FBXL3 (F-box and leucine rich repeat protein 3)

Gene

• Entrez ID: 26224
• Gene name: F-box and leucine rich repeat protein 3
• Gene symbol: FBXL3
• Synonyms (NCBI Gene): FBL3, FBL3A, FBXL3A, IDDSFAS
• Chromosome: 13
• Chromosome location: 13q22.3
• Summary: This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), w

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs374431043	G>A,C,T	Pathogenic	Missense variant, 5 prime UTR variant, synonymous variant, stop gained, coding sequence variant
rs764008859	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1566225872	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019641	hsa-miR-340-5p	Sequencing	20371350
MIRT021110	hsa-miR-186-5p	Sequencing	20371350
MIRT028091	hsa-miR-93-5p	Sequencing	20371350
MIRT703633	hsa-miR-4797-5p	HITS-CLIP	23313552
MIRT703632	hsa-miR-5586-3p	HITS-CLIP	23313552
MIRT703631	hsa-miR-759	HITS-CLIP	23313552
MIRT703630	hsa-miR-221-5p	HITS-CLIP	23313552
MIRT703629	hsa-miR-8073	HITS-CLIP	23313552
MIRT703628	hsa-miR-3128	HITS-CLIP	23313552
MIRT703627	hsa-miR-873-3p	HITS-CLIP	23313552
MIRT703626	hsa-miR-196a-3p	HITS-CLIP	23313552
MIRT703625	hsa-miR-3672	HITS-CLIP	23313552
MIRT703624	hsa-miR-6864-3p	HITS-CLIP	23313552
MIRT114167	hsa-miR-4735-3p	PAR-CLIP	21572407
MIRT114158	hsa-miR-18a-5p	PAR-CLIP	21572407
MIRT114159	hsa-miR-18b-5p	PAR-CLIP	21572407
MIRT542969	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT542968	hsa-miR-1273e	PAR-CLIP	21572407
MIRT542967	hsa-miR-6885-3p	PAR-CLIP	21572407
MIRT507318	hsa-miR-493-5p	PAR-CLIP	23446348
MIRT114154	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT507315	hsa-miR-4760-3p	PAR-CLIP	23446348
MIRT507316	hsa-miR-4528	PAR-CLIP	23446348
MIRT507314	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT190091	hsa-let-7c-3p	PAR-CLIP	23446348
MIRT507313	hsa-let-7a-2-3p	PAR-CLIP	23446348
MIRT507312	hsa-let-7g-3p	PAR-CLIP	23446348
MIRT703633	hsa-miR-4797-5p	HITS-CLIP	23313552
MIRT703632	hsa-miR-5586-3p	HITS-CLIP	23313552
MIRT703631	hsa-miR-759	HITS-CLIP	23313552
MIRT703630	hsa-miR-221-5p	HITS-CLIP	23313552
MIRT703629	hsa-miR-8073	HITS-CLIP	23313552
MIRT703628	hsa-miR-3128	HITS-CLIP	23313552
MIRT703627	hsa-miR-873-3p	HITS-CLIP	23313552
MIRT703626	hsa-miR-196a-3p	HITS-CLIP	23313552
MIRT703625	hsa-miR-3672	HITS-CLIP	23313552
MIRT703624	hsa-miR-6864-3p	HITS-CLIP	23313552
MIRT114167	hsa-miR-4735-3p	PAR-CLIP	21572407
MIRT114158	hsa-miR-18a-5p	PAR-CLIP	21572407
MIRT114159	hsa-miR-18b-5p	PAR-CLIP	21572407
