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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3670
Gene name	ISL LIM homeobox 1
Gene symbol	ISL1
Synonyms (NCBI Gene)	ISLET1Isl-1
Chromosome	5
Chromosome location	5q11.1
Summary	This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protei

Show/Hide all (30)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032141	hsa-let-7d-5p	Sequencing	20371350
MIRT438369	hsa-miR-128-3p	Luciferase reporter assay	24055866
MIRT438369	hsa-miR-128-3p	Luciferase reporter assay	24055866
MIRT438369	hsa-miR-128-3p	Luciferase reporter assay	24055866
MIRT438369	hsa-miR-128-3p	Luciferase reporter assay	24055866
MIRT623571	hsa-miR-561-3p	HITS-CLIP	23824327
MIRT623571	hsa-miR-561-3p	HITS-CLIP	23824327
MIRT1072705	hsa-miR-129-5p	CLIP-seq
MIRT1072706	hsa-miR-335	CLIP-seq
MIRT1072707	hsa-miR-374a	CLIP-seq
MIRT1072708	hsa-miR-374b	CLIP-seq
MIRT1072709	hsa-miR-450b-5p	CLIP-seq
MIRT1072710	hsa-miR-4696	CLIP-seq
MIRT1072711	hsa-miR-4775	CLIP-seq
MIRT1072712	hsa-miR-507	CLIP-seq
MIRT1072713	hsa-miR-557	CLIP-seq
MIRT1072714	hsa-miR-590-3p	CLIP-seq
MIRT2017902	hsa-miR-3613-3p	CLIP-seq
MIRT2249699	hsa-miR-132	CLIP-seq
MIRT2249700	hsa-miR-212	CLIP-seq
MIRT2249701	hsa-miR-570	CLIP-seq
MIRT2437916	hsa-miR-139-3p	CLIP-seq
MIRT2437917	hsa-miR-3121-3p	CLIP-seq
MIRT2437918	hsa-miR-3688-5p	CLIP-seq
MIRT2437919	hsa-miR-4470	CLIP-seq
MIRT2437920	hsa-miR-4474-3p	CLIP-seq
MIRT2437921	hsa-miR-4684-3p	CLIP-seq
MIRT2437922	hsa-miR-4731-3p	CLIP-seq
MIRT2437923	hsa-miR-4740-3p	CLIP-seq
MIRT2437924	hsa-miR-4801	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
PAX4	Unknown	15161765
SOX2	Repression	20739473

147

Show/Hide all (147)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	19619559
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IBA
GO:0001046	Function	Core promoter sequence-specific DNA binding	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	19619559
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003139	Process	Secondary heart field specification	IMP	20520780
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003215	Process	Cardiac right ventricle morphogenesis	IEA
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0003266	Process	Regulation of secondary heart field cardioblast proliferation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	20211142, 25416956, 28514442, 31515488, 32296183, 33961781, 36950384, 37207277
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	7907017
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	7907017
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007409	Process	Axonogenesis	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IEA
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	ISS
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IEA
GO:0016922	Function	Nuclear receptor binding	IEA
GO:0016922	Function	Nuclear receptor binding	ISS
GO:0021520	Process	Spinal cord motor neuron cell fate specification	IEA
GO:0021522	Process	Spinal cord motor neuron differentiation	IEA
GO:0021522	Process	Spinal cord motor neuron differentiation	ISS
GO:0021524	Process	Visceral motor neuron differentiation	IEA
GO:0021559	Process	Trigeminal nerve development	IEA
GO:0021559	Process	Trigeminal nerve development	ISS
GO:0021983	Process	Pituitary gland development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030274	Function	LIM domain binding	IEA
GO:0030331	Function	Nuclear estrogen receptor binding	IEA
GO:0030331	Function	Nuclear estrogen receptor binding	ISS
GO:0031016	Process	Pancreas development	IEA
GO:0031016	Process	Pancreas development	ISS
GO:0031103	Process	Axon regeneration	IEA
GO:0031290	Process	Retinal ganglion cell axon guidance	IEA
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IEA
GO:0031333	Process	Negative regulation of protein-containing complex assembly	ISS
GO:0032024	Process	Positive regulation of insulin secretion	IDA	19619559
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032725	Process	Positive regulation of granulocyte macrophage colony-stimulating factor production	IEA
GO:0032725	Process	Positive regulation of granulocyte macrophage colony-stimulating factor production	ISS
GO:0032729	Process	Positive regulation of type II interferon production	IEA
GO:0032729	Process	Positive regulation of type II interferon production	ISS
GO:0032730	Process	Positive regulation of interleukin-1 alpha production	IEA
GO:0032730	Process	Positive regulation of interleukin-1 alpha production	ISS
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	ISS
GO:0032735	Process	Positive regulation of interleukin-12 production	IEA
GO:0032735	Process	Positive regulation of interleukin-12 production	ISS
GO:0032755	Process	Positive regulation of interleukin-6 production	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	ISS
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS
GO:0033147	Process	Negative regulation of intracellular estrogen receptor signaling pathway	IEA
GO:0033147	Process	Negative regulation of intracellular estrogen receptor signaling pathway	ISS
GO:0043425	Function	BHLH transcription factor binding	IPI	16321656
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045597	Process	Positive regulation of cell differentiation	ISS
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045766	Process	Positive regulation of angiogenesis	ISS
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	23805044
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048665	Process	Neuron fate specification	IBA
GO:0048665	Process	Neuron fate specification	IEA
GO:0048665	Process	Neuron fate specification	ISS
GO:0048762	Process	Mesenchymal cell differentiation	IEA
GO:0048762	Process	Mesenchymal cell differentiation	ISS
GO:0048863	Process	Stem cell differentiation	IEA
GO:0048880	Process	Sensory system development	IEA
GO:0048880	Process	Sensory system development	ISS
GO:0048935	Process	Peripheral nervous system neuron development	IEA
GO:0048936	Process	Peripheral nervous system neuron axonogenesis	IEA
GO:0048936	Process	Peripheral nervous system neuron axonogenesis	ISS
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050728	Process	Negative regulation of inflammatory response	ISS
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	ISS
GO:0060037	Process	Pharyngeal system development	IEA
GO:0060037	Process	Pharyngeal system development	ISS
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060379	Process	Cardiac muscle cell myoblast differentiation	IEA
GO:0060384	Process	Innervation	IEA
GO:0060384	Process	Innervation	ISS
GO:0060413	Process	Atrial septum morphogenesis	IEA
GO:0060413	Process	Atrial septum morphogenesis	ISS
GO:0060913	Process	Cardiac cell fate determination	IDA	19571884
GO:0060913	Process	Cardiac cell fate determination	IEA
GO:0060931	Process	Sinoatrial node cell development	IEA
GO:0060931	Process	Sinoatrial node cell development	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19619559
GO:0071385	Process	Cellular response to glucocorticoid stimulus	IEA
GO:0071385	Process	Cellular response to glucocorticoid stimulus	ISS
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0071657	Process	Positive regulation of granulocyte colony-stimulating factor production	IEA
GO:0071657	Process	Positive regulation of granulocyte colony-stimulating factor production	ISS
GO:0072201	Process	Negative regulation of mesenchymal cell proliferation	IEA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IEA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	ISS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090280	Process	Positive regulation of calcium ion import	IEA
GO:1901258	Process	Positive regulation of macrophage colony-stimulating factor production	IEA
GO:1901258	Process	Positive regulation of macrophage colony-stimulating factor production	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:1990841	Function	Promoter-specific chromatin binding	IEA
GO:1990841	Function	Promoter-specific chromatin binding	ISS
GO:2000676	Process	Positive regulation of type B pancreatic cell apoptotic process	IEA

MIM	HGNC	e!Ensembl
600366	6132	ENSG00000016082

P61371

Protein name

Insulin gene enhancer protein ISL-1 (Islet-1)

Protein function

DNA-binding transcriptional activator. Recognizes and binds to the consensus octamer binding site 5'-ATAATTAA-3' in promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) diffe

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00412	LIM	17 → 75	LIM domain	Domain
PF00412	LIM	79 → 135	LIM domain	Domain
PF00046	Homeodomain	182 → 238	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in subsets of neurons of the adrenal medulla and dorsal root ganglion, inner nuclear and ganglion cell layers in the retina, the pineal and some regions of the brain. {ECO:0000269|PubMed:7907017}.

