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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	3094
Gene name	Histidine triad nucleotide binding protein 1
Gene symbol	HINT1
Synonyms (NCBI Gene)	HINTNMANPKCI-1PRKCNH1
Chromosome	5
Chromosome location	5q23.3
Summary	This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs149782619	C>G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs373849532	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397514489	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397514490	C>A,G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397514491	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397514492	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs397514493	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs762701283	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1554088064	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1561537267	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1580686455	A>G	Likely-pathogenic	Initiator codon variant, missense variant, non coding transcript variant

182

Show/Hide all (182)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047137	hsa-miR-183-5p	CLASH	23622248
MIRT037482	hsa-miR-744-5p	CLASH	23622248
MIRT623700	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT623699	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT623698	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT623697	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT623696	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT623695	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT623694	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT623693	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT664308	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT664307	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT664306	hsa-miR-490-3p	HITS-CLIP	23824327
MIRT664304	hsa-miR-7851-3p	HITS-CLIP	23824327
MIRT664305	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT664303	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT664302	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT664301	hsa-miR-128-3p	HITS-CLIP	23824327
MIRT664300	hsa-miR-216a-3p	HITS-CLIP	23824327
MIRT664298	hsa-miR-3681-3p	HITS-CLIP	23824327
MIRT664299	hsa-miR-4257	HITS-CLIP	23824327
MIRT664297	hsa-miR-3192-5p	HITS-CLIP	23824327
MIRT664296	hsa-miR-1827	HITS-CLIP	23824327
MIRT664295	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT664294	hsa-miR-3612	HITS-CLIP	23824327
MIRT664293	hsa-miR-650	HITS-CLIP	23824327
MIRT638606	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT638605	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT638604	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT638602	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT638603	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT638601	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT664292	hsa-miR-27a-3p	HITS-CLIP	23824327
MIRT664291	hsa-miR-27b-3p	HITS-CLIP	23824327
MIRT638597	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT638596	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT638595	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT638594	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT638593	hsa-miR-3689c	HITS-CLIP	23824327
MIRT638592	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT638591	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT638609	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT638608	hsa-miR-4284	HITS-CLIP	23824327
MIRT638607	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT638606	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT638605	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT638604	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT638602	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT638603	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT638601	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT638600	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT638599	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT638598	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT638597	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT638596	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT638595	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT638594	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT638593	hsa-miR-3689c	HITS-CLIP	23824327
MIRT638592	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT638591	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT638590	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT638589	hsa-miR-3122	HITS-CLIP	23824327
MIRT638588	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT638587	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT638586	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT623700	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT623699	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT623698	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT623697	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT623696	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT623695	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT623694	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT623693	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623700	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT623699	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT623698	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT623697	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT623696	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT623695	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT623694	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT623693	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT448753	hsa-miR-216b-5p	PAR-CLIP	22100165
MIRT448752	hsa-miR-4282	PAR-CLIP	22100165
MIRT448751	hsa-miR-944	PAR-CLIP	22100165
MIRT448750	hsa-miR-4635	PAR-CLIP	22100165
MIRT448749	hsa-miR-3924	PAR-CLIP	22100165
MIRT448748	hsa-miR-4795-3p	PAR-CLIP	22100165
MIRT448747	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT448746	hsa-miR-675-3p	PAR-CLIP	22100165
MIRT448745	hsa-miR-578	PAR-CLIP	22100165
MIRT623700	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT623699	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT623698	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT623697	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT623696	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT623695	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT623694	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT623693	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT664308	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT664307	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT664306	hsa-miR-490-3p	HITS-CLIP	23824327
MIRT664304	hsa-miR-7851-3p	HITS-CLIP	23824327
MIRT664305	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT664303	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT664302	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT664301	hsa-miR-128-3p	HITS-CLIP	23824327
MIRT664300	hsa-miR-216a-3p	HITS-CLIP	23824327
MIRT664298	hsa-miR-3681-3p	HITS-CLIP	23824327
MIRT664299	hsa-miR-4257	HITS-CLIP	23824327
MIRT664297	hsa-miR-3192-5p	HITS-CLIP	23824327
MIRT664296	hsa-miR-1827	HITS-CLIP	23824327
MIRT664295	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT664294	hsa-miR-3612	HITS-CLIP	23824327
MIRT664293	hsa-miR-650	HITS-CLIP	23824327
MIRT638606	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT638605	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT638604	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT638602	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT638603	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT638601	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT664292	hsa-miR-27a-3p	HITS-CLIP	23824327
MIRT664291	hsa-miR-27b-3p	HITS-CLIP	23824327
MIRT638597	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT638596	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT638595	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT638594	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT638593	hsa-miR-3689c	HITS-CLIP	23824327
MIRT638592	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT638591	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT638609	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT638608	hsa-miR-4284	HITS-CLIP	23824327
MIRT638607	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT638606	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT638605	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT638604	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT638602	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT638603	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT638601	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT638600	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT638599	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT638598	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT638597	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT638596	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT638595	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT638594	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT638593	hsa-miR-3689c	HITS-CLIP	23824327
MIRT638592	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT638591	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT638590	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT638589	hsa-miR-3122	HITS-CLIP	23824327
MIRT638588	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT638587	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT638586	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT623700	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT623699	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT623698	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT623697	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT623696	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT623695	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT623694	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT623693	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623700	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT623699	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT623698	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT623697	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT623696	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT623695	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT623694	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT623693	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT448753	hsa-miR-216b-5p	PAR-CLIP	22100165
MIRT448752	hsa-miR-4282	PAR-CLIP	22100165
MIRT448751	hsa-miR-944	PAR-CLIP	22100165
MIRT448750	hsa-miR-4635	PAR-CLIP	22100165
MIRT448749	hsa-miR-3924	PAR-CLIP	22100165
MIRT448748	hsa-miR-4795-3p	PAR-CLIP	22100165
MIRT448747	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT448746	hsa-miR-675-3p	PAR-CLIP	22100165
MIRT448745	hsa-miR-578	PAR-CLIP	22100165
MIRT2388985	hsa-miR-136	CLIP-seq
MIRT2388986	hsa-miR-216b	CLIP-seq
MIRT2388987	hsa-miR-4672	CLIP-seq
MIRT2388988	hsa-miR-526b	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IDA	16835243
GO:0000166	Function	Nucleotide binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0005080	Function	Protein kinase C binding	TAS	9770345
GO:0005515	Function	Protein binding	IPI	10958787, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9770345, 10958787
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9770345
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	8812426, 10958787
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	TAS	8812426
GO:0005886	Component	Plasma membrane	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	16835243
GO:0006508	Process	Proteolysis	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007165	Process	Signal transduction	TAS	8812426
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0009154	Process	Purine ribonucleotide catabolic process	IBA
GO:0009154	Process	Purine ribonucleotide catabolic process	IDA	16835243
GO:0016787	Function	Hydrolase activity	IBA
GO:0016787	Function	Hydrolase activity	IDA	16835243
GO:0016787	Function	Hydrolase activity	IEA
GO:0016926	Process	Protein desumoylation	IEA
GO:0016926	Process	Protein desumoylation	IMP	31088288
GO:0016929	Function	DeSUMOylase activity	IEA
GO:0016929	Function	DeSUMOylase activity	IMP	31088288
GO:0043530	Function	Adenosine 5'-monophosphoramidase activity	IDA	17217311, 31990367
GO:0043530	Function	Adenosine 5'-monophosphoramidase activity	IEA
GO:0043530	Function	Adenosine 5'-monophosphoramidase activity	IMP	16835243, 17337452, 23614568, 28691797, 29787766
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	IMP	16835243