MIRT542969	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT542968	hsa-miR-1273e	PAR-CLIP	21572407
MIRT542967	hsa-miR-6885-3p	PAR-CLIP	21572407
MIRT507318	hsa-miR-493-5p	PAR-CLIP	23446348
MIRT114154	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT507315	hsa-miR-4760-3p	PAR-CLIP	23446348
MIRT507316	hsa-miR-4528	PAR-CLIP	23446348
MIRT507314	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT190091	hsa-let-7c-3p	PAR-CLIP	23446348
MIRT507313	hsa-let-7a-2-3p	PAR-CLIP	23446348
MIRT507312	hsa-let-7g-3p	PAR-CLIP	23446348
MIRT991043	hsa-miR-106a	CLIP-seq
MIRT991044	hsa-miR-106b	CLIP-seq
MIRT991045	hsa-miR-1323	CLIP-seq
MIRT991046	hsa-miR-142-5p	CLIP-seq
MIRT991047	hsa-miR-145	CLIP-seq
MIRT991048	hsa-miR-146a	CLIP-seq
MIRT991049	hsa-miR-146b-5p	CLIP-seq
MIRT991050	hsa-miR-151-3p	CLIP-seq
MIRT991051	hsa-miR-17	CLIP-seq
MIRT991052	hsa-miR-181a	CLIP-seq
MIRT991053	hsa-miR-181b	CLIP-seq
MIRT991054	hsa-miR-181c	CLIP-seq
MIRT991055	hsa-miR-181d	CLIP-seq
MIRT991056	hsa-miR-18a	CLIP-seq
MIRT991057	hsa-miR-18b	CLIP-seq
MIRT991058	hsa-miR-203	CLIP-seq
MIRT991059	hsa-miR-204	CLIP-seq
MIRT991060	hsa-miR-20a	CLIP-seq
MIRT991061	hsa-miR-20b	CLIP-seq
MIRT991062	hsa-miR-211	CLIP-seq
MIRT991063	hsa-miR-23a	CLIP-seq
MIRT991064	hsa-miR-23b	CLIP-seq
MIRT991065	hsa-miR-23c	CLIP-seq
MIRT991066	hsa-miR-3146	CLIP-seq
MIRT991067	hsa-miR-3158-5p	CLIP-seq
MIRT991068	hsa-miR-3166	CLIP-seq
MIRT991069	hsa-miR-3180-5p	CLIP-seq
MIRT991070	hsa-miR-340	CLIP-seq
MIRT991071	hsa-miR-3609	CLIP-seq
MIRT991072	hsa-miR-369-3p	CLIP-seq
MIRT991073	hsa-miR-374a	CLIP-seq
MIRT991074	hsa-miR-374b	CLIP-seq
MIRT991075	hsa-miR-374c	CLIP-seq
MIRT991076	hsa-miR-3907	CLIP-seq
MIRT991077	hsa-miR-3909	CLIP-seq
MIRT991078	hsa-miR-3942-5p	CLIP-seq
MIRT991079	hsa-miR-3973	CLIP-seq
MIRT991080	hsa-miR-3978	CLIP-seq
MIRT991081	hsa-miR-4262	CLIP-seq
MIRT991082	hsa-miR-4282	CLIP-seq
MIRT991083	hsa-miR-4287	CLIP-seq
MIRT991084	hsa-miR-4418	CLIP-seq
MIRT991085	hsa-miR-4420	CLIP-seq
MIRT991086	hsa-miR-4463	CLIP-seq
MIRT991087	hsa-miR-4499	CLIP-seq
MIRT991088	hsa-miR-4503	CLIP-seq
MIRT991089	hsa-miR-4504	CLIP-seq
MIRT991090	hsa-miR-4685-3p	CLIP-seq
MIRT991091	hsa-miR-4703-5p	CLIP-seq
MIRT991092	hsa-miR-4705	CLIP-seq
MIRT991093	hsa-miR-4719	CLIP-seq
MIRT991094	hsa-miR-4771	CLIP-seq
MIRT991095	hsa-miR-4796-3p	CLIP-seq
MIRT991096	hsa-miR-491-3p	CLIP-seq
MIRT991097	hsa-miR-509-3-5p	CLIP-seq
MIRT991098	hsa-miR-509-5p	CLIP-seq
MIRT991099	hsa-miR-519d	CLIP-seq
MIRT991100	hsa-miR-543	CLIP-seq
MIRT991101	hsa-miR-548a-3p	CLIP-seq
MIRT991102	hsa-miR-548a-5p	CLIP-seq
MIRT991103	hsa-miR-548ab	CLIP-seq
MIRT991104	hsa-miR-548ah	CLIP-seq
MIRT991105	hsa-miR-548ak	CLIP-seq
MIRT991106	hsa-miR-548b-5p	CLIP-seq
MIRT991107	hsa-miR-548c-5p	CLIP-seq
MIRT991108	hsa-miR-548d-5p	CLIP-seq
MIRT991109	hsa-miR-548e	CLIP-seq
MIRT991110	hsa-miR-548f	CLIP-seq
MIRT991111	hsa-miR-548h	CLIP-seq
MIRT991112	hsa-miR-548i	CLIP-seq
MIRT991113	hsa-miR-548j	CLIP-seq
MIRT991114	hsa-miR-548l	CLIP-seq
MIRT991115	hsa-miR-548n	CLIP-seq
MIRT991116	hsa-miR-548o	CLIP-seq
MIRT991117	hsa-miR-548w	CLIP-seq
MIRT991118	hsa-miR-548y	CLIP-seq
MIRT991119	hsa-miR-559	CLIP-seq
MIRT991120	hsa-miR-561	CLIP-seq
MIRT991121	hsa-miR-580	CLIP-seq
MIRT991122	hsa-miR-582-3p	CLIP-seq
MIRT991123	hsa-miR-586	CLIP-seq
MIRT991124	hsa-miR-589	CLIP-seq
MIRT991125	hsa-miR-655	CLIP-seq
MIRT991126	hsa-miR-664	CLIP-seq
MIRT991127	hsa-miR-93	CLIP-seq
MIRT991128	hsa-miR-944	CLIP-seq
MIRT991115	hsa-miR-548n	CLIP-seq
MIRT1993893	hsa-miR-1227	CLIP-seq
MIRT991050	hsa-miR-151-3p	CLIP-seq
MIRT991058	hsa-miR-203	CLIP-seq
MIRT1993894	hsa-miR-3064-3p	CLIP-seq
MIRT1993895	hsa-miR-3074-3p	CLIP-seq
MIRT1993896	hsa-miR-3120-3p	CLIP-seq
MIRT991071	hsa-miR-3609	CLIP-seq
MIRT1993897	hsa-miR-361-5p	CLIP-seq
MIRT1993898	hsa-miR-3653	CLIP-seq
MIRT1993899	hsa-miR-3658	CLIP-seq
MIRT991072	hsa-miR-369-3p	CLIP-seq
MIRT991073	hsa-miR-374a	CLIP-seq
MIRT991074	hsa-miR-374b	CLIP-seq
MIRT991075	hsa-miR-374c	CLIP-seq
MIRT991079	hsa-miR-3973	CLIP-seq
MIRT1993900	hsa-miR-411	CLIP-seq
MIRT991086	hsa-miR-4463	CLIP-seq
MIRT991087	hsa-miR-4499	CLIP-seq
MIRT1993901	hsa-miR-4655-5p	CLIP-seq
MIRT1993902	hsa-miR-513a-3p	CLIP-seq
MIRT1993903	hsa-miR-515-3p	CLIP-seq
MIRT1993904	hsa-miR-519e	CLIP-seq
MIRT1993905	hsa-miR-520g	CLIP-seq
MIRT1993906	hsa-miR-520h	CLIP-seq
MIRT1993907	hsa-miR-545	CLIP-seq
MIRT991101	hsa-miR-548a-3p	CLIP-seq
MIRT991104	hsa-miR-548ah	CLIP-seq
MIRT991109	hsa-miR-548e	CLIP-seq
MIRT991110	hsa-miR-548f	CLIP-seq
MIRT1993908	hsa-miR-578	CLIP-seq
MIRT1993909	hsa-miR-643	CLIP-seq
MIRT991125	hsa-miR-655	CLIP-seq
MIRT991128	hsa-miR-944	CLIP-seq
MIRT2227915	hsa-miR-1178	CLIP-seq
MIRT2227916	hsa-miR-1200	CLIP-seq
MIRT991045	hsa-miR-1323	CLIP-seq
MIRT991050	hsa-miR-151-3p	CLIP-seq
MIRT2227917	hsa-miR-193a-5p	CLIP-seq
MIRT2227918	hsa-miR-297	CLIP-seq
MIRT2227919	hsa-miR-3074-5p	CLIP-seq
MIRT1993896	hsa-miR-3120-3p	CLIP-seq
MIRT2227920	hsa-miR-3124-3p	CLIP-seq
MIRT2227921	hsa-miR-3136-5p	CLIP-seq
MIRT2227922	hsa-miR-3143	CLIP-seq
MIRT991071	hsa-miR-3609	CLIP-seq
MIRT2227923	hsa-miR-3662	CLIP-seq
MIRT2227924	hsa-miR-3667-5p	CLIP-seq
MIRT991072	hsa-miR-369-3p	CLIP-seq
MIRT2227925	hsa-miR-371-3p	CLIP-seq
MIRT2227926	hsa-miR-371-5p	CLIP-seq
MIRT2227927	hsa-miR-371b-3p	CLIP-seq
MIRT2227928	hsa-miR-371b-5p	CLIP-seq
MIRT991073	hsa-miR-374a	CLIP-seq
MIRT991074	hsa-miR-374b	CLIP-seq
MIRT991075	hsa-miR-374c	CLIP-seq
MIRT991079	hsa-miR-3973	CLIP-seq
MIRT2227929	hsa-miR-410	CLIP-seq
MIRT1993900	hsa-miR-411	CLIP-seq
MIRT2227930	hsa-miR-4324	CLIP-seq
MIRT2227931	hsa-miR-4422	CLIP-seq
MIRT2227932	hsa-miR-4439	CLIP-seq
MIRT991086	hsa-miR-4463	CLIP-seq
MIRT991087	hsa-miR-4499	CLIP-seq
MIRT991088	hsa-miR-4503	CLIP-seq
MIRT991089	hsa-miR-4504	CLIP-seq
MIRT2227933	hsa-miR-4513	CLIP-seq
MIRT2227934	hsa-miR-4659a-3p	CLIP-seq
MIRT2227935	hsa-miR-4659b-3p	CLIP-seq
MIRT2227936	hsa-miR-4661-5p	CLIP-seq
MIRT2227937	hsa-miR-4699-5p	CLIP-seq
MIRT2227938	hsa-miR-4777-5p	CLIP-seq
MIRT2227939	hsa-miR-4803	CLIP-seq
MIRT2227940	hsa-miR-513c	CLIP-seq
MIRT2227941	hsa-miR-514b-5p	CLIP-seq
MIRT1993903	hsa-miR-515-3p	CLIP-seq
MIRT1993904	hsa-miR-519e	CLIP-seq
MIRT1993905	hsa-miR-520g	CLIP-seq
MIRT1993906	hsa-miR-520h	CLIP-seq
MIRT2227942	hsa-miR-542-3p	CLIP-seq
MIRT2227943	hsa-miR-544b	CLIP-seq
MIRT1993907	hsa-miR-545	CLIP-seq
MIRT991101	hsa-miR-548a-3p	CLIP-seq
MIRT991104	hsa-miR-548ah	CLIP-seq
MIRT991109	hsa-miR-548e	CLIP-seq
MIRT991110	hsa-miR-548f	CLIP-seq
MIRT991114	hsa-miR-548l	CLIP-seq
MIRT991116	hsa-miR-548o	CLIP-seq
MIRT2227944	hsa-miR-567	CLIP-seq
MIRT2227945	hsa-miR-577	CLIP-seq
MIRT991125	hsa-miR-655	CLIP-seq
MIRT2227946	hsa-miR-892a	CLIP-seq
MIRT2227947	hsa-miR-942	CLIP-seq
MIRT991128	hsa-miR-944	CLIP-seq
MIRT2387914	hsa-miR-1228	CLIP-seq
MIRT991050	hsa-miR-151-3p	CLIP-seq
MIRT991059	hsa-miR-204	CLIP-seq
MIRT991062	hsa-miR-211	CLIP-seq
MIRT2387915	hsa-miR-224	CLIP-seq
MIRT991076	hsa-miR-3907	CLIP-seq
MIRT991083	hsa-miR-4287	CLIP-seq
MIRT991086	hsa-miR-4463	CLIP-seq
MIRT991087	hsa-miR-4499	CLIP-seq
MIRT991090	hsa-miR-4685-3p	CLIP-seq
MIRT991115	hsa-miR-548n	CLIP-seq
MIRT2387916	hsa-miR-548t	CLIP-seq
MIRT991043	hsa-miR-106a	CLIP-seq
MIRT991044	hsa-miR-106b	CLIP-seq
MIRT991046	hsa-miR-142-5p	CLIP-seq
MIRT991051	hsa-miR-17	CLIP-seq
MIRT991060	hsa-miR-20a	CLIP-seq
MIRT991061	hsa-miR-20b	CLIP-seq
MIRT991070	hsa-miR-340	CLIP-seq
MIRT991071	hsa-miR-3609	CLIP-seq
MIRT991079	hsa-miR-3973	CLIP-seq
MIRT991088	hsa-miR-4503	CLIP-seq
MIRT991089	hsa-miR-4504	CLIP-seq
MIRT991095	hsa-miR-4796-3p	CLIP-seq
MIRT991099	hsa-miR-519d	CLIP-seq
MIRT991104	hsa-miR-548ah	CLIP-seq
MIRT991114	hsa-miR-548l	CLIP-seq
MIRT991127	hsa-miR-93	CLIP-seq
MIRT2531370	hsa-miR-1243	CLIP-seq
MIRT2531371	hsa-miR-2053	CLIP-seq
MIRT2531372	hsa-miR-302f	CLIP-seq
MIRT2531373	hsa-miR-3129-3p	CLIP-seq
MIRT2531374	hsa-miR-3154	CLIP-seq
MIRT2531375	hsa-miR-3173-3p	CLIP-seq
MIRT2531376	hsa-miR-3654	CLIP-seq
MIRT2531377	hsa-miR-4261	CLIP-seq
MIRT2227934	hsa-miR-4659a-3p	CLIP-seq
MIRT2227935	hsa-miR-4659b-3p	CLIP-seq
MIRT2531378	hsa-miR-4699-3p	CLIP-seq
MIRT2531379	hsa-miR-4775	CLIP-seq
MIRT2227938	hsa-miR-4777-5p	CLIP-seq
MIRT2531380	hsa-miR-4779	CLIP-seq
MIRT2531381	hsa-miR-569	CLIP-seq
MIRT2227945	hsa-miR-577	CLIP-seq
MIRT1993908	hsa-miR-578	CLIP-seq
MIRT2531382	hsa-miR-590-3p	CLIP-seq
MIRT1993909	hsa-miR-643	CLIP-seq
MIRT2531383	hsa-miR-656	CLIP-seq
MIRT2531384	hsa-miR-875-3p	CLIP-seq
MIRT2227947	hsa-miR-942	CLIP-seq
MIRT2531370	hsa-miR-1243	CLIP-seq
MIRT2531371	hsa-miR-2053	CLIP-seq
MIRT2531372	hsa-miR-302f	CLIP-seq
MIRT2531373	hsa-miR-3129-3p	CLIP-seq
MIRT2531374	hsa-miR-3154	CLIP-seq
MIRT2531375	hsa-miR-3173-3p	CLIP-seq
MIRT2531376	hsa-miR-3654	CLIP-seq
MIRT2531377	hsa-miR-4261	CLIP-seq
MIRT2531378	hsa-miR-4699-3p	CLIP-seq
MIRT2531379	hsa-miR-4775	CLIP-seq
MIRT2227938	hsa-miR-4777-5p	CLIP-seq
MIRT2531380	hsa-miR-4779	CLIP-seq
MIRT2531381	hsa-miR-569	CLIP-seq
MIRT2227945	hsa-miR-577	CLIP-seq
MIRT1993908	hsa-miR-578	CLIP-seq
MIRT2531382	hsa-miR-590-3p	CLIP-seq
MIRT1993909	hsa-miR-643	CLIP-seq
MIRT2531383	hsa-miR-656	CLIP-seq
MIRT2531384	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	NAS	10531035
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	17463251
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	NAS	10531035
GO:0005515	Function	Protein binding	IPI	17463251, 23503662, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	ISS
GO:0016567	Process	Protein ubiquitination	NAS	10531035
GO:0016604	Component	Nuclear body	IDA
GO:0019005	Component	SCF ubiquitin ligase complex	IDA	17463251
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA	17463251
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0031648	Process	Protein destabilization	IEA
GO:0031648	Process	Protein destabilization	ISS
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	IMP	17463251
GO:0043153	Process	Entrainment of circadian clock by photoperiod	IBA
GO:0043153	Process	Entrainment of circadian clock by photoperiod	IEA
GO:0043153	Process	Entrainment of circadian clock by photoperiod	ISS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0048511	Process	Rhythmic process	IEA

Other IDs

• MIM: 605653
• HGNC: 13599
• e!Ensembl: ENSG00000005812

Protein

• UniProt ID: Q9UKT7
• Protein name: F-box/LRR-repeat protein 3 (F-box and leucine-rich repeat protein 3A) (F-box/LRR-repeat protein 3A)
• Protein function: Substrate-recognition component of the SCF(FBXL3) E3 ubiquitin ligase complex involved in circadian rhythm function. Plays a key role in the maintenance of both the speed and the robustness of the circadian clock oscillation (PubMed:17463251, Pu
• PDB: 4I6J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12937	F-box-like	41 → 81	F-box-like	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10531035}.
• Sequence:

  MKRGGRDSDRNSSEEGTAEKSKKLRTTNEHSQTCDWGNLLQDIILQVFKYLPLLDRAHAS
  QVCRNWNQVFHMPDLWRCFEFELNQPATSYLKATHPELIKQIIKRHSNHLQYVSFKVDSS
  KESAEAACDILSQLVNCSLKTLGLISTARPSFMDLPKSHFISALTVVFVNSKSLSSLKID
  DTPVDDPSLKVLVANNSDTLKLLKMSSCPHVSPAGILCVADQCHGLRELALNYHLLSDEL
  LLALSSEKHVRLEHLRIDVVSENPGQTHFHTIQKSSWDAFIRHSPKVNLVMYFFLYEEEF
  DPFFRYEIPATHLYFGRSVSKDVLGRVGMTCPRLVELVVCANGLRPLDEELIRIAERCKN
  LSAIGLGECEVSCSAFVEFVKMCGGRLSQLSIMEEVLIPDQKYSLEQIHWEVSKHLGRVW
  FPDMMPTW

• Sequence length: 428

Pathways

KEGG:

Circadian rhythm

Reactome:

Neddylation
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
Intellectual disability, short stature, facial anomalies, and joint dislocations	Pathogenic	rs2154035941, rs374431043, rs764008859, rs1566225872	RCV001806231 RCV000767371 RCV000767372 RCV000767373	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FBXL3-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, SHORT STATURE, FACIAL ANOMALIES, AND JOINT DISLOCATIONS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	22719873		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39193850	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
CEROID LIPOFUSCINOSIS, NEURONAL, 5	Neuronal ceroid lipofuscinosis	CLINVAR_DG	10953198, 12134079, 18684116, 20052765, 20157158, 21990111, 22532218, 22727047, 23160995, 23374165, 24038957, 24058541, 26342652, 9662406		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28749470		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21209843	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30481285	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	30481285		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	GENOMICS_ENGLAND_DG	30481285		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	30481285	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30481285		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30481285	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30481285		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30481285		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30481285	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27840026		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30594330		★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	CLINVAR_DG	11971870, 12134079, 19201763, 20052765, 20157158, 20960652, 21990111, 22532218, 23374165, 24038957, 24058541, 26342652, 9662406		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30594330		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only