HOXD13 (homeobox D13)

Gene

• Entrez ID: 3239
• Gene name: Homeobox D13
• Gene symbol: HOXD13
• Synonyms (NCBI Gene): BDE, BDSD, HOX4I, SPD, SPD1
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene cluster

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28928891	A>C,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs28928892	C>A,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs28933082	C>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs104893635	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs121912541	G>A,C,T	Pathogenic	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs200750564	C>T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, stop gained
rs536639583	G>C	Pathogenic, uncertain-significance	Intron variant, downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs749985629	CAA>-	Likely-pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs764838478	A>-	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs875989842	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs878854343	CAGCACCCACGCCT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs878854344	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs878854345	->GGCTGCGGCGGCGGCAGCGGC	Pathogenic	Genic downstream transcript variant, coding sequence variant, inframe insertion, intron variant
rs878854346	AGCGGCGGCTGCGGCGGCGGC>-,AGCGGCGGCTGCGGCGGCGGCAGCGGCGGCTGCGGCGGCGGC	Pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, inframe insertion, inframe deletion
rs878854400	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, intron variant
rs879255265	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs886037831	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant, intron variant
rs1574943406	GCCA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027146	hsa-miR-103a-3p	Sequencing	20371350
MIRT051222	hsa-miR-16-5p	CLASH	23622248
MIRT047651	hsa-miR-10a-5p	CLASH	23622248
MIRT045586	hsa-miR-149-5p	CLASH	23622248
MIRT042641	hsa-miR-423-3p	CLASH	23622248
MIRT052694	hsa-miR-1260b	CLASH	23622248
MIRT557014	hsa-miR-3936	PAR-CLIP	20371350
MIRT086201	hsa-miR-329-5p	PAR-CLIP	20371350
MIRT086205	hsa-miR-922	PAR-CLIP	20371350
MIRT086202	hsa-miR-488-5p	PAR-CLIP	20371350
MIRT086204	hsa-miR-298	PAR-CLIP	20371350
MIRT557013	hsa-miR-6721-5p	PAR-CLIP	20371350
MIRT299542	hsa-miR-92a-1-5p	PAR-CLIP	20371350
MIRT299543	hsa-miR-3147	PAR-CLIP	20371350
MIRT557012	hsa-miR-1303	PAR-CLIP	20371350
MIRT557014	hsa-miR-3936	PAR-CLIP	21572407
MIRT086212	hsa-miR-6783-5p	PAR-CLIP	21572407
MIRT086201	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT086205	hsa-miR-922	PAR-CLIP	21572407
MIRT086202	hsa-miR-488-5p	PAR-CLIP	21572407
MIRT086204	hsa-miR-298	PAR-CLIP	21572407
MIRT086211	hsa-miR-6077	PAR-CLIP	21572407
MIRT557013	hsa-miR-6721-5p	PAR-CLIP	21572407
MIRT086207	hsa-miR-4271	PAR-CLIP	21572407
MIRT086209	hsa-miR-4725-3p	PAR-CLIP	21572407
MIRT086213	hsa-miR-6780b-5p	PAR-CLIP	21572407
MIRT299542	hsa-miR-92a-1-5p	PAR-CLIP	21572407
MIRT299543	hsa-miR-3147	PAR-CLIP	21572407
MIRT557012	hsa-miR-1303	PAR-CLIP	21572407
MIRT557014	hsa-miR-3936	PAR-CLIP	20371350
MIRT086201	hsa-miR-329-5p	PAR-CLIP	20371350
MIRT086205	hsa-miR-922	PAR-CLIP	20371350
MIRT086202	hsa-miR-488-5p	PAR-CLIP	20371350
MIRT086204	hsa-miR-298	PAR-CLIP	20371350
MIRT557013	hsa-miR-6721-5p	PAR-CLIP	20371350
MIRT299542	hsa-miR-92a-1-5p	PAR-CLIP	20371350
MIRT299543	hsa-miR-3147	PAR-CLIP	20371350
MIRT557012	hsa-miR-1303	PAR-CLIP	20371350
MIRT557014	hsa-miR-3936	PAR-CLIP	21572407
MIRT086212	hsa-miR-6783-5p	PAR-CLIP	21572407
MIRT086201	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT086205	hsa-miR-922	PAR-CLIP	21572407
MIRT086202	hsa-miR-488-5p	PAR-CLIP	21572407
MIRT086204	hsa-miR-298	PAR-CLIP	21572407
MIRT086211	hsa-miR-6077	PAR-CLIP	21572407
MIRT557013	hsa-miR-6721-5p	PAR-CLIP	21572407
MIRT086207	hsa-miR-4271	PAR-CLIP	21572407
MIRT086209	hsa-miR-4725-3p	PAR-CLIP	21572407
MIRT086213	hsa-miR-6780b-5p	PAR-CLIP	21572407
MIRT299542	hsa-miR-92a-1-5p	PAR-CLIP	21572407
MIRT299543	hsa-miR-3147	PAR-CLIP	21572407
MIRT557012	hsa-miR-1303	PAR-CLIP	21572407
MIRT1053768	hsa-miR-1264	CLIP-seq
MIRT1053769	hsa-miR-1297	CLIP-seq
MIRT1053770	hsa-miR-26a	CLIP-seq
MIRT1053771	hsa-miR-26b	CLIP-seq
MIRT1053772	hsa-miR-3124-3p	CLIP-seq
MIRT1053773	hsa-miR-3201	CLIP-seq
MIRT1053774	hsa-miR-3940-5p	CLIP-seq
MIRT1053775	hsa-miR-4272	CLIP-seq
MIRT1053776	hsa-miR-4465	CLIP-seq
MIRT1053777	hsa-miR-4507	CLIP-seq
MIRT1053778	hsa-miR-4791	CLIP-seq
MIRT1053779	hsa-miR-548aa	CLIP-seq
MIRT1053780	hsa-miR-570	CLIP-seq
MIRT2012204	hsa-miR-511	CLIP-seq
MIRT2244586	hsa-miR-183	CLIP-seq
MIRT2244587	hsa-miR-4282	CLIP-seq
MIRT2244588	hsa-miR-4670-3p	CLIP-seq
MIRT2244589	hsa-miR-4719	CLIP-seq
MIRT2244590	hsa-miR-513b	CLIP-seq

