Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8942
Gene name	Kynureninase
Gene symbol	KYNU
Synonyms (NCBI Gene)	KYNUUVCRL2
Chromosome	2
Chromosome location	2q22.2
Summary	Kynureninase is a pyridoxal-5`-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NA

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs606231307	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs758865880	T>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs770642379	TTTAAGC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1135401744	G>T	Pathogenic	Splice acceptor variant, genic upstream transcript variant

188

Show/Hide all (188)

miRTarBase ID	miRNA	Experiments	Reference
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	21572407
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	21572407
MIRT519029	hsa-miR-4494	HITS-CLIP	21572407
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	21572407
MIRT519028	hsa-miR-361-5p	HITS-CLIP	21572407
MIRT616831	hsa-miR-8485	HITS-CLIP	21572407
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT616831	hsa-miR-8485	HITS-CLIP	23313552
MIRT616830	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT616829	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT616828	hsa-miR-603	HITS-CLIP	23313552
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT616826	hsa-miR-3941	HITS-CLIP	23313552
MIRT695997	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT519029	hsa-miR-4494	HITS-CLIP	23824327
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT519028	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT519029	hsa-miR-4494	HITS-CLIP	23824327
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT519028	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT519029	hsa-miR-4494	HITS-CLIP	23824327
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT519028	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT616830	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT616829	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT616828	hsa-miR-603	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT616826	hsa-miR-3941	HITS-CLIP	23824327
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT519031	hsa-miR-3074-3p	PAR-CLIP	21572407
MIRT519030	hsa-miR-2115-3p	PAR-CLIP	21572407
MIRT519029	hsa-miR-4494	PAR-CLIP	21572407
MIRT519027	hsa-miR-499b-5p	PAR-CLIP	21572407
MIRT519028	hsa-miR-361-5p	PAR-CLIP	21572407
MIRT519031	hsa-miR-3074-3p	PAR-CLIP	23446348
MIRT519030	hsa-miR-2115-3p	PAR-CLIP	23446348
MIRT519029	hsa-miR-4494	PAR-CLIP	23446348
MIRT519027	hsa-miR-499b-5p	PAR-CLIP	23446348
MIRT519028	hsa-miR-361-5p	PAR-CLIP	23446348
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	27418678
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	27418678
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	27418678
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	27418678
MIRT616830	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT616830	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT616829	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT616829	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT616826	hsa-miR-3941	HITS-CLIP	27418678
MIRT616826	hsa-miR-3941	HITS-CLIP	27418678
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT695997	hsa-miR-4789-5p	HITS-CLIP	27418678
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT616828	hsa-miR-603	HITS-CLIP	27418678
MIRT616828	hsa-miR-603	HITS-CLIP	27418678
MIRT616831	hsa-miR-8485	HITS-CLIP	27418678
MIRT616831	hsa-miR-8485	HITS-CLIP	27418678
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	21572407
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	21572407
MIRT519029	hsa-miR-4494	HITS-CLIP	21572407
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	21572407
MIRT519028	hsa-miR-361-5p	HITS-CLIP	21572407
MIRT616831	hsa-miR-8485	HITS-CLIP	21572407
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT616831	hsa-miR-8485	HITS-CLIP	23313552
MIRT616830	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT616829	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT616828	hsa-miR-603	HITS-CLIP	23313552
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT616826	hsa-miR-3941	HITS-CLIP	23313552
MIRT695997	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT519029	hsa-miR-4494	HITS-CLIP	23824327
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT519028	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT519029	hsa-miR-4494	HITS-CLIP	23824327
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT519028	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT519029	hsa-miR-4494	HITS-CLIP	23824327
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT519028	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT616830	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT616829	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT616828	hsa-miR-603	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT616826	hsa-miR-3941	HITS-CLIP	23824327
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT519031	hsa-miR-3074-3p	PAR-CLIP	21572407
MIRT519030	hsa-miR-2115-3p	PAR-CLIP	21572407
MIRT519029	hsa-miR-4494	PAR-CLIP	21572407
MIRT519027	hsa-miR-499b-5p	PAR-CLIP	21572407
MIRT519028	hsa-miR-361-5p	PAR-CLIP	21572407
MIRT519031	hsa-miR-3074-3p	PAR-CLIP	23446348
MIRT519030	hsa-miR-2115-3p	PAR-CLIP	23446348
MIRT519029	hsa-miR-4494	PAR-CLIP	23446348
MIRT519027	hsa-miR-499b-5p	PAR-CLIP	23446348
MIRT519028	hsa-miR-361-5p	PAR-CLIP	23446348
MIRT1102537	hsa-miR-141	CLIP-seq
MIRT1102538	hsa-miR-200a	CLIP-seq
MIRT1102539	hsa-miR-382	CLIP-seq
MIRT1102540	hsa-miR-4273	CLIP-seq
MIRT1102541	hsa-miR-4677-5p	CLIP-seq
MIRT1102542	hsa-miR-4720-3p	CLIP-seq
MIRT1102543	hsa-miR-4777-5p	CLIP-seq
MIRT1102544	hsa-miR-4804-3p	CLIP-seq
MIRT1102545	hsa-miR-518d-5p	CLIP-seq
MIRT1102546	hsa-miR-519b-5p	CLIP-seq
MIRT1102547	hsa-miR-519c-5p	CLIP-seq
MIRT1102548	hsa-miR-520c-5p	CLIP-seq
MIRT1102549	hsa-miR-526a	CLIP-seq
MIRT1102550	hsa-miR-570	CLIP-seq
MIRT1102551	hsa-miR-140-3p	CLIP-seq
MIRT1102552	hsa-miR-3607-3p	CLIP-seq
MIRT1102553	hsa-miR-3686	CLIP-seq
MIRT1102554	hsa-miR-4652-3p	CLIP-seq
MIRT1102555	hsa-miR-4724-5p	CLIP-seq
MIRT1102556	hsa-miR-4795-3p	CLIP-seq
MIRT1102557	hsa-miR-548ag	CLIP-seq
MIRT1102558	hsa-miR-548ai	CLIP-seq
MIRT1102559	hsa-miR-646	CLIP-seq
MIRT1102560	hsa-miR-656	CLIP-seq
MIRT2259248	hsa-miR-28-3p	CLIP-seq
MIRT2259249	hsa-miR-3065-5p	CLIP-seq
MIRT2259250	hsa-miR-4662a-5p	CLIP-seq
MIRT2259251	hsa-miR-548u	CLIP-seq
MIRT2259252	hsa-miR-576-3p	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	6468727
GO:0005829	Component	Cytosol	IDA	6468727
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006569	Process	L-tryptophan catabolic process	IEA
GO:0006569	Process	L-tryptophan catabolic process	IMP	17334708
GO:0006753	Process	Nucleoside phosphate metabolic process	IEA
GO:0009435	Process	NAD+ biosynthetic process	IEA
GO:0009435	Process	NAD+ biosynthetic process	IMP	28792876
GO:0016787	Function	Hydrolase activity	IEA
GO:0019363	Process	Pyridine nucleotide biosynthetic process	IEA
GO:0019441	Process	L-tryptophan catabolic process to kynurenine	IBA
GO:0019805	Process	Quinolinate biosynthetic process	IDA	9291104
GO:0019805	Process	Quinolinate biosynthetic process	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0030429	Function	Kynureninase activity	IBA
GO:0030429	Function	Kynureninase activity	IDA	9180257, 11985583, 28792876
GO:0030429	Function	Kynureninase activity	IEA
GO:0030429	Function	Kynureninase activity	IMP	17334708
GO:0034341	Process	Response to type II interferon	IDA	9291104
GO:0034354	Process	'de novo' NAD+ biosynthetic process from L-tryptophan	IEA
GO:0034516	Process	Response to vitamin B6	IMP	1939450
GO:0042803	Function	Protein homodimerization activity	IDA	11985583
GO:0043420	Process	Anthranilate metabolic process	IBA
GO:0043420	Process	Anthranilate metabolic process	IDA	11985583
GO:0043420	Process	Anthranilate metabolic process	IEA
GO:0072521	Process	Purine-containing compound metabolic process	IEA
GO:0097053	Process	L-kynurenine catabolic process	IEA

MIM	HGNC	e!Ensembl
605197	6469	ENSG00000115919

Q16719

Protein name

Kynureninase (EC 3.7.1.3) (L-kynurenine hydrolase)

Protein function

Catalyzes the cleavage of L-kynurenine (L-Kyn) and L-3-hydroxykynurenine (L-3OHKyn) into anthranilic acid (AA) and 3-hydroxyanthranilic acid (3-OHAA), respectively. Has a preference for the L-3-hydroxy form. Also has cysteine-conjugate-beta-lyas

PDB

2HZP , 3E9K , 7S3V

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00266	Aminotran_5	69 → 403	Aminotransferase class-V	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues tested (heart, brain placenta, lung, liver, skeletal muscle, kidney and pancreas). Highest levels found in placenta, liver and lung. Expressed in all brain regions. {ECO:0000269|PubMed:8706755, ECO:0000269|PubM

Sequence

MEPSSLELPADTVQRIAAELKCHPTDERVALHLDEEDKLRHFRECFYIPKIQDLPPVDLS
LVNKDENAIYFLGNSLGLQPKMVKTYLEEELDKWAKIAAYGHEVGKRPWITGDESIVGLM
KDIVGANEKEIALMNALTVNLHLLMLSFFKPTPKRYKILLEAKAFPSDHYAIESQLQLHG
LNIEESMRMIKPREGEETLRIEDILEVIEKEGDSIAVILFSGVHFYTGQHFNIPAITKAG
QAKGCYVGFDLAHAVGNVELYLHDWGVDFACWCSYKYLNAGAGGIAGAFIHEKHAHTIKP
ALVGWFGHELSTRFKMDNKLQLIPGVCGFRISNPPILLVCSLHASLEIFKQATMKALRKK
SVLLTGYLEYLIKHNYGKDKAATKKPVVNIITPSHVEERGCQLTITFSVPNKDVFQELEK
RGVVCDKRNPNGIRVAPVPLYNSFHDVYKFTNLLTSILDSAETKN

Sequence length

465

Interactions

View interactions

	KEGG		Reactome
	Tryptophan metabolism Metabolic pathways Biosynthesis of cofactors		Tryptophan catabolism

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)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Catel-Manzke syndrome	Pathogenic; Likely pathogenic	rs780720490, rs142934146, rs147475752	RCV001256675 RCV001256674 RCV001256673	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs754953201	RCV005922639	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital NAD deficiency disorder	Pathogenic; Likely pathogenic	rs1135401744, rs758865880, rs770642379, rs147475752, rs767060858, rs752269711, rs765122670, rs1458654786, rs771131526	RCV000496147 RCV000496184 RCV000496114 RCV001391067 RCV001391064 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hydroxykynureninuria	Pathogenic	rs606231307	RCV000148021	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KYNU-related disorder	Likely pathogenic	rs2467839682, rs1685164393, rs1683090143	RCV003335880 RCV003335881 RCV004550769	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vertebral, cardiac, renal, and limb defects syndrome 2	Likely pathogenic; Pathogenic	rs550079487, rs754953201, rs2467829103, rs1135401744, rs758865880, rs770642379, rs142934146, rs767060858, rs765122670, rs1458654786, rs771131526	RCV003326157 RCV001808860 RCV002265065 RCV000505804 RCV000505808 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATEL MANZKE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL VERTEBRAL, CARDIAC, RENAL ANOMALIES SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL VERTEBRAL-CARDIAC-RENAL ANOMALIES SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (77)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-3 toe syndactyly	Syndactyly Of The Toes	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	34194442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	33298635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	28978552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Reactive	Reactive arthritis	Pubtator	32934294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	30123050, 34177888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31332944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33109232	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	37221310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	38303405, 39596612	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	GENOMICS_ENGLAND_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital vertebral-cardiac-renal anomalies syndrome	Congenital Vertebral-Cardiac-Renal Anomalies Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	BEFREE	31434983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Central Nervous System	Degenerative Diseases, Central Nervous System	CTD_human_DG	16365156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Spinal Cord	Degenerative Diseases, Central Nervous System	CTD_human_DG	16365156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	30718454	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	15541637, 28703865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31923704	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29746559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	15541637, 28703865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	22012986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26936918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26936918	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26936918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	31923704	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	31923704	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	31923704	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydroxykynureninuria	Hydroxykynureninuria	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertensive disease	Hypertension	BEFREE	22012986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	29803800	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32934294, 34948292	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leiomyoma	Leiomyoma	Pubtator	35715314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	22683764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31332944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31332944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	GENOMICS_ENGLAND_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	31923704	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26936918, 31332944, 31434983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	CTD_human_DG	16365156		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonprogressive encephalopathy	Encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26347385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24064976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34632851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	15541637, 26341698, 26725996, 28703865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	29803800, 38303405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30123050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	15541637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31419330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thoracic hemivertebra	Thoracic hemivertebra	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37221310	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1	Congenital vertebral-cardiac-renal anomalies syndrome	ORPHANET_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2	Congenital vertebral-cardiac-renal anomalies syndrome	GENOMICS_ENGLAND_DG	28792876		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2	Congenital vertebral-cardiac-renal anomalies syndrome	ORPHANET_DG	28792876		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2	Congenital vertebral-cardiac-renal anomalies syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

KYNU (kynureninase)