DLX3 (distal-less homeobox 3)

Gene

• Entrez ID: 1747
• Gene name: Distal-less homeobox 3
• Gene symbol: DLX3
• Synonyms (NCBI Gene): AI4, TDO
• Chromosome: 17
• Chromosome location: 17q21.33
• Summary: Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906405	CCCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906406	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518764	C>-,CC	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1555617226	C>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT624141	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT624139	hsa-miR-4307	HITS-CLIP	23824327
MIRT624137	hsa-miR-1305	HITS-CLIP	23824327
MIRT624136	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT624141	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT624139	hsa-miR-4307	HITS-CLIP	23824327
MIRT624138	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT624137	hsa-miR-1305	HITS-CLIP	23824327
MIRT624136	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT624141	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT624140	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624139	hsa-miR-4307	HITS-CLIP	23824327
MIRT624138	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT624137	hsa-miR-1305	HITS-CLIP	23824327
MIRT624136	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT624141	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT624139	hsa-miR-4307	HITS-CLIP	23824327
MIRT624137	hsa-miR-1305	HITS-CLIP	23824327
MIRT624136	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT624141	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT624139	hsa-miR-4307	HITS-CLIP	23824327
MIRT624138	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT624137	hsa-miR-1305	HITS-CLIP	23824327
MIRT624136	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT624141	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT624140	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624139	hsa-miR-4307	HITS-CLIP	23824327
MIRT624138	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT624137	hsa-miR-1305	HITS-CLIP	23824327
MIRT624136	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT938947	hsa-miR-1200	CLIP-seq
MIRT938948	hsa-miR-1207-5p	CLIP-seq
MIRT938949	hsa-miR-124	CLIP-seq
MIRT938950	hsa-miR-1299	CLIP-seq
MIRT938951	hsa-miR-1321	CLIP-seq
MIRT938952	hsa-miR-133a	CLIP-seq
MIRT938953	hsa-miR-133b	CLIP-seq
MIRT938954	hsa-miR-150	CLIP-seq
MIRT938955	hsa-miR-3127-5p	CLIP-seq
MIRT938956	hsa-miR-3179	CLIP-seq
MIRT938957	hsa-miR-3189-3p	CLIP-seq
MIRT938958	hsa-miR-3192	CLIP-seq
MIRT938959	hsa-miR-3202	CLIP-seq
MIRT938960	hsa-miR-362-5p	CLIP-seq
MIRT938961	hsa-miR-3689a-3p	CLIP-seq
MIRT938962	hsa-miR-3689c	CLIP-seq
MIRT938963	hsa-miR-4254	CLIP-seq
MIRT938964	hsa-miR-4268	CLIP-seq
MIRT938965	hsa-miR-4278	CLIP-seq
MIRT938966	hsa-miR-4292	CLIP-seq
MIRT938967	hsa-miR-4308	CLIP-seq
MIRT938968	hsa-miR-4324	CLIP-seq
MIRT938969	hsa-miR-4447	CLIP-seq
MIRT938970	hsa-miR-4472	CLIP-seq
MIRT938971	hsa-miR-4476	CLIP-seq
MIRT938972	hsa-miR-4481	CLIP-seq
MIRT938973	hsa-miR-4488	CLIP-seq
MIRT938974	hsa-miR-4505	CLIP-seq
