KNL1 (kinetochore scaffold 1)

Gene

• Entrez ID: 57082
• Gene name: Kinetochore scaffold 1
• Gene symbol: KNL1
• Synonyms (NCBI Gene): AF15Q14, CASC5, CT29, D40, MCPH4, PPP1R55, Spc7, hKNL-1, hSpc105
• Chromosome: 15
• Chromosome location: 15q15.1
• Summary: The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spind

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs145740834	A>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs187007187	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs191249840	C>A,G,T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, stop gained, coding sequence variant, synonymous variant
rs200656662	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs533933463	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs758157294	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs763915472	G>A	Pathogenic	Missense variant, coding sequence variant
rs797045430	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863225127	->T	Pathogenic	Frameshift variant, coding sequence variant
rs979186313	A>G	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1064795910	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796397	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555420891	TT>C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555420936	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555421269	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1595923494	ACAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595945118	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT633639	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT633638	hsa-miR-4786-3p	HITS-CLIP	23824327
MIRT633637	hsa-miR-7977	HITS-CLIP	23824327
MIRT633639	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT633638	hsa-miR-4786-3p	HITS-CLIP	23824327
MIRT633637	hsa-miR-7977	HITS-CLIP	23824327
MIRT633636	hsa-miR-7843-3p	HITS-CLIP	23824327
MIRT633635	hsa-miR-127-5p	HITS-CLIP	23824327
MIRT457422	hsa-miR-191-5p	PAR-CLIP	23592263
MIRT457421	hsa-miR-4524b-3p	PAR-CLIP	23592263
MIRT457420	hsa-miR-1179	PAR-CLIP	23592263
MIRT457419	hsa-miR-802	PAR-CLIP	23592263
MIRT072070	hsa-miR-633	PAR-CLIP	23592263
MIRT072071	hsa-miR-3674	PAR-CLIP	23592263
MIRT457422	hsa-miR-191-5p	PAR-CLIP	23592263
MIRT457421	hsa-miR-4524b-3p	PAR-CLIP	23592263
MIRT457420	hsa-miR-1179	PAR-CLIP	23592263
MIRT457419	hsa-miR-802	PAR-CLIP	23592263
MIRT072070	hsa-miR-633	PAR-CLIP	23592263
MIRT072071	hsa-miR-3674	PAR-CLIP	23592263

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000070	Process	Mitotic sister chromatid segregation	IMP	19893618
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IDA	15371340, 19893618
GO:0000776	Component	Kinetochore	IEA
GO:0000776	Component	Kinetochore	NAS	21633384, 23418356
GO:0000940	Component	Outer kinetochore	IDA	24530301
GO:0001669	Component	Acrosomal vesicle	IDA	15579588
GO:0001675	Process	Acrosome assembly	NAS	15579588
GO:0005515	Function	Protein binding	IPI	15231748, 15502821, 17981135, 19141287, 19389623, 20220147, 20231380, 20360068, 20819937, 22000412, 22331848, 22660415, 24530301, 26496610, 27881301, 28514442, 30100357, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10980622
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007059	Process	Chromosome segregation	IEA
GO:0008017	Function	Microtubule binding	IDA	30100357
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	IBA
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	IDA	17981135
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0031619	Process	Homologous chromosome orientation in meiotic metaphase I	ISS
GO:0034501	Process	Protein localization to kinetochore	IBA
GO:0034501	Process	Protein localization to kinetochore	IDA	22331848
GO:0034501	Process	Protein localization to kinetochore	IEA
GO:0051301	Process	Cell division	IEA
GO:0090266	Process	Regulation of mitotic cell cycle spindle assembly checkpoint	IMP	19893618
GO:0180019	Component	Knl1/Spc105 complex	IDA	27881301
GO:1905326	Process	Positive regulation of meiosis I spindle assembly checkpoint	ISS

Other IDs

• MIM: 609173
• HGNC: 24054
• e!Ensembl: ENSG00000137812

Protein

• UniProt ID: Q8NG31
• Protein name: Outer kinetochore KNL1 complex subunit KNL1 (ALL1-fused gene from chromosome 15q14 protein) (AF15q14) (Bub-linking kinetochore protein) (Blinkin) (Cancer susceptibility candidate gene 5 protein) (Cancer/testis antigen 29) (CT29) (Kinetochore scaffold 1) (
• Protein function: Acts as a component of the outer kinetochore KNL1 complex that serves as a docking point for spindle assembly checkpoint components and mediates microtubule-kinetochore interactions (PubMed:15502821, PubMed:17981135, PubMed:18045986, PubMed:1989
• PDB: 3SI5, 4A1G, 4NF9, 4NFA, 6CZO, 8PPR, 8Q5H
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF19221	MELT	164 → 187	MELT motif	Motif
  PF19221	MELT	293 → 317	MELT motif	Motif
  PF19221	MELT	452 → 470	MELT motif	Motif
  PF19221	MELT	498 → 520	MELT motif	Motif
  PF19221	MELT	586 → 608	MELT motif	Motif
  PF19221	MELT	774 → 798	MELT motif	Motif
  PF19221	MELT	883 → 908	MELT motif	Motif
  PF19221	MELT	926 → 950	MELT motif	Motif
  PF19221	MELT	964 → 988	MELT motif	Motif
  PF19221	MELT	1097 → 1122	MELT motif	Motif
  PF19221	MELT	1138 → 1162	MELT motif	Motif
  PF19221	MELT	1176 → 1200	MELT motif	Motif
  PF18210	Knl1_RWD_C	2239 → 2336	Knl1 RWD C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis, where it is localized in germ cells, in particular in spermatocytes and in the pre-acrosome of round spermatids. Detected in the acrosome of ejaculated spermatozoa. Detected in adult thymus, bone marrow, col
• Sequence:

  MDGVSSEANEENDNIERPVRRRHSSILKPPRSPLQDLRGGNERVQESNALRNKKNSRRVS
  FADTIKVFQTESHMKIVRKSEMEGCSAMVPSQLQLLPPGFKRFSCLSLPETETGENLLLI
  QNKKLEDNYCEITGMNTLLSAPIHTQMQQKEFSIIEHTRERKHANDQTVIFSDENQMDLT
  SSHTVMITKGLLDNPISEKSTKIDTTSFLANLKLHTEDSRMKKEVNFSVDQNTSSENKID
  FNDFIKRLKTGKCSAFPDVPDKENFEIPIYSKEPNSASSTHQMHVSLKEDENNSNITRLF
  REKDDGMNFTQCHTANIQTLIPTSSETNSRESKGNDITIYGNDFMDLTFNHTLQILPATG
  NFSEIENQTQNAMDVTTGYGTKASGNKTVFKSKQNTAFQDLSINSADKIHITRSHIMGAE
  THIVSQTCNQDARILAMTPESIYSNPSIQGCKTVFYSSCNDAMEMTKCLSNMREEKNLLK
  HDSNYAKMYCNPDAMSSLTEKTIYSGEENMDITKSHTVAIDNQIFKQDQSNVQIAAAPTP
  EKEMMLQNLMTTSEDGKMNVNCNSVPHVSKERIQQSLSNPLSISLTDRKTELLSGENMDL
  TESHTSNLGSQVPLAAYNLAPESTSESHSQSKSSSDECEEITKSRNEPFQRSDIIAKNSL
  TDTWNKDKDWVLKILPYLDKDSPQSADCNQEIATSHNIVYCGGVLDKQITNRNTVSWEQS
  LFSTTKPLFSSGQFSMKNHDTAISSHTVKSVLGQNSKLAEPLRKSLSNPTPDYCHDKMII
  CSEEEQNMDLTKSHTVVIGFGPSELQELGKTNLEHTTGQLTTMNRQIAVKVEKCGKSPIE
  KSGVLKSNCIMDVLEDESVQKPKFPKEKQNVKIWGRKSVGGPKIDKTIVFSEDDKNDMDI
  TKSYTIEINHRPLLEKRDCHLVPLAGTSETILYTCRQDDMEITRSHTTALECKTVSPDEI
  TTRPMDKTVVFVDNHVELEMTESHTVFIDYQEKERTDRPNFELSQRKSLGTPTVICTPTE
  ESVFFPGNGESDRLVANDSQLTPLEEWSNNRGPVEVADNMELSKSATCKNIKDVQSPGFL
  NEPLSSKSQRRKSLKLKNDKTIVFSENHKNDMDITQSCMVEIDNESALEDKEDFHLAGAS
  KTILYSCGQDDMEITRSHTTALECKTLLPNEIAIRPMDKTVLFTDNYSDLEVTDSHTVFI
  DCQATEKILEENPKFGIGKGKNLGVSFPKDNSCVQEIAEKQALAVGNKIVLHTEQKQQLF
  AATNRTTNEIIKFHSAAMDEKVIGKVVDQACTLEKAQVESCQLNNRDRRNVDFTSSHATA
  VCGSSDNYSCLPNVISCTDNLEGSAMLLCDKDEEKANYCPVQNDLAYANDFASEYYLESE
  GQPLSAPCPLLEKEEVIQTSTKGQLDCVITLHKDQDLIKDPRNLLANQTLVYSQDLGEMT
  KLNSKRVSFKLPKDQMKVYVDDIYVIPQPHFSTDQPPLPKKGQSSINKEEVILSKAGNKS
  LNIIENSSAPICENKPKILNSEEWFAAACKKELKENIQTTNYNTALDFHSNSDVTKQVIQ
  THVNAGEAPDPVITSNVPCFHSIKPNLNNLNGKTGEFLAFQTVHLPPLPEQLLELGNKAH
  NDMHIVQATEIHNINIISSNAKDSRDEENKKSHNGAETTSLPPKTVFKDKVRRCSLGIFL
  PRLPNKRNCSVTGIDDLEQIPADTTDINHLETQPVSSKDSGIGSVAGKLNLSPSQYINEE
  NLPVYPDEINSSDSINIETEEKALIETYQKEISPYENKMGKTCNSQKRTWVQEEEDIHKE
  KKIRKNEIKFSDTTQDREIFDHHTEEDIDKSANSVLIKNLSRTPSSCSSSLDSIKADGTS
  LDFSTYRSSQMESQFLRDTICEESLREKLQDGRITIREFFILLQVHILIQKPRQSNLPGN
  FTVNTPPTPEDLMLSQYVYRPKIQIYREDCEARRQKIEELKLSASNQDKLLVDINKNLWE
  KMRHCSDKELKAFGIYLNKIKSCFTKMTKVFTHQGKVALYGKLVQSAQNEREKLQIKIDE
  MDKILKKIDNCLTEMETETKNLEDEEKNNPVEEWDSEMRAAEKELEQLKTEEEELQRNLL
  ELEVQKEQTLAQIDFMQKQRNRTEELLDQLSLSEWDVVEWSDDQAVFTFVYDTIQLTITF
  EESVVGFPFLDKRYRKIVDVNFQSLLDEDQAPPSSLLVHKLIFQYVEEKESWKKTCTTQH
  QLPKMLEEFSLVVHHCRLLGEEIEYLKRWGPNYNLMNIDINNNELRLLFSSSAAFAKFEI
  TLFLSAYYPSVPLPSTIQNHVGNTSQDDIATILSKVPLENNYLKNVVKQIYQDLFQDCHF
  YH

• Sequence length: 2342

Pathways

KEGG:

Cell cycle

Reactome:

Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Deposition of new CENPA-containing nucleosomes at the centromere
Mitotic Prometaphase
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 4, primary, autosomal recessive	Likely pathogenic; Pathogenic	rs2141721054, rs2141719739, rs797045430, rs863225127, rs2543165272, rs1555420891, rs763915472, rs979186313, rs758157294	RCV002245293 RCV002251729 RCV000193385 RCV000201695 RCV003146844 RCV000501352 RCV000032912 RCV000585836 RCV000585821	★★★★★ 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
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KNL1-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 4	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Microcephaly, Recessive	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12618768		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	12618768		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12618768		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	37075754	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	22983954, 28901661		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly	Microcephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive primary microcephaly	Microcephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	31758680	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	12618768		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31315522		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31315522, 34373442	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33290408	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33423377	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28901661		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10980622		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	12087463		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12087463		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30390708		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12087463, 26348410		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12618768		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12618768		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	26626498, 30304678, 31197172		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30304678	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	GENOMICS_ENGLAND_DG	22983954, 26626498		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	UNIPROT_DG	22983954, 26626498		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31315522		★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	22983954		★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	BEFREE	26621532, 31696992		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	CTD_human_DG	29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG	29892016		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33290408	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	29510755		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	29510755	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30390708		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30390708	Associate	★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only