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	54862
Gene name	Coiled-coil and C2 domain containing 1A
Gene symbol	CC2D1A
Synonyms (NCBI Gene)	Aki-1FREUD-1Freud-1/Aki1Lgd2MRT3TAPE
Chromosome	19
Chromosome location	19p13.12
Summary	This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5`-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34146052	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201177183	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201921029	G>A	Pathogenic, benign, uncertain-significance	Missense variant, coding sequence variant
rs202057391	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign	Missense variant, coding sequence variant
rs541952457	TGGGCAG>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs754855261	C>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs876657679	G>T	Pathogenic	Splice donor variant

106

Show/Hide all (106)

miRTarBase ID	miRNA	Experiments	Reference
MIRT440995	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT440994	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT150380	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT150381	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT440995	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT440994	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT866958	hsa-miR-1255a	CLIP-seq
MIRT866959	hsa-miR-1255b	CLIP-seq
MIRT866960	hsa-miR-1538	CLIP-seq
MIRT866961	hsa-miR-1908	CLIP-seq
MIRT866962	hsa-miR-198	CLIP-seq
MIRT866963	hsa-miR-2467-5p	CLIP-seq
MIRT866964	hsa-miR-3150a-3p	CLIP-seq
MIRT866965	hsa-miR-3170	CLIP-seq
MIRT866966	hsa-miR-3175	CLIP-seq
MIRT866967	hsa-miR-3184	CLIP-seq
MIRT866968	hsa-miR-3194-5p	CLIP-seq
MIRT866969	hsa-miR-331-3p	CLIP-seq
MIRT866970	hsa-miR-342-5p	CLIP-seq
MIRT866971	hsa-miR-423-5p	CLIP-seq
MIRT866972	hsa-miR-4260	CLIP-seq
MIRT866973	hsa-miR-4292	CLIP-seq
MIRT866974	hsa-miR-4302	CLIP-seq
MIRT866975	hsa-miR-4474-3p	CLIP-seq
MIRT866976	hsa-miR-4488	CLIP-seq
MIRT866977	hsa-miR-4492	CLIP-seq
MIRT866978	hsa-miR-4498	CLIP-seq
MIRT866979	hsa-miR-4505	CLIP-seq
MIRT866980	hsa-miR-4508	CLIP-seq
MIRT866981	hsa-miR-4651	CLIP-seq
MIRT866982	hsa-miR-4664-5p	CLIP-seq
MIRT866983	hsa-miR-4667-5p	CLIP-seq
MIRT866984	hsa-miR-4691-3p	CLIP-seq
MIRT866985	hsa-miR-4697-5p	CLIP-seq
MIRT866986	hsa-miR-4700-5p	CLIP-seq
MIRT866987	hsa-miR-4731-5p	CLIP-seq
MIRT866988	hsa-miR-4745-3p	CLIP-seq
MIRT866989	hsa-miR-608	CLIP-seq
MIRT866990	hsa-miR-637	CLIP-seq
MIRT866991	hsa-miR-644	CLIP-seq
MIRT866992	hsa-miR-663	CLIP-seq
MIRT866993	hsa-miR-744	CLIP-seq
MIRT866994	hsa-miR-760	CLIP-seq
MIRT866995	hsa-miR-762	CLIP-seq
MIRT866996	hsa-miR-9	CLIP-seq
MIRT866997	hsa-miR-939	CLIP-seq
MIRT1957287	hsa-miR-1231	CLIP-seq
MIRT1957288	hsa-miR-4288	CLIP-seq
MIRT1957289	hsa-miR-4640-5p	CLIP-seq
MIRT1957290	hsa-miR-4726-5p	CLIP-seq
MIRT1957291	hsa-miR-632	CLIP-seq
MIRT2194262	hsa-miR-1207-3p	CLIP-seq
MIRT2194263	hsa-miR-1262	CLIP-seq
MIRT2194264	hsa-miR-1286	CLIP-seq
MIRT2194265	hsa-miR-1291	CLIP-seq
MIRT2194266	hsa-miR-3144-5p	CLIP-seq
MIRT866964	hsa-miR-3150a-3p	CLIP-seq
MIRT2194267	hsa-miR-3158-3p	CLIP-seq
MIRT866965	hsa-miR-3170	CLIP-seq
MIRT866966	hsa-miR-3175	CLIP-seq
MIRT866967	hsa-miR-3184	CLIP-seq
MIRT2194268	hsa-miR-3191	CLIP-seq
MIRT866969	hsa-miR-331-3p	CLIP-seq
MIRT866970	hsa-miR-342-5p	CLIP-seq
MIRT2194269	hsa-miR-3928	CLIP-seq
MIRT866971	hsa-miR-423-5p	CLIP-seq
MIRT866972	hsa-miR-4260	CLIP-seq
MIRT866973	hsa-miR-4292	CLIP-seq
MIRT2194270	hsa-miR-4459	CLIP-seq
MIRT866979	hsa-miR-4505	CLIP-seq
MIRT1957289	hsa-miR-4640-5p	CLIP-seq
MIRT2194271	hsa-miR-4650-5p	CLIP-seq
MIRT866981	hsa-miR-4651	CLIP-seq
MIRT2194272	hsa-miR-4652-5p	CLIP-seq
MIRT866982	hsa-miR-4664-5p	CLIP-seq
MIRT866983	hsa-miR-4667-5p	CLIP-seq
MIRT2194273	hsa-miR-4688	CLIP-seq
MIRT866986	hsa-miR-4700-5p	CLIP-seq
MIRT2194274	hsa-miR-4701-3p	CLIP-seq
MIRT2194275	hsa-miR-4710	CLIP-seq
MIRT2194276	hsa-miR-4721	CLIP-seq
MIRT2194277	hsa-miR-4722-5p	CLIP-seq
MIRT1957290	hsa-miR-4726-5p	CLIP-seq
MIRT866987	hsa-miR-4731-5p	CLIP-seq
MIRT2194278	hsa-miR-4779	CLIP-seq
MIRT866989	hsa-miR-608	CLIP-seq
MIRT2194279	hsa-miR-661	CLIP-seq
MIRT2194280	hsa-miR-711	CLIP-seq
MIRT866996	hsa-miR-9	CLIP-seq
MIRT866997	hsa-miR-939	CLIP-seq
MIRT2194265	hsa-miR-1291	CLIP-seq
MIRT2194266	hsa-miR-3144-5p	CLIP-seq
MIRT866964	hsa-miR-3150a-3p	CLIP-seq
MIRT866966	hsa-miR-3175	CLIP-seq
MIRT2194268	hsa-miR-3191	CLIP-seq
MIRT2385595	hsa-miR-328	CLIP-seq
MIRT2194269	hsa-miR-3928	CLIP-seq
MIRT866973	hsa-miR-4292	CLIP-seq
MIRT866979	hsa-miR-4505	CLIP-seq
MIRT2194272	hsa-miR-4652-5p	CLIP-seq
MIRT866983	hsa-miR-4667-5p	CLIP-seq
MIRT866986	hsa-miR-4700-5p	CLIP-seq
MIRT2385596	hsa-miR-4716-5p	CLIP-seq
MIRT866987	hsa-miR-4731-5p	CLIP-seq
MIRT2194280	hsa-miR-711	CLIP-seq
MIRT866997	hsa-miR-939	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	12917378
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	12917378
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0002087	Process	Regulation of respiratory gaseous exchange by nervous system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16730941, 26496610, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007032	Process	Endosome organization	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0036064	Component	Ciliary basal body	IDA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	HMP	12761501
GO:0043576	Process	Regulation of respiratory gaseous exchange	IEA
GO:0045202	Component	Synapse	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0140059	Process	Dendrite arborization	IEA
GO:0150023	Process	Apical dendrite arborization	IEA
GO:0150052	Process	Regulation of postsynapse assembly	IEA
GO:1905381	Process	Negative regulation of snRNA transcription by RNA polymerase II	IDA	12917378

MIM	HGNC	e!Ensembl
610055	30237	ENSG00000132024

Q6P1N0

Protein name

Coiled-coil and C2 domain-containing protein 1A (Akt kinase-interacting protein 1) (Five prime repressor element under dual repression-binding protein 1) (FRE under dual repression-binding protein 1) (Freud-1) (Putative NF-kappa-B-activating protein 023N)

Protein function

Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the a

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	655 → 772	C2 domain	Domain

Sequence

MHKRKGPPGPPGRGAAAARQLGLLVDLSPDGLMIPEDGANDEELEAEFLALVGGQPPALE
KLKGKGPLPMEAIEKMASLCMRDPDEDEEEGTDEDDLEADDDLLAELNEVLGEEQKASET
PPPVAQPKPEAPHPGLETTLQERLALYQTAIESARQAGDSAKMRRYDRGLKTLENLLASI
RKGNAIDEADIPPPVAIGKGPASTPTYSPAPTQPAPRIASAPEPRVTLEGPSATAPASSP
GLAKPQMPPGPCSPGPLAQLQSRQRDYKLAALHAKQQGDTTAAARHFRVAKSFDAVLEAL
SRGEPVDLSCLPPPPDQLPPDPPSPPSQPPTPATAPSTTEVPPPPRTLLEALEQRMERYQ
VAAAQAKSKGDQRKARMHERIVKQYQDAIRAHKAGRAVDVAELPVPPGFPPIQGLEATKP
TQQSLVGVLETAMKLANQDEGPEDEEDEVPKKQNSPVAPTAQPKAPPSRTPQSGSAPTAK
APPKATSTRAQQQLAFLEGRKKQLLQAALRAKQKNDVEGAKMHLRQAKGLEPMLEASRNG
LPVDITKVPPAPVNKDDFALVQRPGPGLSQEAARRYGELTKLIRQQHEMCLNHSNQFTQL
GNITETTKFEKLAEDCKRSMDILKQAFVRGLPTPTARFEQRTFSVIKIFPDLSSNDMLLF
IVKGINLPTPPGLSPGDLDVFVRFDFPYPNVEEAQKDKTSVIKNTDSPEFKEQFKLCINR
SHRGFRRAIQTKGIKFEVVHKGGLFKTDRVLGTAQLKLDALEIACEVREILEVLDGRRPT
GGRLEVMVRIREPLTAQQLETTTERWLVIDPVPAAVPTQVAGPKGKAPPVPAPARESGNR
SARPLHSLSVLAFDQERLERKILALRQARRPVPPEVAQQYQDIMQRSQWQRAQLEQGGVG
IRREYAAQLERQLQFYTEAARRLGNDGSRDAAKEALYRRNLVESELQRLRR

Sequence length

951

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive non-syndromic intellectual disability	Pathogenic	rs779620838	RCV002272954	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs200450636	RCV005931856	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic	rs1971662595	RCV005930045	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal recessive 3	Pathogenic; Likely pathogenic	rs2145350143, rs777057767, rs200450636, rs2513094283, rs1970938126, rs2513147217, rs2513150660, rs1971392241, rs1423002835	RCV001780452 RCV001780723 RCV002509834 RCV005030130 RCV005030173 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (21)

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.
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CC2D1A-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 3	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREMATURE OVARIAN FAILURE 19	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Smith-Magenis Syndrome-like	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (53)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29101244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29101244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26782176, 30732858, 31721010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	26782176, 31721010		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma of lung	Lung carcinoma	BEFREE	23045273, 25036909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31632917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	34580524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30992372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29101244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	17394259, 30992372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16033914, 16987873, 17394259, 17714190, 18387594, 18446860, 21273312, 22023432, 22375002, 26782176, 27914010		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	LHGDN	16033914, 17394259		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	16033914, 20529849, 22419660, 27914010, 30500859, 34580524	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Kidney Failure, Acute	Kidney Failure	BEFREE	27862029, 28717377, 29433841, 29473104, 29735786, 29940876, 30523243, 31332896, 31796077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	20026183, 20392296		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	20392296		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	BEFREE	23045273, 25036909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31632917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25036909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29101244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16033914, 16987873, 17394259, 17714190, 18387594, 18446860, 21273312, 22023432, 22375002, 26782176		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3	Mental retardation	GENOMICS_ENGLAND_DG	16033914		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3	Mental retardation	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3	Mental retardation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31632917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22328058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26826102		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31632917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25036909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	30732858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	20026183, 20392296		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	20392296		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CC2D1A (coiled-coil and C2 domain containing 1A)