MCPH1 (microcephalin 1)

Gene

• Entrez ID: 79648
• Gene name: Microcephalin 1
• Gene symbol: MCPH1
• Synonyms (NCBI Gene): BRIT1, MCT
• Chromosome: 8
• Chromosome location: 8p23.1
• Summary: This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal r

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41313952	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs77959215	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs121434305	C>G	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs139607465	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant, intron variant, non coding transcript variant
rs139678787	A>G,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, 5 prime UTR variant, non coding transcript variant
rs183880522	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs192003514	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs199422124	C>G,T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs199422125	->A	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs372450763	A>C,G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs387906961	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs541042265	A>G	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant
rs548329168	C>A,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs572671721	G>C,T	Likely-pathogenic, uncertain-significance	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs587783733	T>C	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs587783735	AT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs587783741	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs727504012	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs748011724	T>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs753597039	->A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs755862917	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs759663956	A>-,AA,AAAAAAA	Pathogenic	Frameshift variant, 5 prime UTR variant, non coding transcript variant, inframe insertion, coding sequence variant
rs1424203921	A>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1427099165	G>A,C	Likely-pathogenic	Missense variant, intron variant, stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1488084787	C>G,T	Pathogenic	Coding sequence variant, missense variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs1554476471	TTA>GTG	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs1554496609	->CA	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017612	hsa-miR-335-5p	Microarray	18185580
MIRT047634	hsa-miR-10a-5p	CLASH	23622248
MIRT046507	hsa-miR-15b-5p	CLASH	23622248
MIRT1137975	hsa-miR-1184	CLIP-seq
MIRT1137976	hsa-miR-1297	CLIP-seq
MIRT1137977	hsa-miR-141	CLIP-seq
MIRT1137978	hsa-miR-200a	CLIP-seq
MIRT1137979	hsa-miR-26a	CLIP-seq
MIRT1137980	hsa-miR-26b	CLIP-seq
MIRT1137981	hsa-miR-329	CLIP-seq
MIRT1137982	hsa-miR-362-3p	CLIP-seq
MIRT1137983	hsa-miR-3689d	CLIP-seq
MIRT1137984	hsa-miR-376a	CLIP-seq
MIRT1137985	hsa-miR-376b	CLIP-seq
MIRT1137986	hsa-miR-3941	CLIP-seq
MIRT1137987	hsa-miR-3977	CLIP-seq
MIRT1137988	hsa-miR-4432	CLIP-seq
MIRT1137989	hsa-miR-4443	CLIP-seq
MIRT1137990	hsa-miR-4465	CLIP-seq
MIRT1137991	hsa-miR-4659a-3p	CLIP-seq
MIRT1137992	hsa-miR-4659b-3p	CLIP-seq
MIRT1137993	hsa-miR-466	CLIP-seq
MIRT1137994	hsa-miR-4672	CLIP-seq
MIRT1137995	hsa-miR-487b	CLIP-seq
MIRT1137996	hsa-miR-498	CLIP-seq
MIRT1137997	hsa-miR-520d-5p	CLIP-seq
MIRT1137998	hsa-miR-524-5p	CLIP-seq
MIRT1137999	hsa-miR-548ae	CLIP-seq
MIRT1138000	hsa-miR-548aj	CLIP-seq
MIRT1138001	hsa-miR-548am	CLIP-seq
MIRT1138002	hsa-miR-548p	CLIP-seq
MIRT1138003	hsa-miR-548x	CLIP-seq
MIRT1138004	hsa-miR-561	CLIP-seq
MIRT1138005	hsa-miR-582-5p	CLIP-seq
MIRT1138006	hsa-miR-603	CLIP-seq
MIRT1138007	hsa-miR-10a	CLIP-seq
MIRT1138008	hsa-miR-10b	CLIP-seq
MIRT1138009	hsa-miR-1227	CLIP-seq
MIRT1138010	hsa-miR-181a	CLIP-seq
MIRT1138011	hsa-miR-181b	CLIP-seq
MIRT1138012	hsa-miR-181c	CLIP-seq
MIRT1138013	hsa-miR-181d	CLIP-seq
MIRT1138014	hsa-miR-25	CLIP-seq
MIRT1138015	hsa-miR-3153	CLIP-seq
MIRT1138016	hsa-miR-32	CLIP-seq
MIRT1138017	hsa-miR-339-5p	CLIP-seq
MIRT1138018	hsa-miR-3607-3p	CLIP-seq
MIRT1138019	hsa-miR-3622a-3p	CLIP-seq
MIRT1138020	hsa-miR-3622b-3p	CLIP-seq
MIRT1138021	hsa-miR-363	CLIP-seq
MIRT1138022	hsa-miR-3660	CLIP-seq
MIRT1138023	hsa-miR-367	CLIP-seq
MIRT1138024	hsa-miR-3670	CLIP-seq
MIRT1138025	hsa-miR-3686	CLIP-seq
MIRT1138026	hsa-miR-3926	CLIP-seq
MIRT1138027	hsa-miR-3937	CLIP-seq
MIRT1138028	hsa-miR-4261	CLIP-seq
MIRT1138029	hsa-miR-4262	CLIP-seq
MIRT1138030	hsa-miR-4275	CLIP-seq
MIRT1138031	hsa-miR-4325	CLIP-seq
MIRT1138032	hsa-miR-4421	CLIP-seq
MIRT1138033	hsa-miR-4526	CLIP-seq
MIRT1138034	hsa-miR-4537	CLIP-seq
MIRT1138035	hsa-miR-4646-5p	CLIP-seq
MIRT1138036	hsa-miR-4668-5p	CLIP-seq
MIRT1138037	hsa-miR-4677-3p	CLIP-seq
MIRT1138038	hsa-miR-4679	CLIP-seq
MIRT1138039	hsa-miR-4684-5p	CLIP-seq
MIRT1138040	hsa-miR-4704-3p	CLIP-seq
MIRT1138041	hsa-miR-4786-5p	CLIP-seq
MIRT1138042	hsa-miR-494	CLIP-seq
MIRT1138043	hsa-miR-508-5p	CLIP-seq
MIRT1138044	hsa-miR-548a-3p	CLIP-seq
MIRT1138045	hsa-miR-548e	CLIP-seq
MIRT1138046	hsa-miR-548f	CLIP-seq
MIRT1138047	hsa-miR-548s	CLIP-seq
MIRT1138048	hsa-miR-593	CLIP-seq
MIRT1138049	hsa-miR-661	CLIP-seq
MIRT1138050	hsa-miR-766	CLIP-seq
MIRT1138051	hsa-miR-769-5p	CLIP-seq
MIRT1138052	hsa-miR-92a	CLIP-seq
MIRT1138053	hsa-miR-92b	CLIP-seq
MIRT1138007	hsa-miR-10a	CLIP-seq
MIRT1138008	hsa-miR-10b	CLIP-seq
MIRT1138010	hsa-miR-181a	CLIP-seq
MIRT1138011	hsa-miR-181b	CLIP-seq
MIRT1138012	hsa-miR-181c	CLIP-seq
MIRT1138013	hsa-miR-181d	CLIP-seq
MIRT2039173	hsa-miR-1827	CLIP-seq
MIRT1138017	hsa-miR-339-5p	CLIP-seq
MIRT1138018	hsa-miR-3607-3p	CLIP-seq
MIRT2039174	hsa-miR-3664-3p	CLIP-seq
MIRT1138025	hsa-miR-3686	CLIP-seq
MIRT2039175	hsa-miR-3921	CLIP-seq
MIRT1138026	hsa-miR-3926	CLIP-seq
MIRT2039176	hsa-miR-3929	CLIP-seq
MIRT1138029	hsa-miR-4262	CLIP-seq
MIRT2039177	hsa-miR-4419b	CLIP-seq
MIRT1138032	hsa-miR-4421	CLIP-seq
MIRT2039178	hsa-miR-4433	CLIP-seq
MIRT2039179	hsa-miR-4459	CLIP-seq
MIRT2039180	hsa-miR-4470	CLIP-seq
MIRT2039181	hsa-miR-4478	CLIP-seq
MIRT2039182	hsa-miR-4511	CLIP-seq
MIRT2039183	hsa-miR-4643	CLIP-seq
MIRT2039184	hsa-miR-4649-3p	CLIP-seq
MIRT2039185	hsa-miR-4653-5p	CLIP-seq
MIRT1138039	hsa-miR-4684-5p	CLIP-seq
MIRT2039186	hsa-miR-4695-5p	CLIP-seq
MIRT2039187	hsa-miR-4717-3p	CLIP-seq
MIRT2039188	hsa-miR-4766-5p	CLIP-seq
MIRT2039189	hsa-miR-4768-3p	CLIP-seq
MIRT2039190	hsa-miR-485-5p	CLIP-seq
MIRT1138042	hsa-miR-494	CLIP-seq
MIRT2039191	hsa-miR-510	CLIP-seq
MIRT2039192	hsa-miR-512-5p	CLIP-seq
MIRT2039193	hsa-miR-548b-3p	CLIP-seq
MIRT1138047	hsa-miR-548s	CLIP-seq
MIRT1138048	hsa-miR-593	CLIP-seq
MIRT1138007	hsa-miR-10a	CLIP-seq
MIRT1138008	hsa-miR-10b	CLIP-seq
MIRT1138009	hsa-miR-1227	CLIP-seq
MIRT2269218	hsa-miR-1236	CLIP-seq
MIRT2269219	hsa-miR-1237	CLIP-seq
MIRT2269220	hsa-miR-1248	CLIP-seq
MIRT2269221	hsa-miR-128	CLIP-seq
MIRT2269222	hsa-miR-140-3p	CLIP-seq
MIRT2039173	hsa-miR-1827	CLIP-seq
MIRT2269223	hsa-miR-197	CLIP-seq
MIRT1138014	hsa-miR-25	CLIP-seq
MIRT2269224	hsa-miR-27a	CLIP-seq
MIRT2269225	hsa-miR-27b	CLIP-seq
MIRT1138015	hsa-miR-3153	CLIP-seq
MIRT2269226	hsa-miR-3192	CLIP-seq
MIRT1138016	hsa-miR-32	CLIP-seq
MIRT1138017	hsa-miR-339-5p	CLIP-seq
MIRT1138021	hsa-miR-363	CLIP-seq
MIRT2039174	hsa-miR-3664-3p	CLIP-seq
MIRT1138023	hsa-miR-367	CLIP-seq
MIRT2269227	hsa-miR-3672	CLIP-seq
MIRT2269228	hsa-miR-3689a-3p	CLIP-seq
MIRT2269229	hsa-miR-3689c	CLIP-seq
MIRT1137983	hsa-miR-3689d	CLIP-seq
MIRT1138026	hsa-miR-3926	CLIP-seq
MIRT2039176	hsa-miR-3929	CLIP-seq
MIRT2269230	hsa-miR-3944-5p	CLIP-seq
MIRT2269231	hsa-miR-412	CLIP-seq
MIRT1138028	hsa-miR-4261	CLIP-seq
MIRT2269232	hsa-miR-4328	CLIP-seq
MIRT2039177	hsa-miR-4419b	CLIP-seq
MIRT1138032	hsa-miR-4421	CLIP-seq
MIRT2039178	hsa-miR-4433	CLIP-seq
MIRT2269233	hsa-miR-4436b-3p	CLIP-seq
MIRT2039179	hsa-miR-4459	CLIP-seq
MIRT2039181	hsa-miR-4478	CLIP-seq
MIRT2269234	hsa-miR-450a	CLIP-seq
MIRT1138034	hsa-miR-4537	CLIP-seq
MIRT1138035	hsa-miR-4646-5p	CLIP-seq
MIRT2039184	hsa-miR-4649-3p	CLIP-seq
MIRT1138036	hsa-miR-4668-5p	CLIP-seq
MIRT1138039	hsa-miR-4684-5p	CLIP-seq
MIRT2039186	hsa-miR-4695-5p	CLIP-seq
MIRT1138040	hsa-miR-4704-3p	CLIP-seq
MIRT2269235	hsa-miR-4728-5p	CLIP-seq
MIRT2269236	hsa-miR-4737	CLIP-seq
MIRT2269237	hsa-miR-4753-3p	CLIP-seq
MIRT2039189	hsa-miR-4768-3p	CLIP-seq
MIRT1138041	hsa-miR-4786-5p	CLIP-seq
MIRT2039190	hsa-miR-485-5p	CLIP-seq
MIRT2269238	hsa-miR-490-3p	CLIP-seq
MIRT1138043	hsa-miR-508-5p	CLIP-seq
MIRT2039191	hsa-miR-510	CLIP-seq
MIRT2039192	hsa-miR-512-5p	CLIP-seq
MIRT2269239	hsa-miR-513a-5p	CLIP-seq
MIRT1138047	hsa-miR-548s	CLIP-seq
MIRT1138048	hsa-miR-593	CLIP-seq
MIRT1138049	hsa-miR-661	CLIP-seq
MIRT1138050	hsa-miR-766	CLIP-seq
MIRT1138051	hsa-miR-769-5p	CLIP-seq
MIRT2269240	hsa-miR-922	CLIP-seq
MIRT1138052	hsa-miR-92a	CLIP-seq
MIRT1138053	hsa-miR-92b	CLIP-seq
MIRT2269241	hsa-miR-942	CLIP-seq
MIRT1138009	hsa-miR-1227	CLIP-seq
MIRT1138014	hsa-miR-25	CLIP-seq
MIRT1138015	hsa-miR-3153	CLIP-seq
MIRT1138016	hsa-miR-32	CLIP-seq
MIRT1138021	hsa-miR-363	CLIP-seq
MIRT1138023	hsa-miR-367	CLIP-seq
MIRT1138028	hsa-miR-4261	CLIP-seq
MIRT1138031	hsa-miR-4325	CLIP-seq
MIRT1138034	hsa-miR-4537	CLIP-seq
MIRT1138035	hsa-miR-4646-5p	CLIP-seq
MIRT1138036	hsa-miR-4668-5p	CLIP-seq
MIRT1138043	hsa-miR-508-5p	CLIP-seq
MIRT1138049	hsa-miR-661	CLIP-seq
MIRT1138050	hsa-miR-766	CLIP-seq
MIRT1138052	hsa-miR-92a	CLIP-seq
MIRT1138053	hsa-miR-92b	CLIP-seq
MIRT2465611	hsa-miR-1264	CLIP-seq
MIRT2465612	hsa-miR-1270	CLIP-seq
MIRT2465613	hsa-miR-3121-3p	CLIP-seq
MIRT2465614	hsa-miR-432	CLIP-seq
MIRT2465615	hsa-miR-4434	CLIP-seq
MIRT2465616	hsa-miR-4516	CLIP-seq
MIRT2465617	hsa-miR-4531	CLIP-seq
MIRT2465618	hsa-miR-539	CLIP-seq
MIRT2465619	hsa-miR-620	CLIP-seq
MIRT1138007	hsa-miR-10a	CLIP-seq
MIRT1138008	hsa-miR-10b	CLIP-seq
MIRT2568482	hsa-miR-1283	CLIP-seq
MIRT2568483	hsa-miR-1286	CLIP-seq
MIRT1138010	hsa-miR-181a	CLIP-seq
MIRT1138011	hsa-miR-181b	CLIP-seq
MIRT1138012	hsa-miR-181c	CLIP-seq
MIRT1138013	hsa-miR-181d	CLIP-seq
MIRT2568484	hsa-miR-2116	CLIP-seq
MIRT2568485	hsa-miR-224	CLIP-seq
MIRT1138017	hsa-miR-339-5p	CLIP-seq
MIRT2568486	hsa-miR-3613-3p	CLIP-seq
MIRT1138019	hsa-miR-3622a-3p	CLIP-seq
MIRT1138020	hsa-miR-3622b-3p	CLIP-seq
MIRT2568487	hsa-miR-3622b-5p	CLIP-seq
MIRT2568488	hsa-miR-3653	CLIP-seq
MIRT2568489	hsa-miR-3658	CLIP-seq
MIRT1138024	hsa-miR-3670	CLIP-seq
MIRT2269227	hsa-miR-3672	CLIP-seq
MIRT2568490	hsa-miR-371-5p	CLIP-seq
MIRT2568491	hsa-miR-371b-5p	CLIP-seq
MIRT1138026	hsa-miR-3926	CLIP-seq
MIRT1138027	hsa-miR-3937	CLIP-seq
MIRT1138029	hsa-miR-4262	CLIP-seq
MIRT1138032	hsa-miR-4421	CLIP-seq
MIRT2269233	hsa-miR-4436b-3p	CLIP-seq
MIRT2039180	hsa-miR-4470	CLIP-seq
MIRT2039182	hsa-miR-4511	CLIP-seq
MIRT2039183	hsa-miR-4643	CLIP-seq
MIRT2568492	hsa-miR-4645-5p	CLIP-seq
MIRT2568493	hsa-miR-4662a-5p	CLIP-seq
MIRT2568494	hsa-miR-4673	CLIP-seq
MIRT2568495	hsa-miR-4676-5p	CLIP-seq
MIRT1138039	hsa-miR-4684-5p	CLIP-seq
MIRT1138040	hsa-miR-4704-3p	CLIP-seq
MIRT2039187	hsa-miR-4717-3p	CLIP-seq
MIRT2568496	hsa-miR-4755-3p	CLIP-seq
MIRT1138041	hsa-miR-4786-5p	CLIP-seq
MIRT1138042	hsa-miR-494	CLIP-seq
MIRT1138044	hsa-miR-548a-3p	CLIP-seq
MIRT2039193	hsa-miR-548b-3p	CLIP-seq
MIRT1138045	hsa-miR-548e	CLIP-seq
MIRT1138046	hsa-miR-548f	CLIP-seq
MIRT1138047	hsa-miR-548s	CLIP-seq
MIRT2568497	hsa-miR-575	CLIP-seq
MIRT1138048	hsa-miR-593	CLIP-seq
MIRT1138051	hsa-miR-769-5p	CLIP-seq
MIRT1138007	hsa-miR-10a	CLIP-seq
MIRT1138008	hsa-miR-10b	CLIP-seq
MIRT2568482	hsa-miR-1283	CLIP-seq
MIRT1138017	hsa-miR-339-5p	CLIP-seq
MIRT2568486	hsa-miR-3613-3p	CLIP-seq
MIRT2568490	hsa-miR-371-5p	CLIP-seq
MIRT2568491	hsa-miR-371b-5p	CLIP-seq
MIRT1138026	hsa-miR-3926	CLIP-seq
MIRT1138032	hsa-miR-4421	CLIP-seq
MIRT2568492	hsa-miR-4645-5p	CLIP-seq
MIRT2568493	hsa-miR-4662a-5p	CLIP-seq
MIRT2568494	hsa-miR-4673	CLIP-seq
MIRT2568495	hsa-miR-4676-5p	CLIP-seq
MIRT1138039	hsa-miR-4684-5p	CLIP-seq
MIRT2568496	hsa-miR-4755-3p	CLIP-seq
MIRT1138041	hsa-miR-4786-5p	CLIP-seq
MIRT1138044	hsa-miR-548a-3p	CLIP-seq
MIRT1138045	hsa-miR-548e	CLIP-seq
MIRT1138046	hsa-miR-548f	CLIP-seq
MIRT1138047	hsa-miR-548s	CLIP-seq
MIRT2568497	hsa-miR-575	CLIP-seq
MIRT1138048	hsa-miR-593	CLIP-seq
MIRT1138051	hsa-miR-769-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Activation	22136275

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	12837246
GO:0000132	Process	Establishment of mitotic spindle orientation	IEA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0005515	Function	Protein binding	IPI	18660752, 19287395, 28514442, 33961781
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0042802	Function	Identical protein binding	IPI	18660752
GO:0046605	Process	Regulation of centrosome cycle	IEA
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0060348	Process	Bone development	IEA
GO:0060623	Process	Regulation of chromosome condensation	IEA
GO:0071539	Process	Protein localization to centrosome	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	IEA

Other IDs

• MIM: 607117
• HGNC: 6954
• e!Ensembl: ENSG00000147316

Protein

• UniProt ID: Q8NEM0
• Protein name: Microcephalin
• Protein function: Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex. {ECO:0000269|PubMed:12046007, ECO:0000269|PubMed:15199523, ECO:0000269|PubMed:152
• PDB: 2WT8, 3KTF, 3PA6, 3SHT, 3SHV, 3SZM, 3T1N, 3U3Z, 7C5D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12738	PTCB-BRCT	9 → 75	twin BRCT domain	Family
  PF12258	Microcephalin	225 → 607	Microcephalin protein	Family
  PF16589	BRCT_2	752 → 832	BRCT domain, a BRCA1 C-terminus domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fetal brain, liver and kidney. {ECO:0000269|PubMed:12046007}.
• Sequence:

  MAAPILKDVVAYVEVWSSNGTENYSKTFTTQLVDMGAKVSKTFNKQVTHVIFKDGYQSTW
  DKAQKRGVKLVSVLWVEKCRTAGAHIDESLFPAANMNEHLSSLIKKKRKCMQPKDFNFKT
  PENDKRFQKKFEKMAKELQRQKTNLDDDVPILLFESNGSLIYTPTIEINSRHHSAMEKRL
  QEMKEKRENLSPTSSQMIQQSHDNPSNSLCEAPLNISRDTLCSDEYFAGGLHSSFDDLCG
  NSGCGNQERKLEGSINDIKSDVCISSLVLKANNIHSSPSFTHLDKSSPQKFLSNLSKEEI
  NLQRNIAGKVVTPDQKQAAGMSQETFEEKYRLSPTLSSTKGHLLIHSRPRSSSVKRKRVS
  HGSHSPPKEKCKRKRSTRRSIMPRLQLCRSEDRLQHVAGPALEALSCGESSYDDYFSPDN
  LKERYSENLPPESQLPSSPAQLSCRSLSKKERTSIFEMSDFSCVGKKTRTVDITNFTAKT
  ISSPRKTGNGEGRATSSCVTSAPEEALRCCRQAGKEDACPEGNGFSYTIEDPALPKGHDD
  DLTPLEGSLEEMKEAVGLKSTQNKGTTSKISNSSEGEAQSEHEPCFIVDCNMETSTEEKE
  NLPGGYSGSVKNRPTRHDVLDDSCDGFKDLIKPHEELKKSGRGKKPTRTLVMTSMPSEKQ
  NVVIQVVDKLKGFSIAPDVCETTTHVLSGKPLRTLNVLLGIARGCWVLSYDWVLWSLELG
  HWISEEPFELSHHFPAAPLCRSECHLSAGPYRGTLFADQPAMFVSPASSPPVAKLCELVH
  LCGGRVSQVPRQASIVIGPYSGKKKATVKYLSEKWVLDSITQHKVCAPENYLLSQ

• Sequence length: 835

Pathways

Reactome:

Condensation of Prophase Chromosomes

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
Abnormal brain morphology	Likely pathogenic; Pathogenic	rs199422125	RCV000454240	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs759663956	RCV001814465	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia	Likely pathogenic	rs201721894	RCV005897388	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive primary microcephaly	Likely pathogenic; Pathogenic	rs587783735, rs2129580766, rs369240170, rs975741762, rs1809107219, rs370842740, rs1171432546, rs1803597889, rs387906961, rs1554496609	RCV003486664 RCV002266534 RCV002283367 RCV003155846 RCV003236285 RCV003331594 RCV003487262 RCV004579623 RCV004586022 RCV001193412	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MCPH1-related disorder	Likely pathogenic	rs557690276	RCV003405802	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly 1, primary, autosomal recessive	Likely pathogenic; Pathogenic	rs745702205, rs759663956, rs2129559817, rs587783741, rs587783735, rs2486061046, rs121434305, rs199422125, rs772838513, rs1803966174, rs1225945960, rs1563216932, rs374636201, rs1205842358, rs753597039, rs1488084787, rs387906961, rs755862917, rs1554471681, rs1554496609, rs748011724, rs201721894, rs1809112398, rs1269068071, rs1803595754, rs774692658	RCV001376016 RCV005040309 RCV001782429 RCV000146324 RCV000146285 RCV002283642 RCV000003618 RCV000003619 RCV003142376 RCV005047759 RCV005047783 RCV005047796 RCV005051388 RCV005040547 RCV000023614 RCV000023615 RCV000023616 RCV000023617 RCV000502619 RCV000500097 RCV001507256 RCV000763602 RCV000778861 RCV001197893 RCV001262166 RCV001269296 RCV001507257	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHATIC MALFORMATION 10	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MICROCEPHALY WITH INTELLECTUAL DISABILITY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Microcephaly, Recessive	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	19925808		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	BEFREE	28858396		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21297427, 32193444	Associate	★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	33094427	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	18636190		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	25301947	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	19793310, 21837366		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	18716609		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	18716609, 22139841, 23575222	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	10677332, 16141009, 17566767, 19925808, 21857152, 24148351, 24560403, 25951892, 27519304, 29693325		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	10677332, 15220350, 16217032, 17220170, 17564965, 17925396, 18664457, 18718915, 19525936, 19549900, 21150325, 22139841, 22952573, 23983231, 24830737, 25197360, 28464862, 29026105, 30303738, 30351297, 30859703, 30964711, 32276518, 32735676, 35281599, 9683597	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal Recessive Primary Microcephaly	Microcephaly	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal Recessive Primary Microcephaly	Microcephaly	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive primary microcephaly	Microcephaly	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28724724		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	23958183		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	30859703	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25263481		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	31112269		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	28927866, 30859703		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26820313	Associate	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG	16217032, 16872911, 19525936, 19549900, 23729656, 25362854, 26820313		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	26820313		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18636190, 20376879, 20632086, 23117476, 23296058, 23729656, 25008867, 25733871, 28191959, 30809794, 31496287		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18635967, 23729656, 26820313, 30809794, 33809336	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	30859703		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24460291, 27929028	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16904606, 17172830, 24830737		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25263481		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29872322		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	21505456, 24830737	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	29860064	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25197360	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21505456, 24830737, 29860064		★☆☆☆☆ Found in Text Mining only
Carnitine-Acylcarnitine Translocase Deficiency	Carnitine-Acylcarnitine Translocase Deficiency	BEFREE	10653336		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	23695280	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25703238		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25492048		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	33094427	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	16872911, 17172830		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	11678351		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	24975899, 28615651		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	20632086		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	21505456, 24830737, 29860064		★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	BEFREE	2310607		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18636190		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	BEFREE	29362961		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30306255	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30031694		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23525442, 29362961, 29969608, 30031694, 30703554, 31060005		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16311745, 19267414, 27197793, 28756000		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	17925396, 18718915, 30500859	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	20632086		★☆☆☆☆ Found in Text Mining only
Isodicentric Chromosome 15 Syndrome	Isodicentric Chromosome 15 Syndrome	BEFREE	19793310		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	21799462		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	GWASCAT_DG	21799462		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	GWASDB_DG	21799462		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25868689		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24460291	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	18636190		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18636190, 20376879, 20632086, 23296058, 23729656, 25008867, 25733871, 28191959, 30809794, 31496287		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	25197360		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29872322		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21505456, 23296058, 23472065		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23908141, 27240355		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25263481		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16872911, 16904606, 17172830, 19034564, 20376879, 21150325, 21698754, 21799462, 23729656, 24560403, 26820313, 27197793, 30306255, 30617815, 31827199		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30617815, 30809794		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	20421449		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	28609557		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	723634		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	BEFREE	24013099		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	24975899, 28615651		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	20080800		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16311745, 19267414, 27197793		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28558739		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	LHGDN	12046007, 16217032		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Microcephaly	BEFREE	15018946, 16211557, 16217032, 16311745, 16687438, 16829198, 17102619, 18204051, 19267414, 21505456, 22240477, 24013099, 24080358, 27197793, 30809794, 30859703		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Microcephaly	Pubtator	16217032, 19215732, 22240477, 22952573, 30809794, 32735676, 33370873, 35281599	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Microcephaly	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly Primary Autosomal Recessive 1	Microcephaly	Pubtator	23983231, 25197360, 30809794, 33370873	Associate	★☆☆☆☆ Found in Text Mining only
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	Microcephaly	UNIPROT_DG	12046007, 15199523, 16211557		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	Microcephaly	BEFREE	15199523, 17102619, 19925808, 20169082, 23472065, 25197360		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	Microcephaly	GENOMICS_ENGLAND_DG	20978018		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	Microcephaly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	Microcephaly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly, Primary Autosomal Recessive, 5	Microcephaly	BEFREE	20978018		★☆☆☆☆ Found in Text Mining only
Multiple endocrine neoplasia Type 2	Multiple Endocrine Neoplasia	BEFREE	723634		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	BEFREE	723634, 779598		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	21934293		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16872911, 17172830, 18636190, 20632086, 20638839, 21505456, 23296058, 23472065, 23729656, 24012639, 24560403, 24830737, 25197360, 25703238, 26722864, 27197793, 28858396, 29860064, 29872322, 30337515, 30809794		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17000864		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	15199523, 15917198, 27197793, 29150431		★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	24975899		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	21799462		★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	18664457		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25578492		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	30859703		★☆☆☆☆ Found in Text Mining only
Osteomalacia	Osteomalacia	BEFREE	28858396		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	23516444, 24560403		★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	BEFREE	23516444		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21505456		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21505456, 22139841	Associate	★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23908141, 27240355		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	27240355		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23908141	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid hyperplasia	Parathyroid hyperplasia	BEFREE	723634		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30754730		★☆☆☆☆ Found in Text Mining only
Primary Graft Dysfunction	Primary graft dysfunction	Pubtator	18727701	Stimulate	★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	BEFREE	12046007, 15917198, 16217032, 16434882, 17102619, 18664457, 21150325, 23516444, 24830737, 25197360, 25845520, 27197793, 28756000, 29026105		★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	30859703		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	30859703	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30031694		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	25197360		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25197360		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	28990934		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	23525442, 25320332		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30260458, 30859703		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	30859703	Associate	★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	BEFREE	16217032		★☆☆☆☆ Found in Text Mining only
Seckel syndrome 1	Seckel syndrome	Pubtator	16217032	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	26205471		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23472065		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only