GLI2 (GLI family zinc finger 2)

Gene

• Entrez ID: 2736
• Gene name: GLI family zinc finger 2
• Gene symbol: GLI2
• Synonyms (NCBI Gene): CJS, HPE9, PHS2, THP1, THP2
• Disease Acronyms (UniProt): CJS, HPE9
• Chromosome: 2
• Chromosome location: 2q14.2
• Summary: This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C li

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs114814747	G>A,C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign	Coding sequence variant, missense variant
rs121917707	G>A	Pathogenic	Stop gained, coding sequence variant
rs121917708	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs141988240	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs144372453	T>C	Likely-benign, benign-likely-benign, pathogenic, benign	Missense variant, coding sequence variant
rs145778937	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, synonymous variant
rs147044066	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148442092	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs149110951	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200076785	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200831069	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs372925840	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs374155310	G>A,C,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs387907277	G>A	Pathogenic	Coding sequence variant, missense variant
rs398122882	CC>-	Pathogenic	Coding sequence variant, frameshift variant
rs563818052	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587777455	CTGTCGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777456	TGAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs763165545	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs777165274	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs778975466	CT>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, intron variant
rs869312965	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs876661323	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs876661324	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs876661325	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs876661326	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs876661327	G>C	Likely-pathogenic	Stop lost, terminator codon variant
rs1057518657	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518689	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1057518696	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793857	G>C	Pathogenic	Splice donor variant
rs1388607733	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, intron variant
rs1553449159	C>-	Likely-pathogenic	Upstream transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1553471273	G>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1553476382	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553477189	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1553478423	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553479405	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558937172	G>A	Likely-pathogenic	Splice donor variant
rs1558941490	CCCACTGGGGCCGCGGCGTGGCAGCGACGGGCCGACCTATGGCCACG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1573660204	->C	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1573730110	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023940	hsa-miR-1-3p	Microarray	18668037
MIRT029923	hsa-miR-26b-5p	Microarray	19088304
MIRT049876	hsa-miR-31-5p	CLASH	23622248
MIRT054280	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	25694126
MIRT054280	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	25694126
MIRT643303	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT643302	hsa-miR-4643	HITS-CLIP	23824327
MIRT643301	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT643300	hsa-miR-466	HITS-CLIP	23824327
MIRT607555	hsa-miR-4464	HITS-CLIP	24906430
MIRT607554	hsa-miR-4748	HITS-CLIP	24906430
MIRT607553	hsa-miR-342-5p	HITS-CLIP	24906430
MIRT607552	hsa-miR-4664-5p	HITS-CLIP	24906430
MIRT607551	hsa-miR-4651	HITS-CLIP	24906430
MIRT607550	hsa-miR-608	HITS-CLIP	24906430
MIRT607549	hsa-miR-6747-5p	HITS-CLIP	24906430
MIRT607548	hsa-miR-4455	HITS-CLIP	24906430
MIRT607547	hsa-miR-3650	HITS-CLIP	24906430
MIRT607546	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607545	hsa-miR-6740-5p	HITS-CLIP	24906430
MIRT607544	hsa-miR-6737-5p	HITS-CLIP	24906430
MIRT607543	hsa-miR-6812-5p	HITS-CLIP	24906430
MIRT607542	hsa-miR-6819-5p	HITS-CLIP	24906430
MIRT607541	hsa-miR-3170	HITS-CLIP	24906430
MIRT607540	hsa-miR-6855-5p	HITS-CLIP	24906430
MIRT607539	hsa-miR-450a-2-3p	HITS-CLIP	24906430
MIRT607538	hsa-miR-4260	HITS-CLIP	24906430
MIRT607537	hsa-miR-5572	HITS-CLIP	24906430
MIRT607536	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT575450	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT575450	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT575450	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT607541	hsa-miR-3170	HITS-CLIP	27418678
MIRT607541	hsa-miR-3170	HITS-CLIP	27418678
MIRT607541	hsa-miR-3170	HITS-CLIP	27418678
MIRT607553	hsa-miR-342-5p	HITS-CLIP	27418678
MIRT607553	hsa-miR-342-5p	HITS-CLIP	27418678
MIRT607553	hsa-miR-342-5p	HITS-CLIP	27418678
MIRT607547	hsa-miR-3650	HITS-CLIP	27418678
MIRT607547	hsa-miR-3650	HITS-CLIP	27418678
MIRT607547	hsa-miR-3650	HITS-CLIP	27418678
MIRT607547	hsa-miR-3650	HITS-CLIP	27418678
MIRT607547	hsa-miR-3650	HITS-CLIP	27418678
MIRT607538	hsa-miR-4260	HITS-CLIP	27418678
MIRT607538	hsa-miR-4260	HITS-CLIP	27418678
MIRT607538	hsa-miR-4260	HITS-CLIP	27418678
MIRT607548	hsa-miR-4455	HITS-CLIP	27418678
MIRT607548	hsa-miR-4455	HITS-CLIP	27418678
MIRT607548	hsa-miR-4455	HITS-CLIP	27418678
MIRT607548	hsa-miR-4455	HITS-CLIP	27418678
MIRT607555	hsa-miR-4464	HITS-CLIP	27418678
MIRT607555	hsa-miR-4464	HITS-CLIP	27418678
MIRT607539	hsa-miR-450a-2-3p	HITS-CLIP	27418678
MIRT607539	hsa-miR-450a-2-3p	HITS-CLIP	27418678
MIRT607539	hsa-miR-450a-2-3p	HITS-CLIP	27418678
MIRT607551	hsa-miR-4651	HITS-CLIP	27418678
MIRT607551	hsa-miR-4651	HITS-CLIP	27418678
MIRT607551	hsa-miR-4651	HITS-CLIP	27418678
MIRT607552	hsa-miR-4664-5p	HITS-CLIP	27418678
MIRT607552	hsa-miR-4664-5p	HITS-CLIP	27418678
MIRT607552	hsa-miR-4664-5p	HITS-CLIP	27418678
MIRT607554	hsa-miR-4748	HITS-CLIP	27418678
MIRT607554	hsa-miR-4748	HITS-CLIP	27418678
MIRT575455	hsa-miR-541-3p	HITS-CLIP	27418678
MIRT575455	hsa-miR-541-3p	HITS-CLIP	27418678
MIRT575455	hsa-miR-541-3p	HITS-CLIP	27418678
MIRT607537	hsa-miR-5572	HITS-CLIP	27418678
MIRT607537	hsa-miR-5572	HITS-CLIP	27418678
MIRT607537	hsa-miR-5572	HITS-CLIP	27418678
MIRT575448	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575448	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575448	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575448	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575448	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607550	hsa-miR-608	HITS-CLIP	27418678
MIRT607550	hsa-miR-608	HITS-CLIP	27418678
MIRT607550	hsa-miR-608	HITS-CLIP	27418678
MIRT575454	hsa-miR-654-5p	HITS-CLIP	27418678
MIRT575454	hsa-miR-654-5p	HITS-CLIP	27418678
MIRT575454	hsa-miR-654-5p	HITS-CLIP	27418678
MIRT607544	hsa-miR-6737-5p	HITS-CLIP	27418678
MIRT607544	hsa-miR-6737-5p	HITS-CLIP	27418678
MIRT607544	hsa-miR-6737-5p	HITS-CLIP	27418678
MIRT607545	hsa-miR-6740-5p	HITS-CLIP	27418678
MIRT607545	hsa-miR-6740-5p	HITS-CLIP	27418678
MIRT607549	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT607549	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT607549	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT607549	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT575452	hsa-miR-6769a-5p	HITS-CLIP	27418678
MIRT575452	hsa-miR-6769a-5p	HITS-CLIP	27418678
MIRT575452	hsa-miR-6769a-5p	HITS-CLIP	27418678
MIRT575451	hsa-miR-6769b-5p	HITS-CLIP	27418678
MIRT575451	hsa-miR-6769b-5p	HITS-CLIP	27418678
MIRT575451	hsa-miR-6769b-5p	HITS-CLIP	27418678
MIRT607543	hsa-miR-6812-5p	HITS-CLIP	27418678
MIRT607543	hsa-miR-6812-5p	HITS-CLIP	27418678
MIRT607543	hsa-miR-6812-5p	HITS-CLIP	27418678
MIRT607542	hsa-miR-6819-5p	HITS-CLIP	27418678
MIRT607542	hsa-miR-6819-5p	HITS-CLIP	27418678
MIRT607542	hsa-miR-6819-5p	HITS-CLIP	27418678
MIRT607540	hsa-miR-6855-5p	HITS-CLIP	27418678
