ERC2 (ELKS/RAB6-interacting/CAST family member 2)

Gene

• Entrez ID: 26059
• Gene name: ELKS/RAB6-interacting/CAST family member 2
• Gene symbol: ERC2
• Synonyms (NCBI Gene): CAST, CAST1, ELKSL, SPBC110, Spc110
• Chromosome: 3
• Chromosome location: 3p14.3
• Summary: This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alt

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT968322	hsa-miR-1182	CLIP-seq
MIRT968323	hsa-miR-1208	CLIP-seq
MIRT968324	hsa-miR-1243	CLIP-seq
MIRT968325	hsa-miR-1538	CLIP-seq
MIRT968326	hsa-miR-297	CLIP-seq
MIRT968327	hsa-miR-299-5p	CLIP-seq
MIRT968328	hsa-miR-3125	CLIP-seq
MIRT968329	hsa-miR-3202	CLIP-seq
MIRT968330	hsa-miR-323-3p	CLIP-seq
MIRT968331	hsa-miR-34c-3p	CLIP-seq
MIRT968332	hsa-miR-361-5p	CLIP-seq
MIRT968333	hsa-miR-3654	CLIP-seq
MIRT968334	hsa-miR-380	CLIP-seq
MIRT968335	hsa-miR-3916	CLIP-seq
MIRT968336	hsa-miR-4257	CLIP-seq
MIRT968337	hsa-miR-4438	CLIP-seq
MIRT968338	hsa-miR-4495	CLIP-seq
MIRT968339	hsa-miR-4533	CLIP-seq
MIRT968340	hsa-miR-4659a-3p	CLIP-seq
MIRT968341	hsa-miR-4659b-3p	CLIP-seq
MIRT968342	hsa-miR-4731-3p	CLIP-seq
MIRT968343	hsa-miR-4745-3p	CLIP-seq
MIRT968344	hsa-miR-4747-3p	CLIP-seq
MIRT968345	hsa-miR-4801	CLIP-seq
MIRT968346	hsa-miR-5095	CLIP-seq
MIRT968347	hsa-miR-517b	CLIP-seq
MIRT968348	hsa-miR-539	CLIP-seq
MIRT968349	hsa-miR-548c-3p	CLIP-seq
MIRT968350	hsa-miR-567	CLIP-seq
MIRT968351	hsa-miR-587	CLIP-seq
MIRT968352	hsa-miR-659	CLIP-seq
MIRT968353	hsa-miR-9	CLIP-seq
MIRT1987027	hsa-miR-4307	CLIP-seq
MIRT1987028	hsa-miR-4728-3p	CLIP-seq
MIRT968323	hsa-miR-1208	CLIP-seq
MIRT2221421	hsa-miR-1827	CLIP-seq
MIRT2221422	hsa-miR-2682	CLIP-seq
MIRT2221423	hsa-miR-3145-3p	CLIP-seq
MIRT2221424	hsa-miR-323b-5p	CLIP-seq
MIRT2221425	hsa-miR-329	CLIP-seq
MIRT2221426	hsa-miR-34a	CLIP-seq
MIRT2221427	hsa-miR-34c-5p	CLIP-seq
MIRT2221428	hsa-miR-3612	CLIP-seq
MIRT2221429	hsa-miR-362-3p	CLIP-seq
MIRT2221430	hsa-miR-3661	CLIP-seq
MIRT2221431	hsa-miR-3919	CLIP-seq
MIRT2221432	hsa-miR-4266	CLIP-seq
MIRT2221433	hsa-miR-449a	CLIP-seq
MIRT2221434	hsa-miR-449b	CLIP-seq
MIRT2221435	hsa-miR-449c	CLIP-seq
MIRT2221436	hsa-miR-4695-5p	CLIP-seq
MIRT2221437	hsa-miR-4716-5p	CLIP-seq
MIRT2221438	hsa-miR-4756-3p	CLIP-seq
MIRT2221439	hsa-miR-4779	CLIP-seq
MIRT2221440	hsa-miR-631	CLIP-seq
MIRT2221441	hsa-miR-650	CLIP-seq
MIRT2525059	hsa-miR-128	CLIP-seq
MIRT2525060	hsa-miR-27a	CLIP-seq
MIRT2525061	hsa-miR-27b	CLIP-seq
MIRT2525062	hsa-miR-499-3p	CLIP-seq
MIRT2525063	hsa-miR-499a-3p	CLIP-seq
MIRT2680244	hsa-miR-181a	CLIP-seq
MIRT2680245	hsa-miR-181b	CLIP-seq
MIRT2680246	hsa-miR-181c	CLIP-seq
MIRT2680247	hsa-miR-181d	CLIP-seq
MIRT2680248	hsa-miR-23a	CLIP-seq
MIRT2680249	hsa-miR-23b	CLIP-seq
MIRT2680250	hsa-miR-23c	CLIP-seq
MIRT2680251	hsa-miR-365	CLIP-seq
MIRT2680252	hsa-miR-4262	CLIP-seq
MIRT1987027	hsa-miR-4307	CLIP-seq
MIRT2680253	hsa-miR-4698	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12923177, 20195357
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0016082	Process	Synaptic vesicle priming	IEA
GO:0030426	Component	Growth cone	ISS
GO:0042734	Component	Presynaptic membrane	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0048786	Component	Presynaptic active zone	IEA
GO:0048786	Component	Presynaptic active zone	TAS	15217342
GO:0048790	Process	Maintenance of presynaptic active zone structure	IBA
GO:0098793	Component	Presynapse	IEA
GO:0098831	Component	Presynaptic active zone cytoplasmic component	IBA
GO:0098831	Component	Presynaptic active zone cytoplasmic component	IEA
GO:0098882	Function	Structural constituent of presynaptic active zone	IBA
GO:0098882	Function	Structural constituent of presynaptic active zone	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099509	Process	Regulation of presynaptic cytosolic calcium ion concentration	IEA
GO:0150037	Process	Regulation of calcium-dependent activation of synaptic vesicle fusion	IEA

Other IDs

• MIM: 617250
• HGNC: 31922
• e!Ensembl: ENSG00000187672

Protein

• UniProt ID: O15083
• Protein name: ERC protein 2
• Protein function: Thought to be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. Seems to act together with BSN. May recruit liprin-alpha proteins to the CAZ.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10174	Cast	150 → 911	RIM-binding protein of the cytomatrix active zone	Coiled-coil

• Sequence:

  MYGSARTITNLEGSPSRSPRLPRSPRLGHRRTSSGGGGGTGKTLSMENIQSLNAAYATSG
  PMYLSDHEGVASTTYPKGTMTLGRATNRAVYGGRVTAMGSSPNIASAGLSHTDVLSYTDQ
  HGGLTGSSHHHHHQVPSMLRQVRDSTMLDLQAQLKELQRENDLLRKELDIKDSKLGSSMN
  SIKTFWSPELKKERVLRKEEAARMSVLKEQMRVSHEENQHLQLTIQALQDELRTQRDLNH
  LLQQESGNRGAEHFTIELTEENFRRLQAEHDRQAKELFLLRKTLEEMELRIETQKQTLNA
  RDESIKKLLEMLQSKGLPSKSLEDDNERTRRMAEAESQVSHLEVILDQKEKENIHLREEL
  HRRSQLQPEPAKTKALQTVIEMKDTKIASLERNIRDLEDEIQMLKANGVLNTEDREEEIK
  QIEVYKSHSKFMKTKIDQLKQELSKKESELLALQTKLETLSNQNSDCKQHIEVLKESLTA
  KEQRAAILQTEVDALRLRLEEKESFLNKKTKQLQDLTEEKGTLAGEIRDMKDMLEVKERK
  INVLQKKIENLQEQLRDKDKQLTNLKDRVKSLQTDSSNTDTALATLEEALSEKERIIERL
  KEQRERDDRERLEEIESFRKENKDLKEKVNALQAELTEKESSLIDLKEHASSLASAGLKR
  DSKLKSLEIAIEQKKEECSKLEAQLKKAHNIEDDSRMNPEFADQIKQLDKEASYYRDECG
  KAQAEVDRLLEILKEVENEKNDKDKKIAELESLTLRHMKDQNKKVANLKHNQQLEKKKNA
  QLLEEVRRREDSMADNSQHLQIEELMNALEKTRQELDATKARLASTQQSLAEKEAHLANL
  RIERRKQLEEILEMKQEALLAAISEKDANIALLELSASKKKKTQEEVMALKREKDRLVHQ
  LKQQTQNRMKLMADNYDDDHHHYHHHHHHHHHRSPGRSQHSNHRPSPDQDDEEGIWA

• Sequence length: 957

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	15466976		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28932544		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24200051	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16566922, 26756888		★☆☆☆☆ Found in Text Mining only
Angular cheilitis	Angular cheilitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASDB_DG	20062062		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28287798		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28287798		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	12730086, 28758430		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	15654835, 17324966, 22046434, 7706496	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	12730086, 28758430		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30027417		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	21424381	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21531560, 22753709		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21531560, 23684705, 27323818	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24504440	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	27456359		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24504440	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	27456359	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	12576481	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29289695		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	23986533		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	15466976		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15466976		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	15963350		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	12367559		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	17339346		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	14612448	Stimulate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	21983488, 23785472		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	21983488	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	10600505		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	7638179		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25944670		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	28237317		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29581866, 8512320		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31262726, 39684695	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29581866, 8512320		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30504225	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	22095979		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	15963350		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29355642		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	12727230		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16843603, 17137217, 26248159, 26974350		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29289695		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	23986533		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	23449483, 29428799		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	23449483, 39186261	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	BEFREE	25683118		★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	Pubtator	25683118	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	27456359	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	2462432	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27294874	Associate	★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	23390575		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27923747, 28469577		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	7706496	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	CTD_human_DG	16871587		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28469577		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	12367559		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	12367559		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12367559, 7638179		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	12367559		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	22843411, 24817574		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Glioma	Glioma	BEFREE	10494025		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21531560, 22753709		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	27456359		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22435971		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27487486		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28927135		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29581866		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23584600, 30131853, 31425704		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	26756888		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	17765980	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	21075457		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	27294874		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	27294874	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25786109, 30416776		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28512118		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23530572, 25648699, 28512118, 29599325		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	22095979		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	20127884		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22288381, 29944913, 31638167		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	7957886	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21338355, 23305291		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22969001, 29089532		★☆☆☆☆ Found in Text Mining only
Onycholysis	Onycholysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	31502361		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	BEFREE	28978574		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30448882	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27487486		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23140395	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	19365859, 20127884		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	19365859, 20127884, 23875735, 23951044	Associate	★☆☆☆☆ Found in Text Mining only
Peeling Skin Syndrome	Peeling skin syndrome	Pubtator	30032785	Associate	★☆☆☆☆ Found in Text Mining only
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS	Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	BEFREE	25683118, 31392520		★☆☆☆☆ Found in Text Mining only
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS	Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	GENOMICS_ENGLAND_DG	25683118		★☆☆☆☆ Found in Text Mining only
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS	Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	ORPHANET_DG	25683118		★☆☆☆☆ Found in Text Mining only
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS	Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS	Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome	Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Orphanet			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GWASCAT_DG	28090653		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	15654835	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASDB_DG	20953190		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	20953190, 25574825		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	20846163		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	25648699		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10600505, 12367559, 22046434, 7638179, 7706496, 9851263		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	35563428	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures Febrile	Seizures	Pubtator	35022648	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	27287430		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	31593747		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	27456359		★☆☆☆☆ Found in Text Mining only
Splenic Neoplasms	Splenic Neoplasms	BEFREE	28808241		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28927135		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24589339, 35625600	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30337208		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	7638179		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	31156179		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35462469	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	12367559		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	17213309		★☆☆☆☆ Found in Text Mining only
Xerocytosis	Xerocytosis	BEFREE	31091145		★☆☆☆☆ Found in Text Mining only
Zimmerman Laband syndrome	Zimmerman Laband Syndrome	BEFREE	17163523		★☆☆☆☆ Found in Text Mining only