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

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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

1165

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 polycystic liver disease	Likely pathogenic	rs757731931	RCV001844932
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
HNF4A-related disorder	Likely pathogenic; Pathogenic	rs376013528, rs2146126966, rs2515650510, rs1057524790, rs193922479, rs193922480, rs1375557127, rs1191912908, rs370239205	RCV004753363 RCV003931301 RCV003397006 RCV003402473 RCV004752724 RCV004752725 RCV004753003 RCV003413778 RCV004753264
Hyperinsulinemia	Pathogenic	rs587777732, rs193922479	RCV000193614 RCV000193933
Hyperinsulinism due to HNF1A deficiency	Pathogenic	rs2146127847	RCV002254471
Hyperinsulinism due to HNF4A deficiency	Pathogenic	rs1555813319, rs776489992	RCV000504202 RCV000499584
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 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
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 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
Maturity-onset diabetes of the young type 3	Pathogenic	rs2515714538	RCV002285541
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 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
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

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colon adenocarcinoma	Uncertain significance	rs745742092	RCV005935077
Familial hyperinsulinism	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Uncertain risk allele	rs736823, rs1800961, rs374703326, rs150776703, rs201330472, rs200905283, rs11574744, rs149998598, rs11086926, rs761017274, rs3212210, rs886056684, rs886056685, rs4812832, rs760628227 View all (97 more)	RCV000329726 RCV000280314 RCV001141896 RCV000332137 RCV000317030 RCV000377327 RCV000399364 RCV000353558 RCV000327583 RCV000389996 RCV000270968 RCV000318807 RCV000317323 RCV000287827 RCV000342595 RCV000299404 RCV000316939 RCV000274252 RCV000342997 RCV000357807 RCV000270831 RCV000274251 RCV000401329 RCV000406835 RCV000339008 RCV000310769 RCV000377018 RCV000278245 RCV000344922 RCV000389356 RCV000283806 RCV000265154 RCV000382918 RCV000354927 RCV000276652 RCV000281626 RCV000314111 RCV000361574 RCV000267363 RCV000348252 RCV000265512 RCV000354252 RCV000370105 RCV000275486 RCV000381804 RCV000383959 RCV000303861 RCV000304160 RCV000372305 RCV000285521 RCV000368450 RCV000331180 RCV000287603 RCV000378593 RCV000398865 RCV000392322 RCV000331239 RCV000291358 RCV000302930 RCV000272066 RCV000345156 RCV000356633 RCV001139382 RCV001142000 RCV000326102 RCV001139277 RCV000401137 RCV001141895 RCV000340715 RCV001137144 RCV001137145 RCV001137148 RCV001141898 RCV001137029 RCV001143700 RCV001139379 RCV001143696 RCV001137027 RCV001143695 RCV001137147 RCV001139381 RCV001141998 RCV001143816 RCV001143819 RCV001137253 RCV001139507 RCV001139508 RCV001142109 RCV001137373 RCV001137375 RCV001137378 RCV001139608 RCV001140374 RCV001140375 RCV001137491 RCV001137493 RCV001139708 RCV001140467 RCV001140469 RCV001140471 RCV001140474 RCV001142325 RCV001137585 RCV001137586 RCV001139810 RCV001140586 RCV001140588 RCV001142445 RCV001137694 RCV001137696 RCV001139920 RCV001139921 RCV001140687 RCV001143699
Glycosuria	Benign; Likely benign	rs745975	RCV002226672
Hyperinsulinism, Dominant	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs745975, rs886056679, rs749515492, rs886056691, rs886056693, rs11450239, rs141563916, rs145280017, rs886056692, rs886056694, rs371937621, rs3834658, rs761222838, rs886056698, rs886056700 View all (5 more)	RCV000268875 RCV000391828 RCV000293595 RCV000395129 RCV000312287 RCV000280835 RCV000337648 RCV000305735 RCV000335237 RCV000366968 RCV000387464 RCV000302022 RCV000363471 RCV000393199 RCV000402368 RCV000287423 RCV000268803 RCV000371923 RCV000320646 RCV000293779 RCV000305230
Maturity-onset diabetes of the young type 2	Uncertain significance	rs2146468795	RCV003446785

Show/Hide Text Mining Associations (173)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Kidney Injury	Inhibit	39954965
Adenocarcinoma	Associate	14710233, 22629454, 30962179, 37620896
Adenocarcinoma of Lung	Associate	31994347, 37180584
Adenoma	Associate	28533663
Adenomatous Polyposis Coli	Associate	11437403, 11572874, 14970870, 28708837
Adenomatous Polyposis Coli	Stimulate	32626748
Adrenocortical Carcinoma	Associate	26515592
Antley Bixler Syndrome Phenotype	Associate	26515592
Aortic Aneurysm Abdominal	Associate	26498477
Arthritis	Associate	24000795
Arthritis Juvenile	Associate	24000795
Arthritis Rheumatoid	Associate	29848990
Atherosclerosis	Associate	18703780
Barrett Esophagus	Associate	19468668, 24713057, 37690144
Barrett Esophagus	Stimulate	30962179
Blood Coagulation Disorders	Associate	36814838, 9294105
Breast Neoplasms	Associate	16003740, 28583188
Cachexia	Inhibit	20407445
Calcinosis Cutis	Associate	24059685
Carcinogenesis	Associate	12378619, 17149756, 18703780, 21247902, 22778133, 29234104, 29551770, 30191603, 30792270, 35655171, 37974020
Carcinogenesis	Inhibit	33300557
Carcinoma Hepatocellular	Associate	10606640, 12133007, 12799639, 16891307, 16980607, 17275129, 19941970, 20976847, 21256126, 24059685, 25526364, 26624507, 26848864, 28726775, 29566023 View all (9 more)
Carcinoma Hepatocellular	Inhibit	25422324, 32210451, 35006629
Carcinoma Non Small Cell Lung	Associate	30195659
Carcinoma Renal Cell	Associate	22140441, 23572277, 23591200, 25209865, 25961905, 32093682, 36947439, 8945471
Carcinoma Renal Cell	Inhibit	26287733, 31322246
Carcinoma Small Cell	Associate	40275187
Carcinoma Squamous Cell	Associate	32402285
Central Nervous System Infections	Associate	37236124
Chemical and Drug Induced Liver Injury	Associate	29106686, 36076262
Cholangiocarcinoma	Associate	35550144
Cholestasis	Associate	25798860
Clinical Deterioration	Associate	20003313
Coagulation Protein Disorders	Associate	8567696
Colitis	Associate	33300557
Colitis Ulcerative	Associate	19915572, 22914433, 28885228
Coloboma	Associate	33251707
Colonic Neoplasms	Associate	11572874, 19237607, 19784072, 21829439, 24704829
Colorectal Neoplasms	Associate	12387883, 12408868, 12460462, 12799639, 14566053, 15188006, 15331612, 16705313, 17291450, 17360646, 18621708, 20348951, 21247902, 21764279, 21829439 View all (21 more)
Communication Disorders	Associate	31937830
Congenital disorder of glycosylation type 1A	Associate	36773065
Congenital Hyperinsulinism	Associate	20164212, 22802087, 23345197, 24285859, 25008049, 28693455, 38433330
Crohn Disease	Associate	22914433, 32915959
Desmoid disease hereditary	Associate	15054469
Diabetes Complications	Associate	12413008
Diabetes Gestational	Associate	30239167
Diabetes Mellitus	Associate	12413008, 15233628, 18297260, 18356407, 18391435, 18829458, 20003313, 20126273, 20705777, 20878384, 21135126, 22140441, 22798294, 22802087, 22840769 View all (29 more)
Diabetes Mellitus Type 1	Associate	19228875, 36418577
Diabetes Mellitus Type 2	Associate	10606640, 12413008, 14551916, 14988562, 15233628, 16186411, 16223942, 16936201, 16946562, 18356407, 18391435, 18602983, 18654034, 18728231, 18829458 View all (52 more)
Diabetic Nephropathies	Associate	25786776
Diabetic Neuropathies	Associate	23551881
Diabetic Retinopathy	Associate	12413008
Drug Related Side Effects and Adverse Reactions	Associate	34949673, 35426258
Dyslipidemias	Associate	30709899
End Stage Liver Disease	Inhibit	37820926
Endometriosis	Associate	29357938
Esophageal Squamous Cell Carcinoma	Associate	17037983
Factor VII Deficiency	Associate	11110717, 36123027, 8978290
Factor XII Deficiency	Associate	19786295
Fanconi Syndrome	Associate	22802087, 24285859, 33251707, 33430795, 38433330, 39527373
Fatigue	Associate	32330594
Fatty Liver	Associate	21135126
Fatty Liver Alcoholic	Associate	29216278
Fetal Growth Retardation	Associate	20126273
Fetal Macrosomia	Associate	22802087, 24285859, 33251707
Fibromatosis Aggressive	Associate	11437409
Fibrosis	Inhibit	33593348
Gastroesophageal Reflux	Associate	14970870
Gastrointestinal Neoplasms	Associate	21447180, 31695151, 33114319
Glaucoma	Associate	26135629
Glioblastoma	Associate	18242184, 25050814
Glioma	Associate	37851364
Glucose Intolerance	Associate	30239167
Glut1 Deficiency Syndrome	Associate	22802087
Glycogen Storage Disease	Associate	22802087
Harlequin type ichthyosis	Associate	20164212
Hemolytic Uremic Syndrome	Associate	23809614
Hemophilia A	Associate	1631121
Hemophilia B	Associate	1631121, 8324220, 9233568
Hemorrhage	Associate	8324220
Hepatitis Alcoholic	Associate	36243044
Hepatitis B	Associate	22257755
Hepatitis C	Associate	24173221
Hepatolenticular Degeneration	Associate	30709419
Hereditary Breast and Ovarian Cancer Syndrome	Associate	28583188
Hypercholesterolemia	Associate	30709899
Hyperglycemia	Associate	20705777
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	37711893
Hyperinsulinism	Associate	22802087, 25555642, 29493090, 33251707
Hyperlipidemia Familial Combined	Associate	18340007
Hypertension	Associate	21298017
Hypoglycemia	Associate	20164212, 27486234, 28693455
Hypoxia	Inhibit	11553861
Hypoxia	Associate	12239177, 17372675
Hypoxia Brain	Inhibit	11553861
Hypoxia Brain	Associate	17372675
Hypoxia Brain	Stimulate	37798384
Inflammation	Associate	22257755, 22914433, 29328431, 30945673, 32330594, 32627006, 36980809, 37236124, 37820926
Inflammation	Inhibit	35006629
Inflammatory Bowel Diseases	Associate	23675775, 27903283, 28882825, 32915959, 33300557, 36773065
Inflammatory Bowel Diseases	Inhibit	35653895
Insulin Resistance	Inhibit	24142110
Intestinal Neoplasms	Associate	18455124
Intracranial Aneurysm	Associate	29328431
Kidney Diseases	Associate	33251707, 9294105
Kidney Diseases	Inhibit	39954965
Kidney Failure Chronic	Associate	18602983
Leukemia	Associate	20797387, 22858986
Leukemia Biphenotypic Acute	Associate	17156404
Leukemia Lymphocytic Chronic B Cell	Associate	29785028
Lipid Metabolism Disorders	Associate	16223942
Liver Cirrhosis	Associate	22257755, 35006629
Liver Diseases	Associate	32516515, 35006629, 38433330
Liver Failure	Associate	27721404, 29067470, 33251707, 33593348, 34949673
Lung Neoplasms	Associate	23761130, 26035432, 28592245
Mason Type Diabetes	Associate	10606640, 16223942, 18356407, 18391435, 18654034, 18829458, 20164212, 20705777, 21270186, 22140441, 23306198, 27486234, 29990710, 33114319, 33526762, 38433330, 8945471 View all (2 more)
Maturity Onset Diabetes of the Young Type 1	Associate	10051618, 12413008, 15233628, 15651981, 18654034, 20003313, 22140441, 23485969, 28684784, 30191603, 30325586, 33251707, 35029855, 35043148, 37711893, 38433330, 39527373 View all (2 more)
Maturity Onset Diabetes of the Young Type 3	Associate	10606640, 22802087, 37711893
Melanoma	Associate	19216735, 19269971
Meningioma	Associate	18297260
Metabolic Diseases	Associate	26043170, 29216278, 31305461, 33114319
Metabolic Syndrome	Associate	25671620, 29598821, 31305461
Mitochondrial Diseases	Associate	39527373
Mucositis	Associate	29361088
Multiple Sclerosis	Associate	37236124
Neoplasm Metastasis	Associate	24059685, 26947016, 31322246, 31994347, 33371430, 33628089, 40577985
Neoplasms	Associate	10607566, 11381089, 11943708, 12200448, 14970870, 15579438, 15893313, 16003740, 16523202, 16959035, 18242184, 18621708, 19244345, 19701245, 21983179 View all (22 more)
Neoplasms	Inhibit	16895524, 22848702, 24992599, 31695151, 32093682, 38157373
Neoplasms	Stimulate	24262069, 32173382
Nephrocalcinosis	Associate	24285859
Neuroblastoma	Associate	31343368, 32216806
Neuroinflammatory Diseases	Associate	35426258
Non alcoholic Fatty Liver Disease	Associate	27836672, 29216278, 33415161, 35006629, 35655171, 36473131
Obesity	Associate	18654034, 26395551, 29598821, 29752338, 30021629, 31305461, 36980809
Osteoarthritis	Associate	23603903, 33415161
Ovarian Neoplasms	Associate	11943708, 16110260
Pancreatic Intraductal Neoplasms	Associate	37974020
Pancreatic Neoplasms	Associate	32402285, 33371430
Parkinson Disease	Associate	22952715, 25646437, 26516212, 33918274
Parkinson Disease	Stimulate	30962179, 35426258
Periodontitis	Associate	34805411
Polycythemia	Associate	26624507
Precancerous Conditions	Associate	30191603
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	36597789
Prediabetic State	Associate	36980809
Prostatic Neoplasms	Associate	16474850, 24504368, 24924803, 25909225, 32511787
Prostatic Neoplasms	Inhibit	31695151, 34309216
Proteinuria	Associate	24285859
Retinal Dysplasia	Associate	33300557
Retinal Vein Occlusion	Inhibit	35006629
Rheumatic Diseases	Associate	28387599
Rickets Hypophosphatemic	Associate	22802087, 33251707
Sarcosinemia	Associate	28387599
Schizophrenia	Associate	29907492
Scleroderma Systemic	Associate	28387599
SeSAME syndrome	Associate	24285859
Severe Acute Respiratory Syndrome	Stimulate	22257755
Sinusitis	Associate	35154161
Skin Neoplasms	Associate	23690679
Squamous Cell Carcinoma of Head and Neck	Associate	20028760, 36142321
Stomach Neoplasms	Associate	17149756, 21494638, 23714368, 28583188, 34635154, 36430456, 37296105
Sunburn	Associate	30665703
Syncope	Associate	28693455
Telomeric 22q13 Monosomy Syndrome	Inhibit	32516515
Thrombosis	Associate	19786295
Thyroid Cancer Papillary	Associate	40427523
Tuberculosis	Associate	26043170
Tuberculosis Multidrug Resistant	Associate	26947016
Uremia	Associate	23809614
Urinary Bladder Neoplasms	Associate	29620261, 37016361
Weight Gain	Associate	29598821
Xanthomatosis Cerebrotendinous	Stimulate	15576845
Xeroderma Pigmentosum	Associate	30665703

HNF4A (hepatocyte nuclear factor 4 alpha)