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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84662
Gene name	GLIS family zinc finger 2
Gene symbol	GLIS2
Synonyms (NCBI Gene)	NKLNPHP7
Chromosome	16
Chromosome location	16p13.3
Summary	This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral ne

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144447862	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150071733	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, synonymous variant
rs587777353	T>C	Pathogenic	Missense variant, coding sequence variant
rs753999588	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs878855335	G>T	Pathogenic	Splice donor variant

216

Show/Hide all (216)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050468	hsa-miR-22-3p	CLASH	23622248
MIRT755863	hsa-miR-3142	Luciferase reporter assayWestern blottingqRT-PCRImmunoprecipitaion (IP)Immunohistochemistry (IHC)RNA pull down assay	36574090
MIRT1021082	hsa-miR-1	CLIP-seq
MIRT1021083	hsa-miR-1205	CLIP-seq
MIRT1021084	hsa-miR-1275	CLIP-seq
MIRT1021085	hsa-miR-1293	CLIP-seq
MIRT1021086	hsa-miR-1321	CLIP-seq
MIRT1021087	hsa-miR-1324	CLIP-seq
MIRT1021088	hsa-miR-137	CLIP-seq
MIRT1021089	hsa-miR-1468	CLIP-seq
MIRT1021090	hsa-miR-1909	CLIP-seq
MIRT1021091	hsa-miR-192	CLIP-seq
MIRT1021092	hsa-miR-19a	CLIP-seq
MIRT1021093	hsa-miR-19b	CLIP-seq
MIRT1021094	hsa-miR-200b	CLIP-seq
MIRT1021095	hsa-miR-200c	CLIP-seq
MIRT1021096	hsa-miR-206	CLIP-seq
MIRT1021097	hsa-miR-214	CLIP-seq
MIRT1021098	hsa-miR-215	CLIP-seq
MIRT1021099	hsa-miR-22	CLIP-seq
MIRT1021100	hsa-miR-27a	CLIP-seq
MIRT1021101	hsa-miR-27b	CLIP-seq
MIRT1021102	hsa-miR-2861	CLIP-seq
MIRT1021103	hsa-miR-29a	CLIP-seq
MIRT1021104	hsa-miR-29b	CLIP-seq
MIRT1021105	hsa-miR-29c	CLIP-seq
MIRT1021106	hsa-miR-3126-5p	CLIP-seq
MIRT1021107	hsa-miR-3150a-3p	CLIP-seq
MIRT1021108	hsa-miR-3175	CLIP-seq
MIRT1021109	hsa-miR-3190	CLIP-seq
MIRT1021110	hsa-miR-3202	CLIP-seq
MIRT1021111	hsa-miR-323-5p	CLIP-seq
MIRT1021112	hsa-miR-329	CLIP-seq
MIRT1021113	hsa-miR-340	CLIP-seq
MIRT1021114	hsa-miR-34a	CLIP-seq
MIRT1021115	hsa-miR-34c-5p	CLIP-seq
MIRT1021116	hsa-miR-3619-5p	CLIP-seq
MIRT1021117	hsa-miR-362-3p	CLIP-seq
MIRT1021118	hsa-miR-362-5p	CLIP-seq
MIRT1021119	hsa-miR-3673	CLIP-seq
MIRT1021120	hsa-miR-3680	CLIP-seq
MIRT1021121	hsa-miR-3689d	CLIP-seq
MIRT1021122	hsa-miR-3690	CLIP-seq
MIRT1021123	hsa-miR-371-3p	CLIP-seq
MIRT1021124	hsa-miR-3918	CLIP-seq
MIRT1021125	hsa-miR-4254	CLIP-seq
MIRT1021126	hsa-miR-4257	CLIP-seq
MIRT1021127	hsa-miR-4258	CLIP-seq
MIRT1021128	hsa-miR-429	CLIP-seq
MIRT1021129	hsa-miR-4291	CLIP-seq
MIRT1021130	hsa-miR-4299	CLIP-seq
MIRT1021131	hsa-miR-4300	CLIP-seq
MIRT1021132	hsa-miR-4419a	CLIP-seq
MIRT1021133	hsa-miR-4436b-3p	CLIP-seq
MIRT1021134	hsa-miR-4447	CLIP-seq
MIRT1021135	hsa-miR-4472	CLIP-seq
MIRT1021136	hsa-miR-4483	CLIP-seq
MIRT1021137	hsa-miR-449a	CLIP-seq
MIRT1021138	hsa-miR-449b	CLIP-seq
MIRT1021139	hsa-miR-450b-5p	CLIP-seq
MIRT1021140	hsa-miR-4510	CLIP-seq
MIRT1021141	hsa-miR-4512	CLIP-seq
MIRT1021142	hsa-miR-4521	CLIP-seq
MIRT1021143	hsa-miR-4525	CLIP-seq
MIRT1021144	hsa-miR-4533	CLIP-seq
MIRT1021145	hsa-miR-4650-5p	CLIP-seq
MIRT1021146	hsa-miR-4659a-5p	CLIP-seq
MIRT1021147	hsa-miR-4659b-5p	CLIP-seq
MIRT1021148	hsa-miR-4665-5p	CLIP-seq
MIRT1021149	hsa-miR-4701-5p	CLIP-seq
MIRT1021150	hsa-miR-4710	CLIP-seq
MIRT1021151	hsa-miR-4723-5p	CLIP-seq
MIRT1021152	hsa-miR-4739	CLIP-seq
MIRT1021153	hsa-miR-4751	CLIP-seq
MIRT1021154	hsa-miR-4755-3p	CLIP-seq
MIRT1021155	hsa-miR-4756-5p	CLIP-seq
MIRT1021156	hsa-miR-4776-3p	CLIP-seq
MIRT1021157	hsa-miR-4786-3p	CLIP-seq
MIRT1021158	hsa-miR-4787-5p	CLIP-seq
MIRT1021159	hsa-miR-486-3p	CLIP-seq
MIRT1021160	hsa-miR-492	CLIP-seq
MIRT1021161	hsa-miR-500b	CLIP-seq
MIRT1021162	hsa-miR-502-5p	CLIP-seq
MIRT1021163	hsa-miR-513a-5p	CLIP-seq
MIRT1021164	hsa-miR-541	CLIP-seq
MIRT1021165	hsa-miR-549	CLIP-seq
MIRT1021166	hsa-miR-558	CLIP-seq
MIRT1021167	hsa-miR-588	CLIP-seq
MIRT1021168	hsa-miR-613	CLIP-seq
MIRT1021169	hsa-miR-615-5p	CLIP-seq
MIRT1021170	hsa-miR-625	CLIP-seq
MIRT1021171	hsa-miR-649	CLIP-seq
MIRT1021172	hsa-miR-654-5p	CLIP-seq
MIRT1021173	hsa-miR-761	CLIP-seq
MIRT1021174	hsa-miR-767-5p	CLIP-seq
MIRT1021175	hsa-miR-891b	CLIP-seq
MIRT1021176	hsa-miR-920	CLIP-seq
MIRT1021177	hsa-miR-922	CLIP-seq
MIRT1021178	hsa-miR-939	CLIP-seq
MIRT1021083	hsa-miR-1205	CLIP-seq
MIRT2002540	hsa-miR-1266	CLIP-seq
MIRT2002541	hsa-miR-1271	CLIP-seq
MIRT1021084	hsa-miR-1275	CLIP-seq
MIRT1021086	hsa-miR-1321	CLIP-seq
MIRT1021087	hsa-miR-1324	CLIP-seq
MIRT1021090	hsa-miR-1909	CLIP-seq
MIRT2002542	hsa-miR-21	CLIP-seq
MIRT1021099	hsa-miR-22	CLIP-seq
MIRT2002543	hsa-miR-2355-5p	CLIP-seq
MIRT2002544	hsa-miR-2392	CLIP-seq
MIRT1021102	hsa-miR-2861	CLIP-seq
MIRT2002545	hsa-miR-3065-3p	CLIP-seq
MIRT1021106	hsa-miR-3126-5p	CLIP-seq
MIRT2002546	hsa-miR-3127-3p	CLIP-seq
MIRT2002547	hsa-miR-3127-5p	CLIP-seq
MIRT1021107	hsa-miR-3150a-3p	CLIP-seq
MIRT2002548	hsa-miR-3154	CLIP-seq
MIRT1021108	hsa-miR-3175	CLIP-seq
MIRT2002549	hsa-miR-3188	CLIP-seq
MIRT2002550	hsa-miR-3194-5p	CLIP-seq
MIRT1021111	hsa-miR-323-5p	CLIP-seq
MIRT2002551	hsa-miR-342-5p	CLIP-seq
MIRT1021114	hsa-miR-34a	CLIP-seq
MIRT1021115	hsa-miR-34c-5p	CLIP-seq
MIRT2002552	hsa-miR-3616-3p	CLIP-seq
MIRT2002553	hsa-miR-3667-3p	CLIP-seq
MIRT2002554	hsa-miR-3675-3p	CLIP-seq
MIRT1021121	hsa-miR-3689d	CLIP-seq
MIRT1021123	hsa-miR-371-3p	CLIP-seq
MIRT1021124	hsa-miR-3918	CLIP-seq
MIRT1021126	hsa-miR-4257	CLIP-seq
MIRT2002555	hsa-miR-4270	CLIP-seq
MIRT2002556	hsa-miR-4287	CLIP-seq
MIRT1021129	hsa-miR-4291	CLIP-seq
MIRT1021131	hsa-miR-4300	CLIP-seq
MIRT1021132	hsa-miR-4419a	CLIP-seq
MIRT2002557	hsa-miR-4441	CLIP-seq
MIRT1021134	hsa-miR-4447	CLIP-seq
MIRT2002558	hsa-miR-4469	CLIP-seq
MIRT1021135	hsa-miR-4472	CLIP-seq
MIRT1021137	hsa-miR-449a	CLIP-seq
MIRT1021138	hsa-miR-449b	CLIP-seq
MIRT1021140	hsa-miR-4510	CLIP-seq
MIRT2002559	hsa-miR-4518	CLIP-seq
MIRT1021142	hsa-miR-4521	CLIP-seq
MIRT1021143	hsa-miR-4525	CLIP-seq
MIRT2002560	hsa-miR-4640-5p	CLIP-seq
MIRT2002561	hsa-miR-4664-5p	CLIP-seq
MIRT1021148	hsa-miR-4665-5p	CLIP-seq
MIRT2002562	hsa-miR-4685-3p	CLIP-seq
MIRT1021149	hsa-miR-4701-5p	CLIP-seq
MIRT1021150	hsa-miR-4710	CLIP-seq
MIRT2002563	hsa-miR-4721	CLIP-seq
MIRT1021151	hsa-miR-4723-5p	CLIP-seq
MIRT2002564	hsa-miR-4726-3p	CLIP-seq
MIRT2002565	hsa-miR-4726-5p	CLIP-seq
MIRT1021152	hsa-miR-4739	CLIP-seq
MIRT2002566	hsa-miR-4753-3p	CLIP-seq
MIRT1021154	hsa-miR-4755-3p	CLIP-seq
MIRT1021155	hsa-miR-4756-5p	CLIP-seq
MIRT1021158	hsa-miR-4787-5p	CLIP-seq
MIRT2002567	hsa-miR-4797-3p	CLIP-seq
MIRT1021159	hsa-miR-486-3p	CLIP-seq
MIRT1021164	hsa-miR-541	CLIP-seq
MIRT1021165	hsa-miR-549	CLIP-seq
MIRT1021166	hsa-miR-558	CLIP-seq
MIRT1021167	hsa-miR-588	CLIP-seq
MIRT2002568	hsa-miR-590-5p	CLIP-seq
MIRT2002569	hsa-miR-604	CLIP-seq
MIRT2002570	hsa-miR-619	CLIP-seq
