TBR1 (T-box brain transcription factor 1)

Gene

• Entrez ID: 10716
• Gene name: T-box brain transcription factor 1
• Gene symbol: TBR1
• Synonyms (NCBI Gene): AUTS5, IDDAS, TBR-1, TES-56
• Chromosome: 2
• Chromosome location: 2q24.2
• Summary: This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of numerous developmental processes. In mouse, the ortholog of this gene is express

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs762713626	C>G,T	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs869312704	->GGCTGCA	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic, not-provided	Frameshift variant, coding sequence variant
rs1553510171	C>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1553510215	G>C	Pathogenic	Coding sequence variant, missense variant
rs1553510217	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553510280	GTTTTAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553510301	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553510303	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1553510313	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553510385	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553510472	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553510492	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1553510677	A>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1553510680	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553511175	ACG>CA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553511216	->GCCCGCAGTC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553511224	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553511226	GC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1559060428	G>T	Pathogenic	Coding sequence variant, missense variant
rs1574152522	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1574152672	->C	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT621869	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT621868	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT621867	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT621866	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT621865	hsa-miR-6777-5p	HITS-CLIP	23824327
MIRT621864	hsa-miR-6889-5p	HITS-CLIP	23824327
MIRT621863	hsa-miR-542-5p	HITS-CLIP	23824327
MIRT737510	hsa-miR-101-3p	Western blotting, Microarray, Immunofluorescence, qRT-PCR	33955520
MIRT621869	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT621868	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT621867	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT621866	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT621865	hsa-miR-6777-5p	HITS-CLIP	23824327
MIRT621864	hsa-miR-6889-5p	HITS-CLIP	23824327
MIRT621863	hsa-miR-542-5p	HITS-CLIP	23824327
MIRT1414932	hsa-miR-141	CLIP-seq
MIRT1414933	hsa-miR-1908	CLIP-seq
MIRT1414934	hsa-miR-200a	CLIP-seq
MIRT1414935	hsa-miR-27a	CLIP-seq
MIRT1414936	hsa-miR-27b	CLIP-seq
MIRT1414937	hsa-miR-3648	CLIP-seq
MIRT1414938	hsa-miR-375	CLIP-seq
MIRT1414939	hsa-miR-3960	CLIP-seq
MIRT1414940	hsa-miR-4282	CLIP-seq
MIRT1414941	hsa-miR-4436b-5p	CLIP-seq
MIRT1414942	hsa-miR-4438	CLIP-seq
MIRT1414943	hsa-miR-513a-5p	CLIP-seq
MIRT1414944	hsa-miR-615-5p	CLIP-seq
MIRT1414945	hsa-miR-663	CLIP-seq
MIRT1414946	hsa-miR-744	CLIP-seq
MIRT1414933	hsa-miR-1908	CLIP-seq
MIRT1414937	hsa-miR-3648	CLIP-seq
MIRT1414939	hsa-miR-3960	CLIP-seq
MIRT1414944	hsa-miR-615-5p	CLIP-seq
MIRT1414945	hsa-miR-663	CLIP-seq
MIRT1414946	hsa-miR-744	CLIP-seq
MIRT1414933	hsa-miR-1908	CLIP-seq
MIRT1414937	hsa-miR-3648	CLIP-seq
MIRT1414939	hsa-miR-3960	CLIP-seq
MIRT1414945	hsa-miR-663	CLIP-seq
MIRT1414946	hsa-miR-744	CLIP-seq
MIRT1414933	hsa-miR-1908	CLIP-seq
MIRT1414937	hsa-miR-3648	CLIP-seq
MIRT1414939	hsa-miR-3960	CLIP-seq
MIRT1414945	hsa-miR-663	CLIP-seq
MIRT1414946	hsa-miR-744	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001661	Process	Conditioned taste aversion	IEA
GO:0001708	Process	Cell fate specification	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	7619531
GO:0005515	Function	Protein binding	IPI	30250039, 32814053, 35140242
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	25232744
GO:0005634	Component	Nucleus	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	TAS	7619531
GO:0010092	Process	Specification of animal organ identity	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010975	Process	Regulation of neuron projection development	IBA
GO:0010975	Process	Regulation of neuron projection development	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0021764	Process	Amygdala development	IEA
GO:0021902	Process	Commitment of neuronal cell to specific neuron type in forebrain	IBA
GO:0021902	Process	Commitment of neuronal cell to specific neuron type in forebrain	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030902	Process	Hindbrain development	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	25232744
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:1902667	Process	Regulation of axon guidance	IEA

Other IDs

• MIM: 604616
• HGNC: 11590
• e!Ensembl: ENSG00000136535

Protein

• UniProt ID: Q16650
• Protein name: T-box brain protein 1 (T-brain-1) (TBR-1) (TES-56)
• Protein function: Transcriptional repressor involved in multiple aspects of cortical development, including neuronal migration, laminar and areal identity, and axonal projection (PubMed:25232744, PubMed:30250039). As transcriptional repressor of FEZF2, it blocks
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00907	T-box	206 → 393	T-box	Domain
  PF16176	T-box_assoc	418 → 680	T-box transcription factor-associated	Family

• Tissue specificity: TISSUE SPECIFICITY: Brain.
• Sequence:

  MQLEHCLSPSIMLSKKFLNVSSSYPHSGGSELVLHDHPIISTTDNLERSSPLKKITRGMT
  NQSDTDNFPDSKDSPGDVQRSKLSPVLDGVSELRHSFDGSAADRYLLSQSSQPQSAATAP
  SAMFPYPGQHGPAHPAFSIGSPSRYMAHHPVITNGAYNSLLSNSSPQGYPTAGYPYPQQY
  GHSYQGAPFYQFSSTQPGLVPGKAQVYLCNRPLWLKFHRHQTEMIITKQGRRMFPFLSFN
  ISGLDPTAHYNIFVDVILADPNHWRFQGGKWVPCGKADTNVQGNRVYMHPDSPNTGAHWM
  RQEISFGKLKLTNNKGASNNNGQMVVLQSLHKYQPRLHVVEVNEDGTEDTSQPGRVQTFT
  FPETQFIAVTAYQNTDITQLKIDHNPFAKGFRDNYDTIYTGCDMDRLTPSPNDSPRSQIV
  PGARYAMAGSFLQDQFVSNYAKARFHPGAGAGPGPGTDRSVPHTNGLLSPQQAEDPGAPS
  PQRWFVTPANNRLDFAASAYDTATDFAGNAATLLSYAAAGVKALPLQAAGCTGRPLGYYA
  DPSGWGARSPPQYCGTKSGSVLPCWPNSAAAAARMAGANPYLGEEAEGLAAERSPLPPGA
  AEDAKPKDLSDSSWIETPSSIKSIDSSDSGIYEQAKRRRISPADTPVSESSSPLKSEVLA
  QRDCEKNCAKDISGYYGFYSHS

• Sequence length: 682

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
Abnormal brainstem MRI signal intensity	Likely pathogenic; Pathogenic	rs869312704	RCV001200907	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aggressive behavior	Likely pathogenic	rs1553510182, rs1684181938, rs1684275626	RCV001200911 RCV001200913 RCV001200916	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aplasia/Hypoplasia of the corpus callosum	Likely pathogenic; Pathogenic	rs1553510492	RCV000761565	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Attention deficit hyperactivity disorder	Likely pathogenic	rs1553510182, rs1684167000	RCV001200911 RCV001200912	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical behavior	Likely pathogenic; Pathogenic	rs1553510492	RCV000761565	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic behavior	Likely pathogenic; Pathogenic	rs869312704, rs1553510171, rs1553510217, rs1553510280, rs1553510301, rs1553510313, rs1553510385, rs762713626, rs1553510680, rs1553511175, rs1553511216, rs1553511226, rs1553510182, rs1684167000, rs1684181938	RCV000627109 RCV000627098 RCV000627099 RCV000627100 RCV000627101 RCV000627103 RCV000627104 RCV000627106 RCV000627107 RCV000627108 RCV000627112 RCV000627114 RCV001200911 RCV001200912 RCV001200913	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Delayed fine motor development	Likely pathogenic; Pathogenic	rs869312704, rs1684167000, rs1684275626	RCV001200907 RCV001200912 RCV001200916	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal cortical dysplasia	Likely pathogenic; Pathogenic	rs869312704	RCV001200915	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gait ataxia	Likely pathogenic; Pathogenic	rs869312704	RCV001200914	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gait disturbance	Likely pathogenic	rs1684275626	RCV001200916	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoplasia of the frontal lobes	Likely pathogenic; Pathogenic	rs869312704	RCV001200914	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder with autism and speech delay	Likely pathogenic; Pathogenic	rs2105280472, rs2105280445, rs2105279320, rs2105278194, rs2468098872, rs2468098938, rs2468093926, rs869312704, rs1553510679, rs2468099183, rs2468090604, rs2468090992, rs1231294235, rs2468090210, rs2468098890, rs1553510280, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1574152522, rs1574152672	RCV004789557 RCV001788531 RCV001754566 RCV006261770 RCV002291185 RCV002468806 RCV002571628 RCV000735645 RCV003120249 RCV003131707 RCV003315177 RCV003484544 RCV003989441 RCV004577968 RCV004595050 RCV005870707 RCV000735639 RCV000735640 RCV000735641 RCV000735642 RCV000735643 RCV000735644 RCV000986841 RCV000995661	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	Likely pathogenic; Pathogenic	rs869312704	RCV002515568	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs869312704, rs1553510280, rs1553511175, rs1553511226	RCV000509230 RCV001260801 RCV001260821 RCV001260826	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limb myoclonus	Likely pathogenic	rs1684181938	RCV001200913	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic	rs1553510385	RCV000850483	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moderate global developmental delay	Likely pathogenic; Pathogenic	rs869312704, rs1553510171, rs1553510280, rs1553510303, rs1553510313, rs1553510385, rs1553510492, rs762713626, rs1553510680, rs1553511175, rs1553510182, rs1684167000	RCV000627110 RCV000627098 RCV000627100 RCV000627102 RCV000627103 RCV000627104 RCV000627105 RCV000627106 RCV000627107 RCV000627108 RCV001200911 RCV001200912	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2105280472, rs2105278359, rs869312704	RCV001374949 RCV002272824 RCV000505228	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs869312704, rs1553510492, rs1684275626	RCV001200915 RCV000761565 RCV001200916	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe global developmental delay	Likely pathogenic; Pathogenic	rs869312704, rs1553510217, rs1553510301, rs1553511216, rs1553511224, rs1553511226, rs1684181938, rs1684275626	RCV000627109 RCV000627099 RCV000627101 RCV000627112 RCV000627113 RCV000627114 RCV001200913 RCV001200916	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TBR1-related disorder	Likely pathogenic	rs2468091740, rs2468093706	RCV003397683 RCV003410523	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL MALFORMATIONS, OCCIPITAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DELAY-LANGUAGE IMPAIRMENT-DOPA RESPONSIVE DYSTONIA-PARKINSONISM SYNDROME DUE TO 2Q24 MICRODELETION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2q24 microdeletion syndrome	2q24 microdeletion syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	28158988	Associate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	25232744	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	23160955, 30250039, 32144139, 32948248, 33948885	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27325115, 28234597, 29288087, 30250039, 30268909, 30318412, 30792833, 31680851		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autistic behavior	Autism	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autistic Disorder	Autism	BEFREE	19267418, 19401682, 23431145, 24599690, 25232744, 27325115, 28057268, 28234597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	19401682, 24599690, 25232744, 32948248, 40004448	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	GENOMICS_ENGLAND_DG	23160955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32070431	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	33948885	Associate	★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL MALFORMATIONS, OCCIPITAL	Cortical Occipital Malformations	ORPHANET_DG	30268909		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	19267418, 30250039	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	20411268	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	25556567	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	15494095	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic hippocampus	Hypoplastic hippocampus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY	Intellectual Developmental Disorder With Autism And Speech Delay	UNIPROT_DG	14593429, 22495311, 23160955, 25232744, 25356899, 25363760, 25418537, 30250039		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY	Intellectual Developmental Disorder With Autism And Speech Delay	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	BEFREE	23431145, 23444363, 24458984, 28057268, 28234597, 29728193, 30268909		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	23444363, 32948248, 34794744, 35837997	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Disorders	Language development disorders	Pubtator	25232744, 32948248	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	22832583	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	23160955	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	36744877	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	36744877	Stimulate	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30250039		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Occipital pachygyria and polymicrogyria	Occipital Pachygyria And Polymicrogyria	Orphanet			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	BEFREE	30268909		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29288087, 31680851		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30446636		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only