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

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
Colon adenocarcinoma	Pathogenic	rs138909849	RCV005893866	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Likely pathogenic; Pathogenic	rs145473779	RCV005893864	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal segmental glomerulosclerosis	Likely pathogenic	rs1596861969	RCV001003822	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs145473779	RCV005893865	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome	Likely pathogenic; Pathogenic	rs201924382, rs145473779, rs757674160	RCV001849650 RCV001849346 RCV001849347	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome, type 12	Likely pathogenic; Pathogenic	rs145473779, rs757674160, rs869320695, rs138909849, rs2144456685, rs201617246, rs758865966, rs1351580598	RCV000210563 RCV000210657 RCV000210703 RCV000210572 RCV003328137 RCV003985213 RCV004566385 RCV000735740	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NUP93-related disorder	Likely pathogenic	rs1341511822	RCV003402737	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUCHENNE MUSCULAR DYSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, IDIOPATHIC, STEROID-RESISTANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	31959624	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34767927	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	30741391		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31774908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	31774908		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diffuse mesangial sclerosis (disorder)	Mesangial sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	21856934	Associate	★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of cervix	Cervical Tumor	BEFREE	31774908		★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	Megalencephalic Leukoencephalopathy With Subcortical Cysts	BEFREE	30001865		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	20031564	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31774908		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	37845138	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	31315584, 33578576	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	CTD_human_DG	26878725		★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	26878725		★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, TYPE 12	Nephrotic Syndrome	UNIPROT_DG	26878725		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHROTIC SYNDROME, TYPE 12	Nephrotic Syndrome	GENOMICS_ENGLAND_DG	26878725		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHROTIC SYNDROME, TYPE 12	Nephrotic Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHROTIC SYNDROME, TYPE 12	Nephrotic Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30826992		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30271587	Associate	★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	26878725, 29869118, 30179222, 31015583, 31315584		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31959624	Associate	★☆☆☆☆ Found in Text Mining only