WNT4 (Wnt family member 4)

Gene

• Entrez ID: 54361
• Gene name: Wnt family member 4
• Gene symbol: WNT4
• Synonyms: 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:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001822	Process	Kidney development	IEP	15312687
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	ISS
GO:0005109	Function	Frizzled binding	IBA	21873635
GO:0005125	Function	Cytokine activity	IBA	21873635
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	16959810
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: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	ISS
GO:0010629	Process	Negative regulation of gene expression	IDA	15317892
GO:0010894	Process	Negative regulation of steroid biosynthetic process	IDA	15317892, 18182450
GO:0016055	Process	Wnt signaling pathway	TAS
GO:0022407	Process	Regulation of cell-cell adhesion	IEA
GO:0030182	Process	Neuron differentiation	IBA	21873635
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:0033080	Process	Immature T cell proliferation in thymus	IEA
GO:0038030	Process	Non-canonical Wnt signaling pathway via MAPK cascade	IDA	17720811
GO:0040037	Process	Negative regulation of fibroblast growth factor receptor signaling pathway	IEA
GO:0042445	Process	Hormone metabolic process	IEA
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0045165	Process	Cell fate commitment	IBA	21873635
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 transcription, DNA-templated	IMP	12949260
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	16959810, 16981135, 18182450
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS	11283799
GO:0048018	Function	Receptor ligand activity	IDA	16959810
GO:0048599	Process	Oocyte development	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:0060070	Process	Canonical Wnt signaling pathway	IBA	21873635
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	15317892, 16959810, 18182450
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: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	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:0072033	Process	Renal vesicle formation	IEA
GO:0072034	Process	Renal vesicle induction	IEA
GO:0072162	Process	Metanephric mesenchymal cell differentiation	NAS	16368682
GO:0072174	Process	Metanephric tubule formation	IEA
GO:0072273	Process	Metanephric nephron morphogenesis	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	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

Causal
Disease name	Disease term	dbSNP ID	References
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs780263938, rs756636036, rs775394591
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	11832423
Mullerian aplasia and hyperandrogenism	Mullerian Aplasia and Hyperandrogenism, Müllerian aplasia and hyperandrogenism	rs121908650, rs121908652, rs121908653	15317892, 18182450, 16959810
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Ovarian cancer	Epithelial ovarian cancer	rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393	25581431
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17013881
Serkal syndrome	SERKAL syndrome	rs121908651
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease name	Disease term	dbSNP ID	References
Acne	Acne
Cubitus valgus	Acquired cubitus valgus
Adrenal gland agenesis	Congenital absence of adrenal gland
Pulmonary hypoplasia	Congenital hypoplasia of lung	rs1569032634
Dwarfism	Dwarfism		17505543
Endometriosis	Endometriosis	rs1800629, rs1143634	28333195, 23472165, 28537267
Female urogenital diseases	Female Urogenital Diseases		16002989
Hypospadias	Hypospadias
Oral cleft	Oral cleft
Ovarian epithelial carcinoma	Carcinoma, Ovarian Epithelial		25581431
Ovotestis	Ovotestis
Physiologic amenorrhea	Primary physiologic amenorrhea
Prostatic neoplasms	Prostatic Neoplasms		17013881
Pulmonary stenosis	Pulmonary Stenosis
Renal agenesis	Congenital absence of kidneys syndrome
Sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs	Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs		18179883, 15317892
Synophrys	Synophrys
True hermaphroditism	True Hermaphroditism (disorder)
Uterine fibroids	Uterine Fibroids		30194396
Plexiform leiomyoma	Plexiform leiomyoma		30194396