HNF4A (hepatocyte nuclear factor 4 alpha)

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 3172
• Gene name: Hepatocyte nuclear factor 4 alpha
• Gene symbol: HNF4A
• Synonyms (NCBI Gene): FRTS4, HNF4, HNF4a7, HNF4a8, HNF4a9, HNF4alpha, MODY, MODY1, NR2A1, NR2A21, TCF, TCF-14, TCF14
• 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

SNPs 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

miRNA Show/Hide all (122)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20018894
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20018894
MIRT003355	hsa-miR-24-3p	Luciferase reporter assay, qRT-PCR, Western blot	20018894
MIRT003355	hsa-miR-24-3p	Luciferase reporter assay, qRT-PCR, Western blot	20018894
MIRT003355	hsa-miR-24-3p	Luciferase reporter assay, qRT-PCR, Western blot	20018894
MIRT003355	hsa-miR-24-3p	Luciferase reporter assay, qRT-PCR, Western blot	20018894
MIRT003355	hsa-miR-24-3p	Luciferase reporter assay, qRT-PCR, Western blot	20018894
MIRT003355	hsa-miR-24-3p	Luciferase reporter assay, qRT-PCR, Western blot	20018894
MIRT003355	hsa-miR-24-3p	Luciferase reporter assay, qRT-PCR, Western blot	20018894
MIRT003822	hsa-miR-197-3p	Microarray	16822819
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22232426
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22232426
MIRT006262	hsa-miR-449a	Luciferase reporter assay, Western blot	22232426
MIRT006262	hsa-miR-449a	Luciferase reporter assay, Western 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 assay, Western blot	22232426
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22232426
MIRT006262	hsa-miR-449a	Luciferase reporter assay, Western 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	ELISA, Flow, Immunohistochemistry, Immunoprecipitaion, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22153071
MIRT006542	hsa-miR-629-5p	ELISA, Flow, Immunohistochemistry, Immunoprecipitaion, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22153071
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22232426
MIRT003356	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22232426
MIRT006262	hsa-miR-449a	Luciferase reporter assay, Western 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	ELISA, Flow, Immunohistochemistry, Immunoprecipitaion, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22153071
MIRT006542	hsa-miR-629-5p	ELISA, Flow, Immunohistochemistry, Immunoprecipitaion, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western 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-PCR, Western 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 assay, Western blotting, qRT-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

Transcription factors 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

Gene ontology (GO) 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

Other IDs

• MIM: 600281
• HGNC: 5024
• e!Ensembl: ENSG00000101076

Protein

• UniProt ID: 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
  PF00104	Hormone_recep	172 → 361	Ligand-binding domain of nuclear hormone receptor	Domain
  PF00105	zf-C4	58 → 127	Zinc finger, C4 type (two domains)	Domain

• Sequence:

  MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALC
  AICGDRATGKHYGASSCDGCKGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKC
  FRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITSPVSGINGDIRAKK
  IASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
  DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAK
  GLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKL
  FGMAKIDNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGTNVIVANTMPTHLSNGQMCEW
  PRPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI

• Sequence length: 474

Pathways

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

Associated diseases

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)

