NUP37 (nucleoporin 37)

Gene

• Entrez ID: 79023
• Gene name: Nucleoporin 37
• Gene symbol: NUP37
• Synonyms (NCBI Gene): MCPH24, p37
• Chromosome: 12
• Chromosome location: 12q23.2
• Summary: Nuclear pore complexes (NPCs) are used for transporting macromolecules between the cytoplasm and the nucleus. NPCs consist of multiple copies of 30 distinct proteins (nucleoporins), which assemble into biochemically-separable subcomplexes. The protein enc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs746341112	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1309880692	->A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047580	hsa-miR-10a-5p	CLASH	23622248
MIRT041410	hsa-miR-193b-3p	CLASH	23622248
MIRT549734	hsa-miR-548c-3p	HITS-CLIP	21572407
MIRT549733	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT549732	hsa-miR-8485	HITS-CLIP	21572407
MIRT549731	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT549730	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT549728	hsa-miR-603	HITS-CLIP	21572407
MIRT707105	hsa-miR-4773	HITS-CLIP	21572407
MIRT549729	hsa-miR-3925-5p	HITS-CLIP	21572407
MIRT549727	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT549726	hsa-miR-3919	HITS-CLIP	21572407
MIRT549725	hsa-miR-3941	HITS-CLIP	21572407
MIRT549724	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT549723	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT568717	hsa-miR-5582-3p	PAR-CLIP	20371350
MIRT535578	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT535577	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT535576	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT535575	hsa-miR-4324	PAR-CLIP	20371350
MIRT535574	hsa-miR-544b	PAR-CLIP	20371350
MIRT535572	hsa-miR-3928-3p	PAR-CLIP	20371350
MIRT535573	hsa-miR-1200	PAR-CLIP	20371350
MIRT535571	hsa-miR-3915	PAR-CLIP	20371350
MIRT568717	hsa-miR-5582-3p	PAR-CLIP	20371350
MIRT535578	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT535577	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT535576	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT535575	hsa-miR-4324	PAR-CLIP	20371350
MIRT535574	hsa-miR-544b	PAR-CLIP	20371350
MIRT535572	hsa-miR-3928-3p	PAR-CLIP	20371350
MIRT535573	hsa-miR-1200	PAR-CLIP	20371350
MIRT535571	hsa-miR-3915	PAR-CLIP	20371350
MIRT568717	hsa-miR-5582-3p	PAR-CLIP	20371350
MIRT535578	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT535577	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT535576	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT535575	hsa-miR-4324	PAR-CLIP	20371350
MIRT535574	hsa-miR-544b	PAR-CLIP	20371350
MIRT535572	hsa-miR-3928-3p	PAR-CLIP	20371350
MIRT535573	hsa-miR-1200	PAR-CLIP	20371350
MIRT535571	hsa-miR-3915	PAR-CLIP	20371350
MIRT549722	hsa-miR-345-3p	PAR-CLIP	20371350
MIRT549721	hsa-miR-4732-3p	PAR-CLIP	20371350
MIRT549720	hsa-miR-125a-5p	PAR-CLIP	20371350
MIRT549719	hsa-miR-125b-5p	PAR-CLIP	20371350
MIRT549718	hsa-miR-4319	PAR-CLIP	20371350
MIRT535575	hsa-miR-4324	PAR-CLIP	20371350
MIRT549716	hsa-miR-4251	PAR-CLIP	20371350
MIRT549715	hsa-miR-3657	PAR-CLIP	20371350
MIRT549714	hsa-miR-4669	PAR-CLIP	20371350
MIRT549713	hsa-miR-670-5p	PAR-CLIP	20371350
MIRT549711	hsa-miR-580-3p	PAR-CLIP	20371350
MIRT549734	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT549733	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT549732	hsa-miR-8485	PAR-CLIP	21572407
MIRT549731	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT549730	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT549728	hsa-miR-603	PAR-CLIP	21572407
MIRT549729	hsa-miR-3925-5p	PAR-CLIP	21572407
MIRT549727	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT549726	hsa-miR-3919	PAR-CLIP	21572407
MIRT549725	hsa-miR-3941	PAR-CLIP	21572407
MIRT549724	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT549723	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT549722	hsa-miR-345-3p	PAR-CLIP	21572407
MIRT549721	hsa-miR-4732-3p	PAR-CLIP	21572407
MIRT549720	hsa-miR-125a-5p	PAR-CLIP	21572407
MIRT549719	hsa-miR-125b-5p	PAR-CLIP	21572407
MIRT549718	hsa-miR-4319	PAR-CLIP	21572407
MIRT535575	hsa-miR-4324	PAR-CLIP	21572407
MIRT549717	hsa-miR-130b-5p	PAR-CLIP	21572407
MIRT549716	hsa-miR-4251	PAR-CLIP	21572407
MIRT549715	hsa-miR-3657	PAR-CLIP	21572407
MIRT549714	hsa-miR-4669	PAR-CLIP	21572407
MIRT549713	hsa-miR-670-5p	PAR-CLIP	21572407
MIRT549712	hsa-miR-4753-3p	PAR-CLIP	21572407
MIRT549711	hsa-miR-580-3p	PAR-CLIP	21572407
MIRT549710	hsa-miR-3161	PAR-CLIP	21572407
MIRT549709	hsa-miR-4768-5p	PAR-CLIP	21572407
MIRT549708	hsa-miR-6833-3p	PAR-CLIP	21572407
MIRT549707	hsa-miR-6809-3p	PAR-CLIP	21572407
MIRT549706	hsa-miR-6832-3p	PAR-CLIP	21572407
MIRT535578	hsa-miR-3606-3p	PAR-CLIP	22012620
MIRT535577	hsa-miR-513a-3p	PAR-CLIP	22012620
MIRT535576	hsa-miR-513c-3p	PAR-CLIP	22012620
MIRT535575	hsa-miR-4324	PAR-CLIP	22012620
MIRT535574	hsa-miR-544b	PAR-CLIP	22012620
MIRT535572	hsa-miR-3928-3p	PAR-CLIP	22012620
MIRT535573	hsa-miR-1200	PAR-CLIP	22012620
MIRT535571	hsa-miR-3915	PAR-CLIP	22012620
MIRT535573	hsa-miR-1200	PAR-CLIP	27292025
MIRT535573	hsa-miR-1200	PAR-CLIP	27292025
MIRT535573	hsa-miR-1200	PAR-CLIP	27292025
MIRT535573	hsa-miR-1200	PAR-CLIP	27292025
MIRT535578	hsa-miR-3606-3p	PAR-CLIP	27292025
MIRT535578	hsa-miR-3606-3p	PAR-CLIP	27292025
MIRT535578	hsa-miR-3606-3p	PAR-CLIP	27292025
MIRT535578	hsa-miR-3606-3p	PAR-CLIP	27292025
MIRT535571	hsa-miR-3915	PAR-CLIP	27292025
MIRT535571	hsa-miR-3915	PAR-CLIP	27292025
MIRT535571	hsa-miR-3915	PAR-CLIP	27292025
MIRT535571	hsa-miR-3915	PAR-CLIP	27292025
MIRT535572	hsa-miR-3928-3p	PAR-CLIP	27292025
MIRT535572	hsa-miR-3928-3p	PAR-CLIP	27292025
MIRT535572	hsa-miR-3928-3p	PAR-CLIP	27292025
MIRT535572	hsa-miR-3928-3p	PAR-CLIP	27292025
MIRT535575	hsa-miR-4324	PAR-CLIP	27292025
MIRT535575	hsa-miR-4324	PAR-CLIP	27292025
MIRT535575	hsa-miR-4324	PAR-CLIP	27292025
MIRT535575	hsa-miR-4324	PAR-CLIP	27292025
MIRT535577	hsa-miR-513a-3p	PAR-CLIP	27292025
MIRT535577	hsa-miR-513a-3p	PAR-CLIP	27292025
MIRT535577	hsa-miR-513a-3p	PAR-CLIP	27292025
MIRT535577	hsa-miR-513a-3p	PAR-CLIP	27292025
MIRT535576	hsa-miR-513c-3p	PAR-CLIP	27292025
MIRT535576	hsa-miR-513c-3p	PAR-CLIP	27292025
MIRT535576	hsa-miR-513c-3p	PAR-CLIP	27292025
MIRT535576	hsa-miR-513c-3p	PAR-CLIP	27292025
MIRT535574	hsa-miR-544b	PAR-CLIP	27292025
MIRT535574	hsa-miR-544b	PAR-CLIP	27292025
MIRT535574	hsa-miR-544b	PAR-CLIP	27292025
MIRT535574	hsa-miR-544b	PAR-CLIP	27292025
MIRT568717	hsa-miR-5582-3p	PAR-CLIP	27292025
MIRT568717	hsa-miR-5582-3p	PAR-CLIP	27292025
MIRT568717	hsa-miR-5582-3p	PAR-CLIP	27292025
MIRT568717	hsa-miR-5582-3p	PAR-CLIP	27292025
MIRT549734	hsa-miR-548c-3p	HITS-CLIP	21572407
MIRT549733	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT549732	hsa-miR-8485	HITS-CLIP	21572407
MIRT549731	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT549730	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT549728	hsa-miR-603	HITS-CLIP	21572407
MIRT707105	hsa-miR-4773	HITS-CLIP	21572407
MIRT549729	hsa-miR-3925-5p	HITS-CLIP	21572407
MIRT549727	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT549726	hsa-miR-3919	HITS-CLIP	21572407
MIRT549725	hsa-miR-3941	HITS-CLIP	21572407
MIRT549724	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT549723	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT568717	hsa-miR-5582-3p	PAR-CLIP	20371350
MIRT535578	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT535577	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT535576	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT535575	hsa-miR-4324	PAR-CLIP	20371350
MIRT535574	hsa-miR-544b	PAR-CLIP	20371350
MIRT535572	hsa-miR-3928-3p	PAR-CLIP	20371350
MIRT535573	hsa-miR-1200	PAR-CLIP	20371350
MIRT535571	hsa-miR-3915	PAR-CLIP	20371350
MIRT568717	hsa-miR-5582-3p	PAR-CLIP	20371350
MIRT535578	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT535577	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT535576	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT535575	hsa-miR-4324	PAR-CLIP	20371350
MIRT535574	hsa-miR-544b	PAR-CLIP	20371350
MIRT535572	hsa-miR-3928-3p	PAR-CLIP	20371350
MIRT535573	hsa-miR-1200	PAR-CLIP	20371350
MIRT535571	hsa-miR-3915	PAR-CLIP	20371350
MIRT568717	hsa-miR-5582-3p	PAR-CLIP	20371350
MIRT535578	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT535577	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT535576	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT535575	hsa-miR-4324	PAR-CLIP	20371350
MIRT535574	hsa-miR-544b	PAR-CLIP	20371350
MIRT535572	hsa-miR-3928-3p	PAR-CLIP	20371350
MIRT535573	hsa-miR-1200	PAR-CLIP	20371350
MIRT535571	hsa-miR-3915	PAR-CLIP	20371350
MIRT549722	hsa-miR-345-3p	PAR-CLIP	20371350
MIRT549721	hsa-miR-4732-3p	PAR-CLIP	20371350
MIRT549720	hsa-miR-125a-5p	PAR-CLIP	20371350
MIRT549719	hsa-miR-125b-5p	PAR-CLIP	20371350
MIRT549718	hsa-miR-4319	PAR-CLIP	20371350
MIRT535575	hsa-miR-4324	PAR-CLIP	20371350
MIRT549716	hsa-miR-4251	PAR-CLIP	20371350
MIRT549715	hsa-miR-3657	PAR-CLIP	20371350
MIRT549714	hsa-miR-4669	PAR-CLIP	20371350
MIRT549713	hsa-miR-670-5p	PAR-CLIP	20371350
MIRT549711	hsa-miR-580-3p	PAR-CLIP	20371350
MIRT549734	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT549733	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT549732	hsa-miR-8485	PAR-CLIP	21572407
MIRT549731	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT549730	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT549728	hsa-miR-603	PAR-CLIP	21572407
MIRT549729	hsa-miR-3925-5p	PAR-CLIP	21572407
MIRT549727	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT549726	hsa-miR-3919	PAR-CLIP	21572407
MIRT549725	hsa-miR-3941	PAR-CLIP	21572407
MIRT549724	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT549723	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT549722	hsa-miR-345-3p	PAR-CLIP	21572407
MIRT549721	hsa-miR-4732-3p	PAR-CLIP	21572407
MIRT549720	hsa-miR-125a-5p	PAR-CLIP	21572407
MIRT549719	hsa-miR-125b-5p	PAR-CLIP	21572407
MIRT549718	hsa-miR-4319	PAR-CLIP	21572407
MIRT535575	hsa-miR-4324	PAR-CLIP	21572407
MIRT549717	hsa-miR-130b-5p	PAR-CLIP	21572407
MIRT549716	hsa-miR-4251	PAR-CLIP	21572407
MIRT549715	hsa-miR-3657	PAR-CLIP	21572407
MIRT549714	hsa-miR-4669	PAR-CLIP	21572407
MIRT549713	hsa-miR-670-5p	PAR-CLIP	21572407
MIRT549712	hsa-miR-4753-3p	PAR-CLIP	21572407
MIRT549711	hsa-miR-580-3p	PAR-CLIP	21572407
MIRT549710	hsa-miR-3161	PAR-CLIP	21572407
MIRT549709	hsa-miR-4768-5p	PAR-CLIP	21572407
MIRT549708	hsa-miR-6833-3p	PAR-CLIP	21572407
MIRT549707	hsa-miR-6809-3p	PAR-CLIP	21572407
MIRT549706	hsa-miR-6832-3p	PAR-CLIP	21572407
MIRT535578	hsa-miR-3606-3p	PAR-CLIP	22012620
MIRT535577	hsa-miR-513a-3p	PAR-CLIP	22012620
MIRT535576	hsa-miR-513c-3p	PAR-CLIP	22012620
MIRT535575	hsa-miR-4324	PAR-CLIP	22012620
MIRT535574	hsa-miR-544b	PAR-CLIP	22012620
MIRT535572	hsa-miR-3928-3p	PAR-CLIP	22012620
MIRT535573	hsa-miR-1200	PAR-CLIP	22012620
MIRT535571	hsa-miR-3915	PAR-CLIP	22012620

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IDA	15146057
GO:0000776	Component	Kinetochore	IEA
GO:0005515	Function	Protein binding	IPI	15146057, 24981860, 27194810, 28514442, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	24315095
GO:0005635	Component	Nuclear envelope	TAS
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	24315095
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0007059	Process	Chromosome segregation	IEA
GO:0015031	Process	Protein transport	IEA
GO:0031080	Component	Nuclear pore outer ring	IBA
GO:0031080	Component	Nuclear pore outer ring	IDA	15146057, 17360435
GO:0031080	Component	Nuclear pore outer ring	IEA
GO:0031080	Component	Nuclear pore outer ring	NAS	17363900
GO:0051028	Process	MRNA transport	IEA
GO:0051301	Process	Cell division	IEA

Other IDs

• MIM: 609264
• HGNC: 29929
• e!Ensembl: ENSG00000075188

Protein

• UniProt ID: Q8NFH4
• Protein name: Nucleoporin Nup37 (p37) (Nup107-160 subcomplex subunit Nup37)
• Protein function: Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitot
• PDB: 5A9Q, 7PEQ, 7R5J, 7R5K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	114 → 153	WD domain, G-beta repeat	Repeat

• Sequence:

  MKQDASRNAAYTVDCEDYVHVVEFNPFENGDSGNLIAYGGNNYVVIGTCTFQEEEADVEG
  IQYKTLRTFHHGVRVDGIAWSPETRLDSLPPVIKFCTSAADMKIRLFTSDLQDKNEYKVL
  EGHTDFINGLVFDPKEGQEIASVSDDHTCRIWNLEGVQTAHFVLHSPGMSVCWHPEETFK
  LMVAEKNGTIRFYDLLAQQAILSLESEQVPLMSAHWCLKNTFKVGAVAGNDWLIWDITRS
  SYPQNKRPVHMDRACLFRWSTISENLFATTGYPGKMASQFQIHHLGHPQPILMGSVAVGS
  GLSWHRTLPLCVIGGDHKLLFWVTEV

• Sequence length: 326

Pathways

KEGG:

Nucleocytoplasmic transport
Amyotrophic lateral sclerosis

Reactome:

ISG15 antiviral mechanism
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
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
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
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)
RHO GTPases Activate Formins
tRNA processing in the nucleus
Mitotic Prometaphase
HCMV Early Events
HCMV Late Events
Postmitotic nuclear pore complex (NPC) reformation
EML4 and NUDC in mitotic spindle formation

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
Microcephaly 24, primary, autosomal recessive	Pathogenic; Likely pathogenic	rs770156086, rs746341112, rs1309880692	RCV002250162 RCV000721168 RCV000995823	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	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
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NUP37-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	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
Carcinogenesis	Carcinogenesis	Pubtator	14562370	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31881970, 35093119	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	34264013, 35093934	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28036384, 28976984, 29228669, 30980864		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21062494		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28036384		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	CLINVAR_DG	30179222		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mouth Neoplasms	Mouth neoplasm	Pubtator	36052378	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	GENOMICS_ENGLAND_DG	30179222		★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	30179222		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21663671	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31211828		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24007313	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21062494		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	14562370	Associate	★☆☆☆☆ Found in Text Mining only