PAX3 (paired box 3)

Gene

• Entrez ID: 5077
• Gene name: Paired box 3
• Gene symbol: PAX3
• Synonyms (NCBI Gene): CDHS, HUP2, PAX-3, WS1, WS3
• Chromosome: 2
• Chromosome location: 2q36.1
• Summary: This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs116473352	C>G	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, missense variant
rs147111779	G>A,C	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, genic downstream transcript variant, stop gained, intron variant
rs369886550	G>A,C,T	Likely-pathogenic	Stop gained, missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs772241382	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs876657717	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs876661317	T>A	Pathogenic	Coding sequence variant, stop gained
rs886041319	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1057524511	G>C	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1220219700	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1379006499	G>A,T	Likely-pathogenic	Intron variant
rs1553568831	->TGTA	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant
rs1553575157	T>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553575159	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553575179	AATGTCAGGGTAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553575191	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553592703	->AG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553592713	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553592757	ATT>TA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553592766	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1559316535	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1559316542	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1559318494	TTTCCCAGCTGAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1559318562	CTTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1574661904	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1574662128	->T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004670	hsa-miR-1-3p	ChIP-seq, Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	20956382
MIRT004670	hsa-miR-1-3p	ChIP-seq, Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	20956382
MIRT004671	hsa-miR-206	ChIP-seq, Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	20956382
MIRT004671	hsa-miR-206	ChIP-seq, Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	20956382
MIRT006521	hsa-miR-27a-3p	Luciferase reporter assay	19666532
MIRT006521	hsa-miR-27a-3p	Luciferase reporter assay	19666532
MIRT006522	hsa-miR-27b-3p	Luciferase reporter assay	19666532
MIRT006522	hsa-miR-27b-3p	Luciferase reporter assay	19666532
MIRT006521	hsa-miR-27a-3p	Luciferase reporter assay	19666532
MIRT006521	hsa-miR-27a-3p	Luciferase reporter assay	19666532
MIRT006522	hsa-miR-27b-3p	Luciferase reporter assay	19666532
MIRT006522	hsa-miR-27b-3p	Luciferase reporter assay	19666532
MIRT006522	hsa-miR-27b-3p	Reporter assay;Western blot;Other	19666532
MIRT004670	hsa-miR-1-3p	Microarray	18668037
MIRT006521	hsa-miR-27a-3p	Reporter assay;Other	19666532
MIRT052081	hsa-let-7b-5p	CLASH	23622248
MIRT051642	hsa-let-7e-5p	CLASH	23622248
MIRT043036	hsa-miR-324-5p	CLASH	23622248
MIRT004671	hsa-miR-206	Luciferase reporter assay, qRT-PCR, Western blot	22385659
MIRT004671	hsa-miR-206	Luciferase reporter assay, qRT-PCR, Western blot	22385659
MIRT004671	hsa-miR-206	Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25653235
MIRT004671	hsa-miR-206	Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25653235
MIRT004671	hsa-miR-206	Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25653235
MIRT004671	hsa-miR-206	Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25653235
MIRT622916	hsa-miR-8485	HITS-CLIP	23313552
MIRT622915	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT622914	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT622913	hsa-miR-603	HITS-CLIP	23313552
MIRT622912	hsa-miR-3941	HITS-CLIP	23313552
MIRT622916	hsa-miR-8485	HITS-CLIP	23824327
MIRT622915	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT622914	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622913	hsa-miR-603	HITS-CLIP	23824327
MIRT622912	hsa-miR-3941	HITS-CLIP	23824327
MIRT622916	hsa-miR-8485	HITS-CLIP	23824327
MIRT622915	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT622914	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622913	hsa-miR-603	HITS-CLIP	23824327
MIRT622912	hsa-miR-3941	HITS-CLIP	23824327
MIRT622916	hsa-miR-8485	HITS-CLIP	23824327
MIRT622915	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT622914	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622913	hsa-miR-603	HITS-CLIP	23824327
MIRT622912	hsa-miR-3941	HITS-CLIP	23824327
MIRT655375	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT622916	hsa-miR-8485	HITS-CLIP	23824327
