DPP6 (dipeptidyl peptidase like 6)

Gene

• Entrez ID: 1804
• Gene name: Dipeptidyl peptidase like 6
• Gene symbol: DPP6
• Synonyms (NCBI Gene): DPL1, DPPX, MRD33, VF2
• Chromosome: 7
• Chromosome location: 7q36.2
• Summary: This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6977820	T>A,C	Drug-response	Genic upstream transcript variant, intron variant
rs572667303	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant, coding sequence variant, missense variant
rs606231226	C>T	Pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant
rs786205143	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT496681	hsa-miR-497-3p	HITS-CLIP	23313552
MIRT496681	hsa-miR-497-3p	PAR-CLIP	22291592
MIRT449362	hsa-miR-513b-3p	PAR-CLIP	22291592
MIRT449363	hsa-miR-1276	PAR-CLIP	22100165
MIRT449362	hsa-miR-513b-3p	PAR-CLIP	22100165
MIRT449360	hsa-miR-4668-5p	PAR-CLIP	22100165
MIRT449361	hsa-miR-3153	PAR-CLIP	22100165
MIRT449359	hsa-miR-6733-5p	PAR-CLIP	22100165
MIRT449358	hsa-miR-6739-5p	PAR-CLIP	22100165
MIRT496681	hsa-miR-497-3p	HITS-CLIP	27418678
MIRT496681	hsa-miR-497-3p	HITS-CLIP	27418678
MIRT496681	hsa-miR-497-3p	HITS-CLIP	23313552
MIRT496681	hsa-miR-497-3p	PAR-CLIP	22291592
MIRT449362	hsa-miR-513b-3p	PAR-CLIP	22291592
MIRT449363	hsa-miR-1276	PAR-CLIP	22100165
MIRT449362	hsa-miR-513b-3p	PAR-CLIP	22100165
MIRT449360	hsa-miR-4668-5p	PAR-CLIP	22100165
MIRT449361	hsa-miR-3153	PAR-CLIP	22100165
MIRT449359	hsa-miR-6733-5p	PAR-CLIP	22100165
MIRT449358	hsa-miR-6739-5p	PAR-CLIP	22100165
MIRT944215	hsa-miR-3119	CLIP-seq
MIRT944216	hsa-miR-3180-5p	CLIP-seq
MIRT944217	hsa-miR-3674	CLIP-seq
MIRT944218	hsa-miR-520a-5p	CLIP-seq
MIRT944219	hsa-miR-525-5p	CLIP-seq
MIRT944220	hsa-miR-1470	CLIP-seq
MIRT944221	hsa-miR-3195	CLIP-seq
MIRT944222	hsa-miR-3197	CLIP-seq
MIRT944223	hsa-miR-3615	CLIP-seq
MIRT944224	hsa-miR-4695-5p	CLIP-seq
MIRT944225	hsa-miR-4749-3p	CLIP-seq
MIRT944226	hsa-miR-4750	CLIP-seq
MIRT944227	hsa-miR-765	CLIP-seq
MIRT944220	hsa-miR-1470	CLIP-seq
MIRT944225	hsa-miR-4749-3p	CLIP-seq
MIRT944220	hsa-miR-1470	CLIP-seq
MIRT944225	hsa-miR-4749-3p	CLIP-seq
MIRT944220	hsa-miR-1470	CLIP-seq
MIRT944225	hsa-miR-4749-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	10551270
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006508	Process	Proteolysis	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	18364354
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008239	Function	Dipeptidyl-peptidase activity	IDA	8103397
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0015459	Function	Potassium channel regulator activity	IDA	18364354
GO:0015459	Function	Potassium channel regulator activity	ISS
GO:0016020	Component	Membrane	IDA	18364354
GO:0016020	Component	Membrane	IEA
GO:0072659	Process	Protein localization to plasma membrane	ISS
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IBA
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IDA	18364354
GO:1901379	Process	Regulation of potassium ion transmembrane transport	ISS

Other IDs

• MIM: 126141
• HGNC: 3010
• e!Ensembl: ENSG00000130226

Protein

• UniProt ID: P42658
• Protein name: A-type potassium channel modulatory protein DPP6 (DPPX) (Dipeptidyl aminopeptidase-like protein 6) (Dipeptidyl aminopeptidase-related protein) (Dipeptidyl peptidase 6) (Dipeptidyl peptidase IV-like protein) (Dipeptidyl peptidase VI) (DPP VI)
• Protein function: Promotes cell surface expression of the potassium channel KCND2 (PubMed:15454437, PubMed:19441798). Modulates the activity and gating characteristics of the potassium channel KCND2 (PubMed:18364354). Has no dipeptidyl aminopeptidase activity (Pu
• PDB: 1XFD, 7E87, 7E89, 7E8B, 7E8E, 7E8G, 7E8H, 7UKG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00930	DPPIV_N	195 → 561	Dipeptidyl peptidase IV (DPP IV) N-terminal region	Family
  PF00326	Peptidase_S9	641 → 850	Prolyl oligopeptidase family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed predominantly in brain.
• Sequence:

  MASLYQRFTGKINTSRSFPAPPEASHLLGGQGPEEDGGAGAKPLGPRAQAAAPRERGGGG
  GGAGGRPRFQYQARSDGDEEDELVGSNPPQRNWKGIAIALLVILVICSLIVTSVILLTPA
  EDNSLSQKKKVTVEDLFSEDFKIHDPEAKWISDTEFIYREQKGTVRLWNVETNTSTVLIE
  GKKIESLRAIRYEISPDREYALFSYNVEPIYQHSYTGYYVLSKIPHGDPQSLDPPEVSNA
  KLQYAGWGPKGQQLIFIFENNIYYCAHVGKQAIRVVSTGKEGVIYNGLSDWLYEEEILKT
  HIAHWWSPDGTRLAYAAINDSRVPIMELPTYTGSIYPTVKPYHYPKAGSENPSISLHVIG
  LNGPTHDLEMMPPDDPRMREYYITMVKWATSTKVAVTWLNRAQNVSILTLCDATTGVCTK
  KHEDESEAWLHRQNEEPVFSKDGRKFFFIRAIPQGGRGKFYHITVSSSQPNSSNDNIQSI
  TSGDWDVTKILAYDEKGNKIYFLSTEDLPRRRQLYSANTVGNFNRQCLSCDLVENCTYFS
  ASFSHSMDFFLLKCEGPGVPMVTVHNTTDKKKMFDLETNEHVKKAINDRQMPKVEYRDIE
  IDDYNLPMQILKPATFTDTTHYPLLLVVDGTPGSQSVAEKFEVSWETVMVSSHGAVVVKC
  DGRGSGFQGTKLLHEVRRRLGLLEEKDQMEAVRTMLKEQYIDRTRVAVFGKDYGGYLSTY
  ILPAKGENQGQTFTCGSALSPITDFKLYASAFSERYLGLHGLDNRAYEMTKVAHRVSALE
  EQQFLIIHPTADEKIHFQHTAELITQLIRGKANYSLQIYPDESHYFTSSSLKQHLYRSII
  NFFVECFRIQDKLLTVTAKEDEEED

• Sequence length: 865

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, autosomal dominant 33	Pathogenic	rs786205143	RCV000169782	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventricular fibrillation, paroxysmal familial, 2	Pathogenic	rs606231226	RCV000018285	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT PRIMARY MICROCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrest	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Collapse (finding)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DPP6-related disorder	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIPLEGIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HP:0000729 Autistic spectrum disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 33	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL FAMILIAL VENTRICULAR FIBRILLATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL VENTRICULAR FIBRILLATION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIALOLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden cardiac death	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation, paroxysmal familial, type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alternating esotropia	Alternating esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26517091	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30874922	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	30874922		★☆☆☆☆ Found in Text Mining only
Amelogenesis imperfecta nephrocalcinosis	Amelogenesis Imperfecta	BEFREE	31476289		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	18084291, 19193627, 19525032, 20001489, 20685689, 22470424, 24154603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	18084291		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASDB_DG	18084291		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASCAT_DG	18084291		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	CTD_human_DG	18084291		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	22470424, 24154603, 31164693	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis With Dementia	Amyotrophic Lateral Sclerosis With Dementia	CTD_human_DG	18084291		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	CTD_human_DG	18084291		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	20001489, 20137488, 22795786		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	31476289, 36008935	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	36008935	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	26025128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	18252227, 32393163	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18252227, 20844286, 24643514, 25129042, 27651234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	18252227, 20844286		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	27759917		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	27759917	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant primary microcephaly	Microcephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia	Azoospermia	BEFREE	24937803		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32987560	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32701143	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31099194	Associate	★☆☆☆☆ Found in Text Mining only
Castleman Disease	Castleman disease	Pubtator	37839777	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26634245		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	31099194		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	37967257	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30874922		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	30874922	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27759917, 31475484	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	25129042		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25083881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	25083881	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eye Neoplasms	Eye neoplasms	Pubtator	32393163	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	30739198, 30874922	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	30874922		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	25129042		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32987560	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29474731		★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	10899153		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	21430528		★☆☆☆☆ Found in Text Mining only
Idiopathic ventricular fibrillation, non Brugada type	Idiopathic ventricular fibrillation	Orphanet			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23832105		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	23832105		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22479372	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22479372		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	GWASDB_DG	20686608		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	23832105		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33	Mental retardation	GENOMICS_ENGLAND_DG	23832105		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33	Mental retardation	UNIPROT_DG	23832105		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	23832105		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly autosomal dominant	Microcephaly	BEFREE	23832105		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly autosomal dominant	Microcephaly	ORPHANET_DG	23832105		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23069673		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29123178		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30874922	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27759917, 31475484		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	32393163	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	GWASCAT_DG	20686608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33253517	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal familial ventricular fibrillation	Paroxysmal ventricular fibrillation	BEFREE	19285295, 23532596, 26681609, 29474731, 30354299, 31476289		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal familial ventricular fibrillation	Paroxysmal ventricular fibrillation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	19285295, 31476289, 37967257	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelvic Organ Prolapse	Pelvic Organ Prolapse	GWASCAT_DG	26545240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	26545240	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pemphigus	Pemphigus	Pubtator	37839777	Associate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	30874922		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30874922		★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	23832105		★☆☆☆☆ Found in Text Mining only
Psychomotor Agitation	Psychiatric disorders	Pubtator	30874922	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	28878050		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36465624, 37372430	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37372430	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	26015324		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	26015324, 34757187	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular Fibrillation	BEFREE	19285295, 26681609, 29474731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular Fibrillation	ORPHANET_DG	19285295, 21512816		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular Fibrillation	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)