Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	65080
Gene name	Mitochondrial ribosomal protein L44
Gene symbol	MRPL44
Synonyms (NCBI Gene)	COXPD16L44MTMRP-L44mL44
Chromosome	2
Chromosome location	2q36.1
Summary	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% prot

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143697995	T>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs144037629	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1574796091	T>A	Pathogenic	Stop gained, coding sequence variant

247

Show/Hide all (247)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022007	hsa-miR-128-3p	Sequencing	20371350
MIRT027245	hsa-miR-101-3p	Sequencing	20371350
MIRT656177	hsa-miR-3973	HITS-CLIP	23824327
MIRT656176	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT656175	hsa-miR-520h	HITS-CLIP	23824327
MIRT656174	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT656173	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT656172	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT656171	hsa-miR-607	HITS-CLIP	23824327
MIRT656177	hsa-miR-3973	HITS-CLIP	23824327
MIRT656176	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT656175	hsa-miR-520h	HITS-CLIP	23824327
MIRT656174	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT656173	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT656172	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT656171	hsa-miR-607	HITS-CLIP	23824327
MIRT1159391	hsa-miR-1231	CLIP-seq
MIRT1159392	hsa-miR-149	CLIP-seq
MIRT1159393	hsa-miR-23a	CLIP-seq
MIRT1159394	hsa-miR-23b	CLIP-seq
MIRT1159395	hsa-miR-23c	CLIP-seq
MIRT1159396	hsa-miR-3064-5p	CLIP-seq
MIRT1159397	hsa-miR-3120-3p	CLIP-seq
MIRT1159398	hsa-miR-3122	CLIP-seq
MIRT1159399	hsa-miR-3165	CLIP-seq
MIRT1159400	hsa-miR-323-5p	CLIP-seq
MIRT1159401	hsa-miR-3611	CLIP-seq
MIRT1159402	hsa-miR-3613-3p	CLIP-seq
MIRT1159403	hsa-miR-3618	CLIP-seq
MIRT1159404	hsa-miR-3622a-3p	CLIP-seq
MIRT1159405	hsa-miR-3622b-3p	CLIP-seq
MIRT1159406	hsa-miR-3647-3p	CLIP-seq
MIRT1159407	hsa-miR-3650	CLIP-seq
MIRT1159408	hsa-miR-3656	CLIP-seq
MIRT1159409	hsa-miR-3689a-3p	CLIP-seq
MIRT1159410	hsa-miR-3689c	CLIP-seq
MIRT1159411	hsa-miR-3913-5p	CLIP-seq
MIRT1159412	hsa-miR-412	CLIP-seq
MIRT1159413	hsa-miR-4418	CLIP-seq
MIRT1159414	hsa-miR-4433	CLIP-seq
MIRT1159415	hsa-miR-4459	CLIP-seq
MIRT1159416	hsa-miR-4659a-3p	CLIP-seq
MIRT1159417	hsa-miR-4659b-3p	CLIP-seq
MIRT1159418	hsa-miR-4662a-3p	CLIP-seq
MIRT1159419	hsa-miR-4662a-5p	CLIP-seq
MIRT1159420	hsa-miR-4676-5p	CLIP-seq
MIRT1159421	hsa-miR-4768-3p	CLIP-seq
MIRT1159422	hsa-miR-4777-3p	CLIP-seq
MIRT1159423	hsa-miR-4794	CLIP-seq
MIRT1159424	hsa-miR-494	CLIP-seq
MIRT1159425	hsa-miR-509-3-5p	CLIP-seq
MIRT1159426	hsa-miR-509-5p	CLIP-seq
MIRT1159427	hsa-miR-513b	CLIP-seq
MIRT1159428	hsa-miR-544b	CLIP-seq
MIRT1159429	hsa-miR-545	CLIP-seq
MIRT1159430	hsa-miR-548p	CLIP-seq
MIRT1159431	hsa-miR-550a	CLIP-seq
MIRT1159432	hsa-miR-575	CLIP-seq
MIRT1159433	hsa-miR-654-3p	CLIP-seq
MIRT1159434	hsa-miR-875-5p	CLIP-seq
MIRT1159435	hsa-miR-876-3p	CLIP-seq
MIRT1159436	hsa-miR-934	CLIP-seq
MIRT2045739	hsa-miR-1228	CLIP-seq
MIRT2045740	hsa-miR-1273	CLIP-seq
MIRT2045741	hsa-miR-129-5p	CLIP-seq
MIRT1159398	hsa-miR-3122	CLIP-seq
MIRT1159399	hsa-miR-3165	CLIP-seq
MIRT1159402	hsa-miR-3613-3p	CLIP-seq
MIRT1159404	hsa-miR-3622a-3p	CLIP-seq
MIRT1159405	hsa-miR-3622b-3p	CLIP-seq
MIRT1159408	hsa-miR-3656	CLIP-seq
MIRT1159409	hsa-miR-3689a-3p	CLIP-seq
MIRT1159410	hsa-miR-3689c	CLIP-seq
MIRT1159411	hsa-miR-3913-5p	CLIP-seq
MIRT2045742	hsa-miR-4282	CLIP-seq
MIRT1159413	hsa-miR-4418	CLIP-seq
MIRT2045743	hsa-miR-4432	CLIP-seq
MIRT1159414	hsa-miR-4433	CLIP-seq
MIRT1159415	hsa-miR-4459	CLIP-seq
MIRT2045744	hsa-miR-4486	CLIP-seq
MIRT2045745	hsa-miR-4649-5p	CLIP-seq
MIRT1159419	hsa-miR-4662a-5p	CLIP-seq
MIRT1159421	hsa-miR-4768-3p	CLIP-seq
MIRT2045746	hsa-miR-4797-5p	CLIP-seq
MIRT2045747	hsa-miR-499-5p	CLIP-seq
MIRT1159425	hsa-miR-509-3-5p	CLIP-seq
MIRT1159426	hsa-miR-509-5p	CLIP-seq
MIRT1159428	hsa-miR-544b	CLIP-seq
MIRT2045748	hsa-miR-661	CLIP-seq
MIRT2045739	hsa-miR-1228	CLIP-seq
MIRT2045740	hsa-miR-1273	CLIP-seq
MIRT2045741	hsa-miR-129-5p	CLIP-seq
MIRT1159398	hsa-miR-3122	CLIP-seq
MIRT2274699	hsa-miR-3155	CLIP-seq
MIRT2274700	hsa-miR-3155b	CLIP-seq
MIRT1159399	hsa-miR-3165	CLIP-seq
MIRT2274701	hsa-miR-324-5p	CLIP-seq
MIRT2274702	hsa-miR-342-3p	CLIP-seq
MIRT1159402	hsa-miR-3613-3p	CLIP-seq
MIRT1159404	hsa-miR-3622a-3p	CLIP-seq
MIRT1159405	hsa-miR-3622b-3p	CLIP-seq
MIRT1159408	hsa-miR-3656	CLIP-seq
MIRT2274703	hsa-miR-3663-5p	CLIP-seq
MIRT1159409	hsa-miR-3689a-3p	CLIP-seq
MIRT1159410	hsa-miR-3689c	CLIP-seq
MIRT1159411	hsa-miR-3913-5p	CLIP-seq
MIRT2274704	hsa-miR-4284	CLIP-seq
MIRT1159413	hsa-miR-4418	CLIP-seq
MIRT1159414	hsa-miR-4433	CLIP-seq
MIRT1159415	hsa-miR-4459	CLIP-seq
MIRT2045744	hsa-miR-4486	CLIP-seq
MIRT2274705	hsa-miR-450b-5p	CLIP-seq
MIRT2045745	hsa-miR-4649-5p	CLIP-seq
MIRT1159419	hsa-miR-4662a-5p	CLIP-seq
MIRT2274706	hsa-miR-4729	CLIP-seq
MIRT1159421	hsa-miR-4768-3p	CLIP-seq
MIRT2045746	hsa-miR-4797-5p	CLIP-seq
MIRT2274707	hsa-miR-484	CLIP-seq
MIRT2274708	hsa-miR-507	CLIP-seq
MIRT1159425	hsa-miR-509-3-5p	CLIP-seq
MIRT1159426	hsa-miR-509-5p	CLIP-seq
MIRT2274709	hsa-miR-513c	CLIP-seq
MIRT2274710	hsa-miR-514b-5p	CLIP-seq
MIRT2274711	hsa-miR-518a-5p	CLIP-seq
MIRT2274712	hsa-miR-527	CLIP-seq
MIRT1159428	hsa-miR-544b	CLIP-seq
MIRT2274713	hsa-miR-557	CLIP-seq
MIRT2045748	hsa-miR-661	CLIP-seq
MIRT2045743	hsa-miR-4432	CLIP-seq
MIRT2045746	hsa-miR-4797-5p	CLIP-seq
MIRT2045747	hsa-miR-499-5p	CLIP-seq
MIRT2274709	hsa-miR-513c	CLIP-seq
MIRT2274710	hsa-miR-514b-5p	CLIP-seq
MIRT2045739	hsa-miR-1228	CLIP-seq
MIRT1159398	hsa-miR-3122	CLIP-seq
MIRT1159399	hsa-miR-3165	CLIP-seq
MIRT1159404	hsa-miR-3622a-3p	CLIP-seq
MIRT1159405	hsa-miR-3622b-3p	CLIP-seq
MIRT1159408	hsa-miR-3656	CLIP-seq
MIRT1159409	hsa-miR-3689a-3p	CLIP-seq
MIRT1159410	hsa-miR-3689c	CLIP-seq
MIRT1159411	hsa-miR-3913-5p	CLIP-seq
MIRT1159428	hsa-miR-544b	CLIP-seq
MIRT2045739	hsa-miR-1228	CLIP-seq
MIRT2573650	hsa-miR-1321	CLIP-seq
MIRT2573651	hsa-miR-134	CLIP-seq
MIRT2573652	hsa-miR-141	CLIP-seq
MIRT2573653	hsa-miR-200a	CLIP-seq
MIRT2573654	hsa-miR-3118	CLIP-seq
MIRT1159398	hsa-miR-3122	CLIP-seq
MIRT2274699	hsa-miR-3155	CLIP-seq
MIRT2274700	hsa-miR-3155b	CLIP-seq
MIRT2573655	hsa-miR-3162-5p	CLIP-seq
MIRT2573656	hsa-miR-3164	CLIP-seq
MIRT1159399	hsa-miR-3165	CLIP-seq
MIRT1159400	hsa-miR-323-5p	CLIP-seq
MIRT2573657	hsa-miR-335	CLIP-seq
MIRT1159401	hsa-miR-3611	CLIP-seq
MIRT1159403	hsa-miR-3618	CLIP-seq
MIRT1159404	hsa-miR-3622a-3p	CLIP-seq
MIRT1159405	hsa-miR-3622b-3p	CLIP-seq
MIRT1159407	hsa-miR-3650	CLIP-seq
MIRT1159408	hsa-miR-3656	CLIP-seq
MIRT1159409	hsa-miR-3689a-3p	CLIP-seq
MIRT1159410	hsa-miR-3689c	CLIP-seq
MIRT1159411	hsa-miR-3913-5p	CLIP-seq
MIRT2573658	hsa-miR-3929	CLIP-seq
MIRT1159412	hsa-miR-412	CLIP-seq
MIRT1159413	hsa-miR-4418	CLIP-seq
MIRT2573659	hsa-miR-4419b	CLIP-seq
MIRT2045743	hsa-miR-4432	CLIP-seq
MIRT1159414	hsa-miR-4433	CLIP-seq
MIRT1159415	hsa-miR-4459	CLIP-seq
MIRT2573660	hsa-miR-4478	CLIP-seq
MIRT1159416	hsa-miR-4659a-3p	CLIP-seq
MIRT1159417	hsa-miR-4659b-3p	CLIP-seq
MIRT1159419	hsa-miR-4662a-5p	CLIP-seq
MIRT2573661	hsa-miR-4663	CLIP-seq
MIRT1159420	hsa-miR-4676-5p	CLIP-seq
MIRT2274706	hsa-miR-4729	CLIP-seq
MIRT2573662	hsa-miR-4739	CLIP-seq
MIRT2573663	hsa-miR-4756-5p	CLIP-seq
MIRT1159421	hsa-miR-4768-3p	CLIP-seq
MIRT2573664	hsa-miR-4775	CLIP-seq
MIRT2045746	hsa-miR-4797-5p	CLIP-seq
MIRT2274707	hsa-miR-484	CLIP-seq
MIRT2573665	hsa-miR-485-5p	CLIP-seq
MIRT2045747	hsa-miR-499-5p	CLIP-seq
MIRT1159425	hsa-miR-509-3-5p	CLIP-seq
MIRT1159426	hsa-miR-509-5p	CLIP-seq
MIRT1159427	hsa-miR-513b	CLIP-seq
MIRT2274709	hsa-miR-513c	CLIP-seq
MIRT2274710	hsa-miR-514b-5p	CLIP-seq
MIRT1159428	hsa-miR-544b	CLIP-seq
MIRT1159431	hsa-miR-550a	CLIP-seq
MIRT1159432	hsa-miR-575	CLIP-seq
MIRT2573666	hsa-miR-590-3p	CLIP-seq
MIRT1159435	hsa-miR-876-3p	CLIP-seq
MIRT1159436	hsa-miR-934	CLIP-seq
MIRT2045739	hsa-miR-1228	CLIP-seq
MIRT2573650	hsa-miR-1321	CLIP-seq
MIRT1159398	hsa-miR-3122	CLIP-seq
MIRT2274699	hsa-miR-3155	CLIP-seq
MIRT2274700	hsa-miR-3155b	CLIP-seq
MIRT2573655	hsa-miR-3162-5p	CLIP-seq
MIRT1159399	hsa-miR-3165	CLIP-seq
MIRT1159400	hsa-miR-323-5p	CLIP-seq
MIRT2573657	hsa-miR-335	CLIP-seq
MIRT1159403	hsa-miR-3618	CLIP-seq
MIRT1159404	hsa-miR-3622a-3p	CLIP-seq
MIRT1159405	hsa-miR-3622b-3p	CLIP-seq
MIRT1159407	hsa-miR-3650	CLIP-seq
MIRT1159408	hsa-miR-3656	CLIP-seq
MIRT1159409	hsa-miR-3689a-3p	CLIP-seq
MIRT1159410	hsa-miR-3689c	CLIP-seq
MIRT1159411	hsa-miR-3913-5p	CLIP-seq
MIRT2573658	hsa-miR-3929	CLIP-seq
MIRT1159412	hsa-miR-412	CLIP-seq
MIRT1159413	hsa-miR-4418	CLIP-seq
MIRT2573659	hsa-miR-4419b	CLIP-seq
MIRT2045743	hsa-miR-4432	CLIP-seq
MIRT1159414	hsa-miR-4433	CLIP-seq
MIRT1159415	hsa-miR-4459	CLIP-seq
MIRT2573660	hsa-miR-4478	CLIP-seq
MIRT1159416	hsa-miR-4659a-3p	CLIP-seq
MIRT1159417	hsa-miR-4659b-3p	CLIP-seq
MIRT1159419	hsa-miR-4662a-5p	CLIP-seq
MIRT2573661	hsa-miR-4663	CLIP-seq
MIRT1159420	hsa-miR-4676-5p	CLIP-seq
MIRT2274706	hsa-miR-4729	CLIP-seq
MIRT2573662	hsa-miR-4739	CLIP-seq
MIRT2573663	hsa-miR-4756-5p	CLIP-seq
MIRT1159421	hsa-miR-4768-3p	CLIP-seq
MIRT2045746	hsa-miR-4797-5p	CLIP-seq
MIRT2274707	hsa-miR-484	CLIP-seq
MIRT2573665	hsa-miR-485-5p	CLIP-seq
MIRT2045747	hsa-miR-499-5p	CLIP-seq
MIRT1159425	hsa-miR-509-3-5p	CLIP-seq
MIRT1159426	hsa-miR-509-5p	CLIP-seq
MIRT1159427	hsa-miR-513b	CLIP-seq
MIRT2274709	hsa-miR-513c	CLIP-seq
MIRT2274710	hsa-miR-514b-5p	CLIP-seq
MIRT1159428	hsa-miR-544b	CLIP-seq
MIRT1159431	hsa-miR-550a	CLIP-seq
MIRT1159432	hsa-miR-575	CLIP-seq
MIRT1159435	hsa-miR-876-3p	CLIP-seq
MIRT1159436	hsa-miR-934	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IEA
GO:0003725	Function	Double-stranded RNA binding	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004525	Function	Ribonuclease III activity	IKR	11551941
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	28892042
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	27023846
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005762	Component	Mitochondrial large ribosomal subunit	IBA
GO:0005762	Component	Mitochondrial large ribosomal subunit	IDA	25278503, 28892042
GO:0005762	Component	Mitochondrial large ribosomal subunit	NAS	25278503
GO:0005840	Component	Ribosome	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006396	Process	RNA processing	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0032543	Process	Mitochondrial translation	NAS	27023846
GO:0070125	Process	Mitochondrial translational elongation	IBA
GO:0070125	Process	Mitochondrial translational elongation	IMP	23315540
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
611849	16650	ENSG00000135900

Q9H9J2

Protein name

Large ribosomal subunit protein mL44 (EC 3.1.26.-) (39S ribosomal protein L44, mitochondrial) (L44mt) (MRP-L44)

Protein function

Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome.

PDB

3J7Y , 3J9M , 5OOL , 5OOM , 6I9R , 6NU2 , 6NU3 , 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7A5F , 7A5G , 7A5H , 7A5I , 7A5J , 7A5K , 7L08 , 7L20 , 7O9K , 7O9M , 7ODR , 7ODS , 7ODT , 7OF0 , 7OF2 , 7OF3 , 7OF4 , 7OF5 , 7OF6 , 7OF7 , 7OG4 , 7OI6 , 7OI7 , 7OI8 , 7OI9 , 7OIA , 7OIB , 7OIC , 7OID , 7OIE , 7PD3 , 7PO4 , 7QH6

Family and domains

Sequence

MASGLVRLLQQGHRCLLAPVAPKLVPPVRGVKKGFRAAFRFQKELERQRLLRCPPPPVRR
SEKPNWDYHAEIQAFGHRLQENFSLDLLKTAFVNSCYIKSEEAKRQQLGIEKEAVLLNLK
SNQELSEQGTSFSQTCLTQFLEDEYPDMPTEGIKNLVDFLTGEEVVCHVARNLAVEQLTL
SEEFPVPPAVLQQTFFAVIGALLQSSGPERTALFIRDFLITQMTGKELFEMWKIINPMGL
LVEELKKRNVSAPESRLTRQSGGTTALPLYFVGLYCDKKLIAEGPGETVLVAEEEAARVA
LRKLYGFTENRRPWNYSKPKETLRAEKSITAS

Sequence length

332

Interactions

View interactions

	Reactome
			Mitochondrial translation elongation Mitochondrial translation termination

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Pathogenic	rs1574796091	RCV000791065	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Pathogenic; Likely pathogenic	rs2106116608, rs761343107, rs143697995	RCV001650514 RCV002267787 RCV000054810	★★★★★ ★★★★☆ 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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex IV deficiency, nuclear type 1	Uncertain significance	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
MRPL44-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

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	34140213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30206357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30206357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	34140213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	34140213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36299603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16	Combined Oxidative Phosphorylation Deficiency	ORPHANET_DG	23315540		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	23315540		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	23315540		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16	Combined Oxidative Phosphorylation Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	23315540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	25797485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	25797485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Hypertrophic Cardiomyopathy	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25590838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34140213	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25590838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	25590838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MRPL44 (mitochondrial ribosomal protein L44)