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	400916
Gene name	Coiled-coil-helix-coiled-coil-helix domain containing 10
Gene symbol	CHCHD10
Synonyms (NCBI Gene)	C22orf16FTDALS2IMMDMIX17AN27C7-4SMAJ
Chromosome	22
Chromosome location	22q11.23
Summary	This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyo

154

Show/Hide all (154)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050245	hsa-miR-25-3p	CLASH	23622248
MIRT048969	hsa-miR-92a-3p	CLASH	23622248
MIRT043230	hsa-miR-324-5p	CLASH	23622248
MIRT041543	hsa-miR-193b-3p	CLASH	23622248
MIRT888576	hsa-miR-1225-5p	CLIP-seq
MIRT888577	hsa-miR-1286	CLIP-seq
MIRT888578	hsa-miR-149	CLIP-seq
MIRT888579	hsa-miR-193a-3p	CLIP-seq
MIRT888580	hsa-miR-193b	CLIP-seq
MIRT888581	hsa-miR-25	CLIP-seq
MIRT888582	hsa-miR-302f	CLIP-seq
MIRT888583	hsa-miR-3064-5p	CLIP-seq
MIRT888584	hsa-miR-3126-3p	CLIP-seq
MIRT888585	hsa-miR-3132	CLIP-seq
MIRT888586	hsa-miR-3151	CLIP-seq
MIRT888587	hsa-miR-3169	CLIP-seq
MIRT888588	hsa-miR-32	CLIP-seq
MIRT888589	hsa-miR-342-5p	CLIP-seq
MIRT888590	hsa-miR-363	CLIP-seq
MIRT888591	hsa-miR-367	CLIP-seq
MIRT888592	hsa-miR-3940-5p	CLIP-seq
MIRT888593	hsa-miR-4285	CLIP-seq
MIRT888594	hsa-miR-4299	CLIP-seq
MIRT888595	hsa-miR-431	CLIP-seq
MIRT888596	hsa-miR-4447	CLIP-seq
MIRT888597	hsa-miR-4451	CLIP-seq
MIRT888598	hsa-miR-4456	CLIP-seq
MIRT888599	hsa-miR-4472	CLIP-seq
MIRT888600	hsa-miR-4507	CLIP-seq
MIRT888601	hsa-miR-4515	CLIP-seq
MIRT888602	hsa-miR-4527	CLIP-seq
MIRT888603	hsa-miR-4651	CLIP-seq
MIRT888604	hsa-miR-4664-5p	CLIP-seq
MIRT888605	hsa-miR-4687-3p	CLIP-seq
MIRT888606	hsa-miR-4694-5p	CLIP-seq
MIRT888607	hsa-miR-4711-3p	CLIP-seq
MIRT888608	hsa-miR-4722-5p	CLIP-seq
MIRT888609	hsa-miR-4794	CLIP-seq
MIRT888610	hsa-miR-491-5p	CLIP-seq
MIRT888611	hsa-miR-539	CLIP-seq
MIRT888612	hsa-miR-548q	CLIP-seq
MIRT888613	hsa-miR-592	CLIP-seq
MIRT888614	hsa-miR-599	CLIP-seq
MIRT888615	hsa-miR-601	CLIP-seq
MIRT888616	hsa-miR-608	CLIP-seq
MIRT888617	hsa-miR-635	CLIP-seq
MIRT888618	hsa-miR-92a	CLIP-seq
MIRT888619	hsa-miR-92b	CLIP-seq
MIRT888577	hsa-miR-1286	CLIP-seq
MIRT888578	hsa-miR-149	CLIP-seq
MIRT888579	hsa-miR-193a-3p	CLIP-seq
MIRT888580	hsa-miR-193b	CLIP-seq
MIRT888583	hsa-miR-3064-5p	CLIP-seq
MIRT888585	hsa-miR-3132	CLIP-seq
MIRT888587	hsa-miR-3169	CLIP-seq
MIRT888593	hsa-miR-4285	CLIP-seq
MIRT888597	hsa-miR-4451	CLIP-seq
MIRT888601	hsa-miR-4515	CLIP-seq
MIRT888602	hsa-miR-4527	CLIP-seq
MIRT888605	hsa-miR-4687-3p	CLIP-seq
MIRT888608	hsa-miR-4722-5p	CLIP-seq
MIRT888609	hsa-miR-4794	CLIP-seq
MIRT888576	hsa-miR-1225-5p	CLIP-seq
MIRT888578	hsa-miR-149	CLIP-seq
MIRT888581	hsa-miR-25	CLIP-seq
MIRT888582	hsa-miR-302f	CLIP-seq
MIRT888583	hsa-miR-3064-5p	CLIP-seq
MIRT888584	hsa-miR-3126-3p	CLIP-seq
MIRT888586	hsa-miR-3151	CLIP-seq
MIRT888588	hsa-miR-32	CLIP-seq
MIRT888589	hsa-miR-342-5p	CLIP-seq
MIRT888590	hsa-miR-363	CLIP-seq
MIRT888591	hsa-miR-367	CLIP-seq
MIRT888592	hsa-miR-3940-5p	CLIP-seq
MIRT888593	hsa-miR-4285	CLIP-seq
MIRT888594	hsa-miR-4299	CLIP-seq
MIRT888595	hsa-miR-431	CLIP-seq
MIRT888596	hsa-miR-4447	CLIP-seq
MIRT888598	hsa-miR-4456	CLIP-seq
MIRT888599	hsa-miR-4472	CLIP-seq
MIRT888600	hsa-miR-4507	CLIP-seq
MIRT888602	hsa-miR-4527	CLIP-seq
MIRT888603	hsa-miR-4651	CLIP-seq
MIRT888604	hsa-miR-4664-5p	CLIP-seq
MIRT888605	hsa-miR-4687-3p	CLIP-seq
