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
• 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	IDA	15994174
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	15994174
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001501	Process	Skeletal system development	ISS
GO:0001649	Process	Osteoblast differentiation	IDA	12165851
GO:0001822	Process	Kidney development	ISS
GO:0002076	Process	Osteoblast development	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9557682, 15994174
GO:0005515	Function	Protein binding	IPI	12435627, 25670079, 26565916, 35044719
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9557682, 26565916
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007224	Process	Smoothened signaling pathway	IBA
GO:0007224	Process	Smoothened signaling pathway	IDA	15994174, 31279575
GO:0007224	Process	Smoothened signaling pathway	IEA
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:0008270	Function	Zinc ion binding	IDA	8378770
GO:0008270	Function	Zinc ion binding	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009913	Process	Epidermal cell differentiation	IDA	12165851
GO:0009954	Process	Proximal/distal pattern formation	ISS
GO:0010468	Process	Regulation of gene expression	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: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:0033089	Process	Positive regulation of T cell differentiation in thymus	ISS
GO:0035295	Process	Tube development	ISS
GO:0036064	Component	Ciliary basal body	IDA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	9557682, 15175043, 26565916
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045740	Process	Positive regulation of DNA replication	IDA	12165851
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	12165851, 15175043
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9557682, 12165851, 15994174, 16553965
GO:0046872	Function	Metal ion binding	IEA
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:0097542	Component	Ciliary tip	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:0097546	Component	Ciliary base	IEA
GO:0097546	Component	Ciliary base	TAS
GO:0098586	Process	Cellular response to virus	IDA	9557682
GO:1990788	Component	GLI-SUFU complex	ISS
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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cerebellar cyst	Pathogenic	rs2105085199	RCV001391251	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniosynostosis syndrome	Likely pathogenic	rs1340215600	RCV001849681	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Pathogenic	rs1558937172	RCV001843783	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLI2-related disorder	Likely pathogenic; Pathogenic	rs2467776444, rs2467686698, rs1553476382	RCV003400218 RCV003414463 RCV003915705	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Holoprosencephaly 9	Pathogenic; Likely pathogenic	rs2104696745, rs2467699176, rs1683230082, rs1682567886, rs2467020343, rs876661324, rs2467775195, rs2467768078, rs771980421, rs121917707, rs121917708, rs747870569, rs2467520088, rs2467770120, rs1458149576, rs1057518696, rs1057518689, rs1057518657, rs398122882, rs1553476382, rs1388607733, rs1558937172, rs778975466, rs1683179008, rs1681993062, rs1683184865	RCV001872630 RCV002283689 RCV002837878 RCV002877282 RCV003038545 RCV004796117 RCV003142287 RCV003148015 RCV003327349 RCV000014847 RCV000014848 RCV003797800 RCV003801323 RCV003802283 RCV004555967 RCV000415288 RCV000414993 RCV000415289 RCV000030729 RCV001854023 RCV000694552 RCV000699011 RCV002481813 RCV001070178 RCV001235991 RCV002246240	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Pathogenic	rs763165545	RCV001007867	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microform holoprosencephaly	Likely pathogenic; Pathogenic	rs876661323, rs876661324, rs876661325, rs876661326, rs876661327	RCV000223840 RCV000223706 RCV000223797 RCV000223883 RCV000223717	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely pathogenic; Pathogenic	rs2105019803, rs2105084620, rs2104696745, rs587777455, rs587777456, rs374155310, rs2467786089, rs1683230082, rs1682567886, rs2467020343, rs876661324, rs2467766888, rs2467768078, rs771980421, rs2467768738, rs2467778927, rs747870569, rs2467520088, rs2467770120, rs2467727114, rs1458149576, rs1553476382, rs1553478423, rs1388607733, rs1558937172, rs1573730110, rs778975466, rs1683179008, rs1681993062, rs1683184865, rs1682776554	RCV001526497 RCV001706942 RCV001872630 RCV000128396 RCV000128397 RCV000128398 RCV002465409 RCV002837878 RCV002877282 RCV003038545 RCV004796117 RCV003126294 RCV003148016 RCV006274417 RCV003333450 RCV003397191 RCV003797800 RCV003801323 RCV003802283 RCV003992047 RCV004555967 RCV001854023 RCV000625540 RCV000694552 RCV000699011 RCV001007885 RCV002481813 RCV001070178 RCV001235991 RCV001253658 RCV001262636	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriovenous malformation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOVENOUS MALFORMATIONS, CEREBRAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BASAL CELL NEVUS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIFID NOSE, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral arteriovenous malformation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT FACE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMA OF SUPERIOR EYELID	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORM	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED PITUITARY HORMONE DEFICIENCY GENETIC FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ARTERIOVENOUS MALFORMATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CULLER-JONES SYNDROME	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of sexual differentiation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOSTOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hand tremor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY	—	CTD, Disgenet CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly 1	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly sequence	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOBAR HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDDLE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Partial androgen insensitivity syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMI-LOBAR HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMILOBAR HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTOPREOPTIC HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tremor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WHITE SUTTON SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28721806		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	30001532		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	CTD_human_DG	23867347		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	25889765		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19432668		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31427566, 31697978		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28721806		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	26896768		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22160402, 26290144, 29202464, 29996106, 30554998, 30695694		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	27346851		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alobar Holoprosencephaly	Alobar Holoprosencephaly	CTD_human_DG	27585885		★☆☆☆☆ Found in Text Mining only
Alobar Holoprosencephaly	Alobar Holoprosencephaly	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Alobar holoprosencephaly	Alobar Holoprosencephaly	Orphanet			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	24481442	Stimulate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	23549991	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31417657		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	BEFREE	17096318		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anorectal atresia	Imperforate anus	BEFREE	23127126		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	29061362		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	BEFREE	24213835		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	17351635, 21946309		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	17351635, 21946309, 22835848		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	29388563		★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	CTD_human_DG	27585885		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31017267		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	27387956		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	27387956	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	28069802		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31017267		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	30622431		★☆☆☆☆ Found in Text Mining only
Axenfeld-Rieger syndrome	Axenfeld anomaly	BEFREE	25808752		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	24481442		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	LHGDN	18264131		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	CTD_human_DG	16936257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Neoplasm	Benign Neoplasm	BEFREE	30854105		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	18794086, 30864728		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	27010479		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	20488474, 29512924, 31012113		★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	39938560	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	26160166	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	11563634		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16855373, 16885353, 18636275, 26160166, 30220055, 31535669		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	18636275, 21868511, 25670079, 26160166, 26413813, 26565916, 31535669	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15175043, 28300597	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	15140221, 15175043, 19797115, 29423837, 32319607, 33509032, 35505292	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	18636275	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	18636275	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23356443, 32108992, 32398664, 35382824, 39174588	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28414325	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	20488474, 29512924, 31012113		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26936993, 30090501		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	33313950	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35266008	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33477943, 35505292	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	CTD_human_DG	10700170		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	BEFREE	12165851, 12235001, 12786818, 14691458, 15140221, 15175043, 17721996, 18264131, 18319260, 18451156, 19479712, 19797115, 23792444, 24203628, 28820907, 31436046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31128026		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	29581476		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	29581476	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29967343		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29967343		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28721806		★☆☆☆☆ Found in Text Mining only
Childhood Ganglioglioma	Ganglioglioma	BEFREE	28069802		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	26896768		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	21572341, 22160402, 26290144, 29202464, 29996106, 30554998, 30695694		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36423790, 36807728	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	31782289	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	16755518, 19647223, 30695055		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	22693617, 30641516, 30649494		★☆☆☆☆ Found in Text Mining only
Chronic schizophrenia	Schizophrenia	BEFREE	20939080		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	29342244		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	19815628		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	16327884, 24744436, 31386309	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	31386309		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	16327884, 31386309	Associate	★☆☆☆☆ Found in Text Mining only
Cleft palate and bilateral cleft lip	Cleft Palate And Bilateral Cleft Lip	BEFREE	22106008		★☆☆☆☆ Found in Text Mining only
Cleft palate and bilateral cleft lip	Cleft Palate And Bilateral Cleft Lip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11563634, 21135115, 8643486		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21135115, 21747117	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33067422	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	8643486		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28032859, 29891662		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24086482, 24962990, 29891662, 33067422, 35186110, 36573458, 36581088, 38159250	Associate	★☆☆☆☆ Found in Text Mining only
Combined pituitary hormone deficiencies, genetic forms	Pituitary Hormone Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	23408573, 27576279, 29261175, 31782289	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	24744436, 39938560	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of tibia	Tibial hemimelia	BEFREE	9027508		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	27010479		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	24481442		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Foot Deformity	Congenital deformity of foot	BEFREE	19223936		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	28057877		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31518897		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	27562488	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	31292255	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
CULLER-JONES SYNDROME	Culler-Jones Syndrome	CLINVAR_DG	14581620, 20685856		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CULLER-JONES SYNDROME	Culler-Jones Syndrome	GENOMICS_ENGLAND_DG	14581620, 20685856, 25878059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CULLER-JONES SYNDROME	Culler-Jones Syndrome	UNIPROT_DG	15994174, 20685856, 23408573, 28973407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CULLER-JONES SYNDROME	Culler-Jones Syndrome	ORPHANET_DG	24744436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CULLER-JONES SYNDROME	Culler-Jones Syndrome	BEFREE	30629636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CULLER-JONES SYNDROME	Culler-Jones Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyclocephaly	Cyclocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	31264977		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28973407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29806965		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	29882279		★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	35432193	Associate	★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	25327282		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	27576279, 39938560, 40598088	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	14581620, 15994174, 20685856, 21204792, 22967285		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	31172225		★☆☆☆☆ Found in Text Mining only
Ectopic anterior pituitary gland	Ectopic anterior pituitary gland	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	BEFREE	19223936		★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	19223936	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	31264977		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	19432668		★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	23442119		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	31286759		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	31286759		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37417427	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31816328		★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	26446020		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	28069802		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	23410206, 28119080, 28630423, 29543748, 30305138		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24086482, 29016808	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23410206, 28630423, 29880393, 30305138		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11563634, 24481442, 30305138, 30864728, 31116747		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27002148, 30730955, 36745477, 37830570	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	29935159		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Congenital heart septal defect	Pubtator	39938560	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	28370639		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	23408573, 27576279	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	14691458, 15140221, 15520176, 15994174, 16885353, 18319260, 18688029, 20512148, 21747117, 23201751, 24962990, 28673820, 30241937, 31558698		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	21531006	Associate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	14581620, 17001669, 17103456, 20685856, 21183895, 21204792, 21416594, 22106008, 22967285, 23304807, 23408573, 24706429, 24744436, 25056824, 25820550, 30548673		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	Pubtator	21204792, 23408573, 24744436, 27363716, 38096238	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	CTD_human_DG	27585885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydatidiform Mole	Hydatidiform mole	Pubtator	25265279	Inhibit	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	30641516		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29357410		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	29357410		★☆☆☆☆ Found in Text Mining only
Hyperuricemic Nephropathy, Familial Juvenile 1	Hyperuricemic Nephropathy	BEFREE	15989109, 29357410		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	14581620, 19337183, 20685856, 22967285, 23304807, 23408573, 25056824, 25878059, 30583238, 30959475		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	Pubtator	23408573, 39938560, 40598088	Associate	★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27486656	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35186110	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23023967		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	29477141	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	38203769	Stimulate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29154489		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	18636275		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29974381		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	22967285, 25878059		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kaposiform Hemangioendothelioma	Kaposiform Hemangioendothelioma	BEFREE	31092427		★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	21514272		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	30649494		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	39938560	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28721806		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34619772	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26220344, 27470583, 29200853		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	9526736		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17440069, 19212688, 21695716, 25535898, 26896768, 28414325		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	19815628		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	25535898, 28414325		★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	BEFREE	17096318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar Holoprosencephaly	Lobar Holoprosencephaly	CTD_human_DG	27585885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar Holoprosencephaly	Lobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar holoprosencephaly	Lobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	26936993, 34368867	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18636275, 26107686	Associate	★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	23826113		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16855373, 16885353, 18636275, 26160166, 26565916, 30220055, 31535669		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31286759		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26896768		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26936993, 30090501		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	9526736		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31128026		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18794086, 29231999		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	10700170		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23371028, 28847472, 28975979		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	20488474, 29512924, 31012113		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14691458, 15520176, 16755518, 16885353, 21862631, 22859956, 22968906, 23792444, 24481442, 24693967, 28847472, 28975979, 29202464, 31597162		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29967343		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11563634, 26031752, 8643486		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22052706		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	18524848		★☆☆☆☆ Found in Text Mining only
Maple Syrup Urine Disease	Maple Syrup Urine Disease	BEFREE	31376563		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	23410206		★☆☆☆☆ Found in Text Mining only
Medullary Cystic Kidney Disease Type 2	Medullary Cystic Kidney Disease	BEFREE	15989109		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	17200206, 21681522, 24493713, 26290144, 31385424, 36288719	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	22160402, 26290144, 29202464, 29996106, 30554998, 30695694		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20660365, 21801332, 22496449, 23890107, 26024388, 27748762, 31208857		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22496449, 26459048, 27748762, 31462745, 36866769	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microform holoprosencephaly	Microform Holoprosencephaly	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microphthalmia Syndromic 6	Microphthalmia	Pubtator	24744436	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	27748762		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	27748762	Stimulate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Midline interhemispheric variant of holoprosencephaly	Midline Interhemispheric Variant Of Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Miscarriage	Miscarriage	BEFREE	28057877		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	22835848		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	14581620, 15994174, 20685856, 21204792, 22967285		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11563634, 14691458, 17440069, 17721996, 18264131, 19647223, 23246966, 23871669, 25535898, 25759019, 26168014, 26201092, 27760825, 28393219, 28695772, 28847472, 29016808, 29187450, 30305138, 30793770, 31012113, 31128026, 31597162, 31664194		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	30649494		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	26446020		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19622100, 22949014, 28069802, 29581853		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19622100, 28393230	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28645738		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22115706, 30407707		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29205155		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	28144905		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	36210532	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis of vertebrae	Osteoporosis of vertebrae	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	31725199		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	22968906, 23861973, 24151134, 25085524, 25156120, 25449781, 26282181, 27460090, 28695772, 29251328		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24151134, 25085524, 28695772	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	39457084	Stimulate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31128026		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22142828, 30736319, 31896750, 32149080, 36745477	Associate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	18794086		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25807524, 35867772	Associate	★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	20685856, 22106008, 22967285, 27974184, 29261175, 30548673		★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30793770		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	14644315		★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	BEFREE	27346851		★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	31134896		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	26782791		★☆☆☆☆ Found in Text Mining only
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)	Holoprosencephaly	CLINVAR_DG	14581620, 20685856		★☆☆☆☆ Found in Text Mining only
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)	Holoprosencephaly	UNIPROT_DG	14581620, 17096318, 20685856		★☆☆☆☆ Found in Text Mining only
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)	Holoprosencephaly	GENOMICS_ENGLAND_DG	14581620, 17096318, 20685856, 25878059		★☆☆☆☆ Found in Text Mining only
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)	Holoprosencephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	BEFREE	20685856, 22967285, 27576279		★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Hormone Deficiency Combined 2	Pituitary hormone deficiency	Pubtator	21204792	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Hormone Deficiency, Combined, 1	Pituitary Hormone Deficiency	ORPHANET_DG	20685856		★☆☆☆☆ Found in Text Mining only
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	BEFREE	29165578		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	30036521		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	34873972	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	14581620		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	21204792, 23408573, 24744436, 31782289, 39938560	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	24744436, 29298444, 30583238		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	21204792, 31782289	Associate	★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	BEFREE	21204792		★☆☆☆☆ Found in Text Mining only
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Culler-Jones syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Prostate carcinoma	Prostate cancer	BEFREE	18794086, 29231999		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16651270, 18006803		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16651270, 18006803, 19797115, 21633508, 29429990, 30513511	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27793816, 30982371		★☆☆☆☆ Found in Text Mining only
Pyelonephritis	Pyelonephritis	BEFREE	15989109		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31518897		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	26193634		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	21674124, 26282181, 28069802		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	28069802	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	29423837		★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	29423837	Associate	★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	CTD_human_DG	27585885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	25056824		★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septopreoptic holoprosencephaly	Septopreoptic Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs ambiguus	Situs ambiguus	BEFREE	22106008		★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	20848446		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	33509032	Stimulate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	31436046		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	10700170		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	BEFREE	12235001, 12786818		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Disorders	Sleep Disorders	BEFREE	31172225		★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	26446020		★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	BEFREE	19223936		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21536478, 27738315		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31530388		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29507910	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23371028, 28847472, 28975979		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25694126, 28847472, 28975979	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	23410206	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	33509032	Associate	★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	25772244	Stimulate	★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	9006072		★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	28522271		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	26238488		★☆☆☆☆ Found in Text Mining only