity	ISS
GO:0033693	Process	Neurofilament bundle assembly	IMP	7536898
GO:0042995	Component	Cell projection	IEA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEA
GO:0045110	Process	Intermediate filament bundle assembly	IBA
GO:0045110	Process	Intermediate filament bundle assembly	IEA
GO:0045110	Process	Intermediate filament bundle assembly	IEA
GO:0048936	Process	Peripheral nervous system neuron axonogenesis	IEA
GO:0060052	Process	Neurofilament cytoskeleton organization	IEA
GO:0061564	Process	Axon development	IBA
GO:0061564	Process	Axon development	IEA
GO:0061564	Process	Axon development	IMP	7536898
GO:0070840	Function	Dynein complex binding	TAS	17498690
GO:0097418	Component	Neurofibrillary tangle	IDA	21828286
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0099160	Component	Postsynaptic intermediate filament cytoskeleton	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	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:1902513	Process	Regulation of organelle transport along microtubule	IMP	7536898
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

Other IDs

• MIM: 162230
• HGNC: 7737
• e!Ensembl: ENSG00000100285

Protein

• UniProt ID: P12036
• Protein name: Neurofilament heavy polypeptide (NF-H) (200 kDa neurofilament protein) (Neurofilament triplet H protein)
• Protein function: Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. NEFH has an important function in mature axons that is not subserved by the two smaller NF prote
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00038	Filament	96 → 412	Intermediate filament protein	Coiled-coil
  PF07142	DUF1388	522 → 547	Repeat of unknown function (DUF1388)	Repeat
  PF07142	DUF1388	536 → 561	Repeat of unknown function (DUF1388)	Repeat
  PF07142	DUF1388	590 → 610	Repeat of unknown function (DUF1388)	Repeat
  PF07142	DUF1388	595 → 624	Repeat of unknown function (DUF1388)	Repeat
  PF07142	DUF1388	624 → 651	Repeat of unknown function (DUF1388)	Repeat
  PF07142	DUF1388	664 → 692	Repeat of unknown function (DUF1388)	Repeat
  PF07142	DUF1388	678 → 706	Repeat of unknown function (DUF1388)	Repeat
  PF07142	DUF1388	692 → 720	Repeat of unknown function (DUF1388)	Repeat
  PF07142	DUF1388	706 → 734	Repeat of unknown function (DUF1388)	Repeat
  PF07142	DUF1388	720 → 748	Repeat of unknown function (DUF1388)	Repeat

• Sequence:

  MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSA
  SPSRFRGAGAASSTDSLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEA
  HNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAH
  VRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGE
  LLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRL
  SEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASY
  QEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPIPF
  SLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKE
  EEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKS
  PAEVKSPEKAKSPAKEEAKSPPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKS
  PEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKSPTKEEAKSPEKAKSPEKAKS
  PEKEEAKSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKAKSPVKEEAKSPEKAKSPVKE
  EAKSPEKAKSPVKEEAKTPEKAKSPVKEEAKSPEKAKSPEKAKTLDVKSPEAKTPAKEEA
  RSPADKFPEKAKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVKEEEKPQEVK
  VKEPPKKAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEPAVEKPKESKVEAKK
  EEAEDKKKVPTPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEK
  KDTKEEKAKKPEEKPKTEAKAKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATED
  KAAKGK

• Sequence length: 1026

Pathways

KEGG:

Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Charcot-Marie-Tooth disease axonal type 2C	Likely pathogenic	rs1602961831	RCV000991290	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease axonal type 2CC	Pathogenic; Likely pathogenic	rs876657411, rs876657412, rs766193278	RCV000210935 RCV000210933 RCV003321458	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Amyotrophic lateral sclerosis	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis type 1	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis, susceptibility to	risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEFH-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Conflicting classifications of pathogenicity; Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	20624930, 40118053	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29746584		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	10515233, 10833316, 10970056, 11090858, 18635547, 25957632, 28185258, 28544463, 28628244, 29054919, 30029677, 7536898, 7566355, 8462101, 8618684, 8871580, 9689131, 9875737		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	16084104, 18635547		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	23755159, 25009280, 25957632, 29959860, 30029677, 37612427, 40607881	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	23941283		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★☆☆ 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	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	8618684		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG			★☆☆☆☆ 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
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	40118053	Associate	★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	21278408, 25957632	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25985363		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25985363	Associate	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	15152038		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24012984, 36042248	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24464810, 35838992	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	15913737, 29732534		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	28544463, 28709447, 29587262, 30992180		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24464810		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	30180840	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	19758141		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29732534		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19472401	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	19472401	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	15361763		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	30464326		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	16005115		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	17363167		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	26666465		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	8110428, 9140799		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30567555		★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28249600	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24012984		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36732778	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25985363		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	15913737		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	8980241		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	30464326		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	31518073, 7566355		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	10515233, 14722583, 7566355, 9689131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Neuron Disease	Motor Neuron Disease	LHGDN	14722583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	15654034	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22216762, 24012984		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	34518334	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	16005115, 30567555		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25288151		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	17363167, 18635547		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	18635547		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	7617190, 8102569, 8414026		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	28498493		★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	29085182		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	15913737		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30833663		★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	25957632	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	28544463		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	10447555		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pick Disease of the Brain	Pica	BEFREE	15068247, 16005115		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	37781794	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37781794	Associate	★☆☆☆☆ Found in Text Mining only
Pseudobulbar Palsy	Pseudobulbar Palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24464810		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	24005033	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30735241		★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	40229714	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	25957632	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	31671515		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	20140245		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30703614		★☆☆☆☆ Found in Text Mining only
Upper limb amyotrophy	Limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only