SOX10 (SRY-box transcription factor 10)

Gene

• Entrez ID: 6663
• Gene name: SRY-box transcription factor 10
• Gene symbol: SOX10
• Synonyms (NCBI Gene): DOM, PCWH, SOX-10, WS2E, WS4, WS4C
• Chromosome: 22
• Chromosome location: 22q13.1
• Summary: This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after for

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1380109	hsa-miR-1273	CLIP-seq
MIRT1380110	hsa-miR-1293	CLIP-seq
MIRT1380111	hsa-miR-1908	CLIP-seq
MIRT1380112	hsa-miR-4483	CLIP-seq
MIRT1380113	hsa-miR-4486	CLIP-seq
MIRT1380114	hsa-miR-4505	CLIP-seq
MIRT1380115	hsa-miR-4651	CLIP-seq
MIRT1380116	hsa-miR-608	CLIP-seq
MIRT1380117	hsa-miR-663	CLIP-seq
MIRT2113658	hsa-miR-4276	CLIP-seq
MIRT2113659	hsa-miR-4302	CLIP-seq
MIRT2113660	hsa-miR-4715-3p	CLIP-seq
MIRT2336563	hsa-miR-1915	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SOX9	Repression	15896776

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
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:0001216	Function	DNA-binding transcription activator activity	IEA
GO:0001216	Function	DNA-binding transcription activator activity	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	TAS	9722528
GO:0001701	Process	In utero embryonic development	IEA
GO:0001755	Process	Neural crest cell migration	IBA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0002009	Process	Morphogenesis of an epithelium	IBA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005515	Function	Protein binding	IPI	11029584, 16214168, 16494873, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	18512230
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9722528
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006368	Process	Transcription elongation by RNA polymerase II	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007422	Process	Peripheral nervous system development	IBA
GO:0007422	Process	Peripheral nervous system development	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9425902
GO:0010626	Process	Negative regulation of Schwann cell proliferation	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0014003	Process	Oligodendrocyte development	IEA
GO:0014003	Process	Oligodendrocyte development	ISS
GO:0014015	Process	Positive regulation of gliogenesis	IEA
GO:0016020	Component	Membrane	IEA
GO:0022010	Process	Central nervous system myelination	IEA
GO:0022010	Process	Central nervous system myelination	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0031643	Process	Positive regulation of myelination	IEA
GO:0032502	Process	Developmental process	IEA
GO:0032808	Process	Lacrimal gland development	IEA
GO:0042802	Function	Identical protein binding	IPI	11029584
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0048484	Process	Enteric nervous system development	IBA
GO:0048484	Process	Enteric nervous system development	IEA
GO:0048546	Process	Digestive tract morphogenesis	IEA
GO:0048589	Process	Developmental growth	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048709	Process	Oligodendrocyte differentiation	ISS
GO:0048863	Process	Stem cell differentiation	IEA
GO:0061138	Process	Morphogenesis of a branching epithelium	IEA
GO:0071393	Process	Cellular response to progesterone stimulus	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:1990841	Function	Promoter-specific chromatin binding	IEA

Other IDs

• MIM: 602229
• HGNC: 11190
• e!Ensembl: ENSG00000100146

Protein

• UniProt ID: P56693
• Protein name: Transcription factor SOX-10
• Protein function: Transcription factor that plays a central role in developing and mature glia (By similarity). Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in o
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12444	Sox_N	12 → 93	Sox developmental protein N terminal	Family
  PF00505	HMG_box	104 → 172	HMG (high mobility group) box	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fetal brain and in adult brain, heart, small intestine and colon.
• Sequence:

  MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQD
  GEADDDKFPVCIREAVSQVLSGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARR
  KLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERLRMQHKKDHPDYKYQPRRRKN
  GKAAQGEAECPGGEAEQGGTAAIQAHYKSAHLDHRHPGEGSPMSDGNPEHPSGQSHGPPT
  PPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGEISHEVMSNMETFDVAELDQY
  LPPNGHPGHVSSYSAAGYGLGSALAVASGHSAWISKPPGVALPTVSPPGVDAKAQVKTET
  AGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQFDYSDHQPSGPYYGHSGQASG
  LYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP

• Sequence length: 466

Pathways

Reactome:

EGR2 and SOX10-mediated initiation of Schwann cell myelination

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
Aganglionic megacolon	Likely pathogenic	rs760539449	RCV000736047	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness with anatomical inner ear anomalies	Likely pathogenic; Pathogenic	rs2145768544, rs2518052342	RCV003155439 RCV003155595	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hirschsprung disease, susceptibility to, 1	Likely pathogenic	rs606231342	RCV000144844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadism with anosmia	Pathogenic	rs1601887036, rs1932477493	RCV004794473 RCV001249445	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Likely pathogenic; Pathogenic	rs2145768544	RCV005646786	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Likely pathogenic; Pathogenic	rs2145761047	RCV006262012	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PCWH syndrome	Likely pathogenic; Pathogenic	rs2145760379, rs2145777226, rs2145776948, rs2145761378, rs2145761680, rs483353058, rs2145768544, rs74315516, rs74315518, rs397515368, rs74315521, rs397515372, rs940482154, rs1555939491, rs1601878540, rs74315515, rs1932469753, rs1932131665, rs886039664, rs1932142815	RCV001376161 RCV001542711 RCV001799539 RCV001799540 RCV001799541 RCV000119813 RCV003328487 RCV000007822 RCV000007823 RCV000007824 RCV000007828 RCV000007837 RCV003148260 RCV005253009 RCV002481756 RCV001007915 RCV001093609 RCV001170066 RCV001170070 RCV001253528	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic deafness	Likely pathogenic; Pathogenic	rs876657660, rs1555939403, rs1555939408	RCV000215786 RCV000614769 RCV000615378	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SOX10-related disorder	Likely pathogenic; Pathogenic	rs2518052569, rs2518047030, rs2518053088, rs2518046732, rs2518046801, rs1555938395, rs1555937400, rs1555939523	RCV004527890 RCV004531661 RCV004536678 RCV004528754 RCV004540905 RCV002291283 RCV005870740 RCV004533451	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg syndrome	Likely pathogenic	rs1164043046	RCV003405198	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg syndrome type 1	Likely pathogenic; Pathogenic	rs2145776911, rs2145776991, rs2145777042, rs1932463844, rs2145777129, rs2145777226, rs1601878759	RCV001775031 RCV001775029 RCV001775030 RCV001775028 RCV001775032 RCV001775033 RCV001775008	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg syndrome type 2A	Likely pathogenic; Pathogenic	rs1555937398, rs1555938422, rs1555939415, rs1555939564	RCV000626400 RCV000626401 RCV000626402 RCV000626403	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg syndrome type 2E	Pathogenic; Likely pathogenic	rs2145768352, rs2145777238, rs2145768481, rs2145777835, rs2145768544, rs2145761047, rs2518052383, rs2518041600, rs2518042216, rs1057518656, rs1555939408, rs1555938395, rs1555939491, rs1569167607, rs1555939523, rs1569169289, rs1601886662, rs1555939415, rs1555939403, rs1601878540, rs1482985217, rs1932122748, rs1932130190, rs1932137446, rs1932149722, rs1932278265, rs1932279377, rs1932280017, rs1932460904, rs1932462410, rs1932463755, rs1932463844, rs1932464388, rs1932482365	RCV001353100 RCV001353099 RCV002283550 RCV001582453 RCV003328487 RCV002282887 RCV003153121 RCV003155594 RCV003315175 RCV000415328 RCV001290172 RCV001290177 RCV001290166 RCV000721948 RCV001290165 RCV000735663 RCV000787014 RCV001004070 RCV000985243 RCV001290181 RCV001170065 RCV001170069 RCV001290180 RCV001290179 RCV001290178 RCV001290176 RCV001290175 RCV001290174 RCV001290173 RCV001290171 RCV001290170 RCV001290169 RCV001290168 RCV001290164	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg syndrome type 2E, with neurologic involvement	Pathogenic	rs74315520, rs397515370, rs267607081	RCV000007827 RCV000007834 RCV000007835	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg syndrome type 2E, without neurologic involvement	Pathogenic	rs74315515, rs1555939381, rs397515369, rs397515386, rs397515387, rs397515457	RCV000007821 RCV000007830 RCV000007832 RCV000023178 RCV000023179 RCV000055673	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg syndrome type 4A	Pathogenic	rs1569169328, rs1569167515	RCV000722042 RCV000761189	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg syndrome type 4C	Pathogenic; Likely pathogenic	rs756120041, rs2145768481, rs2145776981, rs2145777042, rs1932280017, rs483353057, rs2145768544, rs2145768136, rs74315514, rs73415876, rs397515366, rs397515367, rs281797260, rs74315520, rs121909117, rs1932463755, rs2518046893, rs2518052358, rs1064796049, rs1555939564, rs1555937390, rs1569167586, rs1555937395, rs1555937400, rs1555937463, rs763210407, rs1373797370, rs1555939403, rs1555939421, rs1555939426, rs1555939459, rs1555939460, rs1555939476, rs1555939523, rs1932141204, rs1601878540, rs74315515, rs1932477493, rs1482985217	RCV001375372 RCV001822912 RCV001822888 RCV001822911 RCV001729954 RCV000119814 RCV003328487 RCV002250946 RCV000007817 RCV000007818 RCV000007819 RCV000007820 RCV000007825 RCV000007826 RCV000007833 RCV003884002 RCV003445440 RCV003881683 RCV000660273 RCV001729642 RCV000660287 RCV000681523 RCV000660286 RCV000660285 RCV000660284 RCV000660283 RCV000660282 RCV000660281 RCV000660280 RCV000660279 RCV000660277 RCV000660276 RCV000660275 RCV000660272 RCV001199409 RCV002481756 RCV001262264 RCV001170068 RCV003339524	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Charcot-Marie-Tooth disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEAF BLIND HYPOPIGMENTATION SYNDROME, YEMENITE TYPE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY ONSET SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HIRSCHSPRUNG DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME TYPE 2	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 2E	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4C	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG-SHAH SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46, XX Testicular Disorders of Sex Development	46, XX Gonadal Sex Reversal	BEFREE	19933217		★☆☆☆☆ Found in Text Mining only
46,XX SEX REVERSAL 4	46, XX Gonadal Sex Reversal	BEFREE	15108202		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30628926		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	27327192		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	27084744, 28216417, 28343365, 28394798, 31105427, 31128548		★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	23929265		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	BEFREE	11685702		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23799842, 27084744, 28216417, 28500913		★☆☆☆☆ Found in Text Mining only
Alacrima	Alacrima	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	31895100, 37628576	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29337119		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29337119	Associate	★☆☆☆☆ Found in Text Mining only
Anomalous pulmonary artery	Anomalous Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	23799842, 27084744, 28216417, 28500913		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	10762540	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	LHGDN	16896310		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	26945037		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	26945037	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	31377750	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	31377750		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28258492		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	23237859	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	16896310, 25059678		★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	16791471		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15377839, 15824149, 16215870, 23197006, 24435779, 26467042, 27943102, 28189679, 28843711, 30814872		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23260325, 26467042, 27809618, 28216417, 34972751, 37406289	Associate	★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	10798354		★☆☆☆☆ Found in Text Mining only
Campomelic Dysplasia	Campomelic dysplasia	Pubtator	31194875	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29695285, 35485705	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23799842, 28843711, 29385322, 30903273		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	28216417, 31222589, 37660928	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	25724000	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25001176	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35465267	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	33991527	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	30205833	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28258492		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37479138	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30498968	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	28343365		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23197006		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	26287936		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31356925		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	11734543, 27466180		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C	Charcot-Marie-Tooth Disease	BEFREE	24833716		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, X-linked, 1	Charcot-Marie-Tooth disease	BEFREE	11734543		★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	23929265		★☆☆☆☆ Found in Text Mining only
Chronic intestinal pseudo-obstruction	Intestinal Pseudoobstruction	BEFREE	12189494		★☆☆☆☆ Found in Text Mining only
Cochlear Diseases	Cochlear diseases	Pubtator	23237859	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23197006		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31671847		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypomyelinating neuropathy	Congenital Hypomyelinating Neuropathy	BEFREE	12447940		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
CREST Syndrome	CREST Syndrome	BEFREE	11026454, 12789277		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	27955842, 28809055		★☆☆☆☆ Found in Text Mining only
Cystic Disease Of Lung	Cystic lung disease	Pubtator	29894722	Associate	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	27759048, 31960627, 32795927, 35248088	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	21898658, 29792164, 34171997	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	29596844	Inhibit	★☆☆☆☆ Found in Text Mining only
Demyelinating sensory neuropathy	Demyelinating Sensory Neuropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	30957251		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	11026454		★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	28328136	Associate	★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	30903273		★☆☆☆☆ Found in Text Mining only
