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	284403
Gene name	WD repeat domain 62
Gene symbol	WDR62
Synonyms (NCBI Gene)	C19orf14MCPH2
Chromosome	19
Chromosome location	19q13.12
Summary	This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provid

Show/Hide all (68)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2301734	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs35811023	C>G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs117887683	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs137919897	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant, upstream transcript variant
rs139371621	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant
rs139460397	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant, intron variant
rs139749569	T>C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, genic downstream transcript variant, coding sequence variant
rs139946168	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs141344823	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, intron variant, coding sequence variant
rs146180208	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs146485488	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs147652186	C>A,G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs147875659	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs148415080	C>T	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs148667984	C>T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, synonymous variant, upstream transcript variant, coding sequence variant
rs199736219	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs201053854	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs201363122	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs202109439	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs267607176	G>C	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs267607177	C>T	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs373906889	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs376633424	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs377731205	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs387907082	G>A	Pathogenic	Coding sequence variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs387907083	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant, intron variant
rs387907084	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs397704721	TGCC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs397704725	GCCAAGAGCCTGCCCTG>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs587776899	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs587776900	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs587776901	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs587784542	C>T	Likely-pathogenic	Upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs587784543	G>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs587784546	->AAAGCAT	Pathogenic	5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs587784548	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs587784549	C>G	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs587784553	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs587784554	A>G	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs587784558	C>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs757091694	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs757294519	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant, intron variant
rs764201220	AGAG>-,AG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs765451882	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant, non coding transcript variant, intron variant
rs769688376	C>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, upstream transcript variant, non coding transcript variant
rs773948810	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs776948954	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs778207666	G>A	Uncertain-significance, pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, synonymous variant, non coding transcript variant
rs779093591	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs797046109	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs863223322	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs863223377	T>C	Pathogenic	Genic upstream transcript variant, missense variant, upstream transcript variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs886041863	T>G	Pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs1006898944	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1064793462	CA>GTGGTCTGAG	Pathogenic	Coding sequence variant, inframe indel, genic downstream transcript variant, stop gained
rs1064797237	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1213710245	->T	Pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1265252597	G>A	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs1379578836	C>A,G,T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs1555723585	->AGCCATCCACTCCCCAGCTCCGC	Pathogenic	Intron variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555725014	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1568334868	ACAGGTCTCCCT>-	Likely-pathogenic	Upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, splice acceptor variant
rs1599760058	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1599774265	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, intron variant
rs1599805729	->GCTG	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1599841026	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1599851667	->C	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1599852762	->GTCCCCAC	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

Show/Hide all (8)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016504	hsa-miR-193b-3p	Microarray	20304954
MIRT045652	hsa-miR-149-5p	CLASH	23622248
MIRT045108	hsa-miR-186-5p	CLASH	23622248
MIRT040399	hsa-miR-615-3p	CLASH	23622248
MIRT039350	hsa-miR-542-5p	CLASH	23622248
MIRT039175	hsa-miR-769-5p	CLASH	23622248
MIRT037077	hsa-miR-877-3p	CLASH	23622248
MIRT052764	hsa-miR-1260b	CLASH	23622248

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	20890278, 20890279
GO:0000922	Component	Spindle pole	IEA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 26297806, 26496610, 28089251, 32296183, 32707033, 35271311, 36931259
GO:0005634	Component	Nucleus	IDA	20729831
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	26297806
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007052	Process	Mitotic spindle organization	IMP	24388750
GO:0007099	Process	Centriole replication	IMP	26297806
GO:0007399	Process	Nervous system development	IEA
GO:0021987	Process	Cerebral cortex development	IMP	20729831
GO:0022008	Process	Neurogenesis	IMP	20890278
GO:0034451	Component	Centriolar satellite	IDA
GO:0045664	Process	Regulation of neuron differentiation	IEA
GO:0046605	Process	Regulation of centrosome cycle	IEA
GO:2001224	Process	Positive regulation of neuron migration	IEA

MIM	HGNC	e!Ensembl
613583	24502	ENSG00000075702

O43379

Protein name

WD repeat-containing protein 62

Protein function

Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20729831, PubMed:20890278). Plays a role in mother-centriole-dependent centriole duplication; the function also seems to involve CEP152, CDK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	101 → 141	WD domain, G-beta repeat	Repeat
PF00400	WD40	348 → 387	WD domain, G-beta repeat	Repeat
PF00400	WD40	399 → 441	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Present in fetal brain, enriched within the ventricular and subventricular zone (at protein level). In the embryonic brain it is expressed in mitotic neural precursor cells. {ECO:0000269|PubMed:20890279}.

Sequence

MAAVGSGGYARNDAGEKLPSVMAGVPARRGQSSPPPAPPICLRRRTRLSTASEETVQNRV
SLEKVLGITAQNSSGLTCDPGTGHVAYLAGCVVVILDPKENKQQHIFNTARKSLSALAFS
PDGKYIVTGENGHRPAVRIWDVEEKNQVAEMLGHKYGVACVAFSPNMKHIVSMGYQHDMV
LNVWDWKKDIVVASNKVSCRVIALSFSEDSSYFVTVGNRHVRFWFLEVSTETKVTSTVPL
VGRSGILGELHNNIFCGVACGRGRMAGSTFCVSYSGLLCQFNEKRVLEKWINLKVSLSSC
LCVSQELIFCGCTDGIVRIFQAHSLHYLANLPKPHYLGVDVAQGLEPSFLFHRKAEAVYP
DTVALTFDPIHQWLSCVYKDHSIYIWDVKDINRVGKVWSELFHSSYVWNVEVYPEFEDQR
ACLPSGSFLTCSSDNTIRFWNLDSSPDSHWQKNIFSNTLLKVVYVENDIQHLQDMSHFPD
RGSENGTPMDVKAGVRVMQVSPDGQHLASGDRSGNLRIHELHFMDELVKVEAHDAEVLCL
EYSKPETGLTLLASASRDRLIHVLNVEKNYNLEQTLDDHSSSITAIKFAGNRDIQMISCG
ADKSIYFRSAQQGSDGLHFVRTHHVAEKTTLYDMDIDITQKYVAVACQDRNVRVYNTVNG
KQKKCYKGSQGDEGSLLKVHVDPSGTFLATSCSDKSISVIDFYSGECIAKMFGHSEIITS
MKFTYDCHHLITVSGDSCVFIWHLGPEITNCMKQHLLEIDHRQQQQHTNDKKRSGHPRQD
TYVSTPSEIHSLSPGEQTEDDLEEECEPEEMLKTPSKDSLDPDPRCLLTNGKLPLWAKRL
LGDDDVADGLAFHAKRSYQPHGRWAERAGQEPLKTILDAQDLDCYFTPMKPESLENSILD
SLEPQSLASLLSESESPQEAGRGHPSFLPQQKESSEASELILYSLEAEVTVTGTDSQYCR
KEVEAGPGDQQGDSYLRVSSDSPKDQSPPEDSGESEADLECSFAAIHSPAPPPDPAPRFA
TSLPHFPGCAGPTEDELSLPEGPSVPSSSLPQTPEQEKFLRHHFETLTESPCRALGDVEA
SEAEDHFFNPRLSISTQFLSSLQKASRFTHTFPPRATQCLVKSPEVKLMDRGGSQPRAGT
GYASPDRTHVLAAGKAEETLEAWRPPPPCLTSLASCVPASSVLPTDRNLPTPTSAPTPGL
AQGVHAPSTCSYMEATASSRARISRSISLGDSEGPIVATLAQPLRRPSSVGELASLGQEL
QAITTATTPSLDSEGQEPALRSWGNHEARANLRLTLSSACDGLLQPPVDTQPGVTVPAVS
FPAPSPVEESALRLHGSAFRPSLPAPESPGLPAHPSNPQLPEARPGIPGGTASLLEPTSG
ALGLLQGSPARWSEPWVPVEALPPSPLELSRVGNILHRLQTTFQEALDLYRVLVSSGQVD
TGQQQARTELVSTFLWIHSQLEAECLVGTSVAPAQALPSPGPPSPPTLYPLASPDLQALL
EHYSELLVQAVRRKARGH

Sequence length

1518

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 (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cerebral morphology	Likely pathogenic	rs2145591077	RCV002275460	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of neuronal migration	Pathogenic	rs863223377	RCV000201429	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Pathogenic	rs1417437683	RCV001814400	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive primary microcephaly	Likely pathogenic	rs2513393044	RCV003123411	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs754976942, rs1973468140	RCV001291204 RCV001291203	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	Likely pathogenic; Pathogenic	rs1970564827, rs2145706114, rs2145516989, rs769137869, rs369923535, rs2145528028, rs2145795692, rs2145586826, rs397704721, rs267607176, rs267607177, rs397704725, rs1234259290, rs750117864, rs587784553 View all (44 more)	RCV001331597 RCV001780405 RCV001785141 RCV001784035 RCV005922525 View all (54 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary microcephaly type 2	Pathogenic	rs387907083	RCV001250231	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skraban-Deardorff syndrome	Likely pathogenic	rs2513454904	RCV003989395	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Pathogenic	rs1284984423	RCV005909115	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
WDR62-related disorder	Pathogenic; Likely pathogenic	rs757827840, rs2513744398	RCV003336451 RCV003335847	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (29)

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; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP II	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar CTD	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly, cortical malformations, and intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Microcephaly 2 With or Without Cortical Malformations	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Microcephaly, Recessive	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ 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 (83)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28277612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	24228726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30392784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	10677332, 20890279, 21668957, 21961505, 22308068, 24148351, 24228726, 24388750, 24479948, 27784895, 28940170, 30021525, 30566428		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	10677332, 21961505, 24228726, 24479948, 26297806, 28377545, 30021525, 32677750, 33921653, 34068194, 34137788, 34402213, 37272619	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal Recessive Primary Microcephaly	Microcephaly	ORPHANET_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive primary microcephaly	Microcephaly	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30942440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34137788, 37272619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30091641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30091641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35758246	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30942440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28277612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	24228726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35758246	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	33921653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	20729831, 21496009, 22308068, 23065275, 28272472, 30706430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	BEFREE	30706430		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortical Dysplasia	Cortical Dysplasia	CTD_human_DG	23341463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	24479948, 33921653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	30884127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	28377545	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	20729831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	28756000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	28756000		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	30500859	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Lissencephaly	BEFREE	20729831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	30091641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	25385192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	CTD_human_DG	23341463		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Cortical development malformation	Pubtator	23341463, 25385192, 33921653	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Malformation of cortical development	BEFREE	30706430		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Malformation of cortical development	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	30091641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28277612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23920402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30942440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23920402, 28277612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	20729831, 20890279, 22899712, 24228726, 24388750, 25385192, 27852057, 28272472, 28625535, 28756000, 28973348, 30091641, 30706430, 31197141, 31816041		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Microcephaly	CTD_human_DG	20890278, 20890279		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Microcephaly	Pubtator	20890278, 23341463, 24228726, 25385192, 25501809, 26297806, 28377545, 30021525, 30091641, 32677750, 33921653, 34068194, 37272619	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly Primary Autosomal Recessive 2	Microcephaly	Pubtator	24228726, 33921653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly, Primary Autosomal Recessive, 2	Microcephaly	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)	Microcephaly	UNIPROT_DG	20729831, 20890278, 20890279, 21496009		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)	Microcephaly	GENOMICS_ENGLAND_DG	20890278, 28377545		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)	Microcephaly	BEFREE	27852057, 28756000		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)	Microcephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly, Primary Autosomal Recessive, 6	Microcephaly	BEFREE	20978018		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder)	Microcephaly	BEFREE	20978018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microlissencephaly	Microlissencephaly	CTD_human_DG	20890278, 20890279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microlissencephaly	Microlissencephaly	BEFREE	24842779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	24842779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30942440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	24388750, 24479948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	30102701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	BEFREE	30091641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	21834044		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Polymicrogyria	Pubtator	21834044, 33818783	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature Menopause	Premature Menopause	BEFREE	30102701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	BEFREE	22308068, 23065275, 25303973, 26577670, 28277612, 28625535, 31696992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizencephaly	Schizencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	20890278, 20890279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23920402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	28756000		★★★★★ ★☆☆☆☆ Found in Text Mining only

WDR62 (WD repeat domain 62)