MIRT607540	hsa-miR-6855-5p	HITS-CLIP	27418678
MIRT607540	hsa-miR-6855-5p	HITS-CLIP	27418678
MIRT575449	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575449	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575449	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575449	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575449	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575453	hsa-miR-92a-2-5p	HITS-CLIP	27418678
MIRT575453	hsa-miR-92a-2-5p	HITS-CLIP	27418678
MIRT575453	hsa-miR-92a-2-5p	HITS-CLIP	27418678
MIRT737524	hsa-miR-34a-3p	Western blotting, Immunofluorescence, qRT-PCR	33303026
MIRT643303	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT643302	hsa-miR-4643	HITS-CLIP	23824327
MIRT643301	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT643300	hsa-miR-466	HITS-CLIP	23824327
MIRT1020888	hsa-miR-1185	CLIP-seq
MIRT1020889	hsa-miR-140-3p	CLIP-seq
MIRT1020890	hsa-miR-3119	CLIP-seq
MIRT1020891	hsa-miR-3127-3p	CLIP-seq
MIRT1020892	hsa-miR-3591-3p	CLIP-seq
MIRT1020893	hsa-miR-3605-5p	CLIP-seq
MIRT1020894	hsa-miR-3679-5p	CLIP-seq
MIRT1020895	hsa-miR-3692	CLIP-seq
MIRT1020896	hsa-miR-4292	CLIP-seq
MIRT1020897	hsa-miR-4308	CLIP-seq
MIRT1020898	hsa-miR-4715-5p	CLIP-seq
MIRT1020899	hsa-miR-541	CLIP-seq
MIRT1020900	hsa-miR-579	CLIP-seq
MIRT2002482	hsa-miR-1245b-3p	CLIP-seq
MIRT2002483	hsa-miR-29a	CLIP-seq
MIRT2002484	hsa-miR-29b	CLIP-seq
MIRT2002485	hsa-miR-29c	CLIP-seq
MIRT2002486	hsa-miR-3065-3p	CLIP-seq
MIRT2002487	hsa-miR-3181	CLIP-seq
MIRT2002488	hsa-miR-4733-3p	CLIP-seq
MIRT2002483	hsa-miR-29a	CLIP-seq
MIRT2002484	hsa-miR-29b	CLIP-seq
MIRT2002485	hsa-miR-29c	CLIP-seq
MIRT2002486	hsa-miR-3065-3p	CLIP-seq
MIRT2002487	hsa-miR-3181	CLIP-seq
MIRT2002488	hsa-miR-4733-3p	CLIP-seq
MIRT2002483	hsa-miR-29a	CLIP-seq
MIRT2002484	hsa-miR-29b	CLIP-seq
MIRT2002485	hsa-miR-29c	CLIP-seq
MIRT2437434	hsa-miR-1266	CLIP-seq
MIRT2437435	hsa-miR-31	CLIP-seq
MIRT2437436	hsa-miR-3664-3p	CLIP-seq
MIRT2437437	hsa-miR-4476	CLIP-seq
MIRT2437438	hsa-miR-4518	CLIP-seq
MIRT2437439	hsa-miR-873	CLIP-seq
MIRT2450336	hsa-miR-1285	CLIP-seq
MIRT2450337	hsa-miR-2355-5p	CLIP-seq
MIRT2450338	hsa-miR-3155	CLIP-seq
MIRT2450339	hsa-miR-3155b	CLIP-seq
MIRT2450340	hsa-miR-3187-5p	CLIP-seq
MIRT2450341	hsa-miR-326	CLIP-seq
MIRT2450342	hsa-miR-330-5p	CLIP-seq
MIRT2450343	hsa-miR-378g	CLIP-seq
MIRT2450344	hsa-miR-4486	CLIP-seq
MIRT2450345	hsa-miR-484	CLIP-seq
MIRT2450346	hsa-miR-612	CLIP-seq
MIRT2450347	hsa-miR-760	CLIP-seq
MIRT2450348	hsa-miR-885-3p	CLIP-seq
MIRT2539235	hsa-miR-3121-5p	CLIP-seq
MIRT2539236	hsa-miR-3187-3p	CLIP-seq
MIRT2539237	hsa-miR-3926	CLIP-seq
MIRT2539238	hsa-miR-3973	CLIP-seq
MIRT2539239	hsa-miR-4435	CLIP-seq
MIRT2539240	hsa-miR-4701-5p	CLIP-seq
MIRT2539241	hsa-miR-488	CLIP-seq
MIRT2539242	hsa-miR-548a-5p	CLIP-seq
MIRT2539243	hsa-miR-548ab	CLIP-seq
MIRT2539244	hsa-miR-548ak	CLIP-seq
MIRT2539245	hsa-miR-548b-5p	CLIP-seq
MIRT2539246	hsa-miR-548c-5p	CLIP-seq
MIRT2539247	hsa-miR-548d-5p	CLIP-seq
MIRT2539248	hsa-miR-548h	CLIP-seq
MIRT2539249	hsa-miR-548i	CLIP-seq
MIRT2539250	hsa-miR-548j	CLIP-seq
MIRT2539251	hsa-miR-548s	CLIP-seq
MIRT2539252	hsa-miR-548w	CLIP-seq
MIRT2539253	hsa-miR-548y	CLIP-seq
MIRT2539254	hsa-miR-559	CLIP-seq
MIRT2539255	hsa-miR-588	CLIP-seq
MIRT2539235	hsa-miR-3121-5p	CLIP-seq
MIRT2539236	hsa-miR-3187-3p	CLIP-seq
MIRT2539237	hsa-miR-3926	CLIP-seq
MIRT2539238	hsa-miR-3973	CLIP-seq
MIRT2539239	hsa-miR-4435	CLIP-seq
MIRT2539240	hsa-miR-4701-5p	CLIP-seq
MIRT2539241	hsa-miR-488	CLIP-seq
MIRT2539242	hsa-miR-548a-5p	CLIP-seq
MIRT2539243	hsa-miR-548ab	CLIP-seq
MIRT2539244	hsa-miR-548ak	CLIP-seq
MIRT2539245	hsa-miR-548b-5p	CLIP-seq
MIRT2539246	hsa-miR-548c-5p	CLIP-seq
MIRT2539247	hsa-miR-548d-5p	CLIP-seq
MIRT2539248	hsa-miR-548h	CLIP-seq
MIRT2539249	hsa-miR-548i	CLIP-seq
MIRT2539250	hsa-miR-548j	CLIP-seq
MIRT2539251	hsa-miR-548s	CLIP-seq
MIRT2539252	hsa-miR-548w	CLIP-seq
MIRT2539253	hsa-miR-548y	CLIP-seq
MIRT2539254	hsa-miR-559	CLIP-seq
MIRT2539255	hsa-miR-588	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CTNNB1	Unknown	19797115
CTNNBIP1	Unknown	19797115
SMAD3	Unknown	19797115
TP53	Unknown	18813803

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	15994174
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001501	Process	Skeletal system development	ISS
GO:0001701	Process	In utero embryonic development	IEA
GO:0001822	Process	Kidney development	ISS
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0002076	Process	Osteoblast development	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IDA	15994174
GO:0005515	Function	Protein binding	IPI	12435627, 25670079
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	26565916
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005929	Component	Cilium	ISS
GO:0005930	Component	Axoneme	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007224	Process	Smoothened signaling pathway	IBA	21873635
GO:0007224	Process	Smoothened signaling pathway	IDA	15994174, 31279575
GO:0007389	Process	Pattern specification process	ISS
GO:0007411	Process	Axon guidance	ISS
GO:0007418	Process	Ventral midline development	ISS
GO:0007442	Process	Hindgut morphogenesis	ISS
GO:0007507	Process	Heart development	ISS
GO:0008134	Function	Transcription factor binding	IPI	26565916
GO:0008270	Function	Zinc ion binding	IDA	8378770
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009954	Process	Proximal/distal pattern formation	ISS
GO:0016020	Component	Membrane	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0021508	Process	Floor plate formation	ISS
GO:0021513	Process	Spinal cord dorsal/ventral patterning	ISS
GO:0021517	Process	Ventral spinal cord development	ISS
GO:0021696	Process	Cerebellar cortex morphogenesis	ISS
GO:0021775	Process	Smoothened signaling pathway involved in ventral spinal cord interneuron specification	ISS
GO:0021776	Process	Smoothened signaling pathway involved in spinal cord motor neuron cell fate specification	IEA
GO:0021938	Process	Smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	IEA
GO:0021965	Process	Spinal cord ventral commissure morphogenesis	ISS
GO:0021983	Process	Pituitary gland development	ISS
GO:0030324	Process	Lung development	ISS
GO:0030879	Process	Mammary gland development	ISS
GO:0030902	Process	Hindbrain development	ISS
GO:0031069	Process	Hair follicle morphogenesis	IMP	15994174
GO:0031514	Component	Motile cilium	IEA
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IEA
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	ISS
GO:0035295	Process	Tube development	ISS
GO:0042475	Process	Odontogenesis of dentin-containing tooth	ISS
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	9557682, 15175043, 26565916
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045740	Process	Positive regulation of DNA replication	IDA	12165851
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	15175043
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12165851, 15994174
GO:0048566	Process	Embryonic digestive tract development	ISS
GO:0048589	Process	Developmental growth	ISS
GO:0048666	Process	Neuron development	ISS
GO:0048754	Process	Branching morphogenesis of an epithelial tube	ISS
GO:0060032	Process	Notochord regression	IEA
GO:0060513	Process	Prostatic bud formation	IEA
GO:0060603	Process	Mammary gland duct morphogenesis	IEA
GO:0060831	Process	Smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA
GO:0071407	Process	Cellular response to organic cyclic compound	IEA
GO:0090103	Process	Cochlea morphogenesis	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:0097546	Component	Ciliary base	TAS
GO:1901620	Process	Regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990841	Function	Promoter-specific chromatin binding	IDA	26565916

Other IDs

• MIM: 165230
• HGNC: 4318
• e!Ensembl: ENSG00000074047

Protein

• UniProt ID: P10070
• Protein name: Zinc finger protein GLI2 (GLI family zinc finger protein 2) (Tax helper protein)
• Protein function: Functions as a transcription regulator in the hedgehog (Hh) pathway (PubMed:18455992, PubMed:26565916). Functions as a transcriptional activator (PubMed:19878745, PubMed:24311597, PubMed:9557682). May also function as transcriptional repressor (
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	470 → 497	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	503 → 527	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	533 → 558	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	564 → 589	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in breast cancers (at protein level) (PubMed:26565916). Isoform 1 and isoform 4 are expressed in HTLV-1-infected T-cell lines (at protein level) (PubMed:9557682). Isoform 1 and isoform 2 are strongly expressed in HTLV-1-infec
• Sequence:

  METSASATASEKQEAKSGILEAAGFPDPGKKASPLVVAAAAAAAVAAQGVPQHLLPPFHA
  PLPIDMRHQEGRYHYEPHSVHGVHGPPALSGSPVISDISLIRLSPHPAGPGESPFNAPHP
  YVNPHMEHYLRSVHSSPTLSMISAARGLSPADVAQEHLKERGLFGLPAPGTTPSDYYHQM
  TLVAGHPAPYGDLLMQSGGAASAPHLHDYLNPVDVSRFSSPRVTPRLSRKRALSISPLSD
  ASLDLQRMIRTSPNSLVAYINNSRSSSAASGSYGHLSAGALSPAFTFPHPINPVAYQQIL
  SQQRGLGSAFGHTPPLIQPSPTFLAQQPMALTSINATPTQLSSSSNCLSDTNQNKQSSES
  AVSSTVNPVAIHKRSKVKTEPEGLRPASPLALTQGQVSGHGSCGCALPLSQEQLADLKED
  LDRDDCKQEAEVVIYETNCHWEDCTKEYDTQEQLVHHINNEHIHGEKKEFVCRWQACTRE
  QKPFKAQYMLVVHMRRHTGEKPHKCTFEGCSKAYSRLENLKTHLRSHTGEKPYVCEHEGC
  NKAFSNASDRAKHQNRTHSNEKPYICKIPGCTKRYTDPSSLRKHVKTVHGPDAHVTKKQR
  NDVHLRTPLLKENGDSEAGTEPGGPESTEASSTSQAVEDCLHVRAIKTESSGLCQSSPGA
  QSSCSSEPSPLGSAPNNDSGVEMPGTGPGSLGDLTALDDTPPGADTSALAAPSAGGLQLR
  KHMTTMHRFEQLKKEKLKSLKDSCSWAGPTPHTRNTKLPPLPGSGSILENFSGSGGGGPA
  GLLPNPRLSELSASEVTMLSQLQERRDSSTSTVSSAYTVSRRSSGISPYFSSRRSSEASP
  LGAGRPHNASSADSYDPISTDASRRSSEASQCSGGSGLLNLTPAQQYSLRAKYAAATGGP
  PPTPLPGLERMSLRTRLALLDAPERTLPAGCPRPLGPRRGSDGPTYGHGHAGAAPAFPHE
  APGGGARRASDPVRRPDALSLPRVQRFHSTHNVNPGPLPPCADRRGLRLQSHPSTDGGLA
  RGAYSPRPPSISENVAMEAVAAGVDGAGPEADLGLPEDDLVLPDDVVQYIKAHASGALDE
  GTGQVYPTESTGFSDNPRLPSPGLHGQRRMVAADSNVGPSAPMLGGCQLGFGAPSSLNKN
  NMPVQWNEVSSGTVDALASQVKPPPFPQGNLAVVQQKPAFGQYPGYSPQGLQASPGGLDS
  TQPHLQPRSGAPSQGIPRVNYMQQLRQPVAGSQCPGMTTTMSPHACYGQVHPQLSPSTIS
  GALNQFPQSCSNMPAKPGHLGHPQQTEVAPDPTTMGNRHRELGVPDSALAGVPPPHPVQS
  YPQQSHHLAASMSQEGYHQVPSLLPARQPGFMEPQTGPMGVATAGFGLVQPRPPLEPSPT
  GRHRGVRAVQQQLAYARATGHAMAAMPSSQETAEAVPKGAMGNMGSVPPQPPPQDAGGAP
  DHSMLYYYGQIHMYEQDGGLENLGSCQVMRSQPPQPQACQDSIQPQPLPSPGVNQVSSTV
  DSQLLEAPQIDFDAIMDDGDHSSLFSGALSPSLLHSLSQNSSRLTTPRNSLTLPSIPAGI
  SNMAVGDMSSMLTSLAEESKFLNMMT

• Sequence length: 1586

Pathways

KEGG:

Hedgehog signaling pathway
Hippo signaling pathway
Pathways in cancer
Basal cell carcinoma

Reactome:

Hedgehog 'off' state
Hedgehog 'on' state
GLI proteins bind promoters of Hh responsive genes to promote transcription

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Basal cell neoplasm	Basal Cell Nevus Syndrome	rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813	16936257
Carcinoma	Carcinoma, Basal Cell	rs121912654, rs555607708, rs786202962, rs1564055259	10700170
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Culler-jones syndrome	CULLER-JONES SYNDROME, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	rs587777455, rs587777456, rs374155310, rs1553478423, rs1573730110	14581620, 15994174, 20685856, 24744436, 23408573, 28973407, 25878059
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Gastrointestinal stromal tumor	Gastrointestinal Stromal Tumors, Gastrointestinal Stromal Sarcoma	rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512, rs267607032, rs387906780, rs201286421, rs587778661, rs587781270, rs587782243, rs74315370, rs587782703, rs786203457, rs764575966, rs786203251, rs587782604, rs200245469, rs397516836, rs786202732, rs786201161, rs786201063, rs751000085, rs869025568, rs876660642, rs876658713, rs151170408, rs878854632, rs752360961, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs121913514, rs1057519713, rs778582853, rs1060503757, rs1060502521, rs1060502543, rs898854295, rs981049067, rs916516745, rs1553887262, rs1057520032, rs1553887960, rs775143272, rs1560395607, rs1560418178, rs751904543, rs1560420761, rs1560417385, rs1560417396, rs1560417427, rs1560417438, rs1560417535, rs1560417642, rs1560417666, rs1560417673, rs1577992594, rs1577995761, rs1578003055, rs1301704156, rs1734957331	27793025
Hemangioma	Hemangioma	rs121917766
Holoprosencephaly	Holoprosencephaly, PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)	rs121917878, rs121917879, rs121917880, rs1572624159, rs137853021, rs397515364, rs397515365, rs2147483647, rs121909067, rs121909070, rs199476093, rs28936675, rs104894044, rs104894045, rs104894040, rs104894042, rs397515375, rs104894046, rs104894048, rs397515376, rs104894050, rs104894051, rs104894053, rs267607047, rs121917707, rs121917708, rs1594290658, rs387906867, rs387906995, rs387906996, rs387906997, rs398122882, rs397515499, rs397515500, rs397515502, rs587778786, rs587778788, rs587778789, rs587778792, rs146990376, rs587778799, rs587778803, rs587778805, rs587778806, rs794729641, rs864622212, rs876661335, rs876661331, rs876661330, rs876661329, rs886042458, rs1057518696, rs1057518689, rs1057518657, rs1057518660, rs763132615, rs1060499564, rs1060499563, rs1060499562, rs1554691658, rs1555332362, rs753473749, rs1554493810, rs1555332361, rs756225250, rs1554495331, rs528376963, rs1555650923, rs1554834892, rs139565972, rs1554834889, rs1490604080, rs1553337688, rs1554493607, rs1420292012, rs779093031, rs1555332212, rs1456001894, rs1558420022, rs1566405714, rs1567417422, rs1569507848, rs1584800601, rs1594291863, rs1584805934, rs1584806077, rs1594292057, rs1584800607, rs2053256914, rs1317614761, rs2057753419	27585885, 25878059, 14581620, 20685856, 17096318
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Hypothyroidism	Hypothyroidism, Secondary hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Lobar holoprosencephaly	Lobar Holoprosencephaly	rs121909645	27585885
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Microform holoprosencephaly	Microform holoprosencephaly	rs876661323, rs876661324, rs876661325, rs876661326, rs876661327, rs876661333
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	14581620, 21204792, 15994174, 22967285, 20685856
Pituitary hormone deficiency	Pituitary Hormone Deficiency, Combined, 1, Combined pituitary hormone deficiencies, genetic forms	rs104893754, rs104893756, rs104893757, rs104893759, rs104893760, rs104893761, rs104893762, rs587776798, rs104893758, rs104893763, rs104893764, rs104893765, rs587776799, rs104893766, rs370761964, rs515726221, rs606231411, rs772390221, rs754584667, rs777223697, rs777833871, rs1559614730	20685856
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987	14581620
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	rs876661334, rs876661329, rs876661328	27585885
Syndromic microphthalmia	Anophthalmos	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457, rs786205884, rs786205224, rs869025222, rs869025221, rs886037853, rs755000701, rs1243762658, rs1555350223, rs1555350156, rs1553637470, rs1566622571, rs1603289774, rs1603289772, rs1579099615, rs1594952111, rs1575553528, rs1575553547, rs1594952007, rs1701696937
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288

Unknown
Disease term	Disease name	Evidence	References	Source
Ambiguous genitalia	Ambiguous Genitalia			ClinVar
Asthma	Asthma			ClinVar
Cleft palate and bilateral cleft lip	Cleft palate and bilateral cleft lip			ClinVar
Pituitary Hormone Deficiency	combined pituitary hormone deficiencies, genetic form			GenCC
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Diabetes	Diabetes			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	34368867, 36311801, 37280069
Adenoma Pleomorphic	Associate	21553343
Aksu von Stockhausen syndrome	Associate	21204792
Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis	Associate	24744436
Aneuploidy	Stimulate	24481442
Anodontia	Associate	23549991
Anorectal Malformations	Associate	23127126
Asthma	Associate	27387956
Blister	Associate	39938560
Bone Diseases	Associate	26160166
Breast Neoplasms	Associate	18636275, 21868511, 25670079, 26160166, 26413813, 26565916, 31535669
Carcinogenesis	Associate	15175043, 28300597
Carcinoma Basal Cell	Associate	15140221, 15175043, 19797115, 29423837, 32319607, 33509032, 35505292
Carcinoma Ductal	Associate	18636275
Carcinoma Ductal Breast	Associate	18636275
Carcinoma Hepatocellular	Associate	23356443, 32108992, 32398664, 35382824, 39174588
Carcinoma Hepatocellular	Inhibit	28414325
Carcinoma Non Small Cell Lung	Associate	30407707, 31931858, 37950038
Carcinoma Ovarian Epithelial	Associate	33313950
Carcinoma Renal Cell	Associate	35266008
Carcinoma Squamous Cell	Associate	33477943, 35505292
Celiac Disease	Associate	29581476
Cholangiocarcinoma	Associate	36423790, 36807728
Cholestasis	Associate	31782289
Choriocarcinoma	Inhibit	25265279
Chromosome Aberrations	Stimulate	24481442
Cleft Lip	Associate	16327884, 24744436, 31386309
Cleft Palate	Associate	16327884, 31386309
Colonic Neoplasms	Associate	21135115, 21747117
Colonic Neoplasms	Stimulate	33067422
Colorectal Neoplasms	Associate	24086482, 24962990, 29891662, 33067422, 35186110, 36573458, 36581088, 38159250
Combined Pituitary Hormone Deficiency	Associate	23408573, 27576279, 29261175, 31782289
Congenital Abnormalities	Associate	24744436, 39938560
Conversion Disorder	Associate	23408573
Coxa Magna	Associate	38096238
Craniopharyngioma	Associate	27562488
Craniosynostoses	Associate	31292255
Dermatitis Perioral	Associate	29423837
Developmental Defects of Enamel	Associate	27576279
Disorders of Sex Development	Associate	35432193
Drug Related Side Effects and Adverse Reactions	Associate	38159250
Dwarfism Pituitary	Associate	27576279, 39938560, 40598088
Ectrodactyly	Associate	19223936
Esophageal Squamous Cell Carcinoma	Associate	37417427
Foot Deformities	Associate	19223936
Forebrain Defects	Associate	21204792
Genomic Instability	Stimulate	24481442
Glioblastoma	Associate	24086482, 29016808
Glioma	Associate	27002148, 30730955, 36745477, 37830570
Heart Septal Defects	Associate	39938560
Hemochromatosis	Associate	23408573, 27576279
Histiocytosis Langerhans Cell	Associate	22949932
Hodgkin Disease	Associate	21531006
Holoprosencephaly	Associate	21204792, 23408573, 24744436, 27363716, 38096238
Hydatidiform Mole	Inhibit	25265279
Hypopituitarism	Associate	23408573, 39938560, 40598088
Hypoxia	Associate	27486656
Hypoxia	Stimulate	35186110
Hypoxia Brain	Stimulate	29891662
Idiopathic Pulmonary Fibrosis	Associate	29477141
Idiopathic Pulmonary Fibrosis	Stimulate	38203769
Jackson Weiss syndrome	Associate	31782289
Ketosis	Associate	40140215
Kidney Diseases	Associate	39938560
Leiomyoma of vulva and esophagus	Associate	36745477
Leukemia Lymphocytic Chronic B Cell	Associate	19074837
Leukemia Myeloid Acute	Associate	34619772
Lung Neoplasms	Associate	26936993, 34368867
Lymphatic Metastasis	Associate	18636275, 26107686
Lymphoma Large B Cell Diffuse	Associate	19593328
Medulloblastoma	Associate	17200206, 21681522, 24493713, 26290144, 31385424, 36288719
Melanoma	Associate	22496449, 26459048, 27748762, 31462745, 36866769
Mexican Cardiomelic Dysplasia	Associate	39938560
Microphthalmia Syndromic 6	Associate	24744436
Microphthalmos	Stimulate	27748762
Mohr Tranebjaerg syndrome	Stimulate	33125122
Neoplasm Metastasis	Stimulate	23356443
Neoplasm Metastasis	Associate	25670079, 32398664
Neoplasms	Associate	19015636, 22859956, 24481442, 24962990, 25670079, 26459048, 26936993, 28695772, 28975979, 29016808, 30201866, 31588709, 32879407, 35266008, 35505292, 35508126, 35867772, 36288719, 36423790, 36745477, 37280069, 38159250, 40140215
Neoplasms	Inhibit	21095584, 31462745
Neoplasms	Stimulate	28847472, 33067422, 35186110, 36807728
Neoplasms Germ Cell and Embryonal	Associate	31588709
Neuroblastoma	Associate	19622100, 28393230
Neurocognitive Disorders	Associate	39938560
Nevus Pigmented	Associate	33509032
Non Muscle Invasive Bladder Neoplasms	Associate	20858759
Odontogenic Tumors	Associate	23951062
Oncogene Addiction	Stimulate	19015636
Orofacial Cleft 1	Associate	36210532
Ossification of Posterior Longitudinal Ligament	Associate	32350355
Osteosarcoma	Associate	24151134, 25085524, 28695772
Osteosarcoma	Stimulate	39457084
Ovarian Neoplasms	Associate	22142828, 30736319, 31896750, 32149080, 36745477
Pancreatic Neoplasms	Associate	25807524, 35867772
Persistent Fetal Circulation Syndrome	Associate	23034409
Pituitary Diseases	Associate	21204792, 23408573, 27576279, 31782289
Pituitary Hormone Deficiency Combined 2	Associate	21204792
Polycystic Ovary Syndrome	Associate	34873972
Polydactyly	Associate	21204792, 23408573, 24744436, 31782289, 39938560
Polydactyly Postaxial	Associate	21204792, 31782289
Preauricular Tag Isolated Autosomal Dominant 1	Associate	33509032
Prostatic Neoplasms	Associate	16651270, 18006803, 19797115, 21633508, 29429990, 30513511
Prostatic Neoplasms Castration Resistant	Associate	30513511
Prostatitis	Associate	18006803
Respiratory Insufficiency	Associate	29682088
Rhabdomyosarcoma	Associate	28069802
Schilbach Rott Syndrome Ocular Hypotelorism Submucosal Cleft Palate and Hypospadias	Associate	24744436
Sebaceous Gland Neoplasms	Associate	29423837
Sex Chromosome Disorders of Sex Development	Associate	33424767
Skin Diseases	Stimulate	33509032
Squamous Cell Carcinoma of Head and Neck	Associate	29507910
Stomach Neoplasms	Associate	25694126, 28847472, 28975979
Syndrome	Associate	39938560
Thyroid cancer medullary	Associate	23410206
Thyroid Hormone Resistance Syndrome	Associate	33509032
Tourette Syndrome	Stimulate	25772244
Translocation Genetic	Stimulate	24481442
Wyburn Mason's syndrome	Associate	31782289