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	169792
Gene name	GLIS family zinc finger 3
Gene symbol	GLIS3
Synonyms (NCBI Gene)	NDHZNF515
Chromosome	9
Chromosome location	9p24.2
Summary	This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the develo

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs114838275	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs148168366	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, intron variant, genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs868197660	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs869320723	->G	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs879255608	G>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs879255609	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1586744173	->AG	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant

232

Show/Hide all (232)

miRTarBase ID	miRNA	Experiments	Reference
MIRT657782	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT657781	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT657779	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT657780	hsa-miR-3655	HITS-CLIP	23824327
MIRT657778	hsa-miR-3909	HITS-CLIP	23824327
MIRT657777	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT657776	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT657775	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT657774	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT657772	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT657773	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT657771	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT448804	hsa-miR-548az-5p	PAR-CLIP	22100165
MIRT448803	hsa-miR-548t-5p	PAR-CLIP	22100165
MIRT448802	hsa-miR-3609	PAR-CLIP	22100165
MIRT448801	hsa-miR-548ah-5p	PAR-CLIP	22100165
MIRT448800	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT448799	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT440564	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440564	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT733110	hsa-miR-644a	ImmunofluorescenceIn situ hybridizationLuciferase reporter assayqRT-PCRWestern blotting	33520363
MIRT657782	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT657781	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT657779	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT657780	hsa-miR-3655	HITS-CLIP	23824327
MIRT657778	hsa-miR-3909	HITS-CLIP	23824327
MIRT657777	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT657776	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT657775	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT657774	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT657772	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT657773	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT657771	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT448804	hsa-miR-548az-5p	PAR-CLIP	22100165
MIRT448803	hsa-miR-548t-5p	PAR-CLIP	22100165
MIRT448802	hsa-miR-3609	PAR-CLIP	22100165
MIRT448801	hsa-miR-548ah-5p	PAR-CLIP	22100165
MIRT448800	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT448799	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT1021179	hsa-miR-106a	CLIP-seq
MIRT1021180	hsa-miR-106b	CLIP-seq
MIRT1021181	hsa-miR-1245b-3p	CLIP-seq
MIRT1021182	hsa-miR-1273	CLIP-seq
MIRT1021183	hsa-miR-1286	CLIP-seq
MIRT1021184	hsa-miR-1304	CLIP-seq
MIRT1021185	hsa-miR-1324	CLIP-seq
MIRT1021186	hsa-miR-17	CLIP-seq
MIRT1021187	hsa-miR-2054	CLIP-seq
MIRT1021188	hsa-miR-20a	CLIP-seq
MIRT1021189	hsa-miR-20b	CLIP-seq
MIRT1021190	hsa-miR-302a	CLIP-seq
MIRT1021191	hsa-miR-302b	CLIP-seq
MIRT1021192	hsa-miR-302c	CLIP-seq
MIRT1021193	hsa-miR-302d	CLIP-seq
MIRT1021194	hsa-miR-302e	CLIP-seq
MIRT1021195	hsa-miR-3074-5p	CLIP-seq
MIRT1021196	hsa-miR-3173-3p	CLIP-seq
MIRT1021197	hsa-miR-361-3p	CLIP-seq
MIRT1021198	hsa-miR-3616-3p	CLIP-seq
MIRT1021199	hsa-miR-3677-5p	CLIP-seq
MIRT1021200	hsa-miR-3683	CLIP-seq
MIRT1021201	hsa-miR-370	CLIP-seq
MIRT1021202	hsa-miR-372	CLIP-seq
MIRT1021203	hsa-miR-373	CLIP-seq
MIRT1021204	hsa-miR-375	CLIP-seq
MIRT1021205	hsa-miR-380	CLIP-seq
MIRT1021206	hsa-miR-3915	CLIP-seq
MIRT1021207	hsa-miR-3924	CLIP-seq
MIRT1021208	hsa-miR-3926	CLIP-seq
MIRT1021209	hsa-miR-3928	CLIP-seq
MIRT1021210	hsa-miR-3944-5p	CLIP-seq
MIRT1021211	hsa-miR-4302	CLIP-seq
MIRT1021212	hsa-miR-431	CLIP-seq
MIRT1021213	hsa-miR-4433	CLIP-seq
MIRT1021214	hsa-miR-4436b-5p	CLIP-seq
MIRT1021215	hsa-miR-4446-3p	CLIP-seq
MIRT1021216	hsa-miR-4446-5p	CLIP-seq
MIRT1021217	hsa-miR-4455	CLIP-seq
MIRT1021218	hsa-miR-4475	CLIP-seq
MIRT1021219	hsa-miR-4476	CLIP-seq
MIRT1021220	hsa-miR-4495	CLIP-seq
MIRT1021221	hsa-miR-4533	CLIP-seq
MIRT1021222	hsa-miR-4653-3p	CLIP-seq
MIRT1021223	hsa-miR-4663	CLIP-seq
MIRT1021224	hsa-miR-4699-5p	CLIP-seq
MIRT1021225	hsa-miR-4709-3p	CLIP-seq
MIRT1021226	hsa-miR-4721	CLIP-seq
MIRT1021227	hsa-miR-4722-5p	CLIP-seq
MIRT1021228	hsa-miR-4779	CLIP-seq
MIRT1021229	hsa-miR-508-3p	CLIP-seq
MIRT1021230	hsa-miR-511	CLIP-seq
MIRT1021231	hsa-miR-519d	CLIP-seq
MIRT1021232	hsa-miR-520a-3p	CLIP-seq
MIRT1021233	hsa-miR-520b	CLIP-seq
MIRT1021234	hsa-miR-520c-3p	CLIP-seq
MIRT1021235	hsa-miR-520d-3p	CLIP-seq
MIRT1021236	hsa-miR-520e	CLIP-seq
MIRT1021237	hsa-miR-520f	CLIP-seq
MIRT1021238	hsa-miR-520g	CLIP-seq
MIRT1021239	hsa-miR-520h	CLIP-seq
MIRT1021240	hsa-miR-548a-5p	CLIP-seq
MIRT1021241	hsa-miR-548ab	CLIP-seq
MIRT1021242	hsa-miR-548ak	CLIP-seq
MIRT1021243	hsa-miR-548b-5p	CLIP-seq
MIRT1021244	hsa-miR-548c-5p	CLIP-seq
MIRT1021245	hsa-miR-548d-5p	CLIP-seq
MIRT1021246	hsa-miR-548h	CLIP-seq
MIRT1021247	hsa-miR-548i	CLIP-seq
MIRT1021248	hsa-miR-548j	CLIP-seq
MIRT1021249	hsa-miR-548s	CLIP-seq
MIRT1021250	hsa-miR-548w	CLIP-seq
MIRT1021251	hsa-miR-548y	CLIP-seq
MIRT1021252	hsa-miR-555	CLIP-seq
MIRT1021253	hsa-miR-559	CLIP-seq
MIRT1021254	hsa-miR-653	CLIP-seq
MIRT1021255	hsa-miR-93	CLIP-seq
MIRT1021256	hsa-miR-1238	CLIP-seq
MIRT1021181	hsa-miR-1245b-3p	CLIP-seq
MIRT1021182	hsa-miR-1273	CLIP-seq
MIRT1021184	hsa-miR-1304	CLIP-seq
MIRT1021185	hsa-miR-1324	CLIP-seq
MIRT1021257	hsa-miR-181a	CLIP-seq
MIRT1021258	hsa-miR-181b	CLIP-seq
MIRT1021259	hsa-miR-181c	CLIP-seq
MIRT1021260	hsa-miR-181d	CLIP-seq
MIRT1021195	hsa-miR-3074-5p	CLIP-seq
MIRT1021261	hsa-miR-3163	CLIP-seq
MIRT1021196	hsa-miR-3173-3p	CLIP-seq
MIRT1021198	hsa-miR-3616-3p	CLIP-seq
MIRT1021262	hsa-miR-3671	CLIP-seq
MIRT1021200	hsa-miR-3683	CLIP-seq
MIRT1021201	hsa-miR-370	CLIP-seq
MIRT1021205	hsa-miR-380	CLIP-seq
MIRT1021206	hsa-miR-3915	CLIP-seq
MIRT1021207	hsa-miR-3924	CLIP-seq
MIRT1021209	hsa-miR-3928	CLIP-seq
MIRT1021263	hsa-miR-4262	CLIP-seq
MIRT1021219	hsa-miR-4476	CLIP-seq
MIRT1021220	hsa-miR-4495	CLIP-seq
MIRT1021221	hsa-miR-4533	CLIP-seq
MIRT1021222	hsa-miR-4653-3p	CLIP-seq
MIRT1021223	hsa-miR-4663	CLIP-seq
MIRT1021264	hsa-miR-4691-5p	CLIP-seq
MIRT1021265	hsa-miR-4720-5p	CLIP-seq
MIRT1021226	hsa-miR-4721	CLIP-seq
MIRT1021266	hsa-miR-4769-3p	CLIP-seq
MIRT1021228	hsa-miR-4779	CLIP-seq
MIRT1021267	hsa-miR-4799-3p	CLIP-seq
MIRT1021268	hsa-miR-548aa	CLIP-seq
MIRT1021252	hsa-miR-555	CLIP-seq
MIRT1021269	hsa-miR-579	CLIP-seq
MIRT1021270	hsa-miR-664	CLIP-seq
MIRT2002576	hsa-miR-1267	CLIP-seq
MIRT2002577	hsa-miR-129-5p	CLIP-seq
MIRT1021190	hsa-miR-302a	CLIP-seq
MIRT1021191	hsa-miR-302b	CLIP-seq
MIRT1021192	hsa-miR-302c	CLIP-seq
MIRT1021193	hsa-miR-302d	CLIP-seq
MIRT1021194	hsa-miR-302e	CLIP-seq
MIRT1021195	hsa-miR-3074-5p	CLIP-seq
MIRT1021196	hsa-miR-3173-3p	CLIP-seq
MIRT1021201	hsa-miR-370	CLIP-seq
MIRT1021202	hsa-miR-372	CLIP-seq
MIRT1021203	hsa-miR-373	CLIP-seq
MIRT1021206	hsa-miR-3915	CLIP-seq
MIRT1021209	hsa-miR-3928	CLIP-seq
MIRT2002578	hsa-miR-3977	CLIP-seq
MIRT1021215	hsa-miR-4446-3p	CLIP-seq
MIRT1021219	hsa-miR-4476	CLIP-seq
MIRT2002579	hsa-miR-4506	CLIP-seq
MIRT1021221	hsa-miR-4533	CLIP-seq
MIRT1021223	hsa-miR-4663	CLIP-seq
MIRT1021226	hsa-miR-4721	CLIP-seq
MIRT1021228	hsa-miR-4779	CLIP-seq
MIRT1021232	hsa-miR-520a-3p	CLIP-seq
MIRT1021233	hsa-miR-520b	CLIP-seq
MIRT1021234	hsa-miR-520c-3p	CLIP-seq
MIRT1021235	hsa-miR-520d-3p	CLIP-seq
MIRT1021236	hsa-miR-520e	CLIP-seq
MIRT1021237	hsa-miR-520f	CLIP-seq
MIRT2235566	hsa-miR-3199	CLIP-seq
MIRT2235567	hsa-miR-4318	CLIP-seq
MIRT1021214	hsa-miR-4436b-5p	CLIP-seq
MIRT2235568	hsa-miR-4463	CLIP-seq
MIRT1021190	hsa-miR-302a	CLIP-seq
MIRT1021191	hsa-miR-302b	CLIP-seq
MIRT1021192	hsa-miR-302c	CLIP-seq
MIRT1021193	hsa-miR-302d	CLIP-seq
MIRT1021194	hsa-miR-302e	CLIP-seq
MIRT1021195	hsa-miR-3074-5p	CLIP-seq
MIRT2388501	hsa-miR-3145-3p	CLIP-seq
MIRT1021196	hsa-miR-3173-3p	CLIP-seq
MIRT2388502	hsa-miR-323b-3p	CLIP-seq
MIRT1021201	hsa-miR-370	CLIP-seq
MIRT1021202	hsa-miR-372	CLIP-seq
MIRT1021203	hsa-miR-373	CLIP-seq
MIRT1021206	hsa-miR-3915	CLIP-seq
MIRT1021209	hsa-miR-3928	CLIP-seq
MIRT1021219	hsa-miR-4476	CLIP-seq
MIRT1021221	hsa-miR-4533	CLIP-seq
MIRT1021223	hsa-miR-4663	CLIP-seq
MIRT2388503	hsa-miR-4768-5p	CLIP-seq
MIRT1021228	hsa-miR-4779	CLIP-seq
MIRT1021232	hsa-miR-520a-3p	CLIP-seq
MIRT1021233	hsa-miR-520b	CLIP-seq
MIRT1021234	hsa-miR-520c-3p	CLIP-seq
MIRT1021235	hsa-miR-520d-3p	CLIP-seq
MIRT1021236	hsa-miR-520e	CLIP-seq
MIRT2539431	hsa-miR-29a	CLIP-seq
MIRT2539432	hsa-miR-29b	CLIP-seq
MIRT2539433	hsa-miR-29c	CLIP-seq
MIRT2539434	hsa-miR-3148	CLIP-seq
MIRT2539435	hsa-miR-3189-5p	CLIP-seq
MIRT2539436	hsa-miR-3659	CLIP-seq
MIRT2539437	hsa-miR-3688-3p	CLIP-seq
MIRT2539438	hsa-miR-455-5p	CLIP-seq
MIRT2539439	hsa-miR-4658	CLIP-seq
MIRT2539440	hsa-miR-4668-3p	CLIP-seq
MIRT2539441	hsa-miR-4684-5p	CLIP-seq
MIRT2539442	hsa-miR-4712-5p	CLIP-seq
MIRT2388503	hsa-miR-4768-5p	CLIP-seq
MIRT2539443	hsa-miR-518d-5p	CLIP-seq
MIRT2539444	hsa-miR-519b-5p	CLIP-seq
MIRT2539445	hsa-miR-519c-5p	CLIP-seq
MIRT2539446	hsa-miR-520c-5p	CLIP-seq
MIRT2539447	hsa-miR-526a	CLIP-seq
MIRT2539448	hsa-miR-550a	CLIP-seq
MIRT2539449	hsa-miR-570	CLIP-seq
MIRT2539450	hsa-miR-574-5p	CLIP-seq
MIRT2539451	hsa-miR-576-3p	CLIP-seq
MIRT1021269	hsa-miR-579	CLIP-seq
MIRT2539452	hsa-miR-770-5p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	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:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	14500813, 18263616
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	ISS	14500813
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	14500813, 18263616
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 20211142, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	14500813, 18263616
GO:0046872	Function	Metal ion binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
610192	28510	ENSG00000107249

Q8NEA6

Protein name

Zinc finger protein GLIS3 (GLI-similar 3) (Zinc finger protein 515)

Protein function

Acts both as a repressor and an activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	413 → 436	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	472 → 496	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: In the adult, expressed at high levels in the kidney and at lower levels in the brain, skeletal muscle, pancreas, liver, lung, thymus and ovary. {ECO:0000269|PubMed:14500813}.

Sequence

MMVQRLGLISPPASQVSTACNQISPSLQRAMNAANLNIPPSDTRSLISRESLASTTLSLT
ESQSASSMKQEWSQGYRALPSLSNHGSQNGLDLGDLLSLPPGTSMSSNSVSNSLPSYLFG
TESSHSPYPSPRHSSTRSHSARSKKRALSLSPLSDGIGIDFNTIIRTSPTSLVAYINGSR
ASPANLSPQPEVYGHFLGVRGSCIPQPRPVPGSQKGVLVAPGGLALPAYGEDGALEHERM
QQLEHGGLQPGLVNHMVVQHGLPGPDSQSAGLFKTERLEEFPGSTVDLPPAPPLPPLPPP
PGPPPPYHAHAHLHHPELGPHAQQLALPQATLDDDGEMDGIGGKHCCRWIDCSALYDQQE
ELVRHIEKVHIDQRKGEDFTCFWAGCPRRYKPFNARYKLLIHMRVHSGEKPNKCTFEGCE
KAFSRLENLKIHLRSHTGEKPYLCQHPGCQKAFSNSSDRAKHQRTHLDTKPYACQIPGCT
KRYTDPSSLRKHVKAHSSKEQQARKKLRSSTELHPDLLTDCLTVQSLQPATSPRDAAAEG
TVGRSPGPGPDLYSAPIFSSNYSSRSGTAAGAVPPPHPVSHPSPGHNVQGSPHNPSSQLP
PLTAVDAGAERFAPSAPSPHHISPRRVPAPSSILQRTQPPYTQQPSGSHLKSYQPETNSS
FQPNGIHVHGFYGQLQKFCPPHYPDSQRIVPPVSSCSVVPSFEDCLVPTSMGQASFDVFH
RAFSTHSGITVYDLPSSSSSLFGESLRSGAEDATFLQISTVDRCPSQLSSVYTEG

