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	7545
Gene name	Zic family zinc finger 1
Gene symbol	ZIC1
Synonyms (NCBI Gene)	BAIDCSCRS6ZICZNF201
Chromosome	3
Chromosome location	3q24
Summary	This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to t

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057517667	C>A	Pathogenic	Stop gained, coding sequence variant
rs1057517668	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057517669	G>T	Pathogenic	Stop gained, coding sequence variant
rs1057517670	G>C	Pathogenic	Missense variant, coding sequence variant
rs1064794698	C>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1576469513	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1576470734	CGGCCGCCAGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576470749	->CACCATCGT	Pathogenic	Inframe insertion, coding sequence variant

175

Show/Hide all (175)

miRTarBase ID	miRNA	Experiments
MIRT1513264	hsa-miR-105	CLIP-seq
MIRT1513265	hsa-miR-1179	CLIP-seq
MIRT1513266	hsa-miR-1224-3p	CLIP-seq
MIRT1513267	hsa-miR-1231	CLIP-seq
MIRT1513268	hsa-miR-1260	CLIP-seq
MIRT1513269	hsa-miR-1260b	CLIP-seq
MIRT1513270	hsa-miR-1261	CLIP-seq
MIRT1513271	hsa-miR-1273g	CLIP-seq
MIRT1513272	hsa-miR-1280	CLIP-seq
MIRT1513273	hsa-miR-1289	CLIP-seq
MIRT1513274	hsa-miR-1470	CLIP-seq
MIRT1513275	hsa-miR-1537	CLIP-seq
MIRT1513276	hsa-miR-191	CLIP-seq
MIRT1513277	hsa-miR-194	CLIP-seq
MIRT1513278	hsa-miR-214	CLIP-seq
MIRT1513279	hsa-miR-299-3p	CLIP-seq
MIRT1513280	hsa-miR-3198	CLIP-seq
MIRT1513281	hsa-miR-323b-5p	CLIP-seq
MIRT1513282	hsa-miR-34c-3p	CLIP-seq
MIRT1513283	hsa-miR-3591-3p	CLIP-seq
MIRT1513284	hsa-miR-361-3p	CLIP-seq
MIRT1513285	hsa-miR-3619-5p	CLIP-seq
MIRT1513286	hsa-miR-3671	CLIP-seq
MIRT1513287	hsa-miR-3917	CLIP-seq
MIRT1513288	hsa-miR-3973	CLIP-seq
MIRT1513289	hsa-miR-4294	CLIP-seq
MIRT1513290	hsa-miR-4309	CLIP-seq
MIRT1513291	hsa-miR-4432	CLIP-seq
MIRT1513292	hsa-miR-4491	CLIP-seq
MIRT1513293	hsa-miR-4530	CLIP-seq
MIRT1513294	hsa-miR-4657	CLIP-seq
MIRT1513295	hsa-miR-4666-5p	CLIP-seq
MIRT1513296	hsa-miR-4667-3p	CLIP-seq
MIRT1513297	hsa-miR-4680-5p	CLIP-seq
MIRT1513298	hsa-miR-4694-3p	CLIP-seq
MIRT1513299	hsa-miR-4699-3p	CLIP-seq
MIRT1513300	hsa-miR-4709-3p	CLIP-seq
MIRT1513301	hsa-miR-4729	CLIP-seq
MIRT1513302	hsa-miR-4746-5p	CLIP-seq
MIRT1513303	hsa-miR-4747-5p	CLIP-seq
MIRT1513304	hsa-miR-4760-3p	CLIP-seq
MIRT1513305	hsa-miR-4776-3p	CLIP-seq
MIRT1513306	hsa-miR-4802-3p	CLIP-seq
MIRT1513307	hsa-miR-4803	CLIP-seq
MIRT1513308	hsa-miR-487a	CLIP-seq
MIRT1513309	hsa-miR-487b	CLIP-seq
MIRT1513310	hsa-miR-490-5p	CLIP-seq
MIRT1513311	hsa-miR-494	CLIP-seq
MIRT1513312	hsa-miR-499-5p	CLIP-seq
MIRT1513313	hsa-miR-516b	CLIP-seq
MIRT1513314	hsa-miR-518a-5p	CLIP-seq
