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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2290
Gene name	Forkhead box G1
Gene symbol	FOXG1
Synonyms (NCBI Gene)	BF1BF2FHKL3FKH2FKHL1FKHL2FKHL3FKHL4FOXG1AFOXG1BFOXG1CHBF-1HBF-2HBF-3HBF-G2HBF2HFK1HFK2HFK3KHL2QIN
Chromosome	14
Chromosome location	14q12
Summary	This locus encodes a member of the fork-head transcription factor family. The encoded protein, which functions as a transcriptional repressor, is highly expressed in neural tissues during brain development. Mutations at this locus have been associated wit

117

Show/Hide all (117)

SNP ID	Visualize variation	Clinical significance	Consequence
rs112803404	C>G,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Coding sequence variant, synonymous variant
rs121913678	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs138747073	C>A,G,T	Pathogenic, likely-benign	Stop gained, coding sequence variant, synonymous variant
rs141088742	C>G,T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144434028	C>T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs148410675	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs267606826	C>A,G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs267606827	G>A	Pathogenic	Coding sequence variant, stop gained
rs267606828	T>C	Pathogenic	Coding sequence variant, missense variant
rs398124201	AGCAGC>-,AGC,AGCAGCAGC	Conflicting-interpretations-of-pathogenicity, likely-benign	Inframe deletion, coding sequence variant, inframe insertion
rs398124202	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic, likely-benign	Coding sequence variant, missense variant, stop gained
rs398124204	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs538358023	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs570981209	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs587783629	C>-,CC,CCC	Pathogenic	Coding sequence variant, frameshift variant
rs587783631	ACCCGCCGCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783635	GGGGCGCCCCGGCCGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783636	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783637	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs587783638	C>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs587783640	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587783641	A>G	Pathogenic	Coding sequence variant, missense variant
rs587783642	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs587783643	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503934	TTACTACC>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503935	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs747138265	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs760663911	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs761703699	CGCCGC>-,CGC,CGCCGCCGC	Conflicting-interpretations-of-pathogenicity	Inframe deletion, inframe insertion, coding sequence variant
rs762634382	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs764343290	C>G,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs767961672	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs786200975	GCCGCCGCC>-,GCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC	Conflicting-interpretations-of-pathogenicity, likely-benign	Inframe deletion, inframe insertion, coding sequence variant
rs786204998	TC>CT	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs786204999	C>G,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs786205000	C>T	Pathogenic	Stop gained, coding sequence variant
rs786205001	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs786205003	GG>C,T	Pathogenic	Frameshift variant, coding sequence variant
rs786205004	->C	Pathogenic	Frameshift variant, coding sequence variant
rs786205005	G>A	Pathogenic	Coding sequence variant, missense variant
rs786205006	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs786205007	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs786205008	T>C	Pathogenic	Coding sequence variant, missense variant
rs786205009	C>T	Pathogenic	Coding sequence variant, missense variant
rs786205010	ACGTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205011	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205486	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs796052453	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs796052458	C>T	Pathogenic	Stop gained, coding sequence variant
rs796052461	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796052462	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs796052463	C>T	Pathogenic	Stop gained, coding sequence variant
rs796052464	C>G	Pathogenic	Stop gained, coding sequence variant
rs796052465	C>T	Pathogenic	Stop gained, coding sequence variant
rs796052468	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052469	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796052474	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs796052476	->G	Pathogenic	Frameshift variant, coding sequence variant
rs796052477	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052481	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796052484	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs796052485	GC>ACCG	Pathogenic	Frameshift variant, coding sequence variant
rs796052486	TCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs869312700	G>A	Pathogenic	Coding sequence variant, missense variant
rs869312961	C>G	Pathogenic	Coding sequence variant, missense variant
rs879255530	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886041744	T>A	Pathogenic	Coding sequence variant, missense variant
rs1057516138	G>C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1057517859	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057518165	C>G,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1057518196	CG>GTC	Pathogenic	Frameshift variant, coding sequence variant
rs1057520663	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057520780	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057521783	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793481	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796823	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797030	GC>TT	Pathogenic	Coding sequence variant, stop gained
rs1064797186	A>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1085307753	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307966	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691540	C>T	Pathogenic	Coding sequence variant, stop gained
rs1452295073	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs1555321206	->GCCGCCCGCC	Pathogenic	Coding sequence variant, frameshift variant
rs1555321237	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555321264	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555321279	G>C,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1555321294	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555321301	C>G	Likely-pathogenic	Stop gained, coding sequence variant
rs1555321302	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555321311	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555321337	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555321339	C>G	Pathogenic	Coding sequence variant, missense variant
rs1555321345	CCACTACGAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555321351	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555321353	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555321361	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555321366	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555321367	A>T	Pathogenic	Stop gained, coding sequence variant
rs1555321369	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555321380	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555321382	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555321400	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555321402	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555321405	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1566445169	AGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566445489	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1594382746	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594382930	CCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594383056	CGCCGCCG>AGCCGCCCCC	Pathogenic	Frameshift variant, coding sequence variant
rs1594383151	->GG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1594383538	->AACG	Pathogenic	Frameshift variant, coding sequence variant
rs1594383576	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594383704	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1594383773	->ACTA	Pathogenic	Stop gained, coding sequence variant
rs1594383798	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594384015	->AACGGCAC	Pathogenic	Frameshift variant, coding sequence variant
rs1594384249	A>T	Likely-pathogenic	Missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016200	hsa-miR-590-3p	Sequencing	20371350
MIRT029405	hsa-miR-26b-5p	Microarray	19088304
MIRT658115	hsa-miR-586	HITS-CLIP	23824327
MIRT658114	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT069734	hsa-miR-30d-5p	PAR-CLIP	20371350
MIRT069733	hsa-miR-30c-5p	PAR-CLIP	20371350
MIRT069731	hsa-miR-30a-5p	PAR-CLIP	20371350
MIRT069735	hsa-miR-30b-5p	PAR-CLIP	20371350
MIRT069738	hsa-miR-30e-5p	PAR-CLIP	20371350
MIRT069737	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT069744	hsa-miR-4504	PAR-CLIP	20371350
MIRT405781	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT069736	hsa-miR-124-5p	PAR-CLIP	20371350
MIRT557832	hsa-miR-1206	PAR-CLIP	20371350
MIRT557831	hsa-miR-6853-3p	PAR-CLIP	20371350
MIRT069739	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT069740	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT567507	hsa-miR-4743-3p	PAR-CLIP	20371350
MIRT567506	hsa-miR-4652-3p	PAR-CLIP	20371350
MIRT069738	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT069735	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT069731	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT069733	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT069734	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT069737	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT069744	hsa-miR-4504	PAR-CLIP	21572407
MIRT069736	hsa-miR-124-5p	PAR-CLIP	21572407
MIRT557832	hsa-miR-1206	PAR-CLIP	21572407
MIRT557831	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT069739	hsa-miR-376a-3p	PAR-CLIP	21572407
MIRT069740	hsa-miR-376b-3p	PAR-CLIP	21572407
MIRT341338	hsa-miR-422a	Luciferase reporter assayNorthern blot	25251503
MIRT278144	hsa-miR-200b-3p	Luciferase reporter assay	27044840
MIRT658115	hsa-miR-586	HITS-CLIP	23824327
MIRT658114	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT069734	hsa-miR-30d-5p	PAR-CLIP	20371350
MIRT069733	hsa-miR-30c-5p	PAR-CLIP	20371350
MIRT069731	hsa-miR-30a-5p	PAR-CLIP	20371350
MIRT069735	hsa-miR-30b-5p	PAR-CLIP	20371350
MIRT069738	hsa-miR-30e-5p	PAR-CLIP	20371350
MIRT069737	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT069744	hsa-miR-4504	PAR-CLIP	20371350
MIRT405781	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT069736	hsa-miR-124-5p	PAR-CLIP	20371350
MIRT557832	hsa-miR-1206	PAR-CLIP	20371350
MIRT557831	hsa-miR-6853-3p	PAR-CLIP	20371350
MIRT069739	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT069740	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT567507	hsa-miR-4743-3p	PAR-CLIP	20371350
MIRT567506	hsa-miR-4652-3p	PAR-CLIP	20371350
MIRT069738	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT069735	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT069731	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT069733	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT069734	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT069737	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT069744	hsa-miR-4504	PAR-CLIP	21572407
MIRT069736	hsa-miR-124-5p	PAR-CLIP	21572407
MIRT557832	hsa-miR-1206	PAR-CLIP	21572407
MIRT557831	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT069739	hsa-miR-376a-3p	PAR-CLIP	21572407
MIRT069740	hsa-miR-376b-3p	PAR-CLIP	21572407
MIRT1001645	hsa-miR-3124-3p	CLIP-seq
MIRT1001646	hsa-miR-494	CLIP-seq
MIRT1996812	hsa-miR-203	CLIP-seq
MIRT1996813	hsa-miR-330-3p	CLIP-seq
MIRT1996814	hsa-miR-369-3p	CLIP-seq
MIRT1996815	hsa-miR-374a	CLIP-seq
MIRT1996816	hsa-miR-374b	CLIP-seq
MIRT1996817	hsa-miR-4274	CLIP-seq
MIRT1996818	hsa-miR-4470	CLIP-seq
MIRT1996819	hsa-miR-4643	CLIP-seq
MIRT1996820	hsa-miR-4704-3p	CLIP-seq
MIRT1996821	hsa-miR-602	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	7957066, 7959731
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	12657635, 24356439
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007346	Process	Regulation of mitotic cell cycle	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	TAS	7599184, 7959731
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016199	Process	Axon midline choice point recognition	IEA
GO:0021852	Process	Pyramidal neuron migration to cerebral cortex	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045787	Process	Positive regulation of cell cycle	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12657635
GO:0048664	Process	Neuron fate determination	IEA
GO:0048667	Process	Cell morphogenesis involved in neuron differentiation	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000177	Process	Regulation of neural precursor cell proliferation	IEA

