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	6928
Gene name	HNF1 homeobox B
Gene symbol	HNF1B
Synonyms (NCBI Gene)	ADTKD3FJHNHNF-1-betaHNF-1BHNF1betaHNF2HPC11LF-B3LFB3MODY5RCADT2DTCF-2TCF2VHNF1
Chromosome	17
Chromosome location	17q12
Summary	This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141166864	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Intron variant
rs764042837	G>-,GG	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs886041820	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555833071	TCGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555833144	C>-	Pathogenic	Stop gained, coding sequence variant
rs1598806177	->AGGGCTGC	Pathogenic	Frameshift variant, coding sequence variant, intron variant, genic downstream transcript variant
rs1598840773	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1598840795	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1598840996	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1598841082	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1598842886	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1598842892	CCC>-,CCCC	Pathogenic	Inframe deletion, frameshift variant, coding sequence variant
rs1598848672	CAGAGC>AGGGG	Pathogenic	Frameshift variant, coding sequence variant
rs1598848762	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1598854261	ATCCGGTCCACCTCCGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598854747	->G	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (37)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024651	hsa-miR-215-5p	Microarray	19074876
MIRT026957	hsa-miR-192-5p	Microarray	19074876
MIRT755748	hsa-miR-217	Luciferase reporter assayWestern blottingqRT-PCRFlow cytometry	35046625
MIRT1050546	hsa-miR-3157-5p	CLIP-seq
MIRT1050547	hsa-miR-3665	CLIP-seq
MIRT1050548	hsa-miR-378g	CLIP-seq
MIRT1050549	hsa-miR-4257	CLIP-seq
MIRT1050550	hsa-miR-4685-5p	CLIP-seq
MIRT1050551	hsa-miR-4690-3p	CLIP-seq
MIRT1050552	hsa-miR-4713-3p	CLIP-seq
MIRT1050553	hsa-miR-4749-3p	CLIP-seq
MIRT1050554	hsa-miR-520a-5p	CLIP-seq
MIRT1050555	hsa-miR-525-5p	CLIP-seq
MIRT1050556	hsa-miR-764	CLIP-seq
MIRT1050557	hsa-miR-181a	CLIP-seq
MIRT1050558	hsa-miR-181b	CLIP-seq
MIRT1050559	hsa-miR-181c	CLIP-seq
MIRT1050560	hsa-miR-181d	CLIP-seq
MIRT1050546	hsa-miR-3157-5p	CLIP-seq
MIRT1050561	hsa-miR-4262	CLIP-seq
MIRT1050550	hsa-miR-4685-5p	CLIP-seq
MIRT1050551	hsa-miR-4690-3p	CLIP-seq
MIRT1050553	hsa-miR-4749-3p	CLIP-seq
MIRT1050562	hsa-miR-603	CLIP-seq
MIRT2011608	hsa-miR-2115	CLIP-seq
MIRT2011609	hsa-miR-22	CLIP-seq
MIRT2011610	hsa-miR-2277-3p	CLIP-seq
MIRT2011611	hsa-miR-3977	CLIP-seq
MIRT2011612	hsa-miR-516a-3p	CLIP-seq
MIRT2011613	hsa-miR-876-3p	CLIP-seq
MIRT2011608	hsa-miR-2115	CLIP-seq
MIRT2243775	hsa-miR-24	CLIP-seq
MIRT2243776	hsa-miR-3129-3p	CLIP-seq
MIRT2011611	hsa-miR-3977	CLIP-seq
MIRT2243777	hsa-miR-4277	CLIP-seq
MIRT2243778	hsa-miR-4284	CLIP-seq
MIRT2011612	hsa-miR-516a-3p	CLIP-seq

Show/Hide all (74)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	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	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	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001221	Function	Transcription coregulator binding	IPI	15509593
GO:0001714	Process	Endodermal cell fate specification	IEA
GO:0001822	Process	Kidney development	IDA	21281489
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	IMP	10720943, 16801329
GO:0001826	Process	Inner cell mass cell differentiation	IEA
GO:0001889	Process	Liver development	IEA
GO:0001889	Process	Liver development	IEA
GO:0003677	Function	DNA binding	IDA	1677179
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	15509593, 16297991
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	1677179, 20211142, 21281489, 32296183, 33961781, 35140242
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15355349, 15509593
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0009749	Process	Response to glucose	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030111	Process	Regulation of Wnt signaling pathway	IEA
GO:0030902	Process	Hindbrain development	IEA
GO:0031016	Process	Pancreas development	IEA
GO:0031018	Process	Endocrine pancreas development	IMP	16801329
GO:0035565	Process	Regulation of pronephros size	IMP	15355349
GO:0039020	Process	Pronephric nephron tubule development	IGI	15355349
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	1677179
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	15509593, 16297991, 21281489
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048557	Process	Embryonic digestive tract morphogenesis	IEA
GO:0048731	Process	System development	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0048793	Process	Pronephros development	IMP	15355349
GO:0048806	Process	Genitalia development	IMP	16801329
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IDA	15355349
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0060429	Process	Epithelium development	IEA
GO:0060677	Process	Ureteric bud elongation	IEA
GO:0060993	Process	Kidney morphogenesis	IEA
GO:0061017	Process	Hepatoblast differentiation	IEA
GO:0061296	Process	Negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis	IEA
GO:0072095	Process	Regulation of branch elongation involved in ureteric bud branching	IEA
GO:0072164	Process	Mesonephric tubule development	IEA
GO:0072176	Process	Nephric duct development	IEA
GO:0072177	Process	Mesonephric duct development	IEA
GO:0072179	Process	Nephric duct formation	IEA
GO:0072181	Process	Mesonephric duct formation	IEA
GO:1900200	Process	Mesenchymal cell apoptotic process involved in metanephros development	IEA
GO:1900212	Process	Negative regulation of mesenchymal cell apoptotic process involved in metanephros development	IEA
GO:1990841	Function	Promoter-specific chromatin binding	IEA

MIM	HGNC	e!Ensembl
189907	11630	ENSG00000275410

P35680

Protein name

Hepatocyte nuclear factor 1-beta (HNF-1-beta) (HNF-1B) (Homeoprotein LFB3) (Transcription factor 2) (TCF-2) (Variant hepatic nuclear factor 1) (vHNF1)

Protein function

Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:17924661, PubMed:7900999). Binds to the FPC element in the cAMP regulatory unit of the PLAU gene (By similarity). Transcriptional activity is increased by coa

PDB

2DA6 , 2H8R , 5K9S

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04814	HNF-1_N	8 → 174	Hepatocyte nuclear factor 1 (HNF-1), N terminus	Family
PF04812	HNF-1B_C	314 → 550	Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus	Family

Sequence

MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKP
VFHTLTNGHAKGRLSGDEGSEDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWR
AAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREIL
RQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGP
ASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWF
ANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEI
TSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIH
SLSHHNPQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHS
PHQQPLMQQSPGSHMAQQPFMAAVTQLQNSHMYAHKQEPPQYSHTSRFPSAMVVTDTSSI
STLTNMSSSKQCPLQAW

Sequence length

557

Interactions

View interactions

	KEGG
	Maturity onset diabetes of the young

976

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia	Pathogenic	rs121918672	RCV001328308
Chromophobe renal cell carcinoma	Pathogenic	rs587776771	RCV000013483
Congenital anomaly of kidney and urinary tract	Likely pathogenic; Pathogenic	rs121918674	RCV001328307
HNF1B-related disorder	Pathogenic; Likely pathogenic	rs193922486, rs1568670479, rs2511701125, rs2511709958, rs2511808486, rs914046953, rs1568670481, rs2511801587, rs121918672, rs2511828535	RCV004753563 RCV003390678 RCV003402173 RCV003404563 RCV003982645 RCV004752990 RCV004753005 RCV003396364 RCV003411728 RCV003411729
Hyperechogenic kidneys	Likely pathogenic; Pathogenic	rs2511801868, rs1568670479, rs764561297	RCV003106062 RCV003106063 RCV003106163
Hyperuricemic nephropathy, familial juvenile type 3	Pathogenic	rs1555833071	RCV000515142
Maturity-onset diabetes of the young	Pathogenic; Likely pathogenic	rs193922486, rs886041820, rs121918672, rs121918675, rs1057517744, rs1057524479, rs1555833071, rs193922482, rs193922488, rs1555833144, rs1568670481, rs1598806177, rs1598809747, rs1598815016, rs1598840773 View all (16 more)	RCV002464978 RCV002464156 RCV004689416 RCV002051783 RCV002348127 RCV002464197 RCV002465696 RCV002464083 RCV002464087 RCV002465738 RCV002343589 RCV002465772 RCV002464315 RCV002464316 RCV002465773 RCV002465774 RCV004629323 RCV002465775 RCV002464317 RCV002464318 RCV002465776 RCV002465777 RCV002465804 RCV002464356 RCV002465856 RCV002464420 RCV002464422 RCV002465857 RCV002464421 RCV002464430 RCV002465859
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2147553451, rs2147473703, rs1800575, rs121918672, rs1568670479, rs121918675, rs2511830105, rs1057517744, rs193922489, rs1568670481, rs2511723972, rs2511801868, rs2511802259, rs121918674, rs2511850923, rs1555830002 View all (1 more)	RCV002492130 RCV002503424 RCV002496342 RCV002496343 RCV002504781 RCV002482860 RCV004796809 RCV005010306 RCV002477029 RCV002499296 RCV005012307 RCV002493434 RCV005021177 RCV002501024 RCV002501025 RCV002487620
Renal cysts and diabetes syndrome	Pathogenic; Likely pathogenic	rs2147457839, rs2147553451, rs2147473703, rs2147553490, rs2511849287, rs193922486, rs886043903, rs2511829328, rs1405279061, rs1057519371, rs2511801331, rs2511829635, rs1555830002, rs886041820, rs2511828229 View all (171 more)	RCV001849655 RCV002492130 RCV002503424 RCV002221391 RCV003225990 RCV005429081 RCV002471376 RCV002470589 RCV002776551 RCV000416588 RCV002790016 RCV003148509 RCV000787141 RCV000787216 RCV003333391 RCV003335835 RCV000013470 RCV000013473 RCV000013475 RCV000013477 RCV000013478 RCV000013479 RCV000013480 RCV000013482 RCV000787258 RCV003444161 RCV003454377 RCV003991117 RCV003991326 RCV004546894 RCV004545964 RCV004566437 RCV004566439 RCV004566475 RCV004555310 RCV004555333 RCV004595179 RCV004595346 RCV000787179 RCV000787057 RCV000787150 RCV000787243 RCV000787228 RCV000030520 RCV000030526 RCV000030529 RCV000030530 RCV000030531 RCV000625564 RCV000787129 RCV000787144 RCV000787168 RCV001281137 RCV000787211 RCV005414331 RCV000787187 RCV000787054 RCV000787058 RCV000787060 RCV000787061 RCV000787062 RCV000787065 RCV000787066 RCV000787067 RCV000787069 RCV000787070 RCV000787071 RCV000787072 RCV000787076 RCV000787077 RCV000787078 RCV000787079 RCV000787080 RCV000787087 RCV000787086 RCV000787088 RCV000787089 RCV000787090 RCV000787093 RCV000787094 RCV000787096 RCV000787101 RCV000787102 RCV000787103 RCV000787106 RCV000787107 RCV000787108 RCV000787109 RCV000787110 RCV000787112 RCV000787113 RCV000787115 RCV000787116 RCV000787117 RCV000787118 RCV000787119 RCV000787120 RCV000991307 RCV000787123 RCV000787124 RCV000787125 RCV000787126 RCV000787127 RCV000787130 RCV000787131 RCV000787132 RCV000787134 RCV000787133 RCV000787136 RCV000787137 RCV000787138 RCV000787143 RCV000787145 RCV000787148 RCV000787149 RCV000787151 RCV000787152 RCV000787153 RCV000787154 RCV000787156 RCV000787263 RCV000787157 RCV000787158 RCV000787159 RCV000787160 RCV000787161 RCV000787165 RCV000787180 RCV000787182 RCV000787183 RCV000787184 RCV000787186 RCV001281136 RCV000787190 RCV000787192 RCV000787194 RCV001281301 RCV000787196 RCV000787197 RCV000787198 RCV000787199 RCV000787202 RCV000787203 RCV000787200 RCV000787204 RCV000787205 RCV000787206 RCV000787207 RCV000787208 RCV001281300 RCV000787212 RCV000787213 RCV000787214 RCV000787215 RCV000787217 RCV000787218 RCV000787219 RCV000787220 RCV000787221 RCV000787222 RCV000787223 RCV000787224 RCV000787230 RCV000787231 RCV000787232 RCV000787233 RCV000787234 RCV000787237 RCV000787238 RCV000787236 RCV000787239 RCV000787240 RCV000787242 RCV000787244 RCV000787247 RCV000787248 RCV000787250 RCV000787249 RCV000787255 RCV000787257 RCV000787260 RCV000787261 RCV000787262 RCV000787053 RCV000787073 RCV000787083 RCV000787084 RCV000787082 RCV000787085 RCV000787097 RCV000787098 RCV000787099 RCV000787139 RCV000787142 RCV001280821 RCV000787171 RCV000787173 RCV000787172 RCV000787176 RCV000787226 RCV000787227 RCV000853505 RCV001004893 RCV001281138 RCV001281135 RCV001281298 RCV001251492 RCV001251471 RCV001251467 RCV001258111 RCV001262003
See cases	Pathogenic	rs1057517744	RCV004797807
Type 2 diabetes mellitus	Likely pathogenic; Pathogenic	rs2147553451, rs2147473703, rs193922486, rs1800575, rs121918672, rs1568670479, rs121918675, rs2511830105, rs1057517744, rs193922489, rs1568670481, rs2511723972, rs2511801868, rs2511802259, rs1598842892 View all (3 more)	RCV002492130 RCV002503424 RCV005429081 RCV002496342 RCV002496343 RCV002504781 RCV002466400 RCV004796809 RCV005010306 RCV002477029 RCV002499296 RCV005012307 RCV002493434 RCV005021177 RCV003884728 RCV002501024 RCV001029833 RCV002487620

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal dominant polycystic liver disease	Uncertain significance; Conflicting classifications of pathogenicity	rs748416956, rs140562402, rs147816724, rs193922493	RCV001844931 RCV001844814 RCV001844831 RCV001844804
Diabetes mellitus	Uncertain significance	rs986828416	RCV005250324
Monogenic diabetes	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Uncertain risk allele	rs140562402, rs8068014, rs147816724, rs375644184, rs757452269, rs1555833051, rs1352906725, rs2032897142	RCV001174365 RCV000445437 RCV000664148 RCV000664145 RCV000664146 RCV000664147 RCV001174363 RCV001174364
Ovarian cancer	Benign; Conflicting classifications of pathogenicity	rs2511852824, rs121918673	RCV003154697 RCV003153303

Show/Hide Text Mining Associations (173)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Pain	Associate	37052076
Abidi X linked mental retardation syndrome	Associate	28737528
Acute Kidney Injury	Associate	35038894, 39696008
Adenocarcinoma	Associate	25884453
Adenocarcinoma Clear Cell	Stimulate	17270029
Adenocarcinoma Clear Cell	Associate	17270029
Adenocarcinoma Mucinous	Associate	29851704, 30258209
Adenoma	Associate	21438902
Alkalosis	Associate	34931465
Anemia Aplastic	Associate	11085914
Autism Spectrum Disorder	Associate	21055719, 36700567
Barrett Esophagus	Associate	7734326
Bile Duct Diseases	Associate	28324003, 30250217
Biliary Atresia	Associate	40366121
Brain Neoplasms	Associate	26311117
Breast Neoplasms	Associate	19250546, 30457165
Cakut	Associate	18846391, 20378641, 23539225, 24429398, 26489027, 27297286, 27657687, 28440405, 33942272
Carcinogenesis	Associate	26311117, 32873863
Carcinoma	Associate	21438902
Carcinoma Adenosquamous	Associate	30258209
Carcinoma Basal Cell	Associate	37713813
Carcinoma Ductal	Stimulate	18536653
Carcinoma Hepatocellular	Associate	23203386, 26311117, 34086854, 36572455, 8288579
Carcinoma Ovarian Epithelial	Associate	23535649, 23535730
Carcinoma Pancreatic Ductal	Associate	27520560, 34031415
Carcinoma Papillary	Associate	21438902
Carcinoma Renal Cell	Associate	10720943, 14633622, 16258507, 21438902, 22977660, 23535649, 24023729, 24040285, 24115587, 29910688, 31361605, 32488808, 32561848, 33051485, 33850477, 36681680 View all (1 more)
Carcinoma Renal Cell	Stimulate	18536653
Carcinoma Squamous Cell	Associate	25884453, 37443495
Cardiovascular Abnormalities	Associate	25510704
Cardiovascular Diseases	Associate	31860786
Cataract	Associate	25754277
Chemical and Drug Induced Liver Injury	Associate	15930087, 37052076
Cholangiocarcinoma	Associate	27280413, 34086854
Choledochal Cyst	Associate	28324003
Chromosome Deletion	Associate	36922632
Chromosome Deletion	Inhibit	37016461
Chromosome Disorders	Associate	21055719
Chromosome Duplication	Associate	25510704
Chronic Kidney Disease Mineral and Bone Disorder	Associate	40013955
Colonic Neoplasms	Associate	39738645
Colorectal Neoplasms	Associate	32488808, 39738645
Congenital Abnormalities	Associate	27297286, 28324003
Congenital contractural arachnodactyly	Associate	34086854
Congenital thrombotic disease due to Protein C deficiency	Associate	36511816
Coronary Aneurysm	Associate	31500578
Cysts	Associate	11918730, 15930087, 17878605, 22269832, 26022541, 31066763, 32756155, 35992134, 37052076, 39337310, 40013955
Cysts	Stimulate	26318292
Daneman Davy Mancer syndrome	Associate	23539225
Death	Associate	23203386
Developmental Disabilities	Associate	12675839, 30021660
Diabetes Mellitus	Associate	10720943, 11085914, 11918730, 12675839, 12911528, 15930087, 17924661, 19324937, 19627283, 19844256, 19998368, 20378641, 21380624, 25754277, 27271189 View all (26 more)
Diabetes Mellitus Permanent Neonatal	Associate	31441606
Diabetes Mellitus Type 1	Associate	29764441, 36418577
Diabetes Mellitus Type 2	Associate	10224045, 10720943, 12675839, 15930087, 16936201, 17924346, 18426861, 19168595, 19324937, 19558691, 19844256, 20161779, 20509872, 20526366, 20644627 View all (45 more)
Diabetic Ketoacidosis	Associate	34931465, 35992134
Diabetic Nephropathies	Associate	29764441
Diabetic Neuropathies	Associate	35992134
Diaphanospondylodysostosis	Associate	29910688
Disease	Associate	26022541
Dizziness	Associate	37052076
Echogenic Bowel	Associate	26022541
Endodermal Sinus Tumor	Associate	32561848
Endometrial Neoplasms	Associate	21499250, 22299039, 24096698, 25378557, 25885815, 26030369
Endometriosis	Associate	16258507, 22977660, 26030369, 32802844
Familial duodenal atresia	Associate	32028929
Familial paroxysmal dystonia	Associate	22034641
Fatigue	Associate	37052076
Genetic Diseases Inborn	Associate	24886545, 31441606, 37052076
Genital Diseases	Associate	20378641
Genital Neoplasms Female	Associate	24040285
Genitourinary Tract Anomalies	Associate	37016461, 37052076
Genomic Instability	Associate	25893603
Gitelman Syndrome	Associate	34607911, 36759045
Glioma	Associate	28219405
Glomerulosclerosis Focal Segmental	Associate	31096240
Glucose Intolerance	Associate	11085914, 31825128, 39337310
Glutamyl Ribose 5 Phosphate Storage Disease	Associate	34721285
Glycosuria Renal	Associate	19389850, 22583611, 26022541, 34607911
Gout	Associate	12675839, 15930087
Growth Disorders	Associate	25754277
Hereditary Angioedema Types I and II	Associate	22299039
Hereditary renal agenesis	Associate	21380624, 22269832, 22583611
Hyperamylasemia	Associate	25754277
Hyperbilirubinemia	Associate	25754277
Hyperglycemia	Associate	19324937, 21421807, 31066763
Hyperlipidemias	Associate	30365659
Hyperparathyroidism	Associate	31500578
Hyperuricemia	Associate	12675839, 20378641
Hypoglycemia	Associate	35456451
Hypomagnesemia 2 renal	Associate	19389850, 28440405
Hypospadias	Associate	11918730
Hypoxia	Associate	37713813
Idiopathic Pulmonary Fibrosis	Associate	29851704
Infant Newborn Diseases	Associate	28324003
Insulin Resistance	Associate	25754277
Intellectual Disability	Associate	27218255
Intestinal Neoplasms	Inhibit	34997048
Juvenile gout	Associate	12675839, 18846391, 24886545
Ketosis	Associate	35899569
Kidney Diseases	Associate	10720943, 11085914, 11918730, 12911528, 15930087, 17878605, 17924346, 17924661, 18846391, 20378641, 22583611, 23159250, 25700310, 26022541, 27234567 View all (17 more)
Kidney Diseases	Stimulate	35038894
Kidney Diseases Cystic	Associate	11085914, 11918730, 12675839, 19844256, 28324003, 31825128, 36573973
Kidney Diseases Cystic	Stimulate	35899569
Kidney Failure Chronic	Associate	10720943, 12911528
Kidney Neoplasms	Associate	33051485, 38575066, 40013955
Liver Diseases	Associate	27389722
Liver Failure	Associate	34721285
Lung Neoplasms	Associate	24115587, 30894353
Lymphoma Large B Cell Diffuse	Associate	28841204
Mason Type Diabetes	Associate	10720943, 15930087, 25700310, 25754277, 31066763, 32756155, 34373539, 35179657, 39337310
Maturity Onset Diabetes of the Young Type 3	Associate	35235779
Mental Disorders	Associate	27234567, 32756155
Metabolic Diseases	Associate	30365659
Metabolic Syndrome	Associate	25754277
Mullerian aplasia	Associate	20797712, 37052076
Multicystic Dysplastic Kidney	Associate	17924346, 37052076
Multicystic renal dysplasia bilateral	Associate	28440405
Multiple System Atrophy	Associate	29574432
Muscular dystrophy congenital with central nervous system involvement	Associate	31481685
Neoplasms	Associate	20526366, 21438902, 22730461, 23203386, 23535649, 24040285, 25378557, 25885815, 26945423, 27732966, 29933751, 30894353, 31145284, 32488808, 32873863, 33173410, 34997048, 39738645, 7734326 View all (4 more)
Neoplasms	Stimulate	27001343, 31361605
Neoplasms	Inhibit	31636385, 33051485
Neoplasms Cystic Mucinous and Serous	Associate	19048126, 23535730, 24115587
Neoplasms Germ Cell and Embryonal	Associate	32561848
Obesity	Associate	29764441
Ovarian Diseases	Associate	22977660
Ovarian Neoplasms	Associate	14633622, 17270029, 19048126, 21131918, 23535649, 23535730, 24040285, 25884453, 26030369, 26318292, 26339401, 26910837, 26945423, 27732966, 28241454, 30109783, 32561848, 32635925 View all (3 more)
Ovarian Neoplasms	Stimulate	16258507
Pancreas agenesis dorsal	Associate	34721285, 37052076, 37737534, 39337310
Pancreas Divisum	Associate	37052076
Pancreatic Agenesis Congenital	Associate	31066763
Pancreatic Neoplasms	Associate	20378641, 36511816
Pancreatitis	Associate	15930087, 26022541, 26876668, 27297286, 29491316, 30778115, 31825128, 33526762, 34450036, 37052076
Pectus Carinatum	Associate	25754277
Pediatric acute onset neuropsychiatric syndrome	Associate	31481685
Polycystic Kidney Autosomal Recessive	Associate	33942272
Polycystic Kidney Diseases	Associate	22269832, 31056860, 35179657
Polypoidal Choroidal Vasculopathy	Associate	21055719
Prediabetic State	Associate	31066763
Prostatic Neoplasms	Associate	11798061, 18701471, 18758462, 19318432, 19558691, 19627283, 19998368, 20203524, 20526366, 20569440, 20651075, 21160077, 21499250, 21538423, 21576123 View all (16 more)
Prostatic Neoplasms	Inhibit	33174391
Prostatitis	Inhibit	32873863
Prostatitis	Associate	34997048
Recurrence	Inhibit	35346144
Renal and Mullerian Duct Hypoplasia	Associate	11918730
Renal cysts and diabetes syndrome	Associate	11085914, 12911528, 15930087, 17878605, 20378641, 21055719, 21775974, 22432796, 25360493, 25700310, 27297286, 29491316, 29574432, 30778115, 31391355 View all (12 more)
Renal dysplasia diffuse cystic	Associate	11918730
Renal Insufficiency	Associate	12911528, 20378641, 22269832, 25700310
Renal Insufficiency Chronic	Associate	25893603
Renal Insufficiency Chronic	Stimulate	35038894
Reproductive Tract Infections	Associate	11918730, 15930087, 30778115
Respiratory System Abnormalities	Associate	28324003
Schizophrenia Spectrum and Other Psychotic Disorders	Associate	28737528
Senior Loken Syndrome	Associate	11918730, 27297286, 32756155
Slow Virus Diseases	Associate	22269832
Splenomegaly	Associate	25754277
Stomach Neoplasms	Associate	29851704
Syndrome	Associate	37016461
Testicular Germ Cell Tumor	Associate	32561848
Thrombosis	Associate	24040285
Urinary Tract Infections	Associate	28440405
Urofacial syndrome	Associate	25754277
Urogenital Abnormalities	Associate	12911528, 27297286
Urologic Diseases	Associate	21380624
Usher syndrome type 1B	Associate	37737534
Uterine Cervical Neoplasms	Associate	25884453
Uterine Diseases	Associate	11918730, 15930087
Uterine Neoplasms	Associate	32461507
Venous Thrombosis	Stimulate	24040285
Ventricular Dysfunction Left	Associate	31860786
Wasting Syndrome	Associate	36759045
Water Electrolyte Imbalance	Associate	37052076, 40013955

HNF1B (HNF1 homeobox B)