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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	81565
Gene name	NudE neurodevelopment protein 1 like 1
Gene symbol	NDEL1
Synonyms (NCBI Gene)	EOPAMITAP1NDE1L1NDE2NUDEL
Chromosome	17
Chromosome location	17p13.1
Summary	This gene encodes a coiled-coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. Alternatively spliced transcript variants encoding multiple isoforms have

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020142	hsa-miR-130b-3p	Sequencing	20371350
MIRT027032	hsa-miR-103a-3p	Sequencing	20371350
MIRT027990	hsa-miR-93-5p	Sequencing	20371350
MIRT028403	hsa-miR-30a-5p	Proteomics	18668040
MIRT031092	hsa-miR-19b-3p	Sequencing	20371350
MIRT045706	hsa-miR-125a-5p	CLASH	23622248
MIRT701533	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT701532	hsa-miR-7162-3p	HITS-CLIP	23313552
MIRT701531	hsa-miR-4524a-3p	HITS-CLIP	23313552
MIRT701530	hsa-miR-3150b-3p	HITS-CLIP	23313552
MIRT701529	hsa-miR-4784	HITS-CLIP	23313552
MIRT701528	hsa-miR-3197	HITS-CLIP	23313552
MIRT701527	hsa-miR-6087	HITS-CLIP	23313552
MIRT701526	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT701525	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT701524	hsa-miR-765	HITS-CLIP	23313552
MIRT701523	hsa-miR-6722-5p	HITS-CLIP	23313552
MIRT701522	hsa-miR-4505	HITS-CLIP	23313552
MIRT701521	hsa-miR-5787	HITS-CLIP	23313552
MIRT701520	hsa-miR-2861	HITS-CLIP	23313552
MIRT701519	hsa-miR-6765-5p	HITS-CLIP	23313552
MIRT701518	hsa-miR-330-5p	HITS-CLIP	23313552
MIRT028403	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT727093	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT727092	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT727091	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727090	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT701533	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT701532	hsa-miR-7162-3p	HITS-CLIP	23313552
MIRT701531	hsa-miR-4524a-3p	HITS-CLIP	23313552
MIRT701530	hsa-miR-3150b-3p	HITS-CLIP	23313552
MIRT701529	hsa-miR-4784	HITS-CLIP	23313552
MIRT701528	hsa-miR-3197	HITS-CLIP	23313552
MIRT701527	hsa-miR-6087	HITS-CLIP	23313552
MIRT701526	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT701525	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT701524	hsa-miR-765	HITS-CLIP	23313552
MIRT701523	hsa-miR-6722-5p	HITS-CLIP	23313552
MIRT701522	hsa-miR-4505	HITS-CLIP	23313552
MIRT701521	hsa-miR-5787	HITS-CLIP	23313552
MIRT701520	hsa-miR-2861	HITS-CLIP	23313552
MIRT701519	hsa-miR-6765-5p	HITS-CLIP	23313552
MIRT701518	hsa-miR-330-5p	HITS-CLIP	23313552
MIRT1177898	hsa-miR-103a	CLIP-seq
MIRT1177899	hsa-miR-106a	CLIP-seq
MIRT1177900	hsa-miR-106b	CLIP-seq
MIRT1177901	hsa-miR-107	CLIP-seq
MIRT1177902	hsa-miR-1197	CLIP-seq
MIRT1177903	hsa-miR-1253	CLIP-seq
MIRT1177904	hsa-miR-1275	CLIP-seq
MIRT1177905	hsa-miR-130a	CLIP-seq
MIRT1177906	hsa-miR-130b	CLIP-seq
MIRT1177907	hsa-miR-17	CLIP-seq
MIRT1177908	hsa-miR-20a	CLIP-seq
MIRT1177909	hsa-miR-20b	CLIP-seq
MIRT1177910	hsa-miR-301a	CLIP-seq
MIRT1177911	hsa-miR-301b	CLIP-seq
MIRT1177912	hsa-miR-30a	CLIP-seq
MIRT1177913	hsa-miR-30b	CLIP-seq
MIRT1177914	hsa-miR-30c	CLIP-seq
MIRT1177915	hsa-miR-30d	CLIP-seq
MIRT1177916	hsa-miR-30e	CLIP-seq
MIRT1177917	hsa-miR-3143	CLIP-seq
MIRT1177918	hsa-miR-3200-3p	CLIP-seq
MIRT1177919	hsa-miR-338-5p	CLIP-seq
MIRT1177920	hsa-miR-3607-5p	CLIP-seq
MIRT1177921	hsa-miR-3666	CLIP-seq
MIRT1177922	hsa-miR-3924	CLIP-seq
MIRT1177923	hsa-miR-4259	CLIP-seq
MIRT1177924	hsa-miR-4295	CLIP-seq
MIRT1177925	hsa-miR-4427	CLIP-seq
MIRT1177926	hsa-miR-4495	CLIP-seq
MIRT1177927	hsa-miR-4525	CLIP-seq
MIRT1177928	hsa-miR-454	CLIP-seq
MIRT1177929	hsa-miR-4643	CLIP-seq
MIRT1177930	hsa-miR-4651	CLIP-seq
MIRT1177931	hsa-miR-4653-3p	CLIP-seq
MIRT1177932	hsa-miR-4665-5p	CLIP-seq
MIRT1177933	hsa-miR-4676-5p	CLIP-seq
MIRT1177934	hsa-miR-4680-3p	CLIP-seq
MIRT1177935	hsa-miR-4693-3p	CLIP-seq
MIRT1177936	hsa-miR-4712-3p	CLIP-seq
MIRT1177937	hsa-miR-4723-5p	CLIP-seq
MIRT1177938	hsa-miR-519a	CLIP-seq
MIRT1177939	hsa-miR-519b-3p	CLIP-seq
MIRT1177940	hsa-miR-519c-3p	CLIP-seq
MIRT1177941	hsa-miR-519d	CLIP-seq
MIRT1177942	hsa-miR-520d-5p	CLIP-seq
MIRT1177943	hsa-miR-524-5p	CLIP-seq
MIRT1177944	hsa-miR-548t	CLIP-seq
MIRT1177945	hsa-miR-551a	CLIP-seq
MIRT1177946	hsa-miR-551b	CLIP-seq
MIRT1177947	hsa-miR-571	CLIP-seq
MIRT1177948	hsa-miR-575	CLIP-seq
MIRT1177949	hsa-miR-608	CLIP-seq
MIRT1177950	hsa-miR-625	CLIP-seq
MIRT1177951	hsa-miR-642b	CLIP-seq
MIRT1177952	hsa-miR-759	CLIP-seq
MIRT1177953	hsa-miR-93	CLIP-seq
MIRT1177898	hsa-miR-103a	CLIP-seq
MIRT1177901	hsa-miR-107	CLIP-seq
MIRT1177903	hsa-miR-1253	CLIP-seq
MIRT2051482	hsa-miR-1254	CLIP-seq
MIRT2051483	hsa-miR-1256	CLIP-seq
MIRT2051484	hsa-miR-1293	CLIP-seq
MIRT2051485	hsa-miR-22	CLIP-seq
MIRT1177912	hsa-miR-30a	CLIP-seq
MIRT1177913	hsa-miR-30b	CLIP-seq
MIRT1177914	hsa-miR-30c	CLIP-seq
MIRT1177915	hsa-miR-30d	CLIP-seq
MIRT1177916	hsa-miR-30e	CLIP-seq
MIRT2051486	hsa-miR-3116	CLIP-seq
MIRT2051487	hsa-miR-3670	CLIP-seq
MIRT2051488	hsa-miR-4285	CLIP-seq
MIRT2051489	hsa-miR-4289	CLIP-seq
MIRT2051490	hsa-miR-4300	CLIP-seq
MIRT2051491	hsa-miR-4483	CLIP-seq
MIRT1177926	hsa-miR-4495	CLIP-seq
MIRT1177936	hsa-miR-4712-3p	CLIP-seq
MIRT2051492	hsa-miR-661	CLIP-seq
MIRT2051493	hsa-miR-920	CLIP-seq
MIRT1177937	hsa-miR-4723-5p	CLIP-seq
MIRT2280532	hsa-miR-1225-5p	CLIP-seq
MIRT1177904	hsa-miR-1275	CLIP-seq
MIRT2280533	hsa-miR-1294	CLIP-seq
MIRT2280534	hsa-miR-3184	CLIP-seq
MIRT2280535	hsa-miR-324-5p	CLIP-seq
MIRT2280536	hsa-miR-3665	CLIP-seq
MIRT2280537	hsa-miR-3675-5p	CLIP-seq
MIRT2280538	hsa-miR-3682-5p	CLIP-seq
MIRT2280539	hsa-miR-3934	CLIP-seq
MIRT2280540	hsa-miR-423-5p	CLIP-seq
MIRT1177923	hsa-miR-4259	CLIP-seq
MIRT2280541	hsa-miR-4316	CLIP-seq
MIRT2280542	hsa-miR-4447	CLIP-seq
MIRT2280543	hsa-miR-4472	CLIP-seq
MIRT2280544	hsa-miR-4481	CLIP-seq
MIRT2280545	hsa-miR-4488	CLIP-seq
MIRT2280546	hsa-miR-4489	CLIP-seq
MIRT2280547	hsa-miR-4506	CLIP-seq
MIRT1177927	hsa-miR-4525	CLIP-seq
MIRT1177930	hsa-miR-4651	CLIP-seq
MIRT1177931	hsa-miR-4653-3p	CLIP-seq
MIRT1177932	hsa-miR-4665-5p	CLIP-seq
MIRT2280548	hsa-miR-4677-3p	CLIP-seq
MIRT2280549	hsa-miR-4697-5p	CLIP-seq
MIRT1177937	hsa-miR-4723-5p	CLIP-seq
MIRT2280550	hsa-miR-4736	CLIP-seq
MIRT2280551	hsa-miR-4745-5p	CLIP-seq
MIRT2280552	hsa-miR-4790-3p	CLIP-seq
MIRT2280553	hsa-miR-486-3p	CLIP-seq
MIRT2280554	hsa-miR-544	CLIP-seq
MIRT2280555	hsa-miR-548g	CLIP-seq
MIRT1177947	hsa-miR-571	CLIP-seq
MIRT1177949	hsa-miR-608	CLIP-seq
MIRT1177950	hsa-miR-625	CLIP-seq
MIRT1177952	hsa-miR-759	CLIP-seq
MIRT2391433	hsa-miR-1910	CLIP-seq
MIRT2391434	hsa-miR-4269	CLIP-seq
MIRT1177937	hsa-miR-4723-5p	CLIP-seq
MIRT2578941	hsa-miR-1	CLIP-seq
MIRT2578942	hsa-miR-1207-5p	CLIP-seq
MIRT2578943	hsa-miR-1252	CLIP-seq
MIRT1177903	hsa-miR-1253	CLIP-seq
MIRT2051483	hsa-miR-1256	CLIP-seq
MIRT2578944	hsa-miR-1281	CLIP-seq
MIRT2578945	hsa-miR-1285	CLIP-seq
MIRT2578946	hsa-miR-18a	CLIP-seq
MIRT2578947	hsa-miR-18b	CLIP-seq
MIRT2578948	hsa-miR-206	CLIP-seq
MIRT2578949	hsa-miR-217	CLIP-seq
MIRT2578950	hsa-miR-218	CLIP-seq
MIRT2051485	hsa-miR-22	CLIP-seq
MIRT2578951	hsa-miR-24	CLIP-seq
MIRT2578952	hsa-miR-298	CLIP-seq
MIRT2578953	hsa-miR-3145-5p	CLIP-seq
MIRT2578954	hsa-miR-3151	CLIP-seq
MIRT2578955	hsa-miR-3187-5p	CLIP-seq
MIRT2578956	hsa-miR-3192	CLIP-seq
MIRT2578957	hsa-miR-3194-3p	CLIP-seq
MIRT2578958	hsa-miR-326	CLIP-seq
MIRT2578959	hsa-miR-3545-3p	CLIP-seq
MIRT2578960	hsa-miR-3612	CLIP-seq
MIRT2578961	hsa-miR-3620	CLIP-seq
MIRT2578962	hsa-miR-3673	CLIP-seq
MIRT2578963	hsa-miR-3689a-3p	CLIP-seq
MIRT2578964	hsa-miR-3689c	CLIP-seq
MIRT2578965	hsa-miR-3918	CLIP-seq
MIRT2578966	hsa-miR-4252	CLIP-seq
MIRT2578967	hsa-miR-4283	CLIP-seq
MIRT2051488	hsa-miR-4285	CLIP-seq
MIRT2051489	hsa-miR-4289	CLIP-seq
MIRT2578968	hsa-miR-4290	CLIP-seq
MIRT2578969	hsa-miR-4308	CLIP-seq
MIRT2578970	hsa-miR-4314	CLIP-seq
MIRT2578971	hsa-miR-4437	CLIP-seq
MIRT2280546	hsa-miR-4489	CLIP-seq
MIRT2578972	hsa-miR-4492	CLIP-seq
MIRT2578973	hsa-miR-4497	CLIP-seq
MIRT2578974	hsa-miR-4498	CLIP-seq
MIRT2578975	hsa-miR-4508	CLIP-seq
MIRT2578976	hsa-miR-4646-5p	CLIP-seq
MIRT2578977	hsa-miR-4668-3p	CLIP-seq
MIRT1177933	hsa-miR-4676-5p	CLIP-seq
MIRT2578978	hsa-miR-4681	CLIP-seq
MIRT2578979	hsa-miR-4707-3p	CLIP-seq
MIRT2578980	hsa-miR-4720-3p	CLIP-seq
MIRT2578981	hsa-miR-4728-5p	CLIP-seq
MIRT2578982	hsa-miR-4735-3p	CLIP-seq
MIRT2578983	hsa-miR-4747-5p	CLIP-seq
MIRT2578984	hsa-miR-4763-3p	CLIP-seq
MIRT2578985	hsa-miR-4763-5p	CLIP-seq
MIRT2280552	hsa-miR-4790-3p	CLIP-seq
MIRT2578986	hsa-miR-4804-3p	CLIP-seq
MIRT2578987	hsa-miR-483-5p	CLIP-seq
MIRT2578988	hsa-miR-570	CLIP-seq
MIRT1177948	hsa-miR-575	CLIP-seq
MIRT2578989	hsa-miR-596	CLIP-seq
MIRT2578990	hsa-miR-612	CLIP-seq
MIRT2578991	hsa-miR-613	CLIP-seq
MIRT2578992	hsa-miR-650	CLIP-seq
MIRT2578993	hsa-miR-7	CLIP-seq
MIRT2578994	hsa-miR-762	CLIP-seq
MIRT2578941	hsa-miR-1	CLIP-seq
MIRT2578943	hsa-miR-1252	CLIP-seq
MIRT1177903	hsa-miR-1253	CLIP-seq
MIRT2051483	hsa-miR-1256	CLIP-seq
MIRT2578944	hsa-miR-1281	CLIP-seq
MIRT2578946	hsa-miR-18a	CLIP-seq
MIRT2578947	hsa-miR-18b	CLIP-seq
MIRT2578948	hsa-miR-206	CLIP-seq
MIRT2578949	hsa-miR-217	CLIP-seq
MIRT2578950	hsa-miR-218	CLIP-seq
MIRT2051485	hsa-miR-22	CLIP-seq
MIRT2578951	hsa-miR-24	CLIP-seq
MIRT2578953	hsa-miR-3145-5p	CLIP-seq
MIRT2578954	hsa-miR-3151	CLIP-seq
MIRT2578956	hsa-miR-3192	CLIP-seq
MIRT2578957	hsa-miR-3194-3p	CLIP-seq
MIRT2578958	hsa-miR-326	CLIP-seq
MIRT2578959	hsa-miR-3545-3p	CLIP-seq
MIRT2578960	hsa-miR-3612	CLIP-seq
MIRT2578962	hsa-miR-3673	CLIP-seq
MIRT2578963	hsa-miR-3689a-3p	CLIP-seq
MIRT2578964	hsa-miR-3689c	CLIP-seq
MIRT2578966	hsa-miR-4252	CLIP-seq
MIRT2578967	hsa-miR-4283	CLIP-seq
MIRT2051488	hsa-miR-4285	CLIP-seq
MIRT2051489	hsa-miR-4289	CLIP-seq
MIRT2578968	hsa-miR-4290	CLIP-seq
MIRT2578970	hsa-miR-4314	CLIP-seq
MIRT2578971	hsa-miR-4437	CLIP-seq
MIRT2685997	hsa-miR-4469	CLIP-seq
MIRT2280546	hsa-miR-4489	CLIP-seq
MIRT2578976	hsa-miR-4646-5p	CLIP-seq
MIRT2578977	hsa-miR-4668-3p	CLIP-seq
MIRT1177933	hsa-miR-4676-5p	CLIP-seq
MIRT2578978	hsa-miR-4681	CLIP-seq
MIRT2578979	hsa-miR-4707-3p	CLIP-seq
MIRT2578980	hsa-miR-4720-3p	CLIP-seq
MIRT2578981	hsa-miR-4728-5p	CLIP-seq
MIRT2578982	hsa-miR-4735-3p	CLIP-seq
MIRT2578983	hsa-miR-4747-5p	CLIP-seq
MIRT2578985	hsa-miR-4763-5p	CLIP-seq
MIRT2280552	hsa-miR-4790-3p	CLIP-seq
MIRT2578986	hsa-miR-4804-3p	CLIP-seq
MIRT2578987	hsa-miR-483-5p	CLIP-seq
MIRT2578988	hsa-miR-570	CLIP-seq
MIRT1177948	hsa-miR-575	CLIP-seq
MIRT2578989	hsa-miR-596	CLIP-seq
MIRT2578991	hsa-miR-613	CLIP-seq
MIRT2578992	hsa-miR-650	CLIP-seq
MIRT2578993	hsa-miR-7	CLIP-seq

Show/Hide all (61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	IBA
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
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:0001833	Process	Inner cell mass cell proliferation	IEA
GO:0005515	Function	Protein binding	IPI	10931877, 12812986, 15572112, 17035248, 17043677, 17600710, 17997972, 19492042, 20360068, 20880836, 22114287, 22843697, 25416956, 25910212, 26496610, 26638075, 27173435, 29892012, 29961565, 31413325, 31515488, 32296183, 32814053, 33961781
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
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:0005875	Component	Microtubule associated complex	IEA
GO:0007020	Process	Microtubule nucleation	IBA
GO:0007059	Process	Chromosome segregation	IBA
GO:0007059	Process	Chromosome segregation	IMP	17600710
GO:0007100	Process	Mitotic centrosome separation	IBA
GO:0007100	Process	Mitotic centrosome separation	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008090	Process	Retrograde axonal transport	IEA
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0010975	Process	Regulation of neuron projection development	IBA
GO:0010975	Process	Regulation of neuron projection development	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016477	Process	Cell migration	IEA
GO:0021799	Process	Cerebral cortex radially oriented cell migration	IEA
GO:0021955	Process	Central nervous system neuron axonogenesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030424	Component	Axon	IEA
GO:0031252	Component	Cell leading edge	IEA
GO:0032418	Process	Lysosome localization	IEA
GO:0032418	Process	Lysosome localization	ISS
GO:0033157	Process	Regulation of intracellular protein transport	IMP	21283621
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	10931877, 17997972, 22843697, 25416956, 32296183
GO:0043014	Function	Alpha-tubulin binding	IEA
GO:0043203	Component	Axon hillock	IEA
GO:0043547	Process	Positive regulation of GTPase activity	IMP	21283621
GO:0047496	Process	Vesicle transport along microtubule	IBA
GO:0047496	Process	Vesicle transport along microtubule	IEA
GO:0048487	Function	Beta-tubulin binding	IEA
GO:0050000	Process	Chromosome localization	IBA
GO:0051642	Process	Centrosome localization	IBA
GO:0051642	Process	Centrosome localization	IEA
GO:0060052	Process	Neurofilament cytoskeleton organization	IEA
GO:0060053	Component	Neurofilament cytoskeleton	IEA
GO:0140650	Process	Radial glia-guided pyramidal neuron migration	IEA
GO:1900029	Process	Positive regulation of ruffle assembly	IEA
GO:1900029	Process	Positive regulation of ruffle assembly	ISS
GO:1904115	Component	Axon cytoplasm	IEA
GO:1990138	Process	Neuron projection extension	IEA

MIM	HGNC	e!Ensembl
607538	17620	ENSG00000166579

Q9GZM8

Protein name

Nuclear distribution protein nudE-like 1 (Protein Nudel) (Mitosin-associated protein 1)

Protein function

Required for organization of the cellular microtubule array and microtubule anchoring at the centrosome. May regulate microtubule organization at least in part by targeting the microtubule severing protein KATNA1 to the centrosome. Also positive

PDB

2V66

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04880	NUDE_C	135 → 309	NUDE protein, C-terminal conserved region	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. {ECO:0000269|PubMed:16005531}.

Sequence

MDGEDIPDFSSLKEETAYWKELSLKYKQSFQEARDELVEFQEGSRELEAELEAQLVQAEQ
RNRDLQADNQRLKYEVEALKEKLEHQYAQSYKQVSVLEDDLSQTRAIKEQLHKYVRELEQ
ANDDLERAKRATIVSLEDFEQRLNQAIERNAFLESELDEKESLLVSVQRLKDEARDLRQE
LAVRERQQEVTRKSAPSSPTLDCEKMDSAVQASLSLPATPVGKGTENTFPSPKAIPNGFG
TSPLTPSARISALNIVGDLLRKVGALESKLAACRNFAKDQASRKSYISGNVNCGVLNGNG
TKFSRSGHTSFFDKGAVNGFDPAPPPPGLGSSRPSSAPGMLPLSV

Sequence length

345

Interactions

View interactions

	Reactome
			Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion RHO GTPases Activate Formins Mitotic Prometaphase EML4 and NUDC in mitotic spindle formation

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 Unknown Diseases (10)

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.
ARTHRITIS, JUVENILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (45)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anencephaly	Anencephaly	Pubtator	24634123	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	1680192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	21890215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	27701407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	27701407	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	30321766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	30409304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic schizophrenia	Schizophrenia	BEFREE	30857875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Classical Lissencephalies and Subcortical Band Heterotopias	Lissencephaly	Pubtator	17997972, 38194050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	24634123	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	26491028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	1556680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	30199849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30940662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	32717241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Iridocyclitis	Iridocyclitis	BEFREE	1556680, 1757943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iritis	Iritis	BEFREE	1556680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	7868378, 8203956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	17482883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	20168084, 38194050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	38194050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	26491028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27742926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	27742926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	12796778		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	17482883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18400883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27742926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	20084519		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	27701407, 30857875		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	PSYGENET_DG	20084519, 22099459		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	27701407, 30857875		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	27701407	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Kaposi	Sarcoma	Pubtator	38194050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17258902, 17482883, 18469341, 19251251, 20084519, 21195721, 21998303, 22099459, 24940743, 26851141, 27742926, 29103808, 30321766, 30857875		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	18469341		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	19251251, 21998303, 29142105	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20084519, 21998303, 22099459, 24940743		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	27701407	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus	Status Epilepticus	BEFREE	27298008		★★★★★ ★☆☆☆☆ Found in Text Mining only

NDEL1 (nudE neurodevelopment protein 1 like 1)