MIM	HGNC	e!Ensembl
601314	4912	ENSG00000169567

P49773

Protein name

Adenosine 5'-monophosphoramidase HINT1 (EC 3.9.1.-) (Desumoylating isopeptidase HINT1) (EC 3.4.22.-) (Histidine triad nucleotide-binding protein 1) (Protein kinase C inhibitor 1) (Protein kinase C-interacting protein 1) (PKCI-1)

Protein function

Exhibits adenosine 5'-monophosphoramidase activity, hydrolyzing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2 (PubMed:15703176, PubMed:16835243, PubMed:172

PDB

1AV5 , 1KPA , 1KPB , 1KPC , 1KPE , 1KPF , 3TW2 , 4EQE , 4EQG , 4EQH , 4ZKL , 4ZKV , 5ED3 , 5ED6 , 5EMT , 5I2E , 5I2F , 5IPB , 5IPC , 5IPD , 5IPE , 5KLY , 5KLZ , 5KM0 , 5KM1 , 5KM2 , 5KM3 , 5KM4 , 5KM6 , 5KMA , 5KMB , 5KMC , 5O8I , 5WA8 , 5WA9 , 5WAA , 6B42 , 6G9Z , 6J53 , 6J58 , 6J5S , 6J5Z , 6J64 , 6J65 , 6N3V , 6N3W , 6N3X , 6N3Y , 6YQM , 7Q2U , 8P8P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01230	HIT	24 → 121	HIT domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed.

