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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3172
Gene name	Hepatocyte nuclear factor 4 alpha
Gene symbol	HNF4A
Synonyms (NCBI Gene)	FRTS4HNF4HNF4a7HNF4a8HNF4a9HNF4alphaMODYMODY1NR2A1NR2A21TCFTCF-14TCF14
Chromosome	20
Chromosome location	20q13.12
Summary	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expres

Show/Hide all (31)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853334	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs137853335	C>T	Pathogenic	Stop gained, coding sequence variant
rs137853336	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs137853337	G>A	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs137853338	T>G	Pathogenic	Coding sequence variant, missense variant
rs193922469	C>A,G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs193922470	G>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant, missense variant, coding sequence variant
rs193922474	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922475	ACGACCAGGTGAGGATGG>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs193922476	GCT>TCAA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922477	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922479	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs202105574	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs776489992	TGC>-,TGCTGC	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe insertion, inframe deletion
rs781364316	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1060499693	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1085307913	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1280663753	AGA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1375557127	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1392795567	G>A	Pathogenic	Splice donor variant
rs1555813267	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555815158	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555815393	T>A	Pathogenic	Stop gained, coding sequence variant
rs1555815396	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555816615	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555816642	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555816654	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555817727	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555817851	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568731279	G>A	Pathogenic	Splice acceptor variant
rs1600731198	A>-	Pathogenic	Splice acceptor variant

122

Show/Hide all (122)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assayqRT-PCRWestern blot	20018894
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assayqRT-PCRWestern blot	20018894
MIRT003355	hsa-miR-24-3p	Luciferase reporter assayqRT-PCRWestern blot	20018894
MIRT003355	hsa-miR-24-3p	Luciferase reporter assayqRT-PCRWestern blot	20018894
MIRT003355	hsa-miR-24-3p	Luciferase reporter assayqRT-PCRWestern blot	20018894
MIRT003355	hsa-miR-24-3p	Luciferase reporter assayqRT-PCRWestern blot	20018894
MIRT003355	hsa-miR-24-3p	Luciferase reporter assayqRT-PCRWestern blot	20018894
MIRT003355	hsa-miR-24-3p	Luciferase reporter assayqRT-PCRWestern blot	20018894
MIRT003355	hsa-miR-24-3p	Luciferase reporter assayqRT-PCRWestern blot	20018894
MIRT003822	hsa-miR-197-3p	Microarray	16822819
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22232426
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22232426
MIRT006262	hsa-miR-449a	Luciferase reporter assayWestern blot	22232426
MIRT006262	hsa-miR-449a	Luciferase reporter assayWestern blot	22232426
MIRT006263	hsa-miR-34c-5p	Luciferase reporter assay	22232426
MIRT006264	hsa-miR-766-3p	Luciferase reporter assay	22232426
MIRT006265	hsa-miR-34b-5p	Luciferase reporter assay	22232426
MIRT006266	hsa-miR-765	Luciferase reporter assay	22232426
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22232426
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22232426
MIRT006262	hsa-miR-449a	Luciferase reporter assayWestern blot	22232426
MIRT006264	hsa-miR-766-3p	Luciferase reporter assay	22232426
MIRT006265	hsa-miR-34b-5p	Luciferase reporter assay	22232426
MIRT003355	hsa-miR-24-3p	ELISAFlowImmunohistochemistryImmunoprecipitaionIn situ hybridizationLuciferase reporter assayMicroarrayqRT-PCRWestern blot	22153071
MIRT006542	hsa-miR-629-5p	ELISAFlowImmunohistochemistryImmunoprecipitaionIn situ hybridizationLuciferase reporter assayMicroarrayqRT-PCRWestern blot	22153071
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22232426
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22232426
MIRT006262	hsa-miR-449a	Luciferase reporter assayWestern blot	22232426
MIRT006264	hsa-miR-766-3p	Luciferase reporter assay	22232426
MIRT006265	hsa-miR-34b-5p	Luciferase reporter assay	22232426
MIRT003355	hsa-miR-24-3p	ELISAFlowImmunohistochemistryImmunoprecipitaionIn situ hybridizationLuciferase reporter assayMicroarrayqRT-PCRWestern blot	22153071
MIRT006542	hsa-miR-629-5p	ELISAFlowImmunohistochemistryImmunoprecipitaionIn situ hybridizationLuciferase reporter assayMicroarrayqRT-PCRWestern blot	22153071
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assay	23298640
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assay	23298640
MIRT006263	hsa-miR-34c-5p	Luciferase reporter assay	23298640
MIRT006263	hsa-miR-34c-5p	Luciferase reporter assay	23298640
MIRT006262	hsa-miR-449a	Luciferase reporter assay	23298640
MIRT006262	hsa-miR-449a	Luciferase reporter assay	23298640
MIRT438817	hsa-miR-143-3p	Luciferase reporter assay	23298640
MIRT438817	hsa-miR-143-3p	Luciferase reporter assay	23298640
MIRT438816	hsa-miR-216a-5p	Luciferase reporter assay	23298640
MIRT438816	hsa-miR-216a-5p	Luciferase reporter assay	23298640
MIRT438816	hsa-miR-216a-5p	Luciferase reporter assay	23298640
MIRT438816	hsa-miR-216a-5p	Luciferase reporter assay	23298640
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assay	23298640
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assay	23298640
MIRT006263	hsa-miR-34c-5p	Luciferase reporter assay	23298640
MIRT006263	hsa-miR-34c-5p	Luciferase reporter assay	23298640
MIRT006262	hsa-miR-449a	Luciferase reporter assay	23298640
MIRT006262	hsa-miR-449a	Luciferase reporter assay	23298640
MIRT438817	hsa-miR-143-3p	Luciferase reporter assay	23298640
MIRT438817	hsa-miR-143-3p	Luciferase reporter assay	23298640
MIRT438816	hsa-miR-216a-5p	Luciferase reporter assay	23298640
MIRT438816	hsa-miR-216a-5p	Luciferase reporter assay	23298640
MIRT438816	hsa-miR-216a-5p	Luciferase reporter assay	23298640
MIRT438816	hsa-miR-216a-5p	Luciferase reporter assay	23298640
MIRT718664	hsa-miR-488-5p	HITS-CLIP	19536157
MIRT718663	hsa-miR-520a-5p	HITS-CLIP	19536157
MIRT718662	hsa-miR-525-5p	HITS-CLIP	19536157
MIRT718661	hsa-miR-5590-5p	HITS-CLIP	19536157
MIRT718660	hsa-miR-4659a-5p	HITS-CLIP	19536157
MIRT718659	hsa-miR-4659b-5p	HITS-CLIP	19536157
MIRT718658	hsa-miR-3180-5p	HITS-CLIP	19536157
MIRT718657	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT718656	hsa-miR-4776-3p	HITS-CLIP	19536157
MIRT003356	hsa-miR-34a-5p	qRT-PCRWestern blot	27135744
MIRT718664	hsa-miR-488-5p	HITS-CLIP	19536157
MIRT718663	hsa-miR-520a-5p	HITS-CLIP	19536157
MIRT718662	hsa-miR-525-5p	HITS-CLIP	19536157
MIRT718661	hsa-miR-5590-5p	HITS-CLIP	19536157
MIRT718660	hsa-miR-4659a-5p	HITS-CLIP	19536157
MIRT718659	hsa-miR-4659b-5p	HITS-CLIP	19536157
MIRT718658	hsa-miR-3180-5p	HITS-CLIP	19536157
MIRT718657	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT718656	hsa-miR-4776-3p	HITS-CLIP	19536157
MIRT756217	hsa-miR-122-3p	Luciferase reporter assayWestern blottingqRT-PCR	36449366
MIRT1050563	hsa-miR-1255a	CLIP-seq
MIRT1050564	hsa-miR-1255b	CLIP-seq
MIRT1050565	hsa-miR-1908	CLIP-seq
MIRT1050566	hsa-miR-3141	CLIP-seq
MIRT1050567	hsa-miR-3151	CLIP-seq
MIRT1050568	hsa-miR-3180	CLIP-seq
MIRT1050569	hsa-miR-3180-3p	CLIP-seq
MIRT1050570	hsa-miR-3196	CLIP-seq
MIRT1050571	hsa-miR-3616-3p	CLIP-seq
MIRT1050572	hsa-miR-3656	CLIP-seq
MIRT1050573	hsa-miR-4481	CLIP-seq
MIRT1050574	hsa-miR-4706	CLIP-seq
MIRT1050575	hsa-miR-4710	CLIP-seq
MIRT1050576	hsa-miR-4721	CLIP-seq
MIRT1050577	hsa-miR-4745-5p	CLIP-seq
MIRT1050578	hsa-miR-4749-5p	CLIP-seq
MIRT1050579	hsa-miR-4802-3p	CLIP-seq
MIRT1050580	hsa-miR-490-5p	CLIP-seq
MIRT1050581	hsa-miR-493	CLIP-seq
MIRT1050582	hsa-miR-663	CLIP-seq
MIRT2011614	hsa-miR-2116	CLIP-seq
MIRT2011615	hsa-miR-219-2-3p	CLIP-seq
MIRT2011616	hsa-miR-2964a-3p	CLIP-seq
MIRT2011617	hsa-miR-4273	CLIP-seq
MIRT2011618	hsa-miR-4677-5p	CLIP-seq
MIRT2011619	hsa-miR-4680-3p	CLIP-seq
MIRT2011620	hsa-miR-628-5p	CLIP-seq
MIRT2389073	hsa-miR-134	CLIP-seq
MIRT2389074	hsa-miR-3118	CLIP-seq
MIRT2389075	hsa-miR-4773	CLIP-seq
MIRT2389076	hsa-miR-564	CLIP-seq
MIRT2451293	hsa-miR-1224-3p	CLIP-seq
MIRT2451294	hsa-miR-3622a-3p	CLIP-seq
MIRT2451295	hsa-miR-3622b-3p	CLIP-seq
MIRT2682361	hsa-miR-1321	CLIP-seq
MIRT2682362	hsa-miR-1827	CLIP-seq
MIRT2682363	hsa-miR-2277-3p	CLIP-seq
MIRT2682364	hsa-miR-2467-3p	CLIP-seq
MIRT2682365	hsa-miR-3612	CLIP-seq
MIRT2682366	hsa-miR-4419a	CLIP-seq
MIRT2682367	hsa-miR-4510	CLIP-seq
MIRT2682368	hsa-miR-4739	CLIP-seq
MIRT2682369	hsa-miR-4756-5p	CLIP-seq
MIRT2682370	hsa-miR-542-3p	CLIP-seq
MIRT2682371	hsa-miR-650	CLIP-seq
MIRT2682372	hsa-miR-922	CLIP-seq

Show/Hide all (7)

Transcription factor	Regulation	Reference
HHEX	Activation	22068426
RARA	Unknown	11585914
RXRA	Unknown	11027556
SOX17	Activation	22068426
SP1	Unknown	23307400
SREBF2	Repression	19179483
TP53	Repression	16895524

Show/Hide all (76)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	16488887
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
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	IEA
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	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0003677	Function	DNA binding	IDA	7615825, 10551874
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	7615825, 10330009, 12911579, 16488887
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0004879	Function	Nuclear receptor activity	IDA	12193589
GO:0005102	Function	Signaling receptor binding	IDA	12220494
GO:0005504	Function	Fatty acid binding	IDA	12220494
GO:0005515	Function	Protein binding	IPI	12855700, 16488887, 17932483, 17978169, 19549071, 19846556, 21532585, 23714182, 23714368, 25910212, 28128295, 30530698, 33961781, 35140242
GO:0005634	Component	Nucleus	IDA	7615825, 14563941, 15574752
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	14563941
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	10330009, 12911579
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IMP	18163890
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	IMP	17827783
GO:0007548	Process	Sex differentiation	IEA
GO:0007596	Process	Blood coagulation	IDA	12911579
GO:0008270	Function	Zinc ion binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	18163890
GO:0009749	Process	Response to glucose	IEA
GO:0009749	Process	Response to glucose	ISS
GO:0010467	Process	Gene expression	IEA
GO:0010470	Process	Regulation of gastrulation	IEA
GO:0019216	Process	Regulation of lipid metabolic process	IDA	10551874
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030308	Process	Negative regulation of cell growth	IMP	18163890
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	IMP	30530698
GO:0042803	Function	Protein homodimerization activity	IDA	12220494
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	30530698
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16488887
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	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	7615825
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	17827783, 30597922
GO:0046872	Function	Metal ion binding	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0050796	Process	Regulation of insulin secretion	IEA
GO:0050796	Process	Regulation of insulin secretion	ISS
GO:0055088	Process	Lipid homeostasis	IMP	17827783
GO:0055091	Process	Phospholipid homeostasis	IEA
GO:0055091	Process	Phospholipid homeostasis	ISS
GO:0060398	Process	Regulation of growth hormone receptor signaling pathway	NAS	17991764
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0070328	Process	Triglyceride homeostasis	IEA
GO:0070328	Process	Triglyceride homeostasis	ISS
GO:0090368	Process	Regulation of ornithine metabolic process	IMP	17827783
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
600281	5024	ENSG00000101076

P41235

Protein name

Hepatocyte nuclear factor 4-alpha (HNF-4-alpha) (Nuclear receptor subfamily 2 group A member 1) (Transcription factor 14) (TCF-14) (Transcription factor HNF-4)

