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	55005
Gene name	Required for meiotic nuclear division 1 homolog
Gene symbol	RMND1
Synonyms (NCBI Gene)	C6orf96COXPD11RMD1bA351K16bA351K16.3
Chromosome	6
Chromosome location	6q25.1
Summary	The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs115079861	C>G,T	Benign, pathogenic	Non coding transcript variant, stop lost, terminator codon variant, synonymous variant
rs142521318	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs144972972	T>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs370863743	G>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs397515421	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs606231472	C>A	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs759477396	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs763658299	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs771894262	C>G,T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs773470671	C>T	Pathogenic	Splice donor variant
rs886037771	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886037772	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs886037773	C>A,G	Pathogenic	Splice donor variant
rs1057519299	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice acceptor variant
rs1427212110	CAGA>-	Likely-pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs1554340243	A>G	Likely-pathogenic	Stop lost, terminator codon variant, non coding transcript variant
rs1562800908	C>T	Pathogenic	Splice donor variant, intron variant
rs1582957532	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1582970514	C>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant, intron variant

195

Show/Hide all (195)

miRTarBase ID	miRNA	Experiments	Reference
MIRT681418	hsa-miR-106a-5p	HITS-CLIP	23706177
MIRT681417	hsa-miR-106b-5p	HITS-CLIP	23706177
MIRT681416	hsa-miR-17-5p	HITS-CLIP	23706177
MIRT681415	hsa-miR-20a-5p	HITS-CLIP	23706177
MIRT681414	hsa-miR-20b-5p	HITS-CLIP	23706177
MIRT681413	hsa-miR-519d-3p	HITS-CLIP	23706177
MIRT681412	hsa-miR-526b-3p	HITS-CLIP	23706177
MIRT681411	hsa-miR-93-5p	HITS-CLIP	23706177
MIRT681410	hsa-miR-302a-3p	HITS-CLIP	23706177
MIRT681409	hsa-miR-302b-3p	HITS-CLIP	23706177
MIRT681408	hsa-miR-302c-3p	HITS-CLIP	23706177
MIRT681407	hsa-miR-302d-3p	HITS-CLIP	23706177
MIRT681406	hsa-miR-302e	HITS-CLIP	23706177
MIRT681405	hsa-miR-372-3p	HITS-CLIP	23706177
MIRT681404	hsa-miR-373-3p	HITS-CLIP	23706177
MIRT681403	hsa-miR-520a-3p	HITS-CLIP	23706177
MIRT681402	hsa-miR-520b	HITS-CLIP	23706177
MIRT681401	hsa-miR-520c-3p	HITS-CLIP	23706177
MIRT681400	hsa-miR-520d-3p	HITS-CLIP	23706177
MIRT681399	hsa-miR-520e	HITS-CLIP	23706177
MIRT681398	hsa-miR-4438	HITS-CLIP	23706177
MIRT681397	hsa-miR-512-3p	HITS-CLIP	23706177
MIRT681396	hsa-miR-6504-3p	HITS-CLIP	23706177
MIRT681395	hsa-miR-619-5p	HITS-CLIP	23706177
MIRT681394	hsa-miR-6506-5p	HITS-CLIP	23706177
MIRT681393	hsa-miR-1827	HITS-CLIP	23706177
MIRT681392	hsa-miR-4731-5p	HITS-CLIP	23706177
MIRT681391	hsa-miR-5589-5p	HITS-CLIP	23706177
MIRT681390	hsa-miR-5095	HITS-CLIP	23706177
MIRT681389	hsa-miR-7151-3p	HITS-CLIP	23706177
MIRT681388	hsa-miR-5089-5p	HITS-CLIP	23706177
MIRT681387	hsa-miR-6806-5p	HITS-CLIP	23706177
MIRT681418	hsa-miR-106a-5p	HITS-CLIP	23706177
MIRT681417	hsa-miR-106b-5p	HITS-CLIP	23706177
MIRT681416	hsa-miR-17-5p	HITS-CLIP	23706177
MIRT681415	hsa-miR-20a-5p	HITS-CLIP	23706177
MIRT681414	hsa-miR-20b-5p	HITS-CLIP	23706177
MIRT681413	hsa-miR-519d-3p	HITS-CLIP	23706177
MIRT681412	hsa-miR-526b-3p	HITS-CLIP	23706177
MIRT681411	hsa-miR-93-5p	HITS-CLIP	23706177
MIRT681410	hsa-miR-302a-3p	HITS-CLIP	23706177
MIRT681409	hsa-miR-302b-3p	HITS-CLIP	23706177
MIRT681408	hsa-miR-302c-3p	HITS-CLIP	23706177
MIRT681407	hsa-miR-302d-3p	HITS-CLIP	23706177
MIRT681406	hsa-miR-302e	HITS-CLIP	23706177
MIRT681405	hsa-miR-372-3p	HITS-CLIP	23706177
MIRT681404	hsa-miR-373-3p	HITS-CLIP	23706177
MIRT681403	hsa-miR-520a-3p	HITS-CLIP	23706177
MIRT681402	hsa-miR-520b	HITS-CLIP	23706177
MIRT681401	hsa-miR-520c-3p	HITS-CLIP	23706177
MIRT681400	hsa-miR-520d-3p	HITS-CLIP	23706177
MIRT681399	hsa-miR-520e	HITS-CLIP	23706177
MIRT681398	hsa-miR-4438	HITS-CLIP	23706177
MIRT681397	hsa-miR-512-3p	HITS-CLIP	23706177
MIRT681396	hsa-miR-6504-3p	HITS-CLIP	23706177
MIRT681395	hsa-miR-619-5p	HITS-CLIP	23706177
MIRT681394	hsa-miR-6506-5p	HITS-CLIP	23706177
MIRT681393	hsa-miR-1827	HITS-CLIP	23706177
MIRT681392	hsa-miR-4731-5p	HITS-CLIP	23706177
MIRT681391	hsa-miR-5589-5p	HITS-CLIP	23706177
MIRT681390	hsa-miR-5095	HITS-CLIP	23706177
MIRT681389	hsa-miR-7151-3p	HITS-CLIP	23706177
MIRT681388	hsa-miR-5089-5p	HITS-CLIP	23706177
MIRT681387	hsa-miR-6806-5p	HITS-CLIP	23706177
MIRT1308329	hsa-miR-1200	CLIP-seq
MIRT1308330	hsa-miR-1227	CLIP-seq
MIRT1308331	hsa-miR-1228	CLIP-seq
MIRT1308332	hsa-miR-1268	CLIP-seq
MIRT1308333	hsa-miR-1268b	CLIP-seq
MIRT1308334	hsa-miR-1273f	CLIP-seq
MIRT1308335	hsa-miR-143	CLIP-seq
MIRT1308336	hsa-miR-1976	CLIP-seq
MIRT1308337	hsa-miR-329	CLIP-seq
MIRT1308338	hsa-miR-362-3p	CLIP-seq
MIRT1308339	hsa-miR-4279	CLIP-seq
MIRT1308340	hsa-miR-4324	CLIP-seq
MIRT1308341	hsa-miR-4708-5p	CLIP-seq
MIRT1308342	hsa-miR-4722-3p	CLIP-seq
MIRT1308343	hsa-miR-4729	CLIP-seq
MIRT1308344	hsa-miR-4770	CLIP-seq
MIRT1308345	hsa-miR-4794	CLIP-seq
MIRT1308346	hsa-miR-544b	CLIP-seq
MIRT1553114	hsa-miR-197	CLIP-seq
MIRT1553115	hsa-miR-3170	CLIP-seq
MIRT1553116	hsa-miR-3187-3p	CLIP-seq
MIRT1553117	hsa-miR-431	CLIP-seq
MIRT1553118	hsa-miR-4435	CLIP-seq
MIRT1553119	hsa-miR-4701-5p	CLIP-seq
MIRT1553120	hsa-miR-4716-5p	CLIP-seq
MIRT1553121	hsa-miR-4755-3p	CLIP-seq
MIRT1553122	hsa-miR-4781-3p	CLIP-seq
MIRT1553123	hsa-miR-5096	CLIP-seq
MIRT1553124	hsa-miR-511	CLIP-seq
MIRT1553125	hsa-miR-548s	CLIP-seq
MIRT1553126	hsa-miR-588	CLIP-seq
MIRT1308329	hsa-miR-1200	CLIP-seq
MIRT2091445	hsa-miR-122	CLIP-seq
MIRT1308334	hsa-miR-1273f	CLIP-seq
MIRT2091446	hsa-miR-1281	CLIP-seq
MIRT1308335	hsa-miR-143	CLIP-seq
MIRT2091447	hsa-miR-150	CLIP-seq
MIRT1308336	hsa-miR-1976	CLIP-seq
MIRT2091448	hsa-miR-3064-5p	CLIP-seq
MIRT2091449	hsa-miR-3135b	CLIP-seq
MIRT2091450	hsa-miR-335	CLIP-seq
MIRT2091451	hsa-miR-3650	CLIP-seq
MIRT2091452	hsa-miR-3652	CLIP-seq
MIRT1308339	hsa-miR-4279	CLIP-seq
MIRT1308340	hsa-miR-4324	CLIP-seq
MIRT2091453	hsa-miR-4430	CLIP-seq
MIRT2091454	hsa-miR-4505	CLIP-seq
MIRT1308341	hsa-miR-4708-5p	CLIP-seq
MIRT1308342	hsa-miR-4722-3p	CLIP-seq
MIRT1308344	hsa-miR-4770	CLIP-seq
MIRT2091455	hsa-miR-4772-3p	CLIP-seq
MIRT1308346	hsa-miR-544b	CLIP-seq
MIRT2091445	hsa-miR-122	CLIP-seq
MIRT2316057	hsa-miR-1248	CLIP-seq
MIRT2091446	hsa-miR-1281	CLIP-seq
MIRT2316058	hsa-miR-146b-3p	CLIP-seq
MIRT2091447	hsa-miR-150	CLIP-seq
MIRT2091448	hsa-miR-3064-5p	CLIP-seq
MIRT2091449	hsa-miR-3135b	CLIP-seq
MIRT2316059	hsa-miR-3157-3p	CLIP-seq
MIRT2316060	hsa-miR-3173-5p	CLIP-seq
MIRT2091450	hsa-miR-335	CLIP-seq
MIRT2091451	hsa-miR-3650	CLIP-seq
MIRT2091452	hsa-miR-3652	CLIP-seq
MIRT2316061	hsa-miR-4423-5p	CLIP-seq
MIRT2091453	hsa-miR-4430	CLIP-seq
MIRT2091454	hsa-miR-4505	CLIP-seq
MIRT2316062	hsa-miR-4757-5p	CLIP-seq
MIRT2091455	hsa-miR-4772-3p	CLIP-seq
MIRT2316063	hsa-miR-874	CLIP-seq
MIRT2091446	hsa-miR-1281	CLIP-seq
MIRT2091447	hsa-miR-150	CLIP-seq
MIRT2091450	hsa-miR-335	CLIP-seq
MIRT1308329	hsa-miR-1200	CLIP-seq
MIRT2612093	hsa-miR-1208	CLIP-seq
MIRT2091445	hsa-miR-122	CLIP-seq
MIRT1308334	hsa-miR-1273f	CLIP-seq
MIRT2091446	hsa-miR-1281	CLIP-seq
MIRT1308335	hsa-miR-143	CLIP-seq
MIRT2316058	hsa-miR-146b-3p	CLIP-seq
MIRT2091447	hsa-miR-150	CLIP-seq
MIRT1308336	hsa-miR-1976	CLIP-seq
MIRT2091448	hsa-miR-3064-5p	CLIP-seq
MIRT2091449	hsa-miR-3135b	CLIP-seq
MIRT2316059	hsa-miR-3157-3p	CLIP-seq
MIRT2316060	hsa-miR-3173-5p	CLIP-seq
MIRT2091450	hsa-miR-335	CLIP-seq
MIRT2091451	hsa-miR-3650	CLIP-seq
MIRT2091452	hsa-miR-3652	CLIP-seq
MIRT1308339	hsa-miR-4279	CLIP-seq
MIRT1308340	hsa-miR-4324	CLIP-seq
MIRT2316061	hsa-miR-4423-5p	CLIP-seq
MIRT2091453	hsa-miR-4430	CLIP-seq
MIRT2091454	hsa-miR-4505	CLIP-seq
MIRT1308341	hsa-miR-4708-5p	CLIP-seq
MIRT1308342	hsa-miR-4722-3p	CLIP-seq
MIRT1308344	hsa-miR-4770	CLIP-seq
MIRT2091455	hsa-miR-4772-3p	CLIP-seq
MIRT1308346	hsa-miR-544b	CLIP-seq
MIRT2612094	hsa-miR-627	CLIP-seq
MIRT2316063	hsa-miR-874	CLIP-seq
MIRT2612095	hsa-miR-924	CLIP-seq
MIRT1308329	hsa-miR-1200	CLIP-seq
MIRT2612093	hsa-miR-1208	CLIP-seq
MIRT2091445	hsa-miR-122	CLIP-seq
MIRT1308334	hsa-miR-1273f	CLIP-seq
MIRT2091446	hsa-miR-1281	CLIP-seq
MIRT1308335	hsa-miR-143	CLIP-seq
MIRT2316058	hsa-miR-146b-3p	CLIP-seq
MIRT2091447	hsa-miR-150	CLIP-seq
MIRT1308336	hsa-miR-1976	CLIP-seq
MIRT2091448	hsa-miR-3064-5p	CLIP-seq
MIRT2091449	hsa-miR-3135b	CLIP-seq
MIRT2316059	hsa-miR-3157-3p	CLIP-seq
MIRT2316060	hsa-miR-3173-5p	CLIP-seq
MIRT2091450	hsa-miR-335	CLIP-seq
MIRT2091451	hsa-miR-3650	CLIP-seq
MIRT2091452	hsa-miR-3652	CLIP-seq
MIRT1308339	hsa-miR-4279	CLIP-seq
MIRT1308340	hsa-miR-4324	CLIP-seq
MIRT2316061	hsa-miR-4423-5p	CLIP-seq
MIRT2091453	hsa-miR-4430	CLIP-seq
MIRT2091454	hsa-miR-4505	CLIP-seq
MIRT1308341	hsa-miR-4708-5p	CLIP-seq
MIRT1308342	hsa-miR-4722-3p	CLIP-seq
MIRT1308344	hsa-miR-4770	CLIP-seq
MIRT2091455	hsa-miR-4772-3p	CLIP-seq
MIRT1308346	hsa-miR-544b	CLIP-seq
MIRT2612094	hsa-miR-627	CLIP-seq
MIRT2316063	hsa-miR-874	CLIP-seq
MIRT2612095	hsa-miR-924	CLIP-seq

Show/Hide all (7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 32814053, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	25604853
GO:0005739	Component	Mitochondrion	IEA
GO:0006412	Process	Translation	IEA
GO:0070131	Process	Positive regulation of mitochondrial translation	IBA
GO:0070131	Process	Positive regulation of mitochondrial translation	IDA	25604853

MIM	HGNC	e!Ensembl
614917	21176	ENSG00000155906

Q9NWS8

Protein name

Required for meiotic nuclear division protein 1 homolog

Protein function

Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome (PubMed:23022098, PubMed:25604853).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02582	DUF155	226 → 403	Uncharacterised ACR, YagE family COG1723	Family

Sequence

MPATLLRAVARSHHILSKAHQCRRIGHLMLKPLKEFENTTCSTLTIRQSLDLFLPDKTAS
GLNKSQILEMNQKKSDTSMLSPLNAARCQDEKAHLPTMKSFGTHRRVTHKPNLLGSKWFI
KILKRHFSSVSTETFVPKQDFPQVKRPLKASRTRQPSRTNLPVLSVNEDLMHCTAFATAD
EYHLGNLSQDLASHGYVEVTSLPRDAANILVMGVENSAKEGDPGTIFFFREGAAVFWNVK
DKTMKHVMKVLEKHEIQPYEIALVHWENEELNYIKIEGQSKLHRGEIKLNSELDLDDAIL
EKFAFSNALCLSVKLAIWEASLDKFIESIQSIPEALKAGKKVKLSHEEVMQKIGELFALR
HRINLSSDFLITPDFYWDRENLEGLYDKTCQFLSIGRRVKVMNEKLQHCMELTDLMRNHL
NEKRALRLEWMIVILITIEVMFELGRVFF

Sequence length

449

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 (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs1562800908	RCV001814019	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined oxidative phosphorylation defect type 11	Likely pathogenic; Pathogenic	rs763077801, rs769890347, rs144647126, rs115079861, rs144972972, rs606231472, rs370863743, rs771894262, rs767876357, rs759477396, rs1057519299, rs763658299, rs1562800908, rs397515421, rs1582970514, rs1582957532, rs1780213490 View all (2 more)	RCV001391119 RCV002503495 RCV006249780 RCV000132559 RCV000415572 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Pathogenic	rs773470671	RCV005893882	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs1562800908	RCV005888874	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial disease	Likely pathogenic; Pathogenic	rs115079861, rs144972972, rs886037773, rs886037771, rs773470671, rs771894262, rs886037772, rs370863743, rs397515421	RCV000240835 RCV000240809 RCV000240834 RCV000240823 RCV000240838 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial oxidative phosphorylation disorder	Pathogenic	rs144972972	RCV000826150	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Pathogenic	rs144972972, rs1780336606	RCV001328257 RCV001328258	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

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.
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME TYPE 1	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME TYPE 2	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RMND1-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XX GONADAL DYSGENESIS-DEAFNESS SYNDROME-PROGRESSIVE NEUROLOGICAL MANIFESTATIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (56)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acidosis Lactic	Lactic acidosis	Pubtator	25604853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	9653644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	23022098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25370037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	29915430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21552322	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	25058219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27350610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined oxidative phosphorylation defect type 11	Combined Oxidative Phosphorylation Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Combined Oxidative Phosphorylation Deficiency 1	Combined oxidative phosphorylation deficiency	Pubtator	32911714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11	Combined Oxidative Phosphorylation Deficiency	ORPHANET_DG	23022098, 23022099		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	23022098, 23022099, 25604853, 26238252		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	23022099, 25058219, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11	Combined Oxidative Phosphorylation Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital lactic acidosis	Congenital lactic acidosis	BEFREE	25604853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	27843092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	25058219, 25604853, 27350610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	25604853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	18835491, 23022098, 23022099, 25058219, 25604853, 26238252, 26395190, 27412952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	23022098, 26395190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal dysgenesis XX type deafness	Gonadal dysgenesis	Pubtator	32911714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	25604853, 32911714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism	Hypoaldosteronism	Pubtator	37450011	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	25604853, 26395190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	27350610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	27843092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	27843092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	8104536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25370037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	29915430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	29915430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	29915430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	29915430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Complex II Deficiency	Mitochondrial complex deficiency	Pubtator	31568715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	23022098, 27350610, 31568715, 37450011	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	CLINVAR_DG	27412952		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	31568715		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple System Atrophy	Multiple system atrophy	Pubtator	32911714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	31237926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	9628820, 9653644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30601066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Dysautonomias	Dysautonomia	Pubtator	25604853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	37450011	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RMND1 (required for meiotic nuclear division 1 homolog)