MIRT1021170	hsa-miR-625	CLIP-seq
MIRT2002571	hsa-miR-647	CLIP-seq
MIRT1021172	hsa-miR-654-5p	CLIP-seq
MIRT2002572	hsa-miR-665	CLIP-seq
MIRT2002573	hsa-miR-668	CLIP-seq
MIRT2002574	hsa-miR-765	CLIP-seq
MIRT1021175	hsa-miR-891b	CLIP-seq
MIRT1021176	hsa-miR-920	CLIP-seq
MIRT1021178	hsa-miR-939	CLIP-seq
MIRT2002575	hsa-miR-96	CLIP-seq
MIRT2235559	hsa-miR-3192	CLIP-seq
MIRT1021124	hsa-miR-3918	CLIP-seq
MIRT2235560	hsa-miR-4283	CLIP-seq
MIRT2235561	hsa-miR-4292	CLIP-seq
MIRT1021131	hsa-miR-4300	CLIP-seq
MIRT1021134	hsa-miR-4447	CLIP-seq
MIRT1021135	hsa-miR-4472	CLIP-seq
MIRT2235562	hsa-miR-4492	CLIP-seq
MIRT2235563	hsa-miR-4498	CLIP-seq
MIRT2235564	hsa-miR-4505	CLIP-seq
MIRT2235565	hsa-miR-762	CLIP-seq
MIRT1021176	hsa-miR-920	CLIP-seq
MIRT1021099	hsa-miR-22	CLIP-seq
MIRT1021131	hsa-miR-4300	CLIP-seq
MIRT1021166	hsa-miR-558	CLIP-seq
MIRT1021176	hsa-miR-920	CLIP-seq
MIRT2450359	hsa-miR-4640-3p	CLIP-seq
MIRT2450360	hsa-miR-4715-3p	CLIP-seq
MIRT1021083	hsa-miR-1205	CLIP-seq
MIRT1021090	hsa-miR-1909	CLIP-seq
MIRT1021099	hsa-miR-22	CLIP-seq
MIRT2450359	hsa-miR-4640-3p	CLIP-seq
MIRT2450360	hsa-miR-4715-3p	CLIP-seq
MIRT1021153	hsa-miR-4751	CLIP-seq
MIRT2539429	hsa-miR-4803	CLIP-seq
MIRT1021160	hsa-miR-492	CLIP-seq
MIRT1021166	hsa-miR-558	CLIP-seq
MIRT2539430	hsa-miR-570	CLIP-seq
MIRT1021083	hsa-miR-1205	CLIP-seq
MIRT1021090	hsa-miR-1909	CLIP-seq
MIRT1021099	hsa-miR-22	CLIP-seq
MIRT2450359	hsa-miR-4640-3p	CLIP-seq
MIRT2450360	hsa-miR-4715-3p	CLIP-seq
MIRT1021153	hsa-miR-4751	CLIP-seq
MIRT1021160	hsa-miR-492	CLIP-seq
MIRT1021166	hsa-miR-558	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001822	Process	Kidney development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	17289029, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007417	Process	Central nervous system development	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0016607	Component	Nuclear speck	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0061005	Process	Cell differentiation involved in kidney development	IEA
GO:0061484	Process	Hematopoietic stem cell homeostasis	IEA
GO:0097730	Component	Non-motile cilium	IEA
GO:1900182	Process	Positive regulation of protein localization to nucleus	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
608539	29450	ENSG00000126603