Protein function

Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes (PubMed:30597922). Activa

PDB

1PZL , 3CBB , 3FS1 , 4B7W , 4IQR , 6CHT , 8C1L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00105	zf-C4	58 → 127	Zinc finger, C4 type (two domains)	Domain
PF00104	Hormone_recep	172 → 361	Ligand-binding domain of nuclear hormone receptor	Domain

Sequence

MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALC
AICGDRATGKHYGASSCDGCKGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKC
FRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITSPVSGINGDIRAKK
IASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAK
GLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKL
FGMAKIDNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGTNVIVANTMPTHLSNGQMCEW
PRPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI

Sequence length

474

Interactions

View interactions

	KEGG		Reactome
	AMPK signaling pathway Maturity onset diabetes of the young		Nuclear Receptor transcription pathway

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 (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant polycystic liver disease	Likely pathogenic	rs757731931	RCV001844932	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	Likely pathogenic; Pathogenic	rs376013528, rs587777732, rs137853336, rs769007443, rs2515692811, rs1085307913, rs1555813319, rs776489992, rs1568731279, rs1229650809, rs377476335	RCV002488364 RCV000144170 RCV001536085 RCV005030371 RCV004796870 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HNF4A-related disorder	Likely pathogenic; Pathogenic	rs376013528, rs2146126966, rs2515650510, rs1057524790, rs193922479, rs193922480, rs1375557127, rs1191912908, rs370239205	RCV004753363 RCV003931301 RCV003397006 RCV003402473 RCV004752724 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinemia	Pathogenic	rs587777732, rs193922479	RCV000193614 RCV000193933	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperinsulinism due to HNF1A deficiency	Pathogenic	rs2146127847	RCV002254471	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperinsulinism due to HNF4A deficiency	Pathogenic	rs1555813319, rs776489992	RCV000504202 RCV000499584	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Maturity-onset diabetes of the young	Likely pathogenic; Pathogenic	rs376013528, rs587777732, rs2515714538, rs2515692811, rs137853336, rs2515650510, rs2515650628, rs1568741527, rs1032055611, rs2515644908, rs1057517745, rs1057524790, rs1085307913, rs1131692187, rs1555813319 View all (26 more)	RCV002368564 RCV002408643 RCV002373066 RCV002353246 RCV002453254 View all (36 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maturity-onset diabetes of the young type 1	Likely pathogenic; Pathogenic	rs376013528, rs2146126966, rs2146127594, rs2146127577, rs2146127862, rs2146368271, rs2146412136, rs587777732, rs2146468685, rs2146467548, rs2515714792, rs2515680101, rs1385142974, rs2515699364, rs2515728402 View all (32 more)	RCV002285490 RCV001730175 RCV001730176 RCV001730177 RCV001730178 View all (45 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maturity-onset diabetes of the young type 3	Pathogenic	rs2515714538	RCV002285541	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic diabetes	Likely pathogenic; Pathogenic	rs376013528, rs2146126966, rs2146127594, rs2146127577, rs2146127862, rs2146412136, rs587777732, rs2515714792, rs1385142974, rs2515714538, rs1375557127, rs137853334, rs137853335, rs137853336, rs1600731198 View all (57 more)	RCV004571057 RCV003234579 RCV003234580 RCV003883183 RCV003493870 View all (76 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Type 2 diabetes mellitus	Likely pathogenic; Pathogenic	rs376013528, rs587777732, rs137853336, rs769007443, rs2515692811, rs1085307913, rs1555813319, rs776489992, rs1568731279, rs377476335	RCV002488364 RCV000763446 RCV001536085 RCV005030371 RCV004796870 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (36)

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.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL FANCONI SYNDROME, NEONATAL HYPERINSULINISM SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL FANCONI SYNDROME-NEONATAL HYPERINSULINISM SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPERINSULINISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPERINSULINISM DUE TO HNF4A DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS AUTOSOMAL DOMINANT TYPE II	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NONINSULIN-DEPENDENT	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hyperinsulinism	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Uncertain risk allele	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycosuria	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM DUE TO HEPATOCYTE NUCLEAR FACTOR 1-ALPHA DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism, Dominant	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA, FAMILIAL COMBINED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGLYCEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAHEPATIC CHOLESTASIS OF PREGNANCY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY ONSET DIABETES MELLITUS IN YOUNG	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-onset diabetes of the young type 2	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIVER DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

HNF4A (hepatocyte nuclear factor 4 alpha)