NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit)

Gene

• Entrez ID: 8260
• Gene name: N-alpha-acetyltransferase 10, NatA catalytic subunit
• Gene symbol: NAA10
• Synonyms (NCBI Gene): ARD1, ARD1A, ARD1P, DXS707, LZMS, MAA, MCOPS1, NATD, OGDNS, TE2, hARD1
• Chromosome: X
• Chromosome location: Xq28
• Summary: N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906701	A>G	Pathogenic	Missense variant, coding sequence variant
rs587776457	A>T	Pathogenic	Splice donor variant
rs587780562	C>A	Pathogenic	Missense variant, coding sequence variant
rs863225427	T>G	Pathogenic	Missense variant, coding sequence variant
rs878853263	A>C,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1057518018	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518605	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057519448	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524031	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1342269961	T>C	Likely-pathogenic	3 prime UTR variant
rs1557107462	G>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1557107528	A>C	Pathogenic	Missense variant, coding sequence variant
rs1557107543	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1557107942	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1557107957	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1569546255	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603289772	T>C	Likely-pathogenic	3 prime UTR variant
rs1603289774	T>C	Likely-pathogenic	3 prime UTR variant
rs1603290291	A>C	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1603290366	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603290816	G>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031471	hsa-miR-16-5p	Proteomics	18668040
MIRT052136	hsa-let-7b-5p	CLASH	23622248
MIRT045213	hsa-miR-186-5p	CLASH	23622248
MIRT042605	hsa-miR-423-3p	CLASH	23622248
MIRT732214	hsa-miR-342-5p	Luciferase reporter assay, qRT-PCR, Western blot	26646451
MIRT732214	hsa-miR-342-5p	Luciferase reporter assay, qRT-PCR, Western blot	26646451
MIRT732215	hsa-miR-608	Luciferase reporter assay, qRT-PCR, Western blot	26646451
MIRT732215	hsa-miR-608	Luciferase reporter assay, qRT-PCR, Western blot	26646451
MIRT1171335	hsa-miR-1227	CLIP-seq
MIRT1171336	hsa-miR-1825	CLIP-seq
MIRT1171337	hsa-miR-3150b-3p	CLIP-seq
MIRT1171338	hsa-miR-3611	CLIP-seq
MIRT1171339	hsa-miR-3677-3p	CLIP-seq
MIRT1171340	hsa-miR-4651	CLIP-seq
MIRT1171341	hsa-miR-4664-5p	CLIP-seq
MIRT1171342	hsa-miR-4689	CLIP-seq
MIRT1171343	hsa-miR-4710	CLIP-seq
MIRT1171344	hsa-miR-4779	CLIP-seq
MIRT1171345	hsa-miR-4784	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004596	Function	Protein-N-terminal amino-acid acetyltransferase activity	IDA	19480662
GO:0004596	Function	Protein-N-terminal amino-acid acetyltransferase activity	IDA	25489052
GO:0004596	Function	Protein-N-terminal amino-acid acetyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	15496142, 16507339, 19480662, 21295525, 25416956, 25489052, 27708256, 28514442, 31515488, 32296183, 32814053, 33961781, 35156780, 36012204, 36442525
GO:0005634	Component	Nucleus	IDA	15496142, 25732826
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7981673
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	15496142, 19480662, 25489052, 25732826
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IDA
GO:0006473	Process	Protein acetylation	IDA	27708256
GO:0006474	Process	N-terminal protein amino acid acetylation	IDA	15496142, 19480662, 25489052
GO:0006475	Process	Internal protein amino acid acetylation	TAS	7981673
GO:0008080	Function	N-acetyltransferase activity	IEA
GO:0008080	Function	N-acetyltransferase activity	TAS	7981673
GO:0008999	Function	Protein-N-terminal-alanine acetyltransferase activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016407	Function	Acetyltransferase activity	IDA	15496142
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016747	Function	Acyltransferase activity, transferring groups other than amino-acyl groups	IEA
GO:0031415	Component	NatA complex	IBA
GO:0031415	Component	NatA complex	IDA	19480662
GO:0031415	Component	NatA complex	IEA
GO:0031415	Component	NatA complex	IPI	15496142, 19480662
GO:0043022	Function	Ribosome binding	IDA	15496142, 19480662
GO:0051276	Process	Chromosome organization	TAS	7981673
GO:1990189	Function	Protein N-terminal-serine acetyltransferase activity	IBA
GO:1990189	Function	Protein N-terminal-serine acetyltransferase activity	IEA
GO:1990190	Function	Protein-N-terminal-glutamate acetyltransferase activity	IBA
GO:2000719	Process	Negative regulation of maintenance of mitotic sister chromatid cohesion, centromeric	IDA	27422821

Other IDs

• MIM: 300013
• HGNC: 18704
• e!Ensembl: ENSG00000102030

Protein

• UniProt ID: P41227
• Protein name: N-alpha-acetyltransferase 10 (EC 2.3.1.255) (N-terminal acetyltransferase complex ARD1 subunit homolog A) (hARD1) (NatA catalytic subunit Naa10)
• Protein function: Catalytic subunit of N-terminal acetyltransferase complexes which display alpha (N-terminal) acetyltransferase activity (PubMed:15496142, PubMed:19420222, PubMed:19826488, PubMed:20145209, PubMed:20154145, PubMed:25489052, PubMed:27708256, PubMe
• PDB: 6C95, 6C9M, 6PPL, 6PW9, 9F1B, 9F1C, 9F1D, 9FPZ, 9FQ0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00583	Acetyltransf_1	13 → 128	Acetyltransferase (GNAT) family	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12464182}.
• Sequence:

  MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGYVLAKM
  EEDPDDVPHGHITSLAVKRSHRRLGLAQKLMDQASRAMIENFNAKYVSLHVRKSNRAALH
  LYSNTLNFQISEVEPKYYADGEDAYAMKRDLTQMADELRRHLELKEKGRHVVLGAIENKV
  ESKGNSPPSSGEACREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS

• Sequence length: 235

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
Intellectual disability	Pathogenic; Likely pathogenic	rs797044868, rs878853264, rs1603290366, rs2065185202	RCV001257765 RCV000824880 RCV000851497 RCV001195646	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmia, syndromic 1	Pathogenic; Likely pathogenic	rs587776457, rs387906701, rs1603289774, rs1603289772, rs2065185202, rs2065171820	RCV000088650 RCV005055521 RCV001215737 RCV001215735 RCV002287477 RCV001249627	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NAA10-related disorder	Likely pathogenic; Pathogenic	rs587780563, rs797044868	RCV004528848 RCV003401042	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NAA10-related syndrome	Likely pathogenic; Pathogenic	rs878853264	RCV005868141	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2065185202	RCV001195297	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ogden syndrome	Pathogenic; Likely pathogenic	rs2065158556, rs2148535042, rs1557107264, rs587780562, rs587780563, rs863225427, rs797044868, rs878853263, rs878853264, rs1057519448, rs387906701, rs1557107462, rs1557107543, rs1557107528, rs1569546255, rs1603290816, rs1603290291, rs1557107942, rs2065171820	RCV001329086 RCV005868330 RCV001789830 RCV000128608 RCV000128609 RCV002283620 RCV000225365 RCV000202352 RCV000225366 RCV000225362 RCV000496143 RCV000416440 RCV000022818 RCV000655942 RCV000578409 RCV000623587 RCV000680044 RCV000789021 RCV000990994 RCV000990995 RCV001249627	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe intellectual disability	Likely pathogenic; Pathogenic	rs2065185202	RCV001195161	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Intellectual disability, autosomal dominant	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kleine-Levin syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA WITH ANKYLOBLEPHARON AND INTELLECTUAL DISABILITY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, LENZ TYPE	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ABLEPHARON-MACROSTOMIA SYNDROME	Ablepharon macrostomia syndrome	BEFREE	30278484		★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	16705796		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Anophthalmia	Pubtator	30842225	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28222187, 29329335		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28222187, 29329335		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	33335012	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	31174490	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31127942	Associate	★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	34200686	Associate	★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	28390180		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	35039925	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	9176405	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19909012, 22292636, 23550278, 30154412		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast Diseases	BEFREE	22292636		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26663084, 32162442	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12079511	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17108104, 19909012, 25374231, 27585262		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33275221	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	29748569	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	29748569, 31174490	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliary body coloboma	Ciliary body coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	33103328	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	18325661		★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31813105		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18325661		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20639454	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	33103328	Associate	★☆☆☆☆ Found in Text Mining only
Congenital ankyloblepharon	Congenital Ankyloblepharon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	36810866	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	36810866	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	24408909, 25099252, 27094817, 29748569, 31088393, 31174490, 32698785, 33103328, 33335012, 35039925	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	29558889		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	36810866	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	28933526		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	25099252		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34200686	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36433943	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	34200686, 35039925	Associate	★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	22292636		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	26522270	Associate	★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	36810866	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25099252, 26522270, 27094817, 29748569, 31174490		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	27094817, 34200686	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	27094817, 31174490, 32698785, 35039925	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Congenital heart septal defect	Pubtator	34200686	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	BEFREE	27163461		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	29709919		★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	32698785	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	29516280		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23871722, 25099252, 26522270, 27094817, 29558889, 29748569, 31088393, 31127942, 31174490, 32698785, 33103328, 34200686, 35039925, 36810866	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	26522270, 29558889, 30054457, 31174490		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Development Disorders	Language development disorders	Pubtator	32698785, 34200686	Associate	★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	24431331		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	24431331		★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23258102, 30054466, 31332585, 31388721		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	12079511	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	26522270	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28301945		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	30933423	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21295525	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21295525	Inhibit	★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19909012, 22292636, 23550278, 30154412		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17108104, 19909012, 25374231, 27585262		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22315407, 30054487		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21351257, 30054466, 31568192, 31813105		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31813105		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10048982, 9176405	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	14502218, 15305155, 18831916, 2302716		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	27094817, 31174490	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	31174490		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmia syndromic 1	Microphthalmia	Pubtator	24431331, 26522270, 30842225, 31127942	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmia syndromic 2	Microphthalmia	Pubtator	30842225	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmia, Lenz type	Microphthalmia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, syndromic 1	Syndromic microphthalmia	BEFREE	24431331, 31127942		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microphthalmia, syndromic 1	Syndromic microphthalmia	GENOMICS_ENGLAND_DG	24431331		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microphthalmia, syndromic 1	Syndromic microphthalmia	ORPHANET_DG	24431331		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microphthalmia, syndromic 1	Syndromic microphthalmia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microphthalmia, syndromic 1	Syndromic microphthalmia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microphthalmos	Microphthalmos	BEFREE	24431331, 31127942		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	30842225, 31127942, 37130971	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20194889, 22261620, 29960050, 30028540, 31134698, 31332585		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus, Type I	Nephrogenic Diabetes Insipidus	BEFREE	16781893		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31422874		★☆☆☆☆ Found in Text Mining only
Ogden syndrome	Ogden Syndrome	ORPHANET_DG	21700266		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ogden syndrome	Ogden Syndrome	UNIPROT_DG	21700266, 25489052, 26522270, 31174490		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ogden syndrome	Ogden Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ogden syndrome	Ogden Syndrome	BEFREE	24431331, 26522270, 27094817, 28943313, 28967461, 29558889, 30054457, 31174490		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ogden syndrome	Ogden Syndrome	GENOMICS_ENGLAND_DG	24431331		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ogden syndrome	Ogden Syndrome	CLINVAR_DG	28327206		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ogden syndrome	Ogden Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29960050		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	16279846		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	31361645		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28084469		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	35039925	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22315407, 30054487		★☆☆☆☆ Found in Text Mining only
Psychomotor Agitation	Psychiatric disorders	Pubtator	32698785	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30933423		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	29656860	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	27094817		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30028540, 31134698		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34060226	Associate	★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32377988	Associate	★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	33103328	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tyrosinemia, Type I	Tyrosinemia	BEFREE	16263080		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35669725	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	33103328	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	35039925, 37130971	Associate	★☆☆☆☆ Found in Text Mining only