Q9BZE0

Protein name

Zinc finger protein GLIS2 (GLI-similar 2) (Neuronal Krueppel-like protein)

Protein function

Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway (By similarity). Represses the Hedgehog-dependent expression of Wnt4 (By simila

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	235 → 257	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	263 → 287	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	293 → 317	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in kidney and at low levels in heart, lung and placenta. Expressed in colon. {ECO:0000269|PubMed:11738817, ECO:0000269|PubMed:17289029}.

Sequence

MHSLDEPLDLKLSITKLRAAREKRERTLGVVRPRALHRELGLVDDSPTPGSPGSPPSGFL
LNSKFPEKVEGRFSAAPLVDLSLSPPSGLDSPNGSSSLSPERQGNGDLPPVPSASDFQPL
RYLDGVPSSFQFFLPLGSGGALHLPASSFLTPPKDKCLSPDLPLPKQLVCRWAKCNQLFE
LLQDLVDHVNDYHVKPEKDAGYCCHWEGCARHGRGFNARYKMLIHIRTHTNEKPHRCPTC
SKSFSRLENLKIHNRSHTGEKPYVCPYEGCNKRYSNSSDRFKHTRTHYVDKPYYCKMPGC
HKRYTDPSSLRKHIKAHGHFVSHEQQELLQLRPPPKPPLPAPDGGPYVSGAQIIIPNPAA
LFGGPGLPGLPLPLAPGPLDLSALACGNGGGSGGGGGMGPGLPGPVLPLNLAKNPLLPSP
FGAGGLGLPVVSLLAGAAGGKAEGEKGRGSVPTRALGMEGHKTPLERTESSCSRPSPDGL
PLLPGTVLDLSTGVNSAASSPEALAPGWVVIPPGSVLLKPAVVN

Sequence length

524

Interactions

View interactions

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
GLIS2-related disorder	Pathogenic	rs878855335	RCV004755825	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Pathogenic	rs878855335	RCV000234831	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis 7	Pathogenic	rs878855335	RCV001824027	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE NEPHRONOPHTHISIS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS, FAMILIAL JUVENILE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (66)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute megakaryoblastic leukemia without Down syndrome	Megakaryoblastic Leukemia Without Down Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	23045605, 23407549, 28063190, 31474360, 31719049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	29371181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	29581848, 30680064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy of kidney	Atrophy Of Kidney	BEFREE	20865670, 27181777		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31779217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	24500717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37574724	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Caroli Disease	Caroli Disease	BEFREE	23559409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Caroli Disease	Caroli disease	Pubtator	23559409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	24127550, 28109323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	18227149, 21127075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	21068128, 23559409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	24500717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32968054	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	22391303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	22391303, 27181777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	20865670, 22391303, 27181777, 29779043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31141539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	23045605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrolamellar Hepatocellular Carcinoma	Hepatocellular Carcinoma	BEFREE	31474360		★★★★★ ★☆☆☆☆ 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	26155832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26155832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	29581848, 30680064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	26374130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile nephronophthisis	Nephronophthisis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	CTD_human_DG	17618285		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	26083374		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	18227149		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22094586, 28174417, 28292442, 29737430, 30592296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	31719049, 34768865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	36585521	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23407549, 24127550, 28109323, 31719049, 31825998, 32865882, 33811445, 36585521	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24127550, 28109323, 29371181, 30592296, 31825998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	28151996, 29581848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24721706, 29737430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	11401089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11401089, 30308041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	23637834, 31160637, 34768865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	24237447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30320360, 31281358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22094586, 23637834, 30308041, 30680064, 31141539, 31474360, 31779217, 31825998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	24237447		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	31825998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	22391303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15026359, 22094586, 24721706, 28977998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	17618285, 18227149, 20865670, 21127075, 22391303, 26083374, 26374130, 29779043, 31676329		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Nephronophthisis	GENOMICS_ENGLAND_DG	18227149, 23559409		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Nephronophthisis	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Nephronophthisis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHRONOPHTHISIS 7	Nephronophthisis	GENOMICS_ENGLAND_DG	17618285, 18227149, 23559409		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHRONOPHTHISIS 7	Nephronophthisis	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHRONOPHTHISIS 7	Nephronophthisis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis, familial juvenile	Nephronophthisis	ORPHANET_DG	17618285		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	31143370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	23326503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	22094586, 28151996, 28592888, 29746601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	21127075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	11401089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30320360, 31281358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30320360	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	31143370		★★★★★ ★☆☆☆☆ Found in Text Mining only

GLIS2 (GLIS family zinc finger 2)