CPAP (centrosome assembly and centriole elongation protein)

Gene

• Entrez ID: 55835
• Gene name: Centrosome assembly and centriole elongation protein
• Gene symbol: CPAP
• Synonyms (NCBI Gene): BM032, CENP-J, CENPJ, LAP, LIP1, MCPH6, SASS4, SCKL4, Sas-4
• Chromosome: 13
• Chromosome location: 13q12.12-q12.13

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138228629	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs143258862	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs143260721	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs199422202	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs199422203	ACTG>-	Pathogenic	Genic downstream transcript variant, intron variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs200213585	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs201088712	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201111299	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs201822162	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs202058504	G>C	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs374057641	G>A	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs749343808	G>A,C	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs759188041	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs765113367	C>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs769916634	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs777893196	AAGA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs786205481	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs797045447	T>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs797045448	AG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs797045449	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs797045450	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs797045452	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs797045454	CT>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886041674	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886043932	AACT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064794036	CTCT>-,CT	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1555297827	C>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1555299107	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1566295297	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000829	hsa-miR-15a-5p	Microarray	18362358
MIRT000828	hsa-miR-16-5p	Microarray	18362358
MIRT016265	hsa-miR-193b-3p	Microarray	20304954
MIRT721865	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT721864	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT721863	hsa-miR-412-3p	HITS-CLIP	19536157
MIRT721862	hsa-miR-6754-3p	HITS-CLIP	19536157
MIRT721861	hsa-miR-6837-3p	HITS-CLIP	19536157
MIRT721860	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT721859	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT721858	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT721857	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT721856	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT721855	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT721865	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT721864	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT721863	hsa-miR-412-3p	HITS-CLIP	19536157
MIRT721862	hsa-miR-6754-3p	HITS-CLIP	19536157
MIRT721861	hsa-miR-6837-3p	HITS-CLIP	19536157
MIRT721860	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT721859	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT721858	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT721857	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT721856	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT721855	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT884948	hsa-miR-1263	CLIP-seq
MIRT884949	hsa-miR-4637	CLIP-seq
MIRT884950	hsa-miR-4724-5p	CLIP-seq
MIRT884951	hsa-miR-4735-5p	CLIP-seq
MIRT884952	hsa-miR-4775	CLIP-seq
MIRT884953	hsa-miR-590-3p	CLIP-seq
MIRT884954	hsa-miR-601	CLIP-seq
MIRT1962456	hsa-miR-486-5p	CLIP-seq
MIRT2198848	hsa-miR-1825	CLIP-seq
MIRT2198849	hsa-miR-199a-5p	CLIP-seq
MIRT2198850	hsa-miR-199b-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003713	Function	Transcription coactivator activity	IDA	12198240
GO:0005515	Function	Protein binding	IPI	11003675, 16516142, 16713569, 20531387, 20852615, 20936779, 22020124, 22699936, 23511974, 24076405, 25385835, 26638075, 32296183, 35271311
GO:0005737	Component	Cytoplasm	IDA	12198240, 22020124
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	11003675, 21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IDA	17681131, 20531387, 22020124
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0007020	Process	Microtubule nucleation	TAS	11003675
GO:0007099	Process	Centriole replication	IEA
GO:0007099	Process	Centriole replication	IEA
GO:0007099	Process	Centriole replication	IMP	17681131, 22020124
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0008275	Component	Gamma-tubulin small complex	NAS	11003675
GO:0015631	Function	Tubulin binding	IBA
GO:0015631	Function	Tubulin binding	IDA	15047868
GO:0019901	Function	Protein kinase binding	IPI	20531387
GO:0019904	Function	Protein domain specific binding	IPI	11984006
GO:0030954	Process	Astral microtubule nucleation	IDA	11003675
GO:0036064	Component	Ciliary basal body	IEA
GO:0042802	Function	Identical protein binding	IPI	24076405
GO:0043015	Function	Gamma-tubulin binding	IDA	11003675
GO:0044458	Process	Motile cilium assembly	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	12198240
GO:0046599	Process	Regulation of centriole replication	IMP	20531387
GO:0046601	Process	Positive regulation of centriole replication	IDA	22020124
GO:0046785	Process	Microtubule polymerization	IMP	15047868
GO:0051298	Process	Centrosome duplication	IEA
GO:0051301	Process	Cell division	NAS	11003675
GO:0060236	Process	Regulation of mitotic spindle organization	NAS	17576815
GO:0060271	Process	Cilium assembly	IBA
GO:0061511	Process	Centriole elongation	IBA
GO:0061511	Process	Centriole elongation	IDA	22020124
GO:0098534	Process	Centriole assembly	IEA
GO:0120099	Component	Procentriole replication complex	IPI	22020124
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IDA	22020124
GO:1902117	Process	Positive regulation of organelle assembly	IEA
GO:1902857	Process	Positive regulation of non-motile cilium assembly	IEA
GO:1903724	Process	Positive regulation of centriole elongation	IMP	27185865
GO:1904951	Process	Positive regulation of establishment of protein localization	IMP	27185865
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1905832	Process	Positive regulation of spindle assembly	NAS	17576815

Other IDs

• MIM: 609279
• HGNC: 17272
• e!Ensembl: ENSG00000151849

Protein

• UniProt ID: Q9HC77
• Protein name: Centrosomal P4.1-associated protein (Centromere protein J) (CENP-J) (Centrosome assembly and centriole elongation protein) (LAG-3-associated protein) (LYST-interacting protein 1)
• Protein function: Plays an important role in cell division and centrosome function by participating in centriole duplication (PubMed:17681131, PubMed:20531387). Inhibits microtubule nucleation from the centrosome. Involved in the regulation of slow processive gro
• PDB: 5EIB, 5ITZ, 7Q1E, 7Q1F, 7Z0F, 7Z0G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07202	Tcp10_C	1148 → 1181	T-complex protein 10 C-terminus	Repeat
  PF07202	Tcp10_C	1221 → 1253	T-complex protein 10 C-terminus	Repeat
  PF07202	Tcp10_C	1257 → 1291	T-complex protein 10 C-terminus	Repeat
  PF07202	Tcp10_C	1293 → 1326	T-complex protein 10 C-terminus	Repeat

• Sequence:

  MFLMPTSSELNSGQNFLTQWMTNPSRAGVILNRGFPILEADKEKRAAVDISTSFPIKGTH
  FSDSFSFINEEDSLLEEQKLESNNPYKPQSDKSETHTAFPCIKKGPQVAACHSAPGHQEE
  NKNDFIPDLASEFKEGAYKDPLFKKLEQLKEVQQKKQEQLKRQQLEQLQRLMEEQEKLLT
  MVSGQCTLPGLSLLPDDQSQKHRSPGNTTTGERATCCFPSYVYPDPTQEETYPSNILSHE
  QSNFCRTAHGDFVLTSKRASPNLFSEAQYQEAPVEKNNLKEENRNHPTGESILCWEKVTE
  QIQEANDKNLQKHDDSSEVANIEERPIKAAIGERKQTFEDYLEEQIQLEEQELKQKQLKE
  AEGPLPIKAKPKQPFLKRGEGLARFTNAKSKFQKGKESKLVTNQSTSEDQPLFKMDRQQL
  QRKTALKNKELCADNPILKKDSKARTKSGSVTLSQKPKMLKCSNRKSLSPSGLKIQTGKK
  CDGQFRDQIKFENKVTSNNKENVTECPKPCDTGCTGWNKTQGKDRLPLSTGPASRLAAKS
  PIRETMKESESSLDVSLQKKLETWEREKEKENLELDEFLFLEQAADEISFSSNSSFVLKI
  LERDQQICKGHRMSSTPVKAVPQKTNPADPISHCNRSEDLDHTAREKESECEVAPKQLHS
  LSSADELREQPCKIRKAVQKSTSENQTEWNARDDEGVPNSDSSTDSEEQLDVTIKPSTED
  RERGISSREDSPQVCDDKGPFKDTRTQEDKRRDVDLDLSDKDYSSDESIMESIKHKVSEP
  SRSSSLSLSKMDFDDERTWTDLEENLCNHDVVLGNESTYGTPQTCYPNNEIGILDKTIKR
  KIAPVKRGEDLSKSRRSRSPPTSELMMKFFPSLKPKPKSDSHLGNELKLNISQDQPPGDN
  ARSQVLREKIIELETEIEKFKAENASLAKLRIERESALEKLRKEIADFEQQKAKELARIE
  EFKKEEMRKLQKERKVFEKYTTAARTFPDKKEREEIQTLKQQIADLREDLKRKETKWSST
  HSRLRSQIQMLVRENTDLREEIKVMERFRLDAWKRAEAIESSLEVEKKDKLANTSVRFQN
  SQISSGTQVEKYKKNYLPMQGNPPRRSKSAPPRDLGNLDKGQAASPREPLEPLNFPDPEY
  KEEEEDQDIQGEISHPDGKVEKVYKNGCRVILFPNGTRKEVSADGKTITVTFFNGDVKQV
  MPDQRVIYYYAAAQTTHTTYPEGLEVLHFSSGQIEKHYPDGRKEITFPDQTVKNLFPDGQ
  EESIFPDGTIVRVQRDGNKLIEFNNGQRELHTAQFKRREYPDGTVKTVYANGHQETKYRS
  GRIRVKDKEGNVLMDTEL

• Sequence length: 1338

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
TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
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
Autosomal recessive primary microcephaly	Likely pathogenic; Pathogenic	rs797045454	RCV000825515	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CENPJ-related disorder	Likely pathogenic	rs2541687655	RCV004528002	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Likely pathogenic; Pathogenic	rs199422203	RCV001391259	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly type 3	Pathogenic	rs759188041, rs201111299	RCV001004050 RCV001004049	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic; Pathogenic	rs199422203	RCV001391259	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly 1, primary, autosomal recessive	Pathogenic	rs199422202	RCV000856752	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly 6, primary, autosomal recessive	Pathogenic; Likely pathogenic	rs761856922, rs1053431940, rs2138660627, rs199422202, rs121434311, rs199422203, rs587783410, rs202058504, rs1283083598, rs797045450, rs747993775, rs201822162, rs138228629, rs759188041, rs864321658, rs763715733, rs749343808, rs1555294652, rs1555299107, rs201111299, rs765113367, rs766383740	RCV001335002 RCV002221981 RCV002227861 RCV000001890 RCV000001891 RCV000001892 RCV000145577 RCV000145556 RCV004819246 RCV002485285 RCV003123512 RCV002487179 RCV002265719 RCV003137874 RCV003987328 RCV000477911 RCV000762911 RCV000678241 RCV000678242 RCV005429258 RCV002227494 RCV001255765	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Moderate intellectual disability	Pathogenic	rs759188041, rs201111299	RCV001004050 RCV001004049	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Perisylvian polymicrogyria	Pathogenic	rs759188041, rs201111299	RCV001004050 RCV001004049	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary microcephaly	Pathogenic	rs759188041, rs201111299	RCV001004050 RCV001004049	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seckel syndrome 4	Pathogenic; Likely pathogenic	rs1954548327, rs202058504, rs1283083598, rs797045452, rs797045450, rs797045449, rs797045448, rs777893196, rs797045447, rs797045454, rs201822162, rs864321658, rs763715733, rs1131691823, rs749343808, rs765113367	RCV001335001 RCV000762912 RCV004819246 RCV000194172 RCV000192998 RCV000194611 RCV000192528 RCV000194484 RCV000192408 RCV000193152 RCV002487179 RCV000001893 RCV000477911 RCV002266969 RCV000762911 RCV005012289	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seckel syndrome 5	Pathogenic	rs1060499557	RCV000470349	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MICROCEPHALY 6 WITH OR WITHOUT SHORT STATURE	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Microcephaly, Recessive	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seckel syndrome	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seckel syndrome 1	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign; Likely 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
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	24558424		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26582240		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	31595851		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30685849		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30685849		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	33463103	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	16900296, 24148351, 24385583		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	19889632, 22699936, 32677750, 35281599, 35404385	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal Recessive Primary Microcephaly	Microcephaly	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal Recessive Primary Microcephaly	Microcephaly	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive primary microcephaly	Microcephaly	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	1702329		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10336460, 21854628, 25803781	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	BEFREE	28192893, 29382794		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	30609929, 31654526		★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	25190493	Associate	★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	25190493		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25402211	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30268694		★☆☆☆☆ Found in Text Mining only
Carnevale syndrome	3MC syndrome	BEFREE	27986462, 28847549		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	29223554		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	1702329		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29371025		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	14707053, 30250234		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	26589955	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28210081	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	30539239		★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28417254, 29534158, 29884256, 30213463, 30852235		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29308313, 29515762		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis laxa, x-linked	Cutis Laxa, X-Linked	BEFREE	27852952, 29146865, 31682462, 31726017		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29067558		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30685849		★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	BEFREE	30539239		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29028482	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27860160, 28527878, 29028482, 31128116		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	20522431		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	28619177		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	16477625		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	36415692	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35797221	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25553100		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35797221	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28417254, 29534158, 29884256, 30213463, 30852235		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	25700434		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	25700434		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	37181035	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	29800541		★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	31411059	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	29028482	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29028482, 29146865, 29788034, 31682462		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35967314	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	BEFREE	31628619		★☆☆☆☆ Found in Text Mining only
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	17868323		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	3324409		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	1702329		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27659348, 31185790		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30755075		★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	BEFREE	3324409		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10336460		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	LHGDN	15793586		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	16900296		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	BEFREE	20522431		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	Pubtator	24052813, 24997988, 28448044, 32677750, 34068194, 35281599	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	Microcephaly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly, Primary Autosomal Recessive, 6	Microcephaly	UNIPROT_DG	15793586, 22020124		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly, Primary Autosomal Recessive, 6	Microcephaly	GENOMICS_ENGLAND_DG	16900296, 20522431		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly, Primary Autosomal Recessive, 6	Microcephaly	BEFREE	20978018		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly, Primary Autosomal Recessive, 6	Microcephaly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly, Primary Autosomal Recessive, 6	Microcephaly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder)	Microcephaly	BEFREE	20978018		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multinodular goiter	Multinodular goiter	BEFREE	30890403		★☆☆☆☆ Found in Text Mining only
Narcolepsy 1	Narcolepsy	Pubtator	28107375	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy type 1	Narcolepsy	BEFREE	28107375		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10760820, 22841678, 23426124, 30319138		★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nocturia	Nocturia	BEFREE	31595851		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28533672		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29028482, 29892042		★☆☆☆☆ Found in Text Mining only
Osteofibrous Dysplasia	Osteofibrous Dysplasia	BEFREE	24997988		★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	15172756, 18682509, 18826577, 8156527		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31185790		★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	11741830, 12438709		★☆☆☆☆ Found in Text Mining only
PITUITARY DWARFISM I	Pituitary dwarfism	BEFREE	20522431		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28201826		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	3324409		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	27707436		★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	16900296		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary microcephaly	Microcephaly	BEFREE	22020124		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Quadriplegia	Quadriplegia	BEFREE	30538163		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	30557980		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29308313, 29515762		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome	Respiratory Distress Syndrome	BEFREE	30957682		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	30957682		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	29543861, 30836813, 30957682		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	34238216	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	18162190		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	23418382	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	BEFREE	20522431		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seckel syndrome	Seckel Syndrome	GENOMICS_ENGLAND_DG	20522431		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seckel syndrome	Seckel Syndrome	ORPHANET_DG	20522431		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seckel syndrome	Seckel Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seckel syndrome 1	Seckel syndrome	Pubtator	26929011, 34068194	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECKEL SYNDROME 4	Seckel Syndrome	GENOMICS_ENGLAND_DG	16900296, 20522431		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SECKEL SYNDROME 4	Seckel Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SECKEL SYNDROME 4	Seckel Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SECKEL SYNDROME 5	Seckel Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seminoma	Seminoma	Pubtator	2781220	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	28374832, 28619177, 29073254, 29273515, 29672622, 29741736, 30268694, 30555029, 30989665, 31542452, 31842520		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	28417254, 29884256, 30498277		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	27707436, 27871083, 28243782, 28667231, 28684586, 28807565, 28982804, 29059008, 29067558, 29198296, 29371025, 29417392, 29520669, 29534971, 29540289, 29617414, 29734986, 29931537, 30203008, 30262209, 30498277, 30685849, 30736887, 30927057, 30993468, 31110031, 31113410, 31116781, 31309464, 31467191, 31595851, 31682462, 31760586, 31781313		★☆☆☆☆ Found in Text Mining only
Sleep-Disordered Breathing	Sleep Apnea	BEFREE	28619177, 28767574, 29066388, 29956104		★☆☆☆☆ Found in Text Mining only
Spinal stenosis of lumbar region	Spinal Stenosis Of Lumbar Region	BEFREE	29351748		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25402211		★☆☆☆☆ Found in Text Mining only
STOMATOCYTOSIS I	Stomatocytosis	BEFREE	27852952, 29146865, 31682462, 31726017		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	17577920	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	17577920		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	16477625		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	16477625		★☆☆☆☆ Found in Text Mining only
Type III lissencephaly	Lissencephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30425718		★☆☆☆☆ 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