MIRT1513315	hsa-miR-520d-5p	CLIP-seq
MIRT1513316	hsa-miR-524-5p	CLIP-seq
MIRT1513317	hsa-miR-527	CLIP-seq
MIRT1513318	hsa-miR-542-3p	CLIP-seq
MIRT1513319	hsa-miR-548a-5p	CLIP-seq
MIRT1513320	hsa-miR-548ab	CLIP-seq
MIRT1513321	hsa-miR-548ak	CLIP-seq
MIRT1513322	hsa-miR-548b-5p	CLIP-seq
MIRT1513323	hsa-miR-548c-5p	CLIP-seq
MIRT1513324	hsa-miR-548d-5p	CLIP-seq
MIRT1513325	hsa-miR-548h	CLIP-seq
MIRT1513326	hsa-miR-548i	CLIP-seq
MIRT1513327	hsa-miR-548j	CLIP-seq
MIRT1513328	hsa-miR-548n	CLIP-seq
MIRT1513329	hsa-miR-548w	CLIP-seq
MIRT1513330	hsa-miR-548y	CLIP-seq
MIRT1513331	hsa-miR-559	CLIP-seq
MIRT1513332	hsa-miR-607	CLIP-seq
MIRT1513333	hsa-miR-653	CLIP-seq
MIRT1513334	hsa-miR-654-3p	CLIP-seq
MIRT1513335	hsa-miR-761	CLIP-seq
MIRT1513336	hsa-miR-889	CLIP-seq
MIRT2154701	hsa-miR-106a	CLIP-seq
MIRT2154702	hsa-miR-106b	CLIP-seq
MIRT2154703	hsa-miR-1263	CLIP-seq
MIRT2154704	hsa-miR-17	CLIP-seq
MIRT2154705	hsa-miR-208a	CLIP-seq
MIRT2154706	hsa-miR-208b	CLIP-seq
MIRT2154707	hsa-miR-20a	CLIP-seq
MIRT2154708	hsa-miR-20b	CLIP-seq
MIRT2154709	hsa-miR-23a	CLIP-seq
MIRT2154710	hsa-miR-23b	CLIP-seq
MIRT2154711	hsa-miR-23c	CLIP-seq
MIRT2154712	hsa-miR-298	CLIP-seq
MIRT2154713	hsa-miR-300	CLIP-seq
MIRT2154714	hsa-miR-30a	CLIP-seq
MIRT2154715	hsa-miR-30b	CLIP-seq
MIRT2154716	hsa-miR-30c	CLIP-seq
MIRT2154717	hsa-miR-30d	CLIP-seq
MIRT2154718	hsa-miR-30e	CLIP-seq
MIRT2154719	hsa-miR-3119	CLIP-seq
MIRT2154720	hsa-miR-3177-5p	CLIP-seq
MIRT2154721	hsa-miR-3609	CLIP-seq
MIRT2154722	hsa-miR-3613-3p	CLIP-seq
MIRT2154723	hsa-miR-3616-5p	CLIP-seq
MIRT2154724	hsa-miR-3647-5p	CLIP-seq
MIRT2154725	hsa-miR-3658	CLIP-seq
MIRT2154726	hsa-miR-381	CLIP-seq
MIRT2154727	hsa-miR-409-3p	CLIP-seq
MIRT2154728	hsa-miR-4325	CLIP-seq
MIRT2154729	hsa-miR-4328	CLIP-seq
MIRT1513291	hsa-miR-4432	CLIP-seq
MIRT2154730	hsa-miR-4463	CLIP-seq
MIRT2154731	hsa-miR-4643	CLIP-seq
MIRT2154732	hsa-miR-4659a-3p	CLIP-seq
MIRT2154733	hsa-miR-4659b-3p	CLIP-seq
MIRT2154734	hsa-miR-466	CLIP-seq
MIRT2154735	hsa-miR-4666-3p	CLIP-seq
MIRT1513298	hsa-miR-4694-3p	CLIP-seq
MIRT1513299	hsa-miR-4699-3p	CLIP-seq
MIRT2154736	hsa-miR-4715-5p	CLIP-seq
MIRT2154737	hsa-miR-4789-3p	CLIP-seq
MIRT2154738	hsa-miR-4789-5p	CLIP-seq
MIRT2154739	hsa-miR-4796-3p	CLIP-seq
MIRT1513312	hsa-miR-499-5p	CLIP-seq
MIRT2154740	hsa-miR-507	CLIP-seq
MIRT2154741	hsa-miR-519d	CLIP-seq
MIRT2154742	hsa-miR-543	CLIP-seq
MIRT1513319	hsa-miR-548a-5p	CLIP-seq
MIRT1513320	hsa-miR-548ab	CLIP-seq
MIRT2154743	hsa-miR-548ah	CLIP-seq
MIRT1513321	hsa-miR-548ak	CLIP-seq
MIRT1513322	hsa-miR-548b-5p	CLIP-seq
MIRT1513323	hsa-miR-548c-5p	CLIP-seq
MIRT1513324	hsa-miR-548d-5p	CLIP-seq
MIRT1513325	hsa-miR-548h	CLIP-seq
MIRT1513326	hsa-miR-548i	CLIP-seq
MIRT1513327	hsa-miR-548j	CLIP-seq
MIRT1513329	hsa-miR-548w	CLIP-seq
MIRT1513330	hsa-miR-548y	CLIP-seq
MIRT2154744	hsa-miR-557	CLIP-seq
MIRT1513331	hsa-miR-559	CLIP-seq
MIRT2154745	hsa-miR-573	CLIP-seq
MIRT2154746	hsa-miR-93	CLIP-seq
MIRT2374786	hsa-miR-15a	CLIP-seq
MIRT2374787	hsa-miR-15b	CLIP-seq
MIRT2374788	hsa-miR-16	CLIP-seq
MIRT2374789	hsa-miR-195	CLIP-seq
MIRT2154714	hsa-miR-30a	CLIP-seq
MIRT2154715	hsa-miR-30b	CLIP-seq
MIRT2154716	hsa-miR-30c	CLIP-seq
MIRT2154717	hsa-miR-30d	CLIP-seq
MIRT2154718	hsa-miR-30e	CLIP-seq
MIRT2374790	hsa-miR-3130-3p	CLIP-seq
MIRT2374791	hsa-miR-3194-3p	CLIP-seq
MIRT2154723	hsa-miR-3616-5p	CLIP-seq
MIRT2154724	hsa-miR-3647-5p	CLIP-seq
MIRT1513286	hsa-miR-3671	CLIP-seq
MIRT2374792	hsa-miR-424	CLIP-seq
MIRT1513298	hsa-miR-4694-3p	CLIP-seq
MIRT1513300	hsa-miR-4709-3p	CLIP-seq
MIRT2374793	hsa-miR-4793-3p	CLIP-seq
MIRT2374794	hsa-miR-497	CLIP-seq
MIRT2154745	hsa-miR-573	CLIP-seq
MIRT2374795	hsa-miR-603	CLIP-seq
MIRT2154705	hsa-miR-208a	CLIP-seq
MIRT2154706	hsa-miR-208b	CLIP-seq
MIRT2154712	hsa-miR-298	CLIP-seq
MIRT2154725	hsa-miR-3658	CLIP-seq
MIRT1513291	hsa-miR-4432	CLIP-seq
MIRT2154730	hsa-miR-4463	CLIP-seq
MIRT1513312	hsa-miR-499-5p	CLIP-seq
MIRT2463989	hsa-miR-199a-5p	CLIP-seq
MIRT2463990	hsa-miR-199b-5p	CLIP-seq
MIRT2463991	hsa-miR-2355-5p	CLIP-seq
MIRT1513283	hsa-miR-3591-3p	CLIP-seq
MIRT2667356	hsa-miR-3155	CLIP-seq
MIRT2667357	hsa-miR-3155b	CLIP-seq
MIRT2667358	hsa-miR-4462	CLIP-seq
MIRT2667359	hsa-miR-4645-5p	CLIP-seq
MIRT2667360	hsa-miR-4673	CLIP-seq
MIRT2667361	hsa-miR-4700-3p	CLIP-seq
MIRT2667362	hsa-miR-484	CLIP-seq
MIRT2667363	hsa-miR-526b	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
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	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8542595
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	8542595
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007389	Process	Pattern specification process	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0007417	Process	Central nervous system development	IBA
GO:0007417	Process	Central nervous system development	IEA
GO:0007420	Process	Brain development	IDA	8542595
GO:0007420	Process	Brain development	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	ISS
GO:0010467	Process	Gene expression	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021772	Process	Olfactory bulb development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	ISS
GO:0042472	Process	Inner ear morphogenesis	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	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0098727	Process	Maintenance of cell number	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
600470	12872	ENSG00000152977