Causal Show/Hide Causal Diseases (11)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 RCV005027566 RCV005027578 RCV002490833 RCV002499300 RCV000850387 RCV002499506	★★★★★ 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 RCV004752725 RCV004753003 RCV003413778 RCV004753264	★★★★★ 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, rs1555816615, rs1555816642, rs1555817851, rs1555815158, rs193922475, rs193922476, rs193922479, rs193922480, rs1555815396, rs1555813342, rs1555815393, rs1555813267, rs1236613475, rs1375557127, rs1568731279, rs1385251852, rs1568724014, rs1392795567, rs1229650809, rs1290868034, rs1191912908, rs1600707958, rs1600710669, rs2063786151, rs377476335, rs2063787705	RCV002368564 RCV002408643 RCV002373066 RCV002353246 RCV002453254 RCV004017981 RCV003330068 RCV003330070 RCV004690403 RCV003489555 RCV003148736 RCV003148739 RCV003317241 RCV003148755 RCV002282183 RCV005407669 RCV002376954 RCV003148763 RCV003148771 RCV003148629 RCV003148630 RCV001249093 RCV002509171 RCV003148799 RCV003148807 RCV002334036 RCV003148809 RCV003148820 RCV002369982 RCV003148855 RCV003148857 RCV003148858 RCV002352258 RCV003148886 RCV002382225 RCV003317408 RCV003148904 RCV003148905 RCV001269161 RCV002447257 RCV003148964	★★★★★ 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, rs2063837029, rs2515679716, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs1404334125, rs1236613475, rs2515422927, rs769007443, rs1463516865, rs2515692811, rs1057524790, rs369429452, rs1085307913, rs1131692187, rs1555813319, rs1555816654, rs776489992, rs193922471, rs193922475, rs193922476, rs193922479, rs193922480, rs1375557127, rs1568731279, rs1385251852, rs1568724014, rs1392795567, rs1191912908, rs377476335	RCV002285490 RCV001730175 RCV001730176 RCV001730177 RCV001730178 RCV001730179 RCV001808868 RCV002285520 RCV000763446 RCV002250046 RCV002272666 RCV002285536 RCV002285537 RCV002285538 RCV002285539 RCV002285540 RCV002285547 RCV002285560 RCV000009790 RCV000009791 RCV000009792 RCV000009795 RCV000009796 RCV003319281 RCV003319282 RCV003319283 RCV003986002 RCV005871490 RCV004555304 RCV004796870 RCV003993964 RCV002285339 RCV002285340 RCV000495952 RCV002285346 RCV000502655 RCV002490833 RCV000030018 RCV000030025 RCV000030026 RCV000030034 RCV006261725 RCV000754815 RCV000714521 RCV000754810 RCV000754819 RCV000754818 RCV001248988 RCV001249067 RCV002499506	★★★★★ 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, rs137853338, rs1392795567, rs2515651025, rs2515679217, rs2515651269, rs2515713821, rs920346355, rs2515680101, rs2515679836, rs2515644510, rs2515650510, rs768043933, rs1568741527, rs1032055611, rs2515680075, rs777290134, rs1176335599, rs2515651295, rs1298896114, rs2515675063, rs2515675708, rs769007443, rs1191912908, rs193922474, rs2515692811, rs1290868034, rs2515422575, rs1229650809, rs2515644041, rs1057517745, rs1057524790, rs369429452, rs1085307913, rs1131692187, rs1555813319, rs1555816654, rs776489992, rs1555816615, rs1555816642, rs781364316, rs1555817727, rs1555817851, rs1555815158, rs193922471, rs193922475, rs193922476, rs193922479, rs193922480, rs1555815396, rs1555813342, rs1555815393, rs1555813267, rs1236613475, rs1568731279, rs2063786151, rs377476335, rs370239205	RCV004571057 RCV003234579 RCV003234580 RCV003883183 RCV003493870 RCV003993685 RCV003993659 RCV005054407 RCV003234589 RCV004797990 RCV004598221 RCV004699115 RCV004566710 RCV003445066 RCV003234535 RCV004797758 RCV003228707 RCV003228709 RCV003234758 RCV003234761 RCV003318537 RCV003318538 RCV005629982 RCV003326067 RCV003326070 RCV003326071 RCV003326072 RCV004572933 RCV004798040 RCV003330376 RCV003445454 RCV003494033 RCV003993694 RCV003993718 RCV003993720 RCV003993721 RCV003993722 RCV003993723 RCV003993724 RCV004527579 RCV004527584 RCV004574959 RCV004574960 RCV004574965 RCV004574966 RCV004574967 RCV004574968 RCV003993661 RCV003234558 RCV004699124 RCV003330315 RCV003993663 RCV003993665 RCV004699125 RCV004527378 RCV004568659 RCV003493617 RCV004699127 RCV004527386 RCV004527385 RCV003993668 RCV003234541 RCV004566756 RCV003883125 RCV004527307 RCV004597731 RCV004568238 RCV003993671 RCV004568336 RCV003993673 RCV000664160 RCV004733013 RCV004527396 RCV003330320 RCV003493749 RCV003330324 RCV004527405 RCV003234573 RCV004797919 RCV003325993 RCV003993681	★★★★★ 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 RCV005027566 RCV005027578 RCV002490833 RCV002499300 RCV002499506	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (36)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	36738649	★★☆☆☆ 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	24285859	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	30504769, 34594039, 34651315, 37965154	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	19915572	★★☆☆☆ 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	20931292, 25733449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	35285134	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	37106081	★★☆☆☆ 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	17317762, 21874001, 22158537	★★☆☆☆ 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	30504769, 34651315	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycosuria	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	31578528, 33356394, 33462484, 39406924, 40465716	★★☆☆☆ 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	35977952	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	40069456	★★☆☆☆ 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	21115832	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3	—	Disgenet	17407387,18028455,18268044,19566570,20164212,20546279,20931292,21105491,21537110,23551881,23652628,23796040,24299156,24947580,27486234,28242437,29493090,30026763,30730840,31096182,31309534,32670997,35118593,8945471	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	31589552, 39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODY	—	Orphanet	21844708, 22498247	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIVER DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	36738649	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	35285134	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

HNF1A 9 shared diseasesHyperinsulinism, Cholecystolithiasis, Diabetes mellitus, Maturity-onset diabetes of the young (mody), Hyperlipidemia, Gallstones, Hypoglycemia, Maturity-onset diabetes of the young, monogenic diabetes 1 shared pathwayMaturity onset diabetes of the young 15 shared evidence sourcesDisgenet (Hyperinsulinism), GWAS catalog (Cholecystolithiasis), GWAS catalog (Diabetes mellitus), Disgenet (Maturity-onset diabetes of the young (mody)), GenCC (Diabetes mellitus type 2), Disgenet (Diabetes mellitus type 2), CTD (Diabetes mellitus type 2), ClinVar (Diabetes mellitus type 2), GWAS catalog (Gallstones), Disgenet (Hypoglycemia), HPO (Maturity-onset diabetes of the young (mody)), CTD (Maturity-onset diabetes of the young (mody)) +3 more Related via 9 shared diseases including Hyperinsulinism, Cholecystolithiasis — evidence mostly Disgenet. KCNJ11 7 shared diseasesHyperinsulinism, Congenital hyperinsulinism, Diabetes mellitus, Maturity-onset diabetes of the young (mody), Hypoglycemia, Maturity-onset diabetes of the young, monogenic diabetes 15 shared evidence sourcesDisgenet (Hyperinsulinism), GWAS catalog (Hyperinsulinism), Disgenet (Congenital hyperinsulinism), Disgenet (Maturity-onset diabetes of the young (mody)), GenCC (Diabetes mellitus type 2), Disgenet (Diabetes mellitus type 2), CTD (Diabetes mellitus type 2), ClinVar (Diabetes mellitus type 2), Disgenet (Hypoglycemia), HPO (Maturity-onset diabetes of the young (mody)), GWAS catalog (Maturity-onset diabetes of the young (mody)), CTD (Maturity-onset diabetes of the young (mody)) +3 more Related via 7 shared diseases including Hyperinsulinism, Congenital hyperinsulinism — evidence mostly Disgenet. GCK 7 shared diseasesHyperinsulinism, Congenital hyperinsulinism, Diabetes mellitus, Maturity-onset diabetes of the young (mody), Hypoglycemia, Maturity-onset diabetes of the young, monogenic diabetes 1 shared pathwayMaturity onset diabetes of the young 16 shared evidence sourcesDisgenet (Hyperinsulinism), Disgenet (Congenital hyperinsulinism), GWAS catalog (Diabetes mellitus), Disgenet (Maturity-onset diabetes of the young (mody)), GenCC (Diabetes mellitus type 2), Disgenet (Diabetes mellitus type 2), CTD (Diabetes mellitus type 2), ClinVar (Diabetes mellitus type 2), ClinVar (Hyperinsulinism), Disgenet (Hypoglycemia), HPO (Maturity-onset diabetes of the young (mody)), GWAS catalog (Maturity-onset diabetes of the young (mody)) +4 more Related via 7 shared diseases including Hyperinsulinism, Congenital hyperinsulinism — evidence mostly Disgenet. ABCC8 7 shared diseasesHyperinsulinism, Congenital hyperinsulinism, Diabetes mellitus, Maturity-onset diabetes of the young (mody), Hypoglycemia, Maturity-onset diabetes of the young, monogenic diabetes 14 shared evidence sourcesDisgenet (Hyperinsulinism), GWAS catalog (Hyperinsulinism), Disgenet (Congenital hyperinsulinism), GWAS catalog (Diabetes mellitus), Disgenet (Maturity-onset diabetes of the young (mody)), GenCC (Diabetes mellitus type 2), Disgenet (Diabetes mellitus type 2), CTD (Diabetes mellitus type 2), ClinVar (Diabetes mellitus type 2), Disgenet (Hypoglycemia), HPO (Maturity-onset diabetes of the young (mody)), ClinVar (Maturity-onset diabetes of the young (mody)) +2 more Related via 7 shared diseases including Hyperinsulinism, Congenital hyperinsulinism — evidence mostly Disgenet. UBXN2B 5 shared diseasesCholecystolithiasis, Hyperlipidemia, Gallstones, Intrahepatic cholestasis of pregnancy, Liver disease 4 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones), GWAS catalog (Intrahepatic cholestasis of pregnancy), GWAS catalog (Liver disease) Related via 5 shared diseases including Cholecystolithiasis, Hyperlipidemia — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
