FLNB (filamin B)

Gene

• Entrez ID: 2317
• Gene name: Filamin B
• Gene symbol: FLNB
• Synonyms (NCBI Gene): ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP
• Chromosome: 3
• Chromosome location: 3p14.3
• Summary: This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cyto

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937587	G>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs77934864	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs80356493	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs80356494	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs80356495	G>T	Pathogenic	Missense variant, coding sequence variant
rs80356496	C>G	Pathogenic	Missense variant, coding sequence variant
rs80356497	A>C	Pathogenic	Missense variant, coding sequence variant
rs80356498	GAC>-	Pathogenic	Inframe deletion, coding sequence variant
rs80356499	C>T	Pathogenic	Missense variant, coding sequence variant
rs80356500	G>T	Pathogenic	Missense variant, coding sequence variant
rs80356501	T>C	Pathogenic	Missense variant, coding sequence variant
rs80356502	G>T	Pathogenic	Missense variant, coding sequence variant
rs80356503	G>A	Pathogenic	Missense variant, coding sequence variant
rs80356504	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs80356505	G>A	Pathogenic	Missense variant, coding sequence variant
rs80356506	T>G	Pathogenic	Missense variant, coding sequence variant
rs80356507	C>G	Pathogenic	Missense variant, coding sequence variant
rs80356508	G>A	Pathogenic	Missense variant, coding sequence variant
rs80356509	G>A	Pathogenic	Missense variant, coding sequence variant
rs80356510	G>A	Pathogenic	Missense variant, coding sequence variant
rs80356511	T>G	Pathogenic	Missense variant, coding sequence variant
rs80356512	TAA>-	Pathogenic	Inframe deletion, coding sequence variant
rs80356513	G>A	Pathogenic	Missense variant, coding sequence variant
rs80356514	T>A	Pathogenic	Missense variant, coding sequence variant
rs80356515	C>T	Pathogenic	Missense variant, coding sequence variant
rs80356516	G>A	Pathogenic	Missense variant, coding sequence variant
rs80356517	C>T	Pathogenic	Stop gained, coding sequence variant
rs80356519	C>T	Pathogenic	Stop gained, coding sequence variant
rs80356520	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs80356521	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs121908894	C>T	Pathogenic	Missense variant, coding sequence variant
rs121908895	A>G	Pathogenic	Missense variant, coding sequence variant
rs121908896	T>C	Pathogenic	Missense variant, coding sequence variant
rs121908897	C>T	Pathogenic	Stop gained, coding sequence variant
rs121908898	G>T	Pathogenic	Stop gained, coding sequence variant
rs137885421	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs138220431	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs140018418	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140332932	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs140926445	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs141698427	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143566075	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs145910735	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs368472521	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs372726521	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs531970315	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs587777259	G>A	Pathogenic	Missense variant, coding sequence variant
rs746105983	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs794727854	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs868820857	C>T	Pathogenic	Missense variant, coding sequence variant
rs886043158	G>T	Pathogenic	Stop gained, coding sequence variant
rs1064796797	C>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1356745912	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1470699812	AGG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1553701033	GTGAAGCTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553703909	ATTG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1575457582	TGTAGGTGGTCT>-	Pathogenic	Splice acceptor variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020752	hsa-miR-155-5p	Proteomics	18668040
MIRT021361	hsa-miR-9-5p	Microarray	17612493
MIRT023750	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT051871	hsa-let-7c-5p	CLASH	23622248
MIRT049532	hsa-miR-92a-3p	CLASH	23622248
MIRT049532	hsa-miR-92a-3p	CLASH	23622248
MIRT042011	hsa-miR-484	CLASH	23622248
MIRT040586	hsa-miR-92b-3p	CLASH	23622248
MIRT440639	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440638	hsa-miR-485-3p	HITS-CLIP	24374217
MIRT440639	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440638	hsa-miR-485-3p	HITS-CLIP	24374217
MIRT998773	hsa-miR-3157-5p	CLIP-seq
MIRT998774	hsa-miR-3170	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT998777	hsa-miR-4323	CLIP-seq
MIRT998778	hsa-miR-4438	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT998781	hsa-miR-4690-3p	CLIP-seq
MIRT998782	hsa-miR-4740-5p	CLIP-seq
MIRT998783	hsa-miR-4758-3p	CLIP-seq
MIRT998784	hsa-miR-1193	CLIP-seq
MIRT998785	hsa-miR-129-5p	CLIP-seq
MIRT998786	hsa-miR-15a	CLIP-seq
MIRT998787	hsa-miR-15b	CLIP-seq
MIRT998788	hsa-miR-16	CLIP-seq
MIRT998789	hsa-miR-195	CLIP-seq
MIRT998790	hsa-miR-203	CLIP-seq
MIRT998791	hsa-miR-223	CLIP-seq
MIRT998792	hsa-miR-2276	CLIP-seq
MIRT998793	hsa-miR-23a	CLIP-seq
MIRT998794	hsa-miR-23b	CLIP-seq
MIRT998795	hsa-miR-23c	CLIP-seq
MIRT998796	hsa-miR-3135b	CLIP-seq
MIRT998797	hsa-miR-3137	CLIP-seq
MIRT998798	hsa-miR-3152-3p	CLIP-seq
MIRT998799	hsa-miR-3155	CLIP-seq
MIRT998800	hsa-miR-3155b	CLIP-seq
MIRT998801	hsa-miR-3179	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT998802	hsa-miR-3652	CLIP-seq
MIRT998803	hsa-miR-3686	CLIP-seq
MIRT998804	hsa-miR-424	CLIP-seq
MIRT998805	hsa-miR-4422	CLIP-seq
MIRT998806	hsa-miR-4430	CLIP-seq
MIRT998807	hsa-miR-4436b-5p	CLIP-seq
MIRT998808	hsa-miR-4446-3p	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT998809	hsa-miR-4492	CLIP-seq
MIRT998810	hsa-miR-4498	CLIP-seq
MIRT998811	hsa-miR-4509	CLIP-seq
MIRT998812	hsa-miR-4652-3p	CLIP-seq
MIRT998813	hsa-miR-4675	CLIP-seq
MIRT998814	hsa-miR-4687-3p	CLIP-seq
MIRT998815	hsa-miR-4696	CLIP-seq
MIRT998816	hsa-miR-4697-3p	CLIP-seq
MIRT998782	hsa-miR-4740-5p	CLIP-seq
MIRT998817	hsa-miR-4741	CLIP-seq
MIRT998818	hsa-miR-4759	CLIP-seq
MIRT998819	hsa-miR-4772-3p	CLIP-seq
MIRT998820	hsa-miR-497	CLIP-seq
MIRT998821	hsa-miR-544	CLIP-seq
MIRT998822	hsa-miR-545	CLIP-seq
MIRT998823	hsa-miR-548aa	CLIP-seq
MIRT998824	hsa-miR-548ac	CLIP-seq
MIRT998825	hsa-miR-548ae	CLIP-seq
MIRT998826	hsa-miR-548aj	CLIP-seq
MIRT998827	hsa-miR-548am	CLIP-seq
MIRT998828	hsa-miR-548d-3p	CLIP-seq
MIRT998829	hsa-miR-548m	CLIP-seq
MIRT998830	hsa-miR-548p	CLIP-seq
MIRT998831	hsa-miR-548x	CLIP-seq
MIRT998832	hsa-miR-548z	CLIP-seq
MIRT998833	hsa-miR-622	CLIP-seq
MIRT998834	hsa-miR-7	CLIP-seq
MIRT998835	hsa-miR-762	CLIP-seq
MIRT998836	hsa-miR-1255a	CLIP-seq
MIRT998837	hsa-miR-1255b	CLIP-seq
MIRT998838	hsa-miR-184	CLIP-seq
MIRT998839	hsa-miR-3189-3p	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT998840	hsa-miR-3616-3p	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT998841	hsa-miR-450b-3p	CLIP-seq
MIRT998842	hsa-miR-4721	CLIP-seq
MIRT998782	hsa-miR-4740-5p	CLIP-seq
MIRT998843	hsa-miR-769-3p	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT998782	hsa-miR-4740-5p	CLIP-seq
MIRT1995966	hsa-miR-122	CLIP-seq
MIRT998785	hsa-miR-129-5p	CLIP-seq
MIRT1995967	hsa-miR-145	CLIP-seq
MIRT998790	hsa-miR-203	CLIP-seq
MIRT998791	hsa-miR-223	CLIP-seq
MIRT1995968	hsa-miR-3117-5p	CLIP-seq
MIRT1995969	hsa-miR-3150a-5p	CLIP-seq
MIRT1995970	hsa-miR-3150b-5p	CLIP-seq
MIRT1995971	hsa-miR-3180	CLIP-seq
MIRT1995972	hsa-miR-3180-3p	CLIP-seq
MIRT1995973	hsa-miR-3196	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT1995974	hsa-miR-361-3p	CLIP-seq
MIRT998802	hsa-miR-3652	CLIP-seq
MIRT1995975	hsa-miR-3656	CLIP-seq
MIRT1995976	hsa-miR-3659	CLIP-seq
MIRT1995977	hsa-miR-3911	CLIP-seq
MIRT1995978	hsa-miR-4328	CLIP-seq
MIRT998806	hsa-miR-4430	CLIP-seq
MIRT1995979	hsa-miR-4455	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT1995980	hsa-miR-4505	CLIP-seq
MIRT1995981	hsa-miR-4666-3p	CLIP-seq
MIRT1995982	hsa-miR-4670-3p	CLIP-seq
MIRT1995983	hsa-miR-4676-5p	CLIP-seq
MIRT998816	hsa-miR-4697-3p	CLIP-seq
MIRT1995984	hsa-miR-4715-5p	CLIP-seq
MIRT1995985	hsa-miR-4731-5p	CLIP-seq
MIRT998782	hsa-miR-4740-5p	CLIP-seq
MIRT1995986	hsa-miR-4768-5p	CLIP-seq
MIRT1995987	hsa-miR-510	CLIP-seq
MIRT1995988	hsa-miR-512-5p	CLIP-seq
MIRT1995989	hsa-miR-575	CLIP-seq
MIRT1995990	hsa-miR-582-5p	CLIP-seq
MIRT998833	hsa-miR-622	CLIP-seq
MIRT1995991	hsa-miR-647	CLIP-seq
MIRT1995992	hsa-miR-942	CLIP-seq
MIRT2229982	hsa-miR-1343	CLIP-seq
MIRT1995967	hsa-miR-145	CLIP-seq
MIRT2229983	hsa-miR-3064-3p	CLIP-seq
MIRT2229984	hsa-miR-3120-3p	CLIP-seq
MIRT2229985	hsa-miR-3120-5p	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT2229986	hsa-miR-346	CLIP-seq
MIRT2229987	hsa-miR-3657	CLIP-seq
MIRT2229988	hsa-miR-3663-5p	CLIP-seq
MIRT2229989	hsa-miR-3910	CLIP-seq
MIRT2229990	hsa-miR-3942-5p	CLIP-seq
MIRT2229991	hsa-miR-4288	CLIP-seq
MIRT2229992	hsa-miR-4289	CLIP-seq
MIRT2229993	hsa-miR-4326	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT2229994	hsa-miR-4493	CLIP-seq
MIRT2229995	hsa-miR-4527	CLIP-seq
MIRT2229996	hsa-miR-4643	CLIP-seq
MIRT2229997	hsa-miR-466	CLIP-seq
MIRT2229998	hsa-miR-4662a-5p	CLIP-seq
MIRT2229999	hsa-miR-4703-5p	CLIP-seq
MIRT998782	hsa-miR-4740-5p	CLIP-seq
MIRT2230000	hsa-miR-4762-3p	CLIP-seq
MIRT2230001	hsa-miR-4789-3p	CLIP-seq
MIRT2230002	hsa-miR-632	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT2388019	hsa-miR-3664-3p	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT998782	hsa-miR-4740-5p	CLIP-seq
MIRT998818	hsa-miR-4759	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT2449776	hsa-miR-4659a-3p	CLIP-seq
MIRT2449777	hsa-miR-4659b-3p	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT2449776	hsa-miR-4659a-3p	CLIP-seq
MIRT2449777	hsa-miR-4659b-3p	CLIP-seq
MIRT2533827	hsa-miR-1184	CLIP-seq
MIRT2533828	hsa-miR-1205	CLIP-seq
MIRT2533829	hsa-miR-1286	CLIP-seq
MIRT2533830	hsa-miR-1290	CLIP-seq
MIRT2533831	hsa-miR-1299	CLIP-seq
MIRT1995968	hsa-miR-3117-5p	CLIP-seq
MIRT1995969	hsa-miR-3150a-5p	CLIP-seq
MIRT1995970	hsa-miR-3150b-5p	CLIP-seq
MIRT2533832	hsa-miR-3158-5p	CLIP-seq
MIRT2533833	hsa-miR-3162-3p	CLIP-seq
MIRT2533834	hsa-miR-3167	CLIP-seq
MIRT2533835	hsa-miR-3714	CLIP-seq
MIRT2533836	hsa-miR-3938	CLIP-seq
MIRT2533837	hsa-miR-4267	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT2229995	hsa-miR-4527	CLIP-seq
MIRT2533838	hsa-miR-4722-5p	CLIP-seq
MIRT2533839	hsa-miR-4742-5p	CLIP-seq
MIRT2533840	hsa-miR-4782-5p	CLIP-seq
MIRT2533841	hsa-miR-516b	CLIP-seq
MIRT2533842	hsa-miR-876-5p	CLIP-seq
MIRT2533843	hsa-miR-940	CLIP-seq
MIRT2533827	hsa-miR-1184	CLIP-seq
MIRT2533828	hsa-miR-1205	CLIP-seq
MIRT2533829	hsa-miR-1286	CLIP-seq
MIRT2533831	hsa-miR-1299	CLIP-seq
MIRT1995968	hsa-miR-3117-5p	CLIP-seq
MIRT1995969	hsa-miR-3150a-5p	CLIP-seq
MIRT1995970	hsa-miR-3150b-5p	CLIP-seq
MIRT2533832	hsa-miR-3158-5p	CLIP-seq
MIRT2533833	hsa-miR-3162-3p	CLIP-seq
MIRT2533835	hsa-miR-3714	CLIP-seq
MIRT2533836	hsa-miR-3938	CLIP-seq
MIRT2533837	hsa-miR-4267	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT2229995	hsa-miR-4527	CLIP-seq
MIRT2533838	hsa-miR-4722-5p	CLIP-seq
MIRT2533839	hsa-miR-4742-5p	CLIP-seq
MIRT2533840	hsa-miR-4782-5p	CLIP-seq
MIRT2533841	hsa-miR-516b	CLIP-seq
MIRT2533843	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001725	Component	Stress fiber	IEA
GO:0003334	Process	Keratinocyte development	IEA
GO:0003382	Process	Epithelial cell morphogenesis	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	NAS	8327473
GO:0005515	Function	Protein binding	IPI	10644691, 10676904, 12393796, 12577067, 16076904, 17474147, 19270716
GO:0005737	Component	Cytoplasm	HDA	16791210
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005903	Component	Brush border	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005925	Component	Focal adhesion	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0007165	Process	Signal transduction	TAS	8327473
GO:0007517	Process	Muscle organ development	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0015629	Component	Actin cytoskeleton	TAS	9651345
GO:0016020	Component	Membrane	NAS	8327473
GO:0030018	Component	Z disc	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	TAS	8327473
GO:0030154	Process	Cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IPI	12393796
GO:0043025	Component	Neuronal cell body	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0051015	Function	Actin filament binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071346	Process	Cellular response to type II interferon	IEA

Other IDs

• MIM: 603381
• HGNC: 3755
• e!Ensembl: ENSG00000136068

Protein

• UniProt ID: O75369
• Protein name: Filamin-B (FLN-B) (ABP-278) (ABP-280 homolog) (Actin-binding-like protein) (Beta-filamin) (Filamin homolog 1) (Fh1) (Filamin-3) (Thyroid autoantigen) (Truncated actin-binding protein) (Truncated ABP)
• Protein function: Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction
• PDB: 2DI8, 2DI9, 2DIA, 2DIB, 2DIC, 2DJ4, 2DLG, 2DMB, 2DMC, 2E9I, 2E9J, 2EE6, 2EE9, 2EEA, 2EEB, 2EEC, 2EED, 2WA5, 2WA6, 2WA7, 3FER, 4B7L, 5DCP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	16 → 123	Calponin homology (CH) domain	Domain
  PF00307	CH	139 → 243	Calponin homology (CH) domain	Domain
  PF00630	Filamin	251 → 344	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	351 → 443	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	449 → 540	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	546 → 633	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	642 → 733	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	739 → 836	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	842 → 935	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	941 → 1031	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1037 → 1124	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1130 → 1219	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1225 → 1319	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1325 → 1412	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1418 → 1508	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1514 → 1605	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1611 → 1701	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1735 → 1813	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1818 → 1905	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1999 → 2086	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2098 → 2182	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2190 → 2277	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2286 → 2372	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2381 → 2468	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2509 → 2598	Filamin/ABP280 repeat	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Isoform 1 and isoform 2 are expressed in placenta, bone marrow, brain, umbilical vein endothelial cells (HUVEC), retina and skeletal muscle. Isoform 1 is predominantly expressed in prostate, uterus, liver, thyroid, stomach,
• Sequence:

  MPVTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVNKRIGNLQTDLSDGLRLIALLEVLSQK
  RMYRKYHQRPTFRQMQLENVSVALEFLDRESIKLVSIDSKAIVDGNLKLILGLVWTLILH
  YSISMPVWEDEGDDDAKKQTPKQRLLGWIQNKIPYLPITNFNQNWQDGKALGALVDSCAP
  GLCPDWESWDPQKPVDNAREAMQQADDWLGVPQVITPEEIIHPDVDEHSVMTYLSQFPKA
  KLKPGAPLKPKLNPKKARAYGRGIEPTGNMVKQPAKFTVDTISAGQGDVMVFVEDPEGNK
  EEAQVTPDSDKNKTYSVEYLPKVTGLHKVTVLFAGQHISKSPFEVSVDKAQGDASKVTAK
  GPGLEAVGNIANKPTYFDIYTAGAGVGDIGVEVEDPQGKNTVELLVEDKGNQVYRCVYKP
  MQPGPHVVKIFFAGDTIPKSPFVVQVGEACNPNACRASGRGLQPKGVRIRETTDFKVDTK
  AAGSGELGVTMKGPKGLEELVKQKDFLDGVYAFEYYPSTPGRYSIAITWGGHHIPKSPFE
  VQVGPEAGMQKVRAWGPGLHGGIVGRSADFVVESIGSEVGSLGFAIEGPSQAKIEYNDQN
  DGSCDVKYWPKEPGEYAVHIMCDDEDIKDSPYMAFIHPATGGYNPDLVRAYGPGLEKSGC
  IVNNLAEFTVDPKDAGKAPLKIFAQDGEGQRIDIQMKNRMDGTYACSYTPVKAIKHTIAV
  VWGGVNIPHSPYRVNIGQGSHPQKVKVFGPGVERSGLKANEPTHFTVDCTEAGEGDVSVG
  IKCDARVLSEDEEDVDFDIIHNANDTFTVKYVPPAAGRYTIKVLFASQEIPASPFRVKVD
  PSHDASKVKAEGPGLSKAGVENGKPTHFTVYTKGAGKAPLNVQFNSPLPGDAVKDLDIID
  NYDYSHTVKYTPTQQGNMQVLVTYGGDPIPKSPFTVGVAAPLDLSKIKLNGLENRVEVGK
  DQEFTVDTRGAGGQGKLDVTILSPSRKVVPCLVTPVTGRENSTAKFIPREEGLYAVDVTY
  DGHPVPGSPYTVEASLPPDPSKVKAHGPGLEGGLVGKPAEFTIDTKGAGTGGLGLTVEGP
  CEAKIECSDNGDGTCSVSYLPTKPGEYFVNILFEEVHIPGSPFKADIEMPFDPSKVVASG
  PGLEHGKVGEAGLLSVDCSEAGPGALGLEAVSDSGTKAEVSIQNNKDGTYAVTYVPLTAG
  MYTLTMKYGGELVPHFPARVKVEPAVDTSRIKVFGPGIEGKDVFREATTDFTVDSRPLTQ
  VGGDHIKAHIANPSGASTECFVTDNADGTYQVEYTPFEKGLHVVEVTYDDVPIPNSPFKV
  AVTEGCQPSRVQAQGPGLKEAFTNKPNVFTVVTRGAGIGGLGITVEGPSESKINCRDNKD
  GSCSAEYIPFAPGDYDVNITYGGAHIPGSPFRVPVKDVVDPSKVKIAGPGLGSGVRARVL
  QSFTVDSSKAGLAPLEVRVLGPRGLVEPVNVVDNGDGTHTVTYTPSQEGPYMVSVKYADE
  EIPRSPFKVKVLPTYDASKVTASGPGLSSYGVPASLPVDFAIDARDAGEGLLAVQITDQE
  GKPKRAIVHDNKDGTYAVTYIPDKTGRYMIGVTYGGDDIPLSPYRIRATQTGDASKCLAT
  GPGIASTVKTGEEVGFVVDAKTAGKGKVTCTVLTPDGTEAEADVIENEDGTYDIFYTAAK
  PGTYVIYVRFGGVDIPNSPFTVMATDGEVTAVEEAPVNACPPGFRPWVTEEAYVPVSDMN
  GLGFKPFDLVIPFAVRKGEITGEVHMPSGKTATPEIVDNKDGTVTVRYAPTEVGLHEMHI
  KYMGSHIPESPLQFYVNYPNSGSVSAYGPGLVYGVANKTATFTIVTEDAGEGGLDLAIEG
  PSKAEISCIDNKDGTCTVTYLPTLPGDYSILVKYNDKHIPGSPFTAKITDDSRRCSQVKL
  GSAADFLLDISETDLSSLTASIKAPSGRDEPCLLKRLPNNHIGISFIPREVGEHLVSIKK
  NGNHVANSPVSIMVVQSEIGDARRAKVYGRGLSEGRTFEMSDFIVDTRDAGYGGISLAVE
  GPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVKESIT
  RTSRAPSVATVGSICDLNLKIPEINSSDMSAHVTSPSGRVTEAEIVPMGKNSHCVRFVPQ
  EMGVHTVSVKYRGQHVTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGVPAEFSIWTRE
  AGAGGLSIAVEGPSKAEITFDDHKNGSCGVSYIAQEPGNYEVSIKFNDEHIPESPYLVPV
  IAPSDDARRLTVMSLQESGLKVNQPASFAIRLNGAKGKIDAKVHSPSGAVEECHVSELEP
  DKYAVRFIPHENGVHTIDVKFNGSHVVGSPFKVRVGEPGQAGNPALVSAYGTGLEGGTTG
  IQSEFFINTTRAGPGTLSVTIEGPSKVKMDCQETPEGYKVMYTPMAPGNYLISVKYGGPN
  HIVGSPFKAKVTGQRLVSPGSANETSSILVESVTRSSTETCYSAIPKASSDASKVTSKGA
  GLSKAFVGQKSSFLVDCSKAGSNMLLIGVHGPTTPCEEVSMKHVGNQQYNVTYVVKERGD
  YVLAVKWGEEHIPGSPFHVTVP

• Sequence length: 2602

Pathways

KEGG:

Focal adhesion

Reactome:

ISG15 antiviral mechanism

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
Abnormality of the skeletal system	Likely pathogenic; Pathogenic	rs1553704446	RCV001814201	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atelosteogenesis type I	Pathogenic; Likely pathogenic	rs587777259, rs2107224894, rs121908894, rs121908895, rs80356503, rs2471006494, rs80356504	RCV000114316 RCV002249990 RCV000006770 RCV000006771 RCV004795380 RCV004555272 RCV005411303	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atelosteogenesis type III	Pathogenic; Likely pathogenic	rs121908895, rs28937587, rs80356503, rs80356504, rs2097257677, rs2097209399	RCV000006772 RCV000006773 RCV004795380 RCV005411303 RCV001169838 RCV001199171	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Boomerang dysplasia	Pathogenic; Likely pathogenic	rs80356494, rs121908896, rs80356503, rs80356504	RCV000006774 RCV000006775 RCV004795380 RCV005411303	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Connective tissue disorder	Likely pathogenic	rs2106947027, rs80356506	RCV002278739 RCV002276538	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FLNB-related disorder	Pathogenic; Likely pathogenic	rs80356508, rs2470996560, rs2471190195, rs2471197349, rs80356504	RCV004734500 RCV004529730 RCV004527962 RCV004531588 RCV004528149	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FLNB-Related Spectrum Disorders	Pathogenic	rs80356517	RCV002298447	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Larsen syndrome	Likely pathogenic; Pathogenic	rs2107220190, rs1274950884, rs372940610, rs2471161029, rs80356506, rs80356513, rs80356508, rs80356503, rs80356511, rs80356516, rs794727854, rs80356504, rs1553704446, rs868820857	RCV002238706 RCV002238707 RCV002238710 RCV002283427 RCV000030660 RCV000030661 RCV000030662 RCV000030663 RCV000020444 RCV000020455 RCV002468583 RCV003152668 RCV000625945 RCV000856788	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylocarpotarsal synostosis syndrome	Pathogenic; Likely pathogenic	rs775714153, rs2107062364, rs2107092260, rs2107082636, rs775301566, rs2471006570, rs80356521, rs80356519, rs80356520, rs80356503, rs121908897, rs121908898, rs2471110676, rs2477194940, rs17058845, rs2471173321, rs775497173, rs80356517, rs80356504, rs1553701033, rs1553703909, rs746105983, rs1575457582	RCV001806323 RCV001806389 RCV001806413 RCV001806418 RCV002272519 RCV002283633 RCV000006767 RCV000006768 RCV000006769 RCV004795380 RCV000006776 RCV000006777 RCV003228737 RCV003234849 RCV003338908 RCV003990113 RCV004556170 RCV000020443 RCV005411303 RCV000677697 RCV000677698 RCV000782185 RCV000995767	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of the vertebral column	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATELOSTEOGENESIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATELOSTEOGENESIS TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATELOSTEOGENESIS TYPE 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATELOSTEOGENESIS, TYPE 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATELOSTEOGENESIS, TYPE I	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATELOSTEOGENESIS, TYPE III	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BULLOUS PEMPHIGOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CLUBFOOT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM INFECTIOUS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Knee dislocation	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARSEN SYNDROME, DOMINANT TYPE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limited knee flexion/extension	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOCHONDRODYSPLASIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patellar hypoplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe postnatal growth retardation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Synostosis involving bones of the lower limbs	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory carpal bones	Accessory carpal bones	HPO_DG			★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	17982230		★☆☆☆☆ Found in Text Mining only
Alloimmunisation	Alloimmunisation	BEFREE	8727210		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	17082617, 19404951, 19480848, 25187574, 28405734, 7652740, 8311558, 8770637, 8912512, 9864038		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	25918995	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30035341		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30035341		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	30671804		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	8911997		★☆☆☆☆ Found in Text Mining only
Atelosteogenesis type 1	Atelosteogenesis	Pubtator	24624349, 35832491	Associate	★☆☆☆☆ Found in Text Mining only
Atelosteogenesis Type 3	Atelosteogenesis	CTD_human_DG	14991055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atelosteogenesis Type 3	Atelosteogenesis	GENOMICS_ENGLAND_DG	14991055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atelosteogenesis Type 3	Atelosteogenesis	UNIPROT_DG	14991055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atelosteogenesis Type 3	Atelosteogenesis	BEFREE	16752402		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atelosteogenesis Type 3	Atelosteogenesis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atelosteogenesis Type 3	Atelosteogenesis	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atelosteogenesis type I	Atelosteogenesis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atelosteogenesis type III	Atelosteogenesis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atelosteogenesis, type 1	Atelosteogenesis	CTD_human_DG	14991055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atelosteogenesis, type 1	Atelosteogenesis	UNIPROT_DG	14991055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atelosteogenesis, type 1	Atelosteogenesis	GENOMICS_ENGLAND_DG	14991055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atelosteogenesis, type 1	Atelosteogenesis	BEFREE	16752402, 17360453, 19505475, 23401428, 24624349, 28739045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atelosteogenesis, type 1	Atelosteogenesis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	21868097	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	14551602, 8847232, 9278325, 9326638		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	20972722		★☆☆☆☆ Found in Text Mining only
Bare lymphocyte syndrome 2	Bare Lymphocyte Syndrome	BEFREE	12149238		★☆☆☆☆ Found in Text Mining only
Bare Lymphocyte Syndrome Type I	Bare lymphocyte syndrome	Pubtator	12149238	Associate	★☆☆☆☆ Found in Text Mining only
Bare Lymphocyte Syndrome, Type I	Bare Lymphocyte Syndrome	BEFREE	12149238, 12644316, 7517574		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	12911283, 7794046		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	12149238		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	24176111	Associate	★☆☆☆☆ Found in Text Mining only
Boomerang dysplasia	Boomerang Dysplasia	GENOMICS_ENGLAND_DG	14991055		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Boomerang dysplasia	Boomerang Dysplasia	BEFREE	15994868, 17360453, 22354125, 28739045, 29566257		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Boomerang dysplasia	Boomerang Dysplasia	UNIPROT_DG	15994868		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Boomerang dysplasia	Boomerang Dysplasia	ORPHANET_DG	15994868		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Boomerang dysplasia	Boomerang Dysplasia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Boomerang dysplasia	Boomerang dysplasia	Pubtator	29797497, 35832491	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Boomerang dysplasia	Boomerang Dysplasia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Boomerang dysplasia	Boomerang Dysplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28860053		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19909011, 25454514, 27017207, 30059005		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	32420379	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	17245734, 21796142		★☆☆☆☆ Found in Text Mining only
Bronchomalacia	Bronchomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32323860	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	14984960, 17382375, 18316574, 19909011		★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	9420627	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23717429	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25667220, 7707419		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31829305		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28391886		★☆☆☆☆ Found in Text Mining only
Carpal synostosis	Carpal synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	8045794, 8344720, 9129973, 9548076		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	14984960, 19188174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	24288424		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	14984960, 17382375, 19188174		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	26382629		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	34491919	Associate	★☆☆☆☆ Found in Text Mining only
Compression of spinal cord	Spinal cord compression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	27395407, 28739045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital dislocation of knee	Congenital Dislocation Of Knee	BEFREE	18322662		★☆☆☆☆ Found in Text Mining only
Congenital dislocation of knee	Congenital Dislocation Of Knee	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	23402683, 29348113		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	15579186, 16003173, 21876069, 23402683, 28447626, 29348113		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12738726		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	8732477, 9361175		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	18433405		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29698251, 30035341		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	7916022, 8543762		★☆☆☆☆ Found in Text Mining only
Desbuquois syndrome	Desbuquois Syndrome	BEFREE	20830804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29343547, 7578413, 7903260, 7911550, 8052140, 8248212, 8988536, 9129974, 9226129, 9250458, 9548077		★☆☆☆☆ Found in Text Mining only
Diffuse panbronchiolitis	Diffuse Panbronchiolitis	BEFREE	10323341		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	28739045		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	GWASCAT_DG	23568457		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	16191421		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	7916022, 8543762		★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia	Epiphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Erythema Nodosum	Erythema nodosum	BEFREE	12911283		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	15774487, 26205887		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	26205887		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	15887980, 23401652		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23543272		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23543272, 30497369	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23543272		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23543272		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23543272	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	BEFREE	29095481		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	18668571		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	11573137, 9027960		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	33407338	Associate	★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	30035341		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	11573137, 20972722		★☆☆☆☆ Found in Text Mining only
Hearing Loss, Mixed Conductive-Sensorineural	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	12960213, 18252712, 21868097	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	11781255		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism, Familial, Type II	Hyperaldosteronism	BEFREE	18307725		★☆☆☆☆ Found in Text Mining only
HYPERALDOSTERONISM, FAMILIAL, TYPE IV	Hyperaldosteronism	BEFREE	28447626, 29348113, 30199917, 30569443		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	11716039		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of spine	Hypoplasia Of Spine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23543272	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	9361175		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	27019229		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	8181963, 8203956		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	21440064		★☆☆☆☆ Found in Text Mining only
Larsen syndrome	Larsen Syndrome	UNIPROT_DG	14991055, 16801345		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Larsen syndrome	Larsen Syndrome	GENOMICS_ENGLAND_DG	14991055		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Larsen syndrome	Larsen Syndrome	BEFREE	15994868, 16648377, 16801345, 18236428, 18322662, 20830804, 27048506, 28145583, 28475863, 28639312, 28739045		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Larsen Syndrome	Larsen syndrome	Pubtator	16648377, 16801345, 18322662, 24755949, 27048506, 28475863, 28639312, 30170566, 30916490, 31836586, 34491919, 35832491	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Larsen syndrome	Larsen Syndrome	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Larsen syndrome	Larsen Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Larsen syndrome	Larsen Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Larsen syndrome, dominant type	Larsen syndrome	CTD_human_DG	14991055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Larsen syndrome, dominant type	Larsen syndrome	BEFREE	16801345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Larsen syndrome, dominant type	Larsen syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Laryngostenosis	Laryngostenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	19376791	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23766440, 24556721		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	17940597		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	22025554, 30504837		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	7707419	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	19387463		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	7774641		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19909011, 25454514, 27017207, 30059005		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	26205887		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25667220, 7707419		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31829305		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31358530		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29355559		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16541432		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26205887, 28610992, 29507106, 29710479, 31074096		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	14984960, 19188174		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	23662797, 28161407, 30189467		★☆☆☆☆ Found in Text Mining only
Malrotation of colon	Malrotation of colon	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10360639, 18385764, 8851724		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	21159167		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	BEFREE	29797497		★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	7929801		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	7689010		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	9062975		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	7689010		★☆☆☆☆ Found in Text Mining only
Nail-Patella Syndrome	Nail-Patella Syndrome	BEFREE	30035341		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14984960, 16140964, 18316574, 19188174, 19243822, 20219242, 22298786, 23302073, 28610992, 29341428, 29355559, 31434881, 31829305		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11260505		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27098790		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	19909011		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	16752402, 29095481, 29566257, 29797497		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	29797497	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	19727905	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31829305		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31358530		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31928012	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	31560756		★☆☆☆☆ Found in Text Mining only
Paresis	Paresis	Pubtator	34491919	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27098790		★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	18668571		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	16690408		★☆☆☆☆ Found in Text Mining only
Platybasia	Platybasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29698251, 30035341		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	30189467		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29355559		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	29580912		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	7707419	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	12648225, 15306733, 17581627, 8911997		★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	9712355		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12738726, 9816317		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	21440064		★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10689121, 7728393, 8162639, 9536820		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	10471632, 8882407		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15318034		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	28739045		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scott Syndrome	Scott Syndrome	BEFREE	29805041		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	12149238	Associate	★☆☆☆☆ Found in Text Mining only
Severe short-limb dwarfism	Short-Limb Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	29095481		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin lesion	Skin Lesion	BEFREE	12911283		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	30035341		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylocarpotarsal synostosis	Spondylocarpotarsal Synostosis Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	GENOMICS_ENGLAND_DG	14991055		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	CTD_human_DG	14991055		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	BEFREE	17635842, 27019229, 27381093, 28145000, 28205584, 28739045, 29566257		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	CLINVAR_DG	26380986		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylolysis	Spondylolysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24302582		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15814633		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16541432		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	29797497	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	16112028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Talipes Equinovalgus	Talipes Equinovalgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	BEFREE	29566257		★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35247916	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	9115580, 9361175		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32323860	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	17940597		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	14551602		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	14551602		★☆☆☆☆ Found in Text Mining only