CDK5RAP2 (CDK5 regulatory subunit associated protein 2)

Gene

• Entrez ID: 55755
• Gene name: CDK5 regulatory subunit associated protein 2
• Gene symbol: CDK5RAP2
• Synonyms (NCBI Gene): C48, Cep215, MCPH3
• Chromosome: 9
• Chromosome location: 9q33.2
• Summary: This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubu

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61756286	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, not-provided	Non coding transcript variant, upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs61758368	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs143341041	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs145272328	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs199422126	A>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs373278668	G>A	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs374351172	C>A	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs387906274	T>C	Pathogenic	Intron variant, genic downstream transcript variant
rs398122971	C>A	Pathogenic	Stop gained, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant
rs587783387	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs587783390	G>A	Pathogenic-likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs587783392	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs587783393	TGCCT>-	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs747831095	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs752092703	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs754282058	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs772072816	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, downstream transcript variant, genic downstream transcript variant, missense variant
rs786205660	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs797045441	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs869025200	C>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1554728351	->AC	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554730137	GA>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554755313	T>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1564338190	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1588472215	T>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, non coding transcript variant
rs1588634016	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045392	hsa-miR-149-5p	CLASH	23622248
MIRT042896	hsa-miR-324-3p	CLASH	23622248
MIRT035984	hsa-miR-1301-3p	CLASH	23622248
MIRT881315	hsa-miR-1911	CLIP-seq
MIRT881316	hsa-miR-3064-5p	CLIP-seq
MIRT881317	hsa-miR-3919	CLIP-seq
MIRT881318	hsa-miR-3942-3p	CLIP-seq
MIRT881319	hsa-miR-4271	CLIP-seq
MIRT881320	hsa-miR-4318	CLIP-seq
MIRT881321	hsa-miR-4685-5p	CLIP-seq
MIRT881322	hsa-miR-4725-3p	CLIP-seq
MIRT881323	hsa-miR-4729	CLIP-seq
MIRT881324	hsa-miR-4756-3p	CLIP-seq
MIRT881325	hsa-miR-4786-3p	CLIP-seq
MIRT881326	hsa-miR-513c	CLIP-seq
MIRT881327	hsa-miR-514b-5p	CLIP-seq
MIRT881328	hsa-miR-548g	CLIP-seq
MIRT881329	hsa-miR-549	CLIP-seq
MIRT881330	hsa-miR-570	CLIP-seq
MIRT881331	hsa-miR-580	CLIP-seq
MIRT881332	hsa-miR-7	CLIP-seq
MIRT881333	hsa-miR-892b	CLIP-seq
MIRT1961029	hsa-miR-1324	CLIP-seq
MIRT1961030	hsa-miR-4659a-3p	CLIP-seq
MIRT1961031	hsa-miR-4659b-3p	CLIP-seq
MIRT881315	hsa-miR-1911	CLIP-seq
MIRT2197788	hsa-miR-1913	CLIP-seq
MIRT881316	hsa-miR-3064-5p	CLIP-seq
MIRT881319	hsa-miR-4271	CLIP-seq
MIRT881321	hsa-miR-4685-5p	CLIP-seq
MIRT881322	hsa-miR-4725-3p	CLIP-seq
MIRT2197789	hsa-miR-4749-3p	CLIP-seq
MIRT2197790	hsa-miR-4763-5p	CLIP-seq
MIRT2197791	hsa-miR-4766-5p	CLIP-seq
MIRT881325	hsa-miR-4786-3p	CLIP-seq
MIRT2197792	hsa-miR-524-3p	CLIP-seq
MIRT2197793	hsa-miR-525-3p	CLIP-seq
MIRT881332	hsa-miR-7	CLIP-seq
MIRT881333	hsa-miR-892b	CLIP-seq
MIRT2446717	hsa-miR-3121-3p	CLIP-seq
MIRT2446718	hsa-miR-3148	CLIP-seq
MIRT2446719	hsa-miR-3179	CLIP-seq
MIRT2446720	hsa-miR-4668-5p	CLIP-seq
MIRT2446717	hsa-miR-3121-3p	CLIP-seq
MIRT2446718	hsa-miR-3148	CLIP-seq
MIRT2446719	hsa-miR-3179	CLIP-seq
MIRT2446720	hsa-miR-4668-5p	CLIP-seq
MIRT1961029	hsa-miR-1324	CLIP-seq
MIRT2446717	hsa-miR-3121-3p	CLIP-seq
MIRT2501070	hsa-miR-3121-5p	CLIP-seq
MIRT2446718	hsa-miR-3148	CLIP-seq
MIRT2446719	hsa-miR-3179	CLIP-seq
MIRT2501071	hsa-miR-3187-3p	CLIP-seq
MIRT2501072	hsa-miR-3914	CLIP-seq
MIRT881317	hsa-miR-3919	CLIP-seq
MIRT881318	hsa-miR-3942-3p	CLIP-seq
MIRT2501073	hsa-miR-4435	CLIP-seq
MIRT1961030	hsa-miR-4659a-3p	CLIP-seq
MIRT1961031	hsa-miR-4659b-3p	CLIP-seq
MIRT2446720	hsa-miR-4668-5p	CLIP-seq
MIRT2501074	hsa-miR-4701-5p	CLIP-seq
MIRT881324	hsa-miR-4756-3p	CLIP-seq
MIRT881326	hsa-miR-513c	CLIP-seq
MIRT881327	hsa-miR-514b-5p	CLIP-seq
MIRT2501075	hsa-miR-548s	CLIP-seq
MIRT881329	hsa-miR-549	CLIP-seq
MIRT881330	hsa-miR-570	CLIP-seq
MIRT2501076	hsa-miR-588	CLIP-seq
MIRT2446717	hsa-miR-3121-3p	CLIP-seq
MIRT2446718	hsa-miR-3148	CLIP-seq
MIRT2446719	hsa-miR-3179	CLIP-seq
MIRT881317	hsa-miR-3919	CLIP-seq
MIRT881318	hsa-miR-3942-3p	CLIP-seq
MIRT2446720	hsa-miR-4668-5p	CLIP-seq
MIRT881324	hsa-miR-4756-3p	CLIP-seq
MIRT881326	hsa-miR-513c	CLIP-seq
MIRT881327	hsa-miR-514b-5p	CLIP-seq
MIRT881329	hsa-miR-549	CLIP-seq
MIRT881330	hsa-miR-570	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	IBA
GO:0000132	Process	Establishment of mitotic spindle orientation	IEA
GO:0000132	Process	Establishment of mitotic spindle orientation	ISS
GO:0000226	Process	Microtubule cytoskeleton organization	IDA	17959831
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000242	Component	Pericentriolar material	IBA
GO:0000242	Component	Pericentriolar material	IDA	17959831
GO:0000922	Component	Spindle pole	IDA	17959831, 19282672
GO:0000931	Component	Gamma-tubulin ring complex	IDA	29162697
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	19282672
GO:0001578	Process	Microtubule bundle formation	IBA
GO:0001578	Process	Microtubule bundle formation	IDA	19553473
GO:0005515	Function	Protein binding	IPI	17959831, 19282672, 19553473, 20466722, 25503564, 26192437, 26297806, 26485573, 29162697, 35709258, 35849559
GO:0005516	Function	Calmodulin binding	IDA	20466722
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IDA	17959831, 19282672, 19553473
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	20466722
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA	14654843, 17959831, 18042621, 19282672, 19543530, 19553473, 20466722, 21399614, 25657325, 26485573, 29162697, 31974111, 35849559
GO:0005813	Component	Centrosome	IEA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	NAS	10721722
GO:0005874	Component	Microtubule	IDA	19553473
GO:0005874	Component	Microtubule	IEA
GO:0007059	Process	Chromosome segregation	IBA
GO:0007059	Process	Chromosome segregation	IMP	19282672
GO:0007098	Process	Centrosome cycle	IMP	18042621
GO:0007099	Process	Centriole replication	IBA
GO:0007099	Process	Centriole replication	IMP	26297806
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS
GO:0007420	Process	Brain development	NAS	10915792
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IDA	14654843
GO:0015631	Function	Tubulin binding	IPI	17959831
GO:0019901	Function	Protein kinase binding	IPI	10721722
GO:0022008	Process	Neurogenesis	IEA
GO:0022008	Process	Neurogenesis	ISS
GO:0030054	Component	Cell junction	IDA
GO:0031023	Process	Microtubule organizing center organization	IMP	26485573
GO:0031116	Process	Positive regulation of microtubule polymerization	IMP	29162697
GO:0035371	Component	Microtubule plus-end	IBA
GO:0035371	Component	Microtubule plus-end	IDA	26485573
GO:0036064	Component	Ciliary basal body	IDA
GO:0043015	Function	Gamma-tubulin binding	IBA
GO:0043015	Function	Gamma-tubulin binding	IDA	29162697
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045664	Process	Regulation of neuron differentiation	NAS	10721722
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	19282672
GO:0046600	Process	Negative regulation of centriole replication	IBA
GO:0046600	Process	Negative regulation of centriole replication	IEA
GO:0046600	Process	Negative regulation of centriole replication	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17959831
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0090266	Process	Regulation of mitotic cell cycle spindle assembly checkpoint	IBA
GO:0090266	Process	Regulation of mitotic cell cycle spindle assembly checkpoint	IDA	19282672
GO:0097431	Component	Mitotic spindle pole	IBA
GO:0097431	Component	Mitotic spindle pole	IEA

Other IDs

• MIM: 608201
• HGNC: 18672
• e!Ensembl: ENSG00000136861

Protein

• UniProt ID: Q96SN8
• Protein name: CDK5 regulatory subunit-associated protein 2 (CDK5 activator-binding protein C48) (Centrosome-associated protein 215)
• Protein function: Potential regulator of CDK5 activity via its interaction with CDK5R1 (PubMed:15164053). Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orient
• PDB: 6X0V, 8RX1, 9G40, 9H9P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07989	Cnn_1N	59 → 131	Centrosomin N-terminal motif 1	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:10721722}.
• Sequence:

  MMDLVLEEDVTVPGTLSGCSGLVPSVPDDLDGINPNAGLGNGLLPNVSEETVSPTRARNM
  KDFENQITELKKENFNLKLRIYFLEERMQQEFHGPTEHIYKTNIELKVEVESLKRELQER
  EQLLIKASKAVESLAEAGGSEIQRVKEDARKKVQQVEDLLTKRILLLEKDVTAAQAELEK
  AFAGTETEKALRLRLESKLSEMKKMHEGDLAMALVLDEKDRLIEELKLSLKSKEALIQCL
  KEEKSQMACPDENVSSGELRGLCAAPREEKERETEAAQMEHQKERNSFEERIQALEEDLR
  EKEREIATEKKNSLKRDKAIQGLTMALKSKEKKVEELNSEIEKLSAAFAKAREALQKAQT
  QEFQGSEDYETALSGKEALSAALRSQNLTKSTENHRLRRSIKKITQELSDLQQERERLEK
  DLEEAHREKSKGDCTIRDLRNEVEKLRNEVNEREKAMENRYKSLLSESNKKLHNQEQVIK
  HLTESTNQKDVLLQKFNEKDLEVIQQNCYLMAAEDLELRSEGLITEKCSSQQPPGSKTIF
  SKEKKQSSDYEELIQVLKKEQDIYTHLVKSLQESDSINNLQAELNKIFALRKQLEQDVLS
  YQNLRKTLEEQISEIRRREEESFSLYSDQTSYLSICLEENNRFQVEHFSQEELKKKVSDL
  IQLVKELYTDNQHLKKTIFDLSCMGFQGNGFPDRLASTEQTELLASKEDEDTIKIGEDDE
  INFLSDQHLQQSNEIMKDLSKGGCKNGYLRHTESKISDCDGAHAPGCLEEGAFINLLAPL
  FNEKATLLLESRPDLLKVVRELLLGQLFLTEQEVSGEHLDGKTEKTPKQKGELVHFVQTN
  SFSKPHDELKLSCEAQLVKAGEVPKVGLKDASVQTVATEGDLLRFKHEATREAWEEKPIN
  TALSAEHRPENLHGVPGWQAALLSLPGITNREAKKSRLPILIKPSRSLGNMYRLPATQEV
  VTQLQSQILELQGELKEFKTCNKQLHQKLILAEAVMEGRPTPDKTLLNAQPPVGAAYQDS
  PGEQKGIKTTSSVWRDKEMDSDQQRSYEIDSEICPPDDLASLPSCKENPEDVLSPTSVAT
  YLSSKSQPSAKVSVMGTDQSESINTSNETEYLKQKIHDLETELEGYQNFIFQLQKHSQCS
  EAIITVLCGTEGAQDGLSKPKNGSDGEEMTFSSLHQVRYVKHVKILGPLAPEMIDSRVLE
  NLKQQLEEQEYKLQKEQNLNMQLFSEIHNLQNKFRDLSPPRYDSLVQSQARELSLQRQQI
  KDGHGICVISRQHMNTMIKAFEELLQASDVDYCVAEGFQEQLNQCAELLEKLEKLFLNGK
  SVGVEMNTQNELMERIEEDNLTYQHLLPESPEPSASHALSDYETSEKSFFSRDQKQDNET
  EKTSVMVNSFSQDLLMEHIQEIRTLRKRLEESIKTNEKLRKQLERQGSEFVQGSTSIFAS
  GSELHSSLTSEIHFLRKQNQALNAMLIKGSRDKQKENDKLRESLSRKTVSLEHLQREYAS
  VKEENERLQKEGSEKERHNQQLIQEVRCSGQELSRVQEEVKLRQQLLSQNDKLLQSLRVE
  LKAYEKLDEEHRRLREASGEGWKGQDPFRDLHSLLMEIQALRLQLERSIETSSTLQSRLK
  EQLARGAEKAQEGALTLAVQAVSIPEVPLQPDKHDGDKYPMESDNSFDLFDSSQAVTPKS
  VSETPPLSGNDTDSLSCDSGSSATSTPCVSRLVTGHHLWASKNGRHVLGLIEDYEALLKQ
  ISQGQRLLAEMDIQTQEAPSSTSQELGTKGPHPAPLSKFVSSVSTAKLTLEEAYRRLKLL
  WRVSLPEDGQCPLHCEQIGEMKAEVTKLHKKLFEQEKKLQNTMKLLQLSKRQEKVIFDQL
  VVTHKILRKARGNLELRPGGAHPGTCSPSRPGS

• Sequence length: 1893

Pathways

Reactome:

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
CDK5RAP2-related disorder	Pathogenic	rs771565845, rs374351172	RCV003412000 RCV003398664	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic	rs760836130	RCV005911190	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic	rs1588634016	RCV001003976	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly 3, primary, autosomal recessive	Pathogenic; Likely pathogenic	rs774388179, rs760836130, rs2033156861, rs2131964849, rs2131327802, rs376990082, rs587783393, rs587783392, rs587783390, rs587783387, rs1238054226, rs199422126, rs387906274, rs759709467, rs869025200, rs747831095, rs754282058, rs797045441, rs2539034080, rs2539600093, rs2539762676, rs2539023307, rs2538792415, rs2539210763, rs2539627558, rs1554728351, rs1554730137, rs1588472215, rs746967357, rs2040973121, rs2539023990, rs398122971, rs374351172, rs373278668	RCV001331033 RCV001353052 RCV001353053 RCV001533290 RCV001780472 RCV001780473 RCV000115025 RCV000145493 RCV000145486 RCV000145479 RCV002283415 RCV000002594 RCV000002595 RCV002465445 RCV000207398 RCV000207363 RCV000194268 RCV000194025 RCV003108237 RCV003445307 RCV003987301 RCV003988732 RCV003988737 RCV004527516 RCV004547361 RCV000579386 RCV000515648 RCV001007667 RCV001095685 RCV001255836 RCV001255775 RCV000076922 RCV000076923 RCV000076924	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY	—	ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MALFORMATION SYNDROMES ASSOCIATED WITH SHORT STATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ocular coloboma	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CORPUS CALLOSUM, AGENESIS OF	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotonia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
intellectual deficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 3	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Microcephaly, Recessive	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECKEL SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETHRAL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	36793283	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	23587236, 26197979	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	26197979		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29360470	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	BEFREE	31355417		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	10677332, 17764569, 17959831, 19282672, 22887808, 23587236, 26197979, 26297806, 28004182, 32677750	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	17764569, 21327915, 21632253, 23587236, 23726037, 24148351, 26197979, 26322982, 28004182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly	Microcephaly	CLINVAR_DG			★★☆☆☆ 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
Azoospermia	Azoospermia	Pubtator	38008501	Associate	★☆☆☆☆ Found in Text Mining only
Chronic eosinophilic leukemia	Eosinophilic Leukemia	BEFREE	16845659		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	31980658	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29360470	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	38143740	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	29271474		★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	BEFREE	31355417		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness	Deafness	Pubtator	22887808	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	26197979	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	22887808	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	38008501	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26550838		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36774351	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26987684		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	26550838		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	LHGDN	15793586, 17959831		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	Pubtator	17764569, 23587236, 26297806, 26485573, 28004182, 32677750, 35058575	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	BEFREE	20460369, 21632253, 23587236, 26322982, 28883092, 29271474		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly Primary Autosomal Recessive 3	Microcephaly	Pubtator	28004182	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly, Primary Autosomal Recessive, 3	Microcephaly	CLINVAR_DG	15793586, 27761245, 28778786		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly, Primary Autosomal Recessive, 3	Microcephaly	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly, Primary Autosomal Recessive, 3	Microcephaly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	BEFREE	31355417		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	29360470		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ 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	BEFREE	22887808, 23587236, 23726037, 26550838, 28004182, 28778786, 29271474		★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	39694406	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	39694406	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	24782177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	24782177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	22887808, 29271474		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	28778786		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36774351	Associate	★☆☆☆☆ 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