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	27443
Gene name	CECR2 histone acetyl-lysine reader
Gene symbol	CECR2
Synonyms (NCBI Gene)	-
Chromosome	22
Chromosome location	22q11.1-q11.21
Summary	This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This g

253

Show/Hide all (253)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048371	hsa-miR-29b-3p	CLASH	23622248
MIRT043615	hsa-miR-151a-3p	CLASH	23622248
MIRT041997	hsa-miR-484	CLASH	23622248
MIRT036153	hsa-miR-1296-5p	CLASH	23622248
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	20371350
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	20371350
MIRT514008	hsa-miR-3665	PAR-CLIP	20371350
MIRT514006	hsa-miR-6081	PAR-CLIP	20371350
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	20371350
MIRT514005	hsa-miR-4651	PAR-CLIP	20371350
MIRT514004	hsa-miR-608	PAR-CLIP	20371350
MIRT514003	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT514002	hsa-miR-6745	PAR-CLIP	20371350
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT514012	hsa-miR-3936	PAR-CLIP	20371350
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	20371350
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	20371350
MIRT514009	hsa-miR-3160-3p	PAR-CLIP	20371350
MIRT514008	hsa-miR-3665	PAR-CLIP	20371350
MIRT514006	hsa-miR-6081	PAR-CLIP	20371350
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	20371350
MIRT514005	hsa-miR-4651	PAR-CLIP	20371350
MIRT514004	hsa-miR-608	PAR-CLIP	20371350
MIRT514003	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT514002	hsa-miR-6745	PAR-CLIP	20371350
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT538583	hsa-miR-520e	PAR-CLIP	22012620
MIRT538582	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT538581	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT538580	hsa-miR-302e	PAR-CLIP	22012620
MIRT538579	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT538578	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT538577	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT538576	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT538575	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT538574	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT538573	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT538572	hsa-miR-520b	PAR-CLIP	22012620
MIRT538571	hsa-miR-4311	PAR-CLIP	22012620
MIRT538570	hsa-miR-890	PAR-CLIP	22012620
MIRT538569	hsa-miR-3125	PAR-CLIP	22012620
MIRT538568	hsa-miR-3916	PAR-CLIP	22012620
MIRT538567	hsa-miR-6859-5p	PAR-CLIP	22012620
MIRT538566	hsa-miR-3614-5p	PAR-CLIP	22012620
MIRT538565	hsa-miR-520g-5p	PAR-CLIP	22012620
MIRT538564	hsa-miR-1253	PAR-CLIP	22012620
MIRT538563	hsa-miR-766-5p	PAR-CLIP	22012620
MIRT538562	hsa-miR-877-5p	PAR-CLIP	22012620
MIRT538561	hsa-miR-3978	PAR-CLIP	22012620
MIRT538560	hsa-miR-4271	PAR-CLIP	22012620
MIRT514012	hsa-miR-3936	PAR-CLIP	23446348
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	23446348
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	23446348
MIRT514009	hsa-miR-3160-3p	PAR-CLIP	23446348
MIRT514008	hsa-miR-3665	PAR-CLIP	23446348
MIRT514006	hsa-miR-6081	PAR-CLIP	23446348
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	23446348
MIRT514005	hsa-miR-4651	PAR-CLIP	23446348
MIRT514004	hsa-miR-608	PAR-CLIP	23446348
MIRT514003	hsa-miR-363-5p	PAR-CLIP	23446348
MIRT514002	hsa-miR-6745	PAR-CLIP	23446348
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	23446348
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	26701625
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	26701625
MIRT514003	hsa-miR-363-5p	PAR-CLIP	26701625
MIRT514003	hsa-miR-363-5p	PAR-CLIP	26701625
MIRT514008	hsa-miR-3665	PAR-CLIP	26701625
MIRT514008	hsa-miR-3665	PAR-CLIP	26701625
MIRT514012	hsa-miR-3936	PAR-CLIP	26701625
MIRT514012	hsa-miR-3936	PAR-CLIP	26701625
MIRT514005	hsa-miR-4651	PAR-CLIP	26701625
MIRT514005	hsa-miR-4651	PAR-CLIP	26701625
MIRT514006	hsa-miR-6081	PAR-CLIP	26701625
MIRT514006	hsa-miR-6081	PAR-CLIP	26701625
MIRT514004	hsa-miR-608	PAR-CLIP	26701625
MIRT514004	hsa-miR-608	PAR-CLIP	26701625
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	26701625
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	26701625
MIRT514002	hsa-miR-6745	PAR-CLIP	26701625
MIRT514002	hsa-miR-6745	PAR-CLIP	26701625
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	26701625
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	26701625
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	26701625
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	26701625
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	27292025
MIRT514003	hsa-miR-363-5p	PAR-CLIP	27292025
MIRT514008	hsa-miR-3665	PAR-CLIP	27292025
MIRT514012	hsa-miR-3936	PAR-CLIP	27292025
MIRT514005	hsa-miR-4651	PAR-CLIP	27292025
MIRT514006	hsa-miR-6081	PAR-CLIP	27292025
MIRT514004	hsa-miR-608	PAR-CLIP	27292025
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	27292025
MIRT514002	hsa-miR-6745	PAR-CLIP	27292025
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	27292025
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	27292025
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	20371350
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	20371350
MIRT514008	hsa-miR-3665	PAR-CLIP	20371350
MIRT514006	hsa-miR-6081	PAR-CLIP	20371350
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	20371350
MIRT514005	hsa-miR-4651	PAR-CLIP	20371350
MIRT514004	hsa-miR-608	PAR-CLIP	20371350
MIRT514003	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT514002	hsa-miR-6745	PAR-CLIP	20371350
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT514012	hsa-miR-3936	PAR-CLIP	20371350
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	20371350
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	20371350
MIRT514009	hsa-miR-3160-3p	PAR-CLIP	20371350
MIRT514008	hsa-miR-3665	PAR-CLIP	20371350
MIRT514006	hsa-miR-6081	PAR-CLIP	20371350
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	20371350
MIRT514005	hsa-miR-4651	PAR-CLIP	20371350
MIRT514004	hsa-miR-608	PAR-CLIP	20371350
MIRT514003	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT514002	hsa-miR-6745	PAR-CLIP	20371350
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT538583	hsa-miR-520e	PAR-CLIP	22012620
MIRT538582	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT538581	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT538580	hsa-miR-302e	PAR-CLIP	22012620
MIRT538579	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT538578	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT538577	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT538576	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT538575	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT538574	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT538573	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT538572	hsa-miR-520b	PAR-CLIP	22012620
MIRT538571	hsa-miR-4311	PAR-CLIP	22012620
MIRT538570	hsa-miR-890	PAR-CLIP	22012620
MIRT538569	hsa-miR-3125	PAR-CLIP	22012620
MIRT538568	hsa-miR-3916	PAR-CLIP	22012620
MIRT538567	hsa-miR-6859-5p	PAR-CLIP	22012620
MIRT538566	hsa-miR-3614-5p	PAR-CLIP	22012620
MIRT538565	hsa-miR-520g-5p	PAR-CLIP	22012620
MIRT538564	hsa-miR-1253	PAR-CLIP	22012620
MIRT538563	hsa-miR-766-5p	PAR-CLIP	22012620
MIRT538562	hsa-miR-877-5p	PAR-CLIP	22012620
MIRT538561	hsa-miR-3978	PAR-CLIP	22012620
MIRT538560	hsa-miR-4271	PAR-CLIP	22012620
MIRT514012	hsa-miR-3936	PAR-CLIP	23446348
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	23446348
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	23446348
MIRT514009	hsa-miR-3160-3p	PAR-CLIP	23446348
MIRT514008	hsa-miR-3665	PAR-CLIP	23446348
MIRT514006	hsa-miR-6081	PAR-CLIP	23446348
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	23446348
MIRT514005	hsa-miR-4651	PAR-CLIP	23446348
MIRT514004	hsa-miR-608	PAR-CLIP	23446348
MIRT514003	hsa-miR-363-5p	PAR-CLIP	23446348
MIRT514002	hsa-miR-6745	PAR-CLIP	23446348
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	23446348
MIRT883477	hsa-miR-1258	CLIP-seq
MIRT883478	hsa-miR-125a-5p	CLIP-seq
MIRT883479	hsa-miR-125b	CLIP-seq
MIRT883480	hsa-miR-1321	CLIP-seq
MIRT883481	hsa-miR-181a	CLIP-seq
MIRT883482	hsa-miR-181b	CLIP-seq
MIRT883483	hsa-miR-181c	CLIP-seq
MIRT883484	hsa-miR-181d	CLIP-seq
MIRT883485	hsa-miR-1825	CLIP-seq
MIRT883486	hsa-miR-197	CLIP-seq
MIRT883487	hsa-miR-199a-5p	CLIP-seq
MIRT883488	hsa-miR-199b-5p	CLIP-seq
MIRT883489	hsa-miR-200b	CLIP-seq
MIRT883490	hsa-miR-200c	CLIP-seq
MIRT883491	hsa-miR-2114	CLIP-seq
MIRT883492	hsa-miR-2278	CLIP-seq
MIRT883493	hsa-miR-3065-5p	CLIP-seq
MIRT883494	hsa-miR-3117-3p	CLIP-seq
MIRT883495	hsa-miR-338-5p	CLIP-seq
MIRT883496	hsa-miR-346	CLIP-seq
MIRT883497	hsa-miR-34b	CLIP-seq
MIRT883498	hsa-miR-3660	CLIP-seq
MIRT883499	hsa-miR-374c	CLIP-seq
MIRT883500	hsa-miR-3924	CLIP-seq
MIRT883501	hsa-miR-3925-3p	CLIP-seq
MIRT883502	hsa-miR-4262	CLIP-seq
MIRT883503	hsa-miR-4267	CLIP-seq
MIRT883504	hsa-miR-4270	CLIP-seq
MIRT883505	hsa-miR-4274	CLIP-seq
MIRT883506	hsa-miR-429	CLIP-seq
MIRT883507	hsa-miR-4319	CLIP-seq
MIRT883508	hsa-miR-4441	CLIP-seq
MIRT883509	hsa-miR-4446-5p	CLIP-seq
MIRT883510	hsa-miR-4526	CLIP-seq
MIRT883511	hsa-miR-4659a-3p	CLIP-seq
MIRT883512	hsa-miR-4659b-3p	CLIP-seq
MIRT883513	hsa-miR-4677-3p	CLIP-seq
MIRT883514	hsa-miR-4679	CLIP-seq
MIRT883515	hsa-miR-4732-3p	CLIP-seq
MIRT883516	hsa-miR-4739	CLIP-seq
MIRT883517	hsa-miR-4755-5p	CLIP-seq
MIRT883518	hsa-miR-4756-5p	CLIP-seq
MIRT883519	hsa-miR-483-3p	CLIP-seq
MIRT883520	hsa-miR-508-5p	CLIP-seq
MIRT883521	hsa-miR-512-3p	CLIP-seq
MIRT883522	hsa-miR-548aa	CLIP-seq
MIRT883523	hsa-miR-548c-3p	CLIP-seq
MIRT883524	hsa-miR-548t	CLIP-seq
MIRT883525	hsa-miR-577	CLIP-seq
MIRT883526	hsa-miR-622	CLIP-seq
MIRT883527	hsa-miR-655	CLIP-seq
MIRT883528	hsa-miR-670	CLIP-seq
MIRT883529	hsa-miR-711	CLIP-seq
MIRT1961974	hsa-miR-1200	CLIP-seq
MIRT1961975	hsa-miR-1244	CLIP-seq
MIRT1961976	hsa-miR-127-5p	CLIP-seq
MIRT883480	hsa-miR-1321	CLIP-seq
MIRT1961977	hsa-miR-138	CLIP-seq
MIRT1961978	hsa-miR-1976	CLIP-seq
MIRT883492	hsa-miR-2278	CLIP-seq
MIRT1961979	hsa-miR-3158-3p	CLIP-seq
MIRT1961980	hsa-miR-3179	CLIP-seq
MIRT1961981	hsa-miR-3202	CLIP-seq
MIRT1961982	hsa-miR-325	CLIP-seq
MIRT883496	hsa-miR-346	CLIP-seq
MIRT883498	hsa-miR-3660	CLIP-seq
MIRT1961983	hsa-miR-3688-5p	CLIP-seq
MIRT1961984	hsa-miR-3934	CLIP-seq
MIRT883503	hsa-miR-4267	CLIP-seq
MIRT883504	hsa-miR-4270	CLIP-seq
MIRT883505	hsa-miR-4274	CLIP-seq
MIRT1961985	hsa-miR-4278	CLIP-seq
MIRT1961986	hsa-miR-4324	CLIP-seq
MIRT883508	hsa-miR-4441	CLIP-seq
MIRT1961987	hsa-miR-4446-3p	CLIP-seq
MIRT1961988	hsa-miR-4456	CLIP-seq
MIRT1961989	hsa-miR-4470	CLIP-seq
MIRT1961990	hsa-miR-4474-5p	CLIP-seq
MIRT1961991	hsa-miR-4476	CLIP-seq
MIRT1961992	hsa-miR-4481	CLIP-seq
MIRT1961993	hsa-miR-4492	CLIP-seq
MIRT1961994	hsa-miR-4498	CLIP-seq
MIRT883510	hsa-miR-4526	CLIP-seq
MIRT1961995	hsa-miR-4733-3p	CLIP-seq
MIRT883516	hsa-miR-4739	CLIP-seq
MIRT1961996	hsa-miR-4745-5p	CLIP-seq
MIRT883518	hsa-miR-4756-5p	CLIP-seq
MIRT1961997	hsa-miR-4798-5p	CLIP-seq
MIRT1961998	hsa-miR-544b	CLIP-seq
MIRT1961999	hsa-miR-552	CLIP-seq
MIRT1962000	hsa-miR-564	CLIP-seq
MIRT883526	hsa-miR-622	CLIP-seq
MIRT1962001	hsa-miR-628-3p	CLIP-seq
MIRT1962002	hsa-miR-762	CLIP-seq
MIRT1962003	hsa-miR-764	CLIP-seq
MIRT1961984	hsa-miR-3934	CLIP-seq
MIRT1961985	hsa-miR-4278	CLIP-seq
MIRT1961995	hsa-miR-4733-3p	CLIP-seq
MIRT1961999	hsa-miR-552	CLIP-seq
MIRT1962003	hsa-miR-764	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000791	Component	Euchromatin	IEA
GO:0001842	Process	Neural fold formation	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0005515	Function	Protein binding	IPI	12762840
GO:0005634	Component	Nucleus	IDA	12762840, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0006309	Process	Apoptotic DNA fragmentation	TAS	12762840
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IDA	15640247
GO:0006338	Process	Chromatin remodeling	IEA
GO:0007010	Process	Cytoskeleton organization	NAS	11827465
GO:0007338	Process	Single fertilization	IBA
GO:0007338	Process	Single fertilization	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	11827465
GO:0021915	Process	Neural tube development	IEA
GO:0031010	Component	ISWI-type complex	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0061640	Process	Cytoskeleton-dependent cytokinesis	NAS	11827465
GO:0090102	Process	Cochlea development	IEA
GO:0090537	Component	CERF complex	IBA
GO:0090537	Component	CERF complex	IDA	15640247
GO:0090537	Component	CERF complex	IEA
GO:0090537	Component	CERF complex	IPI	15640247
GO:0097194	Process	Execution phase of apoptosis	IDA	12762840
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IDA	15640247

MIM	HGNC	e!Ensembl
607576	1840	ENSG00000099954

Q9BXF3

Protein name

Chromatin remodeling regulator CECR2 (Cat eye syndrome critical region protein 2)

Protein function

Regulatory subunit of the ATP-dependent CERF-1 and CERF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription,

PDB

3NXB , 5V84 , 8RU1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00439	Bromodomain	443 → 526	Bromodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in skeletal muscle, thymus, placenta and lung. Expressed at lower level in brain, heart, colon, spleen, kidney.

Sequence

MCPEEGGAAGLGELRSWWEVPAIAHFCSLFRTAFRLPDFEIEELEAALHRDDVEFISDLI
ACLLQGCYQRRDITPQTFHSYLEDIINYRWELEEGKPNPLREASFQDLPLRTRVEILHRL
CDYRLDADDVFDLLKGLDADSLRVEPLGEDNSGALYWYFYGTRMYKEDPVQGKSNGELSL
SRESEGQKNVSSIPGKTGKRRGRPPKRKKLQEEILLSEKQEENSLASEPQTRHGSQGPGQ
GTWWLLCQTEEEWRQVTESFRERTSLRERQLYKLLSEDFLPEICNMIAQKGKRPQRTKAE
LHPRWMSDHLSIKPVKQEETPVLTRIEKQKRKEEEEERQILLAVQKKEQEQMLKEERKRE
LEEKVKAVEGMCSVRVVWRGACLSTSRPVDRAKRRKLREERAWLLAQGKELPPELSHLDP
NSPMREEKKTKDLFELDDDFTAMYKVLDVVKAHKDSWPFLEPVDESYAPNYYQIIKAPMD
ISSMEKKLNGGLYCTKEEFVNDMKTMFRNCRKYNGESSEYTKMSDNLERCFHRAMMKHFP
GEDGDTDEEFWIREDEKREKRRSRAGRSGGSHVWTRSRDPEGSSRKQQPMENGGKSLPPT
RRAPSSGDDQSSSSTQPPREVGTSNGRGFSHPLHCGGTPSQAPFLNQMRPAVPGTFGPLR
GSDPATLYGSSGVPEPHPGEPVQQRQPFTMQPPVGINSLRGPRLGTPEEKQMCGGLTHLS
NMGPHPGSLQLGQISGPSQDGSMYAPAQFQPGFIPPRHGGAPARPPDFPESSEIPPSHMY
RSYKYLNRVHSAVWNGNHGATNQGPLGPDEKPHLGPGPSHQPRTLGHVMDSRVMRPPVPP
NQWTEQSGFLPHGVPSSGYMRPPCKSAGHRLQPPPVPAPSSLFGAPAQALRGVQGGDSMM
DSPEMIAMQQLSSRVCPPGVPYHPHQPAHPRLPGPFPQVAHPMSVTVSAPKPALGNPGRA
PENSEAQEPENDQAEPLPGLEEKPPGVGTSEGVYLTQLPHPTPPLQTDCTRQSSPQERET
VGPELKSSSSESADNCKAMKGKNPWPSDSSYPGPAAQGCVRDLSTVADRGALSENGVIGE
ASPCGSEGKGLGSSGSEKLLCPRGRTLQETMPCTGQNAATPPSTDPGLTGGTVSQFPPLY
MPGLEYPNSAAHYHISPGLQGVGPVMGGKSPASHPQHFPPRGFQSNHPHSGGFPRYRPPQ
GMRYSYHPPPQPSYHHYQRTPYYACPQSFSDWQRPLHPQGSPSGPPASQPPPPRSLFSDK
NAMASLQGCETLNAALTSPTRMDAVAAKVPNDGQNPGPEEEKLDESMERPESPKEFLDLD
NHNAATKRQSSLSASEYLYGTPPPLSSGMGFGSSAFPPHSVMLQTGPPYTPQRPASHFQP
RAYSSPVAALPPHHPGATQPNGLSQEGPIYRCQEEGLGHFQAVMMEQIGTRSGIRGPFQE
MYRPSGMQMHPVQSQASFPKTPTAATSQEEVPPHKPPTLPLDQS

Sequence length

1484

Interactions

View interactions

	KEGG
	ATP-dependent chromatin remodeling

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 (15)

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.
CECR2-related neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC KETOACIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECT, FOLATE-SENSITIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS X-LINKED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acrania	Acrania	CTD_human_DG	15640247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus Imperforate	Imperforate anus	Pubtator	22395867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cat eye syndrome	Cat Eye Syndrome	BEFREE	16915592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	CTD_human_DG	15640247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastematomyelia	Diastematomyelia	CTD_human_DG	15640247		★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	16915592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	CTD_human_DG	15640247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	BEFREE	17623803, 21246654, 22045912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iniencephaly	Anencephaly	CTD_human_DG	15640247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	CTD_human_DG	15640247		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	BEFREE	17623803, 21246654, 22045912, 27768235		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurenteric Cyst	Neurenteric Cyst	CTD_human_DG	15640247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	16915592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Cord Myelodysplasia	Spinal Cord Myelodysplasia	CTD_human_DG	15640247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	CTD_human_DG	15640247		★★★★★ ★☆☆☆☆ Found in Text Mining only

CECR2 (CECR2 histone acetyl-lysine reader)