DEAF1 (DEAF1 transcription factor)

Gene

• Entrez ID: 10522
• Gene name: DEAF1 transcription factor
• Gene symbol: DEAF1
• Synonyms (NCBI Gene): MRD24, NEDHELS, NUDR, SPN, VSVS, ZMYND5
• Chromosome: 11
• Chromosome location: 11p15.5
• Summary: This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777406	A>C	Pathogenic	Intron variant, 5 prime UTR variant, missense variant, coding sequence variant
rs587777408	G>A	Pathogenic	Intron variant, 5 prime UTR variant, missense variant, coding sequence variant
rs587777409	T>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs587777623	G>A	Likely-pathogenic, uncertain-significance	Intron variant, 5 prime UTR variant, missense variant, coding sequence variant
rs751569402	C>T	Uncertain-significance, likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs886040972	T>G	Pathogenic	Intron variant
rs1057519565	C>T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1057524157	A>C,T	Likely-pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant
rs1064796407	A>T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1554943158	CTT>-	Likely-pathogenic	Coding sequence variant, inframe deletion, intron variant
rs1554944271	C>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1554944527	G>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1564950387	A>C	Likely-pathogenic	Splice donor variant
rs1590008294	C>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1590013404	C>T	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024571	hsa-miR-215-5p	Microarray	19074876
MIRT026170	hsa-miR-192-5p	Microarray	19074876
MIRT050256	hsa-miR-25-3p	CLASH	23622248
MIRT048528	hsa-miR-100-5p	CLASH	23622248
MIRT043165	hsa-miR-324-5p	CLASH	23622248
MIRT440830	hsa-miR-210-3p	HITS-CLIP	22473208
MIRT440829	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440830	hsa-miR-210-3p	HITS-CLIP	22473208
MIRT440829	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT2211203	hsa-miR-1207-5p	CLIP-seq
MIRT2211204	hsa-miR-1909	CLIP-seq
MIRT2211205	hsa-miR-4716-3p	CLIP-seq
MIRT2211206	hsa-miR-4723-5p	CLIP-seq
MIRT2211207	hsa-miR-4763-3p	CLIP-seq
MIRT2211203	hsa-miR-1207-5p	CLIP-seq
MIRT2515065	hsa-miR-1291	CLIP-seq
MIRT2515066	hsa-miR-146b-3p	CLIP-seq
MIRT2211204	hsa-miR-1909	CLIP-seq
MIRT2515067	hsa-miR-1915	CLIP-seq
MIRT2515068	hsa-miR-210	CLIP-seq
MIRT2515069	hsa-miR-297	CLIP-seq
MIRT2515070	hsa-miR-31	CLIP-seq
MIRT2515071	hsa-miR-3924	CLIP-seq
MIRT2515072	hsa-miR-4265	CLIP-seq
MIRT2515073	hsa-miR-4296	CLIP-seq
MIRT2515074	hsa-miR-4322	CLIP-seq
MIRT2515075	hsa-miR-433	CLIP-seq
MIRT2515076	hsa-miR-4417	CLIP-seq
MIRT2515077	hsa-miR-455-5p	CLIP-seq
MIRT2515078	hsa-miR-4696	CLIP-seq
MIRT2515079	hsa-miR-4726-3p	CLIP-seq
MIRT2211207	hsa-miR-4763-3p	CLIP-seq
MIRT2515080	hsa-miR-548c-3p	CLIP-seq
MIRT2515081	hsa-miR-567	CLIP-seq
MIRT2515082	hsa-miR-574-3p	CLIP-seq
MIRT2515065	hsa-miR-1291	CLIP-seq
MIRT2515066	hsa-miR-146b-3p	CLIP-seq
MIRT2515068	hsa-miR-210	CLIP-seq
MIRT2515069	hsa-miR-297	CLIP-seq
MIRT2515070	hsa-miR-31	CLIP-seq
MIRT2515071	hsa-miR-3924	CLIP-seq
MIRT2515072	hsa-miR-4265	CLIP-seq
MIRT2515073	hsa-miR-4296	CLIP-seq
MIRT2515074	hsa-miR-4322	CLIP-seq
MIRT2515076	hsa-miR-4417	CLIP-seq
MIRT2515077	hsa-miR-455-5p	CLIP-seq
MIRT2515078	hsa-miR-4696	CLIP-seq
MIRT2515081	hsa-miR-567	CLIP-seq
MIRT2515082	hsa-miR-574-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	24726472
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	24726472
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	24726472
GO:0001650	Component	Fibrillar center	IDA
GO:0001662	Process	Behavioral fear response	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	ISS
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	20368287, 21988832, 22442688, 29636529, 30824926, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19668219
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	19668219
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	TAS	9773984
GO:0007281	Process	Germ cell development	TAS	9773984
GO:0007399	Process	Nervous system development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008542	Process	Visual learning	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9773984
GO:0033599	Process	Regulation of mammary gland epithelial cell proliferation	IDA	18826651
GO:0033599	Process	Regulation of mammary gland epithelial cell proliferation	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	24726472
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	24726472
GO:0046872	Function	Metal ion binding	IEA
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0048706	Process	Embryonic skeletal system development	ISS
GO:0090575	Component	RNA polymerase II transcription regulator complex	IEA

Other IDs

• MIM: 602635
• HGNC: 14677
• e!Ensembl: ENSG00000177030

Protein

• UniProt ID: O75398
• Protein name: Deformed epidermal autoregulatory factor 1 homolog (Nuclear DEAF-1-related transcriptional regulator) (NUDR) (Suppressin) (Zinc finger MYND domain-containing protein 5)
• Protein function: Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5'-AGGG
• PDB: 2JW6, 4A24, 5UWW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01342	SAND	197 → 272	SAND domain	Family
  PF01753	zf-MYND	504 → 540	MYND finger	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in various tissues and cells such as in peripheral mononuclear cells and hormone-secreting pituitary cells. Expression in pancreatic lymph nodes of patients with type 1 diabetes is 20 times higher than in healthy controls. Hi
• Sequence:

  MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERET
  PRVTAVAVMAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVAN
  AASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTP
  LAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEF
  EAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPY
  KRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAV
  ISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVL
  TSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHA
  STYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHIC
  GQSAAVTVQADEVHVAESVMEKVTV

• Sequence length: 565

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
Autism spectrum disorder	Likely pathogenic	rs1564950387	RCV000754682	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism, susceptiblity to	Pathogenic	rs2133402741	RCV003313021	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant non-syndromic intellectual disability	Likely pathogenic	rs201600076	RCV003153287	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DEAF1-related disorder	Likely pathogenic; Pathogenic	rs949860707, rs587777409, rs1417226023, rs587777406, rs1860258814	RCV004728830 RCV003233107 RCV004529102 RCV004528670 RCV004536670	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability, autosomal dominant 24	Likely pathogenic; Pathogenic	rs893284652, rs2133402508, rs587777406, rs587777408, rs587777409, rs1417226023, rs2133402700, rs2133384267, rs2133402741, rs2133402368, rs2494454945, rs1415420832, rs1057519565, rs1554944271, rs1057524157, rs1590008294, rs1590028691, rs746293140, rs1383819913, rs1860668138, rs1860525961, rs1860524875	RCV001724758 RCV004785333 RCV000119804 RCV000119806 RCV000119807 RCV002222872 RCV002249022 RCV002249859 RCV002250916 RCV002264848 RCV002291469 RCV005254642 RCV000417021 RCV000515532 RCV000515517 RCV000988466 RCV000988469 RCV001171481 RCV001171482 RCV001171483 RCV001171484 RCV001253608	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability-epilepsy-extrapyramidal syndrome	Likely pathogenic; Pathogenic	rs753168686, rs587777623, rs2133395081, rs886040972, rs2494378579, rs1057519565, rs1064795813, rs1590028691, rs1860672061, rs1860194524, rs1860257102, rs1858396813, rs1860334710	RCV001591651 RCV000515525 RCV002291311 RCV000258057 RCV003340860 RCV001788214 RCV001171487 RCV006275878 RCV001171479 RCV001171480 RCV001171485 RCV001171486 RCV001251119	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2133394958, rs1057519565	RCV002274410 RCV002274025	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INTELLECTUAL DISABILITY, EPILEPSY, EXTRAPYRAMIDAL SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VULTO-VAN SILFHOUT-DE VRIES SYNDROME	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	CLINVAR_DG	28213671, 28940898		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11705868		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29366832, 31783086, 31827253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CLINVAR_DG	30763456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	CLINVAR_DG	28940898		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	26048982		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	25531106	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34867821	Associate	★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11705868		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	CLINVAR_DG	28940898		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	15534042, 16467535, 19647046, 20026183		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	26866771		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	CLINVAR_DG	28213671, 28940898		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	24682832		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24682832		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	19668219, 25187368		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER	Dyskinesia, Seizures, And Intellectual Developmental Disorder	GENOMICS_ENGLAND_DG	21076407, 30923367		★☆☆☆☆ Found in Text Mining only
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER	Dyskinesia, Seizures, And Intellectual Developmental Disorder	CLINVAR_DG	24668509, 26795593, 26834045, 28940898		★☆☆☆☆ Found in Text Mining only
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER	Dyskinesia, Seizures, And Intellectual Developmental Disorder	ORPHANET_DG	26048982		★☆☆☆☆ Found in Text Mining only
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER	Dyskinesia, Seizures, And Intellectual Developmental Disorder	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	21076407, 22442688, 23020937, 23372760, 24668509, 24726472, 26048982, 26834045, 28213671, 28940898		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26048982		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	24668509, 26795593, 26834045, 28213671, 28940898		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	25187368		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	30923367	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21076407		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	24726472, 25091821, 26048982, 26743651, 26834045, 28940898, 31783086		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	26743651, 28940898	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability-epilepsy-extrapyramidal syndrome	Intellectual Disability-Epilepsy-Extrapyramidal Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leukoencephalopathy	Leukoencephalopathy	BEFREE	24668509, 26834045		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29691085		★☆☆☆☆ Found in Text Mining only
Low frequency deafness	Low-frequency hearing loss	CLINVAR_DG	28940898		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36969247	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	15447813		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	15447813, 15534042, 19878438, 20026183, 22232550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11705868		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21076407		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	15534042, 16467535, 19647046, 20026183		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	26866771		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	15534042		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24	Mental retardation	CLINVAR_DG	11690625, 28213671, 28940898		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24	Mental retardation	UNIPROT_DG	21076407, 24726472		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24	Mental retardation	GENOMICS_ENGLAND_DG	21076407, 26048982		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	26834045		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30923367	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly with Mental Retardation and Digital Anomalies	Microcephaly	Pubtator	28940898	Associate	★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	16467535		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11705868		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	16467535	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22328058		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28940898, 31783086		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23825960	Associate	★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	15534042		★☆☆☆☆ Found in Text Mining only
Pica Disease	Pica	CLINVAR_DG	28213671, 28940898		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21076407		★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	CLINVAR_DG	28213671, 28940898		★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	CLINVAR_DG	28940898		★☆☆☆☆ Found in Text Mining only
Repetitive compulsive behavior	Repetitive compulsive behavior	CLINVAR_DG	28213671, 28940898		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	ORPHANET_DG	28213671		★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	24726472, 25091821		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	15447813		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	15447813, 15534042, 19878438, 20026183, 22232550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations