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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6927
Gene name Gene Name - the full gene name approved by the HGNC.	HNF1 homeobox A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HNF1A
Synonyms (NCBI Gene) Gene synonyms aliases	HNF-1-alpha, HNF-1A, HNF1, HNF1alpha, HNF4A, IDDM20, LFB1, MODY3, TCF-1, TCF1
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q24.31
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5`-GTTAATNATTAAC-3`. Defects in this gene are a cause

Show/Hide all(95)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1169288	A>C,T	Benign, risk-factor	Coding sequence variant, missense variant
rs1169305	A>C,G,T	Benign, not-provided, pathogenic	Coding sequence variant, missense variant
rs137853236	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853237	A>G	Pathogenic	Coding sequence variant, missense variant
rs137853238	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853239	C>G,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs137853240	G>A	Risk-factor	Coding sequence variant, missense variant
rs137853242	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs137853243	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853244	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853245	C>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137853246	G>C	Pathogenic	Coding sequence variant, missense variant
rs137853247	G>A,C	Likely-benign, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs150513055	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922576	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922577	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922578	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs193922580	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs193922582	->CT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922587	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922588	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922589	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs193922592	A>G,T	Pathogenic, likely-pathogenic	Initiator codon variant, missense variant
rs193922593	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922594	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922596	->GCA	Likely-pathogenic	Inframe insertion, coding sequence variant
rs193922597	C>A,T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs193922598	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922599	GAA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs193922600	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922602	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922603	G>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs193922604	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922605	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922606	C>A,G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs386134267	TGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGG>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs483353044	G>A,C	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs551484245	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs587776825	C>-,CC,CCC	Pathogenic	Coding sequence variant, frameshift variant
rs587780357	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs753998395	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs754728827	C>T	Pathogenic	Stop gained, coding sequence variant
rs754729248	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs762703502	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs765432081	C>T	Pathogenic	Coding sequence variant, missense variant
rs765596650	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs766790596	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs766956862	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs769086289	C>A,T	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs771108132	C>T	Pathogenic	Coding sequence variant, missense variant
rs774637975	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs776793516	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs779184183	G>A	Pathogenic	Missense variant, coding sequence variant
rs886039386	C>T	Pathogenic	Coding sequence variant, missense variant
rs886039544	C>T	Pathogenic	Coding sequence variant, missense variant
rs893256143	G>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1057520291	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1057520504	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057520779	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057524908	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1064793150	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131692182	G>A	Likely-pathogenic	Splice donor variant
rs1172328722	G>A	Pathogenic	Coding sequence variant, missense variant
rs1288094664	AAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1315721381	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1463923467	G>A	Pathogenic	Splice acceptor variant
rs1555210478	T>G	Pathogenic	Splice donor variant
rs1555211436	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555211904	G>A	Pathogenic	Splice acceptor variant
rs1555211927	AAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555211975	->GCAT	Pathogenic	Frameshift variant, coding sequence variant
rs1555211999	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555212014	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555212248	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555212359	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555212363	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555212396	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555260207	G>-	Pathogenic	Frameshift variant, initiator codon variant
rs1565883507	C>T	Pathogenic	Stop gained, coding sequence variant
rs1565885524	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1565885935	GCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565886545	G>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1565887211	C>T	Pathogenic	Stop gained, coding sequence variant
rs1566092307	C>T	Pathogenic	Stop gained, coding sequence variant
rs1566092362	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1566092470	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592897526	AAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGCTGGCCCTCCCTTGGCCTGTGACAGAGCCCCTCACCCCCACATCCCCC>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant, frameshift variant
rs1592898255	CGGCTCAGCGCCAGCCCCAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593054210	CAG>-	Pathogenic	Intron variant, splice acceptor variant
rs1593058338	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1593058932	G>CC	Pathogenic	Coding sequence variant, frameshift variant
rs1593060859	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593060890	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593060912	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1593060966	AGC>GGT	Likely-pathogenic	Stop gained, coding sequence variant

Show/Hide all(44)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004646	hsa-miR-194-5p	Review	20029422
MIRT044838	hsa-miR-320a	CLASH	23622248
MIRT437966	hsa-miR-15b-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705650
MIRT437966	hsa-miR-15b-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705650
MIRT437966	hsa-miR-15b-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705650
MIRT437966	hsa-miR-15b-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705650
MIRT737280	hsa-miR-192-5p	qRT-PCR	33024199
MIRT1050535	hsa-miR-1292	CLIP-seq
MIRT1050536	hsa-miR-214	CLIP-seq
MIRT1050537	hsa-miR-3619-5p	CLIP-seq
MIRT1050538	hsa-miR-3670	CLIP-seq
MIRT1050539	hsa-miR-4291	CLIP-seq
MIRT1050540	hsa-miR-4330	CLIP-seq
MIRT1050541	hsa-miR-4471	CLIP-seq
MIRT1050542	hsa-miR-4700-3p	CLIP-seq
MIRT1050543	hsa-miR-635	CLIP-seq
MIRT1050544	hsa-miR-761	CLIP-seq
MIRT1050545	hsa-miR-922	CLIP-seq
MIRT2011604	hsa-miR-2861	CLIP-seq
MIRT2011605	hsa-miR-3192	CLIP-seq
MIRT2011606	hsa-miR-3675-5p	CLIP-seq
MIRT2011607	hsa-miR-661	CLIP-seq
MIRT2243768	hsa-miR-1233	CLIP-seq
MIRT2243769	hsa-miR-4450	CLIP-seq
MIRT2243770	hsa-miR-4747-5p	CLIP-seq
MIRT2243771	hsa-miR-4768-3p	CLIP-seq
MIRT2243772	hsa-miR-4786-3p	CLIP-seq
MIRT2243773	hsa-miR-665	CLIP-seq
MIRT2243774	hsa-miR-671-5p	CLIP-seq
MIRT2389071	hsa-miR-4290	CLIP-seq
MIRT2389072	hsa-miR-4757-5p	CLIP-seq
MIRT2682353	hsa-miR-15a	CLIP-seq
MIRT2682354	hsa-miR-15b	CLIP-seq
MIRT2682355	hsa-miR-16	CLIP-seq
MIRT2682356	hsa-miR-1915	CLIP-seq
MIRT2682357	hsa-miR-195	CLIP-seq
MIRT1050536	hsa-miR-214	CLIP-seq
MIRT1050537	hsa-miR-3619-5p	CLIP-seq
MIRT2682358	hsa-miR-424	CLIP-seq
MIRT1050539	hsa-miR-4291	CLIP-seq
MIRT2682359	hsa-miR-4690-5p	CLIP-seq
MIRT2682360	hsa-miR-497	CLIP-seq
MIRT1050544	hsa-miR-761	CLIP-seq
MIRT1050545	hsa-miR-922	CLIP-seq

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
HNF4A	Unknown	9792724
RXRA	Unknown	11027556
ZHX2	Unknown	18194454

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	12453420, 15961790
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
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	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001889	Process	Liver development	IEA
GO:0003677	Function	DNA binding	IDA	1677179, 1989880, 10333057, 12530534
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	1989880, 11980910, 12530534
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	1677179, 11980910, 14500717, 19264593, 21988832, 33961781, 35140242, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12530534, 15355349
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	12530534, 15355349
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	10330009
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030073	Process	Insulin secretion	IMP	10333057
GO:0031016	Process	Pancreas development	IEA
GO:0032991	Component	Protein-containing complex	IDA	11980910
GO:0035565	Process	Regulation of pronephros size	IMP	15355349
GO:0035623	Process	Renal D-glucose absorption	IMP	11269503
GO:0042593	Process	Glucose homeostasis	IMP	11269503, 15277395
GO:0042803	Function	Protein homodimerization activity	IPI	1677179
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	1989880, 11980910, 12453420, 12530534
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046323	Process	D-glucose import	IMP	11269503
GO:0046982	Function	Protein heterodimerization activity	IDA	12530534
GO:0046983	Function	Protein dimerization activity	IPI	12453420
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IGI	15355349

MIM	HGNC	e!Ensembl
142410	11621	ENSG00000135100

Protein

UniProt ID

P20823

Protein name

Hepatocyte nuclear factor 1-alpha (HNF-1-alpha) (HNF-1A) (Liver-specific transcription factor LF-B1) (LFB1) (Transcription factor 1) (TCF-1)

Protein function

Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:10966642, PubMed:12453420)

PDB

1IC8 , 2GYP , 8PI7 , 8PI8 , 8PI9 , 8PIA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04814	HNF-1_N	8 → 168	Hepatocyte nuclear factor 1 (HNF-1), N terminus	Family
PF04812	HNF-1B_C	282 → 540	Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus	Family
PF04813	HNF-1A_C	542 → 630	Hepatocyte nuclear factor 1 (HNF-1), alpha isoform C terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Liver.

