SYP (synaptophysin)

Gene

• Entrez ID: 6855
• Gene name: Synaptophysin
• Gene symbol: SYP
• Synonyms (NCBI Gene): MRX96, MRXSYP, XLID96
• Chromosome: X
• Chromosome location: Xp11.23
• Summary: This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compart

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852561	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs139475570	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145093168	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201427270	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017945	hsa-miR-335-5p	Microarray	18185580
MIRT520838	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT520840	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT520839	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT520838	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT520837	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT520836	hsa-miR-3120-3p	HITS-CLIP	21572407
MIRT520835	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT520834	hsa-miR-5692b	HITS-CLIP	21572407
MIRT520833	hsa-miR-5692c	HITS-CLIP	21572407
MIRT520832	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT520830	hsa-miR-3145-3p	HITS-CLIP	21572407
MIRT520829	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT520828	hsa-miR-6083	HITS-CLIP	21572407
MIRT520838	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT520840	hsa-miR-374a-5p	PAR-CLIP	23446348
MIRT520839	hsa-miR-374b-5p	PAR-CLIP	23446348
MIRT520838	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT520837	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT520836	hsa-miR-3120-3p	PAR-CLIP	23446348
MIRT520835	hsa-miR-369-3p	PAR-CLIP	23446348
MIRT520834	hsa-miR-5692b	PAR-CLIP	23446348
MIRT520833	hsa-miR-5692c	PAR-CLIP	23446348
MIRT520832	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT520831	hsa-miR-545-3p	PAR-CLIP	23446348
MIRT520830	hsa-miR-3145-3p	PAR-CLIP	23446348
MIRT520829	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT520828	hsa-miR-6083	PAR-CLIP	23446348
MIRT732554	hsa-miR-375	RNA-seq	33037409
MIRT732555	hsa-miR-301a-3p	RNA-seq	33037409
MIRT520838	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT520840	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT520839	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT520838	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT520837	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT520836	hsa-miR-3120-3p	HITS-CLIP	21572407
MIRT520835	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT520834	hsa-miR-5692b	HITS-CLIP	21572407
MIRT520833	hsa-miR-5692c	HITS-CLIP	21572407
MIRT520832	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT520830	hsa-miR-3145-3p	HITS-CLIP	21572407
MIRT520829	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT520828	hsa-miR-6083	HITS-CLIP	21572407
MIRT520838	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT520840	hsa-miR-374a-5p	PAR-CLIP	23446348
MIRT520839	hsa-miR-374b-5p	PAR-CLIP	23446348
MIRT520838	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT520837	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT520836	hsa-miR-3120-3p	PAR-CLIP	23446348
MIRT520835	hsa-miR-369-3p	PAR-CLIP	23446348
MIRT520834	hsa-miR-5692b	PAR-CLIP	23446348
MIRT520833	hsa-miR-5692c	PAR-CLIP	23446348
MIRT520832	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT520831	hsa-miR-545-3p	PAR-CLIP	23446348
MIRT520830	hsa-miR-3145-3p	PAR-CLIP	23446348
MIRT520829	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT520828	hsa-miR-6083	PAR-CLIP	23446348
MIRT1406863	hsa-miR-1909	CLIP-seq
MIRT1406864	hsa-miR-3179	CLIP-seq
MIRT1406865	hsa-miR-3202	CLIP-seq
MIRT1406866	hsa-miR-4271	CLIP-seq
MIRT1406867	hsa-miR-4716-3p	CLIP-seq
MIRT1406868	hsa-miR-4725-3p	CLIP-seq
MIRT1406869	hsa-miR-4747-5p	CLIP-seq
MIRT1406870	hsa-miR-587	CLIP-seq
MIRT1406871	hsa-miR-625	CLIP-seq
MIRT2121961	hsa-miR-4650-5p	CLIP-seq
MIRT2121962	hsa-miR-4651	CLIP-seq
MIRT1406870	hsa-miR-587	CLIP-seq
MIRT2121963	hsa-miR-608	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PKNOX1	Activation	20864515
SP1	Unknown	12492469

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17500595, 32296183, 32814053
GO:0006897	Process	Endocytosis	ISS
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008021	Component	Synaptic vesicle	ISS
GO:0010807	Process	Regulation of synaptic vesicle priming	IEA
GO:0015485	Function	Cholesterol binding	IDA	10620806
GO:0016020	Component	Membrane	IEA
GO:0016188	Process	Synaptic vesicle maturation	NAS	10620806
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	NAS	1975480
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0042169	Function	SH2 domain binding	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043005	Component	Neuron projection	IDA	8838578
GO:0043005	Component	Neuron projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0043195	Component	Terminal bouton	IEA
GO:0044306	Component	Neuron projection terminus	IEA
GO:0045202	Component	Synapse	IEA
GO:0048168	Process	Regulation of neuronal synaptic plasticity	IBA
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	IEA
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	ISS
GO:0048172	Process	Regulation of short-term neuronal synaptic plasticity	IEA
GO:0048172	Process	Regulation of short-term neuronal synaptic plasticity	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048499	Process	Synaptic vesicle membrane organization	NAS	10620806
GO:0048786	Component	Presynaptic active zone	IBA
GO:0048786	Component	Presynaptic active zone	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0060076	Component	Excitatory synapse	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:2000474	Process	Regulation of opioid receptor signaling pathway	ISS

Other IDs

• MIM: 313475
• HGNC: 11506
• e!Ensembl: ENSG00000102003

Protein

• UniProt ID: P08247
• Protein name: Synaptophysin (Major synaptic vesicle protein p38)
• Protein function: Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01284	MARVEL	21 → 221	Membrane-associating domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brain, with expression in the hippocampus, the neuropil in the dentate gyrus, where expression is higher in the outer half of the molecular layer than in the inner half, and in the neuropil of CA4 and CA3 (PubMed:88385
• Sequence:

  MLLLADMDVVNQLVAGGQFRVVKEPLGFVKVLQWVFAIFAFATCGSYSGELQLSVDCANK
  TESDLSIEVEFEYPFRLHQVYFDAPTCRGGTTKVFLVGDYSSSAEFFVTVAVFAFLYSMG
  ALATYIFLQNKYRENNKGPMLDFLATAVFAFMWLVSSSAWAKGLSDVKMATDPENIIKEM
  PVCRQTGNTCKELRDPVTSGLNTSVVFGFLNLVLWVGNLWFVFKETGWAAPFLRAPPGAP
  EKQPAPGDAYGDAGYGQGPGGYGPQDSYGPQGGYQPDYGQPAGSGGSGYGPQGDYGQQGY
  GPQGAPTSFSNQM

• Sequence length: 313

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
Intellectual disability, X-linked 96	Likely pathogenic; Pathogenic	rs1557103814, rs2147882650, rs2147884161, rs137852561, rs2520590361, rs2065508863	RCV001824549 RCV000010538 RCV000010539 RCV000010541 RCV003883374 RCV002274175	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2147881303	RCV002274379	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 6	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 6A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-INFANTILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID CIPOFUSCINOSIS TYPE 6	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID-LIPOFUSCINOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SYNDROMIC X-LINKED INTELLECTUAL DISABILITY	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYP-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	14533935, 26482608, 30458812		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17724707		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	29556635		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	19755404, 31352437		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	19755404		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	7723281		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	10657486, 7723281		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	31352437	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	35921917	Stimulate	★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	7723281		★☆☆☆☆ Found in Text Mining only
Adult Learning Disorders	Learning Disorders	CTD_human_DG	21295146		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	19358275, 21161674		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	31690408		★☆☆☆☆ Found in Text Mining only
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	21295146		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	28887151		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22760556, 28598851	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22832605, 24927707, 30193587	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	8544899		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	20847448, 25747037, 27324898, 8093899		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16410746		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	11740050		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30293872		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28089772		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28089772		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	19284608	Inhibit	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	25032865		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	23726717, 25487813		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32193494	Associate	★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	31098770		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	19945534		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	19945534	Inhibit	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	22760556	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24701575, 27925203, 30031098		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11762336, 19167937, 24004513, 24277232, 27925203, 34764822	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35921917	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	21319031, 3103452, 33025460, 37598464	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	25884169	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoid, Goblet Cell	Carcinoma	BEFREE	25425263		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11740050, 14533935, 15077908, 24701575, 28972818		★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	34996493	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	24437456	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	28793172, 38066198, 39334415	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	39682758	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	12237909, 21762516, 22509088, 24375037, 28834900, 30045295	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33933015	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	28246485, 31513314, 31584482		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	30570870, 31688243		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy, Hereditary	Cerebral Amyloid Angiopathy	BEFREE	7839831		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	21073671		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	BEFREE	21073671		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	16505200, 27282770		★☆☆☆☆ Found in Text Mining only
Ceroid lipofuscinosis, neuronal 1, infantile	Neuronal ceroid lipofuscinosis	CTD_human_DG	21224254		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 6	Neuronal ceroid lipofuscinosis	CTD_human_DG	23516525		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Medulloblastoma	Medulloblastoma	BEFREE	19358275, 21161674		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	31690408		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma Extraskeletal Myxoid	Extraskeletal myxoid chondrosarcoma	Pubtator	38447752	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	12928056, 28623327, 30130557, 31251981		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25012223	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	30372675	Inhibit	★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	29232390	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25337237, 28454385, 29556635		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29556635	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28233444		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	36123899	Inhibit	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	10487842		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	29343737	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, familial Danish	Dementia	BEFREE	23418567		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	27539743, 31163225		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	12391607		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16443778, 29104117, 30127248		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	33858444	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16443778, 29104117, 30127248		★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	11484825		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	24927707, 29874583		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	24927707	Associate	★☆☆☆☆ Found in Text Mining only
Dysembryoplastic neuroepithelial tumor	Dysembryoplastic Neuroepithelial Tumor	BEFREE	12507133		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	12963753	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	26604067		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	26604067		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	26604067	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	16640646		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31247287, 31837458		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	28472972		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	27781423		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	7839831		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	31732726		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	21073671		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	23941441		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	24054724		★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	BEFREE	20386491		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12047721, 31626289		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31626289		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29935156, 30297697		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30297697	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	31687391		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	18973919	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	28475514		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	10487842		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	29162749		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	36401284	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	35974370	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	10818140, 12928056, 28384033, 28623327, 29573847, 30130557, 30542264, 31030091, 31251981		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	30851202		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28887151		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	31236816		★☆☆☆☆ Found in Text Mining only
Kearns-Sayre syndrome	Kearns Sayre Syndrome	BEFREE	10465502		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	CTD_human_DG	21295146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disorders	Learning Disorders	CTD_human_DG	21295146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disturbance	Learning Disorders	CTD_human_DG	21295146		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	30269223		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28731154		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28232156		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29360191, 30154579		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	38066198	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	19284608	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30059939		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24277232, 28523075, 30031098		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16731743, 26624980, 29245927		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22449227, 28194370, 29755405, 31804333		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	16405409, 17639056		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	1441916, 19358275, 21161674		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	18641877, 19358275	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26022451	Associate	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory Disorders	CTD_human_DG	21295146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	12391607		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	CTD_human_DG	19377476		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	19377476		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 96	Mental Retardation, X-Linked	GENOMICS_ENGLAND_DG	19377476		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 96	Mental Retardation, X-Linked	UNIPROT_DG	19377476		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 96	Mental Retardation, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 96	Mental Retardation, X-Linked	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked Nonsyndromic	Mental retardation	CLINGEN_DG	19377476, 21658579, 23966691, 28887151		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	28793172, 29894357		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28219715		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	23228147		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30372675		★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	28833756	Associate	★☆☆☆☆ Found in Text Mining only
MPS III B	Mucopolysaccharidosis	BEFREE	19386237		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10064395, 11075851, 11176064, 11319762, 11397864, 1441916, 1530108, 16167546, 1862545, 22344361, 22949944, 23435618, 23817694, 24277232, 24589859, 26192435, 28159676, 28441375, 28472972, 28523075, 28914716, 28939160, 28980157, 29112960, 29145864, 29374682, 30024526, 30171991, 30642849, 30863885, 31119524, 31626289, 31786484, 8362971, 9665483		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12210830, 24143857, 31220430, 31638925		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	14716776, 31638925	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	26037113	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28887151		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	27781423, 28472972		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	17699847, 19622622, 27639993, 28084345, 28194370, 28523180, 28719469, 28982917, 29390385, 30031098, 30354850, 30902843, 31517859, 9665483		★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	37679974	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	21595568		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22449227		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	BEFREE	10487842		★☆☆☆☆ Found in Text Mining only
NUT midline carcinoma	Carcinoma	BEFREE	26402248		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	12047721, 12507133, 17543079, 21835431, 31690408		★☆☆☆☆ Found in Text Mining only
Painful Bladder Syndrome	Interstitial cystitis	BEFREE	20140248		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29170413		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	8406438		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	29501297, 30570883		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	30570883	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10964942, 11044753, 30738909, 30993592		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	30738909		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	30342962		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	10657486, 7723281		★☆☆☆☆ Found in Text Mining only
Pineal Gland Neoplasm	Pineal Gland Neoplasm	BEFREE	12701886, 20418777		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	10487842		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16731743, 26624980, 29245927		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32692871, 36572885	Associate	★☆☆☆☆ Found in Text Mining only
Prune Belly Syndrome	Prune belly syndrome	BEFREE	20140248		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	28528011, 30361451		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	12210830		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	21762516		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	21762516	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	30285997, 33719644	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10089007, 10755070, 22348818, 25315318, 29511299, 7477874		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	11483314		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	15694236		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senile Plaques	Senile Plaques	BEFREE	27098516		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29176858, 29717520		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	19228643, 21762516, 23530560, 26482608, 28285684, 29566943, 29763719, 29787820, 29937242, 30045295, 30746237		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	28285684, 30045295, 31161851, 35402616, 37011997	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17724707		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30914778, 31786484		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	29250826		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	22055401		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	Pubtator	33025460	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	3103452, 33485291	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37082801	Stimulate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	34904712	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	29763719		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	31732726		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	27932203, 28566000, 28669028, 29098663		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	12047721, 12507133, 17543079, 21835431, 31690408		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	8104859		★☆☆☆☆ Found in Text Mining only
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations