WDR45 (WD repeat domain 45)

Gene

• Entrez ID: 11152
• Gene name: WD repeat domain 45
• Gene symbol: WDR45
• Synonyms (NCBI Gene): JM5, NBIA4, NBIA5, WDRX1, WIPI-4, WIPI4
• Chromosome: X
• Chromosome location: Xp11.23
• Summary: This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201177026	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs387907331	->T	Pathogenic	Frameshift variant, coding sequence variant
rs797046101	G>A	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs864309661	CCA>-	Uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant
rs886041382	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057519622	AC>-	Pathogenic	Splice donor variant, intron variant
rs1057521933	C>T	Likely-pathogenic	Intron variant
rs1064794744	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1557084239	->A	Pathogenic	Stop gained, coding sequence variant
rs1557084310	T>A	Pathogenic	Stop gained, coding sequence variant
rs1557084491	T>C	Likely-pathogenic	Splice acceptor variant
rs1557084549	G>A	Pathogenic	Stop gained, coding sequence variant
rs1569523502	TCAAAC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1569523537	->ACTA	Pathogenic	Coding sequence variant, stop gained
rs1569523544	CCTGCTCGTGGTCTGGACAGGGACCA>-	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1569523562	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569523565	A>T	Likely-pathogenic	Initiator codon variant, missense variant
rs1602539140	T>G	Pathogenic	Splice acceptor variant
rs1602539322	T>G	Likely-pathogenic	Intron variant
rs1602540060	G>C	Likely-pathogenic	Intron variant
rs1602540211	A>C	Pathogenic	Splice donor variant
rs1602540235	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602540295	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1602540331	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1602540581	TGGCGCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602540595	T>C	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025809	hsa-miR-7-5p	Microarray	19073608
MIRT1490696	hsa-miR-1343	CLIP-seq
MIRT1490697	hsa-miR-193a-5p	CLIP-seq
MIRT1490698	hsa-miR-3667-3p	CLIP-seq
MIRT1490699	hsa-miR-3936	CLIP-seq
MIRT1490700	hsa-miR-4297	CLIP-seq
MIRT1490701	hsa-miR-639	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IMP	28561066
GO:0000407	Component	Phagophore assembly site	IDA	28561066
GO:0000407	Component	Phagophore assembly site	IEA
GO:0000422	Process	Autophagy of mitochondrion	IBA
GO:0000425	Process	Pexophagy	IBA
GO:0005515	Function	Protein binding	IPI	20562859, 28561066, 31412244, 33961781, 34524948, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0006914	Process	Autophagy	IEA
GO:0006914	Process	Autophagy	IMP	23435086
GO:0008289	Function	Lipid binding	IEA
GO:0009267	Process	Cellular response to starvation	IDA	28561066
GO:0019901	Function	Protein kinase binding	IPI	28561066
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IBA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IDA	31271352
GO:0034045	Component	Phagophore assembly site membrane	IBA
GO:0034497	Process	Protein localization to phagophore assembly site	IBA
GO:0044804	Process	Nucleophagy	IBA
GO:0061723	Process	Glycophagy	IBA
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IBA
GO:1901981	Function	Phosphatidylinositol phosphate binding	IDA	28561066
GO:2000786	Process	Positive regulation of autophagosome assembly	IDA	31271352

Other IDs

• MIM: 300526
• HGNC: 28912
• e!Ensembl: ENSG00000196998

Protein

• UniProt ID: Q9Y484
• Protein name: WD repeat domain phosphoinositide-interacting protein 4 (WIPI-4) (WD repeat-containing protein 45)
• Protein function: Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:23435086, PubMed:28561066). Binds p
• PDB: 8KBX, 8KC3, 8Y1L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	226 → 264	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed, with high expression in skeletal muscle and heart. Weakly expressed in liver and placenta. Expression is down-regulated in pancreatic and in kidney tumors. {ECO:0000269|PubMed:15602573}.
• Sequence:

  MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDHEQVGSMGLVEMLHRS
  NLLALVGGGSSPKFSEISVLIWDDAREGKDSKEKLVLEFTFTKPVLSVRMRHDKIVIVLK
  NRIYVYSFPDNPRKLFEFDTRDNPKGLCDLCPSLEKQLLVFPGHKCGSLQLVDLASTKPG
  TSSAPFTINAHQSDIACVSLNQPGTVVASASQKGTLIRLFDTQSKEKLVELRRGTDPATL
  YCINFSHDSSFLCASSDKGTVHIFALKDTRLNRRSALARVGKVGPMIGQYVDSQWSLASF
  TVPAESACICAFGRNTSKNVNSVIAICVDGTFHKYVFTPDGNCNREAFDVYLDICDDDDF
  

• Sequence length: 360

Pathways

KEGG:

Autophagy - animal

Reactome:

Macroautophagy

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	Likely pathogenic	rs1602540235	RCV001004010	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Basal ganglia calcification	Pathogenic	rs1602540581	RCV001004011	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Pathogenic	rs2520266090	RCV003127353	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonic disorder	Pathogenic	rs1602540581	RCV001004011	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic; Likely pathogenic	rs886041382, rs1602540235, rs2520266854	RCV001255400 RCV001004010 RCV001255399	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs2065030871, rs781998959	RCV001255354 RCV001260892	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration with brain iron accumulation	Pathogenic	rs1557083958	RCV000845069	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration with brain iron accumulation 5	Likely pathogenic; Pathogenic	rs2065027151, rs2147815209, rs2147814810, rs2147815120, rs2147816498, rs2147817379, rs2147817417, rs2147815172, rs2147815446, rs2147814944, rs2147814859, rs2147816332, rs2147814431, rs2147817625, rs2147816654, rs2147814875, rs2147816288, rs2147815304, rs2147817628, rs2147817681, rs1569523565, rs2520260876, rs2520262195, rs2520260289, rs2520266877, rs797046100, rs797046105, rs797046103, rs797046102, rs797046101, rs2520260205, rs2520259073, rs2520260202, rs2520260298, rs1557083956, rs869312661, rs2520261481, rs2520264151, rs886041693, rs2520260272, rs878855326, rs1557083958, rs886041994, rs886041382, rs886041381, rs2520262051, rs2520262143, rs2520261558, rs2520261432, rs2520266230, rs2520266117, rs2520266797, rs2065045729, rs2520260230, rs2520262174, rs2520261521, rs2520262076, rs2520261407, rs2520260012, rs2520263635, rs2520266084, rs2520261283, rs1057519622, rs1064793294, rs1131691592, rs1557083878, rs1557084113, rs1557084066, rs387907328, rs387907329, rs387907330, rs387907331, rs387907332, rs1557084120, rs1557083830, rs1557084491, rs1557084239, rs782557596, rs1569523537, rs1569523502, rs1569523468, rs1569523562, rs1602539322, rs1602537159, rs781972464, rs781978699, rs1602538385, rs1602540595, rs1602538148, rs1602538372, rs1602539140, rs1602538379, rs1602538023, rs1602540211, rs1602540331, rs1602540060, rs1602540295, rs2065026878, rs2065034268, rs2065045334, rs2065045650, rs2065032149, rs2065045269, rs2065032591, rs2065026848, rs2065048388, rs2065032542, rs2065033946, rs2065029414, rs2065030871, rs1197831794, rs2065038463	RCV001323126 RCV001378504 RCV001389746 RCV001385179 RCV001382098 RCV001387145 RCV001389596 RCV001542248 RCV001775306 RCV001784033 RCV001799571 RCV003738102 RCV001889113 RCV001973305 RCV002003820 RCV001882116 RCV001986444 RCV002024856 RCV002246817 RCV002246818 RCV002272799 RCV002288379 RCV002290225 RCV003064720 RCV003084933 RCV002810424 RCV000195088 RCV000194492 RCV000195151 RCV000194153 RCV000477948 RCV002903472 RCV003002506 RCV003025183 RCV003049749 RCV003036874 RCV000209935 RCV003134786 RCV003149136 RCV003326676 RCV003152840 RCV003153196 RCV000234791 RCV000578469 RCV001388846 RCV000705613 RCV005090332 RCV000850623 RCV003311579 RCV003322679 RCV003387493 RCV003572867 RCV003572959 RCV003573565 RCV003576090 RCV003735129 RCV003735150 RCV003735155 RCV003735160 RCV003735189 RCV003735260 RCV003735329 RCV003735366 RCV003735378 RCV003985185 RCV000417260 RCV001242357 RCV000554794 RCV000538621 RCV000578356 RCV000578306 RCV002248813 RCV000034828 RCV000034829 RCV000034830 RCV000034831 RCV000034832 RCV001809706 RCV000627053 RCV000650354 RCV000650353 RCV000689103 RCV000735636 RCV000695691 RCV000687313 RCV000692175 RCV000714536 RCV000760207 RCV001194319 RCV000787276 RCV000797757 RCV000820924 RCV000792874 RCV000791938 RCV000804443 RCV000816156 RCV000825010 RCV000850624 RCV000986092 RCV000990817 RCV000990818 RCV000990819 RCV000990820 RCV003890154 RCV001004757 RCV001054071 RCV001052729 RCV001062938 RCV001042261 RCV003128264 RCV001214756 RCV001197735 RCV001214992 RCV001218190 RCV001204597 RCV001210870 RCV001235930 RCV001252632 RCV001253570 RCV001253381 RCV001253656 RCV001254141	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 7	Pathogenic	rs886041382	RCV003883145	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy 2	Likely pathogenic	rs2520264339, rs2520266803	RCV003147747 RCV003147748	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs1064793294, rs1602540235	RCV005624402 RCV001004010	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
WDR45-related disorder	Pathogenic	rs1557083878, rs2520261696	RCV003402408 RCV003410586	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked cerebral-cerebellar-coloboma syndrome syndrome	Likely pathogenic; Pathogenic	rs797046101, rs1569523544	RCV000679876 RCV000679878	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET X-LINKED OPTIC ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROSS MOTOR DEVELOPMENT DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HALLERVORDEN-SPATZ SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE, DIASTOLIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIPLEGIC MIGRAINE, FAMILIAL TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine, familial hemiplegic, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEST SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED CEREBRAL, CEREBELLAR, COLOBOMA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	29322350	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29075622		★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	39970510	Associate	★☆☆☆☆ Found in Text Mining only
Beta-propeller protein-associated neurodegeneration	Beta-Propeller Protein-Associated Neurodegeneration	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain atrophy	Brain atrophy	BEFREE	28711740		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26173968	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26208877	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	28711740		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34818117	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26208877		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	23176820, 23687123	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	26790960, 30204590		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	32387008	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	23176820, 23687123, 32387008, 33037762, 34818117, 36350923	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	20562859, 23176820, 23435086, 23687123, 24621584, 24847269, 25263061, 25592411, 26173968, 28932395		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	23176820, 23687123, 29082105, 36076926	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	23757263, 26096995		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	25592411, 26173968, 28711740, 29171013		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26208877		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26208877	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28711740, 29981852, 30204590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	32387008, 33037762, 39970510	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	26173968, 26790960, 27030146		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	29171013, 34818117	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26609730, 26790960, 28711740, 29681108, 29981852, 31536831		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gross motor development delay	Developmental delay	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Retardation Developmental Delay Coarse Facies And Early Death	Growth retardation, developmental delay, coarse facies, and early death	Pubtator	39970510	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure, Diastolic	Heart Failure	CTD_human_DG	29556499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	34769084	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26096995		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	28551038		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Infantile spasms syndrome	Spasms Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24142851, 25263061, 25744623		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	26577041, 27159028, 29082105, 33037762, 33636118	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Iron Overload	Iron Overload	BEFREE	30169597		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	30169597, 34769084	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30169597, 34769084	Associate	★☆☆☆☆ Found in Text Mining only
Motor Skills Disorders	Motor skills disorder	Pubtator	32387008	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	20562859, 23176820, 23435086, 23687123, 24621584, 24847269, 25263061, 25592411, 26173968, 28932395		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	20562859, 23176820, 23435086, 23687123, 24621584, 24847269, 25263061, 25592411, 26173968, 28932395		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	23176820	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29981852		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	34837396	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	23176820, 23687123, 24142851, 25592411, 25744623, 25870938, 26096995, 26173968, 26609730, 26790960, 28643035, 28711740, 29681108, 31536831		★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	CTD_human_DG	23435086		★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5	Neurodegeneration With Brain Iron Accumulation	GENOMICS_ENGLAND_DG	22892189, 23176820, 23435086, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5	Neurodegeneration With Brain Iron Accumulation	CLINVAR_DG	23176820, 23435086, 23687123, 24368176, 24621584, 25744623, 28711740, 28932395, 29171013, 29981852, 30612247		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5	Neurodegeneration With Brain Iron Accumulation	BEFREE	23435086, 23687123, 24368176, 25044655, 25263061, 25301227, 25744623, 26123052, 26240209, 26481852, 26577041, 26859818, 27030146, 28261264, 28551038, 28643035, 28711740, 29171013, 29681108, 30204590, 30612247, 31204559, 31332960, 31505688, 31525124, 31536831, 31632858		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5	Neurodegeneration With Brain Iron Accumulation	ORPHANET_DG	23435086		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5	Neurodegeneration With Brain Iron Accumulation	UNIPROT_DG	23435086, 25356899, 25592411		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5	Neurodegeneration With Brain Iron Accumulation	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	23687123, 26173968, 29082105, 30169597, 32387008, 34769084, 34818117, 34837396, 36502619	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26096995, 30204590, 31332960		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889, 29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	23176820, 23687123, 29082105, 32387008, 36076926	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	26790960		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	26790960, 30204590		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	24621584, 29322350		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	29322350	Associate	★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	BEFREE	26609730		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	26577041, 29171013, 32387008	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	29082105	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	28561066		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	27030146, 28551038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West Syndrome	West Syndrome	ORPHANET_DG	27030146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked cerebral, cerebellar, coloboma syndrome	Cerebral, Cerebellar, Coloboma Syndrome, X-Linked	CLINVAR_DG	23176820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations