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	9820
Gene name	Cullin 7
Gene symbol	CUL7
Synonyms (NCBI Gene)	3M1CUL-7KIAA0076dJ20C7.5
Chromosome	6
Chromosome location	6p21.1
Summary	The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding di

Show/Hide all (46)

SNP ID	Visualize variation	Clinical significance	Consequence
rs45574335	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs61752334	A>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs121918228	G>A,T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant
rs121918229	T>C,G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs138777262	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, downstream transcript variant
rs139243761	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs141211365	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs141692693	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs143128153	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs144880219	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, upstream transcript variant, genic upstream transcript variant
rs144926293	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs145572983	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs146227929	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs147326417	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs200040003	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs201135654	G>A	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs201406974	A>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained, synonymous variant
rs730880261	CA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs730880262	CA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs730880263	G>T	Pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant
rs730880301	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs746333044	G>A,T	Pathogenic	Coding sequence variant, upstream transcript variant, stop gained, genic upstream transcript variant, synonymous variant
rs748555538	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant, genic downstream transcript variant
rs749509661	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs760910667	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs786205581	C>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs786205651	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727644	CTCCGAGATCAGGGTGCCCATG>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant
rs864309521	C>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs886042376	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs886043872	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886044397	T>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1064792895	AG>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1064793092	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064795325	C>A,T	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant
rs1554135458	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554137913	G>-	Pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant
rs1554138553	AG>CAGGCA	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1554138577	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1561873941	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1561875767	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1561881909	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1561892336	C>T	Likely-pathogenic	Upstream transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1561898352	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1581930130	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1581962986	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017662	hsa-miR-335-5p	Microarray	18185580

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	24793695
GO:0000281	Process	Mitotic cytokinesis	IMP	24793695
GO:0001570	Process	Vasculogenesis	IEA
GO:0001570	Process	Vasculogenesis	ISS
GO:0001837	Process	Epithelial to mesenchymal transition	IDA	20139075
GO:0001890	Process	Placenta development	IDA	20139075
GO:0005515	Function	Protein binding	IPI	17298945, 21572988, 21778237, 22653443, 24793696, 25609649, 33961781, 34591612, 34591642, 35140242
GO:0005680	Component	Anaphase-promoting complex	NAS	12481031
GO:0005737	Component	Cytoplasm	IDA	24793695
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	21572988
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA	24793695
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006508	Process	Proteolysis	NAS	12481031
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	18498745
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	18498745
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0007030	Process	Golgi organization	ISS
GO:0007088	Process	Regulation of mitotic nuclear division	IEA
GO:0007088	Process	Regulation of mitotic nuclear division	IMP	24793695
GO:0008286	Process	Insulin receptor signaling pathway	IDA	38056462
GO:0016567	Process	Protein ubiquitination	IDA	18498745
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	TAS	20139075
GO:0031461	Component	Cullin-RING ubiquitin ligase complex	IEA
GO:0031467	Component	Cul7-RING ubiquitin ligase complex	IDA	18498745, 21572988, 24362026
GO:0031467	Component	Cul7-RING ubiquitin ligase complex	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IDA	18498745
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IDA	18498745
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	21572988
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050775	Process	Positive regulation of dendrite morphogenesis	IGI	21572988
GO:0050775	Process	Positive regulation of dendrite morphogenesis	ISS
GO:0160072	Function	Ubiquitin ligase complex scaffold activity	IDA	18498745
GO:1990393	Component	3M complex	IDA	24793695, 24793696

MIM	HGNC	e!Ensembl
609577	21024	ENSG00000044090

Q14999

Protein name

Cullin-7 (CUL-7)

Protein function

Core component of the 3M and Cul7-RING(FBXW8) complexes, which mediate the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:12481031, PubMed:12904573, PubMed:21572988, PubMed:21737058, PubMed:24793695, PubMed:3598

PDB

2JNG , 7Z8B

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11515	Cul7	360 → 434	Mouse development and cellular proliferation protein Cullin-7	Family
PF03256	ANAPC10	831 → 990	Anaphase-promoting complex, subunit 10 (APC10)	Family
PF00888	Cullin	945 → 1524	Cullin family	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in fetal kidney and adult skeletal muscle. Also abundant in fetal brain, as well as in adult pancreas, kidney, placenta and heart. Detected in trophoblasts, lymphoblasts, osteoblasts, chondrocytes and skin fibroblasts.

Sequence

MVGELRYREFRVPLGPGLHAYPDELIRQRVGHDGHPEYQIRWLILRRGDEGDGGSGQVDC
KAEHILLWMSKDEIYANCHKMLGEDGQVIGPSQESAGEVGALDKSVLEEMETDVKSLIQR
ALRQLEECVGTIPPAPLLHTVHVLSAYASIEPLTGVFKDPRVLDLLMHMLSSPDYQIRWS
AGRMIQALSSHDAGTRTQILLSLSQQEAIEKHLDFDSRCALLALFAQATLSEHPMSFEGI
QLPQVPGRVLFSLVKRYLHVTSLLDQLNDSAAEPGAQNTSAPEELSGERGQLELEFSMAM
GTLISELVQAMRWDQASDRPRSSARSPGSIFQPQLADVSPGLPAAQAQPSFRRSRRFRPR
SEFASGNTYALYVRDTLQPGMRVRMLDDYEEISAGDEGEFRQSNNGVPPVQVFWESTGRT
YWVHWHMLEILGFEEDIEDMVEADEYQGAVASRVLGRALPAWRWRPMTELYAVPYVLPED
EDTEECEHLTLAEWWELLFFIKKLDGPDHQEVLQILQENLDGEILDDEILAELAVPIELA
QDLLLTLPQRLNDSALRDLINCHVYKKYGPEALAGNQAYPSLLEAQEDVLLLDAQAQAKD
SEDAAKVEAKEPPSQSPNTPLQRLVEGYGPAGKILLDLEQALSSEGTQENKVKPLLLQLQ
RQPQPFLALMQSLDTPETNRTLHLTVLRILKQLVDFPEALLLPWHEAVDACMACLRSPNT
DREVLQELIFFLHRLTSVSRDYAVVLNQLGARDAISKALEKHLGKLELAQELRDMVFKCE
KHAHLYRKLITNILGGCIQMVLGQIEDHRRTHQPINIPFFDVFLRYLCQGSSVEVKEDKC
WEKVEVSSNPHRASKLTDHNPKTYWESNGSAGSHYITLHMRRGILIRQLTLLVASEDSSY
MPARVVVCGGDSTSSLHTELNSVNVMPSASRVILLENLTRFWPIIQIRIKRCQQGGIDTR
IRGLEILGPKPTFWPVFREQLCRHTRLFYMVRAQAWSQDMAEDRRSLLHLSSRLNGALRQ
EQNFADRFLPDDEAAQALGKTCWEALVSPVVQNITSPDEDGISPLGWLLDQYLECQEAVF
NPQSRGPAFFSRVRRLTHLLVHVEPCEAPPPVVATPRPKGRNRSHDWSSLATRGLPSSIM
RNLTRCWRAVVEKQVNNFLTSSWRDDDFVPRYCEHFNILQNSSSELFGPRAAFLLALQNG
CAGALLKLPFLKAAHVSEQFARHIDQQIQGSRIGGAQEMERLAQLQQCLQAVLIFSGLEI
ATTFEHYYQHYMADRLLGVVSSWLEGAVLEQIGPCFPNRLPQQMLQSLSTSKELQRQFHV
YQLQQLDQELLKLEDTEKKIQVGLGASGKEHKSEKEEEAGAAAVVDVAEGEEEEEENEDL
YYEGAMPEVSVLVLSRHSWPVASICHTLNPRTCLPSYLRGTLNRYSNFYNKSQSHPALER
GSQRRLQWTWLGWAELQFGNQTLHVSTVQMWLLLYLNDLKAVSVESLLAFSGLSADMLNQ
AIGPLTSSRGPLDLHEQKDIPGGVLKIRDGSKEPRSRWDIVRLIPPQTYLQAEGEDGQNL
EKRRNLLNCLIVRILKAHGDEGLHIDQLVCLVLEAWQKGPCPPRGLVSSLGKGSACSSTD
VLSCILHLLGKGTLRRHDDRPQVLSYAVPVTVMEPHTESLNPGSSGPNPPLTFHTLQIRS
RGVPYASCTATQSFSTFR

Sequence length

1698

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis		XBP1(S) activates chaperone genes Neddylation Antigen processing: Ubiquitination & Proteasome degradation

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3-M syndrome	Pathogenic; Likely pathogenic	rs758737233, rs121918229, rs1340929933, rs61752334, rs1173494063, rs748555538, rs2532602526, rs1359152024, rs1064792895, rs1554138553, rs760910667, rs759300846	RCV004766575 RCV002281688 RCV002238638 RCV002509281 RCV002510277 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
3M syndrome 1	Pathogenic; Likely pathogenic	rs2150304168, rs2150328634, rs1473516947, rs201406974, rs201137899, rs121918228, rs121918229, rs730880261, rs730880262, rs730880263, rs2150317151, rs2150320060, rs2150321832, rs377169342, rs1763636120 View all (29 more)	RCV001644998 RCV001667871 RCV004596030 RCV000115042 RCV005032052 View all (39 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CUL7-related disorder	Pathogenic	rs730880261	RCV003390632	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Yakut short stature syndrome	Pathogenic	rs730880301	RCV000001683	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth delay	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; 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 tumor of esophagus	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILLER-MCKUSICK-MALVAUX-SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THREE M SYNDROME 1	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THREE M SYNDROME 3	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Uncertain significance	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 (56)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
3M syndrome	3M Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	25961944		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	25961944	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29207970	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	20139075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	34024335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36304472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29328363, 36304472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	17675530, 20139075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	23517720	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29393450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG	30980518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	17675530, 19225462, 20139075, 21737058, 22974575, 24711643, 24793695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	35563538	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22942238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	22942238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	CLINVAR_DG	30980518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29207970	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30807646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	22942238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)	3M Syndrome	BEFREE	16142236, 19225462, 19481195, 19877176, 21166787, 21396581, 21548126, 21737058, 22974575, 23517720, 26488604, 26850509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)	3M Syndrome	CLINVAR_DG	30980518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)	3M Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16140746, 29393450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17942889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17942889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34793589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24362026	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism	Pseudohypoparathyroidism	Pubtator	35563538	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG	30980518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	23517720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	37877343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Three M Syndrome 1	3M Syndrome	UNIPROT_DG	16142236, 17675530, 23018678		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Three M Syndrome 1	3M Syndrome	GENOMICS_ENGLAND_DG	17675530, 19225462		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Three M Syndrome 1	3M Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Three M Syndrome 1	3M Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	29207970	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

CUL7 (cullin 7)