Sequence

MADEIAKAQVARPGGDTIFGKIIRKEIPAKIIFEDDRCLAFHDISPQAPTHFLVIPKKHI
SQISVAEDDDESLLGHLMIVGKKCAADLGLNKGYRMVVNEGSDGGQSVYHVHLHVLGGRQ
MHWPPG

Sequence length

126

Interactions

View interactions

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive axonal neuropathy with neuromyotonia	Pathogenic; Likely pathogenic	rs2149654884, rs145306016, rs2149651165, rs2149654857, rs1289497047, rs397514493, rs2479570025, rs2479569695, rs149782619, rs397514489, rs397514490, rs373849532, rs397514491, rs397514492, rs1554088064 View all (5 more)	RCV001353160 RCV001382703 RCV001807937 RCV002031398 RCV001960537 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease	Pathogenic	rs1580682390, rs1028404937	RCV000789326 RCV000789324	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral neuropathy	Pathogenic; Likely pathogenic	rs149782619, rs397514490	RCV001814014 RCV001814015	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensory axonal neuropathy	Likely pathogenic	rs1561537267	RCV000678468	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (22)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HINT1-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (69)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Neuromyotonia	Acquired Neuromyotonia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	26556829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34225819	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	36195955	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety disorder	Pubtator	37373392, 38279213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	36150388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive axonal neuropathy with neuromyotonia	Axonal Neuropathy With Neuromyotonia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19912621		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	15256063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19081673, 19089909, 27623945, 35241097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	25342199, 28007994		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CNS disorder	CNS Disorder	BEFREE	29177353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10555761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10555761	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	38103512	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29249810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Hereditary Motor Neuropathy Type II	Distal hereditary motor neuropathy	Pubtator	24105373, 36242072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	11771757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	23934318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Axonal Neuropathy	Giant axonal neuropathy	Pubtator	33663550, 35501818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	31848916		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	31832804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	39596683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29937721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	38103512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inherited Peripheral Neuropathy	Inherited Peripheral Neuropathy	CTD_human_DG	22961002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	39596683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Isaacs syndrome	Isaacs Syndrome	UNIPROT_DG	16835243, 22961002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isaacs syndrome	Isaacs Syndrome	BEFREE	22961002, 24105373, 25342199, 26182879, 26194197, 26760849, 28007994, 29787766, 30001929, 30006059, 31832804, 31848916		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isaacs syndrome	Isaacs Syndrome	GENOMICS_ENGLAND_DG	22961002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isaacs syndrome	Isaacs Syndrome	CLINVAR_DG	22961002, 25342199, 26182879, 27549087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isaacs syndrome	Isaacs Syndrome	ORPHANET_DG	22961002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isaacs syndrome	Isaacs Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30480765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19081673, 19089909, 26520111, 27623945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	19089909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21468541, 30008911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	29860313		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28394346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29249810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28410269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	29937721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	35501818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	26460262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	CTD_human_DG	22961002		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	17510397, 19081673, 21468541, 27623945, 29075577, 30008911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	30622225	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	34562060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type V	Distal hereditary motor neuropathy	Pubtator	24105373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	26194197, 28007994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28768489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	26556829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	24105373, 25342199, 26182879, 30001929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	26556829, 29214080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	33663550, 34562060, 35501818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	26556829		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroneal muscle atrophy	Peroneal muscle atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	36242072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24386364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15176481, 18799291, 20514075, 28410269, 29075577, 29177353, 29214080		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	17203012, 20514075		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorimotor neuropathy	Sensorimotor neuropathy	BEFREE	30001929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21468541, 30008911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

HINT1 (histidine triad nucleotide binding protein 1)