Sequence

MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAEL
PNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVK
SYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTHA
GQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE
CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALP
AHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSH
SLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQPQNLIMASLPGVMTIGPGEPA
SLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV
QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTK
QVFTSDTEASSESGLHTPASQATTLHVPSQDPAGIQHLQPAHRLSASPTVSSSSLVLYQS
SDSSNGQSHLLPSNHSVIETFISTQMASSSQ

Sequence length

631

Interactions

View interactions

	KEGG
	Maturity onset diabetes of the young

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Diabetes Mellitus	Diabetes mellitus type 1, Maturity-onset diabetes of the young type 3, diabetes mellitus, Type 1 diabetes mellitus 20	rs587780357, rs193922588, rs765432081, rs2135847417, rs587776825, rs137853238, rs137853243, rs386134267, rs1565886545, rs193922576, rs1555212359, rs1057520291, rs1057520504, rs193922604, rs1593060859 View all (35 more)	N/A
Hyperinsulinism	hyperinsulinism due to hnf1a deficiency	rs137853245	N/A
Mason type diabetes	maturity onset diabetes mellitus in young	rs137853237, rs1593054210, rs1555212749, rs1565885935, rs1463923467, rs1555211426, rs193922596, rs193922600, rs1565887211, rs1555211904, rs1555212248, rs587780357, rs1592897526, rs1555212363, rs1565883507 View all (54 more)	N/A
Monogenic Diabetes	monogenic diabetes	rs1555212248, rs1057520291, rs193922588, rs1555211436, rs1057520504, rs193922600, rs1555211975, rs137853238, rs587780357, rs771108132, rs1565883507, rs137853243, rs386134267, rs765432081, rs193922576 View all (45 more)	N/A
DiGeorge Syndrome	digeorge syndrome	rs587776825	N/A
neoplasm	Neoplasm	rs1593060859	N/A

