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
• Disease Acronyms (UniProt): CDHS, 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	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9500554
GO:0005515	Function	Protein binding	IPI	11029584
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006915	Process	Apoptotic process	TAS	10871843
GO:0007399	Process	Nervous system development	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0007605	Process	Sensory perception of sound	TAS	9500554
GO:0009887	Process	Animal organ morphogenesis	TAS	8447316
GO:0043565	Function	Sequence-specific DNA binding	IDA	11863357
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	11863357
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11863357
GO:0048856	Process	Anatomical structure development	IBA	21873635
GO:0071837	Function	HMG box domain binding	IEA
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

Causal
Disease term	Disease name	dbSNP ID	References
Anencephaly	Iniencephaly, Cranioschisis, Exencephaly	rs773607884	3293260, 12854658, 12739027, 7556916
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Craniofacial-deafness-hand syndrome	Craniofacial-deafness-hand syndrome	rs104893652
Deafness	Prelingual Deafness, Deafness, Acquired, Deaf Mutism	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs998045226, rs375759781, rs1567658710, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs760413427, rs773861155, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854	14556253
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Microphthalmia with limb anomalies	Waardenburg Anophthalmia Syndrome	rs376672665, rs863223317, rs751356341, rs1114167455, rs1566709754, rs1566709825, rs1365818420, rs1326644602, rs370866589	7726174, 8447316, 12949970
Neural tube defect	Neural Tube Defects	rs121434297, rs137853061, rs137853062, rs768434408, rs777661576, rs747846362, rs200137991, rs780014899, rs574132670, rs786204013, rs147257424, rs763539350, rs776483190, rs781461462, rs1114167354, rs147277149, rs765586205, rs377443637, rs986604359, rs1293600145, rs114727354, rs768980918, rs140277700, rs139645527, rs750323424, rs368321176, rs1579619636, rs893229476, rs754990692, rs763079713, rs1593037878, rs747100389, rs372056091, rs1593083585, rs778121031, rs748778907, rs776969786, rs1189298981, rs375908206, rs1734858651, rs778738842	12854658, 3293260, 12739027
Piebaldism	Piebaldism	rs121913679, rs794726672, rs794726673, rs121913680, rs794726674, rs794726675, rs121913684, rs121913687, rs28933371, rs387907217, rs1560419312, rs1560418178
Sarcoma	Sarcoma, Epithelioid, Sarcoma, Spindle Cell, Sarcoma	rs11540652, rs104886003, rs137852790, rs1555927374	24859338
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spastic paraplegia	Spastic Paraplegia	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464
Waardenburg syndrome	Waardenburg Syndrome Type 1, Waardenburg Syndrome, Waardenburg syndrome type 3, Waardenburg syndrome type 1	rs1559320436, rs104893650, rs1559320252, rs1559316535, rs587776586, rs1559318562, rs104893651, rs104893653, rs1559318494, rs104893654, rs267606931, rs74315514, rs73415876, rs397515366, rs397515367, rs74315515, rs281797260, rs74315520, rs1555939381, rs397515369, rs121909117, rs397515370, rs267607081, rs1553701477, rs1553703612, rs1553704814, rs104893744, rs1553705282, rs104893746, rs104894388, rs104894390, rs104894391, rs1568823517, rs74315384, rs74315385, rs267606778, rs267606779, rs397515386, rs397515387, rs387906947, rs1559316542, rs397515457, rs483353057, rs876657717, rs876657699, rs876661317, rs878853234, rs886041319, rs774528745, rs1057517966, rs1057518765, rs1057518656, rs1057519325, rs1057519326, rs1057519327, rs1057521096, rs1064796049, rs1064797294, rs1553575159, rs1553575179, rs1553592766, rs1553593965, rs1419548558, rs773327091, rs1553702006, rs1555937398, rs1555938422, rs1555939415, rs1555939564, rs772241382, rs1553704841, rs1555937390, rs1553572967, rs1553572976, rs1555939408, rs1569167586, rs1555938395, rs1555939491, rs768126403, rs1569167607, rs1559749017, rs147682682, rs147111779, rs1559320299, rs1553704086, rs1236436555, rs1553568831, rs369886550, rs1553572740, rs1553572946, rs1380858784, rs1228590199, rs1553575157, rs1553575191, rs1553592703, rs1553592713, rs1553592757, rs1553593874, rs777297575, rs1553593917, rs1553593928, rs1356246522, rs1553594009, rs1553594069, rs1553702406, rs1553704097, rs1553704850, rs1555290659, rs1458799604, rs977075341, rs1555937395, rs1555937400, rs1555937463, rs763210407, rs1373797370, rs1555939403, rs1555939421, rs1555939426, rs1555939459, rs1555939460, rs1555939476, rs1555939523, rs1569169328, rs1569169289, rs1569167515, rs1601886662, rs1574646155, rs1574771535, rs1932141204, rs1601878540, rs1576047519, rs1601878759, rs1574772091, rs1932477493	8589691, 1347149, 18983540, 30173992, 21965087, 25932447, 9067759, 30314436, 28690861, 12949970, 9500554, 6859126, 7833953, 15729346, 28381738, 9541113, 8447316, 27759048, 9452070, 29407415, 18553554, 1347148, 1303193, 8490648, 8845842, 7897628, 10779847, 7981674, 28043919, 7825605, 8533800, 20095975, 20478267, 16971891, 1349198, 9017978, 26512583, 9654197

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Waardenburg Syndrome	Waardenburg syndrome type 3, Waardenburg syndrome			GenCC
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	25114068
Arm Injuries	Associate	34389744
Astrocytoma	Associate	26497896
Ataxia Telangiectasia	Associate	35879366
Autistic Disorder	Associate	12070244
Breast Neoplasms	Associate	28747748
Calcinosis Cutis	Associate	22089931
Carcinogenesis	Associate	15184910, 26355893, 33627785
Carcinoma Ovarian Epithelial	Associate	31823759
Chromosome Aberrations	Associate	7942851
Cleft Palate	Associate	19142206
Colorectal Neoplasms	Associate	31510946
Craniofacial Abnormalities	Associate	36989619
Craniofacial deafness hand syndrome	Associate	18553554
Deafness	Associate	20664692, 22341974, 36989619
Desmoplastic Small Round Cell Tumor	Associate	24517889
DiGeorge Syndrome	Associate	27345603
Distal myopathy Nonaka type	Inhibit	29630524
Fibrosarcoma	Associate	24517889
Glycogen Storage Disease Type IV	Associate	32168437
Glycosuria Renal	Associate	36329483
Hearing Loss	Stimulate	1670751
Hearing Loss	Associate	37017887
Hearing Loss Unilateral	Associate	36329483
Hernias Diaphragmatic Congenital	Associate	25736269
Hirschsprung Disease	Associate	30616633, 7643365
Holt Oram syndrome	Associate	18553554
Hypoxia	Associate	30626726
Immunoglobulin G4 Related Disease	Associate	15184910, 19442434, 19995556, 20068066
Kallmann Syndrome	Associate	31628846
Malignant Teratocarcinosarcoma	Associate	24859338, 26355893, 26371783, 27137987, 30829729, 34697065, 36719455, 37077095
Melanoma	Associate	15226334, 15817820, 16116595, 17611626, 20067553, 20371696, 20421967, 20925909, 22679108, 23344460, 25880082, 26252164, 26384656, 26489459, 26977879, 28857256, 29545604, 30277012, 33204327
Meningomyelocele	Associate	7897628
Mental Disorders	Associate	35206658
Musculoskeletal Abnormalities	Associate	18553554
Myocardial Bridging	Associate	22341974
Myopathies Structural Congenital	Associate	27345603
Neoplasm Metastasis	Associate	22533991, 31510946
Neoplasms	Associate	15184910, 16036108, 16435141, 20663909, 24149177, 28069802, 30666838, 31285436, 31302815, 31823759, 34697065, 35087134, 37041565, 37732905, 7527137
Neoplasms	Stimulate	25806826
Neural Tube Defects	Associate	17149730, 7783169, 7897628, 8863157
Neuroblastoma	Associate	24188742
Neuroectodermal Tumors	Associate	16036108
Nevus Pigmented	Associate	20421967
Obesity	Associate	32555314
Osteosarcoma	Associate	30587501, 30666838
Perinatal Death	Associate	7726174
Pheochromocytoma	Associate	32571297
Pigmentation Disorders	Associate	36989619
Pre Eclampsia	Inhibit	30626726
Pulmonary Disease Chronic Obstructive	Associate	22829758
Retinal Dysplasia	Associate	16164832
Retinal Vein Occlusion	Associate	30314436
Rhabdomyosarcoma	Associate	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
Rhabdomyosarcoma Alveolar	Associate	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
Rhabdomyosarcoma Embryonal	Associate	10666368, 15184910
Sarcoma	Associate	25300797, 33372065
Sarcoma Ewing	Associate	24517889
Septo Optic Dysplasia	Associate	9541113
Spastic paraplegia 23	Associate	22341974
Spinal Dysraphism	Associate	17149730, 23913553, 7897628
Stomach Neoplasms	Associate	29630524
Tongue Diseases	Associate	16164832
Upton Young syndrome	Associate	20421967
Uterine Cervical Neoplasms	Associate	31302815
Uterine Cervicitis	Associate	31302815
Waardenburg Syndrome	Associate	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
Waardenburg syndrome type 2	Associate	10536986
Williams Syndrome	Associate	32168437, 7643365, 7726174
Wolfram Syndrome	Associate	35206658