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:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	24789103
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	TAS	8614804
GO:0003677	Function	DNA binding	IDA	26581570
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8614804
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	9207113
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0022612	Process	Gland morphogenesis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030539	Process	Male genitalia development	IEA
GO:0030850	Process	Prostate gland development	IEA
GO:0033574	Process	Response to testosterone	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	24789103
GO:0048619	Process	Embryonic hindgut morphogenesis	IEA
GO:0060527	Process	Prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis	IEA
GO:0060571	Process	Morphogenesis of an epithelial fold	IEA
GO:0060602	Process	Branch elongation of an epithelium	IEA
GO:0060687	Process	Regulation of branching involved in prostate gland morphogenesis	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

Other IDs

• MIM: 142989
• HGNC: 5136
• e!Ensembl: ENSG00000128714

Protein

• UniProt ID: P35453
• Protein name: Homeobox protein Hox-D13 (Homeobox protein Hox-4I)
• Protein function: Sequence-specific transcription factor that binds gene promoters and activates their transcription (PubMed:24789103). Part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12284	HoxA13_N	79 → 181	Hox protein A13 N terminal	Family
  PF00046	Homeodomain	277 → 333	Homeodomain	Domain

• Sequence:

  MSRAGSWDMDGLRADGGGAGGAPASSSSSSVAAAAASGQCRGFLSAPVFAGTHSGRAAAA
  AAAAAAAAAAASGFAYPGTSERTGSSSSSSSSAVVAARPEAPPAKECPAPTPAAAAAAPP
  SAPALGYGYHFGNGYYSCRMSHGVGLQQNALKSSPHASLGGFPVEKYMDVSGLASSSVPA
  NEVPARAKEVSFYQGYTSPYQHVPGYIDMVSTFGSGEPRHEAYISMEGYQSWTLANGWNS
  QVYCTKDQPQGSHFWKSSFPGDVALNQPDMCVYRRGRKKRVPYTKLQLKELENEYAINKF
  INKDKRRRISAATNLSERQVTIWFQNRRVKDKKIVSKLKDTVS

• Sequence length: 343

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
Brachydactyly type D	Pathogenic; Likely pathogenic	rs28928891, rs200750564, rs1574943406	RCV000015996 RCV002502445 RCV000850561	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly type E	Pathogenic	rs28928891	RCV004562212	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly type E1	Likely pathogenic; Pathogenic	rs28933082, rs200750564, rs1574943406	RCV003450643 RCV002502445 RCV000850561	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly-syndactyly syndrome	Likely pathogenic; Pathogenic	rs771082552, rs878854346, rs200750564	RCV005414338 RCV000016003 RCV001253289	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly-syndactyly-oligodactyly syndrome	Pathogenic	rs875989842	RCV000210948	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HOXD13-related disorder	Pathogenic	rs760539494, rs878854346	RCV004552132 RCV003479436	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndactyly type 5	Pathogenic; Likely pathogenic	rs760539494, rs878854345, rs104893635, rs200750564, rs1574943406	RCV005868478 RCV000016001 RCV000016002 RCV002502445 RCV000850561	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Synpolydactyly	Likely pathogenic; Pathogenic	rs200750564	RCV002259339	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Synpolydactyly type 1	Pathogenic; Likely pathogenic	rs2105379203, rs878854400, rs879255265, rs886037831, rs121912541, rs28933082, rs878854343, rs878854344, rs764838478, rs878854345, rs200750564, rs1574943406, rs775525473	RCV001806412 RCV000210952 RCV000210949 RCV000210954 RCV000210946 RCV000210953 RCV000015993 RCV000015994 RCV000015999 RCV000016000 RCV001353047 RCV000016004 RCV001197466 RCV000850561 RCV000015992	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal finger morphology	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY WITH SYNDACTYLY ZHAO TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE D	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE E	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE E1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY-SYNDACTYLY, ZHAO TYPE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYMESOPHALANGY 2 AND 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CLUBFOOT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTORCHIDISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGIC DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIMELIA OF LIMB NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB DEFORMITIES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENILE HYPOSPADIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY TYPE 1, MONTAGU TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY, TYPE 2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY, TYPE V	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNPOLYDACTYLY 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VACTERL/VATER ASSOCIATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VATER association	Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ZYGODACTYLY TYPE 3	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	BEFREE	17236141		★☆☆☆☆ Found in Text Mining only
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	15755899, 22643831, 25220590		★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	CTD_human_DG	27725143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anencephaly	Anencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	24857698		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	24857698		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	28245522		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29663427		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	19488988		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	19488988	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	17236141	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	29663427		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	17365847, 23025459		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	7833250		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	12620993, 12649808, 15643670, 17236141, 26581570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	Pubtator	12649808, 17236141	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly syndrome type E	Brachydactyly	ORPHANET_DG	12649808		★☆☆☆☆ Found in Text Mining only
Brachydactyly Type D	Brachydactyly	Pubtator	12649808, 17236141	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly type E	Brachydactyly	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly Type E	Brachydactyly	Pubtator	22233338, 31283647	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRACHYDACTYLY, TYPE D	Brachydactyly	UNIPROT_DG	12649808		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE D	Brachydactyly	GENOMICS_ENGLAND_DG	12649808, 17236141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE D	Brachydactyly	CTD_human_DG	24239177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE D	Brachydactyly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE D	Brachydactyly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY-SYNDACTYLY SYNDROME	Brachydactyly-Syndactyly Syndrome	GENOMICS_ENGLAND_DG	12649808, 17236141		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRACHYDACTYLY-SYNDACTYLY SYNDROME	Brachydactyly-Syndactyly Syndrome	BEFREE	17236141		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRACHYDACTYLY-SYNDACTYLY SYNDROME	Brachydactyly-Syndactyly Syndrome	ORPHANET_DG	17236141		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRACHYDACTYLY-SYNDACTYLY SYNDROME	Brachydactyly-Syndactyly Syndrome	UNIPROT_DG	17236141, 23995701		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRACHYDACTYLY-SYNDACTYLY SYNDROME	Brachydactyly-Syndactyly Syndrome	CTD_human_DG	24239177		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRACHYDACTYLY-SYNDACTYLY SYNDROME	Brachydactyly-Syndactyly Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly-syndactyly, Zhao type	Brachydactyly-Syndactyly Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME	Brachydactyly-Syndactyly-Oligodactyly Syndrome	ORPHANET_DG	17236141		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME	Brachydactyly-Syndactyly-Oligodactyly Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	BEFREE	19488988, 26617782, 29117588, 30014897, 30771277, 30796839, 30954728, 31176611, 31796364		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19488988, 26617782, 26617867, 26918343	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19488988	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30506460	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34910956	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25531265, 29894719		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30419430		★☆☆☆☆ Found in Text Mining only
