NDE1 (nudE neurodevelopment protein 1)

Gene

• Entrez ID: 54820
• Gene name: NudE neurodevelopment protein 1
• Gene symbol: NDE1
• Synonyms (NCBI Gene): HOM-TES-87, LIS4, MHAC, NDE, NUDE, NUDE1
• Chromosome: 16
• Chromosome location: 16p13.11
• Summary: This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This pr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs147174812	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs398123577	G>A	Pathogenic	Splice acceptor variant
rs576928842	C>A,G,T	Pathogenic	Missense variant, synonymous variant, stop gained, coding sequence variant
rs749768828	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs756206942	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs757604577	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant, missense variant
rs794727491	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant, initiator codon variant
rs1456594953	G>T	Pathogenic	Genic upstream transcript variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022760	hsa-miR-124-3p	Microarray	18668037
MIRT024682	hsa-miR-215-5p	Microarray	19074876
MIRT026541	hsa-miR-192-5p	Microarray	19074876
MIRT028581	hsa-miR-30a-5p	Proteomics	18668040
MIRT050211	hsa-miR-25-3p	CLASH	23622248
MIRT048631	hsa-miR-99a-5p	CLASH	23622248
MIRT048448	hsa-miR-100-5p	CLASH	23622248
MIRT047227	hsa-miR-181b-5p	CLASH	23622248
MIRT043877	hsa-miR-378a-3p	CLASH	23622248
MIRT043599	hsa-miR-151a-3p	CLASH	23622248
MIRT042463	hsa-miR-423-3p	CLASH	23622248
MIRT039461	hsa-miR-652-3p	CLASH	23622248
MIRT039149	hsa-miR-769-5p	CLASH	23622248
MIRT038356	hsa-miR-296-3p	CLASH	23622248
MIRT038035	hsa-miR-423-5p	CLASH	23622248
MIRT037795	hsa-miR-92b-5p	CLASH	23622248
MIRT037412	hsa-miR-744-5p	CLASH	23622248
MIRT037212	hsa-miR-877-5p	CLASH	23622248
MIRT052813	hsa-miR-3196	CLASH	23622248
MIRT1177863	hsa-miR-1261	CLIP-seq
MIRT1177864	hsa-miR-129-5p	CLIP-seq
MIRT1177865	hsa-miR-147	CLIP-seq
MIRT1177866	hsa-miR-204	CLIP-seq
MIRT1177867	hsa-miR-211	CLIP-seq
MIRT1177868	hsa-miR-2113	CLIP-seq
MIRT1177869	hsa-miR-3173-3p	CLIP-seq
MIRT1177870	hsa-miR-361-5p	CLIP-seq
MIRT1177871	hsa-miR-4428	CLIP-seq
MIRT1177872	hsa-miR-4521	CLIP-seq
MIRT1177873	hsa-miR-4755-5p	CLIP-seq
MIRT1177874	hsa-miR-490-5p	CLIP-seq
MIRT1177875	hsa-miR-498	CLIP-seq
MIRT1177876	hsa-miR-599	CLIP-seq
MIRT1177877	hsa-miR-623	CLIP-seq
MIRT1177878	hsa-miR-759	CLIP-seq
MIRT1177879	hsa-miR-1296	CLIP-seq
MIRT1177880	hsa-miR-140-3p	CLIP-seq
MIRT1177881	hsa-miR-2116	CLIP-seq
MIRT1177882	hsa-miR-3170	CLIP-seq
MIRT1177883	hsa-miR-3671	CLIP-seq
MIRT1177884	hsa-miR-4260	CLIP-seq
MIRT1177885	hsa-miR-4283	CLIP-seq
MIRT1177886	hsa-miR-4300	CLIP-seq
MIRT1177887	hsa-miR-4437	CLIP-seq
MIRT1177888	hsa-miR-4443	CLIP-seq
MIRT1177889	hsa-miR-4481	CLIP-seq
MIRT1177890	hsa-miR-4489	CLIP-seq
MIRT1177891	hsa-miR-4512	CLIP-seq
MIRT1177892	hsa-miR-4716-3p	CLIP-seq
MIRT1177893	hsa-miR-4723-5p	CLIP-seq
MIRT1177894	hsa-miR-4745-5p	CLIP-seq
MIRT1177895	hsa-miR-4797-5p	CLIP-seq
MIRT1177878	hsa-miR-759	CLIP-seq
MIRT1177896	hsa-miR-920	CLIP-seq
MIRT1177897	hsa-miR-939	CLIP-seq
MIRT2051473	hsa-miR-122	CLIP-seq
MIRT1177864	hsa-miR-129-5p	CLIP-seq
MIRT2051474	hsa-miR-1297	CLIP-seq
MIRT1177865	hsa-miR-147	CLIP-seq
MIRT1177868	hsa-miR-2113	CLIP-seq
MIRT2051475	hsa-miR-26a	CLIP-seq
MIRT2051476	hsa-miR-26b	CLIP-seq
MIRT1177882	hsa-miR-3170	CLIP-seq
MIRT2051477	hsa-miR-3659	CLIP-seq
MIRT2051478	hsa-miR-4266	CLIP-seq
MIRT2051479	hsa-miR-4465	CLIP-seq
MIRT2051480	hsa-miR-4466	CLIP-seq
MIRT1177876	hsa-miR-599	CLIP-seq
MIRT2051481	hsa-miR-675	CLIP-seq
MIRT2280501	hsa-miR-103a	CLIP-seq
MIRT2280502	hsa-miR-105	CLIP-seq
MIRT2280503	hsa-miR-107	CLIP-seq
MIRT2280504	hsa-miR-1245b-3p	CLIP-seq
MIRT1177864	hsa-miR-129-5p	CLIP-seq
MIRT2280505	hsa-miR-1322	CLIP-seq
MIRT1177865	hsa-miR-147	CLIP-seq