MIRT888606	hsa-miR-4694-5p	CLIP-seq
MIRT888607	hsa-miR-4711-3p	CLIP-seq
MIRT888609	hsa-miR-4794	CLIP-seq
MIRT888610	hsa-miR-491-5p	CLIP-seq
MIRT888611	hsa-miR-539	CLIP-seq
MIRT888612	hsa-miR-548q	CLIP-seq
MIRT888613	hsa-miR-592	CLIP-seq
MIRT888614	hsa-miR-599	CLIP-seq
MIRT888616	hsa-miR-608	CLIP-seq
MIRT888617	hsa-miR-635	CLIP-seq
MIRT888618	hsa-miR-92a	CLIP-seq
MIRT888619	hsa-miR-92b	CLIP-seq
MIRT888576	hsa-miR-1225-5p	CLIP-seq
MIRT888577	hsa-miR-1286	CLIP-seq
MIRT888578	hsa-miR-149	CLIP-seq
MIRT888579	hsa-miR-193a-3p	CLIP-seq
MIRT888580	hsa-miR-193b	CLIP-seq
MIRT888581	hsa-miR-25	CLIP-seq
MIRT888582	hsa-miR-302f	CLIP-seq
MIRT888583	hsa-miR-3064-5p	CLIP-seq
MIRT888584	hsa-miR-3126-3p	CLIP-seq
MIRT888585	hsa-miR-3132	CLIP-seq
MIRT888586	hsa-miR-3151	CLIP-seq
MIRT888587	hsa-miR-3169	CLIP-seq
MIRT888588	hsa-miR-32	CLIP-seq
MIRT888589	hsa-miR-342-5p	CLIP-seq
MIRT888590	hsa-miR-363	CLIP-seq
MIRT888591	hsa-miR-367	CLIP-seq
MIRT888592	hsa-miR-3940-5p	CLIP-seq
MIRT888593	hsa-miR-4285	CLIP-seq
MIRT888594	hsa-miR-4299	CLIP-seq
MIRT888595	hsa-miR-431	CLIP-seq
MIRT888596	hsa-miR-4447	CLIP-seq
MIRT888597	hsa-miR-4451	CLIP-seq
MIRT888598	hsa-miR-4456	CLIP-seq
MIRT888599	hsa-miR-4472	CLIP-seq
MIRT888600	hsa-miR-4507	CLIP-seq
MIRT888601	hsa-miR-4515	CLIP-seq
MIRT888602	hsa-miR-4527	CLIP-seq
MIRT888603	hsa-miR-4651	CLIP-seq
MIRT888604	hsa-miR-4664-5p	CLIP-seq
MIRT888605	hsa-miR-4687-3p	CLIP-seq
MIRT888606	hsa-miR-4694-5p	CLIP-seq
MIRT888607	hsa-miR-4711-3p	CLIP-seq
MIRT888608	hsa-miR-4722-5p	CLIP-seq
MIRT888609	hsa-miR-4794	CLIP-seq
MIRT888610	hsa-miR-491-5p	CLIP-seq
MIRT888611	hsa-miR-539	CLIP-seq
MIRT888612	hsa-miR-548q	CLIP-seq
MIRT888613	hsa-miR-592	CLIP-seq
MIRT888614	hsa-miR-599	CLIP-seq
MIRT888615	hsa-miR-601	CLIP-seq
MIRT888616	hsa-miR-608	CLIP-seq
MIRT888617	hsa-miR-635	CLIP-seq
MIRT888618	hsa-miR-92a	CLIP-seq
MIRT888619	hsa-miR-92b	CLIP-seq
MIRT888576	hsa-miR-1225-5p	CLIP-seq
MIRT888584	hsa-miR-3126-3p	CLIP-seq
MIRT888585	hsa-miR-3132	CLIP-seq
MIRT888592	hsa-miR-3940-5p	CLIP-seq
MIRT888593	hsa-miR-4285	CLIP-seq
MIRT888595	hsa-miR-431	CLIP-seq
MIRT888597	hsa-miR-4451	CLIP-seq
MIRT888600	hsa-miR-4507	CLIP-seq
MIRT888602	hsa-miR-4527	CLIP-seq
MIRT888607	hsa-miR-4711-3p	CLIP-seq
MIRT888613	hsa-miR-592	CLIP-seq
MIRT888614	hsa-miR-599	CLIP-seq
MIRT888617	hsa-miR-635	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	26666268, 27499296, 30496485, 30530185
GO:0005634	Component	Nucleus	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	20888800
GO:0005739	Component	Mitochondrion	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IDA	24934289
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0007005	Process	Mitochondrion organization	IBA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	IMP	20888800
GO:0007006	Process	Mitochondrial membrane organization	ISS
GO:0007007	Process	Inner mitochondrial membrane organization	IMP	24934289, 26666268, 30092269
GO:0030322	Process	Stabilization of membrane potential	IEA
GO:0031930	Process	Mitochondria-nucleus signaling pathway	IEA
GO:0051457	Process	Maintenance of protein location in nucleus	IEA
GO:0061617	Component	MICOS complex	IDA	26666268
GO:0099558	Process	Maintenance of synapse structure	IEA
GO:1903109	Process	Positive regulation of mitochondrial transcription	IEA

MIM	HGNC	e!Ensembl
615903	15559	ENSG00000250479

Q8WYQ3

Protein name

Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial (Protein N27C7-4)

Protein function

May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06747	CHCH	102 → 134	CHCH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Higher expression is observed in heart and liver. {ECO:0000269|PubMed:24934289}.

Sequence

MPRGSRSAASRPASRPAAPSAHPPAHPPPSAAAPAPAPSGQPGLMAQMATTAAGVAVGSA
VGHVMGSALTGAFSGGSSEPSQPAVQQAPTPAAPQPLQMGPCAYEIRQFLDCSTTQSDLS
LCEGFSEALKQCKYYHGLSSLP

Sequence length

142

Interactions

View interactions

	KEGG
	Amyotrophic lateral sclerosis

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
Autosomal dominant mitochondrial myopathy with exercise intolerance	Pathogenic; Likely pathogenic	rs2145927350, rs587777574, rs730880030, rs730880031, rs730880033	RCV002037768 RCV000192232 RCV000804540 RCV001731148 RCV002285151	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Pathogenic; Likely pathogenic	rs2145927350, rs587777574, rs730880030	RCV002037768 RCV000128857 RCV000804540	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lower motor neuron syndrome with late-adult onset	Pathogenic; Likely pathogenic	rs2145927350, rs730880030, rs730880031	RCV002037768 RCV000804540 RCV000157070	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

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.
Amyotrophic lateral sclerosis	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHCHD10-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, JOKELA TYPE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ 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 (83)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	28069311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	24934289, 25155093, 25726362, 26344877, 27056076, 27077676, 27095681, 27578015, 27631878, 28069311, 28318595, 29121267, 30014597, 30084972, 30874923, 31690696 View all (1 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	24934289, 25726362, 28069311, 29121267, 29519717, 29789341, 30014597, 30084972, 32437855	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	25113787, 25113788, 25155093, 25261971, 25261972, 25348631, 25348633		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	27056076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	33749723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis With Dementia	Amyotrophic Lateral Sclerosis With Dementia	BEFREE	25155093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	27095681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant mitochondrial myopathy with exercise intolerance	Mitochondrial Myopathy With Exercise Intolerance	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	26999347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30877432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract Nuclear Progressive	Congenital cataract	Pubtator	29540477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	30014597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	25726362, 27578015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	25726362	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia of frontal lobe type	Dementia Of Frontal Lobe	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyscalculia	Dyscalculia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	24934289, 25155093, 25726362, 26344877, 27578015, 27631878, 28069311, 28462717, 29121267, 31526091, 31690696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	24934289, 25726362, 26344877, 28069311, 28749476, 29121267, 29519717, 30084972, 38320749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2	Frontotemporal Dementia With Or Without Amyotrophic Lateral Sclerosis	UNIPROT_DG	24934289, 25155093		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2	Frontotemporal Dementia With Or Without Amyotrophic Lateral Sclerosis	CLINVAR_DG	25113787, 25261972, 25576308, 25681414, 25833818, 26152333, 28585542, 29121267, 29315381, 29789341		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2	Frontotemporal Dementia With Or Without Amyotrophic Lateral Sclerosis	GENOMICS_ENGLAND_DG	25193783		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2	Frontotemporal Dementia With Or Without Amyotrophic Lateral Sclerosis	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal Dementia With Motor Neuron Disease	BEFREE	24934289, 25428574, 26666268, 28318595, 28585542, 30092269		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal Dementia With Motor Neuron Disease	ORPHANET_DG	24934289		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia with motor neuron disease	Frontotemporal Dementia With Motor Neuron Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	25726362	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	26666268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	26666268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	29789341, 30084972, 32437855, 33749723, 38320749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lower motor neuron syndrome with late-adult onset	Distal hereditary motor neuronopathy	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	24934289, 30014597		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24934289, 26666268, 29121267, 30014597, 30092269, 33749723	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	25193783, 27631878, 29519717, 30874923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	25193783, 29519717	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	27631878, 30874923, 30877432, 31526091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	30092269, 32437855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	30092269, 30293881, 32437855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	26999347, 29112723, 30014597		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT	Mitochondrial Myopathy	GENOMICS_ENGLAND_DG	24934289, 25193783		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT	Mitochondrial Myopathy	CLINVAR_DG	24934289, 25113787, 25261972, 25681414, 25833818, 26152333, 28585542, 29121267, 29315381, 29789341		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT	Mitochondrial Myopathy	ORPHANET_DG	25193783		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT	Mitochondrial Myopathy	UNIPROT_DG	25193783		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT	Mitochondrial Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	27095681, 31526091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29540477, 30293881	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28069311, 28108040, 28685009, 29519717, 30791515, 30874923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	26224640, 31261376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28069311, 28108040, 29029963, 29112723, 30530185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	28069311, 29029963, 29519717, 30084972, 30530185, 32437855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	26666268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	24934289, 25155093, 26344877, 28462717, 29121267, 31690696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	25726362, 27578015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	25193783	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	27631878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINAL MUSCULAR ATROPHY, JOKELA TYPE	Spinal Muscular Atrophy	CLINVAR_DG	25113787, 25261972, 25428574, 25681414, 25833818, 26152333, 28585542, 29121267, 29315381, 29789341		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, JOKELA TYPE	Spinal Muscular Atrophy	GENOMICS_ENGLAND_DG	25193783, 25428574		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, JOKELA TYPE	Spinal Muscular Atrophy	ORPHANET_DG	25428574		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, JOKELA TYPE	Spinal Muscular Atrophy	UNIPROT_DG	25428574		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, JOKELA TYPE	Spinal Muscular Atrophy	BEFREE	26666268		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, JOKELA TYPE	Spinal Muscular Atrophy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10)