HNF1A	9	["Hyperinsulinism","Cholecystolithiasis","Diabetes mellitus","Maturity-onset diabetes of the young (mody)","Hyperlipidemia","Gallstones","Hypoglycemia","Maturity-onset diabetes of the young","monogenic diabetes"]	1	["Maturity onset diabetes of the young"]	15	["Disgenet (Hyperinsulinism)","GWAS catalog (Cholecystolithiasis)","GWAS catalog (Diabetes mellitus)","Disgenet (Maturity-onset diabetes of the young (mody))","GenCC (Diabetes mellitus type 2)","Disgenet (Diabetes mellitus type 2)","CTD (Diabetes mellitus type 2)","ClinVar (Diabetes mellitus type 2)","GWAS catalog (Gallstones)","Disgenet (Hypoglycemia)","HPO (Maturity-onset diabetes of the young (mody))","CTD (Maturity-onset diabetes of the young (mody))"]
KCNJ11	7	["Hyperinsulinism","Congenital hyperinsulinism","Diabetes mellitus","Maturity-onset diabetes of the young (mody)","Hypoglycemia","Maturity-onset diabetes of the young","monogenic diabetes"]	0	[]	15	["Disgenet (Hyperinsulinism)","GWAS catalog (Hyperinsulinism)","Disgenet (Congenital hyperinsulinism)","Disgenet (Maturity-onset diabetes of the young (mody))","GenCC (Diabetes mellitus type 2)","Disgenet (Diabetes mellitus type 2)","CTD (Diabetes mellitus type 2)","ClinVar (Diabetes mellitus type 2)","Disgenet (Hypoglycemia)","HPO (Maturity-onset diabetes of the young (mody))","GWAS catalog (Maturity-onset diabetes of the young (mody))","CTD (Maturity-onset diabetes of the young (mody))"]
GCK	7	["Hyperinsulinism","Congenital hyperinsulinism","Diabetes mellitus","Maturity-onset diabetes of the young (mody)","Hypoglycemia","Maturity-onset diabetes of the young","monogenic diabetes"]	1	["Maturity onset diabetes of the young"]	16	["Disgenet (Hyperinsulinism)","Disgenet (Congenital hyperinsulinism)","GWAS catalog (Diabetes mellitus)","Disgenet (Maturity-onset diabetes of the young (mody))","GenCC (Diabetes mellitus type 2)","Disgenet (Diabetes mellitus type 2)","CTD (Diabetes mellitus type 2)","ClinVar (Diabetes mellitus type 2)","ClinVar (Hyperinsulinism)","Disgenet (Hypoglycemia)","HPO (Maturity-onset diabetes of the young (mody))","GWAS catalog (Maturity-onset diabetes of the young (mody))"]
ABCC8	7	["Hyperinsulinism","Congenital hyperinsulinism","Diabetes mellitus","Maturity-onset diabetes of the young (mody)","Hypoglycemia","Maturity-onset diabetes of the young","monogenic diabetes"]	0	[]	14	["Disgenet (Hyperinsulinism)","GWAS catalog (Hyperinsulinism)","Disgenet (Congenital hyperinsulinism)","GWAS catalog (Diabetes mellitus)","Disgenet (Maturity-onset diabetes of the young (mody))","GenCC (Diabetes mellitus type 2)","Disgenet (Diabetes mellitus type 2)","CTD (Diabetes mellitus type 2)","ClinVar (Diabetes mellitus type 2)","Disgenet (Hypoglycemia)","HPO (Maturity-onset diabetes of the young (mody))","ClinVar (Maturity-onset diabetes of the young (mody))"]
UBXN2B	5	["Cholecystolithiasis","Hyperlipidemia","Gallstones","Intrahepatic cholestasis of pregnancy","Liver disease"]	0	[]	4	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)","GWAS catalog (Intrahepatic cholestasis of pregnancy)","GWAS catalog (Liver disease)"]

Diseases Linked via Similar Genes

Diabetes mellitus type 1 Linked via 3 of 5 related genesHNF1A, KCNJ11, ABCC8 Permanent neonatal diabetes mellitus Linked via 3 of 5 related genesKCNJ11, GCK, ABCC8 Transient neonatal diabetes mellitus Linked via 3 of 5 related genesKCNJ11, GCK, ABCC8 Hyperinsulinemic hypoglycemia Linked via 3 of 5 related genesKCNJ11, GCK, ABCC8 Neonatal diabetes mellitus Linked via 3 of 5 related genesKCNJ11, GCK, ABCC8

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Diabetes mellitus type 1	3	["HNF1A","KCNJ11","ABCC8"]
Permanent neonatal diabetes mellitus	3	["KCNJ11","GCK","ABCC8"]
Transient neonatal diabetes mellitus	3	["KCNJ11","GCK","ABCC8"]
Hyperinsulinemic hypoglycemia	3	["KCNJ11","GCK","ABCC8"]
Neonatal diabetes mellitus	3	["KCNJ11","GCK","ABCC8"]