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	58499
Gene name	Zinc finger protein 462
Gene symbol	ZNF462
Synonyms (NCBI Gene)	WSKAZFPIPZfp462
Chromosome	9
Chromosome location	9q31.2
Summary	The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding diff

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs562767308	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1060499549	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1060499550	TG>A	Pathogenic	Coding sequence variant, frameshift variant
rs1060499551	A>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1176008720	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained, intron variant
rs1554703226	ACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554703536	->AA	Pathogenic	Coding sequence variant, stop gained
rs1564106503	CCT>TGGTG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1588062809	C>T	Pathogenic	Stop gained, coding sequence variant
rs1588063241	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1588064794	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588065447	CCAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588067098	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588070867	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1588073071	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1588136019	->G	Likely-pathogenic	Frameshift variant, coding sequence variant

103

Show/Hide all (103)

miRTarBase ID	miRNA	Experiments	Reference
MIRT044512	hsa-miR-320a	CLASH	23622248
MIRT038241	hsa-miR-330-5p	CLASH	23622248
MIRT714762	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT714761	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT714760	hsa-miR-129-5p	HITS-CLIP	19536157
MIRT714762	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT714761	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT714760	hsa-miR-129-5p	HITS-CLIP	19536157
MIRT1525649	hsa-miR-1208	CLIP-seq
MIRT1525650	hsa-miR-1272	CLIP-seq
MIRT1525651	hsa-miR-1297	CLIP-seq
MIRT1525652	hsa-miR-1470	CLIP-seq
MIRT1525653	hsa-miR-26a	CLIP-seq
MIRT1525654	hsa-miR-26b	CLIP-seq
MIRT1525655	hsa-miR-3156-3p	CLIP-seq
MIRT1525656	hsa-miR-3194-5p	CLIP-seq
MIRT1525657	hsa-miR-4287	CLIP-seq
MIRT1525658	hsa-miR-4290	CLIP-seq
MIRT1525659	hsa-miR-4301	CLIP-seq
MIRT1525660	hsa-miR-4464	CLIP-seq
MIRT1525661	hsa-miR-4465	CLIP-seq
MIRT1525662	hsa-miR-4667-3p	CLIP-seq
MIRT1525663	hsa-miR-4685-3p	CLIP-seq
MIRT1525664	hsa-miR-4687-5p	CLIP-seq
MIRT1525665	hsa-miR-4690-3p	CLIP-seq
MIRT1525666	hsa-miR-4699-5p	CLIP-seq
MIRT1525667	hsa-miR-4748	CLIP-seq
MIRT1525668	hsa-miR-532-3p	CLIP-seq
MIRT2158879	hsa-miR-1825	CLIP-seq
MIRT2158880	hsa-miR-342-3p	CLIP-seq
MIRT2158881	hsa-miR-3680	CLIP-seq
MIRT2158882	hsa-miR-377	CLIP-seq
MIRT2158883	hsa-miR-4775	CLIP-seq
MIRT2158884	hsa-miR-4798-3p	CLIP-seq
MIRT1525650	hsa-miR-1272	CLIP-seq
MIRT2378254	hsa-miR-140-3p	CLIP-seq
MIRT2378255	hsa-miR-2115	CLIP-seq
MIRT2378256	hsa-miR-3065-5p	CLIP-seq
MIRT2158880	hsa-miR-342-3p	CLIP-seq
MIRT2158881	hsa-miR-3680	CLIP-seq
MIRT2158882	hsa-miR-377	CLIP-seq
MIRT1525666	hsa-miR-4699-5p	CLIP-seq
MIRT2378257	hsa-miR-4738-3p	CLIP-seq
MIRT2158884	hsa-miR-4798-3p	CLIP-seq
MIRT2378258	hsa-miR-516a-3p	CLIP-seq
MIRT2378259	hsa-miR-587	CLIP-seq
MIRT1525652	hsa-miR-1470	CLIP-seq
MIRT2158879	hsa-miR-1825	CLIP-seq
MIRT2670578	hsa-miR-1910	CLIP-seq
MIRT2670579	hsa-miR-3120-5p	CLIP-seq
MIRT2670580	hsa-miR-3121-3p	CLIP-seq
MIRT1525655	hsa-miR-3156-3p	CLIP-seq
MIRT1525656	hsa-miR-3194-5p	CLIP-seq
MIRT2670581	hsa-miR-3647-3p	CLIP-seq
MIRT2670582	hsa-miR-375	CLIP-seq
MIRT2158882	hsa-miR-377	CLIP-seq
MIRT2670583	hsa-miR-4273	CLIP-seq
MIRT1525657	hsa-miR-4287	CLIP-seq
MIRT1525658	hsa-miR-4290	CLIP-seq
MIRT1525659	hsa-miR-4301	CLIP-seq
MIRT2670584	hsa-miR-4445	CLIP-seq
MIRT2670585	hsa-miR-455-3p	CLIP-seq
MIRT2670586	hsa-miR-4652-3p	CLIP-seq
MIRT1525662	hsa-miR-4667-3p	CLIP-seq
MIRT2670587	hsa-miR-4677-5p	CLIP-seq
MIRT1525663	hsa-miR-4685-3p	CLIP-seq
MIRT1525664	hsa-miR-4687-5p	CLIP-seq
MIRT1525665	hsa-miR-4690-3p	CLIP-seq
MIRT2670588	hsa-miR-4753-3p	CLIP-seq
MIRT2670589	hsa-miR-520f	CLIP-seq
MIRT1525668	hsa-miR-532-3p	CLIP-seq
MIRT2670590	hsa-miR-646	CLIP-seq
MIRT2670591	hsa-miR-942	CLIP-seq
MIRT1525650	hsa-miR-1272	CLIP-seq
MIRT1525652	hsa-miR-1470	CLIP-seq
MIRT2158879	hsa-miR-1825	CLIP-seq
MIRT2670578	hsa-miR-1910	CLIP-seq
MIRT2670579	hsa-miR-3120-5p	CLIP-seq
MIRT2670580	hsa-miR-3121-3p	CLIP-seq
MIRT1525655	hsa-miR-3156-3p	CLIP-seq
MIRT1525656	hsa-miR-3194-5p	CLIP-seq
MIRT2670581	hsa-miR-3647-3p	CLIP-seq
MIRT2670582	hsa-miR-375	CLIP-seq
MIRT2158882	hsa-miR-377	CLIP-seq
MIRT2670583	hsa-miR-4273	CLIP-seq
MIRT1525657	hsa-miR-4287	CLIP-seq
MIRT1525658	hsa-miR-4290	CLIP-seq
MIRT1525659	hsa-miR-4301	CLIP-seq
MIRT2670584	hsa-miR-4445	CLIP-seq
MIRT2670585	hsa-miR-455-3p	CLIP-seq
MIRT2670586	hsa-miR-4652-3p	CLIP-seq
MIRT1525662	hsa-miR-4667-3p	CLIP-seq
MIRT2670587	hsa-miR-4677-5p	CLIP-seq
MIRT1525663	hsa-miR-4685-3p	CLIP-seq
MIRT1525664	hsa-miR-4687-5p	CLIP-seq
MIRT1525665	hsa-miR-4690-3p	CLIP-seq
MIRT1525666	hsa-miR-4699-5p	CLIP-seq
MIRT2378257	hsa-miR-4738-3p	CLIP-seq
MIRT2670588	hsa-miR-4753-3p	CLIP-seq
MIRT2670589	hsa-miR-520f	CLIP-seq
MIRT1525668	hsa-miR-532-3p	CLIP-seq
MIRT2670590	hsa-miR-646	CLIP-seq
MIRT2670591	hsa-miR-942	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	27705803, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0008270	Function	Zinc ion binding	IEA
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:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
617371	21684	ENSG00000148143

Q96JM2

Protein name

Zinc finger protein 462 (Zinc finger PBX1-interacting protein) (ZFPIP)

Protein function

Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization (PubMed:20219459, PubMed:21570965). Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4,

PDB

1X6F

Family and domains

Sequence

MEVLQCDGCDFRAPSYEDLKAHIQDVHTAFLQPTDVAEDNVNELRCGSVNASNQTEVEFS
SIKDEFAIAEDLSGQNATSLGTGGYYGHSPGYYGQHIAANPKPTNKFFQCKFCVRYFRSK
NLLIEHTRKVHGAQAEGSSSGPPVPGSLNYNIMMHEGFGKVFSCQFCTYKSPRRARIIKH
QKMYHKNNLKETTAPPPAPAPMPDPVVPPVSLQDPCKELPAEVVERSILESMVKPLTKSR
GNFCCEWCSYQTPRRERWCDHMMKKHRSMVKILSSLRQQQEGTNLPDVPNKSAPSPTSNS
TYLTMNAASREIPNTTVSNFRGSMGNSIMRPNSSASKFSPMSYPQMKPKSPHNSGLVNLT
ERSRYGMTDMTNSSADLETNSMLNDSSSDEELNEIDSENGLSAMDHQTSGLSAEQLMGSD
GNKLLETKGIPFRRFMNRFQCPFCPFLTMHRRSISRHIENIHLSGKTAVYKCDECPFTCK
SSLKLGAHKQCHTGTTSDWDAVNSQSESISSSLNEGVVSYESSSINGRKSGVMLDPLQQQ
QPPQPPPPPPPPPPSQPQPLQQPQPPQLQPPHQVPPQPQTQPPPTQQPQPPTQAAPLHPY
KCTMCNYSTTTLKGLRVHQQHKHSFCDNLPKFEGQPSSLPLENETDSHPSSSNTVKKSQT
SILGLSSKNNFVAKASRKLANDFPLDLSPVKKRTRIDEIASNLQSKINQTKQQEDAVINV
EDDEEEEEDNEVEIEVELDREEEPTEPIIEVPTSFSAQQIWVRDTSEPQKEPNFRNITHD
YNATNGAEIELTLSEDEEDYYGSSTNLKDHQVSNTALLNTQTPIYGTEHNSENTDFGDSG
RLYYCKHCDFNNKSARSVSTHYQRMHPYIKFSFRYILDPNDHSAVYRCLECYIDYTNFED
LQQHYGEHHPEAMNVLNFDHSDLIYRCRFCSYTSPNVRSLMPHYQRMHPTVKINNAMIFS
SYVVEQQEGLNTESQTLREILNSAPKNMATSTPVARGGGLPATFNKNTPKTFTPECENQK
DPLVNTVVVYDCDVCSFASPNMHSVLVHYQKKHPEEKASYFRIQKTMRMVSVDRGSALSQ
LSFEVGAPMSPKMSNMGSPPPPQPPPPDLSTELYYCKHCSYSNRSVVGVLVHYQKRHPEI
KVTAKYIRQAPPTAAMMRGVEGPQGSPRPPAPIQQLNRSSSERDGPPVENEMFFCQHCDY
GNRTVKGVLIHYQKKHRDFKANADVIRQHTATIRSLCDRNQKKPASCVLVSPSNLERDKT
KLRALKCRQCSYTSPYFYALRKHIKKDHPALKATVTSIMRWAFLDGLIEAGYHCEWCIYS
HTEPNGLLLHYQRRHPEHYVDYTYMATKLWAGPDPSPPSLTMPAEAKTYRCRDCVFEAVS
IWDITNHYQAFHPWAMNGDESVLLDIIKEKDAVEKPILSSEELAGPVNCENSIPTPFPEQ
EAECPEDARLSPEKSLQLASANPAISSTPYQCTVCQSEYNNLHGLLTHYGKKHPGMKVKA
ADFAQDIDINPGAVYKCRHCPYINTRIHGVLTHYQKRHPSIKVTAEDFVHDVEQSADISQ
NDVEETSRIFKQGYGAYRCKLCPYTHGTLEKLKIHYEKYHNQPEFDVFSQSPPKLPVPLE
PEMTTEVSPSQVSITEEEVGEEPVSTSHFSTSHLVSHTVFRCQLCKYFCSTRKGIARHYR
IKHNNVRAQPEGKNNLFKCALCAYTNPIRKGLAAHYQKRHDIDAYYTHCLAASRTISDKP
NKVIIPSPPKDDSPQLSEELRRAVEKKKCSLCSFQSFSKKGIVSHYMKRHPGVFPKKQHA
SKLGGYFTAVYADEHEKPTLMEEEERGNFEKAEVEGEAQEIEWLPFRCIKCFKLSFSTAE
LLCMHYTDHHSRDLKRDFIILGNGPRLQNSTYQCKHCDSKLQSTAELTSHLNIHNEEFQK
RAKRQERRKQLLSKQKYADGAFADFKQERPFGHLEEVPKIKERKVVGYKCKFCVEVHPTL
RAICNHLRKHVQYGNVPAVSAAVKGLRSHERSHLALAMFTREDKYSCQYCSFVSAFRHNL
DRHMQTHHGHHKPFRCKLCSFKSSYNSRLKTHILKAHAGEHAYKCSWCSFSTMTISQLKE
HSLKVHGKALTLPRPRIVSLLSSHSHHSSQKATPAEEVEDSNDSSYSEPPDVQQQLNHYQ
SAALARNNSRVSPVPLSGAAAGTEQKTEAVLHCEFCEFSSGYIQSIRRHYRDKHGGKKLF
KCKDCSFYTGFKSAFTMHVEAGHSAVPEEGPKDLRCPLCLYHTKYKRNMIDHIVLHREER
VVPIEVCRSKLSKYLQGVVFRCDKCTFTCSSDESLQQHIEKHNELKPYKCQLCYYETKHT
EELDSHLRDEHKVSRNFELVGRVNLDQLEQMKEKMESSSSDDEDKEEEMNSKAEDRELMR
FSDHGAALNTEKRFPCEFCGRAFSQGSEWERHVLRHGMALNDTKQVSREEIHPKEIMENS
VKMPSIEEKEDDEAIGIDFSLKNETVAICVVTADKSLLENAEAKKE

Sequence length

2506

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
Craniosynostosis syndrome	Pathogenic	rs1060499549, rs1060499551, rs1060499550	RCV000449793 RCV000450382 RCV000451535	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal dominant	Pathogenic	rs1060499549, rs1060499551, rs1060499550	RCV000449793 RCV000450382 RCV000451535	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure	Likely pathogenic	rs1469441260	RCV001270215	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Weiss-Kruszka syndrome	Likely pathogenic; Pathogenic	rs2132039347, rs2131488835, rs2131431481, rs2131465180, rs2131454461, rs2538803152, rs2538809532, rs866842287, rs2538787233, rs2538759626, rs2538791396, rs2538720827, rs2538778615, rs996375589, rs1830597071 View all (20 more)	RCV001528175 RCV001706868 RCV001728020 RCV001843844 RCV002052106 View all (30 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ZNF462-related disorder	Pathogenic; Likely pathogenic	rs866842287, rs1830597071, rs2538729329	RCV004750747 RCV003404672 RCV003899871	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

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
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft lip	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ 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 (39)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	17632789, 28513610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	28513610, 31361404, 39501256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GWASCAT_DG	28196072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	27621227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	27621227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	31361404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29427787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	GENOMICS_ENGLAND_DG	14564155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	GENOMICS_ENGLAND_DG	14564155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	31361404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	17632789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	28513610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	28513610, 31361404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	GENOMICS_ENGLAND_DG	14564155		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	28513610, 31361404, 33909591, 36461789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	33975400	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	BEFREE	28513610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	14564155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27621227, 28513610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	33909591	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	31361404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	14564155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29427787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36461789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29059373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metopic ridging-ptosis-facial dysmorphism syndrome	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	29059373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	31361404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	31361404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35735060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29427787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	GENOMICS_ENGLAND_DG	14564155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	31361404		★★★★★ ★☆☆☆☆ Found in Text Mining only

ZNF462 (zinc finger protein 462)