WNT4 (Wnt family member 4)

Gene

• Entrez ID: 54361
• Gene name: Wnt family member 4
• Gene symbol: WNT4
• Synonyms (NCBI Gene): SERKAL, WNT-4
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryog

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908650	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908651	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908652	G>A	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006385	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT006385	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT006385	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT438738	hsa-miR-16-5p	qRT-PCR, Western blot, YFP expression	24130753
MIRT438608	hsa-miR-24-3p	Luciferase reporter assay	23027131
MIRT438738	hsa-miR-16-5p	qRT-PCR, Western blot, YFP expression	24130753
MIRT438608	hsa-miR-24-3p	Luciferase reporter assay	23027131
MIRT651521	hsa-miR-129-1-3p	HITS-CLIP	19536157
MIRT651520	hsa-miR-129-2-3p	HITS-CLIP	19536157
MIRT724146	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT724145	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT651519	hsa-miR-3183	HITS-CLIP	19536157
MIRT651518	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT651517	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT724144	hsa-miR-4469	HITS-CLIP	19536157
MIRT724143	hsa-miR-6814-3p	HITS-CLIP	19536157
MIRT724142	hsa-miR-6872-5p	HITS-CLIP	19536157
MIRT651516	hsa-miR-3615	HITS-CLIP	19536157
MIRT651514	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT651515	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT724141	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT724140	hsa-miR-642a-5p	HITS-CLIP	19536157
MIRT724139	hsa-miR-4691-5p	HITS-CLIP	19536157
MIRT724138	hsa-miR-6792-3p	HITS-CLIP	19536157
MIRT724137	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT651513	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT651510	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT724136	hsa-miR-1238-3p	HITS-CLIP	19536157
MIRT627293	hsa-miR-4328	HITS-CLIP	23824327
MIRT627288	hsa-miR-4455	HITS-CLIP	23824327
MIRT627292	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT627291	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT627290	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT627289	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT627287	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT627293	hsa-miR-4328	HITS-CLIP	23824327
MIRT627291	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT627290	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT627289	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT651523	hsa-miR-548an	HITS-CLIP	23824327
MIRT651522	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT651521	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT651520	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT651519	hsa-miR-3183	HITS-CLIP	23824327
MIRT651518	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT651517	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT651516	hsa-miR-3615	HITS-CLIP	23824327
MIRT651514	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT651515	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT651513	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT651512	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT651511	hsa-miR-527	HITS-CLIP	23824327
MIRT651510	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT627293	hsa-miR-4328	HITS-CLIP	23824327
MIRT627292	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT627291	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT627290	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT627289	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT627288	hsa-miR-4455	HITS-CLIP	23824327
MIRT627287	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT732019	hsa-miR-129-5p	Luciferase reporter assay, Western blot	27556296
MIRT732019	hsa-miR-129-5p	Luciferase reporter assay, Western blot	27556296
MIRT627291	hsa-miR-30a-3p	HITS-CLIP	27418678
MIRT627290	hsa-miR-30d-3p	HITS-CLIP	27418678
MIRT627289	hsa-miR-30e-3p	HITS-CLIP	27418678
MIRT627293	hsa-miR-4328	HITS-CLIP	27418678
MIRT627288	hsa-miR-4455	HITS-CLIP	27418678
MIRT627287	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT627292	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT735770	hsa-miR-1-3p	Luciferase reporter assay, Western blotting, qRT-PCR	31814903
MIRT651521	hsa-miR-129-1-3p	HITS-CLIP	19536157
MIRT651520	hsa-miR-129-2-3p	HITS-CLIP	19536157
MIRT724146	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT724145	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT651519	hsa-miR-3183	HITS-CLIP	19536157
MIRT651518	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT651517	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT724144	hsa-miR-4469	HITS-CLIP	19536157
MIRT724143	hsa-miR-6814-3p	HITS-CLIP	19536157
MIRT724142	hsa-miR-6872-5p	HITS-CLIP	19536157
MIRT651516	hsa-miR-3615	HITS-CLIP	19536157
MIRT651514	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT651515	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT724141	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT724140	hsa-miR-642a-5p	HITS-CLIP	19536157
MIRT724139	hsa-miR-4691-5p	HITS-CLIP	19536157
MIRT724138	hsa-miR-6792-3p	HITS-CLIP	19536157
MIRT724137	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT651513	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT651510	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT724136	hsa-miR-1238-3p	HITS-CLIP	19536157
MIRT627293	hsa-miR-4328	HITS-CLIP	23824327
MIRT627288	hsa-miR-4455	HITS-CLIP	23824327
MIRT627292	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT627291	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT627290	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT627289	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT627287	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT627293	hsa-miR-4328	HITS-CLIP	23824327
MIRT627291	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT627290	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT627289	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT651523	hsa-miR-548an	HITS-CLIP	23824327
MIRT651522	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT651521	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT651520	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT651519	hsa-miR-3183	HITS-CLIP	23824327
MIRT651518	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT651517	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT651516	hsa-miR-3615	HITS-CLIP	23824327
MIRT651514	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT651515	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT651513	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT651512	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT651511	hsa-miR-527	HITS-CLIP	23824327
MIRT651510	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT627293	hsa-miR-4328	HITS-CLIP	23824327
MIRT627292	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT627291	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT627290	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT627289	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT627288	hsa-miR-4455	HITS-CLIP	23824327
MIRT627287	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT1493743	hsa-miR-1224-5p	CLIP-seq
MIRT1493744	hsa-miR-1238	CLIP-seq
MIRT1493745	hsa-miR-129-3p	CLIP-seq
MIRT1493746	hsa-miR-1470	CLIP-seq
MIRT1493747	hsa-miR-24	CLIP-seq
MIRT1493748	hsa-miR-28-5p	CLIP-seq
MIRT1493749	hsa-miR-3139	CLIP-seq
MIRT1493750	hsa-miR-3150a-3p	CLIP-seq
MIRT1493751	hsa-miR-3155	CLIP-seq
MIRT1493752	hsa-miR-3155b	CLIP-seq
MIRT1493753	hsa-miR-3170	CLIP-seq
MIRT1493754	hsa-miR-3175	CLIP-seq
MIRT1493755	hsa-miR-3189-5p	CLIP-seq
MIRT1493756	hsa-miR-3192	CLIP-seq
MIRT1493757	hsa-miR-3194-5p	CLIP-seq
MIRT1493758	hsa-miR-3198	CLIP-seq
MIRT1493759	hsa-miR-326	CLIP-seq
MIRT1493760	hsa-miR-330-5p	CLIP-seq
MIRT1493761	hsa-miR-342-5p	CLIP-seq
MIRT1493762	hsa-miR-3612	CLIP-seq
MIRT1493763	hsa-miR-3652	CLIP-seq
MIRT1493764	hsa-miR-3657	CLIP-seq
MIRT1493765	hsa-miR-3689a-3p	CLIP-seq
MIRT1493766	hsa-miR-3689c	CLIP-seq
MIRT1493767	hsa-miR-3914	CLIP-seq
MIRT1493768	hsa-miR-3918	CLIP-seq
MIRT1493769	hsa-miR-4266	CLIP-seq
MIRT1493770	hsa-miR-4309	CLIP-seq
MIRT1493771	hsa-miR-4314	CLIP-seq
MIRT1493772	hsa-miR-432	CLIP-seq
MIRT1493773	hsa-miR-4430	CLIP-seq
MIRT1493774	hsa-miR-4453	CLIP-seq
MIRT1493775	hsa-miR-4488	CLIP-seq
MIRT1493776	hsa-miR-4505	CLIP-seq
MIRT1493777	hsa-miR-4512	CLIP-seq
MIRT1493778	hsa-miR-4538	CLIP-seq
MIRT1493779	hsa-miR-4646-5p	CLIP-seq
MIRT1493780	hsa-miR-4664-5p	CLIP-seq
MIRT1493781	hsa-miR-4667-3p	CLIP-seq
MIRT1493782	hsa-miR-4667-5p	CLIP-seq
MIRT1493783	hsa-miR-4669	CLIP-seq
MIRT1493784	hsa-miR-4695-5p	CLIP-seq
MIRT1493785	hsa-miR-4697-5p	CLIP-seq
MIRT1493786	hsa-miR-4700-5p	CLIP-seq
MIRT1493787	hsa-miR-4704-5p	CLIP-seq
MIRT1493788	hsa-miR-4728-5p	CLIP-seq
MIRT1493789	hsa-miR-4731-5p	CLIP-seq
MIRT1493790	hsa-miR-4751	CLIP-seq
MIRT1493791	hsa-miR-4758-3p	CLIP-seq
MIRT1493792	hsa-miR-4764-5p	CLIP-seq
MIRT1493793	hsa-miR-4773	CLIP-seq
MIRT1493794	hsa-miR-4779	CLIP-seq
MIRT1493795	hsa-miR-484	CLIP-seq
MIRT1493796	hsa-miR-486-5p	CLIP-seq
MIRT1493797	hsa-miR-503	CLIP-seq
MIRT1493798	hsa-miR-541	CLIP-seq
MIRT1493799	hsa-miR-548ac	CLIP-seq
MIRT1493800	hsa-miR-548d-3p	CLIP-seq
MIRT1493801	hsa-miR-548z	CLIP-seq
MIRT1493802	hsa-miR-615-5p	CLIP-seq
MIRT1493803	hsa-miR-635	CLIP-seq
MIRT1493804	hsa-miR-637	CLIP-seq
MIRT1493805	hsa-miR-642a	CLIP-seq
MIRT1493806	hsa-miR-647	CLIP-seq
MIRT1493807	hsa-miR-650	CLIP-seq
MIRT1493808	hsa-miR-651	CLIP-seq
MIRT1493809	hsa-miR-654-5p	CLIP-seq
MIRT1493810	hsa-miR-665	CLIP-seq
MIRT1493811	hsa-miR-708	CLIP-seq
MIRT1493812	hsa-miR-711	CLIP-seq
MIRT1493813	hsa-miR-767-5p	CLIP-seq
MIRT1493814	hsa-miR-939	CLIP-seq
MIRT1493768	hsa-miR-3918	CLIP-seq
MIRT1493777	hsa-miR-4512	CLIP-seq
MIRT1493793	hsa-miR-4773	CLIP-seq
MIRT1493796	hsa-miR-486-5p	CLIP-seq
MIRT2369194	hsa-miR-1273g	CLIP-seq
MIRT2369195	hsa-miR-1285	CLIP-seq
MIRT2369196	hsa-miR-1913	CLIP-seq
MIRT2369197	hsa-miR-3187-5p	CLIP-seq
MIRT2369198	hsa-miR-324-3p	CLIP-seq
MIRT2369199	hsa-miR-4487	CLIP-seq
MIRT2369200	hsa-miR-612	CLIP-seq
MIRT2369201	hsa-miR-670	CLIP-seq
MIRT2369202	hsa-miR-876-3p	CLIP-seq
MIRT2397026	hsa-miR-661	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EGR1	Repression	18281035
EGR1	Unknown	21436631
RUNX3	Repression	22171134
TCF4	Unknown	21436631

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001656	Process	Metanephros development	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001822	Process	Kidney development	IEP	15312687
GO:0001823	Process	Mesonephros development	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	IEP	12841867
GO:0001838	Process	Embryonic epithelial tube formation	IEA
GO:0001889	Process	Liver development	IEP	15312687
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	ISS
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005109	Function	Frizzled binding	IBA
GO:0005109	Function	Frizzled binding	IEA
GO:0005125	Function	Cytokine activity	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	16959810
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IDA	16959810
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007276	Process	Gamete generation	IEA
GO:0007548	Process	Sex differentiation	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	IEP	17848411
GO:0008584	Process	Male gonad development	IMP	11283799
GO:0008585	Process	Female gonad development	IEA
GO:0009267	Process	Cellular response to starvation	IEA
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0010629	Process	Negative regulation of gene expression	IDA	15317892
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010894	Process	Negative regulation of steroid biosynthetic process	IDA	15317892, 18182450
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0022407	Process	Regulation of cell-cell adhesion	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030237	Process	Female sex determination	IMP	11283799
GO:0030325	Process	Adrenal gland development	IEP	12844346
GO:0030336	Process	Negative regulation of cell migration	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IDA	17720811
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0031012	Component	Extracellular matrix	IEA
GO:0032349	Process	Positive regulation of aldosterone biosynthetic process	IDA	16981135
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IDA	17720811
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033080	Process	Immature T cell proliferation in thymus	IEA
GO:0035239	Process	Tube morphogenesis	IEA
GO:0035567	Process	Non-canonical Wnt signaling pathway	IDA	17720811
GO:0035567	Process	Non-canonical Wnt signaling pathway	IEA
GO:0040037	Process	Negative regulation of fibroblast growth factor receptor signaling pathway	IEA
GO:0042445	Process	Hormone metabolic process	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	17720811
GO:0045165	Process	Cell fate commitment	IBA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IDA	17720811
GO:0045836	Process	Positive regulation of meiotic nuclear division	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	12949260
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16959810, 16981135, 18182450
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS	11283799
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IEA
GO:0048018	Function	Receptor ligand activity	IDA	16959810
GO:0048599	Process	Oocyte development	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0051496	Process	Positive regulation of stress fiber assembly	IEA
GO:0051894	Process	Positive regulation of focal adhesion assembly	IEA
GO:0060008	Process	Sertoli cell differentiation	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	15317892, 16959810, 18182450
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060126	Process	Somatotropin secreting cell differentiation	IEA
GO:0060129	Process	Thyroid-stimulating hormone-secreting cell differentiation	IEA
GO:0060231	Process	Mesenchymal to epithelial transition	IEA
GO:0060748	Process	Tertiary branching involved in mammary gland duct morphogenesis	IEA
GO:0060993	Process	Kidney morphogenesis	IEA
GO:0061045	Process	Negative regulation of wound healing	IEA
GO:0061180	Process	Mammary gland epithelium development	IEP	8168088
GO:0061184	Process	Positive regulation of dermatome development	IDA	10654605
GO:0061205	Process	Paramesonephric duct development	IEA
GO:0061205	Process	Paramesonephric duct development	IMP	18182450
GO:0061369	Process	Negative regulation of testicular blood vessel morphogenesis	IMP	12949260
GO:0070062	Component	Extracellular exosome	TAS
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEP	15040835
GO:0072006	Process	Nephron development	IEA
GO:0072033	Process	Renal vesicle formation	IEA
GO:0072034	Process	Renal vesicle induction	IEA
GO:0072162	Process	Metanephric mesenchymal cell differentiation	NAS	16368682
GO:0072164	Process	Mesonephric tubule development	IEA
GO:0072174	Process	Metanephric tubule formation	IEA
GO:0072210	Process	Metanephric nephron development	IEA
GO:0072273	Process	Metanephric nephron morphogenesis	IEA
GO:0097190	Process	Apoptotic signaling pathway	IEA
GO:0140013	Process	Meiotic nuclear division	IEA
GO:1904238	Process	Pericyte cell differentiation	IEA
GO:2000019	Process	Negative regulation of male gonad development	IMP	11283799
GO:2000066	Process	Positive regulation of cortisol biosynthetic process	IDA	16981135
GO:2000180	Process	Negative regulation of androgen biosynthetic process	IDA	16959810
GO:2000225	Process	Negative regulation of testosterone biosynthetic process	IEA
GO:2000225	Process	Negative regulation of testosterone biosynthetic process	IMP	12949260
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IEA

Other IDs

• MIM: 603490
• HGNC: 12783
• e!Ensembl: ENSG00000162552

Protein

• UniProt ID: P56705
• Protein name: Protein Wnt-4
• Protein function: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Plays an important role in the embryonic development of the urogenital tract and the lung (PubMed:15317892, PubMed:16959810, PubMed:18179883, PubMed:18182450)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00110	wnt	45 → 351	wnt family	Family

• Sequence:

  MSPRSCLRSLRLLVFAVFSAAASNWLYLAKLSSVGSISEEETCEKLKGLIQRQVQMCKRN
  LEVMDSVRRGAQLAIEECQYQFRNRRWNCSTLDSLPVFGKVVTQGTREAAFVYAISSAGV
  AFAVTRACSSGELEKCGCDRTVHGVSPQGFQWSGCSDNIAYGVAFSQSFVDVRERSKGAS
  SSRALMNLHNNEAGRKAILTHMRVECKCHGVSGSCEVKTCWRAVPPFRQVGHALKEKFDG
  ATEVEPRRVGSSRALVPRNAQFKPHTDEDLVYLEPSPDFCEQDMRSGVLGTRGRTCNKTS
  KAIDGCELLCCGRGFHTAQVELAERCSCKFHWCCFVKCRQCQRLVELHTCR

• Sequence length: 351

Pathways

KEGG:

mTOR signaling pathway
Wnt signaling pathway
Axon guidance
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Thyroid hormone signaling pathway
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
PCP/CE pathway

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
Mullerian aplasia and hyperandrogenism	Pathogenic	rs121908650, rs121908652, rs121908653	RCV000006688 RCV000006690 RCV000006691	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SERKAL syndrome	Pathogenic	rs121908651	RCV000006689	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
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
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, OVARIAN EPITHELIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DWARFISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE INFERTILITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE UROGENITAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAYER-ROKITANSKY-KUSTER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mayer-Rokitansky-Kuster-Hauser syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WNT4-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	LHGDN	18553255		★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	BEFREE	18391521		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	30924074	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	29505605	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	20709709		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16501043, 27323961, 30194396		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	31740580, 38112643	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18553255		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	11348463	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18577996	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	27650553, 38112643	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15615770		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33804101	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	12841867, 25901368	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25581431, 30457351		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	CTD_human_DG	25581431		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	BEFREE	31637011		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31637011		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	24871321, 29248448		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29248448, 31067548		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	23370438, 23463699		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25990418		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36303457	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of adrenal gland	Adrenal gland agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	BEFREE	29377931		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	18553255		★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	29237155		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24096177		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	36303457	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	31957842	Stimulate	★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	39285472	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	16959810, 26573569, 31746433	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	19011014	Associate	★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	21732829	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	CTD_human_DG	17505543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endocrine System Diseases	Endocrine system disease	Pubtator	27650553	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	9099960		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	9099960	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	20601957, 23142796, 25154675, 25682310, 26139156, 26363035, 28171565, 28901453, 30194396, 31821471		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	22259059, 23472165, 25154675, 25296917, 26139156, 28901453, 30010178	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	GWASDB_DG	23472165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	GWASCAT_DG	23472165, 28333195, 28537267		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	24661731	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelial ovarian cancer	Ovarian cancer	BEFREE	25581431, 30457351		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	GWASCAT_DG	25581431		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	25270402		★☆☆☆☆ Found in Text Mining only
Female Urogenital Diseases	Female Urogenital Diseases	CTD_human_DG	16002989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibroadenoma	Fibroadenoma	BEFREE	8168088		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31776823		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	31067548	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	31067548	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	31067548, 35886848	Associate	★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	19875303		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	34519627, 35673578	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	24274766		★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	26111189	Associate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	19165657, 21377155, 24356390, 27716927, 28434104		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	21377155, 24641817, 37124138	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28383024		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	26139156, 36303457	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	11832423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	31067548		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	31067548	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic	Kidney failure	Pubtator	28901453	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30002385		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	24871321, 29248448		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	26820714, 32892998, 35689443	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24274766		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24274766	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29429512		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	31067548	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16501043, 27323961, 30194396		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15615770		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24274766, 28740671, 29367766, 29429512		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31637011		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36303457	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis III	Mucopolysaccharidosis	Pubtator	26458489	Stimulate	★☆☆☆☆ Found in Text Mining only
Mullerian Aplasia and Hyperandrogenism	Mullerian Aplasia And Hyperandrogenism	GENOMICS_ENGLAND_DG	15317892		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mullerian Aplasia and Hyperandrogenism	Mullerian Aplasia And Hyperandrogenism	UNIPROT_DG	15317892, 16959810, 18182450		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mullerian Aplasia and Hyperandrogenism	Mullerian Aplasia And Hyperandrogenism	ORPHANET_DG	16959810, 18182450		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mullerian Aplasia and Hyperandrogenism	Mullerian Aplasia And Hyperandrogenism	BEFREE	31175162		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mullerian Aplasia and Hyperandrogenism	Mullerian Aplasia And Hyperandrogenism	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mullerian Aplasia and Hyperandrogenism	Mullerian Aplasia And Hyperandrogenism	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
	Mullerian Aplasia And Hyperandrogenism	Orphanet			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	28059551	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18553255, 22552364, 27323961, 28740671, 30457351, 8168088		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	26154924, 27990711		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	35886848	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24885183, 28272483		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	28272483	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	21624127, 22951804		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	38112643	Associate	★☆☆☆☆ Found in Text Mining only
Ovotestis	Ovotestis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	30341100		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30526176		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	29363326		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	19034702		★☆☆☆☆ Found in Text Mining only
Plexiform leiomyoma	Plexiform leiomyoma	GWASCAT_DG	30194396		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	17071531		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	21624127, 22951804		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	BEFREE	18182450		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	31067548		★☆☆☆☆ Found in Text Mining only
SERKAL syndrome	Serkal Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	21129722, 31746433		★☆☆☆☆ Found in Text Mining only
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs	Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs	GENOMICS_ENGLAND_DG	15317892		★☆☆☆☆ Found in Text Mining only
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs	Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs	ORPHANET_DG	18179883		★☆☆☆☆ Found in Text Mining only
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs	Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs	UNIPROT_DG	18179883		★☆☆☆☆ Found in Text Mining only
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs	Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12841867		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12841867		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25995617	Associate	★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	28740671, 29387212		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26458489, 32471192	Associate	★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30475758	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	GWASCAT_DG	30194396		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	34311961	Associate	★☆☆☆☆ Found in Text Mining only