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	4796
Gene name	Tonsoku like, DNA repair protein
Gene symbol	TONSL
Synonyms (NCBI Gene)	IKBRNFKBIL2SEMDSP
Chromosome	8
Chromosome location	8q24.3
Summary	The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with t

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1335783881	C>T	Uncertain-significance, pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1424148372	C>A,G	Pathogenic, uncertain-significance	Intron variant, splice acceptor variant
rs1586681982	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant

220

Show/Hide all (220)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049574	hsa-miR-92a-3p	CLASH	23622248
MIRT044557	hsa-miR-320a	CLASH	23622248
MIRT039762	hsa-miR-615-3p	CLASH	23622248
MIRT678203	hsa-miR-1203	HITS-CLIP	23824327
MIRT678201	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678202	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678200	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678199	hsa-miR-3199	HITS-CLIP	23824327
MIRT678198	hsa-miR-8052	HITS-CLIP	23824327
MIRT678197	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT678196	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT678203	hsa-miR-1203	HITS-CLIP	23824327
MIRT678201	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678202	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678200	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678199	hsa-miR-3199	HITS-CLIP	23824327
MIRT678198	hsa-miR-8052	HITS-CLIP	23824327
MIRT678197	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT678196	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT1447011	hsa-miR-1193	CLIP-seq
MIRT1447012	hsa-miR-122	CLIP-seq
MIRT1447013	hsa-miR-1281	CLIP-seq
MIRT1447014	hsa-miR-1307	CLIP-seq
MIRT1447015	hsa-miR-197	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447017	hsa-miR-2115	CLIP-seq
MIRT1447018	hsa-miR-2276	CLIP-seq
MIRT1447019	hsa-miR-2392	CLIP-seq
MIRT1447020	hsa-miR-3135b	CLIP-seq
MIRT1447021	hsa-miR-3652	CLIP-seq
MIRT1447022	hsa-miR-4278	CLIP-seq
MIRT1447023	hsa-miR-4279	CLIP-seq
MIRT1447024	hsa-miR-4284	CLIP-seq
MIRT1447025	hsa-miR-4430	CLIP-seq
MIRT1447026	hsa-miR-4454	CLIP-seq
MIRT1447027	hsa-miR-4466	CLIP-seq
MIRT1447028	hsa-miR-4530	CLIP-seq
MIRT1447029	hsa-miR-4532	CLIP-seq
MIRT1447030	hsa-miR-4638-5p	CLIP-seq
MIRT1447031	hsa-miR-4662a-5p	CLIP-seq
MIRT1447032	hsa-miR-4676-5p	CLIP-seq
MIRT1447033	hsa-miR-4688	CLIP-seq
MIRT1447034	hsa-miR-4707-3p	CLIP-seq
MIRT1447035	hsa-miR-4716-5p	CLIP-seq
MIRT1447036	hsa-miR-4729	CLIP-seq
MIRT1447037	hsa-miR-4735-5p	CLIP-seq
MIRT1447038	hsa-miR-4775	CLIP-seq
MIRT1447039	hsa-miR-5096	CLIP-seq
MIRT1447040	hsa-miR-575	CLIP-seq
MIRT1447041	hsa-miR-579	CLIP-seq
MIRT1447042	hsa-miR-590-3p	CLIP-seq
MIRT1447043	hsa-miR-646	CLIP-seq
MIRT1447044	hsa-miR-675	CLIP-seq
MIRT1447011	hsa-miR-1193	CLIP-seq
MIRT1447015	hsa-miR-197	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447019	hsa-miR-2392	CLIP-seq
MIRT1921750	hsa-miR-411	CLIP-seq
MIRT1447026	hsa-miR-4454	CLIP-seq
MIRT1447031	hsa-miR-4662a-5p	CLIP-seq
MIRT1447032	hsa-miR-4676-5p	CLIP-seq
MIRT1447034	hsa-miR-4707-3p	CLIP-seq
MIRT1447035	hsa-miR-4716-5p	CLIP-seq
MIRT1921751	hsa-miR-483-5p	CLIP-seq
MIRT1447039	hsa-miR-5096	CLIP-seq
MIRT1447040	hsa-miR-575	CLIP-seq
MIRT1447011	hsa-miR-1193	CLIP-seq
MIRT1447015	hsa-miR-197	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447019	hsa-miR-2392	CLIP-seq
MIRT1921750	hsa-miR-411	CLIP-seq
MIRT1447026	hsa-miR-4454	CLIP-seq
MIRT1447031	hsa-miR-4662a-5p	CLIP-seq
MIRT1447032	hsa-miR-4676-5p	CLIP-seq
MIRT1447034	hsa-miR-4707-3p	CLIP-seq
MIRT1447035	hsa-miR-4716-5p	CLIP-seq
MIRT1921751	hsa-miR-483-5p	CLIP-seq
MIRT1447039	hsa-miR-5096	CLIP-seq
MIRT1447040	hsa-miR-575	CLIP-seq
MIRT1447011	hsa-miR-1193	CLIP-seq
MIRT1447015	hsa-miR-197	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447019	hsa-miR-2392	CLIP-seq
MIRT1921750	hsa-miR-411	CLIP-seq
MIRT1447026	hsa-miR-4454	CLIP-seq
MIRT1447031	hsa-miR-4662a-5p	CLIP-seq
MIRT1447032	hsa-miR-4676-5p	CLIP-seq
MIRT1447034	hsa-miR-4707-3p	CLIP-seq
MIRT1447035	hsa-miR-4716-5p	CLIP-seq
MIRT1921751	hsa-miR-483-5p	CLIP-seq
MIRT1447039	hsa-miR-5096	CLIP-seq
MIRT1447040	hsa-miR-575	CLIP-seq
MIRT1447011	hsa-miR-1193	CLIP-seq
MIRT1447015	hsa-miR-197	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447019	hsa-miR-2392	CLIP-seq
MIRT1921750	hsa-miR-411	CLIP-seq
MIRT1447026	hsa-miR-4454	CLIP-seq
MIRT1447031	hsa-miR-4662a-5p	CLIP-seq
MIRT1447032	hsa-miR-4676-5p	CLIP-seq
MIRT1447034	hsa-miR-4707-3p	CLIP-seq
MIRT1447035	hsa-miR-4716-5p	CLIP-seq
MIRT1921751	hsa-miR-483-5p	CLIP-seq
MIRT1447039	hsa-miR-5096	CLIP-seq
MIRT1447040	hsa-miR-575	CLIP-seq
MIRT1447011	hsa-miR-1193	CLIP-seq
MIRT1447013	hsa-miR-1281	CLIP-seq
MIRT1447014	hsa-miR-1307	CLIP-seq
MIRT1447015	hsa-miR-197	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447018	hsa-miR-2276	CLIP-seq
MIRT1447019	hsa-miR-2392	CLIP-seq
MIRT1921750	hsa-miR-411	CLIP-seq
MIRT1447023	hsa-miR-4279	CLIP-seq
MIRT1447024	hsa-miR-4284	CLIP-seq
MIRT2133682	hsa-miR-4438	CLIP-seq
MIRT1447027	hsa-miR-4466	CLIP-seq
MIRT1447029	hsa-miR-4532	CLIP-seq
MIRT1447030	hsa-miR-4638-5p	CLIP-seq
MIRT1447031	hsa-miR-4662a-5p	CLIP-seq
MIRT1447032	hsa-miR-4676-5p	CLIP-seq
MIRT1447035	hsa-miR-4716-5p	CLIP-seq
MIRT1447037	hsa-miR-4735-5p	CLIP-seq
MIRT1447038	hsa-miR-4775	CLIP-seq
MIRT1921751	hsa-miR-483-5p	CLIP-seq
MIRT2133683	hsa-miR-5095	CLIP-seq
MIRT1447039	hsa-miR-5096	CLIP-seq
MIRT1447040	hsa-miR-575	CLIP-seq
MIRT1447042	hsa-miR-590-3p	CLIP-seq
MIRT1447044	hsa-miR-675	CLIP-seq
MIRT1447011	hsa-miR-1193	CLIP-seq
MIRT1447012	hsa-miR-122	CLIP-seq
MIRT1447014	hsa-miR-1307	CLIP-seq
MIRT1447015	hsa-miR-197	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447017	hsa-miR-2115	CLIP-seq
MIRT1447018	hsa-miR-2276	CLIP-seq
MIRT1447019	hsa-miR-2392	CLIP-seq
MIRT1447020	hsa-miR-3135b	CLIP-seq
MIRT1447021	hsa-miR-3652	CLIP-seq
MIRT1921750	hsa-miR-411	CLIP-seq
MIRT1447023	hsa-miR-4279	CLIP-seq
MIRT1447024	hsa-miR-4284	CLIP-seq
MIRT2354860	hsa-miR-4294	CLIP-seq
MIRT1447025	hsa-miR-4430	CLIP-seq
MIRT2133682	hsa-miR-4438	CLIP-seq
MIRT1447027	hsa-miR-4466	CLIP-seq
MIRT1447030	hsa-miR-4638-5p	CLIP-seq
MIRT1447031	hsa-miR-4662a-5p	CLIP-seq
MIRT1447032	hsa-miR-4676-5p	CLIP-seq
MIRT1447035	hsa-miR-4716-5p	CLIP-seq
MIRT1447037	hsa-miR-4735-5p	CLIP-seq
MIRT1447038	hsa-miR-4775	CLIP-seq
MIRT1921751	hsa-miR-483-5p	CLIP-seq
MIRT2133683	hsa-miR-5095	CLIP-seq
MIRT1447039	hsa-miR-5096	CLIP-seq
MIRT1447040	hsa-miR-575	CLIP-seq
MIRT1447042	hsa-miR-590-3p	CLIP-seq
MIRT1447044	hsa-miR-675	CLIP-seq
MIRT1447012	hsa-miR-122	CLIP-seq
MIRT1447013	hsa-miR-1281	CLIP-seq
MIRT1447014	hsa-miR-1307	CLIP-seq
MIRT1447018	hsa-miR-2276	CLIP-seq
MIRT1447020	hsa-miR-3135b	CLIP-seq
MIRT1447021	hsa-miR-3652	CLIP-seq
MIRT1447024	hsa-miR-4284	CLIP-seq
MIRT1447025	hsa-miR-4430	CLIP-seq
MIRT1447027	hsa-miR-4466	CLIP-seq
MIRT1447029	hsa-miR-4532	CLIP-seq
MIRT1447030	hsa-miR-4638-5p	CLIP-seq
MIRT1447044	hsa-miR-675	CLIP-seq
MIRT1447012	hsa-miR-122	CLIP-seq
MIRT1447013	hsa-miR-1281	CLIP-seq
MIRT1447014	hsa-miR-1307	CLIP-seq
MIRT1447018	hsa-miR-2276	CLIP-seq
MIRT1447020	hsa-miR-3135b	CLIP-seq
MIRT1447021	hsa-miR-3652	CLIP-seq
MIRT1447024	hsa-miR-4284	CLIP-seq
MIRT1447025	hsa-miR-4430	CLIP-seq
MIRT1447027	hsa-miR-4466	CLIP-seq
MIRT1447030	hsa-miR-4638-5p	CLIP-seq
MIRT1447044	hsa-miR-675	CLIP-seq
MIRT1447012	hsa-miR-122	CLIP-seq
MIRT1447013	hsa-miR-1281	CLIP-seq
MIRT1447014	hsa-miR-1307	CLIP-seq
MIRT2648609	hsa-miR-139-3p	CLIP-seq
MIRT1447016	hsa-miR-1976	CLIP-seq
MIRT1447017	hsa-miR-2115	CLIP-seq
MIRT1447018	hsa-miR-2276	CLIP-seq
MIRT1447020	hsa-miR-3135b	CLIP-seq
MIRT1447021	hsa-miR-3652	CLIP-seq
MIRT1447023	hsa-miR-4279	CLIP-seq
MIRT1447024	hsa-miR-4284	CLIP-seq
MIRT2354860	hsa-miR-4294	CLIP-seq
MIRT1447025	hsa-miR-4430	CLIP-seq
MIRT1447027	hsa-miR-4466	CLIP-seq
MIRT1447029	hsa-miR-4532	CLIP-seq
MIRT1447030	hsa-miR-4638-5p	CLIP-seq
MIRT1447037	hsa-miR-4735-5p	CLIP-seq
MIRT1447038	hsa-miR-4775	CLIP-seq
MIRT1447042	hsa-miR-590-3p	CLIP-seq
MIRT1447044	hsa-miR-675	CLIP-seq
MIRT1447012	hsa-miR-122	CLIP-seq
MIRT1447013	hsa-miR-1281	CLIP-seq
MIRT1447014	hsa-miR-1307	CLIP-seq
MIRT2648609	hsa-miR-139-3p	CLIP-seq
MIRT1447017	hsa-miR-2115	CLIP-seq
MIRT1447018	hsa-miR-2276	CLIP-seq
MIRT1447020	hsa-miR-3135b	CLIP-seq
MIRT1447021	hsa-miR-3652	CLIP-seq
MIRT1447024	hsa-miR-4284	CLIP-seq
MIRT2354860	hsa-miR-4294	CLIP-seq
MIRT1447025	hsa-miR-4430	CLIP-seq
MIRT1447027	hsa-miR-4466	CLIP-seq
MIRT1447029	hsa-miR-4532	CLIP-seq
MIRT1447030	hsa-miR-4638-5p	CLIP-seq
MIRT1447037	hsa-miR-4735-5p	CLIP-seq
MIRT1447038	hsa-miR-4775	CLIP-seq
MIRT1447042	hsa-miR-590-3p	CLIP-seq
MIRT1447044	hsa-miR-675	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	27338793, 27797818
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	21055983, 21055984, 21055985, 30773278
GO:0005515	Function	Protein binding	IPI	21055983, 21055984, 21055985, 21113133, 27797818
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005662	Component	DNA replication factor A complex	IDA	21055983
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	7738005
GO:0006281	Process	DNA repair	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0031297	Process	Replication fork processing	IBA
GO:0031297	Process	Replication fork processing	IDA	27338793, 29478807
GO:0031297	Process	Replication fork processing	IMP	21055983, 21055984, 21055985
GO:0035101	Component	FACT complex	IDA	21055983
GO:0035861	Component	Site of double-strand break	IDA	26527279, 27338793, 29478807
GO:0042393	Function	Histone binding	IDA	21055983, 21055984
GO:0042555	Component	MCM complex	IDA	21055983, 21055984
GO:0043596	Component	Nuclear replication fork	IBA
GO:0043596	Component	Nuclear replication fork	IDA	26527279, 29478807
GO:0043596	Component	Nuclear replication fork	IDA	21055983, 21055984
GO:0071168	Process	Protein localization to chromatin	IDA	27338793
GO:0140566	Function	Histone reader activity	IDA	26527279, 27338793, 29478807

MIM	HGNC	e!Ensembl
604546	7801	ENSG00000160949

Q96HA7

Protein name

Tonsoku-like protein (Inhibitor of kappa B-related protein) (I-kappa-B-related protein) (IkappaBR) (NF-kappa-B inhibitor-like protein 2) (Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2)

Protein function

Component of the MMS22L-TONSL complex, a complex that promotes homologous recombination-mediated repair of double-strand breaks (DSBs) at stalled or collapsed replication forks (PubMed:21055983, PubMed:21055984, PubMed:21055985, PubMed:21113133,

PDB

5JA4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13181	TPR_8	242 → 271	Tetratricopeptide repeat	Repeat
PF00023	Ank	528 → 560	Ankyrin repeat	Repeat
PF00023	Ank	561 → 591	Ankyrin repeat	Repeat
PF00023	Ank	597 → 629	Ankyrin repeat	Repeat
PF13516	LRR_6	1096 → 1119	Leucine Rich repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in heart, skeletal muscle and tracheal epithelial cells. {ECO:0000269|PubMed:7738005}.

Sequence

MSLERELRQLSKAKAKAQRAGQRREEAALCHQLGELLAGHGRYAEALEQHWQELQLRERA
DDPLGCAVAHRKIGERLAEMEDYPAALQHQHQYLELAHSLRNHTELQRAWATIGRTHLDI
YDHCQSRDALLQAQAAFEKSLAIVDEELEGTLAQGELNEMRTRLYLNLGLTFESLQQTAL
CNDYFRKSIFLAEQNHLYEDLFRARYNLGTIHWRAGQHSQAMRCLEGARECAHTMRKRFM
ESECCVVIAQVLQDLGDFLAAKRALKKAYRLGSQKPVQRAAICQNLQHVLAVVRLQQQLE
EAEGRDPQGAMVICEQLGDLFSKAGDFPRAAEAYQKQLRFAELLDRPGAERAIIHVSLAT
TLGDMKDHHGAVRHYEEELRLRSGNVLEEAKTWLNIALSREEAGDAYELLAPCFQKALSC
AQQAQRPQLQRQVLQHLHTVQLRLQPQEAPETETRLRELSVAEDEDEEEEAEEAAATAES
EALEAGEVELSEGEDDTDGLTPQLEEDEELQGHLGRRKGSKWNRRNDMGETLLHRACIEG
QLRRVQDLVRQGHPLNPRDYCGWTPLHEACNYGHLEIVRFLLDHGAAVDDPGGQGCEGIT
PLHDALNCGHFEVAELLLERGASVTLRTRKGLSPLETLQQWVKLYRRDLDLETRQKARAM
EMLLQAAASGQDPHSSQAFHTPSSLLFDPETSPPLSPCPEPPSNSTRLPEASQAHVRVSP
GQAAPAMARPRRSRHGPASSSSSSEGEDSAGPARPSQKRPRCSATAQRVAAWTPGPASNR
EAATASTSRAAYQAAIRGVGSAQSRLGPGPPRGHSKALAPQAALIPEEECLAGDWLELDM
PLTRSRRPRPRGTGDNRRPSSTSGSDSEESRPRARAKQVRLTCMQSCSAPVNAGPSSLAS
EPPGSPSTPRVSEPSGDSSAAGQPLGPAPPPPIRVRVQVQDHLFLIPVPHSSDTHSVAWL
AEQAAQRYYQTCGLLPRLTLRKEGALLAPQDLIPDVLQSNDEVLAEVTSWDLPPLTDRYR
RACQSLGQGEHQQVLQAVELQGLGLSFSACSLALDQAQLTPLLRALKLHTALRELRLAGN
RLGDKCVAELVAALGTMPSLALLDLSSNHLGPEGLRQLAMGLPGQATLQSLEELDLSMNP
LGDGCGQSLASLLHACPLLSTLRLQACGFGPSFFLSHQTALGSAFQDAEHLKTLSLSYNA
LGAPALARTLQSLPAGTLLHLELSSVAAGKGDSDLMEPVFRYLAKEGCALAHLTLSANHL
GDKAVRDLCRCLSLCPSLISLDLSANPEISCASLEELLSTLQKRPQGLSFLGLSGCAVQG
PLGLGLWDKIAAQLRELQLCSRRLCAEDRDALRQLQPSRPGPGECTLDHGSKLFFRRL

Sequence length

1378

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Skeletal dysplaisia with extra-skeletal manifestations	Likely pathogenic	rs1823455124	RCV001261726	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sponastrime dysplasia	Likely pathogenic; Pathogenic	rs761727821, rs372806119, rs568942029, rs2130847575, rs2130831990, rs782201765, rs2537499869, rs2537483665, rs755575416, rs769100855, rs1586681982, rs1586692058, rs1586687279, rs1341244760, rs782733226 View all (3 more)	RCV001783891 RCV001843995 RCV004699565 RCV002240145 RCV002238728 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TONSL-related disorder	Likely pathogenic; Pathogenic	rs568942029, rs2537508009, rs2537506917, rs1249246199, rs755575416	RCV003416628 RCV003395566 RCV003397697 RCV003400416 RCV003411741	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (18)

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.
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE	—	Disgenet, GenCC, HPO Disgenet, GenCC, HPO Disgenet, GenCC, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylometaphyseal dysplasia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	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

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37746664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30723051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30723051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36344807	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	30773277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	37298484	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30723051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30723051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31158361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Posterior subcapsular cataract	Capsular cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPONASTRIME dysplasia	Sponastrime Dysplasia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal dysplasia sponastrime type	Spondyloepimetaphyseal dysplasia	Pubtator	40122363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal dysplasia, sponastrime type	Spondyloenchondrodysplasia	BEFREE	30773277, 30773278		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal dysplasia, sponastrime type	Spondyloenchondrodysplasia	ORPHANET_DG	30773277, 30773278		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strudwick syndrome	Strudwick Syndrome	BEFREE	30773277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	37746664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TONSL (tonsoku like, DNA repair protein)