NUP93 (nucleoporin 93)

Gene

• Entrez ID: 9688
• Gene name: Nucleoporin 93
• Gene symbol: NUP93
• Synonyms (NCBI Gene): NIC96
• Chromosome: 16
• Chromosome location: 16q13
• Summary: The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138909849	G>A	Pathogenic	Splice donor variant
rs145473779	G>T	Pathogenic	Coding sequence variant, missense variant
rs757674160	A>G	Pathogenic	Missense variant, coding sequence variant
rs869320695	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1351580598	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1596861969	A>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001059	hsa-miR-218-5p	qRT-PCR, Western blot	17998940
MIRT046016	hsa-miR-125b-5p	CLASH	23622248
MIRT715949	hsa-miR-4438	HITS-CLIP	19536157
MIRT715948	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT715947	hsa-miR-4793-3p	HITS-CLIP	19536157
MIRT715946	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT715945	hsa-miR-4252	HITS-CLIP	19536157
MIRT715944	hsa-miR-193b-5p	HITS-CLIP	19536157
MIRT715943	hsa-miR-5095	HITS-CLIP	19536157
MIRT715942	hsa-miR-7151-3p	HITS-CLIP	19536157
MIRT715941	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT715940	hsa-miR-7703	HITS-CLIP	19536157
MIRT715939	hsa-miR-3170	HITS-CLIP	19536157
MIRT715938	hsa-miR-6855-5p	HITS-CLIP	19536157
MIRT625134	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625133	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT625131	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625129	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625128	hsa-miR-635	HITS-CLIP	23824327
MIRT625127	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT625126	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT625125	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT625124	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT625123	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT625122	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT625121	hsa-miR-4507	HITS-CLIP	23824327
MIRT625120	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT625134	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625133	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT625132	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625131	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625130	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625129	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625128	hsa-miR-635	HITS-CLIP	23824327
MIRT625127	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT625126	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT625125	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT625124	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT625123	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT625122	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT625121	hsa-miR-4507	HITS-CLIP	23824327
MIRT625120	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT525640	hsa-miR-624-3p	PAR-CLIP	20371350
MIRT525638	hsa-miR-4695-5p	PAR-CLIP	20371350
MIRT525637	hsa-miR-4779	PAR-CLIP	20371350
MIRT525636	hsa-miR-6782-5p	PAR-CLIP	20371350
MIRT525634	hsa-miR-3922-5p	PAR-CLIP	20371350
MIRT525635	hsa-miR-1914-3p	PAR-CLIP	20371350
MIRT525633	hsa-miR-5194	PAR-CLIP	20371350
MIRT525632	hsa-miR-6738-5p	PAR-CLIP	20371350
MIRT525631	hsa-miR-6747-5p	PAR-CLIP	20371350
MIRT525630	hsa-miR-4455	PAR-CLIP	20371350
MIRT525629	hsa-miR-3650	PAR-CLIP	20371350
MIRT525628	hsa-miR-3177-5p	PAR-CLIP	20371350
MIRT525627	hsa-miR-4266	PAR-CLIP	20371350
MIRT525626	hsa-let-7c-3p	PAR-CLIP	20371350
MIRT525640	hsa-miR-624-3p	PAR-CLIP	20371350
MIRT525639	hsa-miR-4274	PAR-CLIP	20371350
MIRT525638	hsa-miR-4695-5p	PAR-CLIP	20371350
MIRT525637	hsa-miR-4779	PAR-CLIP	20371350
MIRT525636	hsa-miR-6782-5p	PAR-CLIP	20371350
MIRT525634	hsa-miR-3922-5p	PAR-CLIP	20371350
MIRT525635	hsa-miR-1914-3p	PAR-CLIP	20371350
MIRT525633	hsa-miR-5194	PAR-CLIP	20371350
MIRT525632	hsa-miR-6738-5p	PAR-CLIP	20371350
MIRT525631	hsa-miR-6747-5p	PAR-CLIP	20371350
MIRT525630	hsa-miR-4455	PAR-CLIP	20371350
MIRT525629	hsa-miR-3650	PAR-CLIP	20371350
MIRT525628	hsa-miR-3177-5p	PAR-CLIP	20371350
MIRT525627	hsa-miR-4266	PAR-CLIP	20371350
MIRT525626	hsa-let-7c-3p	PAR-CLIP	20371350
MIRT525640	hsa-miR-624-3p	PAR-CLIP	22012620
MIRT525639	hsa-miR-4274	PAR-CLIP	22012620
MIRT525638	hsa-miR-4695-5p	PAR-CLIP	22012620
MIRT525637	hsa-miR-4779	PAR-CLIP	22012620
MIRT525636	hsa-miR-6782-5p	PAR-CLIP	22012620
MIRT525634	hsa-miR-3922-5p	PAR-CLIP	22012620
MIRT525635	hsa-miR-1914-3p	PAR-CLIP	22012620
MIRT525633	hsa-miR-5194	PAR-CLIP	22012620
MIRT525632	hsa-miR-6738-5p	PAR-CLIP	22012620
MIRT525631	hsa-miR-6747-5p	PAR-CLIP	22012620
MIRT525630	hsa-miR-4455	PAR-CLIP	22012620
MIRT525629	hsa-miR-3650	PAR-CLIP	22012620
MIRT525628	hsa-miR-3177-5p	PAR-CLIP	22012620
MIRT525627	hsa-miR-4266	PAR-CLIP	22012620
MIRT525626	hsa-let-7c-3p	PAR-CLIP	22012620
MIRT514660	hsa-miR-6872-3p	PAR-CLIP	23446348
MIRT514659	hsa-miR-4722-3p	PAR-CLIP	23446348
MIRT514658	hsa-miR-6727-3p	PAR-CLIP	23446348
MIRT514657	hsa-miR-29a-5p	PAR-CLIP	23446348
MIRT514656	hsa-miR-4763-5p	PAR-CLIP	23446348
MIRT514655	hsa-miR-4715-3p	PAR-CLIP	23446348
MIRT514654	hsa-miR-3149	PAR-CLIP	23446348
MIRT525634	hsa-miR-3922-5p	PAR-CLIP	27292025
MIRT525639	hsa-miR-4274	PAR-CLIP	27292025
MIRT525640	hsa-miR-624-3p	PAR-CLIP	27292025
MIRT715949	hsa-miR-4438	HITS-CLIP	19536157
MIRT715948	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT715947	hsa-miR-4793-3p	HITS-CLIP	19536157
MIRT715946	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT715945	hsa-miR-4252	HITS-CLIP	19536157
MIRT715944	hsa-miR-193b-5p	HITS-CLIP	19536157
MIRT715943	hsa-miR-5095	HITS-CLIP	19536157
MIRT715942	hsa-miR-7151-3p	HITS-CLIP	19536157
MIRT715941	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT715940	hsa-miR-7703	HITS-CLIP	19536157
MIRT715939	hsa-miR-3170	HITS-CLIP	19536157
MIRT715938	hsa-miR-6855-5p	HITS-CLIP	19536157
MIRT625134	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625133	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT625131	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625129	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625128	hsa-miR-635	HITS-CLIP	23824327
MIRT625127	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT625126	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT625125	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT625124	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT625123	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT625122	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT625121	hsa-miR-4507	HITS-CLIP	23824327
MIRT625120	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT625134	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625133	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT625132	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625131	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625130	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625129	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625128	hsa-miR-635	HITS-CLIP	23824327
MIRT625127	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT625126	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT625125	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT625124	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT625123	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT625122	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT625121	hsa-miR-4507	HITS-CLIP	23824327
MIRT625120	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT525640	hsa-miR-624-3p	PAR-CLIP	20371350
MIRT525638	hsa-miR-4695-5p	PAR-CLIP	20371350
MIRT525637	hsa-miR-4779	PAR-CLIP	20371350
MIRT525636	hsa-miR-6782-5p	PAR-CLIP	20371350
MIRT525634	hsa-miR-3922-5p	PAR-CLIP	20371350
MIRT525635	hsa-miR-1914-3p	PAR-CLIP	20371350
MIRT525633	hsa-miR-5194	PAR-CLIP	20371350
MIRT525632	hsa-miR-6738-5p	PAR-CLIP	20371350
MIRT525631	hsa-miR-6747-5p	PAR-CLIP	20371350
MIRT525630	hsa-miR-4455	PAR-CLIP	20371350
MIRT525629	hsa-miR-3650	PAR-CLIP	20371350
MIRT525628	hsa-miR-3177-5p	PAR-CLIP	20371350
MIRT525627	hsa-miR-4266	PAR-CLIP	20371350
MIRT525626	hsa-let-7c-3p	PAR-CLIP	20371350
MIRT525640	hsa-miR-624-3p	PAR-CLIP	20371350
MIRT525639	hsa-miR-4274	PAR-CLIP	20371350
MIRT525638	hsa-miR-4695-5p	PAR-CLIP	20371350
MIRT525637	hsa-miR-4779	PAR-CLIP	20371350
MIRT525636	hsa-miR-6782-5p	PAR-CLIP	20371350
MIRT525634	hsa-miR-3922-5p	PAR-CLIP	20371350
MIRT525635	hsa-miR-1914-3p	PAR-CLIP	20371350
MIRT525633	hsa-miR-5194	PAR-CLIP	20371350
MIRT525632	hsa-miR-6738-5p	PAR-CLIP	20371350
MIRT525631	hsa-miR-6747-5p	PAR-CLIP	20371350
MIRT525630	hsa-miR-4455	PAR-CLIP	20371350
MIRT525629	hsa-miR-3650	PAR-CLIP	20371350
MIRT525628	hsa-miR-3177-5p	PAR-CLIP	20371350
MIRT525627	hsa-miR-4266	PAR-CLIP	20371350
MIRT525626	hsa-let-7c-3p	PAR-CLIP	20371350
MIRT525640	hsa-miR-624-3p	PAR-CLIP	22012620
MIRT525639	hsa-miR-4274	PAR-CLIP	22012620
MIRT525638	hsa-miR-4695-5p	PAR-CLIP	22012620
MIRT525637	hsa-miR-4779	PAR-CLIP	22012620
MIRT525636	hsa-miR-6782-5p	PAR-CLIP	22012620
MIRT525634	hsa-miR-3922-5p	PAR-CLIP	22012620
MIRT525635	hsa-miR-1914-3p	PAR-CLIP	22012620
MIRT525633	hsa-miR-5194	PAR-CLIP	22012620
MIRT525632	hsa-miR-6738-5p	PAR-CLIP	22012620
MIRT525631	hsa-miR-6747-5p	PAR-CLIP	22012620
MIRT525630	hsa-miR-4455	PAR-CLIP	22012620
MIRT525629	hsa-miR-3650	PAR-CLIP	22012620
MIRT525628	hsa-miR-3177-5p	PAR-CLIP	22012620
MIRT525627	hsa-miR-4266	PAR-CLIP	22012620
MIRT525626	hsa-let-7c-3p	PAR-CLIP	22012620
MIRT514660	hsa-miR-6872-3p	PAR-CLIP	23446348
MIRT514659	hsa-miR-4722-3p	PAR-CLIP	23446348
MIRT514658	hsa-miR-6727-3p	PAR-CLIP	23446348
MIRT514657	hsa-miR-29a-5p	PAR-CLIP	23446348
MIRT514656	hsa-miR-4763-5p	PAR-CLIP	23446348
MIRT514655	hsa-miR-4715-3p	PAR-CLIP	23446348
MIRT514654	hsa-miR-3149	PAR-CLIP	23446348
MIRT1199881	hsa-miR-183	CLIP-seq
MIRT1199882	hsa-miR-188-3p	CLIP-seq
MIRT1199883	hsa-miR-1912	CLIP-seq
MIRT1199884	hsa-miR-330-3p	CLIP-seq
MIRT1199885	hsa-miR-4302	CLIP-seq
MIRT1199886	hsa-miR-4422	CLIP-seq
MIRT1199887	hsa-miR-4645-3p	CLIP-seq
MIRT1199888	hsa-miR-532-3p	CLIP-seq
MIRT1199889	hsa-miR-551a	CLIP-seq
MIRT1199890	hsa-miR-551b	CLIP-seq
MIRT1199891	hsa-miR-648	CLIP-seq
MIRT1199892	hsa-miR-296-5p	CLIP-seq
MIRT1199893	hsa-miR-455-5p	CLIP-seq
MIRT1199894	hsa-miR-4641	CLIP-seq
MIRT1199895	hsa-miR-4727-3p	CLIP-seq
MIRT1199896	hsa-miR-548aa	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	26878725, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	24315095, 26878725
GO:0005635	Component	Nuclear envelope	IEA
GO:0005635	Component	Nuclear envelope	TAS
GO:0005643	Component	Nuclear pore	IBA
GO:0005643	Component	Nuclear pore	IDA	12802065, 15229283
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	24315095
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006606	Process	Protein import into nucleus	IBA
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0006998	Process	Nuclear envelope organization	IDA	26878725
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016973	Process	Poly(A)+ mRNA export from nucleus	IBA
GO:0017056	Function	Structural constituent of nuclear pore	IBA
GO:0017056	Function	Structural constituent of nuclear pore	IEA
GO:0017056	Function	Structural constituent of nuclear pore	IMP	15229283
GO:0031965	Component	Nuclear membrane	IDA	15229283
GO:0031965	Component	Nuclear membrane	IEA
GO:0034399	Component	Nuclear periphery	IDA	15229283
GO:0051028	Process	MRNA transport	IEA
GO:0051292	Process	Nuclear pore complex assembly	IDA	26878725
GO:0051292	Process	Nuclear pore complex assembly	IMP	15229283
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	26878725
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA

Other IDs

• MIM: 614351
• HGNC: 28958
• e!Ensembl: ENSG00000102900

Protein

• UniProt ID: Q8N1F7
• Protein name: Nuclear pore complex protein Nup93 (93 kDa nucleoporin) (Nucleoporin Nup93)
• Protein function: Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor nucleoporins, but not NUP153 and TPR, to the NPC. During renal development, regulates podocyte migration and proliferation through SMAD4 sign
• PDB: 5IJN, 5IJO, 7MW0, 7MW1, 7PER, 7R5J, 7R5K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04097	Nic96	214 → 804	Nup93/Nic96	Family

• Sequence:

  MDTEGFGELLQQAEQLAAETEGISELPHVERNLQEIQQAGERLRSRTLTRTSQETADVKA
  SVLLGSRGLDISHISQRLESLSAATTFEPLEPVKDTDIQGFLKNEKDNALLSAIEESRKR
  TFGMAEEYHRESMLVEWEQVKQRILHTLLASGEDALDFTQESEPSYISDVGPPGRSSLDN
  IEMAYARQIYIYNEKIVNGHLQPNLVDLCASVAELDDKSISDMWTMVKQMTDVLLTPATD
  ALKNRSSVEVRMEFVRQALAYLEQSYKNYTLVTVFGNLHQAQLGGVPGTYQLVRSFLNIK
  LPAPLPGLQDGEVEGHPVWALIYYCMRCGDLLAASQVVNRAQHQLGEFKTWFQEYMNSKD
  RRLSPATENKLRLHYRRALRNNTDPYKRAVYCIIGRCDVTDNQSEVADKTEDYLWLKLNQ
  VCFDDDGTSSPQDRLTLSQFQKQLLEDYGESHFTVNQQPFLYFQVLFLTAQFEAAVAFLF
  RMERLRCHAVHVALVLFELKLLLKSSGQSAQLLSHEPGDPPCLRRLNFVRLLMLYTRKFE
  STDPREALQYFYFLRDEKDSQGENMFLRCVSELVIESREFDMILGKLENDGSRKPGVIDK
  FTSDTKPIINKVASVAENKGLFEEAAKLYDLAKNADKVLELMNKLLSPVVPQISAPQSNK
  ERLKNMALSIAERYRAQGISANKFVDSTFYLLLDLITFFDEYHSGHIDRAFDIIERLKLV
  PLNQESVEERVAAFRNFSDEIRHNLSEVLLATMNILFTQFKRLKGTSPSSSSRPQRVIED
  RDSQLRSQARTLITFAGMIPYRTSGDTNARLVQMEVLMN

• Sequence length: 819

Pathways

KEGG:

Nucleocytoplasmic transport
Amyotrophic lateral sclerosis

Reactome:

ISG15 antiviral mechanism
Transport of the SLBP independent Mature mRNA
Transport of the SLBP Dependant Mature mRNA
Transport of Mature mRNA Derived from an Intronless Transcript
Transport of Mature mRNA derived from an Intron-Containing Transcript
Rev-mediated nuclear export of HIV RNA
Transport of Ribonucleoproteins into the Host Nucleus
NS1 Mediated Effects on Host Pathways
Viral Messenger RNA Synthesis
NEP/NS2 Interacts with the Cellular Export Machinery
Regulation of Glucokinase by Glucokinase Regulatory Protein
Vpr-mediated nuclear import of PICs
snRNP Assembly
SUMOylation of DNA damage response and repair proteins
SUMOylation of ubiquitinylation proteins
Nuclear Pore Complex (NPC) Disassembly
Regulation of HSF1-mediated heat shock response
SUMOylation of SUMOylation proteins
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
SUMOylation of DNA replication proteins
Transcriptional regulation by small RNAs
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
tRNA processing in the nucleus
HCMV Early Events
HCMV Late Events
Postmitotic nuclear pore complex (NPC) reformation

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Colon adenocarcinoma	Pathogenic	rs138909849	RCV005893866
Colorectal cancer	Likely pathogenic; Pathogenic	rs145473779	RCV005893864
Focal segmental glomerulosclerosis	Likely pathogenic	rs1596861969	RCV001003822
Melanoma	Likely pathogenic; Pathogenic	rs145473779	RCV005893865
Nephrotic syndrome	Likely pathogenic; Pathogenic	rs201924382, rs145473779, rs757674160	RCV001849650 RCV001849346 RCV001849347
Nephrotic syndrome, type 12	Likely pathogenic; Pathogenic	rs145473779, rs757674160, rs869320695, rs138909849, rs2144456685, rs201617246, rs758865966, rs1351580598	RCV000210563 RCV000210657 RCV000210703 RCV000210572 RCV003328137 RCV003985213 RCV004566385 RCV000735740
NUP93-related disorder	Likely pathogenic	rs1341511822	RCV003402737

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs145146218	RCV005893867
Cervical cancer	Conflicting classifications of pathogenicity	rs145146218	RCV005893868
Cholangiocarcinoma	Benign	rs2241770	RCV005925337
Familial cancer of breast	Likely benign; Benign	rs149554495, rs138944474, rs763056754	RCV005918656 RCV005926101 RCV005936594
Gastric cancer	Benign; Conflicting classifications of pathogenicity	rs138944474, rs145146218	RCV005926104 RCV005893870
Lymphoma	Benign	rs2241770	RCV005925334
Malignant lymphoma, large B-cell, diffuse	Benign	rs2241770, rs138944474	RCV005925333 RCV005926103
Malignant tumor of esophagus	Benign	rs138944474	RCV005926102
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	rs149554495, rs145146218	RCV005918657 RCV005893871
Sarcoma	Conflicting classifications of pathogenicity	rs145146218	RCV005893869
Thymoma	Likely benign; Benign	rs149554495, rs2241770	RCV005918658 RCV005925336
Uterine carcinosarcoma	Benign; Conflicting classifications of pathogenicity	rs1561139, rs2241770, rs145146218	RCV005923617 RCV005925335 RCV005893872
Uveal melanoma	Benign	rs2241770	RCV005925332

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	31959624
Carcinoma Hepatocellular	Associate	34767927
Down Syndrome	Associate	21856934
Genetic Diseases Inborn	Associate	33578576
Ichthyosis X Linked	Associate	31315584
Infections	Associate	33578576
Myocardial Infarction	Associate	20031564
Neoplasm Metastasis	Stimulate	34767927
Neoplasms	Associate	26496030, 31959624, 35485764
Nephrosis congenital	Associate	37845138
Nephrotic Syndrome	Associate	31315584, 33578576
Prostatic Neoplasms	Associate	30271587
Triple Negative Breast Neoplasms	Associate	31959624
Varicocele	Associate	34975746