NUP205 (nucleoporin 205)

Gene

• Entrez ID: 23165
• Gene name: Nucleoporin 205
• Gene symbol: NUP205
• Synonyms (NCBI Gene): C7orf14, NPHS13
• Chromosome: 7
• Chromosome location: 7q33
• Summary: This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs869312984	T>C	Pathogenic	Coding sequence variant, missense variant
rs1584675898	T>C	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050156	hsa-miR-26a-5p	CLASH	23622248
MIRT049025	hsa-miR-92a-3p	CLASH	23622248
MIRT048836	hsa-miR-93-5p	CLASH	23622248
MIRT047707	hsa-miR-10a-5p	CLASH	23622248
MIRT047707	hsa-miR-10a-5p	CLASH	23622248
MIRT046969	hsa-miR-221-3p	CLASH	23622248
MIRT046017	hsa-miR-125b-5p	CLASH	23622248
MIRT046017	hsa-miR-125b-5p	CLASH	23622248
MIRT039062	hsa-miR-769-3p	CLASH	23622248
MIRT039007	hsa-miR-766-3p	CLASH	23622248
MIRT724216	hsa-miR-8485	HITS-CLIP	19536157
MIRT724215	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT724214	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT724213	hsa-miR-603	HITS-CLIP	19536157
MIRT724212	hsa-miR-3680-5p	HITS-CLIP	19536157
MIRT724211	hsa-miR-3614-5p	HITS-CLIP	19536157
MIRT724210	hsa-miR-6500-3p	HITS-CLIP	19536157
MIRT724209	hsa-miR-3941	HITS-CLIP	19536157
MIRT724208	hsa-miR-5691	HITS-CLIP	19536157
MIRT724207	hsa-miR-6805-3p	HITS-CLIP	19536157
MIRT695650	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT695649	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT695648	hsa-miR-323a-3p	HITS-CLIP	23313552
MIRT695647	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT695646	hsa-miR-340-3p	HITS-CLIP	23313552
MIRT695645	hsa-miR-6827-3p	HITS-CLIP	23313552
MIRT695644	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT695643	hsa-miR-769-5p	HITS-CLIP	23313552
MIRT695642	hsa-miR-3926	HITS-CLIP	23313552
MIRT695641	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT695640	hsa-miR-3672	HITS-CLIP	23313552
MIRT695639	hsa-miR-6864-3p	HITS-CLIP	23313552
MIRT683068	hsa-miR-6889-3p	HITS-CLIP	23706177
MIRT683066	hsa-miR-4252	HITS-CLIP	23706177
MIRT683067	hsa-miR-4755-3p	HITS-CLIP	23706177
MIRT683065	hsa-miR-5699-5p	HITS-CLIP	23706177
MIRT683064	hsa-miR-874-5p	HITS-CLIP	23706177
MIRT683063	hsa-miR-1227-3p	HITS-CLIP	23706177
MIRT683062	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT683061	hsa-miR-5006-5p	HITS-CLIP	23706177
MIRT447374	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447373	hsa-miR-590-3p	PAR-CLIP	22100165
MIRT447372	hsa-miR-4496	PAR-CLIP	22100165
MIRT447371	hsa-miR-3148	PAR-CLIP	22100165
MIRT447370	hsa-miR-4775	PAR-CLIP	22100165
MIRT447369	hsa-miR-651-5p	PAR-CLIP	22100165
MIRT447368	hsa-miR-5009-5p	PAR-CLIP	22100165
MIRT724216	hsa-miR-8485	HITS-CLIP	19536157
MIRT724215	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT724214	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT724213	hsa-miR-603	HITS-CLIP	19536157
MIRT724212	hsa-miR-3680-5p	HITS-CLIP	19536157
MIRT724211	hsa-miR-3614-5p	HITS-CLIP	19536157
MIRT724210	hsa-miR-6500-3p	HITS-CLIP	19536157
MIRT724209	hsa-miR-3941	HITS-CLIP	19536157
MIRT724208	hsa-miR-5691	HITS-CLIP	19536157
MIRT724207	hsa-miR-6805-3p	HITS-CLIP	19536157
MIRT695650	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT695649	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT695648	hsa-miR-323a-3p	HITS-CLIP	23313552
MIRT695647	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT695646	hsa-miR-340-3p	HITS-CLIP	23313552
MIRT695645	hsa-miR-6827-3p	HITS-CLIP	23313552
MIRT695644	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT695643	hsa-miR-769-5p	HITS-CLIP	23313552
MIRT695642	hsa-miR-3926	HITS-CLIP	23313552
MIRT695641	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT695640	hsa-miR-3672	HITS-CLIP	23313552
MIRT695639	hsa-miR-6864-3p	HITS-CLIP	23313552
MIRT683068	hsa-miR-6889-3p	HITS-CLIP	23706177
MIRT683066	hsa-miR-4252	HITS-CLIP	23706177
MIRT683067	hsa-miR-4755-3p	HITS-CLIP	23706177
MIRT683065	hsa-miR-5699-5p	HITS-CLIP	23706177
MIRT683064	hsa-miR-874-5p	HITS-CLIP	23706177
MIRT683063	hsa-miR-1227-3p	HITS-CLIP	23706177
MIRT683062	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT683061	hsa-miR-5006-5p	HITS-CLIP	23706177
MIRT447374	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447373	hsa-miR-590-3p	PAR-CLIP	22100165
MIRT447372	hsa-miR-4496	PAR-CLIP	22100165
MIRT447371	hsa-miR-3148	PAR-CLIP	22100165
MIRT447370	hsa-miR-4775	PAR-CLIP	22100165
MIRT447369	hsa-miR-651-5p	PAR-CLIP	22100165
MIRT447368	hsa-miR-5009-5p	PAR-CLIP	22100165
MIRT1199140	hsa-miR-2964a-5p	CLIP-seq
MIRT1199141	hsa-miR-300	CLIP-seq
MIRT1199142	hsa-miR-3185	CLIP-seq
MIRT1199143	hsa-miR-381	CLIP-seq
MIRT1199144	hsa-miR-4271	CLIP-seq
MIRT1199145	hsa-miR-4666-3p	CLIP-seq
MIRT1199146	hsa-miR-4713-5p	CLIP-seq
MIRT1199147	hsa-miR-4725-3p	CLIP-seq
MIRT1199148	hsa-miR-4760-3p	CLIP-seq
MIRT1199149	hsa-miR-520d-5p	CLIP-seq
MIRT1199150	hsa-miR-524-5p	CLIP-seq
MIRT1199151	hsa-miR-548p	CLIP-seq
MIRT1199140	hsa-miR-2964a-5p	CLIP-seq
MIRT1199141	hsa-miR-300	CLIP-seq
MIRT1199143	hsa-miR-381	CLIP-seq
MIRT1199145	hsa-miR-4666-3p	CLIP-seq
MIRT1199148	hsa-miR-4760-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	9348540, 25210169, 26878725
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	24315095
GO:0005635	Component	Nuclear envelope	TAS
GO:0005643	Component	Nuclear pore	IDA	12802065, 15229283
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	9348540, 24315095
GO:0005829	Component	Cytosol	TAS
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0006913	Process	Nucleocytoplasmic transport	TAS	9348540
GO:0006999	Process	Nuclear pore organization	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0017056	Function	Structural constituent of nuclear pore	IBA
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:0044611	Component	Nuclear pore inner ring	IBA
GO:0051028	Process	MRNA transport	IEA
GO:0051292	Process	Nuclear pore complex assembly	IMP	15229283

