NEK2 (NIMA related kinase 2)

Gene

• Entrez ID: 4751
• Gene name: NIMA related kinase 2
• Gene symbol: NEK2
• Synonyms (NCBI Gene): HsPK21, NEK2A, NLK1, PPP1R111, RP67
• Chromosome: 1
• Chromosome location: 1q32.3
• Summary: This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in lat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs398122961	CTCATACA>T	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022077	hsa-miR-128-3p	Microarray	17612493
MIRT048925	hsa-miR-92a-3p	CLASH	23622248
MIRT022077	hsa-miR-128-3p	HT29	24046120
MIRT733367	hsa-miR-329-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32190004
MIRT733367	hsa-miR-329-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32190004
MIRT736489	hsa-miR-3174	Microarray, qRT-PCR	33094914
MIRT1180102	hsa-miR-153	CLIP-seq
MIRT1180103	hsa-miR-186	CLIP-seq
MIRT1180104	hsa-miR-3074-3p	CLIP-seq
MIRT1180105	hsa-miR-3133	CLIP-seq
MIRT1180106	hsa-miR-448	CLIP-seq
MIRT1180107	hsa-miR-944	CLIP-seq
MIRT1180108	hsa-miR-1227	CLIP-seq
MIRT1180109	hsa-miR-378g	CLIP-seq
MIRT1180110	hsa-miR-4252	CLIP-seq
MIRT1180111	hsa-miR-4793-3p	CLIP-seq
MIRT1180112	hsa-miR-4797-5p	CLIP-seq
MIRT1180113	hsa-miR-508-5p	CLIP-seq
MIRT1180114	hsa-miR-548v	CLIP-seq
MIRT1180115	hsa-miR-661	CLIP-seq
MIRT1180116	hsa-miR-766	CLIP-seq
MIRT1180104	hsa-miR-3074-3p	CLIP-seq
MIRT1180117	hsa-miR-3120-3p	CLIP-seq
MIRT1180118	hsa-miR-4310	CLIP-seq
MIRT2052131	hsa-miR-451b	CLIP-seq
MIRT1180117	hsa-miR-3120-3p	CLIP-seq
MIRT2281441	hsa-miR-421	CLIP-seq
MIRT2281442	hsa-miR-4272	CLIP-seq
MIRT1180118	hsa-miR-4310	CLIP-seq
MIRT2455047	hsa-miR-34b	CLIP-seq
MIRT2455048	hsa-miR-3685	CLIP-seq
MIRT2455049	hsa-miR-377	CLIP-seq
MIRT2455050	hsa-miR-3923	CLIP-seq
MIRT2455051	hsa-miR-4326	CLIP-seq
MIRT2455052	hsa-miR-628-3p	CLIP-seq
MIRT2579790	hsa-miR-1827	CLIP-seq
MIRT2579791	hsa-miR-3613-3p	CLIP-seq
MIRT2579792	hsa-miR-3672	CLIP-seq
MIRT2579793	hsa-miR-3689a-3p	CLIP-seq
MIRT2579794	hsa-miR-3689c	CLIP-seq
MIRT2579795	hsa-miR-371-5p	CLIP-seq
MIRT2579796	hsa-miR-371b-5p	CLIP-seq
MIRT1180109	hsa-miR-378g	CLIP-seq
MIRT1180110	hsa-miR-4252	CLIP-seq
MIRT2579797	hsa-miR-4684-5p	CLIP-seq
MIRT2579798	hsa-miR-4728-5p	CLIP-seq
MIRT1180111	hsa-miR-4793-3p	CLIP-seq
MIRT1180112	hsa-miR-4797-5p	CLIP-seq
MIRT1180113	hsa-miR-508-5p	CLIP-seq
MIRT2579799	hsa-miR-548c-3p	CLIP-seq
MIRT1180114	hsa-miR-548v	CLIP-seq
MIRT1180115	hsa-miR-661	CLIP-seq
MIRT2579800	hsa-miR-759	CLIP-seq
MIRT1180116	hsa-miR-766	CLIP-seq
MIRT1180108	hsa-miR-1227	CLIP-seq
MIRT2579790	hsa-miR-1827	CLIP-seq
MIRT2686151	hsa-miR-1908	CLIP-seq
MIRT2686152	hsa-miR-3612	CLIP-seq
MIRT2579791	hsa-miR-3613-3p	CLIP-seq
MIRT2579792	hsa-miR-3672	CLIP-seq
MIRT2579793	hsa-miR-3689a-3p	CLIP-seq
MIRT2579794	hsa-miR-3689c	CLIP-seq
MIRT2579795	hsa-miR-371-5p	CLIP-seq
MIRT2579796	hsa-miR-371b-5p	CLIP-seq
MIRT1180109	hsa-miR-378g	CLIP-seq
MIRT1180110	hsa-miR-4252	CLIP-seq
MIRT2686153	hsa-miR-4327	CLIP-seq
MIRT2579797	hsa-miR-4684-5p	CLIP-seq
MIRT2579798	hsa-miR-4728-5p	CLIP-seq
MIRT1180111	hsa-miR-4793-3p	CLIP-seq
MIRT1180112	hsa-miR-4797-5p	CLIP-seq
MIRT1180113	hsa-miR-508-5p	CLIP-seq
MIRT2579799	hsa-miR-548c-3p	CLIP-seq
MIRT1180114	hsa-miR-548v	CLIP-seq
MIRT2686154	hsa-miR-650	CLIP-seq
MIRT1180115	hsa-miR-661	CLIP-seq
MIRT2686155	hsa-miR-663	CLIP-seq
MIRT2579800	hsa-miR-759	CLIP-seq
MIRT1180116	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000070	Process	Mitotic sister chromatid segregation	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0000278	Process	Mitotic cell cycle	TAS	9430639
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IDA	17621308
GO:0000776	Component	Kinetochore	IDA	14978040
GO:0000776	Component	Kinetochore	IEA
GO:0000793	Component	Condensed chromosome	IEA
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000922	Component	Spindle pole	IEA
GO:0001824	Process	Blastocyst development	IEA
GO:0004672	Function	Protein kinase activity	IDA	10880350, 18086858, 26220856
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	IMP	24554434
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	9430639, 16280549
GO:0005515	Function	Protein binding	IPI	9647649, 10880350, 14978040, 15161910, 16648845, 17621308, 18086858, 21382349, 21900206, 23288039, 24116158, 24554434, 26220856, 26290419, 30404835, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614, 26220856
GO:0005813	Component	Centrosome	IEA
GO:0005813	Component	Centrosome	TAS	9430639
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IDA
GO:0006468	Process	Protein phosphorylation	IDA	21076410
GO:0006468	Process	Protein phosphorylation	IMP	24554434
GO:0007059	Process	Chromosome segregation	IBA
GO:0007059	Process	Chromosome segregation	IDA	14978040
GO:0007059	Process	Chromosome segregation	IEA
GO:0007059	Process	Chromosome segregation	IEA
GO:0007088	Process	Regulation of mitotic nuclear division	TAS	9430639
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019903	Function	Protein phosphatase binding	IPI	10880350
GO:0030496	Component	Midbody	IEA
GO:0031981	Component	Nuclear lumen	IEA
GO:0032206	Process	Positive regulation of telomere maintenance	IMP	21531765
GO:0032991	Component	Protein-containing complex	IMP	10880350
GO:0036064	Component	Ciliary basal body	IDA
GO:0045171	Component	Intercellular bridge	IDA
GO:0046602	Process	Regulation of mitotic centrosome separation	IMP	26220856
GO:0046602	Process	Regulation of mitotic centrosome separation	TAS	16280549
GO:0046777	Process	Protein autophosphorylation	IDA	17626005
GO:0046777	Process	Protein autophosphorylation	IMP	10880350
GO:0046872	Function	Metal ion binding	IEA
GO:0051225	Process	Spindle assembly	IEA
GO:0051225	Process	Spindle assembly	TAS	16280549
GO:0051299	Process	Centrosome separation	IDA	18086858
GO:0051301	Process	Cell division	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051988	Process	Regulation of attachment of spindle microtubules to kinetochore	IMP	18297113
GO:0090307	Process	Mitotic spindle assembly	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1903126	Process	Negative regulation of centriole-centriole cohesion	IMP	24554434

Other IDs

• MIM: 604043
• HGNC: 7745
• e!Ensembl: ENSG00000117650

Protein

• UniProt ID: P51955
• Protein name: Serine/threonine-protein kinase Nek2 (EC 2.7.11.1) (HSPK 21) (Never in mitosis A-related kinase 2) (NimA-related protein kinase 2) (NimA-like protein kinase 1)
• Protein function: Protein kinase which is involved in the control of centrosome separation and bipolar spindle formation in mitotic cells and chromatin condensation in meiotic cells. Regulates centrosome separation (essential for the formation of bipolar spindles
• PDB: 2JAV, 2W5A, 2W5B, 2W5H, 2WQO, 2XK3, 2XK4, 2XK6, 2XK7, 2XK8, 2XKC, 2XKD, 2XKE, 2XKF, 2XNM, 2XNN, 2XNO, 2XNP, 4A4X, 4AFE, 5M51, 5M53, 5M55, 5M57, 6SGD, 6SGH, 6SGI, 6SGK, 6SK9, 6TM5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	8 → 271	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in peripheral blood T-cells and a wide variety of transformed cell types. Isoform 1 and isoform 4 are expressed in the testis. Up-regulated in various cancer cell lines, as well as primary breast t
• Sequence:

  MPSRAEDYEVLYTIGTGSYGRCQKIRRKSDGKILVWKELDYGSMTEAEKQMLVSEVNLLR
  ELKHPNIVRYYDRIIDRTNTTLYIVMEYCEGGDLASVITKGTKERQYLDEEFVLRVMTQL
  TLALKECHRRSDGGHTVLHRDLKPANVFLDGKQNVKLGDFGLARILNHDTSFAKTFVGTP
  YYMSPEQMNRMSYNEKSDIWSLGCLLYELCALMPPFTAFSQKELAGKIREGKFRRIPYRY
  SDELNEIITRMLNLKDYHRPSVEEILENPLIADLVADEQRRNLERRGRQLGEPEKSQDSS
  PVLSELKLKEIQLQERERALKAREERLEQKEQELCVRERLAEDKLARAENLLKNYSLLKE
  RKFLSLASNPELLNLPSSVIKKKVHFSGESKENIMRSENSESQLTSKSKCKDLKKRLHAA
  QLRAQALSDIEKNYQLKSRQILGMR

• Sequence length: 445

Pathways

Reactome:

APC-Cdc20 mediated degradation of Nek2A
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2

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
Retinal dystrophy	Likely pathogenic	rs1655077098, rs1050943261, rs763584429, rs2464395714, rs773878112	RCV003890429 RCV003890440 RCV003890444 RCV003890462 RCV003890473	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 67	Pathogenic	rs398122961	RCV000076909	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEK2-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	18297132, 19949890		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	19844990, 25485281		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	20034488, 24369428	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31171817		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15492258, 19038001, 22234886, 22824957, 23001753, 23340795, 23708664, 24091727, 24662830, 24797070		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23340795, 23497539, 23776583, 24091727, 24489661, 24797070, 26290419, 29330624, 32558224, 35139887, 37958803	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Digestive System	Gastric Cancer	BEFREE	30425509		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28759960, 29399700, 36738674	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22539975, 26337275, 28086821, 28101574, 28759960, 31822116, 33109182, 33157984, 33540684, 33946043, 35545405, 39596041	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29399700	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	35880695	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28514100, 28808310, 30655697		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24966957, 29483831	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24763884, 26061684	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34910592	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36499051	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23690307, 24337664, 31646554		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	22234886		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	17942892, 20345485, 22879911, 27316377		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	22879911	Stimulate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	24091727	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20345485, 24046120, 28514100, 30425509, 31519156		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26823916, 28514100, 31519156, 33190424, 34959120	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	29949142		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31034758		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	12594241, 19844990, 25485281		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	15492258		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	LHGDN	15492258		★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	24966957	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	31355251	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32443386	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35705994	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	40220284	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28737508		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28737508		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28109086, 28737508, 30575919		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30575919	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	32504181	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	28643089	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	22234886		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22539975, 26851035, 27349376, 27509921, 27925179, 28086821, 28101574, 28454295, 28759960, 28881785, 29399700, 30145571, 30425509, 30562736, 30655697, 31319849		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	27925179, 30145571		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28514100, 28808310	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	40222041	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	37072474	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24966957	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26823916	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	28321704		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15492258, 22234886, 22824957, 23001753, 23340795, 23708664, 24091727, 24662830, 24797070, 26512919		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	27925179		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28514100, 28808310, 30655697		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23690307, 24337664, 31646554		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22879911, 24966957, 27316377		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30417526, 31249448, 31815040		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16084011, 20034488, 20345485, 23001753, 23328480, 24046120, 24337664, 25705694, 27316377, 27509921, 27599492, 27833088, 28039836, 28101574, 28213356, 28321704, 28454295, 29270587, 30655697, 31092416		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29949142		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29949142	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	29949142	Associate	★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy	Pubtator	32054769	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	23328480, 26648534, 29863498, 30463534		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	25313354, 28086949, 35088582	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30295336		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30295336	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17942892, 19038001, 20345485, 23708664, 24763826, 24966957, 25485281, 26512919, 26851035, 27316377, 27833088, 27925179, 28101574, 28737508, 28881785, 30145571, 31092416, 31249448, 31319849, 31815040		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	23370767	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24763826, 28509438		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	28509438		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	22234886		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29330624	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23690307, 24337664, 31646554		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26992217, 31646554, 34072728	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22879911, 24966957, 27316377		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	24966957		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22879911	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32537471	Associate	★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	27875771		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	24966957		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	30425509		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30720160	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	24043777		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis Pigmentosa	ORPHANET_DG	24043777		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 67	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 67	Retinitis Pigmentosa	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 67	Retinitis Pigmentosa	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinoblastoma	Retinoblastoma	BEFREE	30463534		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	19023884		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	32504181, 37399175	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37667354	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31460782		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30417526, 31249448, 31815040		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31249448, 33537819	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36738674	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23340795, 23708664		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34930366	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23052694, 36115593	Associate	★☆☆☆☆ Found in Text Mining only