WNT2B (Wnt family member 2B)

Gene

• Entrez ID: 7482
• Gene name: Wnt family member 2B
• Gene symbol: WNT2B
• Synonyms (NCBI Gene): WNT13
• Chromosome: 1
• Chromosome location: 1p13.2
• Summary: This gene encodes a member of the wingless-type MMTV integration site (WNT) family of highly conserved, secreted signaling factors. WNT family members function in a variety of developmental processes including regulation of cell growth and differentiation

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs370244148	C>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, synonymous variant, stop gained
rs879255420	C>T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT437828	hsa-miR-324-3p	Luciferase reporter assay	23583221
MIRT437828	hsa-miR-324-3p	Luciferase reporter assay	23583221
MIRT437828	hsa-miR-324-3p	qRT-PCR	24367666
MIRT438036	hsa-miR-93-5p	qRT-PCR	24367666
MIRT437828	hsa-miR-324-3p	qRT-PCR	24367666
MIRT438036	hsa-miR-93-5p	qRT-PCR	24367666
MIRT610546	hsa-miR-8485	HITS-CLIP	19536157
MIRT610547	hsa-miR-603	HITS-CLIP	19536157
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	19536157
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	19536157
MIRT610543	hsa-miR-152-3p	HITS-CLIP	19536157
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	19536157
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	19536157
MIRT679199	hsa-miR-4438	HITS-CLIP	23824327
MIRT679198	hsa-miR-4258	HITS-CLIP	23824327
MIRT651529	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT651528	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT651527	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT651526	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT679197	hsa-miR-1976	HITS-CLIP	23824327
MIRT679196	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT651525	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT679195	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT679194	hsa-miR-3199	HITS-CLIP	23824327
MIRT679193	hsa-miR-8052	HITS-CLIP	23824327
MIRT679192	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT679191	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT679190	hsa-miR-5095	HITS-CLIP	23824327
MIRT679189	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT651524	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT679188	hsa-miR-4279	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT651530	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT651529	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT651528	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT651527	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT651526	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT651525	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT651524	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT627294	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT496803	hsa-miR-3613-3p	PAR-CLIP	22291592
MIRT496802	hsa-miR-3619-3p	PAR-CLIP	22291592
MIRT496801	hsa-miR-4776-5p	PAR-CLIP	22291592
MIRT437828	hsa-miR-324-3p	qRT-PCR, Western blot	28053597
MIRT733130	hsa-miR-145-5p	FACS, Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	31933762
MIRT610546	hsa-miR-8485	HITS-CLIP	19536157
MIRT610547	hsa-miR-603	HITS-CLIP	19536157
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	19536157
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	19536157
MIRT610543	hsa-miR-152-3p	HITS-CLIP	19536157
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	19536157
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	19536157
MIRT679199	hsa-miR-4438	HITS-CLIP	23824327
MIRT679198	hsa-miR-4258	HITS-CLIP	23824327
MIRT651529	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT651528	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT651527	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT651526	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT679197	hsa-miR-1976	HITS-CLIP	23824327
MIRT679196	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT651525	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT679195	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT679194	hsa-miR-3199	HITS-CLIP	23824327
MIRT679193	hsa-miR-8052	HITS-CLIP	23824327
MIRT679192	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT679191	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT679190	hsa-miR-5095	HITS-CLIP	23824327
MIRT679189	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT651524	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT679188	hsa-miR-4279	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT651530	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT651529	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT651528	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT651527	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT651526	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT651525	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT651524	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT627294	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT610546	hsa-miR-8485	HITS-CLIP	23824327
MIRT610547	hsa-miR-603	HITS-CLIP	23824327
MIRT610545	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT610544	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT610543	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT610542	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT610541	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT496803	hsa-miR-3613-3p	PAR-CLIP	22291592
MIRT496802	hsa-miR-3619-3p	PAR-CLIP	22291592
MIRT496801	hsa-miR-4776-5p	PAR-CLIP	22291592
MIRT755791	hsa-miR-4784	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP)	36980789
MIRT1493641	hsa-miR-1266	CLIP-seq
MIRT1493642	hsa-miR-130a	CLIP-seq
MIRT1493643	hsa-miR-130b	CLIP-seq
MIRT1493644	hsa-miR-135a	CLIP-seq
MIRT1493645	hsa-miR-135b	CLIP-seq
MIRT1493646	hsa-miR-15a	CLIP-seq
MIRT1493647	hsa-miR-15b	CLIP-seq
MIRT1493648	hsa-miR-16	CLIP-seq
MIRT1493649	hsa-miR-1915	CLIP-seq
MIRT1493650	hsa-miR-195	CLIP-seq
MIRT1493651	hsa-miR-301a	CLIP-seq
MIRT1493652	hsa-miR-301b	CLIP-seq
MIRT1493653	hsa-miR-3121-3p	CLIP-seq
MIRT1493654	hsa-miR-3155	CLIP-seq
MIRT1493655	hsa-miR-3155b	CLIP-seq
MIRT1493656	hsa-miR-3591-5p	CLIP-seq
MIRT1493657	hsa-miR-3664-3p	CLIP-seq
MIRT1493658	hsa-miR-3666	CLIP-seq
MIRT1493659	hsa-miR-424	CLIP-seq
MIRT1493660	hsa-miR-4295	CLIP-seq
MIRT1493661	hsa-miR-4328	CLIP-seq
MIRT1493662	hsa-miR-4473	CLIP-seq
MIRT1493663	hsa-miR-4476	CLIP-seq
MIRT1493664	hsa-miR-4518	CLIP-seq
MIRT1493665	hsa-miR-4524	CLIP-seq
MIRT1493666	hsa-miR-454	CLIP-seq
MIRT1493667	hsa-miR-4639-3p	CLIP-seq
MIRT1493668	hsa-miR-4671-3p	CLIP-seq
MIRT1493669	hsa-miR-4690-3p	CLIP-seq
MIRT1493670	hsa-miR-484	CLIP-seq
MIRT1493671	hsa-miR-497	CLIP-seq
MIRT1493672	hsa-miR-503	CLIP-seq
MIRT1493673	hsa-miR-646	CLIP-seq
MIRT1493674	hsa-miR-765	CLIP-seq
MIRT1493675	hsa-miR-891b	CLIP-seq
MIRT2148787	hsa-miR-2355-3p	CLIP-seq
MIRT2148788	hsa-miR-4646-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GLI2	Activation	19360354

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002062	Process	Chondrocyte differentiation	IEP	15135146
GO:0002088	Process	Lens development in camera-type eye	ISS	16258938
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005109	Function	Frizzled binding	IBA
GO:0005125	Function	Cytokine activity	IBA
GO:0005515	Function	Protein binding	IPI	38489235
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	NAS	15135146
GO:0008584	Process	Male gonad development	IEP	17848411
GO:0009267	Process	Cellular response to starvation	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0021871	Process	Forebrain regionalization	IEA
GO:0021871	Process	Forebrain regionalization	IEP	15164427
GO:0030182	Process	Neuron differentiation	IBA
GO:0030182	Process	Neuron differentiation	ISS
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0045165	Process	Cell fate commitment	IBA
GO:0048513	Process	Animal organ development	IEA
GO:0048731	Process	System development	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	11741304
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IMP	15135146
GO:0060492	Process	Lung induction	IEA
GO:0060638	Process	Mesenchymal-epithelial cell signaling	IEA
GO:0061072	Process	Iris morphogenesis	ISS	16258938
GO:0061303	Process	Cornea development in camera-type eye	ISS	16258938
GO:0071425	Process	Hematopoietic stem cell proliferation	IDA	9787155
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	IEA

Other IDs

• MIM: 601968
• HGNC: 12781
• e!Ensembl: ENSG00000134245

Protein

• UniProt ID: Q93097
• Protein name: Protein Wnt-2b (Protein Wnt-13)
• Protein function: Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt/beta-catenin signaling pathway. Plays a redundant role in embryonic lung development.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00110	wnt	74 → 380	wnt family	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is expressed in adult heart, brain, placenta, lung, prostate, testis, ovary, small intestine and colon. In the adult brain, it is mainly found in the caudate nucleus, subthalamic nucleus and thalamus. Also detected in fetal b
• Sequence:

  MLRPGGAEEAAQLPLRRASAPVPVPSPAAPDGSRASARLGLACLLLLLLLTLPARVDTSW
  WYIGALGARVICDNIPGLVSRQRQLCQRYPDIMRSVGEGAREWIRECQHQFRHHRWNCTT
  LDRDHTVFGRVMLRSSREAAFVYAISSAGVVHAITRACSQGELSVCSCDPYTRGRHHDQR
  GDFDWGGCSDNIHYGVRFAKAFVDAKEKRLKDARALMNLHNNRCGRTAVRRFLKLECKCH
  GVSGSCTLRTCWRALSDFRRTGDYLRRRYDGAVQVMATQDGANFTAARQGYRRATRTDLV
  YFDNSPDYCVLDKAAGSLGTAGRVCSKTSKGTDGCEIMCCGRGYDTTRVTRVTQCECKFH
  WCCAVRCKECRNTVDVHTCKAPKKAEWLDQT

• Sequence length: 391

Pathways

KEGG:

mTOR signaling pathway
Wnt signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer

Reactome:

WNT ligand biogenesis and trafficking

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
Chronic diarrhea	Likely pathogenic	rs370244148	RCV000656393	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diarrhea	Likely pathogenic	rs370244148	RCV000656393	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diarrhea 9	Likely pathogenic	rs370244148	RCV000714963	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Failure to thrive	Likely pathogenic	rs370244148	RCV000656393	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Failure to thrive in infancy	Likely pathogenic	rs370244148	RCV000656393	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Impaired feeding ability	Likely pathogenic	rs370244148	RCV000656393	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ALDOSTERONISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WNT2B-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Cerebrovascular Accidents	Stroke	CTD_human_DG	29531354		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	17614820		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	19650845		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	32799327	Associate	★☆☆☆☆ Found in Text Mining only
Anterior segment mesenchymal dysgenesis	Anterior segment mesenchymal dysgenesis	Pubtator	33526876	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	18606951	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	12049819		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33746192, 35660418	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	11348463	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33407720	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31486486	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29568882	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22635028		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	CTD_human_DG	29531354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	GWASCAT_DG	29531354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	BEFREE	8761309		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	8761309		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28560804		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28560804	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	31359032		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	28499756		★☆☆☆☆ Found in Text Mining only
De Barsy syndrome	De barsy syndrome	Pubtator	33526876	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	33526876	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Disorders of Sex Development	Disorders of sex development	Pubtator	33526876	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	16273293		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28638086		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32495889	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29387236		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	30487518		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	33526876	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22635028		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	8761309		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11712082, 21646015, 29551019		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	8761309		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28499756		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	28499756	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	28499756	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	24755605		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	28059551	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	23583221, 25297925, 28053597, 28454443		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	25297925	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25356045		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	26548512		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30015869		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29108989		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	31215527	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	12072409		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	22635028		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	GWASCAT_DG	26098869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25120849	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29917177, 31215527		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	31215527	Associate	★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	11488641		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	8761309		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	16273293		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34284078, 40093675	Associate	★☆☆☆☆ Found in Text Mining only