Other IDs

• MIM: 614352
• HGNC: 18658
• e!Ensembl: ENSG00000155561

Protein

• UniProt ID: Q92621
• Protein name: Nuclear pore complex protein Nup205 (205 kDa nucleoporin) (Nucleoporin Nup205)
• Protein function: Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC (PubMed:15229283). In association with TMEM209, may be involved in nuclear t
• PDB: 5IJN, 5IJO, 7PER, 7R5J, 7R5K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11894	Nup192	14 → 1684	Nuclear pore complex scaffold, nucleoporins 186/192/205	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the testis. {ECO:0000269|PubMed:22719065}.
• Sequence:

  MATPLAVNSAASLWGPYKDIWHKVGNALWRRQPEAVHLLDKILKKHKPDFISLFKNPPKN
  VQQHEKVQKASTEGVAIQGQQGTRLLPEQLIKEAFILSDLFDIGELAAVELLLAGEHQQP
  HFPGLTRGLVAVLLYWDGKRCIANSLKALIQSRRGKTWTLELSPELASMTTRFTDELMEQ
  GLTYKVLTLVSQIDVNNEFEKLQRERGLGSEKHRKEVSDLIKECRQSLAESLFAWACQSP
  LGKEDTLLLIGHLERVTVEANGSLDAVNLALLMALLYCFDISFIEQSTEERDDMIHQLPL
  LTEKQYIATIHSRLQDSQLWKLPGLQATVRLAWALALRGISQLPDVTALAEFTEADEAMA
  ELAIADNVFLFLMESVVVSEYFYQEEFYIRRVHNLITDFLALMPMKVKQLRNRADEDARM
  IHMSMQMGNEPPISLRRDLEHLMLLIGELYKKNPFHLELALEYWCPTEPLQTPTIMGSYL
  GVAHQRPPQRQVVLSKFVRQMGDLLPPTIYIPYLKMLQGLANGPQCAHYCFSLLKVNGSS
  HVENIQGAGGSPVSWEHFFHSLMLYHEHLRKDLPSADSVQYRHLPSRGITQKEQDGLIAF
  LQLTSTIITWSENARLALCEHPQWTPVVVILGLLQCSIPPVLKAELLKTLAAFGKSPEIA
  ASLWQSLEYTQILQTVRIPSQRQAIGIEVELNEIESRCEEYPLTRAFCQLISTLVESSFP
  SNLGAGLRPPGFDPYLQFLRDSVFLRFRTRAYRRAAEKWEVAEVVLEVFYKLLRDYEPQL
  EDFVDQFVELQGEEIIAYKPPGFSLMYHLLNESPMLELALSLLEEGVKQLDTYAPFPGKK
  HLEKAVQHCLALLNLTLQKENLFMDLLRESQLALIVCPLEQLLQGINPRTKKADNVVNIA
  RYLYHGNTNPELAFESAKILCCISCNSNIQIKLVGDFTHDQSISQKLMAGFVECLDCEDA
  EEFVRLEEGSELEKKLVAIRHETRIHILNLLITSLECNPPNLALYLLGFELKKPVSTTNL
  QDPGVLGCPRTCLHAILNILEKGTEGRTGPVAVRESPQLAELCYQVIYQLCACSDTSGPT
  MRYLRTSQDFLFSQLQYLPFSNKEYEISMLNQMSWLMKTASIELRVTSLNRQRSHTQRLL
  HLLLDDMPVKPYSDGEGGIEDENRSVSGFLHFDTATKVRRKILNILDSIDFSQEIPEPLQ
  LDFFDRAQIEQVIANCEHKNLRGQTVCNVKLLHRVLVAEVNALQGMAAIGQRPLLMEEIS
  TVLQYVVGRNKLLQCLHAKRHALESWRQLVEIILTACPQDLIQAEDRQLIIRDILQDVHD
  KILDDEAAQELMPVVAGAVFTLTAHLSQAVLTEQKETSVLGPAEAHYAFMLDSCFTSPPP
  EENPLVGFASIGDSSLYIILKKLLDFILKTGGGFQRVRTHLYGSLLYYLQIAQRPDEPDT
  LEAAKKTMWERLTAPEDVFSKLQRENIAIIESYGAALMEVVCRDACDGHEIGRMLALALL
  DRIVSVDKQQQWLLYLSNSGYLKVLVDSLVEDDRTLQSLLTPQPPLLKALYTYESKMAFL
  TRVAKIQQGALELLRSGVIVRLAQCQVYDMRPETDPQSMFGMRDPPMFIPTPVDRYRQIL
  LPALQLCQVILTSSMAQHLQAAGQVLQFLISHSDTIQAILRCQDVSAGSLQELALLTGII
  SKAALPGILSELDVDVNEGSLMELQGHIGRFQRQCLGLLSRFGGSDRLRQFKFQDDNVEG
  DKVSKKDEIELAMQQICANVMEYCQSLMLQSSPTFQHAVCLFTPSLSETVNRDGPRQDTQ
  APVVPYWRLPGLGIIIYLLKQSANDFFSYYDSHRQSVSKLQNVEQLPPDEIKELCQSVMP
  AGVDKISTAQKYVLARRRLVKVINNRAKLLSLCSFIIETCLFILWRHLEYYLLHCMPTDS
  QDSLFASRTLFKSRRLQDSFASETNLDFRSGLAIVSQHDLDQLQADAINAFGESLQKKLL
  DIEGLYSKVRSRYSFIQALVRRIRGLLRISRN

• Sequence length: 2012

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
Nephrotic syndrome, type 13	Pathogenic; Likely pathogenic	rs869312984, rs1584675898	RCV000210736 RCV000995822	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ 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
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ 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; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, IDIOPATHIC, STEROID-RESISTANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NUP205-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely 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
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28029704		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	35355568	Associate	★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	36071494	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22719065		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	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
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	37565816	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31298340	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31298340		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22719065		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32964975	Associate	★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	26878725		★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	CTD_human_DG	26878725		★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, TYPE 13	Nephrotic Syndrome	GENOMICS_ENGLAND_DG	26878725		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROTIC SYNDROME, TYPE 13	Nephrotic Syndrome	UNIPROT_DG	26878725		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROTIC SYNDROME, TYPE 13	Nephrotic Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROTIC SYNDROME, TYPE 13	Nephrotic Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteitis Deformans	Paget disease	GWASCAT_DG	21623375		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	GWASDB_DG	21623375		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	CTD_human_DG	21623375		★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	GWASDB_DG	21623375		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	27115612		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	26878725, 30179222		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	33107391	Associate	★☆☆☆☆ Found in Text Mining only