MAG (myelin associated glycoprotein)

Gene

• Entrez ID: 4099
• Gene name: Myelin associated glycoprotein
• Gene symbol: MAG
• Synonyms (NCBI Gene): GMA, S-MAG, SIGLEC-4A, SIGLEC4, SIGLEC4A, SPG75
• Chromosome: 19
• Chromosome location: 19q13.12
• Summary: The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sialylated glycoconjugates and mediates certain myelin-neu

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2301600	C>A,G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs144553163	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587777229	T>G	Pathogenic	Coding sequence variant, missense variant
rs771777424	->AGCTG	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT454597	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT454596	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT691818	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT454594	hsa-miR-3926	HITS-CLIP	23313552
MIRT454595	hsa-miR-548s	HITS-CLIP	23313552
MIRT499038	hsa-miR-4311	PAR-CLIP	24398324
MIRT499036	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT499037	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT499035	hsa-miR-6873-5p	PAR-CLIP	24398324
MIRT499034	hsa-miR-4476	PAR-CLIP	24398324
MIRT499032	hsa-miR-6876-5p	PAR-CLIP	24398324
MIRT499033	hsa-miR-1321	PAR-CLIP	24398324
MIRT499031	hsa-miR-4739	PAR-CLIP	24398324
MIRT499030	hsa-miR-4756-5p	PAR-CLIP	24398324
MIRT499028	hsa-miR-4419a	PAR-CLIP	24398324
MIRT499029	hsa-miR-4510	PAR-CLIP	24398324
MIRT499027	hsa-miR-6127	PAR-CLIP	24398324
MIRT499026	hsa-miR-6129	PAR-CLIP	24398324
MIRT499024	hsa-miR-6130	PAR-CLIP	24398324
MIRT499025	hsa-miR-6133	PAR-CLIP	24398324
MIRT499023	hsa-miR-3202	PAR-CLIP	24398324
MIRT499022	hsa-miR-766-5p	PAR-CLIP	24398324
MIRT499021	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT454597	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT454596	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT454594	hsa-miR-3926	PAR-CLIP	23592263
MIRT454595	hsa-miR-548s	PAR-CLIP	23592263
MIRT454597	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT454596	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT691818	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT454594	hsa-miR-3926	HITS-CLIP	23313552
MIRT454595	hsa-miR-548s	HITS-CLIP	23313552
MIRT499038	hsa-miR-4311	PAR-CLIP	24398324
MIRT499036	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT499037	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT499035	hsa-miR-6873-5p	PAR-CLIP	24398324
MIRT499034	hsa-miR-4476	PAR-CLIP	24398324
MIRT499032	hsa-miR-6876-5p	PAR-CLIP	24398324
MIRT499033	hsa-miR-1321	PAR-CLIP	24398324
MIRT499031	hsa-miR-4739	PAR-CLIP	24398324
MIRT499030	hsa-miR-4756-5p	PAR-CLIP	24398324
MIRT499028	hsa-miR-4419a	PAR-CLIP	24398324
MIRT499029	hsa-miR-4510	PAR-CLIP	24398324
MIRT499027	hsa-miR-6127	PAR-CLIP	24398324
MIRT499026	hsa-miR-6129	PAR-CLIP	24398324
MIRT499024	hsa-miR-6130	PAR-CLIP	24398324
MIRT499025	hsa-miR-6133	PAR-CLIP	24398324
MIRT499023	hsa-miR-3202	PAR-CLIP	24398324
MIRT499022	hsa-miR-766-5p	PAR-CLIP	24398324
MIRT499021	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT454597	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT454596	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT454594	hsa-miR-3926	PAR-CLIP	23592263
MIRT454595	hsa-miR-548s	PAR-CLIP	23592263
MIRT2265984	hsa-miR-3184	CLIP-seq
MIRT2265985	hsa-miR-423-5p	CLIP-seq
MIRT2265986	hsa-miR-486-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26179919
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0010977	Process	Negative regulation of neuron projection development	ISS
GO:0016020	Component	Membrane	IEA
GO:0019226	Process	Transmission of nerve impulse	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0021762	Process	Substantia nigra development	HEP	22926577
GO:0022010	Process	Central nervous system myelination	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0030517	Process	Negative regulation of axon extension	IEA
GO:0030517	Process	Negative regulation of axon extension	ISS
GO:0031103	Process	Axon regeneration	IEA
GO:0031643	Process	Positive regulation of myelination	IEA
GO:0032289	Process	Central nervous system myelin formation	IEA
GO:0033270	Component	Paranode region of axon	IEA
GO:0033691	Function	Sialic acid binding	IBA
GO:0033691	Function	Sialic acid binding	IEA
GO:0033691	Function	Sialic acid binding	ISS
GO:0035749	Component	Myelin sheath adaxonal region	IEA
GO:0042552	Process	Myelination	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0043209	Component	Myelin sheath	IDA	6200494
GO:0043209	Component	Myelin sheath	IEA
GO:0043218	Component	Compact myelin	IDA	6200494
GO:0043218	Component	Compact myelin	IEA
GO:0043220	Component	Schmidt-Lanterman incisure	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0045121	Component	Membrane raft	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0048711	Process	Positive regulation of astrocyte differentiation	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0097453	Component	Mesaxon	IEA
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IEA
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	ISS
GO:1905576	Function	Ganglioside GT1b binding	IEA
GO:1905576	Function	Ganglioside GT1b binding	ISS

Other IDs

• MIM: 159460
• HGNC: 6783
• e!Ensembl: ENSG00000105695

Protein

• UniProt ID: P20916
• Protein name: Myelin-associated glycoprotein (Siglec-4a)
• Protein function: Adhesion molecule that mediates interactions between myelinating cells and neurons by binding to neuronal sialic acid-containing gangliosides and to the glycoproteins RTN4R and RTN4RL2 (By similarity). Not required for initial myelination, but s
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08205	C2-set_2	141 → 226	CD80-like C2-set immunoglobulin domain	Domain
  PF13927	Ig_3	239 → 309		Domain
  PF13927	Ig_3	328 → 396		Domain

• Tissue specificity: TISSUE SPECIFICITY: Both isoform 1 and isoform 2 are detected in myelinated structures in the central and peripheral nervous system, in periaxonal myelin and at Schmidt-Lanterman incisures (PubMed:6200494, PubMed:9495552). Detected in optic nerve, in olig
• Sequence:

  MIFLTALPLFWIMISASRGGHWGAWMPSSISAFEGTCVSIPCRFDFPDELRPAVVHGVWY
  FNSPYPKNYPPVVFKSRTQVVHESFQGRSRLLGDLGLRNCTLLLSNVSPELGGKYYFRGD
  LGGYNQYTFSEHSVLDIVNTPNIVVPPEVVAGTEVEVSCMVPDNCPELRPELSWLGHEGL
  GEPAVLGRLREDEGTWVQVSLLHFVPTREANGHRLGCQASFPNTTLQFEGYASMDVKYPP
  VIVEMNSSVEAIEGSHVSLLCGADSNPPPLLTWMRDGTVLREAVAESLLLELEEVTPAED
  GVYACLAENAYGQDNRTVGLSVMYAPWKPTVNGTMVAVEGETVSILCSTQSNPDPILTIF
  KEKQILSTVIYESELQLELPAVSPEDDGEYWCVAENQYGQRATAFNLSVEFAPVLLLESH
  CAAARDTVQCLCVVKSNPEPSVAFELPSRNVTVNESEREFVYSERSGLVLTSILTLRGQA
  QAPPRVICTARNLYGAKSLELPFQGAHRLMWAKIGPVGAVVAFAILIAIVCYITQTRRKK
  NVTESPSFSAGDNPPVLFSSDFRISGAPEKYESERRLGSERRLLGLRGEPPELDLSYSHS
  DLGKRPTKDSYTLTEELAEYAEIRVK

• Sequence length: 626

Pathways

KEGG:

Cell adhesion molecules

Reactome:

Axonal growth inhibition (RHOA activation)
Basigin interactions

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
Hereditary spastic paraplegia 75	Pathogenic; Likely pathogenic	rs587777229, rs770601245, rs2301600, rs2513582014, rs2513601109, rs771777424, rs770788013, rs2066456693, rs2066519362	RCV000106310 RCV001998646 RCV000202409 RCV003338183 RCV003755873 RCV000578368 RCV000814586 RCV001254027 RCV001254028	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX HEREDITARY SPASTIC PARAPLEGIA	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLICATED HEREDITARY SPASTIC PARAPLEGIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAG-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	17223013		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	17828604		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	LHGDN	18236455		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	1380541	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	1380541	Associate	★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	39336794	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24841380		★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 75	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Capillary malformation (disorder)	Capillary malformation	BEFREE	27873347		★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	BEFREE	22491194		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	31402626	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28087807		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	16782355, 28087807, 28389617, 28583999, 29301973		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	10848494, 22940629		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	BEFREE	10848494		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	BEFREE	22940629		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	39336794	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32407773	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30297268		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30297268		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	22491194, 31402626	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	27933584		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28096677		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31402626	Associate	★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy Partial with Variable Foci	Progressive myoclonic epilepsy	Pubtator	27874947	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	39377933	Associate	★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	34301297	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	15312170		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	15312170	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31402626		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycoprotein Storage Disease	Glycoprotein storage disease	Pubtator	22426210	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	31402626	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	27873347		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	15817727	Stimulate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	10727485	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	27873347		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31402626		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31402626	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kearns-Sayre syndrome	Kearns Sayre Syndrome	BEFREE	22491194		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	2433811	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	37137530	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	15912883		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	15912883, 19725832	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	CTD_human_DG	19276553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	17291372, 19447584, 29477585		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29321047		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26026093, 28501579		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	8526907		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28096677		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	24841380		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	2433053, 27188752, 28403522, 28597710, 29159464, 30847948, 30992531		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10541588, 12020971, 27933584, 29246870, 29406891, 30482463		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33410190	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30474420		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27197026, 29061780		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	37137530	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28403522		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	9792616		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	31741707		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	27188752, 28597710, 29034435, 29403542, 30338181, 30992531, 31089861, 9792616		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	31402626	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	11603616		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	17974963		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	31402626	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	CTD_human_DG	19276553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	27766424		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	BEFREE	27766424		★☆☆☆☆ Found in Text Mining only
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	BEFREE	26179919		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	2438994, 28403522, 29159464		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	1370957, 1688442, 31402626	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	31741707		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	33622752	Stimulate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31741707		★☆☆☆☆ Found in Text Mining only
Poikiloderma with Neutropenia	Poikiloderma With Neutropenia	BEFREE	31705291		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	LHGDN	18236455, 18816614		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	30847948, 31677562		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29321047		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37280589	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15334603, 15820319, 16039057, 16213148, 16641098, 17223013, 17291369, 17291372, 17964117, 18496213, 21563301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	15820319, 16039057, 17964117		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16039057, 17223013, 17964117, 18496213, 21563301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	17223013	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorimotor neuropathy	Sensorimotor neuropathy	BEFREE	31402626		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	31726340		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	31402626		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE	Spastic Paraplegia	UNIPROT_DG	24482476, 26179919, 27606346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	24482476, 26179919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG	26179919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	31402626, 39336794	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	31402626		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	27873347		★☆☆☆☆ Found in Text Mining only
Temporal pallor of optic disc	Temporal Pallor Of Optic Disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	30936346	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	2438994		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	30936346	Associate	★☆☆☆☆ Found in Text Mining only