Q15915

Protein name

Zinc finger protein ZIC 1 (Zinc finger protein 201) (Zinc finger protein of the cerebellum 1)

Protein function

Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distr

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18366	zf_ZIC	218 → 264	Zic proteins zinc finger domain	Domain
PF00096	zf-C2H2	302 → 326	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	332 → 356	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	362 → 384	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: CNS. A high level expression is seen in the cerebellum. Detected in the nuclei of the cerebellar granule cell lineage from the progenitor cells of the external germinal layer to the postmigrated cells of the internal granular layer. De

Sequence

MLLDAGPQYPAIGVTTFGASRHHSAGDVAERDVGLGINPFADGMGAFKLNPSSHELASAG
QTAFTSQAPGYAAAAALGHHHHPGHVGSYSSAAFNSTRDFLFRNRGFGDAAAAASAQHSL
FAASAGGFGGPHGHTDAAGHLLFPGLHEQAAGHASPNVVNGQMRLGFSGDMYPRPEQYGQ
VTSPRSEHYAAPQLHGYGPMNVNMAAHHGAGAFFRYMRQPIKQELICKWIEPEQLANPKK
SCNKTFSTMHELVTHVTVEHVGGPEQSNHICFWEECPREGKPFKAKYKLVNHIRVHTGEK
PFPCPFPGCGKVFARSENLKIHKRTHTGEKPFKCEFEGCDRRFANSSDRKKHMHVHTSDK
PYLCKMCDKSYTHPSSLRKHMKVHESSSQGSQPSPAASSGYESSTPPTIVSPSTDNPTTS
SLSPSSSAVHHTAGHSALSSNFNEWYV

Sequence length

447

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
Craniosynostosis 6	Pathogenic; Likely pathogenic	rs1057517670, rs2087399510	RCV000412522 RCV001263209	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Structural brain anomalies with impaired intellectual development and craniosynostosis	Likely pathogenic; Pathogenic	rs2107994263, rs1057517667, rs1057517668, rs1057517669, rs1576470749	RCV001839308 RCV000412516 RCV000412596 RCV000412649 RCV000991343	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

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.
BRACHYCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DANDY-WALKER SYNDROME	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC MACULOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TURRICEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZIC1-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (119)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acrocephaly	Acrocephaly	ORPHANET_DG	26340333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	11015565, 23852775, 8542595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29378629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus Neoplasms	Anus neoplasm	Pubtator	30060049	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29378629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	ORPHANET_DG	26340333		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	24684457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29956756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26207911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24782033, 33772101	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	31788119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20713527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	12499499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	35997131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	26340333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	31788119		★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	29168327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	11015565, 23852775, 8542595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21347233, 31392276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21347233, 24684457, 31392276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21347233, 31392276	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	30391508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	BEFREE	26340333, 29442326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	27884935	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	26340333, 29392564, 30391508		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS 6	Craniosynostosis	GENOMICS_ENGLAND_DG	26340333		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CRANIOSYNOSTOSIS 6	Craniosynostosis	UNIPROT_DG	26340333		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniosynostosis, Type 1	Craniosynostosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	BEFREE	15338008, 15733262, 21204220, 21307096, 23679990, 29442326, 30391508		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dandy-Walker Syndrome	Dandy-Walker Syndrome	LHGDN	15338008		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	31264924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	20676061	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	21307096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21347233	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	14981711, 15940696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	17936758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	22799764	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34475426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30264483, 34475426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30391508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	11699604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	Pubtator	17251188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	26207911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated Dandy-Walker malformation with hydrocephalus	Isolated Dandy-Walker Malformation With Hydrocephalus	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated Dandy-Walker malformation without hydrocephalus	Isolated Dandy-Walker Malformation Without Hydrocephalus	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	35628134	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	27553089	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	26340333		★★★★★ ★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	20713527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	20713527	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24782033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20713527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Maculopathy with diabetes mellitus	Diabetic maculopathy	GWASCAT_DG	31264924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29956756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	22799764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20713527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19135984, 22799764, 26207911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	24684457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19135984, 27177248, 27572108, 28119363, 29442329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21347233, 31392276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29628984, 29956756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	11015565, 12499499, 21347233, 23852775, 8542595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	21347233, 23852775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	24457242	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30391508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20944657, 22411505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	35997131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19135984, 21347233, 22799764, 23774800, 24457242, 24684457, 24782033, 26207911, 29628984, 29956756, 30264483, 31392276		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11699604, 12499499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	14679585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	12499499, 8542595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	24684457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33319795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	ORPHANET_DG	26340333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	18639938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	34285060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	30391508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	15733262, 23471918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	18639938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	15007130	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	11699604		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 29	Spinocerebellar Ataxia	BEFREE	15940696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27553089	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19135984, 22799764, 26207911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	19135984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22799764	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24128875, 26207911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostotic Anterior Plagiocephaly	Synostotic Anterior Plagiocephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	24684457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	24684457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35123558	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	26207911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ZIC1 (Zic family zinc finger 1)