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: 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:0000086	Process	G2/M transition of mitotic cell cycle	IBA	21873635
GO:0000151	Component	Ubiquitin ligase complex	NAS	10531035
GO:0000209	Process	Protein polyubiquitination	TAS
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	17463251
GO:0004842	Function	Ubiquitin-protein transferase activity	NAS	10531035
GO:0005515	Function	Protein binding	IPI	17463251, 23503662, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	ISS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
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	IBA	21873635
GO:0019005	Component	SCF ubiquitin ligase complex	IDA	17463251
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA	17463251
GO:0031648	Process	Protein destabilization	ISS
GO:0042752	Process	Regulation of circadian rhythm	IMP	17463251
GO:0043153	Process	Entrainment of circadian clock by photoperiod	IBA	21873635
GO:0043153	Process	Entrainment of circadian clock by photoperiod	ISS
GO:0043687	Process	Post-translational protein modification	TAS
GO:0048511	Process	Rhythmic process	IEA
GO:0051726	Process	Regulation of cell cycle	IBA	21873635

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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	30481285
Neuronal ceroid lipofuscinosis	Neuronal Ceroid-Lipofuscinoses, CEROID LIPOFUSCINOSIS, NEURONAL, 5	rs118203975, rs118203976, rs118203977, rs267607235, rs140948465, rs1740291234, rs386833969, rs104894385, rs104894386, rs121908292, rs267606738, rs1555274312, rs119455953, rs119455954, rs119455955, rs56144125, rs119455956, rs28940573, rs119455957, rs119455958, rs104894064, rs28940569, rs104894060, rs137852883, rs1555468634, rs121434286, rs267606737, rs104894483, rs397515352, rs774543080, rs121908080, rs786205067, rs137852695, rs137852696, rs137852697, rs137852698, rs137852699, rs137852700, rs137852701, rs137852702, rs63749877, rs121912789, rs121912790, rs786205105, rs154774634, rs587776892, rs387907246, rs386833624, rs386833626, rs386833625, rs386833627, rs386833628, rs386833629, rs386833630, rs386833632, rs386833633, rs386833634, rs386833635, rs386833636, rs386833637, rs386833638, rs386833641, rs386833642, rs386833643, rs386833644, rs386833645, rs386833646, rs386833647, rs386833648, rs386833649, rs386833650, rs386833651, rs386833652, rs386833653, rs148412181, rs386833654, rs386833655, rs386833656, rs386833657, rs386833658, rs386833659, rs386833660, rs386833661, rs386833663, rs386833664, rs386833665, rs386833666, rs386833667, rs386833668, rs386833669, rs386833671, rs386833694, rs386833695, rs386833696, rs386833697, rs386833698, rs386833699, rs386833700, rs386833701, rs386833702, rs386833703, rs386833704, rs386833705, rs386833706, rs386833707, rs386833708, rs386833709, rs386833710, rs386833712, rs386833713, rs386833714, rs386833715, rs386833717, rs386833720, rs386833721, rs386833722, rs386833724, rs386833725, rs386833726, rs386833728, rs386833729, rs386833730, rs386833731, rs386833732, rs386833735, rs386833736, rs386833737, rs386833739, rs386833740, rs386833741, rs386833742, rs386833743, rs386833744, rs386833963, rs386833964, rs386833965, rs386833966, rs386833967, rs386833970, rs386833971, rs386833972, rs386833973, rs386833974, rs386833975, rs386833978, rs386833979, rs386833980, rs386833981, rs386833982, rs386833983, rs386834123, rs386834124, rs386834125, rs386834126, rs386834128, rs386834130, rs386834132, rs386834133, rs386834135, rs34238807, rs386834138, rs386834139, rs397514731, rs397514732, rs753084727, rs587778809, rs154774640, rs154774639, rs121908197, rs121908198, rs121908199, rs121908200, rs121908201, rs121908203, rs121908202, rs121908195, rs121908204, rs121908205, rs121908209, rs121908207, rs104895127, rs63750411, rs587779397, rs587780315, rs724159970, rs727502800, rs727502801, rs724159971, rs746645358, rs786204553, rs786204753, rs778232650, rs786204644, rs794727955, rs794729218, rs796052925, rs796052923, rs796052927, rs558274487, rs796052752, rs144495588, rs1554901472, rs750428882, rs796053439, rs763162812, rs756564767, rs202189057, rs759080581, rs746085696, rs546989392, rs143781303, rs796052356, rs796052351, rs796052335, rs797045136, rs797045137, rs765097897, rs864309505, rs869025274, rs869312751, rs1085307087, rs878853322, rs878853325, rs878853929, rs878855053, rs878855331, rs553522118, rs748710466, rs886041568, rs886041487, rs886041546, rs1057516575, rs1057516889, rs1057517401, rs1057516447, rs1057517049, rs1057517192, rs1057517368, rs1057517112, rs747204624, rs1057516867, rs1057516582, rs756267448, rs1057516579, rs1057516511, rs1057516264, rs1057516319, rs113019349, rs1057517313, rs1057516945, rs752164603, rs1057516366, rs1057516667, rs1057516814, rs780198002, rs1057517134, rs1057516390, rs764495616, rs750935331, rs1057516677, rs1057516267, rs771788391, rs1057517350, rs1057516335, rs1057517287, rs1057517215, rs1057516343, rs777625354, rs764051026, rs559155109, rs1064796787, rs139842473, rs1064794233, rs181995380, rs1064795153, rs752612332, rs1131691676, rs1131691539, rs1555438255, rs1555058286, rs1555274005, rs1555468632, rs200348035, rs1265044710, rs1439582451, rs751696703, rs761621368, rs143730802, rs1554901580, rs1554902052, rs1553950197, rs200319160, rs143657539, rs1554901523, rs1555274338, rs1555273604, rs1555273881, rs1216139602, rs762226836, rs1553167863, rs1553166135, rs1553166147, rs1553167430, rs1349528345, rs1553166499, rs1553166337, rs1553167415, rs1553167474, rs1553167479, rs1554451504, rs746397087, rs1554449028, rs759830733, rs1554449124, rs554042394, rs1554451484, rs1554448874, rs1554448924, rs1554449047, rs1554449136, rs1554901463, rs1184563885, rs1554902043, rs763961289, rs1407106889, rs1554901576, rs1554901731, rs1424116749, rs1554901784, rs1554902216, rs779615685, rs1554902085, rs764790770, rs1555274343, rs1555274369, rs1555273567, rs1555274365, rs1555273609, rs1555274344, rs1555274373, rs1555274387, rs1451777867, rs762902907, rs756522171, rs1555438212, rs1555438443, rs1555468374, rs1555469452, rs1555467473, rs1418997146, rs1555273882, rs1478660606, rs1555273992, rs1555274014, rs1555274337, rs142456044, rs1555469159, rs758921701, rs1555469089, rs1555469477, rs1554901898, rs1554902217, rs1564855860, rs1564854729, rs1460276679, rs1560776422, rs556661896, rs868732642, rs1564855725, rs1566219136, rs1381427322, rs1557714302, rs1593914689, rs1302326945, rs1570470281, rs1570476221, rs775699005, rs1578912362, rs750162094, rs759664259, rs1589947644, rs1012449574, rs1570467252, rs778875017, rs1578794927, rs1578912759, rs1314967038, rs1465284719, rs1595816465, rs1595816474, rs1596563048, rs1565311875, rs2046113301, rs1578889355, rs776253867, rs1649597261, rs1649901192, rs749315686, rs1801297484, rs764256845, rs1242337070, rs2034349431, rs1380684360, rs1648444864, rs1739594685, rs1736369601, rs1739482158, rs1471253353, rs2046243804, rs1845791308, rs1397197980, rs2046158549	20157158, 9662406, 12134079, 20052765, 24058541, 24038957, 20960652, 21990111, 19201763, 22532218, 11971870, 26342652, 23374165, 24038957, 22727047, 12134079, 24058541, 23374165, 26342652, 20157158, 18684116, 20052765, 22532218, 9662406, 10953198, 21990111, 23160995

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		22719873
Short clavicles	Congenital hypoplasia of clavicle
Dwarfism	Dwarfism		30481285
Dysarthria	Dysarthria
High palate	Byzanthine arch palate
Ptosis	Blepharoptosis, Ptosis	rs139920573
Strabismus	Strabismus