Sequence

MGDMGDPPKKKRLISLCVGCGNQIHDQYILRVSPDLEWHAACLKCAECNQYLDESCTCFV
RDGKTYCKRDYIRLYGIKCAKCSIGFSKNDFVMRARSKVYHIECFRCVACSRQLIPGDEF
ALREDGLFCRADHDVVERASLGAGDPLSPLHPARPLQMAAEPISARQPALRPHVHKQPEK
TTRVRTVLNEKQLHTLRTCYAANPRPDALMKEQLVEMTGLSPRVIRVWFQNKRCKDKKRS
IMMKQLQQQQPNDKTNIQGMTGTPMVAASPERHDGGLQANPVEVQSYQPPWKVLSDFALQ
SDIDQPAFQQLVNFSEGGPGSNSTGSEVASMSSQLPDTPNSMVASPIEA

Sequence length

349

Interactions

View interactions

	KEGG		Reactome
	Signaling pathways regulating pluripotency of stem cells		Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)

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 Unknown Diseases (19)

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.
ATRIAL FIBRILLATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY AND EPISPADIAS COMPLEX	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder exstrophy-epispadias-cloacal extrophy complex	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC BLADDER EXSTROPHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOUBLE OUTLET RIGHT VENTRICLE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart, malformation of	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISL1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (89)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	29497310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	25070240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	25398365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	23341441	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	22535646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	36959563	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	19359597, 23152444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	24634231		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile duct carcinoma	Bile duct carcinoma	BEFREE	29497310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	18496208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Exstrophy	Bladder Exstrophy	BEFREE	25763902, 28176844, 29126155		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Exstrophy	Bladder Exstrophy	ORPHANET_DG	25763902		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder exstrophy	Bladder Exstrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Exstrophy	Bladder Exstrophy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	26332997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23407556, 25908435, 27071379, 29497310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27071379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	38538277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	30236546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	30536204		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28111737, 30536204		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	36791193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	Charge syndrome	Pubtator	37052590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	BEFREE	20807224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary valve	Congenital Atresia Of Pulmonary Valve	BEFREE	20807224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	30390123		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	20520780, 22480195, 23152444, 23229290, 24634231, 26138767		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	34497584	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	20807224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	20520780, 22480195, 23229290, 24634231, 30390123, 31484864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10969846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10969846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10969846, 11978668, 19619559, 21814221, 30341898, 7789634, 7912209		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	31895808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	24845569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	BEFREE	20807224, 31484864		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Double Outlet Right Ventricle	Double outlet right ventricle	Pubtator	31484864, 34260301, 35870951	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	BEFREE	25645121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epispadias	Epispadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	26142548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	26142548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32513296	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	33476445	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	20520780, 22480195, 31484864, 38452706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	29928977	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	30897084, 31484864, 33757570, 34260301, 35870951, 36759823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	25070240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	32813226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	26138767	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29497310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	25070240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	25070240	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	25070240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	25070240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23407556, 25908435, 27071379, 29497310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26142548, 27183908, 30674889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	26332997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26142548, 30226569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	19619559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	23152444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29482621		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	23407556, 24845569, 25070240, 27183908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	18980998, 36130928	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	23417100, 29445148, 31819055, 8305241		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	30127528		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28498280, 30456697, 31133441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10334320, 11978668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32153512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39513463	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23503646	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	33198821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	29497310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25125695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18496208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	38538277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26142548, 27183908, 30674889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	24400131, 36830727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	BEFREE	21060249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27071379, 29975921, 30226569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27071379, 30226569	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	20807224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26332997	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	BEFREE	23572340, 24634231, 31484864		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

ISL1 (ISL LIM homeobox 1)