RSPO3 (R-spondin 3)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 84870
• Gene name: R-spondin 3
• Gene symbol: RSPO3
• Synonyms (NCBI Gene): CRISTIN1, PWTSR, THSD2
• Chromosome: 6
• Chromosome location: 6q22.33
• Summary: This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell g

miRNA Show/Hide all (146)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017040	hsa-miR-335-5p	Microarray	18185580
MIRT1321411	hsa-miR-3163	CLIP-seq
MIRT1321412	hsa-miR-3619-3p	CLIP-seq
MIRT1321413	hsa-miR-4503	CLIP-seq
MIRT1321414	hsa-miR-4659a-3p	CLIP-seq
MIRT1321415	hsa-miR-4659b-3p	CLIP-seq
MIRT1321416	hsa-miR-4668-3p	CLIP-seq
MIRT1321417	hsa-miR-4776-5p	CLIP-seq
MIRT1321418	hsa-miR-4800-5p	CLIP-seq
MIRT1321419	hsa-miR-576-5p	CLIP-seq
MIRT2095428	hsa-miR-188-5p	CLIP-seq
MIRT2095429	hsa-miR-409-3p	CLIP-seq
MIRT2095430	hsa-miR-4269	CLIP-seq
MIRT2095431	hsa-miR-4438	CLIP-seq
MIRT2095432	hsa-miR-5095	CLIP-seq
MIRT2319814	hsa-miR-1252	CLIP-seq
MIRT2319815	hsa-miR-1265	CLIP-seq
MIRT2319816	hsa-miR-141	CLIP-seq
MIRT2319817	hsa-miR-200a	CLIP-seq
MIRT2319818	hsa-miR-3121-5p	CLIP-seq
MIRT2615614	hsa-miR-103a	CLIP-seq
MIRT2615615	hsa-miR-107	CLIP-seq
MIRT2615616	hsa-miR-125a-3p	CLIP-seq
MIRT2615617	hsa-miR-1270	CLIP-seq
MIRT2615618	hsa-miR-128	CLIP-seq
MIRT2615619	hsa-miR-1283	CLIP-seq
MIRT2615620	hsa-miR-1285	CLIP-seq
MIRT2615621	hsa-miR-1343	CLIP-seq
MIRT2615622	hsa-miR-15a	CLIP-seq
MIRT2615623	hsa-miR-15b	CLIP-seq
MIRT2615624	hsa-miR-16	CLIP-seq
MIRT2615625	hsa-miR-194	CLIP-seq
MIRT2615626	hsa-miR-195	CLIP-seq
MIRT2615627	hsa-miR-205	CLIP-seq
MIRT2615628	hsa-miR-216a	CLIP-seq
MIRT2615629	hsa-miR-216b	CLIP-seq
MIRT2615630	hsa-miR-2278	CLIP-seq
MIRT2615631	hsa-miR-27a	CLIP-seq
MIRT2615632	hsa-miR-27b	CLIP-seq
MIRT2615633	hsa-miR-3187-5p	CLIP-seq
MIRT2615634	hsa-miR-338-5p	CLIP-seq
MIRT2615635	hsa-miR-3618	CLIP-seq
MIRT2615636	hsa-miR-3663-3p	CLIP-seq
MIRT2615637	hsa-miR-376c	CLIP-seq
MIRT2615638	hsa-miR-3925-3p	CLIP-seq
MIRT2615639	hsa-miR-3929	CLIP-seq
MIRT2615640	hsa-miR-3936	CLIP-seq
MIRT2615641	hsa-miR-3945	CLIP-seq
MIRT2615642	hsa-miR-410	CLIP-seq
MIRT2615643	hsa-miR-424	CLIP-seq
MIRT2615644	hsa-miR-4253	CLIP-seq
MIRT2615645	hsa-miR-4267	CLIP-seq
MIRT2095430	hsa-miR-4269	CLIP-seq
MIRT2615646	hsa-miR-4328	CLIP-seq
MIRT2615647	hsa-miR-4419b	CLIP-seq
MIRT2615648	hsa-miR-4422	CLIP-seq
MIRT2095431	hsa-miR-4438	CLIP-seq
MIRT2615649	hsa-miR-4473	CLIP-seq
MIRT2615650	hsa-miR-4474-5p	CLIP-seq
MIRT2615651	hsa-miR-4478	CLIP-seq
MIRT2615652	hsa-miR-4524	CLIP-seq
MIRT2615653	hsa-miR-4531	CLIP-seq
MIRT2615654	hsa-miR-4663	CLIP-seq
MIRT2615655	hsa-miR-4803	CLIP-seq
MIRT2615656	hsa-miR-485-5p	CLIP-seq
MIRT2615657	hsa-miR-490-5p	CLIP-seq
MIRT2615658	hsa-miR-497	CLIP-seq
MIRT2615659	hsa-miR-500a	CLIP-seq
MIRT2615660	hsa-miR-503	CLIP-seq
MIRT2095432	hsa-miR-5095	CLIP-seq
MIRT2615661	hsa-miR-512-3p	CLIP-seq
MIRT2615662	hsa-miR-513a-5p	CLIP-seq
MIRT2615663	hsa-miR-520f	CLIP-seq
MIRT2615664	hsa-miR-548n	CLIP-seq
MIRT2615665	hsa-miR-552	CLIP-seq
MIRT2615666	hsa-miR-563	CLIP-seq
MIRT2615667	hsa-miR-612	CLIP-seq
MIRT2615668	hsa-miR-620	CLIP-seq
MIRT2615669	hsa-miR-627	CLIP-seq
MIRT2615670	hsa-miR-646	CLIP-seq
MIRT2615671	hsa-miR-766	CLIP-seq
MIRT2615672	hsa-miR-769-5p	CLIP-seq
MIRT2615673	hsa-miR-924	CLIP-seq
MIRT2615614	hsa-miR-103a	CLIP-seq
MIRT2615615	hsa-miR-107	CLIP-seq
MIRT2615616	hsa-miR-125a-3p	CLIP-seq
MIRT2615617	hsa-miR-1270	CLIP-seq
MIRT2615618	hsa-miR-128	CLIP-seq
MIRT2615619	hsa-miR-1283	CLIP-seq
MIRT2615620	hsa-miR-1285	CLIP-seq
MIRT2615621	hsa-miR-1343	CLIP-seq
MIRT2615622	hsa-miR-15a	CLIP-seq
MIRT2615623	hsa-miR-15b	CLIP-seq
MIRT2615624	hsa-miR-16	CLIP-seq
MIRT2615625	hsa-miR-194	CLIP-seq
MIRT2615626	hsa-miR-195	CLIP-seq
MIRT2615627	hsa-miR-205	CLIP-seq
MIRT2615628	hsa-miR-216a	CLIP-seq
MIRT2615629	hsa-miR-216b	CLIP-seq
MIRT2615630	hsa-miR-2278	CLIP-seq
MIRT2615631	hsa-miR-27a	CLIP-seq
MIRT2615632	hsa-miR-27b	CLIP-seq
MIRT2615633	hsa-miR-3187-5p	CLIP-seq
MIRT2615634	hsa-miR-338-5p	CLIP-seq
MIRT2615635	hsa-miR-3618	CLIP-seq
MIRT2615636	hsa-miR-3663-3p	CLIP-seq
MIRT2615637	hsa-miR-376c	CLIP-seq
MIRT2615638	hsa-miR-3925-3p	CLIP-seq
MIRT2615639	hsa-miR-3929	CLIP-seq
MIRT2615640	hsa-miR-3936	CLIP-seq
MIRT2615641	hsa-miR-3945	CLIP-seq
MIRT2615642	hsa-miR-410	CLIP-seq
MIRT2615643	hsa-miR-424	CLIP-seq
MIRT2615644	hsa-miR-4253	CLIP-seq
MIRT2615645	hsa-miR-4267	CLIP-seq
MIRT2095430	hsa-miR-4269	CLIP-seq
MIRT2615646	hsa-miR-4328	CLIP-seq
MIRT2615647	hsa-miR-4419b	CLIP-seq
MIRT2615648	hsa-miR-4422	CLIP-seq
MIRT2095431	hsa-miR-4438	CLIP-seq
MIRT2615649	hsa-miR-4473	CLIP-seq
MIRT2615650	hsa-miR-4474-5p	CLIP-seq
MIRT2615651	hsa-miR-4478	CLIP-seq
MIRT2615652	hsa-miR-4524	CLIP-seq
MIRT2615653	hsa-miR-4531	CLIP-seq
MIRT2615654	hsa-miR-4663	CLIP-seq
MIRT2615655	hsa-miR-4803	CLIP-seq
MIRT2615656	hsa-miR-485-5p	CLIP-seq
MIRT2615657	hsa-miR-490-5p	CLIP-seq
MIRT2615658	hsa-miR-497	CLIP-seq
MIRT2615659	hsa-miR-500a	CLIP-seq
MIRT2615660	hsa-miR-503	CLIP-seq
MIRT2095432	hsa-miR-5095	CLIP-seq
MIRT2615661	hsa-miR-512-3p	CLIP-seq
MIRT2615662	hsa-miR-513a-5p	CLIP-seq
MIRT2615663	hsa-miR-520f	CLIP-seq
MIRT2615664	hsa-miR-548n	CLIP-seq
MIRT2615665	hsa-miR-552	CLIP-seq
MIRT2615666	hsa-miR-563	CLIP-seq
MIRT2615667	hsa-miR-612	CLIP-seq
MIRT2615668	hsa-miR-620	CLIP-seq
MIRT2615669	hsa-miR-627	CLIP-seq
MIRT2615670	hsa-miR-646	CLIP-seq
MIRT2615671	hsa-miR-766	CLIP-seq
MIRT2615672	hsa-miR-769-5p	CLIP-seq
MIRT2615673	hsa-miR-924	CLIP-seq

Gene ontology (GO) Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0001974	Process	Blood vessel remodeling	ISS
GO:0002040	Process	Sprouting angiogenesis	IEA
GO:0002040	Process	Sprouting angiogenesis	ISS
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	IPI	22615920
GO:0005109	Function	Frizzled binding	IBA
GO:0005109	Function	Frizzled binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	24431302
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0008201	Function	Heparin binding	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IDA	29769720
GO:0030177	Process	Positive regulation of Wnt signaling pathway	NAS	24431302
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060670	Process	Branching involved in labyrinthine layer morphogenesis	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IBA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:2000052	Process	Positive regulation of non-canonical Wnt signaling pathway	IEA
GO:2000052	Process	Positive regulation of non-canonical Wnt signaling pathway	ISS
GO:2000096	Process	Positive regulation of Wnt signaling pathway, planar cell polarity pathway	TAS	24431302

Other IDs

• MIM: 610574
• HGNC: 20866
• e!Ensembl: ENSG00000146374

Protein

• UniProt ID: Q9BXY4
• Protein name: R-spondin-3 (Protein with TSP type-1 repeat) (hPWTSR) (Roof plate-specific spondin-3) (hRspo3) (Thrombospondin type-1 domain-containing protein 2)
• Protein function: Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors, which acts as a key regulator of angiogenesis. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled recep
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15913	Furin-like_2	41 → 142	Furin-like repeat, cysteine-rich	Domain
  PF19028	TSP1_spondin	148 → 206	Spondin-like TSP1 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. Expressed at higher level in placenta, small intestine, fetal thymus and lymph node (PubMed:12463421). Highly expressed in endothelial cells (PubMed:26766444). {ECO:0000269|PubMed:12463421, ECO:0000269|PubMed:26
• Sequence:

  MHLRLISWLFIILNFMEYIGSQNASRGRRQRRMHPNVSQGCQGGCATCSDYNGCLSCKPR
  LFFALERIGMKQIGVCLSSCPSGYYGTRYPDINKCTKCKADCDTCFNKNFCTKCKSGFYL
  HLGKCLDNCPEGLEANNHTMECVSIVHCEVSEWNPWSPCTKKGKTCGFKRGTETRVREII
  QHPSAKGNLCPPTNETRKCTVQRKKCQKGERGKKGRERKRKKPNKGESKEAIPDSKSLES
  SKEIPEQRENKQQQKKRKVQDKQKSVSVSTVH

• Sequence length: 272

Pathways

KEGG Pathway	Reactome Pathway
Wnt signaling pathway	Regulation of FZD by ubiquitination
	RUNX1 regulates transcription of genes involved in WNT signaling

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)

Unknown / Other Associations Show/Hide Unknown Diseases (28)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	39023044	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	27182965, 28196072	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	36738649	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	37919453	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	17468756	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	28284560	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	30595370	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	37069358	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	41022758	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	23128233, 26192919, 28067908, 37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	37544299, 40069456	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	30487518, 31879980, 37947095, 38965376, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	23128233, 26192919, 28067908, 37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	39023044	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	31589552, 39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	35047847	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	34594039	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	28779025	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	37151119	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	30054458, 30297969, 30718926, 31589552, 32541925, 35551307, 36738649, 38374256, 38685053, 39349817, 39379762, 40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	40050615	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (52)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25531322, 31579414		★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	26733130		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30329043		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	17468756		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29748375		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33320737	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	36129915	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	24847761		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30329043		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25531322, 31579414		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37932819	Inhibit	★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	28779025, 29055915	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	31851527		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	35218958	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27046199		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25531322		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	22895193	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	22895193		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33320737	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24847761, 25531322, 27511199, 28100566, 29127379		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22895193, 28100566, 35254413, 36129915, 37998393	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	29127379		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33320737	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	23128233, 26192919, 28067908		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	23128233		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	27046199		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30337838		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30337838		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	37731513	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27046199		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	31739742	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	27511199, 29127379		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	17468756		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29748375		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24847761, 25531322, 30987640, 31579414		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30987640		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30329043		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26257057, 29748375		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25531322		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	17468756		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	17468756		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	17468756		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25531322, 26735887, 27511199, 28695896, 29127379, 29748375, 31851527		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26132169	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	24430505		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	29055915		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30987640		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	37731513	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	26416247	Associate	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	35218958	Associate	★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	26733130		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

STARD3NL 3 shared diseasesBone disease, Bone fracture, Osteoporosis 3 shared evidence sourcesGWAS catalog (Bone disease), GWAS catalog (Bone fracture), GWAS catalog (Osteoporosis) Related via 3 shared diseases including Bone disease, Bone fracture — evidence mostly GWAS catalog. DDN 2 shared diseasesBone disease, Osteoporosis 2 shared evidence sourcesGWAS catalog (Bone disease), GWAS catalog (Osteoporosis) Related via 2 shared diseases including Bone disease, Osteoporosis — evidence mostly GWAS catalog. PPP6R3 2 shared diseasesBone disease, Osteoporosis 2 shared evidence sourcesGWAS catalog (Bone disease), GWAS catalog (Osteoporosis) Related via 2 shared diseases including Bone disease, Osteoporosis — evidence mostly GWAS catalog. SEM1 3 shared diseasesBone disease, Bone fracture, Osteoporosis 3 shared evidence sourcesGWAS catalog (Bone disease), GWAS catalog (Bone fracture), GWAS catalog (Osteoporosis) Related via 3 shared diseases including Bone disease, Bone fracture — evidence mostly GWAS catalog. ZBTB40 3 shared diseasesBone disease, Osteoporosis, Sclerosing cholangitis 4 shared evidence sourcesGWAS catalog (Astrocytoma), GWAS catalog (Bone disease), GWAS catalog (Osteoporosis), GWAS catalog (Sclerosing cholangitis) Related via 3 shared diseases including Bone disease, Osteoporosis — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
STARD3NL	3	["Bone disease","Bone fracture","Osteoporosis"]	0	[]	3	["GWAS catalog (Bone disease)","GWAS catalog (Bone fracture)","GWAS catalog (Osteoporosis)"]
DDN	2	["Bone disease","Osteoporosis"]	0	[]	2	["GWAS catalog (Bone disease)","GWAS catalog (Osteoporosis)"]
PPP6R3	2	["Bone disease","Osteoporosis"]	0	[]	2	["GWAS catalog (Bone disease)","GWAS catalog (Osteoporosis)"]
SEM1	3	["Bone disease","Bone fracture","Osteoporosis"]	0	[]	3	["GWAS catalog (Bone disease)","GWAS catalog (Bone fracture)","GWAS catalog (Osteoporosis)"]
ZBTB40	3	["Bone disease","Osteoporosis","Sclerosing cholangitis"]	0	[]	4	["GWAS catalog (Astrocytoma)","GWAS catalog (Bone disease)","GWAS catalog (Osteoporosis)","GWAS catalog (Sclerosing cholangitis)"]

Diseases Linked via Similar Genes

Dupuytren contracture Linked via 2 of 5 related genesSTARD3NL, ZBTB40 Frontotemporal dementia Linked via 2 of 5 related genesSTARD3NL, SEM1 Autism Linked via 1 of 5 related genesDDN Bipolar disorder Linked via 1 of 5 related genesDDN Schizophrenia Linked via 1 of 5 related genesDDN

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Dupuytren contracture	2	["STARD3NL","ZBTB40"]
Frontotemporal dementia	2	["STARD3NL","SEM1"]
Autism	1	["DDN"]
Bipolar disorder	1	["DDN"]
Schizophrenia	1	["DDN"]