ASL (argininosuccinate lyase)

Gene

• Entrez ID: 435
• Gene name: Argininosuccinate lyase
• Gene symbol: ASL
• Synonyms (NCBI Gene): ASAL, ASLD
• Chromosome: 7
• Chromosome location: 7q11.21
• Summary: This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940286	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs28940287	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs28940585	C>T	Pathogenic	Missense variant, coding sequence variant
rs28941472	A>G	Pathogenic	Missense variant, coding sequence variant
rs28941473	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs142637046	G>A	Pathogenic	Splice donor variant
rs143508372	C>G,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs145138923	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs201523601	G>T	Likely-pathogenic	Splice donor variant
rs201962738	C>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs202142867	T>A,C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs367543005	C>T	Pathogenic	Coding sequence variant, stop gained
rs367543006	C>T	Pathogenic	Coding sequence variant, stop gained
rs369879957	C>T	Pathogenic	Coding sequence variant, stop gained
rs373697663	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, intron variant
rs374304304	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs398123126	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs398123127	G>A	Pathogenic, likely-pathogenic	Splice donor variant, intron variant
rs561367199	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs751590073	G>A	Pathogenic-likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs752100894	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs752783461	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs756363516	A>G	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs757109353	CT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs759396688	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs761651320	C>T	Pathogenic	Coding sequence variant, stop gained
rs763407938	TTAC>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs764356037	G>C	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs767543051	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs768461888	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs770375565	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs777235530	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs778254333	G>A	Pathogenic	Splice acceptor variant
rs781331391	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs796051932	->TGGCACTGACCCGAGACTCTGAGCG	Pathogenic	Coding sequence variant, stop gained, intron variant, inframe insertion
rs796051933	GTCATCTCTACGC>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs869312976	T>A,G	Pathogenic	Splice donor variant
rs869312985	G>A	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs869312986	A>C	Pathogenic	Coding sequence variant, missense variant
rs869312987	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs869312988	T>C	Pathogenic	Coding sequence variant, missense variant
rs869312989	->AGCGGA	Pathogenic	Coding sequence variant, intron variant, inframe insertion
rs869312990	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs869312991	C>A	Pathogenic	Coding sequence variant, missense variant
rs869312992	C>T	Pathogenic	Coding sequence variant, missense variant
rs869312993	->C	Pathogenic	Coding sequence variant, frameshift variant
rs869312994	C>T	Pathogenic	Coding sequence variant, stop gained
rs932494060	T>C,G	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1057141162	T>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1085307952	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1268519003	T>C	Likely-pathogenic	Splice donor variant
rs1301059768	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1329070853	GTCATCTCTACGCTGCAGGCAAGAC>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1554326239	G>C	Likely-pathogenic	Splice acceptor variant
rs1554326263	CGGCACC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554326267	GGATGTTCAAGGCAGCAAAGCCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554326365	CGC>GGCG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554327181	GTGGACCGAGAGCTGCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554327573	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554327825	G>T	Likely-pathogenic	Splice donor variant
rs1554328206	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554328363	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554328381	AGGTACGGCCCATC>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554328479	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1562742141	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1584028936	G>C	Likely-pathogenic	Splice acceptor variant
rs1584032751	G>-	Pathogenic	Splice acceptor variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT803010	hsa-miR-1273f	CLIP-seq
MIRT803011	hsa-miR-339-5p	CLIP-seq
MIRT803012	hsa-miR-4287	CLIP-seq
MIRT803013	hsa-miR-4423-5p	CLIP-seq
MIRT803014	hsa-miR-4461	CLIP-seq
MIRT803015	hsa-miR-4469	CLIP-seq
MIRT803016	hsa-miR-4685-3p	CLIP-seq
MIRT803017	hsa-miR-4755-3p	CLIP-seq
MIRT803018	hsa-miR-4795-3p	CLIP-seq
MIRT803019	hsa-miR-106a	CLIP-seq
MIRT803020	hsa-miR-106b	CLIP-seq
MIRT803021	hsa-miR-17	CLIP-seq
MIRT803022	hsa-miR-1972	CLIP-seq
MIRT803023	hsa-miR-20a	CLIP-seq
MIRT803024	hsa-miR-20b	CLIP-seq
MIRT803025	hsa-miR-302a	CLIP-seq
MIRT803026	hsa-miR-302b	CLIP-seq
MIRT803027	hsa-miR-302c	CLIP-seq
MIRT803028	hsa-miR-302d	CLIP-seq
MIRT803029	hsa-miR-302e	CLIP-seq
MIRT803030	hsa-miR-3620	CLIP-seq
MIRT803031	hsa-miR-372	CLIP-seq
MIRT803032	hsa-miR-373	CLIP-seq
MIRT803033	hsa-miR-4438	CLIP-seq
MIRT803034	hsa-miR-4717-5p	CLIP-seq
MIRT803035	hsa-miR-4731-5p	CLIP-seq
MIRT803036	hsa-miR-5095	CLIP-seq
MIRT803037	hsa-miR-512-3p	CLIP-seq
MIRT803038	hsa-miR-519d	CLIP-seq
MIRT803039	hsa-miR-520a-3p	CLIP-seq
MIRT803040	hsa-miR-520b	CLIP-seq
MIRT803041	hsa-miR-520c-3p	CLIP-seq
MIRT803042	hsa-miR-520d-3p	CLIP-seq
MIRT803043	hsa-miR-520e	CLIP-seq
MIRT803044	hsa-miR-520g	CLIP-seq
MIRT803045	hsa-miR-520h	CLIP-seq
MIRT803046	hsa-miR-93	CLIP-seq
MIRT803047	hsa-miR-938	CLIP-seq
MIRT803048	hsa-miR-4261	CLIP-seq
MIRT803049	hsa-miR-4496	CLIP-seq
MIRT803050	hsa-miR-4505	CLIP-seq
MIRT803035	hsa-miR-4731-5p	CLIP-seq
MIRT803017	hsa-miR-4755-3p	CLIP-seq
MIRT803051	hsa-miR-486-3p	CLIP-seq
MIRT803052	hsa-miR-1	CLIP-seq
MIRT803053	hsa-miR-103b	CLIP-seq
MIRT803054	hsa-miR-206	CLIP-seq
MIRT803055	hsa-miR-3652	CLIP-seq
MIRT803056	hsa-miR-3673	CLIP-seq
MIRT803057	hsa-miR-4430	CLIP-seq
MIRT803058	hsa-miR-4645-5p	CLIP-seq
MIRT803059	hsa-miR-4673	CLIP-seq
MIRT803060	hsa-miR-613	CLIP-seq
MIRT1937181	hsa-miR-1184	CLIP-seq
MIRT1937182	hsa-miR-1285	CLIP-seq
MIRT1937183	hsa-miR-1343	CLIP-seq
MIRT1937184	hsa-miR-3187-5p	CLIP-seq
MIRT803048	hsa-miR-4261	CLIP-seq
MIRT1937185	hsa-miR-4418	CLIP-seq
MIRT803049	hsa-miR-4496	CLIP-seq
MIRT1937186	hsa-miR-483-3p	CLIP-seq
MIRT803051	hsa-miR-486-3p	CLIP-seq
MIRT1937187	hsa-miR-509-3-5p	CLIP-seq
MIRT1937188	hsa-miR-509-5p	CLIP-seq
MIRT1937189	hsa-miR-612	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000050	Process	Urea cycle	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004056	Function	Argininosuccinate lyase activity	IBA
GO:0004056	Function	Argininosuccinate lyase activity	IDA	9045711, 11747432, 11747433
GO:0004056	Function	Argininosuccinate lyase activity	IEA
GO:0004056	Function	Argininosuccinate lyase activity	TAS	282632
GO:0005515	Function	Protein binding	IPI	25416956, 26871637, 31515488, 32296183
GO:0005737	Component	Cytoplasm	TAS	282632
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006520	Process	Amino acid metabolic process	IEA
GO:0006525	Process	Arginine metabolic process	IDA	9045711
GO:0006526	Process	L-arginine biosynthetic process	IDA	11747432, 11747433
GO:0006526	Process	L-arginine biosynthetic process	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0019676	Process	Ammonia assimilation cycle	IEA
GO:0042450	Process	L-arginine biosynthetic process via ornithine	IBA
GO:0042450	Process	L-arginine biosynthetic process via ornithine	IEA
GO:0042802	Function	Identical protein binding	IPI	21988832, 25416956, 25502805, 31515488, 32296183
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IEA
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IMP	22081021
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0170033	Process	L-amino acid metabolic process	IEA

Other IDs

• MIM: 608310
• HGNC: 746
• e!Ensembl: ENSG00000126522

Protein

• UniProt ID: P04424
• Protein name: Argininosuccinate lyase (ASAL) (EC 4.3.2.1) (Arginosuccinase)
• Protein function: Catalyzes the reversible cleavage of L-argininosuccinate to fumarate and L-arginine, an intermediate step reaction in the urea cycle mostly providing for hepatic nitrogen detoxification into excretable urea as well as de novo L-arginine synthesi
• PDB: 1AOS, 1K62
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00206	Lyase_1	11 → 305	Lyase	Domain
  PF14698	ASL_C2	368 → 435	Argininosuccinate lyase C-terminal	Domain

• Sequence:

  MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEM
  DQILHGLDKVAEEWAQGTFKLNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTD
  LRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTHLQRAQPIRWSHWILSHAVAL
  TRDSERLLEVRKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVA
  EFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKA
  GRVFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFEVSDTMSAVLQVATGVISTLQIHQENM
  GQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAETKGVALNQLSLQELQTISPLF
  SGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA

• Sequence length: 464

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
Acute myeloid leukemia	Pathogenic	rs142637046	RCV005886135	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Argininosuccinate lyase deficiency	Pathogenic; Likely pathogenic	rs398123127, rs1786857910, rs111407265, rs1395478201, rs2115694416, rs2115700686, rs2115760718, rs564735357, rs2115726233, rs777235530, rs200853731, rs796051931, rs2115733193, rs2115698756, rs2115742136, rs727503812, rs780846396, rs369828060, rs764546937, rs1180650883, rs138310841, rs2115764913, rs780023054, rs202142867, rs28940585, rs28941472, rs28940286, rs28941473, rs28940287, rs2485008020, rs2485017251, rs748203708, rs2484993660, rs2484993296, rs2484998272, rs2484993652, rs2485013731, rs2484993833, rs2484995561, rs2485021324, rs746120802, rs778321544, rs2485019558, rs1457607996, rs756339957, rs1786713307, rs201523601, rs199938613, rs796051932, rs751590073, rs369879957, rs769506424, rs796051933, rs770167670, rs1554328459, rs775061205, rs769017508, rs1409068410, rs2484993323, rs398123129, rs2484995497, rs2484998286, rs2484995776, rs142637046, rs869312985, rs869312986, rs869312987, rs869312988, rs869312989, rs869312990, rs869312991, rs869312993, rs869312994, rs869312976, rs875989948, rs569859973, rs373519615, rs2485007913, rs2484993140, rs760559303, rs2485013529, rs2485018766, rs373966403, rs1487170309, rs779486497, rs2485028634, rs2485011478, rs2485008761, rs2485011270, rs1786746301, rs2484993575, rs2484997426, rs2484997333, rs768722904, rs1584031242, rs2485013779, rs2484995844, rs2485011388, rs2484994019, rs2484993553, rs2485031310, rs2485013685, rs2484998179, rs2484993078, rs374304304, rs2485013520, rs2485007765, rs1584028092, rs2485019700, rs1786714587, rs2485028395, rs1449589636, rs756692067, rs2485028623, rs1263616535, rs2485017452, rs2484978444, rs1786673966, rs2484994153, rs2485013582, rs367543005, rs373697663, rs761651320, rs764356037, rs1554326263, rs1554327265, rs1329070853, rs754995756, rs1554326267, rs752100894, rs777437569, rs767543051, rs1268519003, rs1428029508, rs1554327181, rs750431938, rs763407938, rs1554326365, rs752783461, rs778254333, rs764602422, rs1554327573, rs1554328206, rs1554328363, rs757109353, rs1554328479, rs932494060, rs1554326239, rs771012029, rs150244667, rs770375565, rs756363516, rs781331391, rs1554327825, rs1554328381, rs773071023, rs767271619, rs1562737230, rs1562742141, rs201962738, rs759396688, rs1584028936, rs1584032751, rs777288665, rs1786667696, rs944576125, rs1786894242, rs1786770612, rs752397242, rs761268464, rs1786675239, rs1786880122, rs1786516110, rs1786532924, rs1786558070, rs1786558148, rs1786558577, rs1786750679, rs145138923, rs398123126	RCV001328964 RCV001344336 RCV001358697 RCV001377366 RCV001388903 RCV001580628 RCV001795615 RCV002024216 RCV002034148 RCV001964192 RCV001998774 RCV002045721 RCV002042436 RCV002013281 RCV002003797 RCV002018824 RCV001975016 RCV001972780 RCV001959859 RCV001963084 RCV001978315 RCV001913957 RCV002001661 RCV002248971 RCV000002499 RCV000002500 RCV000002502 RCV000002503 RCV000002504 RCV002306544 RCV002307865 RCV002308045 RCV002308086 RCV002308109 RCV002308203 RCV002309155 RCV002309253 RCV002309326 RCV002307340 RCV002310370 RCV003037232 RCV003060118 RCV003087594 RCV002624490 RCV002616834 RCV003115297 RCV002597891 RCV000411012 RCV001047877 RCV001852415 RCV000454306 RCV000668606 RCV003230904 RCV000668476 RCV001892645 RCV000669888 RCV002690401 RCV002725527 RCV002828337 RCV002825470 RCV002996425 RCV003018626 RCV003019527 RCV003035600 RCV003036281 RCV000210603 RCV000210647 RCV000210718 RCV000210597 RCV000210669 RCV000210713 RCV000210606 RCV000210546 RCV000210614 RCV000210554 RCV000211672 RCV003155643 RCV003475538 RCV003159555 RCV003324325 RCV003472617 RCV003472620 RCV003472639 RCV003472641 RCV003472644 RCV003472645 RCV003472650 RCV003472682 RCV003472697 RCV003472700 RCV003472708 RCV003472713 RCV003472721 RCV003472729 RCV003472758 RCV003472776 RCV003472779 RCV003472784 RCV003472795 RCV003498239 RCV003498957 RCV003499799 RCV003497774 RCV003498767 RCV003498669 RCV003499454 RCV003499488 RCV003603340 RCV003603227 RCV003603491 RCV003604221 RCV003604384 RCV003604401 RCV003604275 RCV003604438 RCV003604490 RCV003604517 RCV003604447 RCV003604618 RCV003602641 RCV003863784 RCV003872708 RCV003881720 RCV003990015 RCV004560456 RCV004560460 RCV004576172 RCV004573580 RCV004573592 RCV004573614 RCV004573634 RCV000020415 RCV000609637 RCV000588753 RCV001836830 RCV000533317 RCV000539996 RCV000587929 RCV000634855 RCV000665993 RCV000670972 RCV000673369 RCV000665518 RCV000668492 RCV000669012 RCV000674987 RCV000667516 RCV000672435 RCV000668596 RCV000667640 RCV000669909 RCV000673588 RCV000671050 RCV000670964 RCV000668088 RCV000671416 RCV000667947 RCV000673655 RCV000667660 RCV000670933 RCV000671122 RCV000672953 RCV000668958 RCV000666421 RCV000674562 RCV000668876 RCV000671347 RCV000669803 RCV000674647 RCV000671616 RCV000674177 RCV000666207 RCV000700063 RCV000695618 RCV000797180 RCV000817170 RCV000809927 RCV000804912 RCV001068111 RCV001036037 RCV001044835 RCV001071721 RCV001044324 RCV001201220 RCV001210762 RCV001210624 RCV001227318 RCV001229057 RCV001245689 RCV001264310 RCV001264311 RCV001264312 RCV001264313 RCV001264314 RCV001264315 RCV000178026 RCV000193312 RCV000409952 RCV000194332 RCV000672800	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ASL-related disorder	Likely pathogenic; Pathogenic	rs28940287, rs199938613, rs367543005, rs759396688, rs145138923	RCV004754236 RCV003422083 RCV003914857 RCV003411805 RCV003415843	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myasthenic syndrome 4C	Pathogenic	rs2115767079	RCV001729996	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs142637046	RCV005886134	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs142637046	RCV005886136	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs766832061, rs796051933, rs2484998132	RCV001375027 RCV001375026 RCV003389212	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Likely pathogenic; Pathogenic	rs778254333	RCV005901458	★★★★☆ 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
AMINO ACID METABOLISM, INBORN ERRORS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARGININOSUCCINIC ACIDURIA	—	CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acoustic Neuroma	Acoustic Neuroma	BEFREE	30527294		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	30981825		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	30981825		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	29476217		★☆☆☆☆ Found in Text Mining only
Argininosuccinic Aciduria	Argininosuccinic aciduria	Pubtator	12512996, 2263616, 24136197, 25778938, 26843370, 28251416, 282632, 31183366, 31943503, 32410394, 36870389	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	15471876		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	8845770	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	26397737		★☆☆☆☆ Found in Text Mining only
Carbamoyl Phosphate Synthase 1 Deficiency	Carbamoyl Phosphate Synthase Deficiency	BEFREE	18616627		★☆☆☆☆ Found in Text Mining only
Carbamoyl-Phosphate Synthase I Deficiency Disease	Carbamoyl Phosphate Synthase Deficiency	BEFREE	18616627		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28035420	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29548598		★☆☆☆☆ Found in Text Mining only
Clastothrix	Clastothrix	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	20739017		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	31747589		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27840980, 29768197		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27840980		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	38287255	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23328665, 28143434, 28245795, 29619520, 31468161		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23328665, 28245795	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23328665, 28143434, 28245795, 29619520, 30546006, 31468161		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28245795	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30652410, 31018905, 31819632		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency	Carbamoyl Phosphate Synthase Deficiency	BEFREE	18616627		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31747589		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	8366112		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	8366112, 8845770	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28035420		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	31943503	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23979921		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	28035420, 30176945	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28292973, 29548598		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15312140	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26397737		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	23979921, 26397737		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29548598		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23979921		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27840980, 29768197		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	35782058	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	28303317, 29654561, 30527294		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	8366112		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	29762090, 30271339		★☆☆☆☆ Found in Text Mining only
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME	MILES-CARPENTER X-Linked MENTAL RETARDATION SYNDROME	BEFREE	29551989		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	28168990, 30313089, 30447461, 31398708		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	28168990, 30313089, 30447461, 31398708		★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	24904080		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	24904080		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23979921, 29654561, 29805527		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	29055959	Associate	★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	29619520		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34439753	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis of cerebral veins	Thrombosis	BEFREE	29019892		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	30446964		★☆☆☆☆ Found in Text Mining only