ADSL (adenylosuccinate lyase)

Gene

• Entrez ID: 158
• Gene name: Adenylosuccinate lyase
• Gene symbol: ADSL
• Synonyms (NCBI Gene): AMPS, ASASE, ASL
• Chromosome: 22
• Chromosome location: 22q13.1
• Summary: The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carbox

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28941471	G>A	Uncertain-significance, likely-pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs34396910	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs119450940	T>C	Pathogenic	Intron variant, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs119450941	G>A	Pathogenic, likely-pathogenic	Intron variant, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs119450942	C>G	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs119450944	A>G	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs119450945	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs143083947	C>A,G,T	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs143275316	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs143977255	A>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, synonymous variant
rs148411623	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs181628906	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Intron variant, genic upstream transcript variant
rs199993991	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Intron variant, genic upstream transcript variant
rs200814886	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs201509960	T>C	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs202064195	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs372895468	C>G,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs373458753	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs374259530	T>C	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs750614500	C>T	Pathogenic	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs751928831	G>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs756210458	C>G,T	Pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, missense variant
rs761493155	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs761551284	G>T	Likely-pathogenic	Intron variant, genic upstream transcript variant, splice donor variant
rs763542069	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs771121666	T>C	Uncertain-significance, pathogenic-likely-pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, missense variant, coding sequence variant
rs776496275	G>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs777821034	T>C	Pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, missense variant, coding sequence variant
rs796052244	G>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs796052246	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs796052247	G>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs796052248	C>T	Pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, missense variant, coding sequence variant
rs879257322	C>A,T	Likely-pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs1036185928	C>T	Likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs1057521071	C>G	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs1057521795	T>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs1555903969	G>T	Pathogenic, uncertain-significance	Genic upstream transcript variant, intron variant, splice donor variant
rs1555908924	C>T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1569096551	C>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant
rs1601552154	G>A	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1601586359	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1601596522	CAT>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052539	hsa-let-7a-5p	CLASH	23622248
MIRT038883	hsa-miR-93-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004018	Function	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IBA
GO:0004018	Function	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IDA	10888601
GO:0004018	Function	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IDA	10888601, 16973378, 19405474
GO:0004018	Function	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006164	Process	Purine nucleotide biosynthetic process	IC	10888601
GO:0006164	Process	Purine nucleotide biosynthetic process	IEA
GO:0006167	Process	AMP biosynthetic process	IDA	11428554
GO:0006167	Process	AMP biosynthetic process	IEA
GO:0006177	Process	GMP biosynthetic process	IEA
GO:0006189	Process	'de novo' IMP biosynthetic process	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0009060	Process	Aerobic respiration	IEA
GO:0009152	Process	Purine ribonucleotide biosynthetic process	IEA
GO:0014850	Process	Response to muscle activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0032991	Component	Protein-containing complex	IDA	16973378
GO:0042594	Process	Response to starvation	IEA
GO:0042802	Function	Identical protein binding	IDA	16973378
GO:0042802	Function	Identical protein binding	IEA
GO:0044208	Process	'de novo' AMP biosynthetic process	IBA
GO:0044208	Process	'de novo' AMP biosynthetic process	IEA
GO:0044209	Process	AMP salvage	IEA
GO:0070626	Function	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity	IBA
GO:0070626	Function	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity	IDA	27590927
GO:0070626	Function	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity	IEA
GO:0097294	Process	'de novo' XMP biosynthetic process	IEA

Other IDs

• MIM: 608222
• HGNC: 291
• e!Ensembl: ENSG00000239900

Protein

• UniProt ID: P30566
• Protein name: Adenylosuccinate lyase (ADSL) (ASL) (EC 4.3.2.2) (Adenylosuccinase) (ASase)
• Protein function: Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also cont
• PDB: 2J91, 2VD6, 4FFX, 4FLC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00206	Lyase_1	24 → 313	Lyase	Domain
  PF10397	ADSL_C	378 → 460	Adenylosuccinate lyase C-terminus	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1.
• Sequence:

  MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDE
  QIQEMKSNLENIDFKMAAEEEKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTD
  LIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLWIQDLC
  MDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG
  QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMR
  SERCCSLARHLMTLVMDPLQTASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISE
  GLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCHEKIRVLSQQAASVVKQEGGD
  NDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKA
  ELCL

• Sequence length: 484

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
Adenylosuccinate lyase deficiency	Likely pathogenic; Pathogenic	rs1035500320, rs1268082439, rs746501563, rs2044777708, rs1569099793, rs2146667709, rs2146634231, rs747964752, rs1275901345, rs2146622848, rs370851726, rs1410270058, rs2146658733, rs1268264761, rs1193437955, rs779612414, rs775671027, rs773404017, rs119450940, rs119450941, rs119450942, rs119450943, rs28941471, rs119450944, rs119450945, rs780482118, rs774729848, rs546878201, rs374259530, rs756210458, rs750614500, rs202064195, rs761493155, rs763542069, rs554254383, rs796052252, rs372895468, rs776496275, rs2518100114, rs572438339, rs1341872544, rs373458753, rs2044946255, rs2518130804, rs1404801471, rs2518096229, rs1036185928, rs749817666, rs1569096551, rs879257322, rs761551284, rs1601586359, rs1601596522, rs1601552154, rs2044792794, rs755492501, rs774435749, rs2044916556, rs1272053459, rs563054392	RCV001366584 RCV001383241 RCV001382689 RCV001384334 RCV001387368 RCV001382329 RCV001785896 RCV001950883 RCV002017498 RCV001923611 RCV001971171 RCV002037760 RCV001942110 RCV002030152 RCV001956156 RCV001918325 RCV002010963 RCV003603114 RCV000002565 RCV000002566 RCV000002567 RCV000002568 RCV000002569 RCV000002570 RCV000002572 RCV003064660 RCV003072072 RCV002675827 RCV002726026 RCV000193076 RCV001049471 RCV000763484 RCV000278336 RCV001209833 RCV000779373 RCV001971049 RCV001036968 RCV001781543 RCV000990447 RCV002847106 RCV003007416 RCV003236504 RCV000293106 RCV003499624 RCV003498364 RCV003603277 RCV003604977 RCV000679862 RCV000465601 RCV000707388 RCV002536581 RCV000810236 RCV000990446 RCV000990448 RCV000995690 RCV001050339 RCV001039703 RCV001220597 RCV001203918 RCV001202658 RCV002221270 RCV001300027	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADSL-related disorder	Likely pathogenic; Pathogenic	rs119450944, rs374259530, rs750614500, rs774435749	RCV003398421 RCV004755797 RCV003390914 RCV004756193	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Difficulty standing	Pathogenic; Likely pathogenic	rs374259530, rs756210458	RCV000415212 RCV000415081	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized myoclonic seizure	Pathogenic; Likely pathogenic	rs374259530, rs756210458	RCV000415212 RCV000415081	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inability to walk	Pathogenic; Likely pathogenic	rs374259530, rs756210458	RCV000415212 RCV000415081	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive neurologic deterioration	Pathogenic; Likely pathogenic	rs374259530, rs756210458	RCV000415212 RCV000415081	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe global developmental delay	Pathogenic; Likely pathogenic	rs374259530, rs756210458	RCV000415212 RCV000415081	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ 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
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenosine deaminase deficiency	Adenosine Deaminase Deficiency	BEFREE	24972650		★☆☆☆☆ Found in Text Mining only
Adenylosuccinate lyase deficiency	Adenylosuccinate lyase deficiency	Pubtator	12016589, 19405474	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenylosuccinate lyase deficiency	Adenylosuccinate lyase deficiency	Pubtator	12016589, 12876319, 15471876, 18830228, 22812634, 28487569, 33648541	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenylosuccinate lyase deficiency	Adenylosuccinate Lyase Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenylosuccinate lyase deficiency	Adenylosuccinate lyase deficiency	Pubtator	36271826	Stimulate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenylosuccinate lyase deficiency (disorder)	Adenylosuccinate Lyase Deficiency	BEFREE	10090474, 12016589, 15571235, 20884265, 22180458, 22812634, 25112391, 27440870, 28487569		★☆☆☆☆ Found in Text Mining only
Adenylosuccinate lyase deficiency (disorder)	Adenylosuccinate Lyase Deficiency	UNIPROT_DG	10090474, 10888601, 10958654, 12368987, 12833398, 1302001, 19405474, 22812634, 9266401, 9545543		★☆☆☆☆ Found in Text Mining only
Adenylosuccinate lyase deficiency (disorder)	Adenylosuccinate Lyase Deficiency	CLINVAR_DG	10090474, 10888601, 10958654, 12368987, 12833398, 16839792, 17188615, 18524658, 19405474, 20127976, 20175147, 20933180, 21210713, 22180458, 22812634, 23504561, 23714113, 25112391, 27504266		★☆☆☆☆ Found in Text Mining only
Adenylosuccinate lyase deficiency (disorder)	Adenylosuccinate Lyase Deficiency	CTD_human_DG	10888601, 10958654, 12833398		★☆☆☆☆ Found in Text Mining only
Adenylosuccinate lyase deficiency (disorder)	Adenylosuccinate Lyase Deficiency	ORPHANET_DG	18524658		★☆☆☆☆ Found in Text Mining only
Adenylosuccinate lyase deficiency (disorder)	Adenylosuccinate Lyase Deficiency	GENOMICS_ENGLAND_DG	9545543		★☆☆☆☆ Found in Text Mining only
Adenylosuccinate lyase deficiency type 1	Adenylosuccinate Lyase Deficiency	CTD_human_DG	10888601, 10958654, 12833398		★☆☆☆☆ Found in Text Mining only
Adenylosuccinate lyase deficiency type 2	Adenylosuccinate Lyase Deficiency	CTD_human_DG	10888601, 10958654, 12833398		★☆☆☆☆ Found in Text Mining only
Adenylosuccinate lyase deficiency type 3	Adenylosuccinate Lyase Deficiency	CTD_human_DG	10888601, 10958654, 12833398		★☆☆☆☆ Found in Text Mining only
Adenylosuccinate lyase deficiency type 4	Adenylosuccinate Lyase Deficiency	CTD_human_DG	10888601, 10958654, 12833398		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	15471876	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	10673438, 12016589, 15471876	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	15471876, 2804136, 8825895		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	15471876		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29467457	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31729379, 33754045	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	29467457	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	29467457		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33754045	Associate	★☆☆☆☆ Found in Text Mining only
Combined molybdoflavoprotein enzyme deficiency	Combined molybdoflavoprotein enzyme deficiency	BEFREE	24972650		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28238815		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	1302001		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	15471876	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29467457		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29467457	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	12016589	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29467457		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29467457	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	10090474, 31516833		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	20884265, 23055421		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	10673438, 12016589, 19405474	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	1302001		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30240446, 31012492		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29467457		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29467457		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29467457		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37976135	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	1302001		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	21210713		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33754045	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	16403972		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	30240446		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phosphoribosylpyrophosphate Synthetase Superactivity	Phosphoribosylpyrophosphate Synthetase Superactivity	BEFREE	24972650		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28238815		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29467457		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	9545543	Associate	★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency disease	BEFREE	24972650		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31729379		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31729379	Associate	★☆☆☆☆ Found in Text Mining only