EED (embryonic ectoderm development)

Gene

• Entrez ID: 8726
• Gene name: Embryonic ectoderm development
• Gene symbol: EED
• Synonyms (NCBI Gene): COGIS, HEED, WAIT1
• Chromosome: 11
• Chromosome location: 11q14.2
• Summary: This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts w

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1131692173	A>C,G	Pathogenic	Intron variant, synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs1131692174	C>T	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1131692175	A>G	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1131692176	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004086	hsa-miR-101-3p	Western blot	19008416
MIRT021689	hsa-miR-138-5p	Western blot;qRT-PCR	21770894
MIRT029750	hsa-miR-26b-5p	Microarray	19088304
MIRT048018	hsa-miR-30c-5p	CLASH	23622248
MIRT718468	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT718468	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT718467	hsa-miR-3155a	HITS-CLIP	19536157
MIRT718466	hsa-miR-3155b	HITS-CLIP	19536157
MIRT718465	hsa-miR-484	HITS-CLIP	19536157
MIRT718464	hsa-miR-6728-3p	HITS-CLIP	19536157
MIRT718463	hsa-miR-412-3p	HITS-CLIP	19536157
MIRT718462	hsa-miR-6754-3p	HITS-CLIP	19536157
MIRT718461	hsa-miR-6837-3p	HITS-CLIP	19536157
MIRT718460	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT718459	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT718458	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT718457	hsa-miR-3977	HITS-CLIP	19536157
MIRT718456	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT718455	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT718454	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT727802	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727801	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727799	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727800	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT727798	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT727797	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT048018	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT727796	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727795	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT718468	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT718468	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT718467	hsa-miR-3155a	HITS-CLIP	19536157
MIRT718466	hsa-miR-3155b	HITS-CLIP	19536157
MIRT718465	hsa-miR-484	HITS-CLIP	19536157
MIRT718464	hsa-miR-6728-3p	HITS-CLIP	19536157
MIRT718463	hsa-miR-412-3p	HITS-CLIP	19536157
MIRT718462	hsa-miR-6754-3p	HITS-CLIP	19536157
MIRT718461	hsa-miR-6837-3p	HITS-CLIP	19536157
MIRT718460	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT718459	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT718458	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT718457	hsa-miR-3977	HITS-CLIP	19536157
MIRT718456	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT718455	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT718454	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT952951	hsa-miR-101	CLIP-seq
MIRT952952	hsa-miR-181a	CLIP-seq
MIRT952953	hsa-miR-181b	CLIP-seq
MIRT952954	hsa-miR-181c	CLIP-seq
MIRT952955	hsa-miR-181d	CLIP-seq
MIRT952956	hsa-miR-186	CLIP-seq
MIRT952957	hsa-miR-3065-5p	CLIP-seq
MIRT952958	hsa-miR-30a	CLIP-seq
MIRT952959	hsa-miR-30b	CLIP-seq
MIRT952960	hsa-miR-30c	CLIP-seq
MIRT952961	hsa-miR-30d	CLIP-seq
MIRT952962	hsa-miR-30e	CLIP-seq
MIRT952963	hsa-miR-323-3p	CLIP-seq
MIRT952964	hsa-miR-34c-3p	CLIP-seq
MIRT952965	hsa-miR-3941	CLIP-seq
MIRT952966	hsa-miR-4262	CLIP-seq
MIRT952967	hsa-miR-4303	CLIP-seq
MIRT952968	hsa-miR-4468	CLIP-seq
MIRT952969	hsa-miR-4477a	CLIP-seq
MIRT952970	hsa-miR-4495	CLIP-seq
MIRT952971	hsa-miR-4645-3p	CLIP-seq
MIRT952972	hsa-miR-466	CLIP-seq
MIRT952973	hsa-miR-4672	CLIP-seq
MIRT952974	hsa-miR-4735-5p	CLIP-seq
MIRT952975	hsa-miR-4775	CLIP-seq
MIRT952976	hsa-miR-495	CLIP-seq
MIRT952977	hsa-miR-499-3p	CLIP-seq
MIRT952978	hsa-miR-499a-3p	CLIP-seq
MIRT952979	hsa-miR-513a-3p	CLIP-seq
MIRT952980	hsa-miR-520d-5p	CLIP-seq
MIRT952981	hsa-miR-524-5p	CLIP-seq
MIRT952982	hsa-miR-590-3p	CLIP-seq
MIRT952983	hsa-miR-603	CLIP-seq
MIRT952984	hsa-miR-7	CLIP-seq
MIRT952985	hsa-miR-936	CLIP-seq
MIRT952986	hsa-miR-3691-3p	CLIP-seq
MIRT952987	hsa-miR-548aa	CLIP-seq
MIRT952970	hsa-miR-4495	CLIP-seq
MIRT952974	hsa-miR-4735-5p	CLIP-seq
MIRT952975	hsa-miR-4775	CLIP-seq
MIRT952982	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001222	Function	Transcription corepressor binding	IPI	29628311
GO:0001739	Component	Sex chromatin	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	16357870, 17041588, 17560333, 20075857, 20080539, 20211142, 20543829, 21078963, 22009739, 22094255, 22439931, 22897849, 23238014, 24981860, 26496610, 27705803, 28229514, 29628311, 30021884, 32296183, 32814053, 33961781, 34591612, 35016035
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	9584199
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005677	Component	Chromatin silencing complex	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0008047	Function	Enzyme activator activity	IDA	15385962
GO:0008047	Function	Enzyme activator activity	IEA
GO:0008047	Function	Enzyme activator activity	IMP	28229514
GO:0021510	Process	Spinal cord development	IEA
GO:0031491	Function	Nucleosome binding	IBA
GO:0031507	Process	Heterochromatin formation	IBA
GO:0035098	Component	ESC/E(Z) complex	IBA
GO:0035098	Component	ESC/E(Z) complex	IDA	15385962, 20075857, 23104054, 23273982
GO:0035098	Component	ESC/E(Z) complex	IEA
GO:0042802	Function	Identical protein binding	IPI	11124122
GO:0045120	Component	Pronucleus	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	NAS	9584199
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0071514	Process	Genomic imprinting	IEA
GO:0140718	Process	Facultative heterochromatin formation	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:2000011	Process	Regulation of adaxial/abaxial pattern formation	IEA

Other IDs

• MIM: 605984
• HGNC: 3188
• e!Ensembl: ENSG00000074266

Protein

• UniProt ID: O75530
• Protein name: Polycomb protein EED (hEED) (Embryonic ectoderm development protein) (WD protein associating with integrin cytoplasmic tails 1) (WAIT-1)
• Protein function: Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' and 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Also recognizes 'Lys-26' trimethylated histone H1 with
• PDB: 3IIW, 3IIY, 3IJ0, 3IJ1, 3IJC, 3JPX, 3JZG, 3JZH, 3JZN, 3K26, 3K27, 4W2R, 4X3E, 5GSA, 5H13, 5H14, 5H15, 5H17, 5H19, 5H24, 5H25, 5HYN, 5IJ7, 5IJ8, 5K0M, 5LS6, 5TTW, 5U5H, 5U5K, 5U5T, 5U62, 5U69, 5U6D, 5U8A, 5U8F, 5WG6, 5WP3, 5WUK, 6B3W, 6C23, 6C24, 6LO2, 6SFB, 6SFC, 6U4Y, 6V3X, 6V3Y, 6W7F, 6W7G, 6WKR, 6YVI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	180 → 219	WD domain, G-beta repeat	Repeat
  PF00400	WD40	225 → 264	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, colon, heart, kidney, liver, lung, muscle, ovary, peripheral blood leukocytes, pancreas, placenta, prostate, spleen, small intestine, testis, thymus and uterus. Appears to be overexpressed in breast and colon cancer
• Sequence:

  MSEREVSTAPAGTDMPAAKKQKLSSDENSNPDLSGDENDDAVSIESGTNTERPDTPTNTP
  NAPGRKSWGKGKWKSKKCKYSFKCVNSLKEDHNQPLFGVQFNWHSKEGDPLVFATVGSNR
  VTLYECHSQGEIRLLQSYVDADADENFYTCAWTYDSNTSHPLLAVAGSRGIIRIINPITM
  QCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHALRLWNIQTDTLVAIFGGVEGHRDEVL
  SADYDLLGEKIMSCGMDHSLKLWRINSKRMMNAIKESYDYNPNKTNRPFISQKIHFPDFS
  TRDIHRNYVDCVRWLGDLILSKSCENAIVCWKPGKMEDDIDKIKPSESNVTILGRFDYSQ
  CDIWYMRFSMDFWQKMLALGNQVGKLYVWDLEVEDPHKAKCTTLTHHKCGAAIRQTSFSR
  DSSILIAVCDDASIWRWDRLR

• Sequence length: 441

Pathways

KEGG:

Polycomb repressive complex

Reactome:

PRC2 methylates histones and DNA
Oxidative Stress Induced Senescence
PKMTs methylate histone lysines
Regulation of PTEN gene transcription
Transcriptional Regulation by E2F6
HCMV Early Events

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
Autism spectrum disorder	Likely pathogenic	rs2495862536	RCV003127305	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cohen-Gibson syndrome	Likely pathogenic; Pathogenic	rs1945710855, rs2495876442, rs1131692173, rs1131692174, rs1131692175, rs1131692176, rs1565706229, rs1593776227	RCV002273048 RCV003757717 RCV000495739 RCV000494950 RCV000495365 RCV000495685 RCV000708568 RCV000988621	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2138241608	RCV002274336	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EED-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEAVER SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28387316		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30291346		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	36635771	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36969166	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23251464		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23251464	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24089088	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31126817		★☆☆☆☆ Found in Text Mining only
COHEN-GIBSON SYNDROME	Cohen-Gibson Syndrome	UNIPROT_DG	25787343, 27193220, 27868325, 28229514, 28475857		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COHEN-GIBSON SYNDROME	Cohen-Gibson Syndrome	GENOMICS_ENGLAND_DG	28229514, 28475857		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COHEN-GIBSON SYNDROME	Cohen-Gibson Syndrome	BEFREE	30793471		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COHEN-GIBSON SYNDROME	Cohen-Gibson Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colitis Ulcerative	Ulcerative colitis	Pubtator	23709348	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	31395608		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23709348		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23709348, 26567139	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31126817		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	30793471		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	31488577		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	29572378		★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	19502792		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	30249557	Associate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	26337274	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34266885	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30793471, 31096221, 31204298		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	30249557	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35747989	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	29309298		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23251464, 23709348	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23251464		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	20444294		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25264103, 30306639		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	25240281, 26990975, 28124441, 28295484, 28752843, 28898989, 30291346		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	36635771	Associate	★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30404791	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	31680297		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	31680297	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20444294, 23251464, 26298164, 27000413, 27578866, 28124441, 30854658, 31107719, 31395608		★☆☆☆☆ Found in Text Mining only
Nerve Sheath Tumors	Nerve Sheath Tumors	CTD_human_DG	25240281		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	21497788		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	29202477, 35636260	Associate	★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	26990975		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	26990975, 30306639		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	26990975, 30306639		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	25240281, 26645727, 26990975, 28752843, 28762137, 29482987, 30291346, 32666581	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36941558	Associate	★☆☆☆☆ Found in Text Mining only
Perineurioma	Perineurioma	CTD_human_DG	25240281		★☆☆☆☆ Found in Text Mining only
Peripheral Nerve Sheath Neoplasm	Peripheral Nerve Sheath Neoplasm	CTD_human_DG	25240281		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15817459	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schwannomatosis, Plexiform	Schwannomatosis	CTD_human_DG	25119042		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28387316		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30249557	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	22271413, 23709348		★☆☆☆☆ Found in Text Mining only
Weaver syndrome	Weaver Syndrome	BEFREE	27868325, 28229514, 29410511, 29681499, 30019515, 30793471, 30858506		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weaver syndrome	Weaver Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weaver syndrome	Weaver Syndrome	ORPHANET_DG	28229514		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weaver syndrome	Weaver syndrome	Pubtator	29681499	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations