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	7546
Gene name	Zic family zinc finger 2
Gene symbol	ZIC2
Synonyms (NCBI Gene)	HPE5
Chromosome	13
Chromosome location	13q32.3
Summary	This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of

Show/Hide all (24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs397515364	->C	Pathogenic	Coding sequence variant, frameshift variant
rs397515365	GAGAACC>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515499	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515500	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs753776168	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs756225250	AGCGGCGGCGGCGGCTGCGGCGGCGGCGGC>-,AGCGGCGGCGGCGGCTGCGGCGGCGGCGGCAGCGGCGGCGGCGGCTGCGGCGGCGGCGGC	Pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs760662121	T>A	Likely-pathogenic	3 prime UTR variant
rs794729641	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886041583	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1060499562	TG>-	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1060499563	C>T	Pathogenic	Coding sequence variant, stop gained
rs1060499564	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794138	CCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1456001894	GG>-,G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555332212	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555332225	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555332361	A>T	Pathogenic	Splice acceptor variant
rs1555332362	CGTTCCAGTGTGAGTTTGAGGGCTGCGACCGGCGCTTCGCCAACAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566405714	AGCACA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1594290376	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1594290658	GGCGGGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594291863	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1594291868	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1594292057	G>-	Pathogenic	Frameshift variant, coding sequence variant

153

Show/Hide all (153)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048739	hsa-miR-93-5p	CLASH	23622248
MIRT044573	hsa-miR-320a	CLASH	23622248
MIRT618798	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT618797	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT618796	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT618795	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT618794	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT618793	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT618792	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT618791	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	20371350
MIRT067728	hsa-miR-4311	PAR-CLIP	20371350
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT067728	hsa-miR-4311	PAR-CLIP	21572407
MIRT067729	hsa-miR-6884-3p	PAR-CLIP	21572407
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT067728	hsa-miR-4311	PAR-CLIP	21572407
MIRT737356	hsa-miR-873-3p	Luciferase reporter assayWestern blottingMicroarrayImmunohistochemistry (IHC)RNA-seq	32555352
MIRT618798	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT618797	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT618796	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT618795	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT618794	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT618793	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT618792	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT618791	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	20371350
MIRT067728	hsa-miR-4311	PAR-CLIP	20371350
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT067728	hsa-miR-4311	PAR-CLIP	21572407
MIRT067729	hsa-miR-6884-3p	PAR-CLIP	21572407
MIRT545898	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT067728	hsa-miR-4311	PAR-CLIP	21572407
MIRT756349	hsa-miR-129-5p	Western blottingqRT-PCR	37294527
MIRT1513337	hsa-miR-1203	CLIP-seq
MIRT1513338	hsa-miR-1271	CLIP-seq
MIRT1513339	hsa-miR-1284	CLIP-seq
MIRT1513340	hsa-miR-1289	CLIP-seq
MIRT1513341	hsa-miR-1292	CLIP-seq
MIRT1513342	hsa-miR-145	CLIP-seq
MIRT1513343	hsa-miR-181a	CLIP-seq
MIRT1513344	hsa-miR-181b	CLIP-seq
MIRT1513345	hsa-miR-181c	CLIP-seq
MIRT1513346	hsa-miR-181d	CLIP-seq
MIRT1513347	hsa-miR-182	CLIP-seq
MIRT1513348	hsa-miR-1908	CLIP-seq
MIRT1513349	hsa-miR-2909	CLIP-seq
MIRT1513350	hsa-miR-297	CLIP-seq
MIRT1513351	hsa-miR-30a	CLIP-seq
MIRT1513352	hsa-miR-30b	CLIP-seq
MIRT1513353	hsa-miR-30c	CLIP-seq
MIRT1513354	hsa-miR-30d	CLIP-seq
MIRT1513355	hsa-miR-30e	CLIP-seq
MIRT1513356	hsa-miR-3115	CLIP-seq
MIRT1513357	hsa-miR-3148	CLIP-seq
MIRT1513358	hsa-miR-3150b-3p	CLIP-seq
MIRT1513359	hsa-miR-3154	CLIP-seq
MIRT1513360	hsa-miR-3162-5p	CLIP-seq
MIRT1513361	hsa-miR-3173-3p	CLIP-seq
MIRT1513362	hsa-miR-3177-3p	CLIP-seq
MIRT1513363	hsa-miR-3179	CLIP-seq
MIRT1513364	hsa-miR-3180	CLIP-seq
MIRT1513365	hsa-miR-3180-3p	CLIP-seq
MIRT1513366	hsa-miR-3180-5p	CLIP-seq
MIRT1513367	hsa-miR-3185	CLIP-seq
MIRT1513368	hsa-miR-3196	CLIP-seq
MIRT1513369	hsa-miR-3202	CLIP-seq
MIRT1513370	hsa-miR-323-3p	CLIP-seq
MIRT1513371	hsa-miR-323-5p	CLIP-seq
MIRT1513372	hsa-miR-337-5p	CLIP-seq
MIRT1513373	hsa-miR-340	CLIP-seq
MIRT1513374	hsa-miR-361-3p	CLIP-seq
MIRT1513375	hsa-miR-3650	CLIP-seq
MIRT1513376	hsa-miR-3653	CLIP-seq
MIRT1513377	hsa-miR-3658	CLIP-seq
MIRT1513378	hsa-miR-3671	CLIP-seq
MIRT1513379	hsa-miR-3679-3p	CLIP-seq
MIRT1513380	hsa-miR-3692	CLIP-seq
MIRT1513381	hsa-miR-3928	CLIP-seq
MIRT1513382	hsa-miR-4262	CLIP-seq
MIRT1513383	hsa-miR-4446-5p	CLIP-seq
MIRT1513384	hsa-miR-4457	CLIP-seq
MIRT1513385	hsa-miR-4463	CLIP-seq
MIRT1513386	hsa-miR-4471	CLIP-seq
MIRT1513387	hsa-miR-4485	CLIP-seq
MIRT1513388	hsa-miR-4495	CLIP-seq
MIRT1513389	hsa-miR-4633-5p	CLIP-seq
MIRT1513390	hsa-miR-4646-5p	CLIP-seq
MIRT1513391	hsa-miR-4659a-3p	CLIP-seq
MIRT1513392	hsa-miR-4659b-3p	CLIP-seq
MIRT1513393	hsa-miR-4672	CLIP-seq
MIRT1513394	hsa-miR-4694-3p	CLIP-seq
MIRT1513395	hsa-miR-4700-3p	CLIP-seq
MIRT1513396	hsa-miR-4706	CLIP-seq
MIRT1513397	hsa-miR-4717-3p	CLIP-seq
MIRT1513398	hsa-miR-4747-5p	CLIP-seq
MIRT1513399	hsa-miR-4749-5p	CLIP-seq
MIRT1513400	hsa-miR-4766-5p	CLIP-seq
MIRT1513401	hsa-miR-4784	CLIP-seq
MIRT1513402	hsa-miR-4789-5p	CLIP-seq
MIRT1513403	hsa-miR-485-3p	CLIP-seq
MIRT1513404	hsa-miR-491-3p	CLIP-seq
MIRT1513405	hsa-miR-494	CLIP-seq
MIRT1513406	hsa-miR-499-3p	CLIP-seq
MIRT1513407	hsa-miR-499a-3p	CLIP-seq
MIRT1513408	hsa-miR-513b	CLIP-seq
MIRT1513409	hsa-miR-520d-5p	CLIP-seq
MIRT1513410	hsa-miR-524-5p	CLIP-seq
MIRT1513411	hsa-miR-543	CLIP-seq
MIRT1513412	hsa-miR-548aa	CLIP-seq
MIRT1513413	hsa-miR-548c-3p	CLIP-seq
MIRT1513414	hsa-miR-564	CLIP-seq
MIRT1513415	hsa-miR-567	CLIP-seq
MIRT1513416	hsa-miR-607	CLIP-seq
MIRT1513417	hsa-miR-663	CLIP-seq
MIRT1513418	hsa-miR-765	CLIP-seq
MIRT1513419	hsa-miR-873	CLIP-seq
MIRT1513420	hsa-miR-876-3p	CLIP-seq
MIRT1513421	hsa-miR-96	CLIP-seq
MIRT1513342	hsa-miR-145	CLIP-seq
MIRT1513350	hsa-miR-297	CLIP-seq
MIRT2154747	hsa-miR-3152-5p	CLIP-seq
MIRT1513366	hsa-miR-3180-5p	CLIP-seq
MIRT1513371	hsa-miR-323-5p	CLIP-seq
MIRT1513375	hsa-miR-3650	CLIP-seq
MIRT2154748	hsa-miR-4666-5p	CLIP-seq
MIRT1513394	hsa-miR-4694-3p	CLIP-seq
MIRT2154749	hsa-miR-4796-5p	CLIP-seq
MIRT1513408	hsa-miR-513b	CLIP-seq
MIRT1513409	hsa-miR-520d-5p	CLIP-seq
MIRT1513410	hsa-miR-524-5p	CLIP-seq
MIRT1513415	hsa-miR-567	CLIP-seq
MIRT1513420	hsa-miR-876-3p	CLIP-seq
MIRT1513343	hsa-miR-181a	CLIP-seq
MIRT1513344	hsa-miR-181b	CLIP-seq
MIRT1513345	hsa-miR-181c	CLIP-seq
MIRT1513346	hsa-miR-181d	CLIP-seq
MIRT1513350	hsa-miR-297	CLIP-seq
MIRT1513371	hsa-miR-323-5p	CLIP-seq
MIRT1513375	hsa-miR-3650	CLIP-seq
MIRT1513382	hsa-miR-4262	CLIP-seq
MIRT2374796	hsa-miR-4432	CLIP-seq
MIRT1513384	hsa-miR-4457	CLIP-seq
MIRT1513394	hsa-miR-4694-3p	CLIP-seq
MIRT1513408	hsa-miR-513b	CLIP-seq
MIRT1513409	hsa-miR-520d-5p	CLIP-seq
MIRT1513410	hsa-miR-524-5p	CLIP-seq
MIRT2374797	hsa-miR-548u	CLIP-seq
MIRT1513415	hsa-miR-567	CLIP-seq
MIRT1513420	hsa-miR-876-3p	CLIP-seq
MIRT2463992	hsa-miR-4282	CLIP-seq
MIRT2463993	hsa-miR-4490	CLIP-seq
MIRT1513413	hsa-miR-548c-3p	CLIP-seq

Show/Hide all (27)

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:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005515	Function	Protein binding	IPI	33961781, 34819669
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
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:0007420	Process	Brain development	TAS	9771712
GO:0007601	Process	Visual perception	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030154	Process	Cell differentiation	IEA
GO:0031490	Function	Chromatin DNA binding	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	ISS

MIM	HGNC	e!Ensembl
603073	12873	ENSG00000043355

O95409

Protein name

Zinc finger protein ZIC 2 (Zinc finger protein of the cerebellum 2)

Protein function

Acts as a transcriptional activator or repressor. Plays important roles in the early stage of organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral retinal ganglion cells (iRGCs) to refi

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18366	zf_ZIC	248 → 295	Zic proteins zinc finger domain	Domain
PF00096	zf-C2H2	333 → 357	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	363 → 387	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	393 → 415	Zinc finger, C2H2 type	Domain

Sequence

MLLDAGPQFPAIGVGSFARHHHHSAAAAAAAAAEMQDRELSLAAAQNGFVDSAAAHMGAF
KLNPGAHELSPGQSSAFTSQGPGAYPGSAAAAAAAAALGPHAAHVGSYSGPPFNSTRDFL
FRSRGFGDSAPGGGQHGLFGPGAGGLHHAHSDAQGHLLFPGLPEQHGPHGSQNVLNGQMR
LGLPGEVFGRSEQYRQVASPRTDPYSAAQLHNQYGPMNMNMGMNMAAAAAHHHHHHHHHP
GAFFRYMRQQCIKQELICKWIDPEQLSNPKKSCNKTFSTMHELVTHVSVEHVGGPEQSNH
VCFWEECPREGKPFKAKYKLVNHIRVHTGEKPFPCPFPGCGKVFARSENLKIHKRTHTGE
KPFQCEFEGCDRRFANSSDRKKHMHVHTSDKPYLCKMCDKSYTHPSSLRKHMKVHESSPQ
GSESSPAASSGYESSTPPGLVSPSAEPQSSSNLSPAAAAAAAAAAAAAAAVSAVHRGGGS
GSGGAGGGSGGGSGSGGGGGGAGGGGGGSSGGGSGTAGGHSGLSSNFNEWYV

Sequence length

532

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Pathogenic	rs2152163576	RCV001814401	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Holoprosencephaly 5	Pathogenic; Likely pathogenic	rs2152162756, rs2152163697, rs2152163567, rs2501549421, rs794729641, rs2501549380, rs2501551086, rs2501545060, rs2501544556, rs397515364, rs397515365, rs2152162709, rs2501545280, rs2501544720, rs1060499564 View all (15 more)	RCV001386365 RCV001995308 RCV002001968 RCV002291071 RCV000185543 View all (25 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holoprosencephaly sequence	Likely pathogenic	rs1594291868	RCV000787361	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic	rs1594291868	RCV000787361	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ZIC2-related disorder	Likely pathogenic	rs2501545204	RCV003402273	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (20)

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.
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYCLOCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOBAR HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROFORM HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ 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
NEURAL TUBE DEFECT, FOLATE-SENSITIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS X-LINKED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (120)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acrania	Acrania	CTD_human_DG	15136147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ 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
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26318045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	BEFREE	30855487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cysts	Pubtator	30855487	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asplenia Syndrome	Asplenia	BEFREE	29992973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	36226239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	28720872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28720872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30075825, 33492284, 37596527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26318045	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	39331921	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22733541		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30260270, 31612001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30260270, 31612001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	17344319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21352556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	38280885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	15136147, 15590697, 22105922, 24677696, 9771712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	11285244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	CTD_human_DG	15136147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dandy-Walker Syndrome	Dandy-Walker Syndrome	BEFREE	12376941, 12698964, 17209130, 25454392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastematomyelia	Diastematomyelia	CTD_human_DG	15136147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16397028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34278490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	22733541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	CTD_human_DG	15136147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	21661123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	10677508, 10710230, 11285244, 11479728, 11699604, 11857562, 11910512, 12376941, 12698964, 15136147, 15590697, 17274816, 18617531, 19022413, 19177455 View all (21 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	LHGDN	15221788		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	Pubtator	16199538, 17251188, 19177455, 19431187, 19955556, 20531442, 21638761, 21940735, 21976454, 21995818, 22310223, 22847929, 23276570, 27363716, 30855487	Associate	★★★★★ ★★☆☆☆ 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
Holoprosencephaly	Holoprosencephaly	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY 2 (disorder)	Holoprosencephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HOLOPROSENCEPHALY 4 (disorder)	Holoprosencephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HOLOPROSENCEPHALY 5	Holoprosencephaly	CLINVAR_DG	11285244, 15590697, 19177455, 19955556, 9771712		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HOLOPROSENCEPHALY 5	Holoprosencephaly	UNIPROT_DG	11285244, 15221788, 15590697, 19177455, 9771712		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HOLOPROSENCEPHALY 5	Holoprosencephaly	GENOMICS_ENGLAND_DG	19955556, 21976454, 24706429, 9771712		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holoprosencephaly 5	Holoprosencephaly	Pubtator	33557041	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HOLOPROSENCEPHALY 5	Holoprosencephaly	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29442325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iniencephaly	Anencephaly	CTD_human_DG	15136147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	28835494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30483794	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30483794		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28577975		★★★★★ ★☆☆☆☆ Found in Text Mining only
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
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	21940735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29588366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17173048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30197753, 31649488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27177248, 28577975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30260270, 31612001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	17344319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	17344319	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30855487		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	Pubtator	30855487	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microform holoprosencephaly	Microform Holoprosencephaly	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Midline interhemispheric variant of holoprosencephaly	Midline Interhemispheric Variant Of Holoprosencephaly	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	27765529, 28338202, 37479694	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28338202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17344319, 22733541, 28577975, 31640781		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11699604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	11857562, 14679585, 21496007, 21940735		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	CTD_human_DG	15136147		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural tube defect	Pubtator	21940735	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurenteric Cyst	Neurenteric Cyst	CTD_human_DG	15136147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28857346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26318045	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	24706429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic syndrome	Pubtator	15880380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	28720872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	18178536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	18639938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30197753, 31649488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17173048		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27191985	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31640781	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rachischisis	Rachischisis	BEFREE	21940735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22355535, 29442325		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	22355535		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septopreoptic holoprosencephaly	Septopreoptic Holoprosencephaly	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10760287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	10760287, 15880380, 37399175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	10677508, 11699604, 21940735, 29463853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Cystica	Spina Bifida Cystica	BEFREE	14679585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Cord Myelodysplasia	Spinal Cord Myelodysplasia	CTD_human_DG	15136147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19784848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	CTD_human_DG	15136147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	30671724	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ZIC2 (Zic family zinc finger 2)