Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8295
Gene name	Transformation/transcription domain associated protein
Gene symbol	TRRAP
Synonyms (NCBI Gene)	DEDDFADFNA75PAF350/400PAF400STAF40TR-APTra1
Chromosome	7
Chromosome location	7q22.1
Summary	This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by r

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SNP ID	Visualize variation	Clinical significance	Consequence
rs200157211	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs1562940289	C>T	Pathogenic	Coding sequence variant, missense variant
rs1562945106	G>A	Pathogenic	Coding sequence variant, missense variant
rs1562957569	T>A	Pathogenic	Coding sequence variant, missense variant
rs1562957576	G>T	Pathogenic	Coding sequence variant, missense variant
rs1562959030	G>A	Pathogenic	Coding sequence variant, missense variant
rs1584324956	G>A	Likely-pathogenic	Missense variant, coding sequence variant

135

Show/Hide all (135)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017022	hsa-miR-335-5p	Microarray	18185580
MIRT021348	hsa-miR-9-5p	Microarray	17612493
MIRT028429	hsa-miR-30a-5p	Proteomics	18668040
MIRT052563	hsa-let-7a-5p	CLASH	23622248
MIRT052563	hsa-let-7a-5p	CLASH	23622248
MIRT051861	hsa-let-7c-5p	CLASH	23622248
MIRT051634	hsa-let-7e-5p	CLASH	23622248
MIRT050991	hsa-miR-17-5p	CLASH	23622248
MIRT050404	hsa-miR-23a-3p	CLASH	23622248
MIRT049886	hsa-miR-31-5p	CLASH	23622248
MIRT047272	hsa-miR-181b-5p	CLASH	23622248
MIRT045381	hsa-miR-185-5p	CLASH	23622248
MIRT044338	hsa-miR-106b-5p	CLASH	23622248
MIRT043836	hsa-miR-330-3p	CLASH	23622248
MIRT041264	hsa-miR-193b-3p	CLASH	23622248
MIRT036716	hsa-miR-760	CLASH	23622248
MIRT036320	hsa-miR-1229-3p	CLASH	23622248
MIRT036039	hsa-miR-1301-3p	CLASH	23622248
MIRT1457893	hsa-miR-1197	CLIP-seq
MIRT1457894	hsa-miR-1252	CLIP-seq
MIRT1457895	hsa-miR-125a-3p	CLIP-seq
MIRT1457896	hsa-miR-1321	CLIP-seq
MIRT1457897	hsa-miR-181a	CLIP-seq
MIRT1457898	hsa-miR-181b	CLIP-seq
MIRT1457899	hsa-miR-181c	CLIP-seq
MIRT1457900	hsa-miR-181d	CLIP-seq
MIRT1457901	hsa-miR-2052	CLIP-seq
MIRT1457902	hsa-miR-27a	CLIP-seq
MIRT1457903	hsa-miR-27b	CLIP-seq
MIRT1457904	hsa-miR-3130-5p	CLIP-seq
MIRT1457905	hsa-miR-3180-5p	CLIP-seq
MIRT1457906	hsa-miR-320a	CLIP-seq
MIRT1457907	hsa-miR-320b	CLIP-seq
MIRT1457908	hsa-miR-320c	CLIP-seq
MIRT1457909	hsa-miR-320d	CLIP-seq
MIRT1457910	hsa-miR-3609	CLIP-seq
MIRT1457911	hsa-miR-3662	CLIP-seq
MIRT1457912	hsa-miR-3673	CLIP-seq
MIRT1457913	hsa-miR-3686	CLIP-seq
MIRT1457914	hsa-miR-371-5p	CLIP-seq