MIRT622913	hsa-miR-603	HITS-CLIP	23824327
MIRT655374	hsa-miR-555	HITS-CLIP	23824327
MIRT622912	hsa-miR-3941	HITS-CLIP	23824327
MIRT622916	hsa-miR-8485	HITS-CLIP	23824327
MIRT622915	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT622914	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622913	hsa-miR-603	HITS-CLIP	23824327
MIRT622912	hsa-miR-3941	HITS-CLIP	23824327
MIRT629599	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT629598	hsa-miR-4801	HITS-CLIP	23824327
MIRT622916	hsa-miR-8485	HITS-CLIP	23824327
MIRT622916	hsa-miR-8485	HITS-CLIP	23824327
MIRT622915	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT622914	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622913	hsa-miR-603	HITS-CLIP	23824327
MIRT622912	hsa-miR-3941	HITS-CLIP	23824327
MIRT732391	hsa-miR-489-3p	Luciferase reporter assay, Western blot	27859625
MIRT732391	hsa-miR-489-3p	Luciferase reporter assay, Western blot	27859625
MIRT004670	hsa-miR-1-3p	HITS-CLIP	27418678
MIRT004670	hsa-miR-1-3p	HITS-CLIP	27418678
MIRT004670	hsa-miR-1-3p	HITS-CLIP	27418678
MIRT004671	hsa-miR-206	HITS-CLIP	27418678
MIRT004671	hsa-miR-206	HITS-CLIP	27418678
MIRT004671	hsa-miR-206	HITS-CLIP	27418678
MIRT629599	hsa-miR-4731-3p	HITS-CLIP	27418678
MIRT629599	hsa-miR-4731-3p	HITS-CLIP	27418678
MIRT629599	hsa-miR-4731-3p	HITS-CLIP	27418678
MIRT629598	hsa-miR-4801	HITS-CLIP	27418678
MIRT629598	hsa-miR-4801	HITS-CLIP	27418678
MIRT629598	hsa-miR-4801	HITS-CLIP	27418678
MIRT734633	hsa-miR-486-5p	Western blotting, qRT-PCR	31578374
MIRT622916	hsa-miR-8485	HITS-CLIP	23313552
MIRT622915	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT622914	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT622913	hsa-miR-603	HITS-CLIP	23313552
MIRT622912	hsa-miR-3941	HITS-CLIP	23313552
MIRT622916	hsa-miR-8485	HITS-CLIP	23824327
MIRT622915	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT622914	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622913	hsa-miR-603	HITS-CLIP	23824327
MIRT622912	hsa-miR-3941	HITS-CLIP	23824327
MIRT622916	hsa-miR-8485	HITS-CLIP	23824327
MIRT622915	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT622914	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622913	hsa-miR-603	HITS-CLIP	23824327
MIRT622912	hsa-miR-3941	HITS-CLIP	23824327
MIRT622916	hsa-miR-8485	HITS-CLIP	23824327
MIRT622915	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT622914	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622913	hsa-miR-603	HITS-CLIP	23824327
MIRT622912	hsa-miR-3941	HITS-CLIP	23824327
MIRT655375	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT622916	hsa-miR-8485	HITS-CLIP	23824327
MIRT622913	hsa-miR-603	HITS-CLIP	23824327
MIRT655374	hsa-miR-555	HITS-CLIP	23824327
MIRT622912	hsa-miR-3941	HITS-CLIP	23824327
MIRT622916	hsa-miR-8485	HITS-CLIP	23824327
MIRT622915	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT622914	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622913	hsa-miR-603	HITS-CLIP	23824327
MIRT622912	hsa-miR-3941	HITS-CLIP	23824327
MIRT629599	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT629598	hsa-miR-4801	HITS-CLIP	23824327
MIRT622916	hsa-miR-8485	HITS-CLIP	23824327
MIRT622916	hsa-miR-8485	HITS-CLIP	23824327
MIRT622915	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT622914	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622913	hsa-miR-603	HITS-CLIP	23824327
MIRT622912	hsa-miR-3941	HITS-CLIP	23824327
MIRT1215305	hsa-miR-2052	CLIP-seq
MIRT1215306	hsa-miR-384	CLIP-seq
MIRT1215307	hsa-miR-101	CLIP-seq
MIRT1215308	hsa-miR-1185	CLIP-seq
MIRT1215309	hsa-miR-144	CLIP-seq
MIRT1215310	hsa-miR-3605-5p	CLIP-seq
MIRT1215311	hsa-miR-3679-5p	CLIP-seq
MIRT1215312	hsa-miR-495	CLIP-seq
MIRT1215313	hsa-miR-802	CLIP-seq
MIRT1215314	hsa-miR-1	CLIP-seq
MIRT1215315	hsa-miR-3673	CLIP-seq
MIRT1215316	hsa-miR-4266	CLIP-seq
MIRT1215317	hsa-miR-4695-5p	CLIP-seq
MIRT1215318	hsa-miR-4779	CLIP-seq
MIRT1215319	hsa-miR-4798-5p	CLIP-seq
MIRT1215320	hsa-miR-651	CLIP-seq
MIRT1556752	hsa-miR-147	CLIP-seq
MIRT1556753	hsa-miR-3152-5p	CLIP-seq
MIRT1556754	hsa-miR-3911	CLIP-seq
MIRT1556755	hsa-miR-4304	CLIP-seq
MIRT1556756	hsa-miR-4474-3p	CLIP-seq
MIRT1556757	hsa-miR-644	CLIP-seq
MIRT2290460	hsa-miR-1587	CLIP-seq
MIRT2290461	hsa-miR-216a	CLIP-seq
MIRT2290462	hsa-miR-3115	CLIP-seq
MIRT2290463	hsa-miR-329	CLIP-seq
MIRT2290464	hsa-miR-34c-3p	CLIP-seq
MIRT2290465	hsa-miR-3647-3p	CLIP-seq
MIRT2290466	hsa-miR-4470	CLIP-seq
MIRT2290467	hsa-miR-4492	CLIP-seq
MIRT2290468	hsa-miR-4498	CLIP-seq
MIRT2290469	hsa-miR-4656	CLIP-seq
MIRT2290470	hsa-miR-4675	CLIP-seq
MIRT2290471	hsa-miR-4741	CLIP-seq
MIRT2290472	hsa-miR-4793-3p	CLIP-seq
MIRT2290473	hsa-miR-499-3p	CLIP-seq
MIRT2290474	hsa-miR-499a-3p	CLIP-seq
MIRT2290475	hsa-miR-762	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
POU3F2	Unknown	22290434
STAT3	Repression	19074888
TEAD1	Unknown	21687713

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
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:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9500554
GO:0005515	Function	Protein binding	IPI	11029584, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006915	Process	Apoptotic process	TAS	10871843
GO:0007399	Process	Nervous system development	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0007605	Process	Sensory perception of sound	TAS	9500554
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	8447316
GO:0043565	Function	Sequence-specific DNA binding	IDA	11863357
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11863357
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11863357
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 606597
• HGNC: 8617
• e!Ensembl: ENSG00000135903

Protein

• UniProt ID: P23760
• Protein name: Paired box protein Pax-3 (HuP2)
• Protein function: Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087). {ECO:0000269|PubMed:169511
• PDB: 3CMY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00292	PAX	34 → 159		Domain
  PF00046	Homeodomain	220 → 276	Homeodomain	Domain
  PF12360	Pax7	347 → 391	Paired box protein 7	Family

• Sequence:

  MTTLAGAVPRMMRPGPGQNYPRSGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIV
  EMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPKQVTTPDVEKKIEE
  YKRENPGMFSWEIRDKLLKDAVCDRNTVPSVSSISRILRSKFGKGEEEEADLERKEAEES
  EKKAKHSIDGILSERASAPQSDEGSDIDSEPDLPLKRKQRRSRTTFTAEQLEELERAFER
  THYPDIYTREELAQRAKLTEARVQVWFSNRRARWRKQAGANQLMAFNHLIPGGFPPTAMP
  TLPTYQLSETSYQPTSIPQAVSDPSSTVHRPQPLPPSTVHQSTIPSNPDSSSAYCLPSTR
  HGFSSYTDSFVPPSGPSNPMNPTIGNGLSPQVMGLLTNHGGVPHQPQTDYALSPLTGGLE
  PTTTVSASCSQRLDHMKSLDSLPTSQSYCPPTYSTTGYSMDPVTGYQYGQYGQSKPWTF

• Sequence length: 479

Pathways

KEGG:

Transcriptional misregulation in cancer

Reactome:

HATs acetylate histones

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
Alveolar rhabdomyosarcoma	Pathogenic	rs774528745	RCV002500967	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniofacial-deafness-hand syndrome	Pathogenic; Likely pathogenic	rs2106094950, rs104893652, rs774528745	RCV002250172 RCV000004434 RCV002500967	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs773327091, rs1695336858	RCV001526650 RCV001255326	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ocular albinism with congenital sensorineural hearing loss	Pathogenic	rs1574661904	RCV000856802	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PAX3-related disorder	Likely pathogenic; Pathogenic	rs876657717, rs2469196259, rs2469249189, rs2469252662, rs1356246522	RCV003409933 RCV003405911 RCV003408413 RCV003907351 RCV004731007	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic deafness	Pathogenic; Likely pathogenic	rs876657717, rs1553572967, rs1553572976, rs777297575, rs758136826	RCV000216335 RCV000616546 RCV000606448 RCV000826182 RCV000825626	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg syndrome	Pathogenic; Likely pathogenic	rs2106200388, rs267606931, rs876657717, rs1553572967, rs1380858784, rs1553593928	RCV004798915 RCV001375270 RCV000216335 RCV000616546 RCV004808837 RCV004794431	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg syndrome type 1	Pathogenic; Likely pathogenic	rs780660984, rs2106204266, rs2106200406, rs1279989885, rs2106200388, rs2106196576, rs2106203654, rs2106203892, rs2106074603, rs2106095147, rs2106095025, rs2469285416, rs1559320436, rs104893650, rs1559320252, rs2469485870, rs1559316535, rs587776586, rs1559318562, rs104893651, rs267606931, rs876657717, rs876661317, rs886041319, rs774528745, rs1057524511, rs1695251013, rs387906947, rs1559316542, rs1553575159, rs1553575179, rs1553592766, rs1553593965, rs1419548558, rs773327091, rs772241382, rs1553572967, rs1553572976, rs147111779, rs1559320299, rs1553568831, rs369886550, rs1553572740, rs1553572946, rs1380858784, rs1228590199, rs1553575157, rs1553575191, rs1553592703, rs1553592713, rs1553592757, rs1553593874, rs777297575, rs1553593917, rs1553593928, rs1356246522, rs1553594009, rs1553594069, rs1574646155, rs1574771535, rs1574772091, rs1695336858, rs1692180906, rs1692619812, rs769650688, rs1692623308, rs1695337485, rs483353059, rs1695346408	RCV001353097 RCV001353098 RCV001375040 RCV001375038 RCV001822881 RCV001729953 RCV001729951 RCV001728007 RCV002223101 RCV002246165 RCV002250845 RCV002287291 RCV000004425 RCV000004426 RCV000004427 RCV000004428 RCV000004429 RCV000004430 RCV000004431 RCV000004433 RCV000004438 RCV005051764 RCV000223708 RCV000660215 RCV000660219 RCV003327322 RCV003445432 RCV003448549 RCV000023560 RCV000023561 RCV000626394 RCV000626391 RCV000626395 RCV000626393 RCV000626390 RCV000626396 RCV000626392 RCV001290145 RCV000987039 RCV005056329 RCV000721952 RCV000721953 RCV000660224 RCV000660223 RCV000660222 RCV000660221 RCV000660218 RCV000660217 RCV000660216 RCV000660213 RCV000660212 RCV000660210 RCV000660209 RCV000660206 RCV000660205 RCV000660203 RCV000660201 RCV000660200 RCV000660199 RCV000660198 RCV000984878 RCV000987040 RCV001027516 RCV001253125 RCV001290149 RCV001290148 RCV001290147 RCV001290146 RCV001290144 RCV001290143 RCV001290154	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg syndrome type 3	Pathogenic; Likely pathogenic	rs2106074565, rs104893651, rs104893653, rs1559318494, rs104893654, rs774528745, rs1419548558, rs772241382, rs777297575	RCV001375039 RCV000004432 RCV000004435 RCV000004436 RCV000004437 RCV002500967 RCV002294350 RCV001335583 RCV000660204	★★★★★ 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
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL PRECOCIOUS PUBERTY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL HAND DEFORMITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL DEAFNESS HAND SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLEINS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECT, FOLATE-SENSITIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOMYOSARCOMA 2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOMYOSARCOMA, ALVEOLAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
WAARDENBURG SYNDROME, TYPE 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 3	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory rib	Accessory Rib	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrania	Acrania	CTD_human_DG	12739027, 12854658, 3293260		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	31426421		★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	29863547		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	10770948, 11590174, 9615731		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	BEFREE	23283078		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GWASCAT_DG	28196072		★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	8630497		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	10393185, 10439042, 10616906, 10718207, 10866659, 11059777, 11556833, 11735247, 11863357, 12039929, 12183429, 12401804, 14697639, 15184910, 15489287, 15838707, 16077930, 16140913, 16381018, 16607381, 16645206, 17097083, 17297479, 17490646, 17527077, 18022385, 18303411, 18335505, 18973919, 19008039, 19047133, 19145202, 19175284, 19199574, 19478459, 19704258, 19893043, 19904978, 19953635, 20453878, 20663909, 21177767, 21220470, 21254373, 21321994, 21421465, 21440083, 21882254, 22037868, 22374423, 22447499, 22533991, 22710718, 23079386, 23432728, 23645752, 23733015, 23797277, 23799156, 23814486, 24113309, 24334454, 24427371, 24486246, 24614150, 25398439, 25659124, 25912319, 26008753, 26316324, 26355893, 26371783, 27261335, 27588498, 27760049, 27799565, 27864345, 28615069, 28883017, 29146205, 29277758, 29367756, 29730428, 29861864, 30190424, 31099166, 31113472, 31299267, 7530783, 7536457, 7545913, 7624119, 7630639, 7744814, 7782066, 7862145, 8098985, 8275086, 8634710, 8643596, 8789435, 8875708, 8917562, 8943815, 9223312, 9294613, 9405676, 9530337, 9721857, 9823299		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	LHGDN	12039929, 15140004, 16952014, 17285543		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	GENOMICS_ENGLAND_DG	25768946, 9500554		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer Disease	Alzheimer disease	Pubtator	25114068	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	31832874		★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	BEFREE	1347148, 7981748		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	26497896	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	28069802		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	35879366	Associate	★☆☆☆☆ Found in Text Mining only
Atresia of nasolacrimal duct	Atresia Of Nasolacrimal Duct	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30394313		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	12070244		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	12070244	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant contiguous gene syndrome	Contiguous gene syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	18937276		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Stem Glioma	Brain Stem Glioma	BEFREE	25330836, 27432276, 29937714		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28747748	Associate	★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	28576418		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15184910, 26355893, 33627785	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16435073		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	31823759	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31823759		★☆☆☆☆ Found in Text Mining only
Carpal synostosis	Carpal synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31302815		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31302815		★☆☆☆☆ Found in Text Mining only
Childhood Ganglioglioma	Ganglioglioma	BEFREE	28069802		★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	29863547		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	10770948, 11590174, 9615731		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	19142206	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31510946		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31510946	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	7951321		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	BEFREE	28786179		★☆☆☆☆ Found in Text Mining only
Congenital Hand Deformities	Congenital anomaly of the hand	CTD_human_DG	14556253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital meningocele	Congenital Meningocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital musculoskeletal anomalies	Congenital Musculoskeletal Anomalies	BEFREE	11683776		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	CTD_human_DG	7556916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	BEFREE	10320095		★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	36989619	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial deafness hand syndrome	Craniofacial Deafness Hand Syndrome	CTD_human_DG	18553554		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial deafness hand syndrome	Craniofacial deafness hand syndrome	Pubtator	18553554	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial deafness hand syndrome	Craniofacial Deafness Hand Syndrome	GENOMICS_ENGLAND_DG	30173992, 6859126, 9500554		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial deafness hand syndrome	Craniofacial Deafness Hand Syndrome	BEFREE	8664898		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial deafness hand syndrome	Craniofacial Deafness Hand Syndrome	UNIPROT_DG	8664898		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial deafness hand syndrome	Craniofacial Deafness Hand Syndrome	ORPHANET_DG	8664898		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial deafness hand syndrome	Craniofacial Deafness Hand Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial-deafness-hand syndrome	Craniofacial-Deafness-Hand Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniorachischisis	Craniorachischisis	CTD_human_DG	12739027, 12854658, 3293260		★☆☆☆☆ Found in Text Mining only
Cranioschisis	Anencephaly	CTD_human_DG	7556916		★☆☆☆☆ Found in Text Mining only
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	12647804, 16316407		★☆☆☆☆ Found in Text Mining only
Deaf Mutism	Deafness	CTD_human_DG	14556253		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	20664692, 22341974, 36989619	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Acquired	Deafness	CTD_human_DG	14556253		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic Tumor	BEFREE	24486246, 9344317		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	24517889	Associate	★☆☆☆☆ Found in Text Mining only
Diastematomyelia	Diastematomyelia	CTD_human_DG	12739027, 12854658, 3293260		★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	26806352		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	27345603	Associate	★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	29630524	Inhibit	★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	BEFREE	16397144		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	30626726		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	10718207, 12647804, 15313887, 15602708, 18335505, 19215790, 19478459, 19953635, 24213582, 24486246, 24614150, 24793135, 9530337		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	LHGDN	15184910, 15602708, 17285543		★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	BEFREE	28786179		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	22231626		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	31823759		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	11221862, 17431644, 7887445, 9169092		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	24486246, 9169092		★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	CTD_human_DG	12739027, 12854658, 3293260		★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	BEFREE	28381738		★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	18753144		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	27730449		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	28069802		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	BEFREE	21708825		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29937714		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29937714		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22231626, 25330836, 27432276, 29937714, 30662807, 30826985, 31167206, 31352198		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	32168437	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	36329483	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	1670751	Stimulate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	37017887	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	27338454		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	11032856, 23283078, 30616633, 7634536, 7643365, 7802041, 8877363		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	30616633, 7643365	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	28686331		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	26738858		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30626726	Associate	★☆☆☆☆ Found in Text Mining only
Iniencephaly	Anencephaly	CTD_human_DG	12739027, 12854658, 3293260		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	15200507		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	BEFREE	9302254		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	31628846	Associate	★☆☆☆☆ Found in Text Mining only
Klein`s Syndrome	Klein`s Syndrome	ORPHANET_DG	12949970, 7726174, 8447316		★☆☆☆☆ Found in Text Mining only
Klein`s Syndrome	Klein`s Syndrome	UNIPROT_DG	12949970, 7726174, 8447316		★☆☆☆☆ Found in Text Mining only
Klein`s Syndrome	Klein`s Syndrome	CLINGEN_DG	15729346, 18983540, 20095975, 25932447, 27759048, 28043919, 28381738, 28690861, 30314436, 7897628		★☆☆☆☆ Found in Text Mining only
Klein`s Syndrome	Klein`s Syndrome	CTD_human_DG	18553554		★☆☆☆☆ Found in Text Mining only
Klein`s Syndrome	Klein`s Syndrome	GENOMICS_ENGLAND_DG	30173992, 8447316, 9500554		★☆☆☆☆ Found in Text Mining only
Klein`s Syndrome	Klein`s Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22337624, 9156651		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	24565836		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	9156651		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	15184910		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16435073		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25653235, 29630524, 31383772, 31847528		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11059777, 11164187, 17318653, 18022385, 19893043, 20663909, 27432276, 27864345, 28069802, 29146205, 29730428, 29937714, 30373318, 30394313, 31186709, 31285436, 31302815, 31847528, 9405676		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	29863547		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31302815		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	10770948, 11590174, 9615731		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	20421967, 23751107		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10644012, 11221862, 14639621, 15614040, 15956257, 18327212, 18627422, 18982394, 19401874, 20421967, 20925909, 21802410, 22231626, 22679108, 22988297, 23020925, 23751107, 26205821, 26252164, 26329581, 26977879, 31186709		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15226334, 15817820, 16116595, 17611626, 20067553, 20371696, 20421967, 20925909, 22679108, 23344460, 25880082, 26252164, 26384656, 26489459, 26977879, 28857256, 29545604, 30277012, 33204327	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	16316407, 16951170, 18327212		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	9482647		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	15200507		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	22934821, 28857256		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	10644012		★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	31353225		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	28637492		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10393185, 10718207, 10866659, 11059777, 11221862, 12039929, 12242297, 12414908, 12647804, 15489287, 15602708, 15688409, 16287709, 16381018, 16435073, 17311532, 17986608, 18335505, 18391632, 18666806, 19047133, 19295433, 19704258, 19893043, 20019182, 20453878, 20663909, 21177767, 21254373, 22231626, 23079386, 23814486, 24149177, 24213582, 25330836, 25368019, 25398439, 25806826, 26329581, 27323832, 27588498, 28138962, 28341828, 28978033, 29266774, 29367756, 29461635, 30565669, 30592181, 30739374, 30829729, 31186709, 31493794, 31847528, 8875239, 9098647, 9164192, 9169092, 9721857		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	18666806		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	10332959, 15329829, 17149730, 18753144, 19180568, 24565836, 24753315, 26738858, 28043919, 28686331, 28786179, 30665459, 31636139, 7726174, 7783169, 7897628, 9482647, 9641914		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	LHGDN	12739027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	CTD_human_DG	12739027, 12854658, 3293260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural tube defect	Pubtator	17149730, 7783169, 7897628, 8863157	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurenteric Cyst	Neurenteric Cyst	CTD_human_DG	12739027, 12854658, 3293260		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18627422, 24188742, 28069802		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	24188742	Associate	★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumors	Neuroectodermal Tumors	BEFREE	14639621		★☆☆☆☆ Found in Text Mining only
Nevi and Melanomas	Congenital melanocytic nevus syndrome	BEFREE	18327212		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	23751107		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32555314	Associate	★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15688035, 27859625, 30666838		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	30587501, 30666838	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	32571297	Associate	★☆☆☆☆ Found in Text Mining only
Piebaldism	Piebaldism	BEFREE	1952586, 7802041		★☆☆☆☆ Found in Text Mining only
Piebaldism	Piebaldism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	14556253		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	23000144		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22829758	Associate	★☆☆☆☆ Found in Text Mining only
Rachischisis	Rachischisis	CTD_human_DG	12854658, 17149730, 3902948, 6385329		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	10191090, 10393185, 10718207, 10871843, 11221862, 11863357, 12039929, 12239174, 12242297, 12394275, 12550764, 12865925, 15313887, 15492844, 15602708, 15688409, 16116481, 16337856, 16365729, 17081294, 17334332, 17350164, 17431644, 17471488, 18391632, 18457914, 18627422, 18708938, 19047133, 19295433, 19953635, 20068066, 20663909, 22231626, 22330340, 22454413, 22504834, 22564868, 23079386, 23435416, 23526739, 24149177, 24213582, 24292683, 24797362, 25368019, 25806826, 25810375, 26179572, 26199390, 26209235, 26482321, 27488535, 27799565, 27864345, 27984116, 28035744, 28069802, 28138962, 28378394, 28446439, 28615069, 29461635, 29869612, 30190424, 30307360, 30373318, 30459282, 31113472, 31325529, 31480361, 31493794, 31824851, 7527137, 7536457, 7862145, 9164192, 9546061, 9721857, 9766674		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	11556833, 17334332, 19953635, 20068066, 20663909, 22089931, 22330340, 22447499, 23435416, 25155056, 25768946, 25806826, 26226845, 27799565, 28069802, 28615069, 29461635, 30793977, 31480361, 31493794, 32697014, 33372065, 33627785, 34285060, 34697065, 34836971, 34850536, 35857643, 35879366, 36719455, 37732905, 37858275, 7527137, 7887445	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	LHGDN	15313887, 15688409, 17638879, 18988640		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	10393185, 10666368, 10700864, 11556833, 12239174, 15184910, 15838707, 16645206, 16849537, 18973919, 19039198, 19442434, 19953635, 19995556, 20068066, 20663909, 21321994, 21666686, 22447499, 22533991, 23469153, 23733015, 24427371, 24517889, 24551291, 24797362, 26355893, 27413008, 27799565, 28615069, 31285436, 31870357, 32087612, 32144381, 32532875, 33368602, 33523558, 34552155, 35813575, 35857643, 35879366, 36229873, 36232302, 37315267, 37732905, 38102136, 7495283, 7782066, 8789435, 9223312, 9530337	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	10666368, 15184910	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	22337624, 24334454, 24859338, 26355893, 27588498, 28378394, 29730428, 7536457		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	CTD_human_DG	24859338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	25300797, 33372065	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	24517889	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma, Epithelioid	Sarcoma	CTD_human_DG	24859338		★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	CTD_human_DG	24859338		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	26279250		★☆☆☆☆ 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
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	9541113		★☆☆☆☆ Found in Text Mining only
Sinonasal undifferentiated carcinoma	Sinonasal undifferentiated carcinoma	CTD_human_DG	24859338		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	14639621, 16435073, 19139719		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	14697639, 9344317		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 23	Spastic paraplegia	Pubtator	22341974	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	CTD_human_DG	12854658, 17149730, 3902948, 6385329		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	15200507, 17149730, 17623803, 23223018, 23913553, 24753315, 28786179, 7897628		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Cord Myelodysplasia	Spinal Cord Myelodysplasia	CTD_human_DG	12739027, 12854658, 3293260		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	15639120		★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Dysraphicus	Status Dysraphicus	CTD_human_DG	12854658, 17149730, 3902948, 6385329		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25653235, 29630524, 31383772, 31847528		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29630524	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	28861346		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Supernumerary vertebra	Supernumerary Vertebra	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	19214114, 30416685		★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	CTD_human_DG	12739027, 12854658, 3293260		★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	16397144		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	24753315		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31302815	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg Anophthalmia Syndrome	Microphthalmia with limb anomalies	ORPHANET_DG	12949970, 7726174, 8447316		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg syndrome	Pubtator	10536986, 12070244, 15635834, 16638435, 1670751, 16971891, 17149730, 20664692, 22341974, 22876130, 23378733, 25932447, 27759048, 29115496, 29630160, 29792164, 30314436, 30936914, 31190477, 32168437, 32571297, 32908492, 33557787, 33774334, 36329483, 36331148, 36989619, 7643365, 7726174, 7782066, 7783169, 7825605, 7897628, 7942851, 8486353, 8571965, 9541113	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg Syndrome	Waardenburg Syndrome	BEFREE	10982026, 11032856, 12949970, 1347148, 1347149, 16971891, 17149730, 17627390, 18325909, 18627422, 19199574, 21965087, 22320238, 22341974, 23378733, 25928000, 25932447, 26149688, 26275939, 27759048, 28043919, 28381738, 28861346, 29224756, 29287868, 29730428, 7590754, 7782066, 7802041, 7897628, 7942851, 7981674, 7981748, 8019556, 8098985, 8449034, 8490648, 8533800, 8589691, 8630497, 8786127, 8799378, 9017978, 9021013, 9192262, 9302254, 9500554, 9584079, 9654197		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg Syndrome	Waardenburg Syndrome	LHGDN	12666593, 17627390		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg Syndrome	Waardenburg Syndrome	CLINVAR_DG	1349198, 26512583, 8533800, 8589691, 9017978, 9654197		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg Syndrome	Waardenburg Syndrome	CLINGEN_DG	15729346, 18983540, 20095975, 25932447, 27759048, 28043919, 28381738, 28690861, 30314436, 7897628		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg Syndrome	Waardenburg Syndrome	CTD_human_DG	18553554		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg Syndrome	Waardenburg Syndrome	GENOMICS_ENGLAND_DG	8447316		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg Syndrome Type 1	Waardenburg Syndrome	BEFREE	10779847, 11683776, 1303193, 1303207, 1303254, 16971891, 17254487, 20664692, 23163891, 23378733, 24565836, 26275939, 26279250, 26824486, 27031059, 28502583, 28686331, 29158168, 29224756, 29287868, 29792164, 30314436, 31190477, 7545913, 7634536, 7643365, 7783169, 7802041, 7825605, 7909605, 7981674, 8019556, 8447316, 8449034, 8486353, 8490648, 8533800, 8571965, 8664898, 8786127, 8799378, 8845842, 8877363, 9017978, 9232624, 9541113		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg Syndrome Type 1	Waardenburg Syndrome	UNIPROT_DG	10779847, 12949970, 1303193, 1347148, 1347149, 16971891, 20478267, 21965087, 7825605, 7833953, 7981674, 8447316, 8490648, 8533800, 8589691, 8845842, 9067759, 9452070, 9541113		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg Syndrome Type 1	Waardenburg Syndrome	CLINGEN_DG	15729346, 18983540, 20095975, 25932447, 27759048, 28043919, 28381738, 28690861, 30314436, 7897628		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg Syndrome Type 1	Waardenburg Syndrome	CTD_human_DG	18553554		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg syndrome type 1	Waardenburg Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg Syndrome Type 1	Waardenburg Syndrome	CLINVAR_DG	29407415		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg Syndrome Type 1	Waardenburg Syndrome	GENOMICS_ENGLAND_DG	30173992, 6859126, 8447316, 9500554		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg syndrome type 2	Waardenburg syndrome	Pubtator	10536986	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome Type 2	Waardenburg Syndrome	BEFREE	21965087, 22320238, 9584079		★☆☆☆☆ Found in Text Mining only
Waardenburg syndrome type 3	Waardenburg Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	BEFREE	7643365		★☆☆☆☆ Found in Text Mining only
WAARDENBURG SYNDROME, TYPE IIA	Waardenburg syndrome	BEFREE	22320238		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	32168437, 7643365, 7726174	Associate	★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome	Wolfram Syndrome	BEFREE	20972738		★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome	Wolfram syndrome	Pubtator	35206658	Associate	★☆☆☆☆ Found in Text Mining only