FBXO11 (F-box protein 11)

Gene

• Entrez ID: 80204
• Gene name: F-box protein 11
• Gene symbol: FBXO11
• Synonyms (NCBI Gene): FBX11, IDDFBA, PRMT9, UBR6, UG063H01, VIT1
• Chromosome: 2
• Chromosome location: 2p16.3
• 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
rs1553334863	TA>-	Pathogenic	Stop gained, coding sequence variant
rs1553334874	->A	Pathogenic	Stop gained, coding sequence variant
rs1553335247	A>G	Pathogenic	Coding sequence variant, missense variant
rs1553338592	T>C	Pathogenic	Coding sequence variant, missense variant
rs1553342101	->C	Pathogenic	Splice donor variant, coding sequence variant
rs1553342109	T>A	Pathogenic	Coding sequence variant, missense variant
rs1558414256	G>A	Pathogenic	Stop gained, coding sequence variant
rs1572753822	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572764698	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1572764737	C>G,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1572776344	A>T	Likely-pathogenic	Splice donor variant
rs1572785471	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1572806589	C>G	Likely-pathogenic	Splice acceptor variant
rs1572820988	G>C	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025191	hsa-miR-181a-5p	Sequencing	20371350
MIRT027332	hsa-miR-101-3p	Sequencing	20371350
MIRT030357	hsa-miR-26b-5p	Sequencing	20371350
MIRT031059	hsa-miR-21-5p	Microarray	18591254
MIRT039392	hsa-miR-421	CLASH	23622248
MIRT448858	hsa-miR-4453	PAR-CLIP	22100165
MIRT448857	hsa-miR-4538	PAR-CLIP	22100165
MIRT448856	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT025191	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727678	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727677	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727676	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT727675	hsa-miR-26a-5p	HITS-CLIP	22473208
MIRT030357	hsa-miR-26b-5p	HITS-CLIP	22473208
MIRT031059	hsa-miR-21-5p	Luciferase reporter assay	25589783
MIRT031059	hsa-miR-21-5p	Luciferase reporter assay	25589783
MIRT733114	hsa-miR-324-5p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blotting	31778188
MIRT733114	hsa-miR-324-5p	Luciferase reporter assay, Western blotting, qRT-PCR	33061453
MIRT448858	hsa-miR-4453	PAR-CLIP	22100165
MIRT448857	hsa-miR-4538	PAR-CLIP	22100165
MIRT448856	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT991216	hsa-miR-1207-5p	CLIP-seq
MIRT991217	hsa-miR-1252	CLIP-seq
MIRT991218	hsa-miR-1272	CLIP-seq
MIRT991219	hsa-miR-1286	CLIP-seq
MIRT991220	hsa-miR-1322	CLIP-seq
MIRT991221	hsa-miR-155	CLIP-seq
MIRT991222	hsa-miR-299-5p	CLIP-seq
MIRT991223	hsa-miR-3065-5p	CLIP-seq