MIRT1457915	hsa-miR-371b-5p	CLIP-seq
MIRT1457916	hsa-miR-3934	CLIP-seq
MIRT1457917	hsa-miR-4262	CLIP-seq
MIRT1457918	hsa-miR-4419a	CLIP-seq
MIRT1457919	hsa-miR-4429	CLIP-seq
MIRT1457920	hsa-miR-4453	CLIP-seq
MIRT1457921	hsa-miR-4467	CLIP-seq
MIRT1457922	hsa-miR-4476	CLIP-seq
MIRT1457923	hsa-miR-4482	CLIP-seq
MIRT1457924	hsa-miR-4497	CLIP-seq
MIRT1457925	hsa-miR-4510	CLIP-seq
MIRT1457926	hsa-miR-4538	CLIP-seq
MIRT1457927	hsa-miR-4652-3p	CLIP-seq
MIRT1457928	hsa-miR-4659a-3p	CLIP-seq
MIRT1457929	hsa-miR-4659b-3p	CLIP-seq
MIRT1457930	hsa-miR-4698	CLIP-seq
MIRT1457931	hsa-miR-4739	CLIP-seq
MIRT1457932	hsa-miR-4756-5p	CLIP-seq
MIRT1457933	hsa-miR-486-5p	CLIP-seq
MIRT1457934	hsa-miR-488	CLIP-seq
MIRT1457935	hsa-miR-511	CLIP-seq
MIRT1457936	hsa-miR-513a-5p	CLIP-seq
MIRT1457937	hsa-miR-513c	CLIP-seq
MIRT1457938	hsa-miR-514b-5p	CLIP-seq
MIRT1457939	hsa-miR-520a-5p	CLIP-seq
MIRT1457940	hsa-miR-520d-5p	CLIP-seq
MIRT1457941	hsa-miR-524-5p	CLIP-seq
MIRT1457942	hsa-miR-525-5p	CLIP-seq
MIRT1457943	hsa-miR-548ag	CLIP-seq
MIRT1457944	hsa-miR-548ah	CLIP-seq
MIRT1457945	hsa-miR-548ai	CLIP-seq
MIRT1457946	hsa-miR-548n	CLIP-seq
MIRT1457947	hsa-miR-548t	CLIP-seq
MIRT1457948	hsa-miR-548u	CLIP-seq
MIRT1457949	hsa-miR-764	CLIP-seq
MIRT1457894	hsa-miR-1252	CLIP-seq
MIRT1457895	hsa-miR-125a-3p	CLIP-seq
MIRT2137352	hsa-miR-3194-3p	CLIP-seq
MIRT1457906	hsa-miR-320a	CLIP-seq
MIRT1457907	hsa-miR-320b	CLIP-seq
MIRT1457908	hsa-miR-320c	CLIP-seq
MIRT1457909	hsa-miR-320d	CLIP-seq
MIRT2137353	hsa-miR-338-3p	CLIP-seq
MIRT1457913	hsa-miR-3686	CLIP-seq
MIRT1457916	hsa-miR-3934	CLIP-seq
MIRT1457919	hsa-miR-4429	CLIP-seq
MIRT1457927	hsa-miR-4652-3p	CLIP-seq
MIRT2137354	hsa-miR-4727-5p	CLIP-seq
MIRT2137355	hsa-miR-4769-3p	CLIP-seq
MIRT1457933	hsa-miR-486-5p	CLIP-seq
MIRT1457940	hsa-miR-520d-5p	CLIP-seq
MIRT1457941	hsa-miR-524-5p	CLIP-seq
MIRT1457949	hsa-miR-764	CLIP-seq
MIRT2137353	hsa-miR-338-3p	CLIP-seq
MIRT1457940	hsa-miR-520d-5p	CLIP-seq
MIRT1457941	hsa-miR-524-5p	CLIP-seq
MIRT2358118	hsa-miR-548c-3p	CLIP-seq
MIRT2651550	hsa-miR-1207-5p	CLIP-seq
MIRT2651551	hsa-miR-1257	CLIP-seq
MIRT2651552	hsa-miR-1827	CLIP-seq
MIRT1457904	hsa-miR-3130-5p	CLIP-seq
MIRT1457905	hsa-miR-3180-5p	CLIP-seq
MIRT2651553	hsa-miR-3182	CLIP-seq
MIRT2137352	hsa-miR-3194-3p	CLIP-seq
MIRT1457912	hsa-miR-3673	CLIP-seq
MIRT2651554	hsa-miR-3675-5p	CLIP-seq
MIRT2651555	hsa-miR-4283	CLIP-seq
MIRT1457920	hsa-miR-4453	CLIP-seq
MIRT1457923	hsa-miR-4482	CLIP-seq
MIRT2651556	hsa-miR-4489	CLIP-seq
MIRT1457926	hsa-miR-4538	CLIP-seq
MIRT2651557	hsa-miR-4677-3p	CLIP-seq
MIRT2651558	hsa-miR-4679	CLIP-seq
MIRT2651559	hsa-miR-4738-3p	CLIP-seq
MIRT2651560	hsa-miR-4763-3p	CLIP-seq
MIRT1457934	hsa-miR-488	CLIP-seq
MIRT1457939	hsa-miR-520a-5p	CLIP-seq
MIRT1457942	hsa-miR-525-5p	CLIP-seq
MIRT2651561	hsa-miR-940	CLIP-seq
MIRT2651550	hsa-miR-1207-5p	CLIP-seq
MIRT2651551	hsa-miR-1257	CLIP-seq
MIRT2651552	hsa-miR-1827	CLIP-seq
MIRT1457904	hsa-miR-3130-5p	CLIP-seq
MIRT2651553	hsa-miR-3182	CLIP-seq
MIRT2651554	hsa-miR-3675-5p	CLIP-seq
MIRT2694213	hsa-miR-4270	CLIP-seq
MIRT2651555	hsa-miR-4283	CLIP-seq
MIRT2694214	hsa-miR-4441	CLIP-seq
MIRT1457923	hsa-miR-4482	CLIP-seq
MIRT2651556	hsa-miR-4489	CLIP-seq
MIRT2651557	hsa-miR-4677-3p	CLIP-seq
MIRT2651558	hsa-miR-4679	CLIP-seq
MIRT2651559	hsa-miR-4738-3p	CLIP-seq
MIRT2651560	hsa-miR-4763-3p	CLIP-seq
MIRT2651561	hsa-miR-940	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000124	Component	SAGA complex	IBA
GO:0000124	Component	SAGA complex	IDA	11564863
GO:0000124	Component	SAGA complex	NAS	9674425, 9885574, 19114550
GO:0000786	Component	Nucleosome	IDA	27153538
GO:0000812	Component	Swr1 complex	IDA	24463511
GO:0003712	Function	Transcription coregulator activity	IDA	11418595
GO:0005515	Function	Protein binding	IPI	9708738, 11418595, 15115762, 17314511, 21150319, 24981860, 35140242, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9708738
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0006282	Process	Regulation of DNA repair	NAS	11406595, 11564863
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	17694077
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	9603525
GO:0016301	Function	Kinase activity	IKR	9708738
GO:0033276	Component	Transcription factor TFTC complex	IDA	10373431
GO:0033276	Component	Transcription factor TFTC complex	NAS	10373431
GO:0035267	Component	NuA4 histone acetyltransferase complex	IBA
GO:0035267	Component	NuA4 histone acetyltransferase complex	IDA	10966108, 14966270, 27153538
GO:0042981	Process	Regulation of apoptotic process	NAS	14966270
GO:0043484	Process	Regulation of RNA splicing	NAS	11564863
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	18206972, 27153538
GO:0051726	Process	Regulation of cell cycle	IMP	27153538
GO:0080135	Process	Regulation of cellular response to stress	IEA
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IBA
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	27153538
GO:2000779	Process	Regulation of double-strand break repair	NAS	14966270

MIM	HGNC	e!Ensembl
603015	12347	ENSG00000196367

Q9Y4A5

Protein name

Transformation/transcription domain-associated protein (350/400 kDa PCAF-associated factor) (PAF350/400) (STAF40) (Tra1 homolog)

Protein function

Adapter protein, which is found in various multiprotein chromatin complexes with histone acetyltransferase activity (HAT), which gives a specific tag for epigenetic transcription activation. Component of the NuA4 histone acetyltransferase comple

PDB

7KTR , 8H7G , 8QRI , 8XVG , 8XVV , 9C47

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02259	FAT	2849 → 3204	FAT domain	Family
PF00454	PI3_PI4_kinase	3535 → 3783	Phosphatidylinositol 3- and 4-kinase	Family

Sequence

MAFVATQGATVVDQTTLMKKYLQFVAALTDVNTPDETKLKMMQEVSENFENVTSSPQYST
FLEHIIPRFLTFLQDGEVQFLQEKPAQQLRKLVLEIIHRIPTNEHLRPHTKNVLSVMFRF
LETENEENVLICLRIIIELHKQFRPPITQEIHHFLDFVKQIYKELPKVVNRYFENPQVIP
ENTVPPPEMVGMITTIAVKVNPEREDSETRTHSIIPRGSLSLKVLAELPIIVVLMYQLYK
LNIHNVVAEFVPLIMNTIAIQVSAQARQHKLYNKELYADFIAAQIKTLSFLAYIIRIYQE
LVTKYSQQMVKGMLQLLSNCPAETAHLRKELLIAAKHILTTELRNQFIPCMDKLFDESIL
IGSGYTARETLRPLAYSTLADLVHHVRQHLPLSDLSLAVQLFAKNIDDESLPSSIQTMSC
KLLLNLVDCIRSKSEQESGNGRDVLMRMLEVFVLKFHTIARYQLSAIFKKCKPQSELGAV
EAALPGVPTAPAAPGPAPSPAPVPAPPPPPPPPPPATPVTPAPVPPFEKQGEKDKEDKQT
FQVTDCRSLVKTLVCGVKTITWGITSCKAPGEAQFIPNKQLQPKETQIYIKLVKYAMQAL
DIYQVQIAGNGQTYIRVANCQTVRMKEEKEVLEHFAGVFTMMNPLTFKEIFQTTVPYMVE
RISKNYALQIVANSFLANPTTSALFATILVEYLLDRLPEMGSNVELSNLYLKLFKLVFGS
VSLFAAENEQMLKPHLHKIVNSSMELAQTAKEPYNYFLLLRALFRSIGGGSHDLLYQEFL
PLLPNLLQGLNMLQSGLHKQHMKDLFVELCLTVPVRLSSLLPYLPMLMDPLVSALNGSQT
LVSQGLRTLELCVDNLQPDFLYDHIQPVRAELMQALWRTLRNPADSISHVAYRVLGKFGG
SNRKMLKESQKLHYVVTEVQGPSITVEFSDCKASLQLPMEKAIETALDCLKSANTEPYYR
RQAWEVIKCFLVAMMSLEDNKHALYQLLAHPNFTEKTIPNVIISHRYKAQDTPARKTFEQ
ALTGAFMSAVIKDLRPSALPFVASLIRHYTMVAVAQQCGPFLLPCYQVGSQPSTAMFHSE
ENGSKGMDPLVLIDAIAICMAYEEKELCKIGEVALAVIFDVASIILGSKERACQLPLFSY
IVERLCACCYEQAWYAKLGGVVSIKFLMERLPLTWVLQNQQTFLKALLFVMMDLTGEVSN
GAVAMAKTTLEQLLMRCATPLKDEERAEEIVAAQEKSFHHVTHDLVREVTSPNSTVRKQA
MHSLQVLAQVTGKSVTVIMEPHKEVLQDMVPPKKHLLRHQPANAQIGLMEGNTFCTTLQP
RLFTMDLNVVEHKVFYTELLNLCEAEDSALTKLPCYKSLPSLVPLRIAALNALAACNYLP
QSREKIIAALFKALNSTNSELQEAGEACMRKFLEGATIEVDQIHTHMRPLLMMLGDYRSL
TLNVVNRLTSVTRLFPNSFNDKFCDQMMQHLRKWMEVVVITHKGGQRSDGNESISECGRC
PLSPFCQFEEMKICSAIINLFHLIPAAPQTLVKPLLEVVMKTERAMLIEAGSPFREPLIK
FLTRHPSQTVELFMMEATLNDPQWSRMFMSFLKHKDARPLRDVLAANPNRFITLLLPGGA
QTAVRPGSPSTSTMRLDLQFQAIKIISIIVKNDDSWLASQHSLVSQLRRVWVSENFQERH
RKENMAATNWKEPKLLAYCLLNYCKRNYGDIELLFQLLRAFTGRFLCNMTFLKEYMEEEI
PKNYSIAQKRALFFRFVDFNDPNFGDELKAKVLQHILNPAFLYSFEKGEGEQLLGPPNPE
GDNPESITSVFITKVLDPEKQADMLDSLRIYLLQYATLLVEHAPHHIHDNNKNRNSKLRR
LMTFAWPCLLSKACVDPACKYSGHLLLAHIIAKFAIHKKIVLQVFHSLLKAHAMEARAIV
RQAMAILTPAVPARMEDGHQMLTHWTRKIIVEEGHTVPQLVHILHLIVQHFKVYYPVRHH
LVQHMVSAMQRLGFTPSVTIEQRRLAVDLSEVVIKWELQRIKDQQPDSDMDPNSSGEGVN
SVSSSIKRGLSVDSAQEVKRFRTATGAISAVFGRSQSLPGADSLLAKPIDKQHTDTVVNF
LIRVACQVNDNTNTAGSPGEVLSRRCVNLLKTALRPDMWPKSELKLQWFDKLLMTVEQPN
QVNYGNICTGLEVLSFLLTVLQSPAILSSFKPLQRGIAACMTCGNTKVLRAVHSLLSRLM
SIFPTEPSTSSVASKYEELECLYAAVGKVIYEGLTNYEKATNANPSQLFGTLMILKSACS
NNPSYIDRLISVFMRSLQKMVREHLNPQAASGSTEATSGTSELVMLSLELVKTRLAVMSM
EMRKNFIQAILTSLIEKSPDAKILRAVVKIVEEWVKNNSPMAANQTPTLREKSILLVKMM
TYIEKRFPEDLELNAQFLDLVNYVYRDETLSGSELTAKLEPAFLSGLRCAQPLIRAKFFE
VFDNSMKRRVYERLLYVTCSQNWEAMGNHFWIKQCIELLLAVCEKSTPIGTSCQGAMLPS
ITNVINLADSHDRAAFAMVTHVKQEPRERENSESKEEDVEIDIELAPGDQTSTPKTKELS
EKDIGNQLHMLTNRHDKFLDTLREVKTGALLSAFVQLCHISTTLAEKTWVQLFPRLWKIL
SDRQQHALAGEISPFLCSGSHQVQRDCQPSALNCFVEAMSQCVPPIPIRPCVLKYLGKTH
NLWFRSTLMLEHQAFEKGLSLQIKPKQTTEFYEQESITPPQQEILDSLAELYSLLQEEDM
WAGLWQKRCKYSETATAIAYEQHGFFEQAQESYEKAMDKAKKEHERSNASPAIFPEYQLW
EDHWIRCSKELNQWEALTEYGQSKGHINPYLVLECAWRVSNWTAMKEALVQVEVSCPKEM
AWKVNMYRGYLAICHPEEQQLSFIERLVEMASSLAIREWRRLPHVVSHVHTPLLQAAQQI
IELQEAAQINAGLQPTNLGRNNSLHDMKTVVKTWRNRLPIVSDDLSHWSSIFMWRQHHYQ
GKPTWSGMHSSSIVTAYENSSQHDPSSNNAMLGVHASASAIIQYGKIARKQGLVNVALDI
LSRIHTIPTVPIVDCFQKIRQQVKCYLQLAGVMGKNECMQGLEVIESTNLKYFTKEMTAE
FYALKGMFLAQINKSEEANKAFSAAVQMHDVLVKAWAMWGDYLENIFVKERQLHLGVSAI
TCYLHACRHQNESKSRKYLAKVLWLLSFDDDKNTLADAVDKYCIGVPPIQWLAWIPQLLT
CLVGSEGKLLLNLISQVGRVYPQAVYFPIRTLYLTLKIEQRERYKSDPGPIRATAPMWRC
SRIMHMQRELHPTLLSSLEGIVDQMVWFRENWHEEVLRQLQQGLAKCYSVAFEKSGAVSD
AKITPHTLNFVKKLVSTFGVGLENVSNVSTMFSSAASESLARRAQATAQDPVFQKLKGQF
TTDFDFSVPGSMKLHNLISKLKKWIKILEAKTKQLPKFFLIEEKCRFLSNFSAQTAEVEI
PGEFLMPKPTHYYIKIARFMPRVEIVQKHNTAARRLYIRGHNGKIYPYLVMNDACLTESR
REERVLQLLRLLNPCLEKRKETTKRHLFFTVPRVVAVSPQMRLVEDNPSSLSLVEIYKQR
CAKKGIEHDNPISRYYDRLATVQARGTQASHQVLRDILKEVQSNMVPRSMLKEWALHTFP
NATDYWTFRKMFTIQLALIGFAEFVLHLNRLNPEMLQIAQDTGKLNVAYFRFDINDATGD
LDANRPVPFRLTPNISEFLTTIGVSGPLTASMIAVARCFAQPNFKVDGILKTVLRDEIIA
WHKKTQEDTSSPLSAAGQPENMDSQQLVSLVQKAVTAIMTRLHNLAQFEGGESKVNTLVA
AANSLDNLCRMDPAWHPWL

Sequence length

3859

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Human T-cell leukemia virus 1 infection		Formation of the beta-catenin:TCF transactivating complex Ub-specific processing proteases

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
Developmental delay with or without dysmorphic facies and autism	Likely pathogenic; Pathogenic	rs1790257064, rs2116495143, rs2116509105, rs2116411134, rs2484789514, rs2484868235, rs2116512210, rs2484874664, rs1562940289, rs1562957569, rs1562957576, rs1790093579, rs1793524609, rs1791432323, rs1790288810	RCV001329708 RCV001775301 RCV002249192 RCV002250858 RCV002465396 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Likely pathogenic	rs2116495128	RCV001255411	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal dominant 75	Likely pathogenic; Pathogenic	rs2484735353, rs1793524609	RCV003883271 RCV002504375	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs1584324956	RCV000850613	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRRAP-related neurodevelopmental disorder	Likely pathogenic	rs1187165148	RCV001797038	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (32)

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
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex neurodevelopmental disorder with or without congenital anomalies	Benign; Likely benign; Uncertain significance	ClinVar ClinGen, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEAFNESS, AUTOSOMAL DOMINANT 75	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance; Likely benign	ClinVar CTD	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teratoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRAPP-associated developmental delay	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRRAP-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (112)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Accessory nipple	Accessory Nipple	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26059363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	28471274, 36103385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	24969835	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	24969835	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	30827496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	GENOMICS_ENGLAND_DG	28628100, 30424743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30827496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	30827496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	36103385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	20085741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	23612572	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11931763	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	29327707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16434963, 31188495	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37964489	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29936929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	33685460	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	BEFREE	29588376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29653964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36180906	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29653964, 33836681, 35244540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	GENOMICS_ENGLAND_DG	28628100, 30424743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	24969835, 28471274, 36103385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	30424743	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28471274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22512921		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	30424743	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	28628100, 30424743		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Growth Disorders	Growth disorder	Pubtator	28471274, 36103385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	40004049	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	40004049	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermaphroditism	Hermaphroditism	BEFREE	29493066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	28628100, 30424743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30827496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30827496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	30424743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	30424743	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Hypomyelinating with Hypodontia and Hypogonadotropic Hypogonadism	Hypomyelinating leukodystrophy	Pubtator	28471274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31188495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	12200383, 15827139, 29653964		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	29653964	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Follicular	Lymphoma	BEFREE	30417470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31188495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29936929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27701467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17694078, 26548627, 29653964, 31188495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29653964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	16618975	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	21499247		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma	Melanoma	Pubtator	21499247	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	CGI_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	28628100, 30424743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12200383		★★★★★ ★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20085741, 29936929, 31034097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	15778291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19955365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	30424743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19360007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	BEFREE	30424743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	30424743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32944406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Mucinous Adenocarcinoma	Ovarian adenocarcinoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29936929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16036106, 17233815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27701467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27701467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	30424743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	30424743	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic episodes	Psychosis	BEFREE	30424743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21822266, 23042115		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	30424743, 31538360		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	30424743	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	19955365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37373553	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	23050522, 26975546, 27328415, 28545044		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36686473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	24969835, 28471274, 36103385, 36191835, 39299378	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	30827496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TRRAP (transformation/transcription domain associated protein)