Sequence length

775

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
GLIS3-related disorder	Likely pathogenic	rs765684343	RCV003894070	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal diabetes mellitus with congenital hypothyroidism	Pathogenic; Likely pathogenic	rs869320723, rs879255608, rs868197660, rs879255609, rs773807925, rs765684343, rs1586744173	RCV000001388 RCV000239543 RCV000239596 RCV000239491 RCV003228657 RCV005051417 RCV000826113 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (57)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGLE CLOSURE GLAUCOMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY ATRESIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital aniridia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypothyroidism	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes mellitus	Benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, ANGLE-CLOSURE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEONATAL DIABETES, CONGENITAL HYPOTHYROIDISM, CONGENITAL GLAUCOMA, HEPATIC FIBROSIS, POLYCYSTIC KIDNEY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPROSTHETIC OSTEOLYSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ANGLE CLOSURE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transitory neonatal diabetes mellitus	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	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 (116)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	31474360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	28846454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	23562540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	33935973	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	CTD_human_DG	27064256		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	30399154, 31377279		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23856252, 28846454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	28253873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG	19430480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal atresia syndrome	Pubtator	26259131, 28253873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	33935973	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30804561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	22391303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	16715098, 21139041, 26259131, 28215547, 28253873, 28523428, 28648506, 29083325, 29146476, 29779043, 31797737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hypothyroidism	Congenital Hypothyroidism	GENOMICS_ENGLAND_DG	16715098		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	27148679, 28253873, 33935973, 34093443, 34200080	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hypothyroidism	Congenital Hypothyroidism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20002769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	26259131, 28253873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	28253873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	19481545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	19273592, 19481545, 20865670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29858052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASCAT_DG	30664745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	28846454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34093443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	20865670, 23737756, 27813676, 27899417, 28056894, 28520980, 29992946, 31340201, 31415576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	29947923, 36313769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19481545, 20865670, 23737756, 27813676, 27899417, 28056894, 28520980, 29992946, 31340201, 31415576		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes Mellitus	Diabetes mellitus	Pubtator	22662265, 26839896, 28253873, 28520980, 29246973, 29436472, 31415576, 33376132, 34093443, 35246208, 37897565	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes Mellitus Neonatal with Congenital Hypothyroidism	Neonatal diabetes mellitus	Pubtator	33935973	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	26259131, 27148679, 28253873, 33935973, 37897565	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19430480, 26053495, 28520980, 31455420, 31558544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21103350, 21747906, 21949744, 22662265, 22961080, 24086726, 24953961, 26053495, 29606121, 31123324, 31145772, 31415576, 33830302, 35246208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	19430480		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	19430480, 21980299		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	19430480, 25751624		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	23856252, 27035557, 27899417, 28597135		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG	19430480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	Diabetes Mellitus With Congenital Hypothyroidism	GENOMICS_ENGLAND_DG	12966531, 16715098		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	Diabetes Mellitus With Congenital Hypothyroidism	ORPHANET_DG	16715098		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	Diabetes Mellitus With Congenital Hypothyroidism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	Diabetes Mellitus With Congenital Hypothyroidism	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21103350, 21747906, 21949744, 22391303, 22992776, 23737756, 26053495, 26919830, 27035557, 27813676, 27862917, 27899417, 28056894, 28911974, 29779043 View all (4 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	22158537, 22885922, 22961080, 26818947, 28736931, 28869590, 30054458, 30595370, 30718926		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	22158537		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	22158537, 22885922, 22961080, 23300278, 24509480		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG	19430480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG	19430480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	28253873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear disease	Pubtator	27148679	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	BEFREE	21139041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	27148679, 28253873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrolamellar Hepatocellular Carcinoma	Hepatocellular Carcinoma	BEFREE	31474360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	27899417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	GENOMICS_ENGLAND_DG	16715098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	20865670, 28648506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	27148679	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	28253873, 34093443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	30399154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36114444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	20838435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	26259131, 28253873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	26259131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	GENOMICS_ENGLAND_DG	16715098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31340201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28911974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	21747906	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	28253873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	29083325		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	26259131, 27148679	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	34093443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	28253873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	28253873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	26259131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	28846454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28523428		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27172792		★★★★★ ★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	22079202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	37816730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Monogenic diabetes	Monogenic Diabetes	BEFREE	27035557		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	16715098, 18263616, 19481545, 20865670, 21139041, 22391303, 27899417, 28253873, 28648506, 29146476, 29779043, 29992946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome	Diabetes-Congenital Hypothyroidism-Congenital Glaucoma-Hepatic Fibrosis-Polycystic Kidneys Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Nephronophthisis	BEFREE	22391303		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29779043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35246208	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	9718301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	29436472	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	29436472, 30664745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	GWASCAT_DG	29436472, 30664745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	BEFREE	28648506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30648929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	19273592, 20865670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	28253873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	28846454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	GWASCAT_DG	27064256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	30399154, 31377279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20002769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	GENOMICS_ENGLAND_DG	16715098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	26259131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	28648506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	BEFREE	31797737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31273314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	34282807	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36724950	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GLIS3 (GLIS family zinc finger 3)