Show/Hide Unknown Diseases (18)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Asthma onset (childhood vs adult), Asthma, Asthma (age of onset), Asthma (childhood onset), Atopic asthma	N/A	N/A	GWAS
Breast cancer	Breast cancer (triple negative or BRCA1-positive)	N/A	N/A	GWAS
Breast Carcinoma	breast carcinoma	N/A	N/A	ClinVar
Cholecystitis	Cholecystitis	N/A	N/A	GWAS
Cholelithiasis	Cholelithiasis	N/A	N/A	GWAS
Chromophobe Carcinoma	chromophobe renal cell carcinoma	N/A	N/A	ClinVar
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Coronary Heart Disease	Coronary heart disease	N/A	N/A	GWAS
Gout	Gout	N/A	N/A	GWAS
Hypogonadism	Hypogonadism	N/A	N/A	GWAS
Insulin-resistant diabetes mellitus	insulin-resistant diabetes mellitus	N/A	N/A	ClinVar
Ischemic Stroke	Ischemic stroke	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar
Ovarian cancer	Epithelial ovarian cancer	N/A	N/A	GWAS
Pancreatic adenocarcinoma	Pancreatic ductal adenocarcinoma	N/A	N/A	GWAS
Papillary Renal Carcinoma	nonpapillary renal cell carcinoma	N/A	N/A	GenCC
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (130)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abnormalities Drug Induced	Associate	21677039
Adenocarcinoma	Associate	24000294, 33024199, 33094962
Adenoma	Associate	17049664, 34232602
Adenoma	Inhibit	27015136
Adenoma Liver Cell	Associate	16496320, 17049664, 17379603, 20393147, 21975049, 23707370, 26776850, 26961851, 26997447, 27197745, 29256857, 30121369, 31483937, 31570768
Adenomatosis Pulmonary	Associate	18720549
Adenomatous Polyposis Coli	Associate	17049664
alpha 1 Antitrypsin Deficiency	Associate	26174136
alpha Fetoprotein Deficiency	Associate	31915469
Anodontia	Associate	27197745
Ataxia	Associate	33783914
Barrett Esophagus	Associate	19468668, 22016432
Bartter Syndrome Type 3 with Hypocalciuria	Associate	19389850
beta Thalassemia	Associate	19228875
Bipolar Disorder	Associate	36463340
Blood Coagulation Disorders	Associate	20031592
Brain Neoplasms	Associate	23707370, 37423059
Breast Neoplasms	Stimulate	32928877
Carcinogenesis	Associate	24000294, 25793983, 26997447, 38062804
Carcinogenesis	Inhibit	34037532
Carcinoid Tumor	Associate	39581377
Carcinoma Hepatocellular	Associate	1331985, 21975049, 23391410, 23707370, 25516669, 26205181, 26997447, 27469031, 29256857, 30121369, 30155490, 30602592, 31173963, 31570105, 31915469 View all (4 more)
Carcinoma Non Small Cell Lung	Associate	27981551, 28230015
Carcinoma Pancreatic Ductal	Associate	27520560, 35121522, 36825600, 40149962
Carcinoma Pancreatic Ductal	Stimulate	33214606
Carcinoma Renal Cell	Associate	36510186
Cerebral Infarction	Associate	27460564, 28035729
Cerebral Small Vessel Diseases	Associate	27460564
Cholangiocarcinoma	Associate	35550144
Cholelithiasis	Associate	40428345
Colonic Neoplasms	Associate	15492751
Colonic Neoplasms	Stimulate	38062804
Colorectal Neoplasms	Associate	10514393, 20096102, 35184384, 36230970, 38062804
Colorectal Neoplasms	Stimulate	34719039
Congenital Abnormalities	Associate	34035238
Congenital Hyperinsulinism	Associate	22802087, 23345197, 23869231, 29739729
Coronary Artery Disease	Associate	19198612, 20031592, 25057215, 26209006, 28035729, 33004870, 35866398, 40485517
Coronary Artery Disease	Stimulate	26209006
Coronary Disease	Associate	20031592, 21203500, 22152955
Crigler Najjar Syndrome	Associate	31142299
Crigler Najjar syndrome type 2	Associate	31142299
Cytomegalovirus Infections	Associate	34253456
Dehydration	Associate	23610083
Developmental Disabilities	Associate	22523087
Diabetes Gestational	Associate	29947923, 31825269
Diabetes Mellitus	Associate	11904371, 12453420, 18297260, 18586913, 18829458, 19490620, 19933992, 20581827, 20705777, 20716378, 22413961, 22665711, 22802087, 22859960, 23274891 View all (51 more)
Diabetes Mellitus	Stimulate	32238361, 34250910
Diabetes Mellitus Type 1	Associate	18593771, 19228875, 21700917, 25082184, 28938416, 29597128, 30507613, 31365591, 36418577, 40004501
Diabetes Mellitus Type 2	Associate	10585442, 10606640, 10696112, 11296231, 11904371, 15139733, 15687377, 16223942, 16936201, 18297260, 18391435, 18439548, 18492944, 18498634, 18586913 View all (81 more)
Diabetes Mellitus Type 2	Stimulate	32238361
Diabetes Mellitus Type 2	Inhibit	37669939
Diabetic Ketoacidosis	Associate	23610083, 25837654
Diabetic Neuropathies	Associate	23551881, 35122907
Down Syndrome	Associate	28590426
Dyslipidemias	Associate	25057215, 35957821
Familial cylindromatosis	Associate	24000294
Fatty Liver	Associate	16496320, 17379603, 21975049
Fibrolamellar hepatocellular carcinoma	Associate	27015136
Fibrosis	Associate	31992114
Gastro enteropancreatic neuroendocrine tumor	Associate	34037532
Glaucoma Open Angle	Associate	36727359
Glioblastoma	Associate	26817999, 31410187
Glucose Metabolism Disorders	Associate	22993150
Gout	Associate	35524416
Granuloma Annulare	Associate	35551682
Hemangioblastoma	Associate	36510186
Hemorrhage	Associate	31483937
Hepatic Adenomas Familial	Associate	25569436, 27015136, 34232602
Hepatitis B Chronic	Associate	16254374
Hepatitis C	Inhibit	22993150
Hepatoblastoma	Associate	33368532
Hyperglycemia	Associate	20705777, 31576961, 36178555
Hyperinsulinism	Associate	22802087, 25555642, 29493090
Hyperlipidemias	Associate	35866398
Hypertension	Associate	25057215
Hypertriglyceridemia	Associate	19490620, 25057215
Hypoglycemia	Associate	22341299
Hypomagnesemia primary	Associate	19389850
Hypoxia Brain	Associate	31410187
Immunologic Deficiency Syndromes	Associate	35918471
Inflammation	Associate	20113359, 21203500, 33334146
Insulin Resistance	Associate	11904371, 32375679, 34951657
Insulinoma	Associate	8945471, 9822613
Kidney Neoplasms	Associate	33328429
Leukopenia	Associate	34253456
Lipid Metabolism Disorders	Associate	16223942
Liver Failure	Associate	21975049, 29067470, 34949673
Liver Neoplasms	Associate	30155490
Lung Neoplasms	Associate	28230015, 8096192
Lymphatic Metastasis	Associate	27981551
Lymphatic Metastasis	Stimulate	29762827
Malformations of Cortical Development Group I	Associate	39273406
Mason Type Diabetes	Associate	10585442, 15139733, 16223942, 18492944, 18593771, 19672314, 19794065, 20705777, 21242637, 21270186, 21498636, 21677039, 21700917, 23274891, 23306198 View all (11 more)
Mason Type Diabetes	Stimulate	20724646, 39420905
Maturity Onset Diabetes of the Young Type 1	Associate	30191603
Maturity Onset Diabetes of the Young Type 2	Associate	22341299
Maturity Onset Diabetes of the Young Type 3	Associate	10606640, 11296231, 15687377, 18593771, 19754856, 20393147, 21236713, 21677039, 22413961, 22432796, 22672869, 23607861, 23707370, 24915262, 25569436 View all (13 more)
Maturity Onset Diabetes of the Young Type 8 with Exocrine Dysfunction	Associate	18593771
Meningioma	Associate	18297260
Metabolic Syndrome	Associate	18439548, 26174136, 27142837
Muscle Hypotonia	Associate	33783914
Myotonic Dystrophy	Associate	31576961
Necrobiosis Lipoidica	Associate	35551682
Neoplasm Metastasis	Associate	28230015, 33214606, 33371430, 34719039
Neoplasm Metastasis	Inhibit	34037532
Neoplasms	Associate	14633602, 18433021, 21203500, 26205181, 26776850, 26997447, 27469031, 27981551, 29324546, 29762827, 30121369, 33752475, 35184384, 36230970, 36825600, 40311306 View all (1 more)
Neoplasms	Inhibit	25233928, 25793983, 35327967
Neuroendocrine Tumors	Associate	23127113, 30315258
Non alcoholic Fatty Liver Disease	Associate	27836672
Obesity	Associate	24062323, 30764545
Pancreatic Neoplasms	Associate	21498636, 23056513, 25233928, 25793983, 25910082, 26854454, 27520560, 29107594, 33371430, 36825600, 40149962
Pancreatic Neoplasms	Inhibit	28938416, 33214606
Pancreatic Neoplasms	Stimulate	32072180
Pancreatitis	Associate	35257744
Pancreatitis Chronic	Associate	28556356, 34828289
Polycystic Ovary Syndrome	Associate	28299548
Pre Eclampsia	Associate	31825269
Rectal Neoplasms	Associate	38062804
Renal cysts and diabetes syndrome	Associate	22432796
Renal hypouricemia	Stimulate	32375679
Renal Insufficiency	Associate	31844173
Smoke Inhalation Injury	Associate	35866398
Squamous Cell Carcinoma of Head and Neck	Associate	30404566, 33315534
Stomach Diseases	Inhibit	34037532
Stomach Neoplasms	Associate	26472090, 28640116, 36430456
Thrombosis	Associate	33334146
Triple Negative Breast Neoplasms	Associate	28590426
Urinary Bladder Neoplasms	Stimulate	29762827
Uterine Cervical Neoplasms	Associate	36380687
Vascular Diseases	Associate	20716378

HNF1A (HNF1 homeobox A)