MIRT991224	hsa-miR-3137	CLIP-seq
MIRT991225	hsa-miR-3202	CLIP-seq
MIRT991226	hsa-miR-3613-3p	CLIP-seq
MIRT991227	hsa-miR-3714	CLIP-seq
MIRT991228	hsa-miR-376a	CLIP-seq
MIRT991229	hsa-miR-376b	CLIP-seq
MIRT991230	hsa-miR-4484	CLIP-seq
MIRT991231	hsa-miR-4533	CLIP-seq
MIRT991232	hsa-miR-4722-5p	CLIP-seq
MIRT991233	hsa-miR-4736	CLIP-seq
MIRT991234	hsa-miR-4747-5p	CLIP-seq
MIRT991235	hsa-miR-4763-3p	CLIP-seq
MIRT991236	hsa-miR-4775	CLIP-seq
MIRT991237	hsa-miR-4778-3p	CLIP-seq
MIRT991238	hsa-miR-505	CLIP-seq
MIRT991239	hsa-miR-548an	CLIP-seq
MIRT991240	hsa-miR-548t	CLIP-seq
MIRT991241	hsa-miR-633	CLIP-seq
MIRT991242	hsa-miR-101	CLIP-seq
MIRT991243	hsa-miR-1200	CLIP-seq
MIRT991216	hsa-miR-1207-5p	CLIP-seq
MIRT991217	hsa-miR-1252	CLIP-seq
MIRT991244	hsa-miR-1264	CLIP-seq
MIRT991218	hsa-miR-1272	CLIP-seq
MIRT991245	hsa-miR-1297	CLIP-seq
MIRT991220	hsa-miR-1322	CLIP-seq
MIRT991246	hsa-miR-144	CLIP-seq
MIRT991247	hsa-miR-148a	CLIP-seq
MIRT991248	hsa-miR-148b	CLIP-seq
MIRT991249	hsa-miR-152	CLIP-seq
MIRT991221	hsa-miR-155	CLIP-seq
MIRT991250	hsa-miR-181a	CLIP-seq
MIRT991251	hsa-miR-181b	CLIP-seq
MIRT991252	hsa-miR-181c	CLIP-seq
MIRT991253	hsa-miR-181d	CLIP-seq
MIRT991254	hsa-miR-188-5p	CLIP-seq
MIRT991255	hsa-miR-23a	CLIP-seq
MIRT991256	hsa-miR-23b	CLIP-seq
MIRT991257	hsa-miR-23c	CLIP-seq
MIRT991258	hsa-miR-26a	CLIP-seq
MIRT991259	hsa-miR-26b	CLIP-seq
MIRT991260	hsa-miR-302a	CLIP-seq
MIRT991261	hsa-miR-302b	CLIP-seq
MIRT991262	hsa-miR-302c	CLIP-seq
MIRT991263	hsa-miR-302d	CLIP-seq
MIRT991264	hsa-miR-302e	CLIP-seq
MIRT991265	hsa-miR-3064-3p	CLIP-seq
MIRT991266	hsa-miR-3120-3p	CLIP-seq
MIRT991267	hsa-miR-3182	CLIP-seq
MIRT991225	hsa-miR-3202	CLIP-seq
MIRT991226	hsa-miR-3613-3p	CLIP-seq
MIRT991268	hsa-miR-3667-3p	CLIP-seq
MIRT991269	hsa-miR-3680	CLIP-seq
MIRT991270	hsa-miR-372	CLIP-seq
MIRT991271	hsa-miR-373	CLIP-seq
MIRT991228	hsa-miR-376a	CLIP-seq
MIRT991229	hsa-miR-376b	CLIP-seq
MIRT991272	hsa-miR-384	CLIP-seq
MIRT991273	hsa-miR-3941	CLIP-seq
MIRT991274	hsa-miR-4252	CLIP-seq
MIRT991275	hsa-miR-4262	CLIP-seq
MIRT991276	hsa-miR-4324	CLIP-seq
MIRT991277	hsa-miR-4465	CLIP-seq
MIRT991278	hsa-miR-4476	CLIP-seq
MIRT991231	hsa-miR-4533	CLIP-seq
MIRT991279	hsa-miR-466	CLIP-seq
MIRT991280	hsa-miR-4672	CLIP-seq
MIRT991281	hsa-miR-4715-3p	CLIP-seq
MIRT991233	hsa-miR-4736	CLIP-seq
MIRT991234	hsa-miR-4747-5p	CLIP-seq
MIRT991235	hsa-miR-4763-3p	CLIP-seq
MIRT991237	hsa-miR-4778-3p	CLIP-seq
MIRT991282	hsa-miR-495	CLIP-seq
MIRT991238	hsa-miR-505	CLIP-seq
MIRT991283	hsa-miR-520a-3p	CLIP-seq
MIRT991284	hsa-miR-520b	CLIP-seq
MIRT991285	hsa-miR-520c-3p	CLIP-seq
MIRT991286	hsa-miR-520d-3p	CLIP-seq
MIRT991287	hsa-miR-520e	CLIP-seq
MIRT991288	hsa-miR-544b	CLIP-seq
MIRT991240	hsa-miR-548t	CLIP-seq
MIRT991289	hsa-miR-582-5p	CLIP-seq
MIRT991290	hsa-miR-621	CLIP-seq
MIRT991241	hsa-miR-633	CLIP-seq
MIRT991291	hsa-miR-935	CLIP-seq
MIRT991243	hsa-miR-1200	CLIP-seq
MIRT991244	hsa-miR-1264	CLIP-seq
MIRT1993971	hsa-miR-1275	CLIP-seq
MIRT991245	hsa-miR-1297	CLIP-seq
MIRT1993972	hsa-miR-1302	CLIP-seq
MIRT991221	hsa-miR-155	CLIP-seq
MIRT1993973	hsa-miR-1911	CLIP-seq
MIRT1993974	hsa-miR-21	CLIP-seq
MIRT991258	hsa-miR-26a	CLIP-seq
MIRT991259	hsa-miR-26b	CLIP-seq
MIRT991266	hsa-miR-3120-3p	CLIP-seq
MIRT1993975	hsa-miR-3158-3p	CLIP-seq
MIRT991267	hsa-miR-3182	CLIP-seq
MIRT1993976	hsa-miR-323b-3p	CLIP-seq
MIRT991226	hsa-miR-3613-3p	CLIP-seq
MIRT991228	hsa-miR-376a	CLIP-seq
MIRT991229	hsa-miR-376b	CLIP-seq
MIRT991273	hsa-miR-3941	CLIP-seq
MIRT1993977	hsa-miR-412	CLIP-seq
MIRT1993978	hsa-miR-4298	CLIP-seq
MIRT991276	hsa-miR-4324	CLIP-seq
MIRT1993979	hsa-miR-4446-3p	CLIP-seq
MIRT991277	hsa-miR-4465	CLIP-seq
MIRT1993980	hsa-miR-4525	CLIP-seq
MIRT1993981	hsa-miR-4643	CLIP-seq
MIRT1993982	hsa-miR-4659a-3p	CLIP-seq
MIRT1993983	hsa-miR-4659b-3p	CLIP-seq
MIRT991279	hsa-miR-466	CLIP-seq
MIRT1993984	hsa-miR-4665-5p	CLIP-seq
MIRT991280	hsa-miR-4672	CLIP-seq
MIRT1993985	hsa-miR-4675	CLIP-seq
MIRT1993986	hsa-miR-4694-3p	CLIP-seq
MIRT1993987	hsa-miR-4723-5p	CLIP-seq
MIRT1993988	hsa-miR-4741	CLIP-seq
MIRT991237	hsa-miR-4778-3p	CLIP-seq
MIRT1993989	hsa-miR-4789-3p	CLIP-seq
MIRT1993990	hsa-miR-522	CLIP-seq
MIRT991288	hsa-miR-544b	CLIP-seq
MIRT991240	hsa-miR-548t	CLIP-seq
MIRT991289	hsa-miR-582-5p	CLIP-seq
MIRT1993991	hsa-miR-590-5p	CLIP-seq
MIRT1993992	hsa-miR-625	CLIP-seq
MIRT991291	hsa-miR-935	CLIP-seq
MIRT991245	hsa-miR-1297	CLIP-seq
MIRT991258	hsa-miR-26a	CLIP-seq
MIRT991259	hsa-miR-26b	CLIP-seq
MIRT991277	hsa-miR-4465	CLIP-seq
MIRT991244	hsa-miR-1264	CLIP-seq
MIRT991245	hsa-miR-1297	CLIP-seq
MIRT991258	hsa-miR-26a	CLIP-seq
MIRT991259	hsa-miR-26b	CLIP-seq
MIRT2227970	hsa-miR-338-5p	CLIP-seq
MIRT991277	hsa-miR-4465	CLIP-seq
MIRT2227971	hsa-miR-4477a	CLIP-seq
MIRT2227972	hsa-miR-4777-5p	CLIP-seq
MIRT2227973	hsa-miR-576-3p	CLIP-seq
MIRT2227974	hsa-miR-584	CLIP-seq
MIRT991241	hsa-miR-633	CLIP-seq
MIRT2227975	hsa-miR-656	CLIP-seq
MIRT991242	hsa-miR-101	CLIP-seq
MIRT1993971	hsa-miR-1275	CLIP-seq
MIRT2531499	hsa-miR-1279	CLIP-seq
MIRT991219	hsa-miR-1286	CLIP-seq
MIRT991245	hsa-miR-1297	CLIP-seq
MIRT1993972	hsa-miR-1302	CLIP-seq
MIRT991246	hsa-miR-144	CLIP-seq
MIRT991221	hsa-miR-155	CLIP-seq
MIRT991250	hsa-miR-181a	CLIP-seq
MIRT991251	hsa-miR-181b	CLIP-seq
MIRT991252	hsa-miR-181c	CLIP-seq
MIRT991253	hsa-miR-181d	CLIP-seq
MIRT1993973	hsa-miR-1911	CLIP-seq
MIRT991258	hsa-miR-26a	CLIP-seq
MIRT991259	hsa-miR-26b	CLIP-seq
MIRT991222	hsa-miR-299-5p	CLIP-seq
MIRT991266	hsa-miR-3120-3p	CLIP-seq
MIRT1993975	hsa-miR-3158-3p	CLIP-seq
MIRT2531500	hsa-miR-3180-5p	CLIP-seq
MIRT1993976	hsa-miR-323b-3p	CLIP-seq
MIRT2531501	hsa-miR-338-3p	CLIP-seq
MIRT991275	hsa-miR-4262	CLIP-seq
MIRT1993978	hsa-miR-4298	CLIP-seq
MIRT2531502	hsa-miR-4328	CLIP-seq
MIRT2531503	hsa-miR-4427	CLIP-seq
MIRT1993979	hsa-miR-4446-3p	CLIP-seq
MIRT991277	hsa-miR-4465	CLIP-seq
MIRT1993980	hsa-miR-4525	CLIP-seq
MIRT2531504	hsa-miR-4530	CLIP-seq
MIRT1993981	hsa-miR-4643	CLIP-seq
MIRT991279	hsa-miR-466	CLIP-seq
MIRT1993984	hsa-miR-4665-5p	CLIP-seq
MIRT2531505	hsa-miR-4668-3p	CLIP-seq
MIRT1993985	hsa-miR-4675	CLIP-seq
MIRT2531506	hsa-miR-4680-3p	CLIP-seq
MIRT1993986	hsa-miR-4694-3p	CLIP-seq
MIRT991232	hsa-miR-4722-5p	CLIP-seq
MIRT1993987	hsa-miR-4723-5p	CLIP-seq
MIRT2531507	hsa-miR-4738-3p	CLIP-seq
MIRT1993988	hsa-miR-4741	CLIP-seq
MIRT991236	hsa-miR-4775	CLIP-seq
MIRT1993989	hsa-miR-4789-3p	CLIP-seq
MIRT991282	hsa-miR-495	CLIP-seq
MIRT2531508	hsa-miR-513c	CLIP-seq
MIRT2531509	hsa-miR-514b-5p	CLIP-seq
MIRT1993990	hsa-miR-522	CLIP-seq
MIRT2531510	hsa-miR-548ae	CLIP-seq
MIRT2531511	hsa-miR-548aj	CLIP-seq
MIRT2531512	hsa-miR-548am	CLIP-seq
MIRT2531513	hsa-miR-548g	CLIP-seq
MIRT2531514	hsa-miR-548x	CLIP-seq
MIRT991289	hsa-miR-582-5p	CLIP-seq
MIRT1993992	hsa-miR-625	CLIP-seq
MIRT991291	hsa-miR-935	CLIP-seq
MIRT1993971	hsa-miR-1275	CLIP-seq
MIRT2531499	hsa-miR-1279	CLIP-seq
MIRT991219	hsa-miR-1286	CLIP-seq
MIRT991245	hsa-miR-1297	CLIP-seq
MIRT1993972	hsa-miR-1302	CLIP-seq
MIRT991221	hsa-miR-155	CLIP-seq
MIRT991250	hsa-miR-181a	CLIP-seq
MIRT991251	hsa-miR-181b	CLIP-seq
MIRT991252	hsa-miR-181c	CLIP-seq
MIRT991253	hsa-miR-181d	CLIP-seq
MIRT1993973	hsa-miR-1911	CLIP-seq
MIRT991258	hsa-miR-26a	CLIP-seq
MIRT991259	hsa-miR-26b	CLIP-seq
MIRT991222	hsa-miR-299-5p	CLIP-seq
MIRT991266	hsa-miR-3120-3p	CLIP-seq
MIRT1993975	hsa-miR-3158-3p	CLIP-seq
MIRT2531500	hsa-miR-3180-5p	CLIP-seq
MIRT1993976	hsa-miR-323b-3p	CLIP-seq
MIRT2531501	hsa-miR-338-3p	CLIP-seq
MIRT991275	hsa-miR-4262	CLIP-seq
MIRT1993978	hsa-miR-4298	CLIP-seq
MIRT2531502	hsa-miR-4328	CLIP-seq
MIRT2531503	hsa-miR-4427	CLIP-seq
MIRT1993979	hsa-miR-4446-3p	CLIP-seq
MIRT991277	hsa-miR-4465	CLIP-seq
MIRT1993980	hsa-miR-4525	CLIP-seq
MIRT2531504	hsa-miR-4530	CLIP-seq
MIRT1993981	hsa-miR-4643	CLIP-seq
MIRT991279	hsa-miR-466	CLIP-seq
MIRT1993984	hsa-miR-4665-5p	CLIP-seq
MIRT2531505	hsa-miR-4668-3p	CLIP-seq
MIRT1993985	hsa-miR-4675	CLIP-seq
MIRT2531506	hsa-miR-4680-3p	CLIP-seq
MIRT1993986	hsa-miR-4694-3p	CLIP-seq
MIRT991232	hsa-miR-4722-5p	CLIP-seq
MIRT1993987	hsa-miR-4723-5p	CLIP-seq
MIRT2531507	hsa-miR-4738-3p	CLIP-seq
MIRT1993988	hsa-miR-4741	CLIP-seq
MIRT991236	hsa-miR-4775	CLIP-seq
MIRT1993989	hsa-miR-4789-3p	CLIP-seq
MIRT991282	hsa-miR-495	CLIP-seq
MIRT2531508	hsa-miR-513c	CLIP-seq
MIRT2531509	hsa-miR-514b-5p	CLIP-seq
MIRT1993990	hsa-miR-522	CLIP-seq
MIRT2531513	hsa-miR-548g	CLIP-seq
MIRT991289	hsa-miR-582-5p	CLIP-seq
MIRT1993992	hsa-miR-625	CLIP-seq
MIRT991291	hsa-miR-935	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	NAS	10531035, 10531037
GO:0001837	Process	Epithelial to mesenchymal transition	IDA	16096638
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	NAS	10531035
GO:0005515	Function	Protein binding	IPI	17098746, 20596027, 22113614, 22632967, 25203322, 25416956, 27705803, 29892012, 31515488, 33961781
GO:0005634	Component	Nucleus	IDA	25827072
GO:0005634	Component	Nucleus	IDA	16487488
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	16487488
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	NAS	10531037
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	IDA	25827072
GO:0016274	Function	Protein-arginine N-methyltransferase activity	IDA	16487488
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	NAS	10531035
GO:0042981	Process	Regulation of apoptotic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	23453970
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	25827072
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	29059170
GO:0046872	Function	Metal ion binding	IEA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	25827072

Other IDs

• MIM: 607871
• HGNC: 13590
• e!Ensembl: ENSG00000138081

Protein

• UniProt ID: Q86XK2
• Protein name: F-box only protein 11 (Protein arginine N-methyltransferase 9) (Vitiligo-associated protein 1) (VIT-1)
• Protein function: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as DTL/CDT2, BCL6, SNAI1 and PRDM1/BLIMP1 (P
• PDB: 5VMD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12937	F-box-like	157 → 202	F-box-like	Domain
  PF13229	Beta_helix	329 → 495	Right handed beta helix region	Family
  PF13229	Beta_helix	387 → 535	Right handed beta helix region	Family
  PF13229	Beta_helix	481 → 635	Right handed beta helix region	Family
  PF13229	Beta_helix	583 → 714	Right handed beta helix region	Family
  PF13229	Beta_helix	664 → 823	Right handed beta helix region	Family
  PF02207	zf-UBR	834 → 901	Putative zinc finger in N-recognin (UBR box)	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 5 is expressed in keratinocytes, fibroblasts and melanocytes. {ECO:0000269|PubMed:11775060}.
• Sequence:

  MNSVRAANRRPRRVSRPRPVQQQQQQPPQQPPPQPPQQQPPQQQPPPPPQQQQQQQPPPP
  PPPPPPLPQERNNVGERDDDVPADMVAEESGPGAQNSPYQLRRKTLLPKRTACPTKNSME
  GASTSTTENFGHRAKRARVSGKSQDLSAAPAEQYLQEKLPDEVVLKIFSYLLEQDLCRAA
  CVCKRFSELANDPILWKRLYMEVFEYTRPMMHPEPGKFYQINPEEYEHPNPWKESFQQLY
  KGAHVKPGFAEHFYSNPARYKGRENMLYYDTIEDALGGVQEAHFDGLIFVHSGIYTDEWI
  YIESPITMIGAAPGKVADKVIIENTRDSTFVFMEGSEDAYVGYMTIRFNPDDKSAQHHNA
  HHCLEITVNCSPIIDHCIIRSTCTVGSAVCVSGQGACPTIKHCNISDCENVGLYITDHAQ
  GIYEDNEISNNALAGIWVKNHGNPIIRRNHIHHGRDVGVFTFDHGMGYFESCNIHRNRIA
  GFEVKAYANPTVVRCEIHHGQTGGIYVHEKGRGQFIENKIYANNFAGVWITSNSDPTIRG
  NSIFNGNQGGVYIFGDGRGLIEGNDIYGNALAGIQIRTNSCPIVRHNKIHDGQHGGIYVH
  EKGQGVIEENEVYSNTLAGVWVTTGSTPVLRRNRIHSGKQVGVYFYDNGHGVLEDNDIYN
  HMYSGVQIRTGSNPKIRRNKIWGGQNGGILVYNSGLGCIEDNEIFDNAMAGVWIKTDSNP
  TLRRNKIHDGRDGGICIFNGGRGLLEENDIFRNAQAGVLISTNSHPILRKNRIFDGFAAG
  IEITNHATATLEGNQIFNNRFGGLFLASGVNVTMKDNKIMNNQDAIEKAVSRGQCLYKIS
  SYTSYPMHDFYRCHTCNTTDRNAICVNCIKKCHQGHDVEFIRHDRFFCDCGAGTLSNPCT
  LAGEPTHDTDTLYDSAPPIESNTLQHN

• Sequence length: 927

Pathways

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
Delayed speech and language development	Likely pathogenic	rs1672530798	RCV001328479	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Likely pathogenic	rs2531057032	RCV003128063	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FBXO11-related disorder	Likely pathogenic	rs770336997, rs772573176, rs2531003311	RCV004752136 RCV003418928 RCV003399845	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic; Pathogenic	rs1553338592	RCV005901565	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	Likely pathogenic; Pathogenic	rs1672530798, rs1670528197, rs2104716435, rs2104716005, rs2104657995, rs2104632978, rs2104833077, rs2104731734, rs2104860646, rs2104731942, rs2104856413, rs2104860667, rs2104808289, rs2104856077, rs2104658407, rs2104702176, rs1670355281, rs2104613193, rs2104663816, rs2104613345, rs2104621655, rs2104856110, rs2104613365, rs2104703623, rs2104716081, rs2104739095, rs2104832921, rs2104663941, rs2104832291, rs2104702108, rs2104738808, rs2104626104, rs775765831, rs2104610531, rs1670805547, rs2104739162, rs1233367010, rs757821091, rs2104716065, rs2530936412, rs2530936585, rs2528154002, rs2530937941, rs2531091833, rs2530936224, rs2531003767, rs2104610803, rs2531100944, rs2530973212, rs1553338592, rs1553342109, rs1553334874, rs1553334863, rs1553342101, rs1572764737, rs1572806589, rs1572785471, rs1572753822, rs1572764698, rs1572776344, rs1670371887, rs1671184211, rs1670357007, rs1670806923, rs1672424005, rs1672291261, rs1671446124, rs2531101531, rs1230294673	RCV001799758 RCV001332987 RCV001800169 RCV001800170 RCV001800171 RCV001800172 RCV001800173 RCV001800174 RCV001800175 RCV001800176 RCV001800177 RCV001800178 RCV001800179 RCV001800180 RCV001800181 RCV001800182 RCV001800183 RCV001800268 RCV001800269 RCV001800270 RCV001800271 RCV001800272 RCV001800273 RCV001800274 RCV001800275 RCV001800276 RCV001800277 RCV001800279 RCV001800280 RCV001800281 RCV001800282 RCV001800283 RCV001800284 RCV001800285 RCV001800286 RCV001800287 RCV003493897 RCV002071036 RCV002226899 RCV002287588 RCV002291136 RCV002444406 RCV002467406 RCV002571626 RCV003128064 RCV003128295 RCV003324425 RCV003484588 RCV004560505 RCV000677377 RCV000677378 RCV000677380 RCV000677381 RCV000677382 RCV000791347 RCV004768713 RCV000851180 RCV000991219 RCV000995546 RCV001028025 RCV001175152 RCV001175154 RCV001252492 RCV001253105 RCV001254156 RCV001254157 RCV001262525 RCV001799755 RCV001270372 RCV001528154	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs1671446564	RCV001312192	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic	rs1572806589	RCV000850469	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2104808169, rs1553338592, rs1553342109, rs1553334874, rs1553334863, rs1572806589, rs1670355281, rs1672276134, rs1670356255, rs1670356870, rs1670358755, rs1670753929, rs1670754178, rs1671196392, rs1671197579, rs1672803381, rs1672806975	RCV001374992 RCV001291312 RCV001291313 RCV001291438 RCV001291439 RCV001291432 RCV001291319 RCV001291433 RCV001291318 RCV001291437 RCV001291317 RCV001291436 RCV001291435 RCV001291315 RCV001291434 RCV001291321 RCV001291314	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Obesity	Likely pathogenic	rs1572820988	RCV000787970	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of colon	Adenocarcinoma Of Colon	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	29725252		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	30679813	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	30679813	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	30679813, 31838722	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30414952		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25867061		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	34472720	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32657545	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31159774	Associate	★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	BEFREE	28970529		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	30057029	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	CLINVAR_DG	10348829, 10508506, 14974087, 1548301, 15483016, 18301448, 20028993, 20487569, 24362816		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5	Colorectal Cancer	CLINVAR_DG	10508506, 10537275, 12732731, 14520694, 14961575, 15236168, 16283884, 16418736, 16807412, 17453009, 18269114, 18301448, 18389388, 18566915, 18625694, 18809606, 19851887, 20028993, 20487569, 20587412, 21056691, 21155762, 21642682, 21836479, 22006311, 22495361, 22949379, 23047549, 23621914, 23733757, 24362816, 24440087, 24728189, 24763289, 25307252, 25559809, 25980754, 26440929, 26552419, 26681312, 26720728, 27273229, 27443514, 27601186, 28944238, 8063241, 9929971		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31159774		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30057029, 33811277, 34505148, 35726512	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	22113614, 27166359		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 1	Gaucher Disease	CLINVAR_DG	22493294		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	22876139	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINVAR_DG	10508506, 10537275, 10699937, 10938287, 11470537, 11479205, 11641390, 11807791, 11900875, 12732731, 14520694, 14961575, 14974087, 15098177, 15236168, 15483016, 15805151, 15837969, 15872200, 16010685, 16034045, 16203774, 16283884, 16418736, 16525781, 16807412, 16885385, 17117178, 17453009, 17557300, 18176851, 18269114, 18301448, 18307539, 18409202, 18415027, 18550572, 18566915, 18625694, 18809606, 19072991, 19459153, 19526325, 19659577, 19698169, 19851887, 19931546, 20007843, 20028993, 20045164, 20379851, 20487569, 20587412, 20591884, 20924129, 20937110, 21056691, 21081928, 21155762, 21247423, 21642682, 21671081, 21674763, 21836479, 21868491, 22006311, 22081473, 22102614, 22219001, 22250089, 22480969, 22658618, 22691310, 22810696, 22949379, 23047549, 23263490, 23621914, 23700467, 23733757, 23990280, 24068316, 24100870, 24278394, 24323032, 24362816, 24434690, 24440087, 24689082, 24728189, 24763289, 25110875, 25111426, 25117503, 25194673, 25255306, 25307252, 25318681, 25370038, 25525159, 25559809, 25617771, 25980754, 26023681, 26274037, 26318770, 26333163, 26374070, 26552419, 26633542, 26681312, 26787237, 26845104, 27064304, 27273229, 27329137, 27456091, 27498913, 27601186, 27696107, 28176205, 28195393, 28369758, 28449805, 28481244, 28502729, 28514183, 28528517, 28873162, 28874130, 28944238, 29212164, 29360161, 29922827, 30013564, 30128536, 9307272, 9774676, 9819445, 9929971		★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	10508506, 10521294, 10537275, 10612827, 11807791, 12019211, 12376742, 12658575, 12732731, 14520694, 14961575, 14974087, 15098177, 15236168, 15483016, 15837969, 15872200, 15952900, 16034045, 16237223, 16283884, 16360201, 16418736, 16464007, 16525781, 16616355, 16807412, 16885385, 17117178, 17199584, 17323113, 17453009, 17531815, 17718861, 18269114, 18301448, 18389388, 18409202, 18566915, 18625694, 18809606, 19130300, 19324997, 19459153, 19698169, 19851887, 20007843, 20028993, 20379851, 20487569, 20587412, 2059188, 20591884, 20682701, 21039432, 21056691, 21155762, 21520333, 21642682, 21836479, 21868491, 22006311, 22081473, 22144684, 22250089, 22306203, 22495361, 22734033, 22949379, 23047549, 23263490, 23554159, 23621914, 23652311, 23729658, 23733757, 23990280, 24100870, 24323032, 24362816, 24440087, 24689082, 24728189, 24763289, 24933100, 25093288, 25110875, 25117503, 25142776, 25186627, 25430799, 25559809, 25617771, 25782445, 25980754, 26023681, 26200421, 26270727, 26318770, 26436112, 26437257, 26440929, 26483394, 26485756, 26544533, 26552419, 26681312, 26687385, 26787237, 26845104, 27064304, 27443514, 27456091, 27601186, 27616075, 27696107, 27978560, 28195393, 28369758, 28514183, 28531214, 28944238, 9307272, 9774676, 9929971		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	33811277	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	22113614		★☆☆☆☆ Found in Text Mining only
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES	Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	GENOMICS_ENGLAND_DG	17035249, 28097321, 29796876		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES	Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	UNIPROT_DG	27620904, 29796876, 30057029		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES	Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	BEFREE	29796876, 30057029, 30679813		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	30057029, 30679813	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Neoplasms	Kidney neoplasm	Pubtator	31159774	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	33024076	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33024076	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29518611		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	31365872	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	27166359		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25867061		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29278851, 29725252, 31829474		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29278851, 31159774		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CLINVAR_DG	22949379, 23047549		★☆☆☆☆ Found in Text Mining only
Malignant tumor of small intestine	Small intestine cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19360327		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	29796876		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30057029	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	30679813		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	33024076	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30102338		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22113614, 23892434, 25589783, 28142295, 29518611, 31778188, 31829474		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10471527, 10508506, 10521294, 10537275, 10938287, 11479205, 11709755, 11807791, 12373605, 12376742, 12547705, 12732731, 14520694, 14961575, 14974087, 15098177, 15217520, 15236168, 15324697, 15354210, 15365995, 15483016, 15837969, 15872200, 16034045, 16203774, 16283884, 16360201, 16418736, 16525781, 16616355, 16736289, 16807412, 16813607, 16885385, 17117178, 17199584, 17312306, 17323113, 17453009, 17531815, 17653898, 17718861, 17909073, 18176851, 18269114, 18301448, 18307539, 18409202, 18415027, 18550572, 18566915, 18625694, 18790734, 18809606, 18951462, 19072991, 19194194, 19324997, 19459153, 19526325, 19575290, 19698169, 19723918, 19851887, 20007843, 20028993, 20379851, 20487569, 20587412, 20591884, 20924129, 21039432, 21056691, 21120944, 21155762, 21247423, 21431882, 21520333, 21642682, 21674763, 21836479, 21868491, 22006311, 22081473, 22102614, 22179786, 22219001, 22250089, 22277660, 22290698, 22306203, 22495361, 22581703, 22658618, 22734033, 22851212, 22949379, 22949387, 23047549, 23056405, 23263490, 23294250, 23541221, 23588873, 23612316, 23621914, 23733757, 23990280, 24040339, 24100870, 24244552, 24278394, 24323032, 24362816, 24434690, 24440087, 24506336, 24689082, 24728189, 24763289, 24933100, 25093288, 25117503, 25142776, 25255306, 25307252, 25318681, 25345868, 25370038, 25430799, 25525159, 25559809, 25617771, 25637381, 25648859, 25740784, 25782445, 25980754, 26023681, 26318770, 26333163, 26437257, 26440929, 26446363, 26483394, 26517685, 26552419, 26648449, 26666765, 26681312, 26687385, 26720728, 26787237, 26832770, 27013479, 27064304, 27153395, 27398995, 27443514, 27456091, 27601186, 27696107, 27723366, 27965287, 27978560, 28153049, 28176205, 28195393, 28283864, 28449805, 28460341, 28466842, 28481244, 28502729, 28514183, 28528517, 28531214, 28765196, 28874130, 28944238, 29212164, 29348823, 7604266, 8071216, 9307272, 9929971		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30057029		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	30057029	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteosarcoma	Osteosarcoma	BEFREE	31079326		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	LHGDN	16847180		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	21293382		★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	LHGDN	16847180		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	31159774		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	CLINVAR_DG	22949379, 23047549		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28403887	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	32768929	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31159774		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30057029	Associate	★☆☆☆☆ Found in Text Mining only
Small intestine carcinoma	Small Intestinal Carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29278851, 29725252, 31829474		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29725252, 32218690	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	11775060	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	19360327		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	19360327		★☆☆☆☆ Found in Text Mining only