MIM	HGNC	e!Ensembl
164874	3811	ENSG00000176165

P55316

Protein name

Forkhead box protein G1 (Brain factor 1) (BF-1) (BF1) (Brain factor 2) (BF-2) (BF2) (hBF-2) (Forkhead box protein G1A) (Forkhead box protein G1B) (Forkhead box protein G1C) (Forkhead-related protein FKHL1) (HFK1) (Forkhead-related protein FKHL2) (HFK2) (F

Protein function

Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon.

PDB

7CBY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00250	Forkhead	180 → 266	Forkhead domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expression is restricted to the neurons of the developing telencephalon. {ECO:0000269|PubMed:7959731}.

Sequence

MLDMGDRKEVKMIPKSSFSINSLVPEAVQNDNHHASHGHHNSHHPQHHHHHHHHHHHPPP
PAPQPPPPPQQQQPPPPPPPAPQPPQTRGAPAADDDKGPQQLLLPPPPPPPPAAALDGAK
ADGLGGKGEPGGGPGELAPVGPDEKEKGAGAGGEEKKGAGEGGKDGEGGKEGEKKNGKYE
KPPFSYNALIMMAIRQSPEKRLTLNGIYEFIMKNFPYYRENKQGWQNSIRHNLSLNKCFV
KVPRHYDDPGKGNYWMLDPSSDDVFIGGTTGKLRRRSTTSRAKLAFKRGARLTSTGLTFM
DRAGSLYWPMSPFLSLHHPRASSTLSYNGTTSAYPSHPMPYSSVLTQNSLGNNHSFSTAN
GLSVDRLVNGEIPYATHHLTAAALAASVPCGLSVPCSGTYSLNPCSVNLLAGQTSYFFPH
VPHPSMTSQSSTSMSARAASSSTSPQAPSTLPCESLRPSLPSFTTGLSGGLSDYFTHQNQ
GSSSNPLIH

Sequence length

489

Interactions

View interactions

	KEGG		Reactome
	FoxO signaling pathway		FOXO-mediated transcription of cell cycle genes

740

Show/Hide Causal Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cerebral morphology	Pathogenic	rs398124204	RCV002274912
Abnormal optic nerve morphology	Pathogenic	rs267606826	RCV001003977
Abnormality of the nervous system	Pathogenic	rs786205001	RCV001814085
Aplasia/Hypoplasia of the corpus callosum	Likely pathogenic	rs1555321402	RCV000626877
Axial hypotonia	Pathogenic	rs267606826	RCV001003977
FOXG1 disorder	Pathogenic; Likely pathogenic	rs398124204, rs1881809272, rs1057518165, rs2138660947, rs2138661305, rs2138661778, rs2138662354, rs2138661139, rs2138660628, rs2138661638, rs2138661946, rs2138661266, rs2138660395, rs2138660748, rs797045583 View all (151 more)	RCV000170075 RCV001334376 RCV001379557 RCV001382621 RCV001386551 RCV001382104 RCV001387437 RCV001775218 RCV001775274 RCV001775374 RCV001783308 RCV001781127 RCV001785281 RCV001785283 RCV001785284 RCV001785286 RCV001785287 RCV001785288 RCV001785289 RCV001785291 RCV001785292 RCV001785293 RCV001785294 RCV001785295 RCV001785296 RCV001785297 RCV001785299 RCV001785300 RCV001785301 RCV001785376 RCV001806440 RCV001823676 RCV001843410 RCV006276098 RCV001928431 RCV001953373 RCV002037016 RCV001994787 RCV002002475 RCV001953456 RCV001889701 RCV002051440 RCV001928048 RCV002249993 RCV002251244 RCV000145981 RCV000145983 RCV000145987 RCV000145988 RCV000145992 RCV000145994 RCV000145995 RCV000145996 RCV000145997 RCV000145998 RCV002271869 RCV002281625 RCV002283610 RCV002283676 RCV002286508 RCV000500932 RCV002468862 RCV002470393 RCV001781530 RCV000170073 RCV000170074 RCV000170076 RCV000170077 RCV000170078 RCV006276079 RCV000194042 RCV000170080 RCV000170081 RCV000170082 RCV000170084 RCV000170085 RCV006276078 RCV000170070 RCV002510736 RCV003514595 RCV003987432 RCV002514003 RCV006276082 RCV001781545 RCV001781546 RCV001781547 RCV001857610 RCV000803740 RCV002791502 RCV002820472 RCV002829846 RCV002871022 RCV002870734 RCV002866539 RCV003030002 RCV003027664 RCV000209877 RCV002810039 RCV002790006 RCV003127319 RCV003138589 RCV003514609 RCV003158014 RCV003158017 RCV000239423 RCV001859479 RCV003333607 RCV003334372 RCV003335827 RCV003387604 RCV003388729 RCV003389389 RCV003494088 RCV003515492 RCV000014881 RCV000014883 RCV000014884 RCV000014885 RCV000014886 RCV003516363 RCV003516389 RCV003514898 RCV003514933 RCV003515129 RCV003515873 RCV003630306 RCV003630259 RCV003630397 RCV003630520 RCV003630591 RCV003631055 RCV003628778 RCV003883314 RCV003885406 RCV006276102 RCV004594956 RCV004595329 RCV000408627 RCV000408825 RCV000209851 RCV001069733 RCV001254160 RCV002524860 RCV000503039 RCV005252933 RCV000502824 RCV000504441 RCV000648316 RCV001706659 RCV001297654 RCV000550163 RCV000525648 RCV000541926 RCV000576162 RCV000585809 RCV001775136 RCV001783103 RCV001783114 RCV001783113 RCV000648315 RCV000648318 RCV003448331 RCV000659679 RCV000702418 RCV000706347 RCV000694652 RCV000760276 RCV000807075 RCV000819252 RCV000989197 RCV000989199 RCV000995768 RCV000995769 RCV001035211 RCV001056667 RCV001040750 RCV001038102 RCV001060253 RCV001095652 RCV001171512 RCV002281584 RCV001194653 RCV001225207 RCV001222273 RCV001249270 RCV001249640 RCV001253307 RCV001255735 RCV001255845 RCV001258332 RCV001263434 RCV001338819 RCV001270402
FOXG1-related disorder	Pathogenic; Likely pathogenic	rs398124204, rs786205001, rs2502224452, rs2502227229, rs1057520780	RCV003915077 RCV004751321 RCV003408304 RCV003402280 RCV003392239
Global developmental delay	Pathogenic	rs267606826	RCV001003977
Intellectual disability	Likely pathogenic	rs587783640	RCV001260760
Lissencephaly	Likely pathogenic	rs2138661361	RCV001391269
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1566445489, rs1881828200	RCV001374989 RCV001779113
Primary microcephaly	Likely pathogenic	rs1555321402	RCV000626877
Rett syndrome	Pathogenic; Likely pathogenic	rs2138661744, rs2138661811, rs2138661043, rs2138661390, rs587783636, rs727503935, rs786205001, rs1555321382, rs1594383704, rs587783638, rs1881802605	RCV005053985 RCV005053986 RCV001823424 RCV005053993 RCV005053928 RCV005053929 RCV004798950 RCV004798793 RCV005053951 RCV005053959 RCV005053973 RCV005053979
Severe intellectual deficiency	Likely pathogenic	rs796052461	RCV000414887
Severe intellectual disability	Likely pathogenic	rs1555321402	RCV000626877
Stereotypic movement disorder	Pathogenic	rs267606826	RCV001003977
Strabismus	Pathogenic	rs267606826	RCV001003977

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism spectrum disorder	Uncertain significance	rs2502226234	RCV003127320
Neurodevelopmental abnormality	Uncertain significance	rs1555321437	RCV002060693
See cases	Uncertain significance	rs2138661960	RCV002253000

Show/Hide Text Mining Associations (81)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acquired Immunodeficiency Syndrome	Associate	28628667
Adenocarcinoma of Lung	Associate	24369052
Agenesis of Corpus Callosum	Associate	26364767, 28851325
Aicardi Syndrome	Associate	24836831
Astrocytoma	Associate	18670637
Autism Spectrum Disorder	Associate	26186191
Autistic Disorder	Associate	24836831
Blood Platelet Disorders	Associate	23632790
Brain Diseases	Associate	22739344, 26795593, 29852413, 34964776
Brain Neoplasms	Associate	29316219
Breast Neoplasms	Inhibit	23660594
Callosities	Associate	34964776
Carcinoma Hepatocellular	Associate	31771611
Carcinoma Non Small Cell Lung	Associate	29509249
Carcinoma Renal Cell	Associate	36585925
Cardiomyopathy Dilated	Associate	27737314
Central Nervous System Vascular Malformations	Associate	28851325
Chorea	Associate	24836831, 26364767, 36054588
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	27029630
Colorectal Neoplasms	Associate	35202405
Contracture	Associate	30431579
Depression Postpartum	Associate	22739344, 24836831, 25266269, 26364767, 34964776
Dermatitis Toxicodendron	Associate	23632790
Developmental Disabilities	Associate	20736978, 28851325, 31199603, 31238879, 33096386, 34964776, 36833172, 37216650
Diabetes Mellitus	Associate	35954211
Diabetes Mellitus Type 2	Stimulate	35954211
Dyskinesia Drug Induced	Associate	25266269, 27029630
Dystonia	Associate	27029630
Epilepsy	Associate	20736978, 24836831, 25266269, 26364767, 26795593
Gait Disorders Neurologic	Stimulate	27640358
Glioblastoma	Associate	28465359, 29316219, 30172378, 35148845, 37216650, 37243590
Growth Disorders	Associate	25266269, 30431579
Hand Injuries	Associate	20736978, 29322350
Head and Neck Neoplasms	Associate	20736978
Hereditary leiomyomatosis and renal cell cancer	Associate	1656757
Hyperimmunoglobulin G1(A1) Syndrome	Associate	22739344, 25266269, 29321672, 32541681, 35148845, 35714598, 36833172
Hyperkinesis	Associate	27029630, 36054588
Infantile Epileptic Dyskinetic Encephalopathy	Associate	27640358, 34964776
Inflammation	Associate	35954211
Intellectual Disability	Associate	20736978, 22739344, 24836831, 25266269, 26364767, 28851325, 30431579, 35148845
Language Disorders	Associate	24836831
Learning Disabilities	Associate	24836831
Lennox Gastaut Syndrome	Associate	25266269
Lubs X linked mental retardation syndrome	Associate	27640358
Lymphoma	Associate	2456701, 3501243
Lymphoma T Cell	Associate	2456701, 3501243
Lymphoma T Cell Peripheral	Associate	2456701, 3501243
Medulloblastoma	Associate	23852775
Mental Disorders	Associate	20736978
Microcephaly	Associate	22739344, 25266269, 35148845, 35714598
Mitochondrial Diseases	Associate	36833172
Mouth Diseases	Associate	20191052
Movement Disorders	Associate	27029630
Muscle Hypotonia	Associate	20736978, 34964776
Nasopharyngeal Carcinoma	Associate	34278485
Nasopharyngeal Neoplasms	Associate	34278485
Neoplasm Metastasis	Associate	31771611
Neoplasm Metastasis	Stimulate	34278485
Neoplasms	Inhibit	18670637
Neoplasms	Stimulate	19543511
Neoplasms	Associate	29316219, 31771611, 34278485, 9473239
Nerve Degeneration	Associate	34006186
Olfaction Disorders	Associate	34964776
Orofacial Cleft 1	Associate	26868259
Osteoporosis	Associate	34006186
Ovarian Neoplasms	Associate	19755996
Precursor Cell Lymphoblastic Leukemia Lymphoma	Inhibit	2456701
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	10655992, 1826223
Presbycusis	Associate	34006186
Rett Syndrome	Associate	18571142, 20736978, 21750574, 22415763, 22739344, 22968132, 23632790, 25266269, 25389532, 25914188, 28851325, 28947817, 29321672, 29322350, 30929312 View all (4 more)
Schizophrenia	Associate	27760116
Seizures	Associate	24836831, 35148845
Spasms Infantile	Associate	24836831
Speech Disorders	Associate	20736978, 26364767
Spinocerebellar Ataxias	Associate	30431579
Subcutaneous panniculitis like T cell lymphoma	Associate	17934071
Syndrome	Associate	28661489, 29289958, 33096386, 34964776, 37308910
Urinary Bladder Neoplasms	Associate	19543511
Vaginosis Bacterial	Associate	25266269
Vision Disorders	Associate	32541681
Zika Virus Infection	Associate	35714598

FOXG1 (forkhead box G1)