TFAP2B (transcription factor AP-2 beta)

Gene

• Entrez ID: 7021
• Gene name: Transcription factor AP-2 beta
• Gene symbol: TFAP2B
• Synonyms (NCBI Gene): AP-2B, AP-2beta, AP2-B, PDA2
• Chromosome: 6
• Chromosome location: 6p12.3
• Summary: This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differ

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35649205	CACACA>-,CA,CACA,CACACACA	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant
rs80338910	C>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs80338911	G>A	Pathogenic	Intron variant
rs80338912	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs80338914	C>A	Pathogenic	Coding sequence variant, missense variant
rs80338915	G>A	Pathogenic	Coding sequence variant, missense variant
rs80338916	G>C	Pathogenic	Splice acceptor variant
rs80338917	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253870	A>T	Pathogenic	Splice acceptor variant
rs879253871	CCGG>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1232197674	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1561964103	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017509	hsa-miR-335-5p	Microarray	18185580
MIRT721702	hsa-miR-6733-3p	HITS-CLIP	19536157
MIRT721701	hsa-miR-4302	HITS-CLIP	19536157
MIRT721700	hsa-miR-221-5p	HITS-CLIP	19536157
MIRT721699	hsa-miR-8073	HITS-CLIP	19536157
MIRT721698	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT721697	hsa-miR-1976	HITS-CLIP	19536157
MIRT721696	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT721695	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT721694	hsa-miR-4276	HITS-CLIP	19536157
MIRT721693	hsa-miR-6843-3p	HITS-CLIP	19536157
MIRT721692	hsa-miR-6848-3p	HITS-CLIP	19536157
MIRT721691	hsa-miR-30a-3p	HITS-CLIP	19536157
MIRT721690	hsa-miR-30d-3p	HITS-CLIP	19536157
MIRT721689	hsa-miR-30e-3p	HITS-CLIP	19536157
MIRT721688	hsa-miR-6777-3p	HITS-CLIP	19536157
MIRT716956	hsa-miR-181d-3p	HITS-CLIP	19536157
MIRT716955	hsa-miR-885-5p	HITS-CLIP	19536157
MIRT716954	hsa-miR-6499-5p	HITS-CLIP	19536157
MIRT716953	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT716952	hsa-miR-4632-3p	HITS-CLIP	19536157
MIRT716956	hsa-miR-181d-3p	HITS-CLIP	19536157
MIRT716955	hsa-miR-885-5p	HITS-CLIP	19536157
MIRT716954	hsa-miR-6499-5p	HITS-CLIP	19536157
MIRT716953	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT716952	hsa-miR-4632-3p	HITS-CLIP	19536157
MIRT487450	hsa-miR-558	PAR-CLIP	20371350
MIRT487448	hsa-miR-6132	PAR-CLIP	20371350
MIRT487449	hsa-miR-6836-5p	PAR-CLIP	20371350
MIRT487447	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT487446	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT487445	hsa-miR-6731-5p	PAR-CLIP	20371350
MIRT487444	hsa-miR-8085	PAR-CLIP	20371350
MIRT487443	hsa-miR-6781-5p	PAR-CLIP	20371350
MIRT487442	hsa-miR-3175	PAR-CLIP	20371350
MIRT487441	hsa-miR-128-1-5p	PAR-CLIP	20371350
MIRT487440	hsa-miR-128-2-5p	PAR-CLIP	20371350
MIRT487438	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT487439	hsa-miR-5698	PAR-CLIP	20371350
MIRT487437	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT487436	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT487435	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT487434	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT487450	hsa-miR-558	PAR-CLIP	23592263
MIRT487448	hsa-miR-6132	PAR-CLIP	23592263
MIRT487449	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT487447	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT487446	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT487445	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT487444	hsa-miR-8085	PAR-CLIP	23592263
MIRT487443	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT487442	hsa-miR-3175	PAR-CLIP	23592263
MIRT487441	hsa-miR-128-1-5p	PAR-CLIP	23592263
MIRT487440	hsa-miR-128-2-5p	PAR-CLIP	23592263
MIRT487438	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT487439	hsa-miR-5698	PAR-CLIP	23592263
MIRT487437	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT487436	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT487435	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT487434	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT734716	hsa-miR-874-3p	Western blotting, Flow cytometry	32067207
MIRT721702	hsa-miR-6733-3p	HITS-CLIP	19536157
MIRT721701	hsa-miR-4302	HITS-CLIP	19536157
MIRT721700	hsa-miR-221-5p	HITS-CLIP	19536157
MIRT721699	hsa-miR-8073	HITS-CLIP	19536157
MIRT721698	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT721697	hsa-miR-1976	HITS-CLIP	19536157
MIRT721696	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT721695	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT721694	hsa-miR-4276	HITS-CLIP	19536157
MIRT721693	hsa-miR-6843-3p	HITS-CLIP	19536157
MIRT721692	hsa-miR-6848-3p	HITS-CLIP	19536157
MIRT721691	hsa-miR-30a-3p	HITS-CLIP	19536157
MIRT721690	hsa-miR-30d-3p	HITS-CLIP	19536157
MIRT721689	hsa-miR-30e-3p	HITS-CLIP	19536157
MIRT721688	hsa-miR-6777-3p	HITS-CLIP	19536157
MIRT716956	hsa-miR-181d-3p	HITS-CLIP	19536157
MIRT716955	hsa-miR-885-5p	HITS-CLIP	19536157
MIRT716954	hsa-miR-6499-5p	HITS-CLIP	19536157
MIRT716953	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT716952	hsa-miR-4632-3p	HITS-CLIP	19536157
MIRT716956	hsa-miR-181d-3p	HITS-CLIP	19536157
MIRT716955	hsa-miR-885-5p	HITS-CLIP	19536157
MIRT716954	hsa-miR-6499-5p	HITS-CLIP	19536157
MIRT716953	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT716952	hsa-miR-4632-3p	HITS-CLIP	19536157
MIRT487450	hsa-miR-558	PAR-CLIP	20371350
MIRT487448	hsa-miR-6132	PAR-CLIP	20371350
MIRT487449	hsa-miR-6836-5p	PAR-CLIP	20371350
MIRT487447	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT487446	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT487445	hsa-miR-6731-5p	PAR-CLIP	20371350
MIRT487444	hsa-miR-8085	PAR-CLIP	20371350
MIRT487443	hsa-miR-6781-5p	PAR-CLIP	20371350
MIRT487442	hsa-miR-3175	PAR-CLIP	20371350
MIRT487441	hsa-miR-128-1-5p	PAR-CLIP	20371350
MIRT487440	hsa-miR-128-2-5p	PAR-CLIP	20371350
MIRT487438	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT487439	hsa-miR-5698	PAR-CLIP	20371350
MIRT487437	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT487436	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT487435	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT487434	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT487450	hsa-miR-558	PAR-CLIP	23592263
MIRT487448	hsa-miR-6132	PAR-CLIP	23592263
MIRT487449	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT487447	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT487446	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT487445	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT487444	hsa-miR-8085	PAR-CLIP	23592263
MIRT487443	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT487442	hsa-miR-3175	PAR-CLIP	23592263
MIRT487441	hsa-miR-128-1-5p	PAR-CLIP	23592263
MIRT487440	hsa-miR-128-2-5p	PAR-CLIP	23592263
MIRT487438	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT487439	hsa-miR-5698	PAR-CLIP	23592263
MIRT487437	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT487436	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT487435	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT487434	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT1419750	hsa-miR-141	CLIP-seq
MIRT1419751	hsa-miR-19a	CLIP-seq
MIRT1419752	hsa-miR-19b	CLIP-seq
MIRT1419753	hsa-miR-200a	CLIP-seq
MIRT1419754	hsa-miR-203	CLIP-seq
MIRT1419755	hsa-miR-204	CLIP-seq
MIRT1419756	hsa-miR-211	CLIP-seq
MIRT1419757	hsa-miR-27a	CLIP-seq
MIRT1419758	hsa-miR-27b	CLIP-seq
MIRT1419759	hsa-miR-3064-3p	CLIP-seq
MIRT1419760	hsa-miR-3123	CLIP-seq
MIRT1419761	hsa-miR-3148	CLIP-seq
MIRT1419762	hsa-miR-320a	CLIP-seq
MIRT1419763	hsa-miR-320b	CLIP-seq
MIRT1419764	hsa-miR-320c	CLIP-seq
MIRT1419765	hsa-miR-320d	CLIP-seq
MIRT1419766	hsa-miR-323b-3p	CLIP-seq
MIRT1419767	hsa-miR-3654	CLIP-seq
MIRT1419768	hsa-miR-3714	CLIP-seq
MIRT1419769	hsa-miR-3938	CLIP-seq
MIRT1419770	hsa-miR-3978	CLIP-seq
MIRT1419771	hsa-miR-4263	CLIP-seq
MIRT1419772	hsa-miR-4282	CLIP-seq
MIRT1419773	hsa-miR-4312	CLIP-seq
MIRT1419774	hsa-miR-4429	CLIP-seq
MIRT1419775	hsa-miR-4493	CLIP-seq
MIRT1419776	hsa-miR-4503	CLIP-seq
MIRT1419777	hsa-miR-4638-3p	CLIP-seq
MIRT1419778	hsa-miR-4733-5p	CLIP-seq
MIRT1419779	hsa-miR-4755-5p	CLIP-seq
MIRT1419780	hsa-miR-4793-5p	CLIP-seq
MIRT1419781	hsa-miR-4799-5p	CLIP-seq
MIRT1419782	hsa-miR-513a-5p	CLIP-seq
MIRT1419783	hsa-miR-570	CLIP-seq
MIRT1419784	hsa-miR-576-5p	CLIP-seq
MIRT1419785	hsa-miR-577	CLIP-seq
MIRT1419786	hsa-miR-606	CLIP-seq
MIRT1419787	hsa-miR-623	CLIP-seq
MIRT1419788	hsa-miR-944	CLIP-seq
MIRT2126096	hsa-miR-186	CLIP-seq
MIRT2126097	hsa-miR-3133	CLIP-seq
MIRT2126098	hsa-miR-3176	CLIP-seq
MIRT2126099	hsa-miR-3183	CLIP-seq
MIRT2126100	hsa-miR-330-3p	CLIP-seq
MIRT2126101	hsa-miR-371-5p	CLIP-seq
MIRT2126102	hsa-miR-371b-5p	CLIP-seq
MIRT2126103	hsa-miR-3922-3p	CLIP-seq
MIRT1419773	hsa-miR-4312	CLIP-seq
MIRT2126104	hsa-miR-4422	CLIP-seq
MIRT2126105	hsa-miR-4723-3p	CLIP-seq
MIRT2126106	hsa-miR-4795-3p	CLIP-seq
MIRT2126107	hsa-miR-514	CLIP-seq
MIRT2126108	hsa-miR-514b-3p	CLIP-seq
MIRT2348107	hsa-miR-3159	CLIP-seq
MIRT1419773	hsa-miR-4312	CLIP-seq
MIRT2348108	hsa-miR-4320	CLIP-seq
MIRT2461327	hsa-miR-3185	CLIP-seq
MIRT2461328	hsa-miR-3691-3p	CLIP-seq
MIRT2461329	hsa-miR-3909	CLIP-seq
MIRT2461330	hsa-miR-4709-3p	CLIP-seq
MIRT2461331	hsa-miR-671-5p	CLIP-seq
MIRT2640814	hsa-miR-1273e	CLIP-seq
MIRT2640815	hsa-miR-132	CLIP-seq
MIRT2640816	hsa-miR-212	CLIP-seq
MIRT2640817	hsa-miR-296-5p	CLIP-seq
MIRT2640818	hsa-miR-635	CLIP-seq
MIRT2640814	hsa-miR-1273e	CLIP-seq
MIRT2640815	hsa-miR-132	CLIP-seq
MIRT2640816	hsa-miR-212	CLIP-seq
MIRT2640817	hsa-miR-296-5p	CLIP-seq
MIRT2640818	hsa-miR-635	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	7559606
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	7555706
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	IDA	7555706
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	IDA	16373396
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	7559606
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	ISS
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	12072434
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11505339, 12169688, 16373396
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	8661133
GO:0005515	Function	Protein binding	IPI	7555706, 11694877, 12072434, 12586840, 19115315, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	12169688
GO:0005634	Component	Nucleus	IDA	20607706
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006006	Process	Glucose metabolic process	IMP	15940393, 16373396, 19325541
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0007423	Process	Sensory organ development	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	17525748
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	20607706
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010842	Process	Retina layer formation	IEP	20607706
GO:0030510	Process	Regulation of BMP signaling pathway	IEA
GO:0030510	Process	Regulation of BMP signaling pathway	ISS
GO:0035136	Process	Forelimb morphogenesis	IEA
GO:0035136	Process	Forelimb morphogenesis	ISS
GO:0035137	Process	Hindlimb morphogenesis	IEA
GO:0035137	Process	Hindlimb morphogenesis	ISS
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0035909	Process	Aorta morphogenesis	ISS
GO:0042127	Process	Regulation of cell population proliferation	IBA
GO:0042803	Function	Protein homodimerization activity	IPI	11505339
GO:0043066	Process	Negative regulation of apoptotic process	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	17525748
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IDA	20607706
GO:0043565	Function	Sequence-specific DNA binding	IDA	11505339, 12169688
GO:0043588	Process	Skin development	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	IEP	16373396
GO:0045595	Process	Regulation of cell differentiation	IDA	20607706
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	20607706
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11505339
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	16373396
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	7555706, 12169688
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	11505339
GO:0048485	Process	Sympathetic nervous system development	IEA
GO:0048485	Process	Sympathetic nervous system development	ISS
GO:0048745	Process	Smooth muscle tissue development	IEA
GO:0050796	Process	Regulation of insulin secretion	IMP	15940393, 19325541
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0072017	Process	Distal tubule development	IEA
GO:0072017	Process	Distal tubule development	ISS
GO:0072044	Process	Collecting duct development	IEA
GO:0072044	Process	Collecting duct development	ISS
GO:0072210	Process	Metanephric nephron development	IEA
GO:0097070	Process	Ductus arteriosus closure	IEA
GO:0097070	Process	Ductus arteriosus closure	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 601601
• HGNC: 11743
• e!Ensembl: ENSG00000008196

Protein

• UniProt ID: Q92481
• Protein name: Transcription factor AP-2-beta (AP2-beta) (Activating enhancer-binding protein 2-beta)
• Protein function: Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a la
• PDB: 8J0Q
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03299	TF_AP-2	230 → 424	Transcription factor AP-2	Family

• Sequence:

  MHSPPRDQAAIMLWKLVENVKYEDIYEDRHDGVPSHSSRLSQLGSVSQGPYSSAPPLSHT
  PSSDFQPPYFPPPYQPLPYHQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSEAGS
  LLPQPRAALPQLSGLDPRRDYHSVRRPDVLLHSAHHGLDAGMGDSLSLHGLGHPGMEDVQ
  SVEDANNSGMNLLDQSVIKKVPVPPKSVTSLMMNKDGFLGGMSVNTGEVFCSVPGRLSLL
  SSTSKYKVTVGEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLRERLEKIGLNLPAGRR
  KAANVTLLTSLVEGEAVHLARDFGYICETEFPAKAVSEYLNRQHTDPSDLHSRKNMLLAT
  KQLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNY
  LTEALKGMDKMFLNNTTTNRHTSGEGPGSKTGDKEEKHRK

• Sequence length: 460

Pathways

Reactome:

Negative regulation of activity of TFAP2 (AP-2) family transcription factors
Activation of the TFAP2 (AP-2) family of transcription factors
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors

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
Char syndrome	Likely pathogenic; Pathogenic	rs1325125531, rs80338914, rs80338917, rs80338912, rs80338915, rs80338910, rs759239606, rs80338911, rs1561964103	RCV001787312 RCV000008505 RCV000008506 RCV000008507 RCV000008508 RCV000008509 RCV000008510 RCV003388854 RCV000020531 RCV000735439	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chronic intestinal pseudoobstruction	Pathogenic	rs2113949539	RCV002259412	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniosynostosis syndrome	Likely pathogenic	rs2113920409, rs2113937986, rs2113952620, rs2113960501	RCV001849683 RCV001849684 RCV001849685 RCV001849686	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Patent ductus arteriosus 2	Pathogenic; Likely pathogenic	rs879253870, rs879253871, rs1377078499, rs80338911	RCV000235010 RCV000235012 RCV003989451 RCV000235013	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bifid nasal tip	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BODY WEIGHT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTESTINAL PSEUDO-OBSTRUCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of the 5th finger	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL HAND DEFORMITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUCTUS ARTERIOSUS, PATENT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertelorism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORBID OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Opacification of the corneal stroma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PATENT DUCTUS ARTERIOSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TFAP2B-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Upslanted palpebral fissure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory nipple	Accessory Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24766673		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	26168243, 29035379		★☆☆☆☆ Found in Text Mining only
Amelogenesis imperfecta local hypoplastic form	Amelogenesis imperfecta	Pubtator	28381879	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	28381879	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	Pubtator	28948079	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Disease	Aortic valve disease	Pubtator	28381879	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	22959235		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	15684060	Associate	★☆☆☆☆ Found in Text Mining only
Breast cancer, lobular	Breast Cancer	BEFREE	29035379		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29035379, 29972820, 8661133		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34117603, 36533448	Associate	★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	Pubtator	28948079	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32856873	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24766673		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20502531, 34621242, 34689221	Associate	★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	31012281		★☆☆☆☆ Found in Text Mining only
CHAR SYNDROME	CHAR Syndrome	UNIPROT_DG	10802654, 11505339, 15684060		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHAR SYNDROME	CHAR Syndrome	GENOMICS_ENGLAND_DG	10955477, 31292255, 7645594		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHAR SYNDROME	CHAR Syndrome	BEFREE	11505339, 15684060, 18752453, 19955832, 21829553, 24507797, 29804851, 30579973, 31012281		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Char syndrome	CHAR Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHAR SYNDROME	CHAR Syndrome	CLINVAR_DG	29555671		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHAR SYNDROME	CHAR Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clinodactyly	Clinodactyly	GENOMICS_ENGLAND_DG	10955477		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	BEFREE	31012281		★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	GENOMICS_ENGLAND_DG	10955477		★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	BEFREE	31012281		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital anomaly of face	Facial dysmorphism	BEFREE	29804851		★☆☆☆☆ Found in Text Mining only
Congenital Hand Deformities	Congenital anomaly of the hand	CTD_human_DG	10802654		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	22199100, 22959235		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19325541		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19325541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	19325541	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19325541, 22199100		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	31292255	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	19184334		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32366963	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19325541, 23408462, 31167208	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15940393, 16373396, 19325541		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	15940393		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	15684060, 19336370, 24507797, 27465141, 28381879, 33837257	Associate	★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29602546		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24312652	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28894266		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	BEFREE	21829553		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	19325541	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	16876319		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28123844, 30026878		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17630431		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17630431	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32856873	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29035379, 29972820		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29602546		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24766673		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31113934		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29035379, 29972820, 30026878, 31182639		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15569994		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	19184334		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASDB_DG	21386085		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	21386085		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	BEFREE	28381879		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20607706, 24550147, 24766673, 29035379, 29972820, 30026878, 31113934		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26598443		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	26598443, 34772733, 35246212	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24766673		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	29035379		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GWASCAT_DG	19557161, 23563607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	21674055, 21778217, 23349760, 23408462, 25890290, 26800887, 27486100, 28025578, 28948079, 31167208, 34208363, 34621242, 39766774	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	21796137, 22041983, 24081236, 24670271, 25890290, 31209268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASDB_DG	23563607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	25890290	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parasomnia	Parasomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	CTD_human_DG	10802654, 19336370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	18752453, 20581741, 21643846, 21829553, 22959235, 24507797, 27465141, 28381879, 29804851, 30579973, 30897181, 31012281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	LHGDN	18752453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PATENT DUCTUS ARTERIOSUS 2	Patent ductus arteriosus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Patent Ductus Arteriosus Familial	Patent ductus arteriosus	CTD_human_DG	10802654, 19336370		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	10955477		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	15245963		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	20607706		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	20607706	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	24618610, 26168243, 31493794	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	26168243		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	26168243	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	31012281		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	15684060		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	22959235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32856873	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31113934		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31113934		★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	GWASCAT_DG	30975718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only