MIRT938975	hsa-miR-4651	CLIP-seq
MIRT938976	hsa-miR-4688	CLIP-seq
MIRT938977	hsa-miR-4697-5p	CLIP-seq
MIRT938978	hsa-miR-4716-3p	CLIP-seq
MIRT938979	hsa-miR-4728-5p	CLIP-seq
MIRT938980	hsa-miR-4739	CLIP-seq
MIRT938981	hsa-miR-4745-5p	CLIP-seq
MIRT938982	hsa-miR-4756-5p	CLIP-seq
MIRT938983	hsa-miR-4758-5p	CLIP-seq
MIRT938984	hsa-miR-4763-3p	CLIP-seq
MIRT938985	hsa-miR-4773	CLIP-seq
MIRT938986	hsa-miR-486-3p	CLIP-seq
MIRT938987	hsa-miR-500b	CLIP-seq
MIRT938988	hsa-miR-506	CLIP-seq
MIRT938989	hsa-miR-518e	CLIP-seq
MIRT938990	hsa-miR-544b	CLIP-seq
MIRT938991	hsa-miR-548an	CLIP-seq
MIRT938992	hsa-miR-550b	CLIP-seq
MIRT938993	hsa-miR-608	CLIP-seq
MIRT938994	hsa-miR-659	CLIP-seq
MIRT938995	hsa-miR-671-5p	CLIP-seq
MIRT938996	hsa-miR-765	CLIP-seq
MIRT938997	hsa-miR-875-3p	CLIP-seq
MIRT938998	hsa-miR-9	CLIP-seq
MIRT938999	hsa-miR-935	CLIP-seq
MIRT1977781	hsa-miR-1	CLIP-seq
MIRT938949	hsa-miR-124	CLIP-seq
MIRT1977782	hsa-miR-1270	CLIP-seq
MIRT1977783	hsa-miR-1275	CLIP-seq
MIRT938951	hsa-miR-1321	CLIP-seq
MIRT938954	hsa-miR-150	CLIP-seq
MIRT1977784	hsa-miR-206	CLIP-seq
MIRT1977785	hsa-miR-2682	CLIP-seq
MIRT1977786	hsa-miR-3153	CLIP-seq
MIRT1977787	hsa-miR-3173-3p	CLIP-seq
MIRT1977788	hsa-miR-339-5p	CLIP-seq
MIRT1977789	hsa-miR-342-5p	CLIP-seq
MIRT1977790	hsa-miR-361-3p	CLIP-seq
MIRT1977791	hsa-miR-3673	CLIP-seq
MIRT1977792	hsa-miR-3689d	CLIP-seq
MIRT1977793	hsa-miR-3925-3p	CLIP-seq
MIRT938963	hsa-miR-4254	CLIP-seq
MIRT1977794	hsa-miR-4260	CLIP-seq
MIRT1977795	hsa-miR-4286	CLIP-seq
MIRT1977796	hsa-miR-4446-5p	CLIP-seq
MIRT1977797	hsa-miR-4459	CLIP-seq
MIRT1977798	hsa-miR-449c	CLIP-seq
MIRT1977799	hsa-miR-4531	CLIP-seq
MIRT1977800	hsa-miR-4639-3p	CLIP-seq
MIRT938975	hsa-miR-4651	CLIP-seq
MIRT1977801	hsa-miR-4664-5p	CLIP-seq
MIRT1977802	hsa-miR-4665-5p	CLIP-seq
MIRT1977803	hsa-miR-4687-3p	CLIP-seq
MIRT1977804	hsa-miR-4715-3p	CLIP-seq
MIRT938978	hsa-miR-4716-3p	CLIP-seq
MIRT938979	hsa-miR-4728-5p	CLIP-seq
MIRT938980	hsa-miR-4739	CLIP-seq
MIRT1977805	hsa-miR-4755-5p	CLIP-seq
MIRT938982	hsa-miR-4756-5p	CLIP-seq
MIRT938988	hsa-miR-506	CLIP-seq
MIRT1977806	hsa-miR-511	CLIP-seq
MIRT938991	hsa-miR-548an	CLIP-seq
MIRT938992	hsa-miR-550b	CLIP-seq
MIRT938993	hsa-miR-608	CLIP-seq
MIRT1977807	hsa-miR-613	CLIP-seq
MIRT1977808	hsa-miR-620	CLIP-seq
MIRT1977809	hsa-miR-622	CLIP-seq
MIRT1977810	hsa-miR-625	CLIP-seq
MIRT1977811	hsa-miR-670	CLIP-seq
MIRT1977812	hsa-miR-766	CLIP-seq
MIRT938999	hsa-miR-935	CLIP-seq
MIRT1977813	hsa-miR-940	CLIP-seq
MIRT2213084	hsa-miR-1226	CLIP-seq
MIRT938949	hsa-miR-124	CLIP-seq
MIRT2213085	hsa-miR-1243	CLIP-seq
MIRT1977783	hsa-miR-1275	CLIP-seq
MIRT938951	hsa-miR-1321	CLIP-seq
MIRT938952	hsa-miR-133a	CLIP-seq
MIRT938953	hsa-miR-133b	CLIP-seq
MIRT938954	hsa-miR-150	CLIP-seq
MIRT2213086	hsa-miR-24	CLIP-seq
MIRT2213087	hsa-miR-2467-3p	CLIP-seq
MIRT2213088	hsa-miR-2467-5p	CLIP-seq
MIRT1977785	hsa-miR-2682	CLIP-seq
MIRT2213089	hsa-miR-3123	CLIP-seq
MIRT938955	hsa-miR-3127-5p	CLIP-seq
MIRT2213090	hsa-miR-3168	CLIP-seq
MIRT2213091	hsa-miR-3175	CLIP-seq
MIRT938957	hsa-miR-3189-3p	CLIP-seq
MIRT2213092	hsa-miR-3189-5p	CLIP-seq
MIRT938958	hsa-miR-3192	CLIP-seq
MIRT938960	hsa-miR-362-5p	CLIP-seq
MIRT2213093	hsa-miR-3654	CLIP-seq
MIRT2213094	hsa-miR-3664-3p	CLIP-seq
MIRT2213095	hsa-miR-3925-5p	CLIP-seq
MIRT2213096	hsa-miR-3928	CLIP-seq
MIRT2213097	hsa-miR-3938	CLIP-seq
MIRT938963	hsa-miR-4254	CLIP-seq
MIRT2213098	hsa-miR-4270	CLIP-seq
MIRT938965	hsa-miR-4278	CLIP-seq
MIRT2213099	hsa-miR-4290	CLIP-seq
MIRT2213100	hsa-miR-4419a	CLIP-seq
MIRT2213101	hsa-miR-4433	CLIP-seq
MIRT2213102	hsa-miR-4441	CLIP-seq
MIRT938969	hsa-miR-4447	CLIP-seq
MIRT1977797	hsa-miR-4459	CLIP-seq
MIRT938970	hsa-miR-4472	CLIP-seq
MIRT2213103	hsa-miR-4496	CLIP-seq
MIRT1977798	hsa-miR-449c	CLIP-seq
MIRT2213104	hsa-miR-4510	CLIP-seq
MIRT2213105	hsa-miR-4514	CLIP-seq
MIRT2213106	hsa-miR-4645-5p	CLIP-seq
MIRT938975	hsa-miR-4651	CLIP-seq
MIRT1977802	hsa-miR-4665-5p	CLIP-seq
MIRT2213107	hsa-miR-4673	CLIP-seq
MIRT2213108	hsa-miR-4683	CLIP-seq
MIRT2213109	hsa-miR-4687-5p	CLIP-seq
MIRT2213110	hsa-miR-4692	CLIP-seq
MIRT2213111	hsa-miR-4701-5p	CLIP-seq
MIRT2213112	hsa-miR-4712-5p	CLIP-seq
MIRT938978	hsa-miR-4716-3p	CLIP-seq
MIRT2213113	hsa-miR-4723-5p	CLIP-seq
MIRT938979	hsa-miR-4728-5p	CLIP-seq
MIRT938980	hsa-miR-4739	CLIP-seq
MIRT2213114	hsa-miR-4755-3p	CLIP-seq
MIRT938982	hsa-miR-4756-5p	CLIP-seq
MIRT2213115	hsa-miR-4758-3p	CLIP-seq
MIRT2213116	hsa-miR-4768-3p	CLIP-seq
MIRT2213117	hsa-miR-4786-5p	CLIP-seq
MIRT2213118	hsa-miR-4800-3p	CLIP-seq
MIRT2213119	hsa-miR-494	CLIP-seq
MIRT938987	hsa-miR-500b	CLIP-seq
MIRT938988	hsa-miR-506	CLIP-seq
MIRT2213120	hsa-miR-5096	CLIP-seq
MIRT938991	hsa-miR-548an	CLIP-seq
MIRT938992	hsa-miR-550b	CLIP-seq
MIRT2213121	hsa-miR-588	CLIP-seq
MIRT938993	hsa-miR-608	CLIP-seq
MIRT2213122	hsa-miR-642a	CLIP-seq
MIRT2213123	hsa-miR-645	CLIP-seq
MIRT938994	hsa-miR-659	CLIP-seq
MIRT2213124	hsa-miR-665	CLIP-seq
MIRT2213125	hsa-miR-764	CLIP-seq
MIRT938996	hsa-miR-765	CLIP-seq
MIRT2213126	hsa-miR-770-5p	CLIP-seq
MIRT938998	hsa-miR-9	CLIP-seq
MIRT938999	hsa-miR-935	CLIP-seq
MIRT1977813	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001568	Process	Blood vessel development	IEA
GO:0001890	Process	Placenta development	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0003677	Function	DNA binding	IDA	26550823
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9467018
GO:0005515	Function	Protein binding	IPI	26871637, 28515447, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0010467	Process	Gene expression	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030855	Process	Epithelial cell differentiation	IBA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0035315	Process	Hair cell differentiation	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042633	Process	Hair cycle	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048706	Process	Embryonic skeletal system development	IBA
GO:0071335	Process	Hair follicle cell proliferation	IEA
GO:0071895	Process	Odontoblast differentiation	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 600525
• HGNC: 2916
• e!Ensembl: ENSG00000064195

Protein

• UniProt ID: O60479
• Protein name: Homeobox protein DLX-3
• Protein function: Transcriptional activator (By similarity). Activates transcription of GNRHR, via binding to the downstream activin regulatory element (DARE) in the gene promoter (By similarity).
• PDB: 4XRS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12413	DLL_N	27 → 108	Homeobox protein distal-less-like N terminal	Family
  PF00046	Homeodomain	130 → 186	Homeodomain	Domain

• Sequence:

  MSGSFDRKLSSILTDISSSLSCHAGSKDSPTLPESSVTDLGYYSAPQHDYYSGQPYGQTV
  NPYTYHHQFNLNGLAGTGAYSPKSEYTYGASYRQYGAYREQPLPAQDPVSVKEEPEAEVR
  MVNGKPKKVRKPRTIYSSYQLAALQRRFQKAQYLALPERAELAAQLGLTQTQVKIWFQNR
  RSKFKKLYKNGEVPLEHSPNNSDSMACNSPPSPALWDTSSHSTPAPARSQLPPPLPYSAS
  PSYLDDPTNSWYHAQNLSGPHLQQQPPQPATLHHASPGPPPNPGAVY

• Sequence length: 287

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
Amelogenesis imperfecta	Likely pathogenic	rs1057518764	RCV000415464	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DLX3-related disorder	Pathogenic	rs387906405	RCV003390665	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	Pathogenic; Likely pathogenic	rs387906405, rs387906406, rs2544347059, rs1057518764, rs1555617226	RCV005016256 RCV000009640 RCV003154838 RCV001198203 RCV000585754 RCV000585785	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peripheral pulmonary artery stenosis	Likely pathogenic	rs1057518764	RCV000415464	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tricho-dento-osseous syndrome	Likely pathogenic; Pathogenic	rs2144182867, rs387906405, rs387906406, rs1057518764, rs1555617226	RCV001829278 RCV000009639 RCV000009641 RCV000585754 RCV000585785	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Amelogenesis Imperfecta, Dominant	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, HYPOMATURATION HYPOPLASIA TYPE WITH TAURODONTISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IV	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTIN DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTINOGENESIS IMPERFECTA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHODENTOOSSEOUS SYNDROME	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine leiomyoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	17611665		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17611665		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	18854600	Associate	★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	15666299, 18203197, 18362318, 25815730, 26762616, 29745813, 30095208		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	Pubtator	16674655, 30095208	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism	Amelogenesis Imperfecta With Taurodontism	ORPHANET_DG	15666299		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type IV	Amelogenesis imperfecta	ORPHANET_DG	15666299		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type IV	Amelogenesis imperfecta	BEFREE	18362318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type IV	Amelogenesis imperfecta	GENOMICS_ENGLAND_DG	23949819, 26762616		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type IV	Amelogenesis imperfecta	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type IV	Amelogenesis imperfecta	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	28533516	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	27562213	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	33655330	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31331058	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	31556145		★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	BEFREE	28117398		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	17611665		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	14670999		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17611665		★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ankyloblepharon	Congenital Ankyloblepharon	BEFREE	17164413		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	34311721	Associate	★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	BEFREE	11286811		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	30014175		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	21709238		★☆☆☆☆ Found in Text Mining only
Developmental Dysplasia of the Hip	Developmental dysplasia of the hip	Pubtator	19756907	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30014175		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30014175		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	16187309		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	17164413, 18492670, 21252474, 21520071		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	31638262		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31781097		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	28186503		★☆☆☆☆ Found in Text Mining only
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	Hypomaturation-Hypoplastic Amelogenesis Imperfecta With Taurodontism	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypomineralization of enamel of tooth	Hypomineralization Of Enamel Of Tooth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	BEFREE	17552940		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	21709238		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23949819		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17611665		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	17164413		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	26522723, 31331058		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28357780, 30014175		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30014175		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26522723, 31512038		★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	28883412		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	23949819		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	27924851		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	34925225	Associate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	15454107, 27924851		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral pulmonary artery stenosis	Peripheral pulmonary artery stenosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skin Abnormalities	Skin abnormalities	Pubtator	21520071	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26522723		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	28186503		★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	BEFREE	15666299, 17552940, 18203197, 18362318		★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	21520071	Associate	★☆☆☆☆ Found in Text Mining only
Tricho-dento-osseous syndrome	Trichodentoosseous syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tricho-dento-osseous syndrome (disorder)	Trichodentoosseous syndrome	BEFREE	10466415, 15454107, 15666299, 17559453, 18203197, 18492670, 20151948, 21252474, 21520071, 23949819, 25815730, 26104267, 27924851, 28135572, 28963438, 29604248, 30095208, 31029881, 9467018, 9783705		★☆☆☆☆ Found in Text Mining only
Tricho-dento-osseous syndrome (disorder)	Trichodentoosseous syndrome	ORPHANET_DG	18492670, 22969805		★☆☆☆☆ Found in Text Mining only
Tricho-dento-osseous syndrome (disorder)	Trichodentoosseous syndrome	GENOMICS_ENGLAND_DG	23949819, 26762616		★☆☆☆☆ Found in Text Mining only
Tricho-dento-osseous syndrome (disorder)	Trichodentoosseous syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Tricho-dento-osseous syndrome (disorder)	Trichodentoosseous syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only