DDC (dopa decarboxylase)

Gene

• Entrez ID: 1644
• Gene name: Dopa decarboxylase
• Gene symbol: DDC
• Synonyms (NCBI Gene): AADC
• Chromosome: 7
• Chromosome location: 7p12.2-p12.1
• Summary: The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11575290	G>A,T	Conflicting-interpretations-of-pathogenicity, benign	Genic upstream transcript variant, coding sequence variant, synonymous variant, missense variant
rs137853208	G>A	Pathogenic	Missense variant, coding sequence variant
rs137853209	A>G	Pathogenic	Missense variant, coding sequence variant
rs137853210	T>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137853212	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs142110773	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs201951824	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs771317809	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs779659084	G>A,C	Likely-pathogenic	Intron variant
rs971183744	C>G,T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1085307991	A>G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1276093487	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554411234	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1585237892	C>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT437834	hsa-miR-145-5p	qRT-PCR, Western blot	25445287
MIRT928809	hsa-miR-1261	CLIP-seq
MIRT928810	hsa-miR-1270	CLIP-seq
MIRT928811	hsa-miR-3617	CLIP-seq
MIRT928812	hsa-miR-4434	CLIP-seq
MIRT928813	hsa-miR-4516	CLIP-seq
MIRT928814	hsa-miR-4531	CLIP-seq
MIRT928815	hsa-miR-4782-5p	CLIP-seq
MIRT928816	hsa-miR-620	CLIP-seq
MIRT928817	hsa-miR-641	CLIP-seq
MIRT2210476	hsa-miR-1184	CLIP-seq
MIRT2210477	hsa-miR-1205	CLIP-seq
MIRT2210478	hsa-miR-3158-5p	CLIP-seq
MIRT2210479	hsa-miR-4734	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
POU3F2	Unknown	9602135
POU5F1	Unknown	9602135

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0004058	Function	Aromatic-L-amino-acid decarboxylase activity	IBA
GO:0004058	Function	Aromatic-L-amino-acid decarboxylase activity	IDA	16338639
GO:0004058	Function	Aromatic-L-amino-acid decarboxylase activity	IEA
GO:0004058	Function	Aromatic-L-amino-acid decarboxylase activity	TAS	7567987
GO:0005515	Function	Protein binding	IPI	12864730, 19703902
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006520	Process	Amino acid metabolic process	IEA
GO:0006584	Process	Catecholamine metabolic process	IBA
GO:0009636	Process	Response to toxic substance	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016830	Function	Carbon-carbon lyase activity	IEA
GO:0016831	Function	Carboxy-lyase activity	IEA
GO:0019752	Process	Carboxylic acid metabolic process	IEA
GO:0019899	Function	Enzyme binding	IPI	19703902
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0036467	Function	5-hydroxy-L-tryptophan decarboxylase activity	IDA	16338639
GO:0036467	Function	5-hydroxy-L-tryptophan decarboxylase activity	IEA
GO:0036468	Function	L-dopa decarboxylase activity	IDA	19703902
GO:0036468	Function	L-dopa decarboxylase activity	IEA
GO:0042401	Process	Biogenic amine biosynthetic process	IEA
GO:0042416	Process	Dopamine biosynthetic process	IDA	19703902
GO:0042416	Process	Dopamine biosynthetic process	IEA
GO:0042423	Process	Catecholamine biosynthetic process	IEA
GO:0042427	Process	Serotonin biosynthetic process	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867

Other IDs

• MIM: 107930
• HGNC: 2719
• e!Ensembl: ENSG00000132437

Protein

• UniProt ID: P20711
• Protein name: Aromatic-L-amino-acid decarboxylase (AADC) (EC 4.1.1.28) (DOPA decarboxylase) (DDC)
• Protein function: Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine and L-5-hydroxytryptophan to serotonin.
• PDB: 3RBF, 3RBL, 3RCH, 8OR9, 8ORA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00282	Pyridoxal_deC	35 → 414	Pyridoxal-dependent decarboxylase conserved domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 2]: High expression in kidney. {ECO:0000269|PubMed:15532536}.
• Sequence:

  MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDV
  EKIIMPGVTHWHSPYFFAYFPTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMD
  WLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIM
  EKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV
  ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFN
  PHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSL
  KMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVN
  EALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
  

• Sequence length: 480

Pathways

KEGG:

Tyrosine metabolism
Phenylalanine metabolism
Tryptophan metabolism
Metabolic pathways
Serotonergic synapse
Dopaminergic synapse
Cocaine addiction
Amphetamine addiction
Alcoholism

Reactome:

Catecholamine biosynthesis
Serotonin and melatonin biosynthesis

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
Deficiency of aromatic-L-amino-acid decarboxylase	Likely pathogenic; Pathogenic	rs376647978, rs2042728719, rs1209062363, rs138828136, rs768596169, rs777956037, rs760629324, rs542063660, rs2042497215, rs2044130662, rs748439275, rs777681757, rs931702374, rs915727399, rs1364054304, rs773004040, rs2044715580, rs1344017069, rs755511752, rs2153545926, rs1450673278, rs2153550461, rs2044127544, rs755511614, rs935725316, rs2153536214, rs2044722637, rs775312348, rs11575542, rs2044094510, rs779932163, rs200339845, rs201951824, rs2534986453, rs2535060477, rs764694805, rs2535407087, rs1562980610, rs780542462, rs2535193057, rs2535229295, rs767329849, rs1306265578, rs2535472743, rs1289397237, rs886062374, rs2043195305, rs2043190798, rs137853207, rs137853208, rs137853209, rs137853210, rs137853211, rs137853212, rs1363559666, rs2534986935, rs771317809, rs1554411234, rs142110773, rs1276093487, rs779659084, rs1585237892, rs200362242, rs2044098060, rs1237793828, rs1285477390, rs746244631, rs2042419194	RCV001316040 RCV001329408 RCV003518758 RCV001336994 RCV001339870 RCV001366716 RCV001380419 RCV001380420 RCV001387196 RCV001389547 RCV001780918 RCV003838905 RCV001780920 RCV001998531 RCV001893818 RCV001871291 RCV001896867 RCV001877820 RCV001880729 RCV001960034 RCV002023837 RCV001863286 RCV001887972 RCV005095753 RCV002223079 RCV002243540 RCV002471920 RCV002471921 RCV003037226 RCV003037228 RCV003060113 RCV002625673 RCV000184027 RCV002875726 RCV002881167 RCV002903483 RCV002872415 RCV003123405 RCV003337943 RCV003518173 RCV003516650 RCV003518757 RCV003516726 RCV003631931 RCV003632152 RCV003632575 RCV000279143 RCV003824861 RCV003860612 RCV003877192 RCV000019387 RCV000019388 RCV000019389 RCV000019390 RCV000019391 RCV000019392 RCV004595868 RCV004595869 RCV000578157 RCV000578194 RCV000677176 RCV000705586 RCV000985167 RCV000987869 RCV001071116 RCV001199140 RCV001212125 RCV001250057 RCV001250058 RCV001255133	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RASopathy	Likely pathogenic; Pathogenic	rs542063660	RCV004545219	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DDC-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOSTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PHEOCHROMOCYTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28768142		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	10634424		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	14760382, 17549667, 23064786		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	20424616, 23083099		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	1445888		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28768142		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37925455	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	9880081		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	20092830		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	20092830		★☆☆☆☆ Found in Text Mining only
Aromatic amino acid decarboxylase deficiency	Aromatic amino acid decarboxylase deficiency	BEFREE	17533144, 27371992, 27658936, 28973165, 29356298, 30144970, 30260058, 30952622		★☆☆☆☆ Found in Text Mining only
Aromatic amino acid decarboxylase deficiency	Aromatic amino acid decarboxylase deficiency	ORPHANET_DG	21541720, 24865461		★☆☆☆☆ Found in Text Mining only
Aromatic amino acid decarboxylase deficiency	Aromatic amino acid decarboxylase deficiency	GENOMICS_ENGLAND_DG	24816252		★☆☆☆☆ Found in Text Mining only
Aromatic amino acid decarboxylase deficiency	Aromatic amino acid decarboxylase deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Aromatic L-amino acid decarboxylase deficiency	Aromatic amino acid decarboxylase deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	24163823	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	11443526, 12555230, 17938636, 28097908		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	11992572, 22397633, 26337060		★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	37803205	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Juvenile Parkinson Disease	Parkinson Disease	CTD_human_DG	16269145		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	CTD_human_DG	16269145		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	CTD_human_DG	16269145		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	19651633		★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	CTD_human_DG	2969953		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	10578236, 10889538, 12555230, 8750358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	10578236, 10889538, 12555230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	25017620		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31450593		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33334070	Associate	★☆☆☆☆ Found in Text Mining only
C-cell hyperplasia of thyroid	Thyroid Hyperplasia	BEFREE	115572		★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	16517981	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	9880081	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23083099	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	31015890		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	30799092		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28768142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis	Cholangitis	BEFREE	27965154		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	BEFREE	23207146		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Classical Lissencephaly	Lissencephaly	BEFREE	29338612		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26924680	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27965154		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	20424616, 23083099	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20424616	Associate	★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	19455600, 19772578		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	LHGDN	16403819		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25721989		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	35151267	Associate	★☆☆☆☆ Found in Text Mining only
Deficiency of aromatic-L-amino-acid decarboxylase	Deficiency Of Aromatic-L-Amino-Acid Decarboxylase	UNIPROT_DG	14991824, 15079002		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deficiency of aromatic-L-amino-acid decarboxylase	Deficiency Of Aromatic-L-Amino-Acid Decarboxylase	CLINVAR_DG	15079002, 17240182, 20505134		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deficiency of aromatic-L-amino-acid decarboxylase	Deficiency Of Aromatic-L-Amino-Acid Decarboxylase	BEFREE	17533144, 27371992, 27658936, 28973165, 29356298, 30144970, 30260058, 30952622		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deficiency of aromatic-L-amino-acid decarboxylase	Deficiency Of Aromatic-L-Amino-Acid Decarboxylase	GENOMICS_ENGLAND_DG	19172410, 20505134, 24816252, 27830117		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deficiency of aromatic-L-amino-acid decarboxylase	Deficiency Of Aromatic-L-Amino-Acid Decarboxylase	ORPHANET_DG	21541720, 24865461		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental Disabilities	Developmental disability	Pubtator	36427457	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37803205	Stimulate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	36054588, 36427457	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31811476		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36805217, 37872211	Associate	★☆☆☆☆ Found in Text Mining only
Familial Juvenile Parkinsonism	Parkinsonian disease	CTD_human_DG	16269145		★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	BEFREE	115572		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	25290169		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	37457714	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	19172410		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	29851841	Associate	★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	19828868	Associate	★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	BEFREE	31222759		★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	19828868	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22465358		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	10578236, 12555230		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	10578236, 12555230, 8750358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	PSYGENET_DG	10578236, 12555230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	10578236, 12555230		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	10578236, 12555230		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	10578236, 12555230		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	10578236, 12555230		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	10578236, 12555230		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	20092830		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	31450593		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22571720, 23083099, 28100850		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	14760382		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10393831, 23328075, 28527622, 29655991, 30031402, 30417785		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31450593		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28100850		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	CTD_human_DG	2969953		★☆☆☆☆ Found in Text Mining only
Mental Disorders, Severe	Mental Disorders	CTD_human_DG	2969953		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	19455600, 19772578		★☆☆☆☆ Found in Text Mining only
Miosis disorder	Miosis Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	12116187		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	BEFREE	20092830		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	PSYGENET_DG	20092830		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	31348082		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	37803205	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12893186, 15998737, 17549667, 23064786, 23083099, 28100850, 28139036, 29766245, 29891208, 3479249		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	10393831, 18980998, 19460840, 26959748, 31432180	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	15322424, 18814238		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18814238, 20403077, 20664939, 23417100, 25851249, 26959748		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	29875288		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	25290169		★☆☆☆☆ Found in Text Mining only
Paranoid Schizophrenia	Paranoid Schizophrenia	BEFREE	15318031		★☆☆☆☆ Found in Text Mining only
Paranoid Schizophrenia	Paranoid Schizophrenia	LHGDN	15318031		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10945765, 16407771, 17982884, 18401019, 19231266, 19828868, 20606642, 20871425, 22093536, 22424171, 23331189, 24216088, 28166239, 28279081, 28322896, 28526609, 28682929, 29080800, 29082547, 29200295, 29614697, 30663606, 30802998, 31450593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	11445284, 2969953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	19703902, 19828868, 20606642, 22424171, 30802998, 32149427, 34649873	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	CTD_human_DG	16269145		★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	36054588, 37466248	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	CTD_human_DG	16269145		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	BEFREE	28973165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonism, Juvenile	Parkinsonian disease	CTD_human_DG	16269145		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	14760382	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	1445888		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma	Pheochromocytoma	CTD_human_DG	22569243		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	CTD_human_DG	22569243		★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	30608907		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GWASDB_DG	19684603, 23512250		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GWASCAT_DG	22076464		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	23207146		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22571720, 23083099, 28100850		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17553164, 17581945, 23083099	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18586020		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	25073638		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ramsay Hunt Paralysis Syndrome	Ramsay Hunt Paralysis Syndrome	CTD_human_DG	16269145		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25721989		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	12514746		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10889538, 11673800, 15318031, 17948905, 9387886		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	2555051, 2838297, 3030544, 31691490, 9880081		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	31691490	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23083099		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23083099	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23083099		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	14760382		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	14760382	Associate	★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	28751068		★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	BEFREE	23083099		★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	23083099	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	20092830		★★☆☆☆ Found in Text Mining + Unknown/Other Associations