Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	340533
Gene name	Neurite extension and migration factor
Gene symbol	NEXMIF
Synonyms (NCBI Gene)	KIAA2022KIDLIAMRX98XLID98XPN
Chromosome	X
Chromosome location	Xq13.3
Summary	An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked cognitive disability.[provided by RefSeq, Mar 2009]

Show/Hide all (57)

SNP ID	Visualize variation	Clinical significance	Consequence
rs186535459	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199960807	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs397518478	->T	Pathogenic	Frameshift variant, coding sequence variant
rs397518479	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs727503977	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs758719615	G>A,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs786205208	G>A	Pathogenic	Stop gained, coding sequence variant
rs797045646	->GAAA	Pathogenic	Frameshift variant, coding sequence variant
rs875989829	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs878854418	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs878854419	GATATCATCATCGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs878854423	->G	Pathogenic	Frameshift variant, coding sequence variant
rs878854425	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041427	->TTTAAATTTGATTTTATTGAGCACTTTCCTCTCT	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs886041570	CCAGCAGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041701	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041774	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041971	G>A	Pathogenic	Stop gained, coding sequence variant
rs886042023	G>T	Pathogenic	Stop gained, coding sequence variant
rs886042158	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518728	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1057518730	CA>-	Pathogenic	Coding sequence variant, stop gained
rs1060499652	G>T	Pathogenic	Coding sequence variant, stop gained
rs1064796882	G>A	Pathogenic	Coding sequence variant, stop gained
rs1556016224	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1556016292	ACCTTTGAGGGATTTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016350	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016352	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016381	ACTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016438	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016529	TTA>GT	Pathogenic	Frameshift variant, coding sequence variant
rs1556016555	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016632	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016642	CTCTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016723	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1556016724	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556016731	G>A	Pathogenic	Stop gained, coding sequence variant
rs1556016735	A>C	Pathogenic	Stop gained, coding sequence variant
rs1556016802	G>T	Pathogenic	Stop gained, coding sequence variant
rs1569334937	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569335056	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569335135	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569335235	G>T	Pathogenic	Coding sequence variant, stop gained
rs1569335265	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569335485	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569335666	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1569335738	C>A	Pathogenic	Coding sequence variant, stop gained
rs1569335877	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569335893	C>A	Pathogenic	Coding sequence variant, stop gained
rs1569336024	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1602210960	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602211044	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1602211123	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1602211753	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602211981	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1602212618	ACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602212778	TAGAT>-	Pathogenic	Coding sequence variant, frameshift variant

108

Show/Hide all (108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT522849	hsa-miR-3133	HITS-CLIP	21572407
MIRT522848	hsa-miR-8485	HITS-CLIP	21572407
MIRT522847	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT522846	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT522845	hsa-miR-603	HITS-CLIP	21572407
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT522844	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT522843	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT522842	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT522841	hsa-miR-3941	HITS-CLIP	21572407
MIRT522840	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT522839	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT522838	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT522837	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT522847	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT522846	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT522845	hsa-miR-603	HITS-CLIP	23824327
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT522844	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT522841	hsa-miR-3941	HITS-CLIP	23824327
MIRT522840	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT522847	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT522846	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT522845	hsa-miR-603	HITS-CLIP	23824327
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT522844	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT522841	hsa-miR-3941	HITS-CLIP	23824327
MIRT522840	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT632802	hsa-miR-4323	HITS-CLIP	23824327
MIRT632801	hsa-miR-3943	HITS-CLIP	23824327
MIRT632800	hsa-miR-6769a-3p	HITS-CLIP	23824327
MIRT630970	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT630969	hsa-miR-1470	HITS-CLIP	23824327
MIRT630968	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT632799	hsa-miR-600	HITS-CLIP	23824327
MIRT632798	hsa-miR-4672	HITS-CLIP	23824327
MIRT632797	hsa-miR-466	HITS-CLIP	23824327
MIRT630967	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT522845	hsa-miR-603	HITS-CLIP	23824327
MIRT630970	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT630969	hsa-miR-1470	HITS-CLIP	23824327
MIRT630968	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT630967	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT522848	hsa-miR-8485	HITS-CLIP	23824327
MIRT379771	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT522849	hsa-miR-3133	PAR-CLIP	21572407
MIRT522848	hsa-miR-8485	PAR-CLIP	21572407
MIRT522847	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT522846	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT522845	hsa-miR-603	PAR-CLIP	21572407
MIRT379771	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT522844	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT522843	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT522842	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT522841	hsa-miR-3941	PAR-CLIP	21572407
MIRT522840	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT522839	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT522838	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT522837	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT522848	hsa-miR-8485	PAR-CLIP	21572407
MIRT522847	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT522846	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT522845	hsa-miR-603	PAR-CLIP	21572407
MIRT379771	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT522844	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT522841	hsa-miR-3941	PAR-CLIP	21572407
MIRT522840	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT522839	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT522848	hsa-miR-8485	PAR-CLIP	21572407
MIRT522847	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT522846	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT522845	hsa-miR-603	PAR-CLIP	21572407
MIRT379771	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT522844	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT522843	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT522842	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT522841	hsa-miR-3941	PAR-CLIP	21572407
MIRT522840	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT522839	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT522838	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT522837	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT522849	hsa-miR-3133	PAR-CLIP	23446348
MIRT522848	hsa-miR-8485	PAR-CLIP	23446348
MIRT522847	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT522846	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT522845	hsa-miR-603	PAR-CLIP	23446348
MIRT379771	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT522844	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT522843	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT522842	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT522841	hsa-miR-3941	PAR-CLIP	23446348
MIRT522840	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT522839	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT522838	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT522837	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT440376	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT440376	hsa-miR-382-5p	HITS-CLIP	24374217

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence
GO:0001953	Process	Negative regulation of cell-matrix adhesion	IBA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0007399	Process	Nervous system development	IEA
GO:0030496	Component	Midbody	IDA
GO:0033629	Process	Negative regulation of cell adhesion mediated by integrin	IBA
GO:2000048	Process	Negative regulation of cell-cell adhesion mediated by cadherin	IBA
GO:2001223	Process	Negative regulation of neuron migration	IBA

MIM	HGNC	e!Ensembl
300524	29433	ENSG00000050030

Q5QGS0

Protein name

Neurite extension and migration factor (XLMR protein related to neurite extension) (XPN)

Protein function

Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15735	DUF4683	284 → 690	Domain of unknown function (DUF4683)	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in fetal and adult brain, predominantly in the cerebral cortex and the cerebellum. Also expressed in other tissues but to a lesser extent. {ECO:0000269|PubMed:15466006}.

Sequence

MDNQQDKAIVASANGENTLINGVKENDSEDQDVAMKSFAALEAAAPIQPTPVAQKETLMY
PRGLLPLPSKKPCMQSPPSPLGLIEAPEHAANSASVNAISLTSGIAKGLNTWSLPNECEK
APFAIMEPAGMSALNGDCLMQPSRTCLGCFMESKDAVDPEPGISLKVGDLNRDYETCAVS
DIGIQCINAGENMKYGEQLLSDQLLGFPLHKSRAGDRRETEKPDIDLEDPAQKSYYEALL
LDKCNTEEALLANSNQDWGYFETFISESKIELLDLCSKNELSVNLFSEEDVDNYMFDDDE
STLGSDVCSLKIRYESFQDNVRDKTTLLMQEDAQFNFFPSVFTTCPKRESKSGALKQSSD
FSQFKVPDVSIIWGEEDKNLDKKKGKEEGQEDKGVEKKDGKDNGEKPALNKPCSGTEVEQ
LKNPKQGHLANSLETSGSFSDDSSFIEISYDAMGEIKDCSRYMARDTNSGSSSSQQNYGL
RAKRKVRYSEDYLYDVDSLEGEKVNERKEWLPVGSKEEDDDEWCPKKRRKVTRKEPPVII
KYIIINRFKGEKNMLVKLGKVDASETTVNLSENQLNKYAKLAPLKGFWQKKKKQRNTNTD
SIKTPFSQKQSFEPGSFEVSFLPPARKRKSKLGNRHRIQRIPSIEISASSKQISLCNDQR
HASNHKEDGGLKGTLKSAPLGAPSCANGSHLNDITGPDSVKVKAQDTEFKGPERKVLNKI
KFKSEARLKSKKVKAAGQESKPIVQMSPLLENQSSKANLKNEVIPGTSNSSRLSEFHEAK
AAKSSTFLPTTCSSEMPLSSANVTTNIPVIPGGYLQTLLDASDLSNNTSISYFSHHSPEQ
NEGSLTQTEKSFVPLQPTQDCVLTSSSDSELQQSSHNFKMESSNYRNVWPNKATSGTQEF
MAEVSREIAPTQSSEFGASQVVSMENNLTPTTYNPICLNSGGSNCNKVLYDSMQDTQLPS
DDSYQLCHFNNGEICFPFQQGPVNMDDGRLFSFDSMAPLSVSSSNYCSLSLKSCEKDGDD
DITDDFLAHCSPKLVIQQSIDEIAPLKESTDLLDISNFTPDKFRHSSLSEMSPPDTPSLS
PQITRCESMKTLGTLKGFQEGVPGPLDSVEKIKWDCSTLSRQVQMEDGFTLNNHQFQFHM
FNDEDSVSLLQKNPCLSTFNDPSGQISTNNKVSKSRKKSSPSKSGAMNQSSSQKNTRKKS
LKGNNKGIEKPPGKNSRQVPKSTKKGKYMAAINGEKMQIGIGRGGSQTNTISSTGKTLAE
CIQHGGPMASMKMPSQKGLSGDWALGKESSPGWSDMSMGTNTNSLLDDDQREFQEPSYIL
SNIASGMADVQRFMMASIEPLWEPMEHHGDPNIFYSPESNSLKLKTLKILAGTPQESKKK
INSGSQGATKNHRSIKGVSKSNGKTAIGDPGRANMPGYNEDSRSTFFDKKYSNMSTLGNN
GPTHKKLYRHKSSSKALRDEKCKGKHMEREQVHKDESGTASFEKLRDSDYNLLKAETTFW
VLPVFEEETRIFQKDI

Sequence length

1516

Interactions

View interactions

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)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Continuous spike and waves during slow sleep	Pathogenic	rs758719615	RCV001848017	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs2147441502, rs2080116462, rs778917289, rs2080105463, rs2080112105, rs2080113099	RCV001843834 RCV004798895 RCV001257586 RCV001257590 RCV001257589 RCV001257588 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2519914975	RCV004018270	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEXMIF-related disorder	Pathogenic; Likely pathogenic	rs2519912719, rs2519916427	RCV003402425 RCV003404393	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs786205208, rs2080102842	RCV005624335 RCV005624451	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2147439516, rs1569335738	RCV005924246 RCV005897328	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked intellectual disability, Cantagrel type	Likely pathogenic; Pathogenic	rs2080101583, rs2080114203, rs2080115999, rs2147440717, rs2147442619, rs2080101717, rs2147439499, rs2147440006, rs1181632862, rs2147441408, rs2147439567, rs2147439375, rs2147439364, rs2147439880, rs2080104580 View all (41 more)	RCV001332646 RCV001335522 RCV001335526 RCV001706904 RCV001724783 View all (51 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ 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; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY CANTAGREL TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (51)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amenorrhea	Amenorrhea	Pubtator	25747126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	27396555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	27396555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	33144681	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23615299, 29717186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	BEFREE	26576034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	28846756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Continuous spike and waves during slow sleep	Continuous spike and waves during slow sleep	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental Disabilities	Developmental disability	Pubtator	27568816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	27396555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	26576034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15466006, 19524067, 22531377, 23352160, 23615299, 24307393, 25900396, 26290131, 26576034, 27358180, 27568816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	29717186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	27358180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	25900396, 27358180, 27568816		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	27358180, 27568816, 28846756, 33144681	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ 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
Hypersensitivity Delayed	Hypersensitivity	Pubtator	27568816	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	15466006, 23615299, 25900396, 26290131, 26576034, 27358180, 27568816, 29693785, 29717186, 31704787		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	15466006, 23871722, 27358180, 27568816, 28846756, 33144681	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	27568816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	28846756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	23615299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	15466006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	15466006		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 98	Mental Retardation, X-Linked	CLINVAR_DG	15466006, 23615299, 24307393, 27358180		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 98	Mental Retardation, X-Linked	ORPHANET_DG	23615299		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 98	Mental Retardation, X-Linked	GENOMICS_ENGLAND_DG	25529582, 27358180		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 98	Mental Retardation, X-Linked	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31704787		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peritonitis	Peritonitis	Pubtator	27270314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	23615299, 29717186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33144681	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	23615299, 25900396		★★★★★ ★☆☆☆☆ 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
Stomach Neoplasms	Stomach neoplasms	Pubtator	27270314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked intellectual disability, Cantagrel type	Mental Retardation, X-Linked	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

NEXMIF (neurite extension and migration factor)