MIRT2280506	hsa-miR-1912	CLIP-seq
MIRT1177868	hsa-miR-2113	CLIP-seq
MIRT2280507	hsa-miR-3119	CLIP-seq
MIRT2280508	hsa-miR-3130-5p	CLIP-seq
MIRT2280509	hsa-miR-3140-3p	CLIP-seq
MIRT2280510	hsa-miR-3158-3p	CLIP-seq
MIRT1177882	hsa-miR-3170	CLIP-seq
MIRT2280511	hsa-miR-3171	CLIP-seq
MIRT2280512	hsa-miR-326	CLIP-seq
MIRT2280513	hsa-miR-330-5p	CLIP-seq
MIRT2280514	hsa-miR-3591-5p	CLIP-seq
MIRT1177870	hsa-miR-361-5p	CLIP-seq
MIRT2280515	hsa-miR-3646	CLIP-seq
MIRT1177886	hsa-miR-4300	CLIP-seq
MIRT1177888	hsa-miR-4443	CLIP-seq
MIRT2280516	hsa-miR-4446-3p	CLIP-seq
MIRT2280517	hsa-miR-4460	CLIP-seq
MIRT1177889	hsa-miR-4481	CLIP-seq
MIRT2280518	hsa-miR-4482	CLIP-seq
MIRT2280519	hsa-miR-450b-3p	CLIP-seq
MIRT2280520	hsa-miR-4654	CLIP-seq
MIRT2280521	hsa-miR-4661-3p	CLIP-seq
MIRT2280522	hsa-miR-4713-3p	CLIP-seq
MIRT1177892	hsa-miR-4716-3p	CLIP-seq
MIRT2280523	hsa-miR-4719	CLIP-seq
MIRT1177893	hsa-miR-4723-5p	CLIP-seq
MIRT2280524	hsa-miR-4727-3p	CLIP-seq
MIRT1177894	hsa-miR-4745-5p	CLIP-seq
MIRT2280525	hsa-miR-4769-5p	CLIP-seq
MIRT2280526	hsa-miR-4772-5p	CLIP-seq
MIRT2280527	hsa-miR-4777-3p	CLIP-seq
MIRT2280528	hsa-miR-545	CLIP-seq
MIRT1177876	hsa-miR-599	CLIP-seq
MIRT2280529	hsa-miR-638	CLIP-seq
MIRT1177878	hsa-miR-759	CLIP-seq
MIRT2280530	hsa-miR-769-3p	CLIP-seq
MIRT2280531	hsa-miR-875-5p	CLIP-seq
MIRT1177896	hsa-miR-920	CLIP-seq
MIRT1177897	hsa-miR-939	CLIP-seq
MIRT2578930	hsa-miR-1229	CLIP-seq
MIRT2578931	hsa-miR-1273f	CLIP-seq
MIRT2578932	hsa-miR-143	CLIP-seq
MIRT2578933	hsa-miR-2278	CLIP-seq
MIRT2280507	hsa-miR-3119	CLIP-seq
MIRT2280509	hsa-miR-3140-3p	CLIP-seq
MIRT2280510	hsa-miR-3158-3p	CLIP-seq
MIRT2578934	hsa-miR-342-3p	CLIP-seq
MIRT2578935	hsa-miR-4307	CLIP-seq
MIRT2578936	hsa-miR-4632	CLIP-seq
MIRT2578937	hsa-miR-4649-5p	CLIP-seq
MIRT2578938	hsa-miR-4708-5p	CLIP-seq
MIRT2578939	hsa-miR-4717-3p	CLIP-seq
MIRT2578940	hsa-miR-4770	CLIP-seq
MIRT2280526	hsa-miR-4772-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	IBA
GO:0000132	Process	Establishment of mitotic spindle orientation	IMP	19468067
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IBA
GO:0000776	Component	Kinetochore	IDA	17600710
GO:0000776	Component	Kinetochore	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0005515	Function	Protein binding	IPI	16682949, 17600710, 22843697, 25332407, 29961565, 31413325, 33961781, 35271311
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614, 21529752
GO:0005813	Component	Centrosome	IEA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005871	Component	Kinesin complex	IBA
GO:0005874	Component	Microtubule	IEA
GO:0007020	Process	Microtubule nucleation	IBA
GO:0007020	Process	Microtubule nucleation	IEA
GO:0007059	Process	Chromosome segregation	IBA
GO:0007100	Process	Mitotic centrosome separation	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0008017	Function	Microtubule binding	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0021987	Process	Cerebral cortex development	IMP	21529752
GO:0030154	Process	Cell differentiation	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0031023	Process	Microtubule organizing center organization	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031616	Component	Spindle pole centrosome	IEA
GO:0031616	Component	Spindle pole centrosome	ISS
GO:0032154	Component	Cleavage furrow	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	22843697
GO:0045202	Component	Synapse	IEA
GO:0047496	Process	Vesicle transport along microtubule	IBA
GO:0047496	Process	Vesicle transport along microtubule	IEA
GO:0050000	Process	Chromosome localization	IBA
GO:0050000	Process	Chromosome localization	IMP	17600710
GO:0051298	Process	Centrosome duplication	IEA
GO:0051298	Process	Centrosome duplication	ISS
GO:0051301	Process	Cell division	IEA
GO:0051642	Process	Centrosome localization	IBA

Other IDs

• MIM: 609449
• HGNC: 17619
• e!Ensembl: ENSG00000072864

Protein

• UniProt ID: Q9NXR1
• Protein name: Nuclear distribution protein nudE homolog 1 (NudE)
• Protein function: Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the mitotic spindle during divi
• PDB: 7E1T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04880	NUDE_C	134 → 312	NUDE protein, C-terminal conserved region	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the neuroepithelium throughout the developing brain, including the cerebral cortex and cerebellum. {ECO:0000269|PubMed:21529752}.
• Sequence:

  MEDSGKTFSSEEEEANYWKDLAMTYKQRAENTQEELREFQEGSREYEAELETQLQQIETR
  NRDLLSENNRLRMELETIKEKFEVQHSEGYRQISALEDDLAQTKAIKDQLQKYIRELEQA
  NDDLERAKRATIMSLEDFEQRLNQAIERNAFLESELDEKENLLESVQRLKDEARDLRQEL
  AVQQKQEKPRTPMPSSVEAERTDTAVQATGSVPSTPIAHRGPSSSLNTPGSFRRGLDDST
  GGTPLTPAARISALNIVGDLLRKVGALESKLASCRNLVYDQSPNRTGGPASGRSSKNRDG
  GERRPSSTSVPLGDKGLDTSCRWLSKSTTRSSSSC

• Sequence length: 335

Pathways

Reactome:

Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
RHO GTPases Activate Formins
Mitotic Prometaphase
AURKA Activation by TPX2
EML4 and NUDC in mitotic spindle formation

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
Lissencephaly 4	Pathogenic; Likely pathogenic	rs2151436194, rs576928842, rs756206942, rs749768828, rs1456594953, rs757604577	RCV002266561 RCV000146496 RCV000023769 RCV000023771 RCV000500421 RCV001335712	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NDE1-related disorder	Pathogenic	rs749768828	RCV004700274	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NDE1-related microhydranencephaly	Pathogenic	rs2151436194, rs756206942	RCV002266560 RCV003129756	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AORTIC ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM, FAMILIAL THORACIC 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTESTINAL PSEUDO-OBSTRUCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANEURYSM OF ASCENDING AORTA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRANENCEPHALY	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEFT VENTRICULAR ABNORMALITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY 4 WITH MICROCEPHALY	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly, Recessive	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY WITH LISSENCEPHALY AND/OR HYDRANENCEPHALY	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROHYDRANENCEPHALY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROLISSENCEPHALY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICUSPID VALVE INSUFFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISCERAL MYOPATHY 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agyria	Agyria	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34981809	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28033519		★☆☆☆☆ Found in Text Mining only
Aortic aneurysm, familial thoracic 4	Aortic Aneurysm	CLINVAR_DG	16444274, 21937134, 27611364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	25332407	Associate	★☆☆☆☆ Found in Text Mining only
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	23704059	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19621391, 20661229		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chorioretinal atrophy	Chorioretinal atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Classical Lissencephaly	Lissencephaly	BEFREE	24256262		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19491830		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	22526350		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	19300510	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28033519		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	19786961	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	19621391		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37349788	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	ORPHANET_DG	22526350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydranencephaly	Hydranencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydranencephaly	Hydranencephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic hippocampus	Hypoplastic hippocampus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31441374		★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	21529751, 22526350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly	Lissencephaly	Pubtator	38194050	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly	Lissencephaly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly	Lissencephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY 4	Lissencephaly	CLINVAR_DG	21529751, 21529752		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LISSENCEPHALY 4	Lissencephaly	GENOMICS_ENGLAND_DG	21529752, 22526350		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Little`s Disease	Spastic diplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular dystrophy corneal type 1	Macular dystrophy	Pubtator	38194050	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	38194050	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25684141		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28033519		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27742926, 28082141		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	21529751, 22526350, 23704059, 24098143, 27553190, 27742926, 29191162, 30637988		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	23704059, 24098143	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MICROHYDRANENCEPHALY	Microhydranencephaly	GENOMICS_ENGLAND_DG	21529752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROHYDRANENCEPHALY	Microhydranencephaly	BEFREE	22526350, 30637988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROHYDRANENCEPHALY	Microhydranencephaly	ORPHANET_DG	22526350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROHYDRANENCEPHALY	Microhydranencephaly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microlissencephaly	Microlissencephaly	ORPHANET_DG	21529751, 21529752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microlissencephaly	Microlissencephaly	BEFREE	22526350, 30637988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NDE1-related microhydranencephaly	Microhydranencephaly	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasms	Neoplasms	BEFREE	19491830, 19621391, 20661229		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	24256262		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27742926		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	20084519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	20084519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30502924		★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	21529752		★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	19300510	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	20084519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	20084519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Kaposi	Sarcoma	Pubtator	38194050	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17185386, 18469341, 19251251, 21195721, 25332407, 26350705, 27742926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17185386, 18469341, 19251251, 20084519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	19251251, 25332407, 26350705, 29142105	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Congenital Microcephaly	Congenital Microcephaly	BEFREE	29191162		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thymus Neoplasms	Thymus Neoplasms	BEFREE	10483588		★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations