UBR4 (ubiquitin protein ligase E3 component n-recognin 4)

Gene

• Entrez ID: 23352
• Gene name: Ubiquitin protein ligase E3 component n-recognin 4
• Gene symbol: UBR4
• Synonyms (NCBI Gene): RBAF600, ZUBR1, p600
• Chromosome: 1
• Chromosome location: 1p36.13
• Summary: The protein encoded by this gene is an E3 ubiquitin-protein ligase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound calmodulin in the cytoplasm. The encoded protein appears to be a cytoskeletal component in t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144709443	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs747867083	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs748323629	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs761960636	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs776593168	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020486	hsa-miR-155-5p	Proteomics	18668040
MIRT021907	hsa-miR-128-3p	Sequencing	20371350
MIRT025219	hsa-miR-34a-5p	Proteomics	21566225
MIRT025219	hsa-miR-34a-5p	Proteomics	21566225
MIRT025219	hsa-miR-34a-5p	Proteomics	21566225
MIRT050176	hsa-miR-26a-5p	CLASH	23622248
MIRT045339	hsa-miR-185-5p	CLASH	23622248
MIRT043973	hsa-miR-378a-5p	CLASH	23622248
MIRT038352	hsa-miR-296-3p	CLASH	23622248
MIRT038352	hsa-miR-296-3p	CLASH	23622248
MIRT037272	hsa-miR-877-5p	CLASH	23622248
MIRT037028	hsa-miR-877-3p	CLASH	23622248
MIRT050176	hsa-miR-26a-5p	HITS-CLIP	22473208
MIRT726189	hsa-miR-26b-5p	HITS-CLIP	22473208
MIRT020486	hsa-miR-155-5p	PAR-CLIP	26701625
MIRT020486	hsa-miR-155-5p	PAR-CLIP	26701625
MIRT1471481	hsa-miR-103b	CLIP-seq
MIRT1471482	hsa-miR-127-5p	CLIP-seq
MIRT1471483	hsa-miR-1297	CLIP-seq
MIRT1471484	hsa-miR-135a	CLIP-seq
MIRT1471485	hsa-miR-135b	CLIP-seq
MIRT1471486	hsa-miR-138	CLIP-seq
MIRT1471487	hsa-miR-224	CLIP-seq
MIRT1471488	hsa-miR-26a	CLIP-seq
MIRT1471489	hsa-miR-26b	CLIP-seq
MIRT1471490	hsa-miR-3152-3p	CLIP-seq
MIRT1471491	hsa-miR-3614-5p	CLIP-seq
MIRT1471492	hsa-miR-3940-5p	CLIP-seq
MIRT1471493	hsa-miR-4465	CLIP-seq
MIRT1471494	hsa-miR-4507	CLIP-seq
MIRT1471495	hsa-miR-548q	CLIP-seq
MIRT1471496	hsa-miR-576-3p	CLIP-seq
MIRT1471497	hsa-miR-577	CLIP-seq
MIRT1471498	hsa-miR-767-5p	CLIP-seq
MIRT1471482	hsa-miR-127-5p	CLIP-seq
MIRT1471483	hsa-miR-1297	CLIP-seq
MIRT1471487	hsa-miR-224	CLIP-seq
MIRT1471488	hsa-miR-26a	CLIP-seq
MIRT1471489	hsa-miR-26b	CLIP-seq
MIRT1471490	hsa-miR-3152-3p	CLIP-seq
MIRT2141899	hsa-miR-320e	CLIP-seq
MIRT1471491	hsa-miR-3614-5p	CLIP-seq
MIRT1471493	hsa-miR-4465	CLIP-seq
MIRT2141900	hsa-miR-4743	CLIP-seq
MIRT2141901	hsa-miR-513c	CLIP-seq
MIRT2141902	hsa-miR-514b-5p	CLIP-seq
MIRT2141903	hsa-miR-549	CLIP-seq
MIRT1471496	hsa-miR-576-3p	CLIP-seq
MIRT1471497	hsa-miR-577	CLIP-seq
MIRT2141904	hsa-miR-671-5p	CLIP-seq
MIRT2362560	hsa-miR-103a	CLIP-seq
MIRT2362561	hsa-miR-107	CLIP-seq
MIRT1471482	hsa-miR-127-5p	CLIP-seq
MIRT1471483	hsa-miR-1297	CLIP-seq
MIRT2362562	hsa-miR-1471	CLIP-seq
MIRT2362563	hsa-miR-155	CLIP-seq
MIRT1471488	hsa-miR-26a	CLIP-seq
MIRT1471489	hsa-miR-26b	CLIP-seq
MIRT2141899	hsa-miR-320e	CLIP-seq
MIRT2362564	hsa-miR-324-5p	CLIP-seq
MIRT1471493	hsa-miR-4465	CLIP-seq
MIRT2141900	hsa-miR-4743	CLIP-seq
MIRT2141901	hsa-miR-513c	CLIP-seq
MIRT2141902	hsa-miR-514b-5p	CLIP-seq
MIRT2141903	hsa-miR-549	CLIP-seq
MIRT1471496	hsa-miR-576-3p	CLIP-seq
MIRT1471497	hsa-miR-577	CLIP-seq
MIRT2362565	hsa-miR-658	CLIP-seq
MIRT2141904	hsa-miR-671-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002181	Process	Cytoplasmic translation	IC	23636399
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA
GO:0005515	Function	Protein binding	IPI	16061792, 22810586, 23932781, 32814053
GO:0005516	Function	Calmodulin binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	29033132, 38297121
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005829	Component	Cytosol	IDA	29033132
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006413	Process	Translational initiation	IDA	16289705
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	23932781, 34893540
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IDA	23555265
GO:0006633	Process	Fatty acid biosynthetic process	IDA	10653665, 19286649
GO:0006979	Process	Response to oxidative stress	IDA	34893540
GO:0007032	Process	Endosome organization	IEA
GO:0007032	Process	Endosome organization	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IDA	34711951
GO:0010508	Process	Positive regulation of autophagy	IEA
GO:0010508	Process	Positive regulation of autophagy	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0033554	Process	Cellular response to stress	IDA	32132706, 32132707
GO:0035579	Component	Specific granule membrane	TAS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	23555265, 37891180, 38297121
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0044314	Process	Protein K27-linked ubiquitination	IDA	34893540
GO:0045717	Process	Negative regulation of fatty acid biosynthetic process	IDA	23932781
GO:0046872	Function	Metal ion binding	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0060337	Process	Type I interferon-mediated signaling pathway	IMP	23391734
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	23932781, 29033132, 34893540, 37891180, 38030679, 38182926, 38297121
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	29033132, 38297121
GO:0070979	Process	Protein K11-linked ubiquitination	IDA	29033132
GO:0071211	Process	Protein targeting to vacuole involved in autophagy	IDA	34893540
GO:0071596	Process	Ubiquitin-dependent protein catabolic process via the N-end rule pathway	IDA	38030679
GO:0071596	Process	Ubiquitin-dependent protein catabolic process via the N-end rule pathway	IEA
GO:0071629	Process	Cytoplasm protein quality control by the ubiquitin-proteasome system	IDA	29033132
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:0140455	Process	Cytoplasm protein quality control	IDA	29033132
GO:0140468	Process	HRI-mediated signaling	IDA	32132706, 32132707
GO:0141191	Process	Negative regulation of HRI-mediated signaling	IDA	38297121
GO:0141198	Process	Protein branched polyubiquitination	IDA	29033132
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	23555265

Other IDs

• MIM: 609890
• HGNC: 30313
• e!Ensembl: ENSG00000127481

Protein

• UniProt ID: Q5T4S7
• Protein name: E3 ubiquitin-protein ligase UBR4 (EC 2.3.2.27) (600 kDa retinoblastoma protein-associated factor) (p600) (N-recognin-4) (Retinoblastoma-associated factor of 600 kDa) (RBAF600)
• Protein function: E3 ubiquitin-protein ligase involved in different protein quality control pathways in the cytoplasm (PubMed:25582440, PubMed:29033132, PubMed:34893540, PubMed:37891180, PubMed:38030679, PubMed:38182926, PubMed:38297121). Component of the N-end r
• PDB: 8B5W, 8BTL, 8J9Q, 8J9R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02207	zf-UBR	1661 → 1726	Putative zinc finger in N-recognin (UBR box)	Family
  PF13764	E3_UbLigase_R4	4367 → 5163	E3 ubiquitin-protein ligase UBR4	Family

• Sequence:

  MATSGGEEAAAAAPAPGTPATGADTTPGWEVAVRPLLSASYSAFEMKELPQLVASVIESE
  SEILHHEKQYEPFYSSFVALSTHYITTVCSLIPRNQLQSVAAACKVLIEFSLLRLENPDE
  ACAVSQKHLILLIKGLCTGCSRLDRTEIITFTAMMKSAKLPQTVKTLSDVEDQKELASPV
  SPELRQKEVQMNFLNQLTSVFNPRTVASQPISTQTLVEGENDEQSSTDQASAIKTKNVFI
  AQNVASLQELGGSEKLLRVCLNLPYFLRYINRFQDAVLANSFFIMPATVADATAVRNGFH
  SLVIDVTMALDTLSLPVLEPLNPSRLQDVTVLSLSCLYAGVSVATCMAILHVGSAQQVRT
  GSTSSKEDDYESDAATIVQKCLEIYDMIGQAISSSRRAGGEHYQNFQLLGAWCLLNSLFL
  ILNLSPTALADKGKEKDPLAALRVRDILSRTKEGVGSPKLGPGKGHQGFGVLSVILANHA
  IKLLTSLFQDLQVEALHKGWETDGPPAALSIMAQSTSIQRIQRLIDSVPLMNLLLTLLST
  SYRKACVLQRQRKGSMSSDASASTDSNTYYEDDFSSTEEDSSQDDDSEPILGQWFEETIS
  PSKEKAAPPPPPPPPPLESSPRVKSPSKQAPGEKGNILASRKDPELFLGLASNILNFITS
  SMLNSRNNFIRNYLSVSLSEHHMATLASIIKEVDKDGLKGSSDEEFAAALYHFNHSLVTS
  DLQSPNLQNTLLQQLGVAPFSEGPWPLYIHPQSLSVLSRLLLIWQHKASAQGDPDVPECL
  KVWDRFLSTMKQNALQGVVPSETEDLNVEHLQMLLLIFHNFTETGRRAILSLFVQIIQEL
  SVNMDAQMRFVPLILARLLLIFDYLLHQYSKAPVYLFEQVQHNLLSPPFGWASGSQDSNS
  RRATTPLYHGFKEVEENWSKHFSSDAVPHPRFYCVLSPEASEDDLNRLDSVACDVLFSKL
  VKYDELYAALTALLAAGSQLDTVRRKENKNVTALEACALQYYFLILWRILGILPPSKTYI
  NQLSMNSPEMSECDILHTLRWSSRLRISSYVNWIKDHLIKQGMKAEHASSLLELASTTKC
  SSVKYDVEIVEEYFARQISSFCSIDCTTILQLHEIPSLQSIYTLDAAISKVQVSLDEHFS
  KMAAETDPHKSSEITKNLLPATLQLIDTYASFTRAYLLQNFNEEGTTEKPSKEKLQGFAA
  VLAIGSSRCKANTLGPTLVQNLPSSVQTVCESWNNINTNEFPNIGSWRNAFANDTIPSES
  YISAVQAAHLGTLCSQSLPLAASLKHTLLSLVRLTGDLIVWSDEMNPPQVIRTLLPLLLE
  SSTESVAEISSNSLERILGPAESDEFLARVYEKLITGCYNILANHADPNSGLDESILEEC
  LQYLEKQLESSQARKAMEEFFSDSGELVQIMMATANENLSAKFCNRVLKFFTKLFQLTEK
  SPNPSLLHLCGSLAQLACVEPVRLQAWLTRMTTSPPKDSDQLDVIQENRQLLQLLTTYIV
  RENSQVGEGVCAVLLGTLTPMATEMLANGDGTGFPELMVVMATLASAGQGAGHLQLHNAA
  VDWLSRCKKYLSQKNVVEKLNANVMHGKHVMILECTCHIMSYLADVTNALSQSNGQGPSH
  LSVDGEERAIEVDSDWVEELAVEEEDSQAEDSDEDSLCNKLCTFTITQKEFMNQHWYHCH
  TCKMVDGVGVCTVCAKVCHKDHEISYAKYGSFFCDCGAKEDGSCLALVKRTPSSGMSSTM
  KESAFQSEPRISESLVRHASTSSPADKAKVTISDGKVADEEKPKKSSLCRTVEGCREELQ
  NQANFSFAPLVLDMLNFLMDAIQTNFQQASAVGSSSRAQQALSELHTVEKAVEMTDQLMV
  PTLGSQEGAFENVRMNYSGDQGQTIRQLISAHVLRRVAMCVLSSPHGRRQHLAVSHEKGK
  ITVLQLSALLKQADSSKRKLTLTRLASAPVPFTVLSLTGNPCKEDYLAVCGLKDCHVLTF
  SSSGSVSDHLVLHPQLATGNFIIKAVWLPGSQTELAIVTADFVKIYDLCVDALSPTFYFL
  LPSSKIRDVTFLFNEEGKNIIVIMSSAGYIYTQLMEEASSAQQGPFYVTNVLEINHEDLK
  DSNSQVAGGGVSVYYSHVLQMLFFSYCQGKSFAATISRTTLEVLQLFPINIKSSNGGSKT
  SPALCQWSEVMNHPGLVCCVQQTTGVPLVVMVKPDTFLIQEIKTLPAKAKIQDMVAIRHT
  ACNEQQRTTMILLCEDGSLRIYMANVENTSYWLQPSLQPSSVISIMKPVRKRKTATITTR
  TSSQVTFPIDFFEHNQQLTDVEFGGNDLLQVYNAQQIKHRLNSTGMYVANTKPGGFTIEI
  SNNNSTMVMTGMRIQIGTQAIERAPSYIEIFGRTMQLNLSRSRWFDFPFTREEALQADKK
  LNLFIGASVDPAGVTMIDAVKIYGKTKEQFGWPDEPPEEFPSASVSNICPSNLNQSNGTG
  DSDSAAPTTTSGTVLERLVVSSLEALESCFAVGPIIEKERNKNAAQELATLLLSLPAPAS
  VQQQSKSLLASLHTSRSAYHSHKDQALLSKAVQCLNTSSKEGKDLDPEVFQRLVITARSI
  AIMRPNNLVHFTESKLPQMETEGMDEGKEPQKQLEGDCCSFITQLVNHFWKLHASKPKNA
  FLAPACLPGLTHIEATVNALVDIIHGYCTCELDCINTASKIYMQMLLCPDPAVSFSCKQA
  LIRVLRPRNKRRHVTLPSSPRSNTPMGDKDDDDDDDADEKMQSSGIPNGGHIRQESQEQS
  EVDHGDFEMVSESMVLETAENVNNGNPSPLEALLAGAEGFPPMLDIPPDADDETMVELAI
  ALSLQQDQQGSSSSALGLQSLGLSGQAPSSSSLDAGTLSDTTASAPASDDEGSTAATDGS
  TLRTSPADHGGSVGSESGGSAVDSVAGEHSVSGRSSAYGDATAEGHPAGPGSVSSSTGAI
  STTTGHQEGDGSEGEGEGETEGDVHTSNRLHMVRLMLLERLLQTLPQLRNVGGVRAIPYM
  QVILMLTTDLDGEDEKDKGALDNLLSQLIAELGMDKKDVSKKNERSALNEVHLVVMRLLS
  VFMSRTKSGSKSSICESSSLISSATAAALLSSGAVDYCLHVLKSLLEYWKSQQNDEEPVA
  TSQLLKPHTTSSPPDMSPFFLRQYVKGHAADVFEAYTQLLTEMVLRLPYQIKKITDTNSR
  IPPPVFDHSWFYFLSEYLMIQQTPFVRRQVRKLLLFICGSKEKYRQLRDLHTLDSHVRGI
  KKLLEEQGIFLRASVVTASSGSALQYDTLISLMEHLKACAEIAAQRTINWQKFCIKDDSV
  LYFLLQVSFLVDEGVSPVLLQLLSCALCGSKVLAALAASSGSSSASSSSAPVAASSGQAT
  TQSKSSTKKSKKEEKEKEKDGETSGSQEDQLCTALVNQLNKFADKETLIQFLRCFLLESN
  SSSVRWQAHCLTLHIYRNSSKSQQELLLDLMWSIWPELPAYGRKAAQFVDLLGYFSLKTP
  QTEKKLKEYSQKAVEILRTQNHILTNHPNSNIYNTLSGLVEFDGYYLESDPCLVCNNPEV
  PFCYIKLSSIKVDTRYTTTQQVVKLIGSHTISKVTVKIGDLKRTKMVRTINLYYNNRTVQ
  AIVELKNKPARWHKAKKVQLTPGQTEVKIDLPLPIVASNLMIEFADFYENYQASTETLQC
  PRCSASVPANPGVCGNCGENVYQCHKCRSINYDEKDPFLCNACGFCKYARFDFMLYAKPC
  CAVDPIENEEDRKKAVSNINTLLDKADRVYHQLMGHRPQLENLLCKVNEAAPEKPQDDSG
  TAGGISSTSASVNRYILQLAQEYCGDCKNSFDELSKIIQKVFASRKELLEYDLQQREAAT
  KSSRTSVQPTFTASQYRALSVLGCGHTSSTKCYGCASAVTEHCITLLRALATNPALRHIL
  VSQGLIRELFDYNLRRGAAAMREEVRQLMCLLTRDNPEATQQMNDLIIGKVSTALKGHWA
  NPDLASSLQYEMLLLTDSISKEDSCWELRLRCALSLFLMAVNIKTPVVVENITLMCLRIL
  QKLIKPPAPTSKKNKDVPVEALTTVKPYCNEIHAQAQLWLKRDPKASYDAWKKCLPIRGI
  DGNGKAPSKSELRHLYLTEKYVWRWKQFLSRRGKRTSPLDLKLGHNNWLRQVLFTPATQA
  ARQAACTIVEALATIPSRKQQVLDLLTSYLDELSIAGECAAEYLALYQKLITSAHWKVYL
  AARGVLPYVGNLITKEIARLLALEEATLSTDLQQGYALKSLTGLLSSFVEVESIKRHFKS
  RLVGTVLNGYLCLRKLVVQRTKLIDETQDMLLEMLEDMTTGTESETKAFMAVCIETAKRY
  NLDDYRTPVFIFERLCSIIYPEENEVTEFFVTLEKDPQQEDFLQGRMPGNPYSSNEPGIG
  PLMRDIKNKICQDCDLVALLEDDSGMELLVNNKIISLDLPVAEVYKKVWCTTNEGEPMRI
  VYRMRGLLGDATEEFIESLDSTTDEEEDEEEVYKMAGVMAQCGGLECMLNRLAGIRDFKQ
  GRHLLTVLLKLFSYCVKVKVNRQQLVKLEMNTLNVMLGTLNLALVAEQESKDSGGAAVAE
  QVLSIMEIILDESNAEPLSEDKGNLLLTGDKDQLVMLLDQINSTFVRSNPSVLQGLLRII
  PYLSFGEVEKMQILVERFKPYCNFDKYDEDHSGDDKVFLDCFCKIAAGIKNNSNGHQLKD
  LILQKGITQNALDYMKKHIPSAKNLDADIWKKFLSRPALPFILRLLRGLAIQHPGTQVLI
  GTDSIPNLHKLEQVSSDEGIGTLAENLLEALREHPDVNKKIDAARRETRAEKKRMAMAMR
  QKALGTLGMTTNEKGQVVTKTALLKQMEELIEEPGLTCCICREGYKFQPTKVLGIYTFTK
  RVALEEMENKPRKQQGYSTVSHFNIVHYDCHLAAVRLARGREEWESAALQNANTKCNGLL
  PVWGPHVPESAFATCLARHNTYLQECTGQREPTYQLNIHDIKLLFLRFAMEQSFSADTGG
  GGRESNIHLIPYIIHTVLYVLNTTRATSREEKNLQGFLEQPKEKWVESAFEVDGPYYFTV
  LALHILPPEQWRATRVEILRRLLVTSQARAVAPGGATRLTDKAVKDYSAYRSSLLFWALV
  DLIYNMFKKVPTSNTEGGWSCSLAEYIRHNDMPIYEAADKALKTFQEEFMPVETFSEFLD
  VAGLLSEITDPESFLKDLLNSVP

• Sequence length: 5183

Pathways

KEGG:

Human papillomavirus infection
Viral carcinogenesis

Reactome:

Neutrophil degranulation
Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Short stature	Likely pathogenic	rs747867083, rs748323629, rs144709443	RCV000736188 RCV000736138 RCV000736190	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC ATAXIA WITH SLURRED SPEECH	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely 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	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian insufficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UBR4-associated neurodevelopmental syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UBR4-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aneuploidy	Aneuploidy	Pubtator	36576405	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	36576405	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	31830949	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28600779		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	28600779	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	BEFREE	23982692, 29062094		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	GENOMICS_ENGLAND_DG	23982692		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	23982692, 29062094	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30809043	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	31830949		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	31830949	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25582440, 28600779		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	25582440, 28600779	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21347795		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	16247014	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	UNIPROT_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Presenile dementia	Senile Dementia	BEFREE	28600779		★☆☆☆☆ Found in Text Mining only
Specific language impairment	Specific Language Impairment	BEFREE	28630655		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21347795		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28100625	Associate	★☆☆☆☆ Found in Text Mining only