BRAT1 (BRCA1 associated ATM activator 1)

Gene

• Entrez ID: 221927
• Gene name: BRCA1 associated ATM activator 1
• Gene symbol: BRAT1
• Synonyms (NCBI Gene): BAAT1, C7orf27, NEDCAS, RMFSL
• Chromosome: 7
• Chromosome location: 7p22.3
• Summary: The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signall

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61729932	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 3 prime UTR variant, missense variant, coding sequence variant
rs61753094	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs140833277	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant
rs145833100	C>T	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs147005619	T>A	Likely-pathogenic	Intron variant, genic upstream transcript variant, splice acceptor variant
rs147745609	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs200502048	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	3 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs727505363	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs727505364	GA>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs727505365	C>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs730880324	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs749240175	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs754341393	G>-,GG	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs756489141	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs759216914	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, intron variant
rs763527391	ACAA>-	Likely-pathogenic, uncertain-significance	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant
rs773772842	CA>-	Pathogenic	Inframe indel, coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained, upstream transcript variant
rs776913277	->T	Pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs794729222	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, stop gained
rs869312931	C>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs886039312	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064796877	C>T	Pathogenic	Coding sequence variant, splice acceptor variant, synonymous variant
rs1085307958	A>G	Pathogenic, likely-pathogenic	Genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1131691679	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs1224820591	TCCCCACCACCGTACCGTGGGGCTGGAGCCGGGGCTCTCGA>-	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice donor variant, non coding transcript variant, coding sequence variant, intron variant
rs1450676893	G>A	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, intron variant
rs1554293869	CGAGGGCGGAGTCCCTCACCTC>GA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554295159	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, stop gained
rs1554296088	->ATCTTCTC	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1554297097	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1562596651	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016937	hsa-miR-335-5p	Microarray	18185580
MIRT051289	hsa-miR-16-5p	CLASH	23622248
MIRT050026	hsa-miR-27a-3p	CLASH	23622248
MIRT046452	hsa-miR-15b-5p	CLASH	23622248
MIRT046230	hsa-miR-27b-3p	CLASH	23622248
MIRT041857	hsa-miR-484	CLASH	23622248
MIRT038295	hsa-miR-130b-5p	CLASH	23622248
MIRT823987	hsa-miR-1233	CLIP-seq
MIRT823988	hsa-miR-1587	CLIP-seq
MIRT823989	hsa-miR-186	CLIP-seq
MIRT823990	hsa-miR-224	CLIP-seq
MIRT823991	hsa-miR-3133	CLIP-seq
MIRT823992	hsa-miR-3135b	CLIP-seq
MIRT823993	hsa-miR-3167	CLIP-seq
MIRT823994	hsa-miR-3652	CLIP-seq
MIRT823995	hsa-miR-374c	CLIP-seq
MIRT823996	hsa-miR-378g	CLIP-seq
MIRT823997	hsa-miR-4283	CLIP-seq
MIRT823998	hsa-miR-4292	CLIP-seq
MIRT823999	hsa-miR-4318	CLIP-seq
MIRT824000	hsa-miR-4430	CLIP-seq
MIRT824001	hsa-miR-4489	CLIP-seq
MIRT824002	hsa-miR-4492	CLIP-seq
MIRT824003	hsa-miR-4498	CLIP-seq
MIRT824004	hsa-miR-4505	CLIP-seq
MIRT824005	hsa-miR-4648	CLIP-seq
MIRT824006	hsa-miR-4654	CLIP-seq
MIRT824007	hsa-miR-4656	CLIP-seq
MIRT824008	hsa-miR-4675	CLIP-seq
MIRT824009	hsa-miR-4729	CLIP-seq
MIRT824010	hsa-miR-4741	CLIP-seq
MIRT824011	hsa-miR-4769-5p	CLIP-seq
MIRT824012	hsa-miR-499-3p	CLIP-seq
MIRT824013	hsa-miR-499a-3p	CLIP-seq
MIRT824014	hsa-miR-548g	CLIP-seq
MIRT824015	hsa-miR-548u	CLIP-seq
MIRT824016	hsa-miR-655	CLIP-seq
MIRT824017	hsa-miR-762	CLIP-seq
MIRT824018	hsa-miR-876-5p	CLIP-seq
MIRT1545787	hsa-miR-133a	CLIP-seq
MIRT1545788	hsa-miR-133b	CLIP-seq
MIRT1545789	hsa-miR-3907	CLIP-seq
MIRT1545790	hsa-miR-4287	CLIP-seq
MIRT1545791	hsa-miR-4685-3p	CLIP-seq
MIRT1545792	hsa-miR-4780	CLIP-seq
MIRT1545793	hsa-miR-623	CLIP-seq
MIRT823990	hsa-miR-224	CLIP-seq
MIRT823995	hsa-miR-374c	CLIP-seq
MIRT824012	hsa-miR-499-3p	CLIP-seq
MIRT824013	hsa-miR-499a-3p	CLIP-seq
MIRT824016	hsa-miR-655	CLIP-seq
MIRT823990	hsa-miR-224	CLIP-seq
MIRT823993	hsa-miR-3167	CLIP-seq
MIRT823995	hsa-miR-374c	CLIP-seq
MIRT1545789	hsa-miR-3907	CLIP-seq
MIRT823999	hsa-miR-4318	CLIP-seq
MIRT824005	hsa-miR-4648	CLIP-seq
MIRT824006	hsa-miR-4654	CLIP-seq
MIRT824011	hsa-miR-4769-5p	CLIP-seq
MIRT824012	hsa-miR-499-3p	CLIP-seq
MIRT824013	hsa-miR-499a-3p	CLIP-seq
MIRT824014	hsa-miR-548g	CLIP-seq
MIRT824016	hsa-miR-655	CLIP-seq
MIRT824018	hsa-miR-876-5p	CLIP-seq
MIRT1545789	hsa-miR-3907	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	22977523
GO:0005515	Function	Protein binding	IPI	16452482, 22977523, 25631046, 25657994, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	39032489
GO:0005634	Component	Nucleus	IDA	16452482, 25631046
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	39032489
GO:0005737	Component	Cytoplasm	IDA	25631046
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	39032490
GO:0006006	Process	Glucose metabolic process	IMP	25070371
GO:0006915	Process	Apoptotic process	IMP	25070371
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	25631046
GO:0008283	Process	Cell population proliferation	IEA
GO:0008283	Process	Cell population proliferation	IMP	25070371
GO:0008428	Function	Ribonuclease inhibitor activity	IDA	39032489, 39032490
GO:0010212	Process	Response to ionizing radiation	IMP	16452482
GO:0016020	Component	Membrane	HDA	19946888
GO:0016477	Process	Cell migration	IMP	25070371
GO:0030307	Process	Positive regulation of cell growth	IMP	25070371
GO:0034504	Process	Protein localization to nucleus	IDA	39032489
GO:0051646	Process	Mitochondrion localization	IMP	25070371
GO:0160234	Process	Integrator complex assembly	IDA	39032489, 39032490

Other IDs

• MIM: 614506
• HGNC: 21701
• e!Ensembl: ENSG00000106009

Protein

• UniProt ID: Q6PJG6
• Protein name: Integrator complex assembly factor BRAT1 (BRCA1-associated ATM activator 1) (BRCA1-associated protein required for ATM activation protein 1)
• Protein function: Component of a multiprotein complex required for the assembly of the RNA endonuclease module of the integrator complex (PubMed:39032489, PubMed:39032490). Associates with INTS9 and INTS11 in the cytoplasm and blocks the active site of INTS11 to
• PDB: 4IFI, 8R22, 8R23, 8R2D, 8UIB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02985	HEAT	501 → 531	HEAT repeat	Repeat
  PF02985	HEAT	546 → 576	HEAT repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:16452482}.
• Sequence:

  MDPECAQLLPALCAVLVDPRQPVADDTCLEKLLDWFKTVTEGESSVVLLQEHPCLVELLS
  HVLKVQDLSSGVLSFSLRLAGTFAAQENCFQYLQQGELLPGLFGEPGPLGRATWAVPTVR
  SGWIQGLRSLAQHPSALRFLADHGAVDTIFSLQGDSSLFVASAASQLLVHVLALSMRGGA
  EGQPCLPGGDWPACAQKIMDHVEESLCSAATPKVTQALNVLTTTFGRCQSPWTEALWVRL
  SPRVACLLERDPIPAAHSFVDLLLCVARSPVFSSSDGSLWETVARALSCLGPTHMGPLAL
  GILKLEHCPQALRTQAFQVLLQPLACVLKATVQAPGPPGLLDGTADDATTVDTLLASKSS
  CAGLLCRTLAHLEELQPLPQRPSPWPQASLLGATVTVLRLCDGSAAPASSVGGHLCGTLA
  GCVRVQRAALDFLGTLSQGTGPQELVTQALAVLLECLESPGSSPTVLKKAFQATLRWLLS
  SPKTPGCSDLGPLIPQFLRELFPVLQKRLCHPCWEVRDSALEFLTQLSRHWGGQADFRCA
  LLASEVPQLALQLLQDPESYVRASAVTAMGQLSSQGLHAPTSPEHAEARQSLFLELLHIL
  SVDSEGFPRRAVMQVFTEWLRDGHADAAQDTEQFVATVLQAASRDLDWEVRAQGLELALV
  FLGQTLGPPRTHCPYAVALPEVAPAQPLTEALRALCHVGLFDFAFCALFDCDRPVAQKSC
  DLLLFLRDKIASYSSLREARGSPNTASAEATLPRWRAGEQAQPPGDQEPEAVLAMLRSLD
  LEGLRSTLAESSDHVEKSPQSLLQDMLATGGFLQGDEADCY

• Sequence length: 821

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
BRAT1-associated neurodegenerative disorder	Likely pathogenic; Pathogenic	rs763527391	RCV001265553	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRAT1-related disorder	Likely pathogenic; Pathogenic	rs727505362, rs776913277, rs776341501, rs149814450, rs763527391, rs730880324, rs1463777746	RCV004531196 RCV004739648 RCV004545850 RCV003397184 RCV004530515 RCV004545733 RCV004538132	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BRAT1-related neurodevelopmental disorder	Likely pathogenic	rs754828716	RCV003225688	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal-onset encephalopathy with rigidity and seizures	Pathogenic; Likely pathogenic	rs762469913, rs2128384059, rs1778893542, rs746081291, rs727505362, rs1335347265, rs2128390167, rs1188555703, rs1780257580, rs755075934, rs2128393384, rs2128395588, rs1562567814, rs1778838576, rs1554296088, rs727505363, rs727505364, rs727505365, rs2534411900, rs1238539931, rs1384976053, rs1372330259, rs147005619, rs2534391979, rs794729222, rs2534448374, rs2534380464, rs2534363105, rs2534285722, rs2534285386, rs1470556890, rs906327946, rs2534317013, rs2534319250, rs776913277, rs1372864059, rs149814450, rs766106194, rs775115309, rs2534414706, rs961988900, rs1778960981, rs2534344262, rs2534352979, rs2534286887, rs1780259380, rs2534355921, rs2534318515, rs1418921410, rs2534345446, rs763527391, rs730880324, rs773772842, rs1085307958, rs1131691679, rs1554295159, rs200502048, rs749240175, rs1554293869, rs1554297097, rs1562596651, rs1463777746, rs759216914, rs754341393, rs1224820591, rs756489141, rs1779001773, rs760389988, rs1779105755, rs1778987915, rs1778980785, rs201855243, rs761081587	RCV001333591 RCV001385214 RCV001388478 RCV001383083 RCV001386843 RCV001868864 RCV001988737 RCV001876793 RCV001908610 RCV001994507 RCV001994858 RCV001956427 RCV001912246 RCV001956561 RCV000156935 RCV000156936 RCV000156937 RCV000156938 RCV002468793 RCV002615323 RCV002619569 RCV002611764 RCV002583796 RCV002635971 RCV000184043 RCV002725254 RCV002819723 RCV002846920 RCV002871799 RCV003001925 RCV003046452 RCV003030114 RCV003042502 RCV003036403 RCV000500824 RCV003314382 RCV003645362 RCV003447871 RCV003645392 RCV003645434 RCV003645523 RCV003645515 RCV003645629 RCV003644520 RCV003644542 RCV003644567 RCV003644563 RCV003837297 RCV003842657 RCV003847648 RCV000528948 RCV000024198 RCV001856909 RCV000677133 RCV000656414 RCV000499602 RCV000534851 RCV000556965 RCV000650119 RCV000677131 RCV000695628 RCV000824232 RCV000819099 RCV000802074 RCV000810233 RCV001237971 RCV001052109 RCV001045207 RCV001052067 RCV001260917 RCV001215134 RCV001245238 RCV004796402	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	Likely pathogenic; Pathogenic	rs727505362, rs2128399475, rs1388240091, rs1372330259, rs869312931, rs776913277, rs2534412600, rs1359088166, rs2534312390, rs763527391, rs730880324, rs1085307958, rs200502048, rs749240175, rs1778980785, rs761081587	RCV003314690 RCV002267562 RCV002471889 RCV004801287 RCV000677130 RCV000677129 RCV003459942 RCV003988361 RCV004560447 RCV003492035 RCV000677127 RCV000677132 RCV000677134 RCV002466533 RCV003225742 RCV004796402	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Pathogenic	rs2128386131	RCV001526582	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LETHAL NEONATAL SPASTICITY, EPILEPTIC ENCEPHALOPATHY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Apnea	Apnea	Pubtator	33040300	Associate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	28635423, 35360849	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	35360849	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	26947546	Associate	★☆☆☆☆ Found in Text Mining only
Bradycardia	Bradycardia	Pubtator	33040300	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26947546, 29997391, 30786674, 33040300, 36599696	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	30786674	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	28635423	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	28635423		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	28635423, 33040300, 35360849	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	23035047		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28635423, 33040300	Associate	★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16452482, 22279524, 23035047, 26494257, 26535877, 27282546, 27282648, 27480663, 28635423		★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	25319849		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	26535877, 26947546		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26535877		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34153113	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	27282648		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	Pubtator	28635423	Associate	★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	33040300	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28635423		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	28635423, 35360849	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lethal neonatal spasticity-epileptic encephalopathy syndrome	Lethal Spasticity-Epileptic Encephalopathy Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25070371		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	25319849, 26494257, 27480663		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	28635423, 30786674, 31868227, 35360849	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	35360849, 36028512	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26483087, 27480663		★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	UNIPROT_DG	26483087, 26494257, 27282546		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	28635423	Associate	★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	33040300	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	28635423		★☆☆☆☆ Found in Text Mining only
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL	Rigidity And Multifocal Seizure Syndrome	GENOMICS_ENGLAND_DG	22279524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL	Rigidity And Multifocal Seizure Syndrome	UNIPROT_DG	22279524, 27282546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL	Rigidity And Multifocal Seizure Syndrome	CLINVAR_DG	22279524, 23035047, 25500575, 26483087, 26494257, 26535877, 26947546, 27282546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL	Rigidity And Multifocal Seizure Syndrome	BEFREE	23035047, 25319849, 26494257, 26947546, 27282546, 27480663, 28635423, 30346566		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL	Rigidity And Multifocal Seizure Syndrome	ORPHANET_DG	25500575		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	26947546, 28635423, 30786674, 31618474, 31868227, 33040300	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	28635423	Associate	★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	25319849		★☆☆☆☆ Found in Text Mining only