Duodenitis	Duodenitis	Pubtator	32668278	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early onset schizophrenia	Schizophrenia	BEFREE	22640896		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early onset schizophrenia	Schizophrenia	PSYGENET_DG	22640896		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	BEFREE	21822601		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	26287936, 26945037		★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Esophageal achalasia	Pubtator	24845202	Associate	★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	34301297	Associate	★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	34301297	Associate	★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED	Frontotemporal dementia	BEFREE	30190412		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	27943102		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	BEFREE	29792164		★☆☆☆☆ Found in Text Mining only
Glandular Neoplasms	Glandular Neoplasms	BEFREE	28343365		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21649900, 33339831	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17855658, 26287936		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	17855658		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28852847, 36524115	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	32168437	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	10762540	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	25059678		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	20130826, 31213145, 32150337, 32908489, 33251892, 35248088	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	29986705, 35691110	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	28556023		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28302385		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	10077527, 11454798, 11499640, 11734543, 11953745, 12189494, 12239580, 12720173, 14523991, 15843399, 16504559, 17009072, 17448776, 17855451, 17999358, 18348267, 19853745, 20130826, 20206619, 20739296, 21822601, 22008330, 22246888, 22295143, 22848661, 24357527, 24845202, 25399070, 26060192, 26228106, 26261006, 27693352, 28328136, 28544110, 29361054, 29681101, 31789936, 9465906, 9560246		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung disease	Pubtator	11454798, 16623715, 20130826, 21898658, 24845202, 28328136, 31789936, 33557787, 34171997, 35725288	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	LHGDN	12720173, 18348267		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hurthle Cell Tumor	Tumor	BEFREE	27327192		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	33339831	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	32908489, 36927561	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	10077527, 11499640, 12789277, 18397875, 24311220, 24582978, 26228106, 28431046		★☆☆☆☆ Found in Text Mining only
Hypoplasia of iris	Hypoplasia Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the olfactory bulb	Hypoplasia of the olfactory bulb	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	21822601		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	33442024	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ileus	Ileus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	23643381, 25256313, 26228106, 26680571, 30914325		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	ORPHANET_DG	23643381		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann syndrome	Kallmann Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann syndrome	Pubtator	32908489, 33442024	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	BEFREE	17855658		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	16504559, 20308050, 24311220		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	19132125		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	27138764		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25001176, 27943102, 31401394		★☆☆☆☆ Found in Text Mining only
Long-segment aganglionic megacolon	Long-segment aganglionic megacolon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	30256452		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15377839, 15824149, 16215870, 24435779, 26365194, 26467042, 27943102, 28189679, 30814872		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	27943102		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29084958		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22703285		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	28809055		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30392914		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28258492		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20890226, 25001176, 25301735, 27084744, 28189679, 28394798, 29385322		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	23929265, 27477693		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	22772081		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17855658, 18923447, 20444197, 20890226, 22772081, 23197006, 23799842, 23913827, 24086527, 24441506, 24608986, 24670642, 24927141, 25629959, 26461473, 27008969, 27110718, 27955842, 28435246, 28843711, 29059311, 29181082, 29295999, 29315345, 29377259, 29385322, 29894722, 29969627, 30205833, 30224375, 30506895, 30642390, 30794352, 30950082, 30957251, 31361351		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	17855658		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	18923447, 19845757, 20067553, 22157936, 22736149, 22971344, 23260325, 23275444, 24086527, 24608986, 24618614, 24954720, 25329125, 25724000, 26384656, 26461473, 26489459, 26927636, 26945789, 28216417, 29315345, 29778085, 29894722, 30205833, 30605742, 31399133, 31881017, 32239440, 32379409, 34218270, 35088579, 35296667, 35585935, 36040798, 36251678, 36317703, 37343247, 37847239, 37924516, 37952520, 38201278, 39237877, 39567011, 40004220, 40056545	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	22736149, 35296667, 36317703	Associate	★☆☆☆☆ Found in Text Mining only
MELORHEOSTOSIS, ISOLATED	Melorheostosis	BEFREE	23799842		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	28340171		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	25611246, 30957251		★☆☆☆☆ Found in Text Mining only
Microcolon	Microcolon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mowat-Wilson syndrome	Mowat-Wilson Syndrome	BEFREE	20206619		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	27327192		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	17360586, 29337119	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29337119, 30212518		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29035684		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15750623, 17855658, 20890226, 25001176, 25301735, 26347145, 26461473, 26945037, 27084744, 27327192, 27346570, 27477693, 28343365, 28435246, 28548128, 28605142, 29315345, 29385322, 29405341, 29894722, 29969627, 30392914, 30531326, 30794352, 30950082, 31105427, 31548087		★☆☆☆☆ Found in Text Mining only
Nerve Sheath Tumors	Nerve Sheath Tumors	BEFREE	28843711, 30963729		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	10762540, 32795927	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	14523991, 17855451		★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	BEFREE	26461473		★☆☆☆☆ Found in Text Mining only
Neural crest tumor	Neural Crest Tumor	BEFREE	28343365		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	23413263, 28340171		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	12944398	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19216736		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	16791471		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	30864974		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	15255999, 25189642	Inhibit	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	23929265, 25724000, 26585554	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30205833		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	26945037		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	27327192		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	16504559, 21822601, 24311220, 28328136, 28544110		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	GENOMICS_ENGLAND_DG	10762540, 17999358, 21898658, 28390600, 9760192		★☆☆☆☆ Found in Text Mining only
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	UNIPROT_DG	10762540, 15004559, 19208381, 21898658		★☆☆☆☆ Found in Text Mining only
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	BEFREE	16504559, 17855451, 29681101		★☆☆☆☆ Found in Text Mining only
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	ORPHANET_DG	22963253, 24311220		★☆☆☆☆ Found in Text Mining only
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Peripheral Nerve Sheath Neoplasm	Peripheral Nerve Sheath Neoplasm	BEFREE	26371783		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	12447940		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	34674889	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	12447940		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	16896310, 26945037		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22703285		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31539119	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Reticulosarcoma	Reticulosarcoma	BEFREE	28302385		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	25724000	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	27327192		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	28548128	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	29385322		★☆☆☆☆ Found in Text Mining only
Sarcoma Clear Cell	Sarcoma	Pubtator	37405123, 39567011	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	16036108	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	23929265, 24131748, 33076385	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15930386, 16741945, 17621166, 22640896, 23102571, 23456610, 24389572, 24399042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	15930386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17621166, 22640896, 23102571, 23456610, 24399042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	29792164	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	11734543, 22295143, 29922125		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	BEFREE	24582978		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	21822601		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	19933217, 28328136		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	30531326		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 23	Spastic paraplegia	Pubtator	35691110	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30071233		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30392914		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	23929265, 27138764		★☆☆☆☆ Found in Text Mining only
Syringocystadenoma Papilliferum	Papillary Syringocystadenoma	BEFREE	28343365		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	23643381, 24582978		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28189679, 28216417, 28423538, 30279965, 30468800, 30628926		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28423538, 29894722, 32899175, 33753865, 34972751	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	24927141, 29059311		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	32150337	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	11423552, 33790887	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	27110718, 31306558		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	27110718, 31306558		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg Syndrome	BEFREE	10528251, 10982026, 16504559, 16921166, 17999358, 18397875, 20478267, 21531202, 21898658, 21965087, 22842075, 22848661, 23237859, 23643381, 24582978, 24715709, 24735604, 24845202, 25256313, 25932447, 26228106, 26296878, 27562378, 28236341, 28390600, 28544110, 28893539, 29216801, 29361054, 29792164, 30628718, 9560246		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome	Waardenburg syndrome	Pubtator	10536986, 12944398, 16494873, 16623715, 17999358, 20130826, 21898658, 22876130, 23237859, 24845202, 25932447, 26781036, 28328136, 29407415, 29502391, 29630160, 29792164, 30936914, 31213145, 31960627, 32150337, 32168437, 32199281, 32795927, 32908489, 32908492, 33345266, 33442024, 33557787, 34171997, 34453037, 35691110, 35725288, 36329483, 36331148, 36927561, 37272645, 37365589	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome	Waardenburg Syndrome	GENOMICS_ENGLAND_DG	10762540, 28390600		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome	Waardenburg Syndrome	LHGDN	17999358, 18348267, 18348274, 18627047		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome	Waardenburg Syndrome	ORPHANET_DG	22378281, 24311220		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg Syndrome Type 1	Waardenburg Syndrome	BEFREE	29792164		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg Syndrome Type 2	Waardenburg Syndrome	ORPHANET_DG	17999358, 21898658		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg syndrome type 2	Waardenburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome Type 2	Waardenburg Syndrome	BEFREE	21965087, 22842075, 22848661, 24735604, 25817900, 26296878, 29045167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg syndrome type 2	Waardenburg syndrome	Pubtator	31213145, 32795927, 33045145, 33251892, 34171997, 36927561, 37272645	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome Type 2	Waardenburg Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg syndrome type 2A	Waardenburg syndrome	Pubtator	17999358, 21898658, 27759048, 29792164, 33345266, 33557787, 36329483	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg syndrome type 4	Waardenburg syndrome	Pubtator	10762540, 11454798, 12036907, 16623715, 17999358, 22378281, 23237859, 28128317, 31194875, 34171997, 34453037, 35725288, 9720918	Associate	★☆☆☆☆ Found in Text Mining only
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	BEFREE	10077527, 10441344, 10684944, 10762540, 10798354, 10938265, 11032856, 11454798, 11641219, 11685702, 11734543, 12036907, 12447940, 12789277, 14523991, 15843399, 16504559, 18348267, 19132125, 20130826, 20206619, 21531202, 21822601, 22246888, 22378281, 24311220, 24357527, 24440785, 26060192, 27863645, 28128317, 28276298, 9462749, 9722528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	ORPHANET_DG	22378281, 24311220		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome, Type 4c	Waardenburg syndrome	CLINGEN_DG	10973953, 10982026, 12668617, 18348274, 24311220, 24735604, 24887110, 27240497, 9425902, 9462749		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome, Type 4c	Waardenburg syndrome	GENOMICS_ENGLAND_DG	17999358, 21898658, 2364338, 23643381, 28390600, 9760192		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome, Type 4c	Waardenburg syndrome	UNIPROT_DG	18348274, 21898658, 9462749		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome, Type 4c	Waardenburg syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome, Type 4c	Waardenburg syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIA	Waardenburg syndrome	BEFREE	21965087, 26296878, 29792164, 30628718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIA	Waardenburg syndrome	CLINVAR_DG	29407415		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIE	Waardenburg syndrome	UNIPROT_DG	10441344, 17999358, 21898658		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIE	Waardenburg syndrome	GENOMICS_ENGLAND_DG	10762540, 17999358, 21898658, 9760192		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIE	Waardenburg syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE IIE	Waardenburg syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg-Shah syndrome	Waardenburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	26945037		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	29792164, 32168437	Associate	★☆☆☆☆ Found in Text Mining only
Yemenite deaf-blind hypopigmentation syndrome	Yemenite Deaf-Blind Hypopigmentation Syndrome	BEFREE	10441344, 16921166, 22963253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Yemenite deaf-blind hypopigmentation syndrome	Yemenite Deaf-Blind Hypopigmentation Syndrome	GENOMICS_ENGLAND_DG	17999358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations