MSX2 (msh homeobox 2)

Gene

• Entrez ID: 4488
• Gene name: Msh homeobox 2
• Gene symbol: MSX2
• Synonyms (NCBI Gene): CRS2, FPP, HOX8, MSH, PFM, PFM1
• Chromosome: 5
• Chromosome location: 5q35.2
• Summary: This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper cranio

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893895	C>A,T	Likely-pathogenic, pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs104893896	G>A	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs121912971	GC>TA	Pathogenic	Stop gained, coding sequence variant
rs121912972	G>-	Pathogenic	Stop gained, coding sequence variant
rs1561643029	->ATTG	Pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant
rs1561643060	AGACCCAG>-	Pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000728	hsa-miR-135b-5p	Review	19574400
MIRT724823	hsa-miR-4293	HITS-CLIP	19536157
MIRT724822	hsa-miR-148b-5p	HITS-CLIP	19536157
MIRT724821	hsa-miR-6874-3p	HITS-CLIP	19536157
MIRT724820	hsa-miR-4277	HITS-CLIP	19536157
MIRT724819	hsa-miR-181a-2-3p	HITS-CLIP	19536157
MIRT724818	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT724817	hsa-miR-3660	HITS-CLIP	19536157
MIRT724816	hsa-miR-4526	HITS-CLIP	19536157
MIRT724815	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT724814	hsa-miR-2277-3p	HITS-CLIP	19536157
MIRT724813	hsa-miR-6509-3p	HITS-CLIP	19536157
MIRT724812	hsa-miR-4436b-5p	HITS-CLIP	19536157
MIRT724811	hsa-miR-3686	HITS-CLIP	19536157
MIRT724810	hsa-miR-3692-3p	HITS-CLIP	19536157
MIRT724809	hsa-miR-503-3p	HITS-CLIP	19536157
MIRT650547	hsa-miR-587	HITS-CLIP	23824327
MIRT641655	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT641654	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT641653	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT641652	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT641651	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT491440	hsa-miR-3928-5p	PAR-CLIP	23592263
MIRT491438	hsa-miR-6806-3p	PAR-CLIP	23592263
MIRT491439	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT491437	hsa-miR-3195	PAR-CLIP	23592263
MIRT491436	hsa-miR-4533	PAR-CLIP	23592263
MIRT491435	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT491434	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT491439	hsa-miR-1252-5p	PAR-CLIP	26701625
MIRT491439	hsa-miR-1252-5p	PAR-CLIP	26701625
MIRT491439	hsa-miR-1252-5p	PAR-CLIP	26701625
MIRT491439	hsa-miR-1252-5p	PAR-CLIP	26701625
MIRT491437	hsa-miR-3195	PAR-CLIP	26701625
MIRT491437	hsa-miR-3195	PAR-CLIP	26701625
MIRT491437	hsa-miR-3195	PAR-CLIP	26701625
MIRT491437	hsa-miR-3195	PAR-CLIP	26701625
MIRT491440	hsa-miR-3928-5p	PAR-CLIP	26701625
MIRT491436	hsa-miR-4533	PAR-CLIP	26701625
MIRT491436	hsa-miR-4533	PAR-CLIP	26701625
MIRT491436	hsa-miR-4533	PAR-CLIP	26701625
MIRT491435	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT491435	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT491435	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT491435	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT491434	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT491434	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT491434	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT491434	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT491438	hsa-miR-6806-3p	PAR-CLIP	26701625
MIRT736458	hsa-miR-410-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	33209671
MIRT724823	hsa-miR-4293	HITS-CLIP	19536157
MIRT724822	hsa-miR-148b-5p	HITS-CLIP	19536157
MIRT724821	hsa-miR-6874-3p	HITS-CLIP	19536157
MIRT724820	hsa-miR-4277	HITS-CLIP	19536157
MIRT724819	hsa-miR-181a-2-3p	HITS-CLIP	19536157
MIRT724818	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT724817	hsa-miR-3660	HITS-CLIP	19536157
MIRT724816	hsa-miR-4526	HITS-CLIP	19536157
MIRT724815	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT724814	hsa-miR-2277-3p	HITS-CLIP	19536157
MIRT724813	hsa-miR-6509-3p	HITS-CLIP	19536157
MIRT724812	hsa-miR-4436b-5p	HITS-CLIP	19536157
MIRT724811	hsa-miR-3686	HITS-CLIP	19536157
MIRT724810	hsa-miR-3692-3p	HITS-CLIP	19536157
MIRT724809	hsa-miR-503-3p	HITS-CLIP	19536157
MIRT650547	hsa-miR-587	HITS-CLIP	23824327
MIRT641655	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT641654	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT641653	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT641652	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT641651	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT491440	hsa-miR-3928-5p	PAR-CLIP	23592263
MIRT491438	hsa-miR-6806-3p	PAR-CLIP	23592263
MIRT491439	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT491437	hsa-miR-3195	PAR-CLIP	23592263
MIRT491436	hsa-miR-4533	PAR-CLIP	23592263
MIRT491435	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT491434	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT1162039	hsa-miR-1185	CLIP-seq
MIRT1162040	hsa-miR-1197	CLIP-seq
MIRT1162041	hsa-miR-1237	CLIP-seq
MIRT1162042	hsa-miR-1253	CLIP-seq
MIRT1162043	hsa-miR-1294	CLIP-seq
MIRT1162044	hsa-miR-1323	CLIP-seq
MIRT1162045	hsa-miR-135a	CLIP-seq
MIRT1162046	hsa-miR-135b	CLIP-seq
MIRT1162047	hsa-miR-142-5p	CLIP-seq
MIRT1162048	hsa-miR-1908	CLIP-seq
MIRT1162049	hsa-miR-1913	CLIP-seq
MIRT1162050	hsa-miR-197	CLIP-seq
MIRT1162051	hsa-miR-3117-3p	CLIP-seq
MIRT1162052	hsa-miR-3119	CLIP-seq
MIRT1162053	hsa-miR-3121-5p	CLIP-seq
MIRT1162054	hsa-miR-3151	CLIP-seq
MIRT1162055	hsa-miR-3163	CLIP-seq
MIRT1162056	hsa-miR-3180	CLIP-seq
MIRT1162057	hsa-miR-3180-3p	CLIP-seq
MIRT1162058	hsa-miR-3196	CLIP-seq
MIRT1162059	hsa-miR-324-3p	CLIP-seq
MIRT1162060	hsa-miR-329	CLIP-seq
MIRT1162061	hsa-miR-3605-5p	CLIP-seq
MIRT1162062	hsa-miR-362-3p	CLIP-seq
MIRT1162063	hsa-miR-3647-3p	CLIP-seq
MIRT1162064	hsa-miR-3653	CLIP-seq
MIRT1162065	hsa-miR-3658	CLIP-seq
MIRT1162066	hsa-miR-3679-5p	CLIP-seq
MIRT1162067	hsa-miR-3691-3p	CLIP-seq
MIRT1162068	hsa-miR-3919	CLIP-seq
MIRT1162069	hsa-miR-3941	CLIP-seq
MIRT1162070	hsa-miR-409-5p	CLIP-seq
MIRT1162071	hsa-miR-410	CLIP-seq
MIRT1162072	hsa-miR-4263	CLIP-seq
MIRT1162073	hsa-miR-4282	CLIP-seq
MIRT1162074	hsa-miR-4287	CLIP-seq
MIRT1162075	hsa-miR-4313	CLIP-seq
MIRT1162076	hsa-miR-4316	CLIP-seq
MIRT1162077	hsa-miR-4422	CLIP-seq
MIRT1162078	hsa-miR-4447	CLIP-seq
MIRT1162079	hsa-miR-4469	CLIP-seq
MIRT1162080	hsa-miR-4472	CLIP-seq
MIRT1162081	hsa-miR-4476	CLIP-seq
MIRT1162082	hsa-miR-4488	CLIP-seq
MIRT1162083	hsa-miR-4495	CLIP-seq
MIRT1162084	hsa-miR-450b-5p	CLIP-seq
MIRT1162085	hsa-miR-4520a-3p	CLIP-seq
MIRT1162086	hsa-miR-4677-3p	CLIP-seq
MIRT1162087	hsa-miR-4679	CLIP-seq
MIRT1162088	hsa-miR-4685-3p	CLIP-seq
MIRT1162089	hsa-miR-4697-5p	CLIP-seq
MIRT1162090	hsa-miR-4724-3p	CLIP-seq
MIRT1162091	hsa-miR-4727-5p	CLIP-seq
MIRT1162092	hsa-miR-4735-5p	CLIP-seq
MIRT1162093	hsa-miR-507	CLIP-seq
MIRT1162094	hsa-miR-5096	CLIP-seq
MIRT1162095	hsa-miR-518a-5p	CLIP-seq
MIRT1162096	hsa-miR-527	CLIP-seq
MIRT1162097	hsa-miR-541	CLIP-seq
MIRT1162098	hsa-miR-548c-3p	CLIP-seq
MIRT1162099	hsa-miR-548l	CLIP-seq
MIRT1162100	hsa-miR-548n	CLIP-seq
MIRT1162101	hsa-miR-548o	CLIP-seq
MIRT1162102	hsa-miR-557	CLIP-seq
MIRT1162103	hsa-miR-561	CLIP-seq
MIRT1162104	hsa-miR-576-5p	CLIP-seq
MIRT1162105	hsa-miR-580	CLIP-seq
MIRT1162106	hsa-miR-603	CLIP-seq
MIRT1162107	hsa-miR-642a	CLIP-seq
MIRT1162108	hsa-miR-651	CLIP-seq
MIRT1162109	hsa-miR-654-5p	CLIP-seq
MIRT1162110	hsa-miR-663	CLIP-seq
MIRT2046447	hsa-miR-1291	CLIP-seq
MIRT2046448	hsa-miR-1293	CLIP-seq
MIRT2046449	hsa-miR-146b-3p	CLIP-seq
MIRT2046450	hsa-miR-185	CLIP-seq
MIRT1162048	hsa-miR-1908	CLIP-seq
MIRT2046451	hsa-miR-3158-3p	CLIP-seq
MIRT2046452	hsa-miR-3175	CLIP-seq
MIRT1162056	hsa-miR-3180	CLIP-seq
MIRT1162057	hsa-miR-3180-3p	CLIP-seq
MIRT1162058	hsa-miR-3196	CLIP-seq
MIRT2046453	hsa-miR-328	CLIP-seq
MIRT2046454	hsa-miR-339-5p	CLIP-seq
MIRT2046455	hsa-miR-4306	CLIP-seq
MIRT2046456	hsa-miR-4440	CLIP-seq
MIRT1162078	hsa-miR-4447	CLIP-seq
MIRT1162080	hsa-miR-4472	CLIP-seq
MIRT2046457	hsa-miR-4483	CLIP-seq
MIRT1162082	hsa-miR-4488	CLIP-seq
MIRT2046458	hsa-miR-4644	CLIP-seq
MIRT1162089	hsa-miR-4697-5p	CLIP-seq
MIRT2046459	hsa-miR-4723-5p	CLIP-seq
MIRT2046460	hsa-miR-513a-3p	CLIP-seq
MIRT2046461	hsa-miR-644	CLIP-seq
MIRT1162110	hsa-miR-663	CLIP-seq
MIRT2046462	hsa-miR-663b	CLIP-seq
MIRT2275541	hsa-miR-1266	CLIP-seq
MIRT2275542	hsa-miR-1278	CLIP-seq
MIRT2046447	hsa-miR-1291	CLIP-seq
MIRT2046448	hsa-miR-1293	CLIP-seq
MIRT2046449	hsa-miR-146b-3p	CLIP-seq
MIRT2046450	hsa-miR-185	CLIP-seq
MIRT1162048	hsa-miR-1908	CLIP-seq
MIRT2275543	hsa-miR-1915	CLIP-seq
MIRT2275544	hsa-miR-193a-3p	CLIP-seq
MIRT2275545	hsa-miR-193b	CLIP-seq
MIRT2275546	hsa-miR-2278	CLIP-seq
MIRT2275547	hsa-miR-2682	CLIP-seq
MIRT2275548	hsa-miR-3064-5p	CLIP-seq
MIRT2046452	hsa-miR-3175	CLIP-seq
MIRT1162056	hsa-miR-3180	CLIP-seq
MIRT1162057	hsa-miR-3180-3p	CLIP-seq
MIRT1162058	hsa-miR-3196	CLIP-seq
MIRT2046453	hsa-miR-328	CLIP-seq
MIRT2046454	hsa-miR-339-5p	CLIP-seq
MIRT2275549	hsa-miR-3652	CLIP-seq
MIRT2275550	hsa-miR-3664-3p	CLIP-seq
MIRT2275551	hsa-miR-3677-3p	CLIP-seq
MIRT2275552	hsa-miR-4297	CLIP-seq
MIRT2046455	hsa-miR-4306	CLIP-seq
MIRT2275553	hsa-miR-4320	CLIP-seq
MIRT2275554	hsa-miR-4419a	CLIP-seq
MIRT2275555	hsa-miR-4430	CLIP-seq
MIRT2275556	hsa-miR-4433	CLIP-seq
MIRT2046456	hsa-miR-4440	CLIP-seq
MIRT1162078	hsa-miR-4447	CLIP-seq
MIRT1162080	hsa-miR-4472	CLIP-seq
MIRT2046457	hsa-miR-4483	CLIP-seq
MIRT1162082	hsa-miR-4488	CLIP-seq
MIRT2275557	hsa-miR-449c	CLIP-seq
MIRT2275558	hsa-miR-4505	CLIP-seq
MIRT2275559	hsa-miR-4510	CLIP-seq
MIRT2275560	hsa-miR-4514	CLIP-seq
MIRT2275561	hsa-miR-4518	CLIP-seq
MIRT2275562	hsa-miR-4524	CLIP-seq
MIRT2046458	hsa-miR-4644	CLIP-seq
MIRT2275563	hsa-miR-4645-5p	CLIP-seq
MIRT2275564	hsa-miR-4659a-3p	CLIP-seq
MIRT2275565	hsa-miR-4659b-3p	CLIP-seq
MIRT2275566	hsa-miR-4673	CLIP-seq
MIRT2275567	hsa-miR-4678	CLIP-seq
MIRT2275568	hsa-miR-4692	CLIP-seq
MIRT1162089	hsa-miR-4697-5p	CLIP-seq
MIRT2275569	hsa-miR-4722-5p	CLIP-seq
MIRT2046459	hsa-miR-4723-5p	CLIP-seq
MIRT2275570	hsa-miR-4726-3p	CLIP-seq
MIRT1162104	hsa-miR-576-5p	CLIP-seq
MIRT2046461	hsa-miR-644	CLIP-seq
MIRT1162110	hsa-miR-663	CLIP-seq
MIRT2046462	hsa-miR-663b	CLIP-seq
MIRT2275571	hsa-miR-892b	CLIP-seq
MIRT2275572	hsa-miR-942	CLIP-seq
MIRT2046450	hsa-miR-185	CLIP-seq
MIRT1162048	hsa-miR-1908	CLIP-seq
MIRT2046452	hsa-miR-3175	CLIP-seq
MIRT1162056	hsa-miR-3180	CLIP-seq
MIRT1162057	hsa-miR-3180-3p	CLIP-seq
MIRT1162058	hsa-miR-3196	CLIP-seq
MIRT2046455	hsa-miR-4306	CLIP-seq
MIRT1162078	hsa-miR-4447	CLIP-seq
MIRT1162080	hsa-miR-4472	CLIP-seq
MIRT1162082	hsa-miR-4488	CLIP-seq
MIRT2046458	hsa-miR-4644	CLIP-seq
MIRT1162089	hsa-miR-4697-5p	CLIP-seq
MIRT2046459	hsa-miR-4723-5p	CLIP-seq
MIRT1162110	hsa-miR-663	CLIP-seq
MIRT2046450	hsa-miR-185	CLIP-seq
MIRT2431271	hsa-miR-3125	CLIP-seq
MIRT2431272	hsa-miR-3916	CLIP-seq
MIRT2046455	hsa-miR-4306	CLIP-seq
MIRT2275554	hsa-miR-4419a	CLIP-seq
MIRT2431273	hsa-miR-4496	CLIP-seq
MIRT2275559	hsa-miR-4510	CLIP-seq
MIRT2046458	hsa-miR-4644	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	14671321
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0001503	Process	Ossification	IEA
GO:0001503	Process	Ossification	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	ISS
GO:0002063	Process	Chondrocyte development	IEA
GO:0002076	Process	Osteoblast development	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003161	Process	Cardiac conduction system development	NAS	26786210
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	IEA
GO:0003416	Process	Endochondral bone growth	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12145306, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035313	Process	Wound healing, spreading of epidermal cells	IEA
GO:0035880	Process	Embryonic nail plate morphogenesis	IEA
GO:0042060	Process	Wound healing	IEA
GO:0042476	Process	Odontogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	9073066
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045617	Process	Negative regulation of keratinocyte differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0048598	Process	Embryonic morphogenesis	IBA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051795	Process	Positive regulation of timing of catagen	IEA
GO:0060346	Process	Bone trabecula formation	IEA
GO:0060349	Process	Bone morphogenesis	IEA
GO:0060363	Process	Cranial suture morphogenesis	TAS	8968743
GO:0060364	Process	Frontal suture morphogenesis	IEA
GO:0060444	Process	Branching involved in mammary gland duct morphogenesis	IEA
GO:0061180	Process	Mammary gland epithelium development	IEA
GO:0061311	Process	Cell surface receptor signaling pathway involved in heart development	IEA
GO:0070166	Process	Enamel mineralization	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	IEA
GO:0090427	Process	Activation of meiosis	IEA
GO:0097152	Process	Mesenchymal cell apoptotic process	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2001055	Process	Positive regulation of mesenchymal cell apoptotic process	IEA

Other IDs

• MIM: 123101
• HGNC: 7392
• e!Ensembl: ENSG00000120149

Protein

• UniProt ID: P35548
• Protein name: Homeobox protein MSX-2 (Homeobox protein Hox-8)
• Protein function: Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in li
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	143 → 199	Homeodomain	Domain

• Sequence:

  MASPSKGNDLFSPDEEGPAVVAGPGPGPGGAEGAAEERRVKVSSLPFSVEALMSDKKPPK
  EASPLPAESASAGATLRPLLLSGHGAREAHSPGPLVKPFETASVKSENSEDGAAWMQEPG
  RYSPPPRHMSPTTCTLRKHKTNRKPRTPFTTSQLLALERKFRQKQYLSIAERAEFSSSLN
  LTETQVKIWFQNRRAKAKRLQEAELEKLKMAAKPMLPSSFSLPFPISSPLQAASIYGASY
  PFHRPVLPIPPVGLYATPVGYGMYHLS

• Sequence length: 267

Pathways

KEGG:

Human T-cell leukemia virus 1 infection

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
Craniosynostosis 2	Pathogenic	rs104893895, rs2480603008	RCV000203576 RCV003445413 RCV000018474	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranium bifidum occultum	Pathogenic	rs2113498696, rs104893895	RCV001949945 RCV000690192 RCV001210266	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parietal foramina 1	Pathogenic	rs2113498725, rs104893896, rs121912971, rs121912972, rs1561643060	RCV000018475 RCV000018476 RCV000018478 RCV000018479 RCV000018481	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parietal foramina with cleidocranial dysplasia	Pathogenic	rs1561643029	RCV000018480	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS, BOSTON TYPE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS, TYPE 2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL ENAMEL HYPOPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE UROGENITAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MSX2-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARIETAL FORAMINA	—	CTD, ClinGen, Disgenet, GWAS catalog CTD, ClinGen, Disgenet, GWAS catalog CTD, ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARIETAL FORAMINA WITH CLAVICULAR HYPOPLASIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTERIOR CORTICAL ATROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH AGENESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
5q-syndrome	5q-syndrome	BEFREE	18000908		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	18854600	Associate	★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	16420275		★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	BEFREE	11320527		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	18299954		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	20961362		★☆☆☆☆ Found in Text Mining only
Aplasia cutis congenita of scalp	Aplasia Cutis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	33958655	Associate	★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	30683901		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	30683901		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30683901		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30268882		★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	31221479		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15945508, 19170109, 20682066		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20682066, 21730974	Associate	★☆☆☆☆ Found in Text Mining only
Bruck syndrome 1	Bruck syndrome	Pubtator	27146342	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	22874762	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31261501	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	20961362	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	20961362	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36344906	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29725445		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	29725445		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	21498730		★☆☆☆☆ Found in Text Mining only
Chromosome 11p11.2 Deletion Syndrome	11p11.2 Deletion Syndrome	BEFREE	10439965, 14872200		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	18433704		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	19815628		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	16327884	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	16327884, 31122291	Associate	★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	22717651		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15713990		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15713990, 25450519, 27468871, 28286778		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28286778	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	BEFREE	11320527		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	23342975		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27297948		★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	14872200		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	22531139		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	16319823, 27884935	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	12407713, 12674336, 16540516, 17686002, 17955513, 18000908, 19533795, 21082653, 21567924, 23918290, 23949913, 24666290, 27884935, 7554921, 7597092, 8106171, 8782984, 8968743, 9342602, 9917362		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	GENOMICS_ENGLAND_DG	23918290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis Type 2	Craniosynostosis	Pubtator	18786927	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis, Boston type	Craniosynostosis syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	BEFREE	10767351, 11683913, 12674336, 14987407, 18000908, 18786927, 23918290, 23949913, 8968743, 9147639, 9342602, 9917362		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	GENOMICS_ENGLAND_DG	14571277, 23918290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	UNIPROT_DG	23918290, 23949913, 8106171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	ORPHANET_DG	23918290, 23949913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	20060954		★☆☆☆☆ Found in Text Mining only
Dermoid Cyst	Dermoid Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	Pubtator	23342975	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28286778, 28829997		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28286778, 28829997		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28286778	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18433704		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic cardiomyopathy	BEFREE	16831933		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29464183		★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double outlet right ventricle	Pubtator	26556783	Associate	★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	BEFREE	11320527		★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	Pubtator	16319823	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	BEFREE	21499300		★☆☆☆☆ Found in Text Mining only
Enlarged parietal foramina	Enlarged parietal foramina	Orphanet			★☆☆☆☆ Found in Text Mining only
Female Urogenital Diseases	Female Urogenital Diseases	CTD_human_DG	16513791		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	16753021		★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	BEFREE	29068141		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	29214313	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	BEFREE	14872200		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	7649547		★☆☆☆☆ Found in Text Mining only
Hypotrichosis And Recurrent Skin Vesicles	Hypotrichosis and recurrent skin vesicles	Pubtator	23342975	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	27312535	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	16319823	Associate	★☆☆☆☆ Found in Text Mining only
Irido-corneal dysgenesis	Anterior segment dysgenesis	BEFREE	30683901		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	27001421		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	23342975, 28333962		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	19815628		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	28286778		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28286778	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15945508, 20682066		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18349132, 21465479, 21730974, 31261501		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19107131, 25450519, 27468871		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20107842		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29725445		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15713990		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20682066		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21730974		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21730974, 36012688	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	24666290		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndrome with Isolated del(5q)	Myelodysplastic syndrome	BEFREE	18000908		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	22531139		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	18187185		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15643505, 15945508, 18349132, 20682066, 27581836, 28286778, 31548378, 31754067, 7687426		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	11320527, 21362336		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20060954	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10569470		★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	BEFREE	29068141		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18349132, 20961362, 21465479, 21730974, 31261501		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	16425399, 18349132		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16425399, 20961362, 31261501	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	20961362	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	20961362		★☆☆☆☆ Found in Text Mining only
PARIETAL FORAMINA	Parietal Foramina	BEFREE	10767351, 11017806, 11106354, 14571277, 14872200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARIETAL FORAMINA	Parietal Foramina	ORPHANET_DG	16319823		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parietal Foramina	Parietal foramina	Pubtator	16319823	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARIETAL FORAMINA	Parietal Foramina	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARIETAL FORAMINA	Parietal Foramina	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARIETAL FORAMINA	Parietal Foramina	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARIETAL FORAMINA 1	Parietal Foramina	UNIPROT_DG	10742103, 10767351		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PARIETAL FORAMINA 1	Parietal Foramina	GENOMICS_ENGLAND_DG	23918290		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PARIETAL FORAMINA 1	Parietal Foramina	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parietal foramina with clavicular hypoplasia	Parietal Foramina With Clavicular Hypoplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parietal Foramina With Cleidocranial Dysplasia	Parietal Foramina With Cleidocranial Dysplasia	BEFREE	14571277		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parietal Foramina With Cleidocranial Dysplasia	Parietal Foramina With Cleidocranial Dysplasia	GENOMICS_ENGLAND_DG	14571277, 23918290		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parietal Foramina With Cleidocranial Dysplasia	Parietal Foramina With Cleidocranial Dysplasia	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parietal Foramina With Cleidocranial Dysplasia	Parietal Foramina With Cleidocranial Dysplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parietal Foramina With Cleidocranial Dysplasia	Parietal Foramina With Cleidocranial Dysplasia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	30511498		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	30311680		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31566253		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	19835636		★☆☆☆☆ Found in Text Mining only
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	BEFREE	11106354		★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	BEFREE	23918290		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	BEFREE	23918290		★☆☆☆☆ Found in Text Mining only
Spina Bifida Cystica	Spina Bifida Cystica	BEFREE	11320527		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	33958655	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34435915	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19107131, 25450519, 27468871		★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	9375922		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	23918290, 26813283		★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	BEFREE	21567924		★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	27312535	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	23038096	Associate	★☆☆☆☆ Found in Text Mining only