Carpal synostosis	Carpal synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	34220824	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	30503319		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	21876633	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	32370568	Inhibit	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	37273534	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29894719		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36160034	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30578715		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19429598		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	LHGDN	16331564		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Foot Deformity	Congenital deformity of foot	BEFREE	23995701, 9758628		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	17599561		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	17216618, 28557710		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	28012778		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	17599561		★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	9324017		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28630404, 30947031		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	30541462		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31737560		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	31134385		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	31134385		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	27888797		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	31226595		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30578715, 31226595		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder anomaly congenital	Congenital Gallbladder Anomaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	40209540	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35845958	Associate	★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Gray Platelet Syndrome	BEFREE	11136552		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30541462	Associate	★☆☆☆☆ Found in Text Mining only
Hand foot uterus syndrome	Hand-foot-genital syndrome	BEFREE	11206481, 12073020, 15643670		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	12543865		★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	32370568, 37102762	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	34910956	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	34910956	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	27234317, 29874774		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	33423702	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28572024, 31039416		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	30149342		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	17656229		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	LHGDN	17656229		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	9207113	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	30844666		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28743305, 30746211		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	38226605	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	29333980, 31651870		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	17377591		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28532818		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	15887301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	28808656		★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10931000, 10995009		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18566322		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10397741, 10931000, 10995009, 12543865, 17656257, 22323452, 26847026, 31748606, 9766650		★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	BEFREE	27109442		★☆☆☆☆ Found in Text Mining only
Limb Deformities Congenital	Congenital anomaly of limb	Pubtator	30541462, 34159400, 35819063	Associate	★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	11543619, 11778160, 12073020, 12620993, 12900906, 15333588, 17236141, 19006232, 19060004, 19459884, 20974300, 21814222, 22374128, 23995701, 24789103, 27254532, 31611522, 8817328, 9207113, 9758628		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb Deformities, Congenital	Congenital anomaly of limb	CTD_human_DG	8620844		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	28545019, 30078052, 30506460		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	34910956	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	37915081	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	34910956	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26617867	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	CTD_human_DG	27725143		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19488988, 26617782, 30014897, 30771277, 30796839, 30954728, 31176611, 31796364		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31134385		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25531265, 29894719		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26617782, 28638732		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28638732, 28890219, 29675979, 29894719, 30086519, 30771277, 31134385, 31176611, 31737560		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26617782		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19488988	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30771277		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28630404, 30947031		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	15887301		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31472382		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	25220590		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	31374257		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10931000, 15755899, 22606303, 22927245, 25220590, 27881875, 28684528, 29371326		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	18566322		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	22927245		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	17599561		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19488988, 21389868, 22606303, 22867812, 23098512, 26617782, 28772138, 29675979, 29894719, 30078052, 30807610, 31132478, 31134385, 31176611, 31737560, 31796364		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	22879880	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25784559, 31302334, 31468451		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23999552, 31203119, 31472382		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	CTD_human_DG	27725143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON RARE IN EUROPE: Brachydactyly type D	Brachydactyly	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31226595		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17016581, 27597284		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27059147, 29523931		★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	20133602		★☆☆☆☆ Found in Text Mining only
Oligodactyly	Oligodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	30541462	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36213580	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26617782, 28638732		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19488988, 24189220, 26617782	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26617867	Inhibit	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28772138, 31387967, 31742588		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	21389868		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31203119, 31472382		★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	17656229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Penile hypospadias	Penile Hypospadias	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pineal Gland Neoplasm	Pineal Gland Neoplasm	BEFREE	16825954, 31567202		★☆☆☆☆ Found in Text Mining only
Platelet Storage Pool Deficiency	Platelet Storage Pool Deficiency	BEFREE	17365847, 6665769, 7833250		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	17236141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly	Polydactyly	BEFREE	18177473, 19075394, 22373878, 27254532, 7666393		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly	Polydactyly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly Postaxial	Polydactyly	Pubtator	33533119	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polysyndactyly	Polysyndactyly	BEFREE	7666394		★☆☆☆☆ Found in Text Mining only
Polysyndactyly	Polysyndactyly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Postaxial polydactyly type A	Polydactyly	BEFREE	7666393		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	17568789		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27909722, 28245522, 29489833, 30284646, 9324017		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	35653119, 35921177	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28056053, 28716595, 29702526		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	27754829		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28808656	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31226595		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	12900906, 17236141, 18177473, 21654727, 23948678, 24789103, 26581570, 27254532, 28600059, 9758628		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly	Syndactyly	Pubtator	17236141, 21654727, 24789103, 28600059, 31870337, 33533119, 36195906	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly	Syndactyly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly	Syndactyly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly type 2	Syndactyly	Pubtator	10364522, 12649808, 17236141, 18072967, 21814222, 23948678, 24789103, 31611522, 9207113, 9758628	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly, type 2	Syndactyly	BEFREE	10364522, 11206481, 11543619, 11778160, 12073020, 12116248, 12620993, 12900906, 15333588, 15643670, 17236141, 17656229, 18072967, 19060004, 19075394, 20974300, 21782042, 21814222, 22373878, 22374128, 23948678, 24055421, 24161848, 26581570, 27254532, 27909722, 28910277, 29675979, 31306809, 31611522, 7581388, 7666394, 7717427, 8614804, 8817328, 9207113, 9580668, 9730609		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly, type 2	Syndactyly	UNIPROT_DG	12414828, 16222680, 24789103, 26581570, 8817328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly, type 2	Syndactyly	GENOMICS_ENGLAND_DG	12649808, 17236141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly, type 2	Syndactyly	ORPHANET_DG	22448207		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly, type 2	Syndactyly	CTD_human_DG	24239177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly, type 2	Syndactyly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly, Type I	Syndactyly	BEFREE	24789103		★☆☆☆☆ Found in Text Mining only
Syndactyly, type v	Syndactyly	GENOMICS_ENGLAND_DG	12649808, 17236141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly, type v	Syndactyly	BEFREE	17236141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly, type v	Syndactyly	ORPHANET_DG	17236141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly, type v	Syndactyly	UNIPROT_DG	17236141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly, type v	Syndactyly	CTD_human_DG	24239177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly, type v	Syndactyly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Synovial Hypertrophy	Synovial Hypertrophy	BEFREE	30418113		★☆☆☆☆ Found in Text Mining only
Synpolydactyly type 1	Synpolydactyly	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Systemic Scleroderma	Scleroderma	BEFREE	28556548		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	24189220	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	24189220	Associate	★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	30844666		★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31176611		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	19488988, 36833285	Associate	★☆☆☆☆ Found in Text Mining only
VACTERL Association	VACTERL Association	BEFREE	19006232		★☆☆☆☆ Found in Text Mining only
VACTERL Association	VACTERL Association	GENOMICS_ENGLAND_DG	19006232		★☆☆☆☆ Found in Text Mining only
VACTERL Association	VACTERL Association	ORPHANET_DG	19006232		★☆☆☆☆ Found in Text Mining only
VACTERL association	Vacterl association	Pubtator	34338422	Associate	★☆☆☆☆ Found in Text Mining only
VACTERL Association With Hydrocephalus	VACTERL Association	BEFREE	24411047		★☆☆☆☆ Found in Text Mining only
VACTERL/VATER association	VACTERL Association	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VATER Association	VACTERL ASSOCIATION	CTD_human_DG	19006232		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VATER Association	VACTERL ASSOCIATION	ORPHANET_DG	19006232		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VATER association	Vacterl association	Pubtator	34338422	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VATER/VACTERL ASSOCIATION	VACTERL ASSOCIATION	GENOMICS_ENGLAND_DG	12649808		★☆☆☆☆ Found in Text Mining only
Zygodactyly type 3	Zygodactyly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations