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	4330
Gene name	MN1 proto-oncogene, transcriptional regulator
Gene symbol	MN1
Synonyms (NCBI Gene)	CEBALIDMGCRMGCR1MGCR1-PENdJ353E16.2
Chromosome	22
Chromosome location	22q12.1
Summary	Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq, Jul 2008]

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs147334255	G>A	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs761317200	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1568986066	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1568986076	TAATG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1601319501	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1601319538	->TTGGCGTCAC	Pathogenic	Coding sequence variant, stop gained
rs1601319584	ACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601319598	G>A	Pathogenic	Coding sequence variant, stop gained
rs1601319615	G>A	Pathogenic	Coding sequence variant, stop gained

269

Show/Hide all (269)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006181	hsa-miR-15a-5p	Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot	21880628
MIRT006181	hsa-miR-15a-5p	Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot	21880628
MIRT006181	hsa-miR-15a-5p	Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot	21880628
MIRT006181	hsa-miR-15a-5p	Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot	21880628
MIRT006181	hsa-miR-15a-5p	Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot	21880628
MIRT006181	hsa-miR-15a-5p	Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot	21880628
MIRT006181	hsa-miR-15a-5p	Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot	21880628
MIRT006181	hsa-miR-15a-5p	Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot	21880628
MIRT006181	hsa-miR-15a-5p	Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot	21880628
MIRT006181	hsa-miR-15a-5p	Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot	21880628
MIRT006181	hsa-miR-15a-5p	Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot	21880628
MIRT006181	hsa-miR-15a-5p	Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot	21880628
MIRT018049	hsa-miR-335-5p	Microarray	18185580
MIRT021439	hsa-miR-9-5p	Microarray	17612493
MIRT723856	hsa-miR-543	HITS-CLIP	19536157
MIRT723855	hsa-miR-2278	HITS-CLIP	19536157
MIRT723854	hsa-miR-6501-3p	HITS-CLIP	19536157
MIRT723853	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT723852	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT723851	hsa-miR-188-3p	HITS-CLIP	19536157
MIRT723850	hsa-miR-1260a	HITS-CLIP	19536157
MIRT723849	hsa-miR-1260b	HITS-CLIP	19536157
MIRT723848	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT723847	hsa-miR-548u	HITS-CLIP	19536157
MIRT723846	hsa-miR-7161-5p	HITS-CLIP	19536157
MIRT723845	hsa-miR-7112-5p	HITS-CLIP	19536157
MIRT723844	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT723843	hsa-miR-6772-3p	HITS-CLIP	19536157
MIRT723856	hsa-miR-543	HITS-CLIP	19536157
MIRT723855	hsa-miR-2278	HITS-CLIP	19536157
MIRT723854	hsa-miR-6501-3p	HITS-CLIP	19536157
MIRT723853	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT723852	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT723851	hsa-miR-188-3p	HITS-CLIP	19536157
MIRT723850	hsa-miR-1260a	HITS-CLIP	19536157
MIRT723849	hsa-miR-1260b	HITS-CLIP	19536157
MIRT723848	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT723847	hsa-miR-548u	HITS-CLIP	19536157
MIRT723846	hsa-miR-7161-5p	HITS-CLIP	19536157
MIRT723845	hsa-miR-7112-5p	HITS-CLIP	19536157
MIRT723844	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT723843	hsa-miR-6772-3p	HITS-CLIP	19536157
MIRT1153792	hsa-miR-1180	CLIP-seq
MIRT1153793	hsa-miR-1252	CLIP-seq
MIRT1153794	hsa-miR-1298	CLIP-seq
MIRT1153795	hsa-miR-1321	CLIP-seq
MIRT1153796	hsa-miR-1324	CLIP-seq
MIRT1153797	hsa-miR-1470	CLIP-seq
MIRT1153798	hsa-miR-1913	CLIP-seq
MIRT1153799	hsa-miR-1915	CLIP-seq
MIRT1153800	hsa-miR-204	CLIP-seq
MIRT1153801	hsa-miR-211	CLIP-seq
MIRT1153802	hsa-miR-298	CLIP-seq
MIRT1153803	hsa-miR-300	CLIP-seq
MIRT1153804	hsa-miR-3125	CLIP-seq
MIRT1153805	hsa-miR-3154	CLIP-seq
MIRT1153806	hsa-miR-3166	CLIP-seq
MIRT1153807	hsa-miR-3170	CLIP-seq
MIRT1153808	hsa-miR-3175	CLIP-seq
MIRT1153809	hsa-miR-324-3p	CLIP-seq
MIRT1153810	hsa-miR-338-5p	CLIP-seq
MIRT1153811	hsa-miR-3646	CLIP-seq
MIRT1153812	hsa-miR-3650	CLIP-seq
MIRT1153813	hsa-miR-3658	CLIP-seq
MIRT1153814	hsa-miR-3688-5p	CLIP-seq
MIRT1153815	hsa-miR-381	CLIP-seq
MIRT1153816	hsa-miR-3916	CLIP-seq
MIRT1153817	hsa-miR-3938	CLIP-seq
MIRT1153818	hsa-miR-3942-3p	CLIP-seq
MIRT1153819	hsa-miR-4252	CLIP-seq
MIRT1153820	hsa-miR-4261	CLIP-seq
MIRT1153821	hsa-miR-4318	CLIP-seq
MIRT1153822	hsa-miR-4423-5p	CLIP-seq
MIRT1153823	hsa-miR-4434	CLIP-seq
MIRT1153824	hsa-miR-4455	CLIP-seq
MIRT1153825	hsa-miR-4496	CLIP-seq
MIRT1153826	hsa-miR-4516	CLIP-seq
MIRT1153827	hsa-miR-4533	CLIP-seq
MIRT1153828	hsa-miR-4651	CLIP-seq
MIRT1153829	hsa-miR-4664-3p	CLIP-seq
MIRT1153830	hsa-miR-4666-3p	CLIP-seq
MIRT1153831	hsa-miR-4667-3p	CLIP-seq
MIRT1153832	hsa-miR-4693-5p	CLIP-seq
MIRT1153833	hsa-miR-4716-3p	CLIP-seq
MIRT1153834	hsa-miR-4722-3p	CLIP-seq
MIRT1153835	hsa-miR-4723-5p	CLIP-seq
MIRT1153836	hsa-miR-4726-3p	CLIP-seq
MIRT1153837	hsa-miR-4728-5p	CLIP-seq
MIRT1153838	hsa-miR-4739	CLIP-seq
MIRT1153839	hsa-miR-4749-3p	CLIP-seq
MIRT1153840	hsa-miR-4753-3p	CLIP-seq
MIRT1153841	hsa-miR-4755-5p	CLIP-seq
MIRT1153842	hsa-miR-4756-5p	CLIP-seq
MIRT1153843	hsa-miR-4763-5p	CLIP-seq
MIRT1153844	hsa-miR-4803	CLIP-seq
MIRT1153845	hsa-miR-552	CLIP-seq
MIRT1153846	hsa-miR-579	CLIP-seq
MIRT1153847	hsa-miR-583	CLIP-seq
MIRT1153848	hsa-miR-587	CLIP-seq
MIRT1153849	hsa-miR-608	CLIP-seq
MIRT1153850	hsa-miR-623	CLIP-seq
MIRT1153851	hsa-miR-625	CLIP-seq
MIRT1153852	hsa-miR-648	CLIP-seq
MIRT1153853	hsa-miR-892a	CLIP-seq
MIRT2044004	hsa-miR-1269	CLIP-seq
MIRT2044005	hsa-miR-1269b	CLIP-seq
MIRT2044006	hsa-miR-1286	CLIP-seq
MIRT2044007	hsa-miR-1288	CLIP-seq
MIRT1153794	hsa-miR-1298	CLIP-seq
MIRT1153797	hsa-miR-1470	CLIP-seq
MIRT1153799	hsa-miR-1915	CLIP-seq
MIRT1153807	hsa-miR-3170	CLIP-seq
MIRT2044008	hsa-miR-3652	CLIP-seq
MIRT2044009	hsa-miR-378	CLIP-seq
MIRT2044010	hsa-miR-378b	CLIP-seq
MIRT2044011	hsa-miR-378c	CLIP-seq
MIRT2044012	hsa-miR-378d	CLIP-seq
MIRT2044013	hsa-miR-378e	CLIP-seq
MIRT2044014	hsa-miR-378f	CLIP-seq
MIRT2044015	hsa-miR-378h	CLIP-seq
MIRT2044016	hsa-miR-378i	CLIP-seq
MIRT2044017	hsa-miR-3973	CLIP-seq
MIRT2044018	hsa-miR-422a	CLIP-seq
MIRT2044019	hsa-miR-4430	CLIP-seq
MIRT2044020	hsa-miR-4450	CLIP-seq
MIRT2044021	hsa-miR-4468	CLIP-seq
MIRT2044022	hsa-miR-4487	CLIP-seq
MIRT2044023	hsa-miR-4515	CLIP-seq
MIRT2044024	hsa-miR-4638-3p	CLIP-seq
MIRT1153828	hsa-miR-4651	CLIP-seq
MIRT1153831	hsa-miR-4667-3p	CLIP-seq
MIRT2044025	hsa-miR-4667-5p	CLIP-seq
MIRT2044026	hsa-miR-4700-5p	CLIP-seq
MIRT2044027	hsa-miR-4722-5p	CLIP-seq
MIRT1153836	hsa-miR-4726-3p	CLIP-seq
MIRT2044028	hsa-miR-4740-5p	CLIP-seq
MIRT2044029	hsa-miR-520g	CLIP-seq
MIRT2044030	hsa-miR-520h	CLIP-seq
MIRT1153849	hsa-miR-608	CLIP-seq
MIRT1153797	hsa-miR-1470	CLIP-seq
MIRT1153799	hsa-miR-1915	CLIP-seq
MIRT2273394	hsa-miR-3143	CLIP-seq
MIRT2273395	hsa-miR-3153	CLIP-seq
MIRT1153807	hsa-miR-3170	CLIP-seq
MIRT2273396	hsa-miR-3929	CLIP-seq
MIRT2273397	hsa-miR-410	CLIP-seq
MIRT2273398	hsa-miR-4289	CLIP-seq
MIRT2273399	hsa-miR-4419b	CLIP-seq
MIRT2044021	hsa-miR-4468	CLIP-seq
MIRT2273400	hsa-miR-4478	CLIP-seq
MIRT2273401	hsa-miR-451b	CLIP-seq
MIRT1153828	hsa-miR-4651	CLIP-seq
MIRT2273402	hsa-miR-4663	CLIP-seq
MIRT1153831	hsa-miR-4667-3p	CLIP-seq
MIRT2273403	hsa-miR-4690-5p	CLIP-seq
MIRT1153836	hsa-miR-4726-3p	CLIP-seq
MIRT2273404	hsa-miR-556-5p	CLIP-seq
MIRT1153849	hsa-miR-608	CLIP-seq
MIRT2273405	hsa-miR-610	CLIP-seq
MIRT1153797	hsa-miR-1470	CLIP-seq
MIRT1153799	hsa-miR-1915	CLIP-seq
MIRT1153807	hsa-miR-3170	CLIP-seq
MIRT1153828	hsa-miR-4651	CLIP-seq
MIRT1153831	hsa-miR-4667-3p	CLIP-seq
MIRT1153836	hsa-miR-4726-3p	CLIP-seq
MIRT1153849	hsa-miR-608	CLIP-seq
MIRT2572247	hsa-miR-1205	CLIP-seq
MIRT2572248	hsa-miR-1228	CLIP-seq
MIRT2572249	hsa-miR-1231	CLIP-seq
MIRT1153793	hsa-miR-1252	CLIP-seq
MIRT2572250	hsa-miR-1278	CLIP-seq
MIRT2572251	hsa-miR-1279	CLIP-seq
MIRT2572252	hsa-miR-1294	CLIP-seq
MIRT1153795	hsa-miR-1321	CLIP-seq
MIRT2572253	hsa-miR-1908	CLIP-seq
MIRT1153798	hsa-miR-1913	CLIP-seq
MIRT2572254	hsa-miR-199a-5p	CLIP-seq
MIRT2572255	hsa-miR-199b-5p	CLIP-seq
MIRT2572256	hsa-miR-19a	CLIP-seq
MIRT2572257	hsa-miR-19b	CLIP-seq
MIRT1153802	hsa-miR-298	CLIP-seq
MIRT2572258	hsa-miR-3117-5p	CLIP-seq
MIRT2572259	hsa-miR-3124-3p	CLIP-seq
MIRT2273394	hsa-miR-3143	CLIP-seq
MIRT2273395	hsa-miR-3153	CLIP-seq
MIRT1153805	hsa-miR-3154	CLIP-seq
MIRT1153808	hsa-miR-3175	CLIP-seq
MIRT1153809	hsa-miR-324-3p	CLIP-seq
MIRT2572260	hsa-miR-342-5p	CLIP-seq
MIRT2572261	hsa-miR-346	CLIP-seq
MIRT2572262	hsa-miR-3920	CLIP-seq
MIRT2273397	hsa-miR-410	CLIP-seq
MIRT2572263	hsa-miR-4255	CLIP-seq
MIRT2572264	hsa-miR-4268	CLIP-seq
MIRT2572265	hsa-miR-4288	CLIP-seq
MIRT2273398	hsa-miR-4289	CLIP-seq
MIRT2572266	hsa-miR-4290	CLIP-seq
MIRT2572267	hsa-miR-4294	CLIP-seq
MIRT2572268	hsa-miR-4418	CLIP-seq
MIRT2572269	hsa-miR-4424	CLIP-seq
MIRT1153823	hsa-miR-4434	CLIP-seq
MIRT2572270	hsa-miR-4448	CLIP-seq
MIRT2572271	hsa-miR-4493	CLIP-seq
MIRT2572272	hsa-miR-4505	CLIP-seq
MIRT1153826	hsa-miR-4516	CLIP-seq
MIRT1153828	hsa-miR-4651	CLIP-seq
MIRT2572273	hsa-miR-4664-5p	CLIP-seq
MIRT2572274	hsa-miR-4666-5p	CLIP-seq
MIRT2572275	hsa-miR-4715-3p	CLIP-seq
MIRT1153837	hsa-miR-4728-5p	CLIP-seq
MIRT1153838	hsa-miR-4739	CLIP-seq
MIRT1153842	hsa-miR-4756-5p	CLIP-seq
MIRT2572276	hsa-miR-4760-3p	CLIP-seq
MIRT2572277	hsa-miR-4762-3p	CLIP-seq
MIRT2572278	hsa-miR-4766-5p	CLIP-seq
MIRT2572279	hsa-miR-509-3-5p	CLIP-seq
MIRT2572280	hsa-miR-509-5p	CLIP-seq
MIRT1153847	hsa-miR-583	CLIP-seq
MIRT1153849	hsa-miR-608	CLIP-seq
MIRT2572281	hsa-miR-632	CLIP-seq
MIRT1153852	hsa-miR-648	CLIP-seq
MIRT2572282	hsa-miR-663	CLIP-seq
MIRT2572283	hsa-miR-720	CLIP-seq
MIRT2572284	hsa-miR-922	CLIP-seq
MIRT2572247	hsa-miR-1205	CLIP-seq
MIRT2572248	hsa-miR-1228	CLIP-seq
MIRT2572249	hsa-miR-1231	CLIP-seq
MIRT1153793	hsa-miR-1252	CLIP-seq
MIRT2572251	hsa-miR-1279	CLIP-seq
MIRT1153795	hsa-miR-1321	CLIP-seq
MIRT2572256	hsa-miR-19a	CLIP-seq
MIRT2572257	hsa-miR-19b	CLIP-seq
MIRT1153802	hsa-miR-298	CLIP-seq
MIRT2572258	hsa-miR-3117-5p	CLIP-seq
MIRT2273394	hsa-miR-3143	CLIP-seq
MIRT2273395	hsa-miR-3153	CLIP-seq
MIRT1153805	hsa-miR-3154	CLIP-seq
MIRT2685155	hsa-miR-3167	CLIP-seq
MIRT1153808	hsa-miR-3175	CLIP-seq
MIRT2572260	hsa-miR-342-5p	CLIP-seq
MIRT2685156	hsa-miR-3925-3p	CLIP-seq
MIRT2273397	hsa-miR-410	CLIP-seq
MIRT2572265	hsa-miR-4288	CLIP-seq
MIRT2273398	hsa-miR-4289	CLIP-seq
MIRT2572268	hsa-miR-4418	CLIP-seq
MIRT2572269	hsa-miR-4424	CLIP-seq
MIRT1153823	hsa-miR-4434	CLIP-seq
MIRT2572272	hsa-miR-4505	CLIP-seq
MIRT1153826	hsa-miR-4516	CLIP-seq
MIRT1153828	hsa-miR-4651	CLIP-seq
MIRT2572273	hsa-miR-4664-5p	CLIP-seq
MIRT2572274	hsa-miR-4666-5p	CLIP-seq
MIRT2572275	hsa-miR-4715-3p	CLIP-seq
MIRT1153837	hsa-miR-4728-5p	CLIP-seq
MIRT1153838	hsa-miR-4739	CLIP-seq
MIRT1153842	hsa-miR-4756-5p	CLIP-seq
MIRT2572276	hsa-miR-4760-3p	CLIP-seq
MIRT2572279	hsa-miR-509-3-5p	CLIP-seq
MIRT2572280	hsa-miR-509-5p	CLIP-seq
MIRT2685157	hsa-miR-515-5p	CLIP-seq
MIRT1153847	hsa-miR-583	CLIP-seq
MIRT1153848	hsa-miR-587	CLIP-seq
MIRT1153849	hsa-miR-608	CLIP-seq
MIRT2572281	hsa-miR-632	CLIP-seq
MIRT2685158	hsa-miR-665	CLIP-seq
MIRT2572283	hsa-miR-720	CLIP-seq
MIRT2685159	hsa-miR-766	CLIP-seq
MIRT2685160	hsa-miR-876-5p	CLIP-seq
MIRT2572284	hsa-miR-922	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001957	Process	Intramembranous ossification	IEA
GO:0005515	Function	Protein binding	IPI	31839203
GO:0005634	Component	Nucleus	IDA	31839203
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0033689	Process	Negative regulation of osteoblast proliferation	IDA	15890672
GO:0070564	Process	Positive regulation of vitamin D receptor signaling pathway	IDA	15890672
GO:1902806	Process	Regulation of cell cycle G1/S phase transition	IDA	15890672

MIM	HGNC	e!Ensembl
156100	7180	ENSG00000169184

Q10571

Protein name

Transcriptional activator MN1 (Probable tumor suppressor protein MN1)

Protein function

Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturat

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues. Highest expression is observed in fetal brain and skeletal muscle, and adult skeletal muscle. {ECO:0000269|PubMed:31839203}.

Sequence

MFGLDQFEPQVNSRNAGQGERNFNETGLSMNTHFKAPAFHTGGPPGPVDPAMSALGEPPI
LGMNMEPYGFHARGHSELHAGGLQAQPVHGFFGGQQPHHGHPGSHHPHQHHPHFGGNFGG
PDPGASCLHGGRLLGYGGAAGGLGSQPPFAEGYEHMAESQGPESFGPQRPGNLPDFHSSG
ASSHAVPAPCLPLDQSPNRAASFHGLPSSSGSDSHSLEPRRVTNQGAVDSLEYNYPGEAP
SGHFDMFSPSDSEGQLPHYAAGRQVPGGAFPGASAMPRAAGMVGLSKMHAQPPQQQPQQQ
QQPQQQQQQHGVFFERFSGARKMPVGLEPSVGSRHPLMQPPQQAPPPPQQQPPQQPPQQQ
PPPPPGLLVRQNSCPPALPRPQQGEAGTPSGGLQDGGPMLPSQHAQFEYPIHRLENRSMH
PYSEPVFSMQHPPPQQAPNQRLQHFDAPPYMNVAKRPRFDFPGSAGVDRCASWNGSMHNG
ALDNHLSPSAYPGLPGEFTPPVPDSFPSGPPLQHPAPDHQSLQQQQQQQQQQQQQQQQQQ
QQQQQQQQQQRQNAALMIKQMASRNQQQRLRQPNLAQLGHPGDVGQGGLVHGGPVGGLAQ
PNFEREGGSTGAGRLGTFEQQAPHLAQESAWFSGPHPPPGDLLPRRMGGSGLPADCGPHD
PSLAPPPPPGGSGVLFRGPLQEPMRMPGEGHVPALPSPGLQFGGSLGGLGQLQSPGAGVG
LPSAASERRPPPPDFATSALGGQPGFPFGAAGRQSTPHSGPGVNSPPSAGGGGGSSGGGG
GGGAYPPQPDFQPSQRTSASKLGALSLGSFNKPSSKDNLFGQSCLAALSTACQNMIASLG
APNLNVTFNKKNPPEGKRKLSQNETDGAAVAGNPGSDYFPGGTAPGAPGPGGPSGTSSSG
SKASGPPNPPAQGDGTSLSPNYTLESTSGNDGKPVSGGGGRGRGRRKRDSGHVSPGTFFD
KYSAAPDSGGAPGVSPGQQQASGAAVGGSSAGETRGAPTPHEKALTSPSWGKGAELLLGD
QPDLIGSLDGGAKSDSSSPNVGEFASDEVSTSYANEDEVSSSSDNPQALVKASRSPLVTG
SPKLPPRGVGAGEHGPKAPPPALGLGIMSNSTSTPDSYGGGGGPGHPGTPGLEQVRTPTS
SSGAPPPDEIHPLEILQAQIQLQRQQFSISEDQPLGLKGGKKGECAVGASGAQNGDSELG
SCCSEAVKSAMSTIDLDSLMAEHSAAWYMPADKALVDSADDDKTLAPWEKAKPQNPNSKE
AHDLPANKASASQPGSHLQCLSVHCTDDVGDAKARASVPTWRSLHSDISNRFGTFVAALT

Sequence length

1320

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CEBALID syndrome	Pathogenic; Likely pathogenic	rs1933308051, rs2146315211, rs2123873148, rs1297805962, rs2517771244, rs2517749386, rs2517749424, rs2517772878, rs891364169, rs761317200, rs1601319615, rs1601319538, rs1601319598, rs1601319584, rs1933378166, rs1932758693 View all (1 more)	RCV001645004 RCV001807966 RCV002273191 RCV002274482 RCV002289107 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MN1 C-terminal truncation (MCTT) syndrome	Likely pathogenic; Pathogenic	rs761317200, rs1601319615, rs1601319538, rs1932758837, rs1932759453, rs1933304057	RCV001258019 RCV001258021 RCV001258024 RCV001258026 RCV001258023 RCV001258018 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs761317200	RCV005912361	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

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.
Atrial septal defect	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chordoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY-RHOMBENCEPHALOSYNAPSIS SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial meningioma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinVar, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL MULTIPLE MENINGIOMA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Benign; other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENINGIOMA, FAMILIAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MN1-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign; other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (54)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	19822134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	19822134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia, minimal differentiation	Myeloid Leukemia	BEFREE	17476096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	26894859, 28960623, 30876455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	31839203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	34417833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	26070530	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	28892045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Palate	Cleft palate	Pubtator	31834374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31133374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	29273914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	31839203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	GENOMICS_ENGLAND_DG	15870292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31839203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	35483876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11094079, 11559848, 12569362, 15870292, 15890672, 18948418, 19344873, 19386590, 19919682, 22436304, 24075189, 25549701, 7731705, 7731706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopia Lentis with Ectopia of Pupil	Ectopia lentis	Pubtator	31902945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial meningioma	Meningioma	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial multiple meningioma	Multiple Meningioma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	28960623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27677590, 33105486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	15870292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25810350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25189868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	15870292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25810350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31834374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	31834374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18632758, 24236197, 31896782, 35483876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	34087176	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	35483876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	18632758, 19451432, 20026798, 21596848, 21828125, 21967978, 23394438, 24326683, 24867525, 27765915, 27983532, 31896782, 31902945, 32862286, 35483876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15334551, 23515710, 27765915, 27983532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	17525718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	19822134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	36464833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	26635082	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Meningioma	Malignant Meningioma	BEFREE	25549701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	9169030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	25549701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly with Mental Retardation and Digital Anomalies	Microcephaly	Pubtator	31834374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidoses	Mucopolysaccharidosis	Pubtator	32886284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11094079, 11559848, 12569362, 15870292, 15890672, 18948418, 19344873, 19386590, 19919682, 22436304, 24075189, 25549701, 7731705, 7731706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	LHGDN	17698380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	7731705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	7731706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	25549701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35810559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	GENOMICS_ENGLAND_DG	15870292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	36124717	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	25810350, 25944382		★★★★★ ★☆☆☆☆ Found in Text Mining only

MN1 (MN1 proto-oncogene, transcriptional regulator)