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	51218
Gene name	Glutaredoxin 5
Gene symbol	GLRX5
Synonyms (NCBI Gene)	C14orf87FLB4739GRX5PR01238PRO1238PRSASIDBA3SPAHGC
Chromosome	14
Chromosome location	14q32.13
Summary	This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxi

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs765487627	T>C	Pathogenic	Missense variant, coding sequence variant
rs869312752	A>C	Pathogenic	Coding sequence variant, missense variant

237

Show/Hide all (237)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050727	hsa-miR-18a-5p	CLASH	23622248
MIRT046660	hsa-miR-222-3p	CLASH	23622248
MIRT280555	hsa-miR-140-5p	PAR-CLIP	21572407
MIRT280557	hsa-miR-152-3p	PAR-CLIP	21572407
MIRT280559	hsa-miR-148b-3p	PAR-CLIP	21572407
MIRT280554	hsa-miR-148a-3p	PAR-CLIP	21572407
MIRT557624	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT280565	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT557623	hsa-miR-15b-3p	PAR-CLIP	21572407
MIRT557621	hsa-miR-6499-3p	PAR-CLIP	21572407
MIRT557622	hsa-miR-323b-5p	PAR-CLIP	21572407
MIRT557620	hsa-miR-410-5p	PAR-CLIP	21572407
MIRT557619	hsa-miR-494-5p	PAR-CLIP	21572407
MIRT280556	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT280563	hsa-miR-1273g-5p	PAR-CLIP	21572407
MIRT557618	hsa-miR-582-5p	PAR-CLIP	21572407
MIRT280560	hsa-miR-2054	PAR-CLIP	21572407
MIRT280555	hsa-miR-140-5p	PAR-CLIP	21572407
MIRT280557	hsa-miR-152-3p	PAR-CLIP	21572407
MIRT280559	hsa-miR-148b-3p	PAR-CLIP	21572407
MIRT280554	hsa-miR-148a-3p	PAR-CLIP	21572407
MIRT557624	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT280565	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT557623	hsa-miR-15b-3p	PAR-CLIP	21572407
MIRT557621	hsa-miR-6499-3p	PAR-CLIP	21572407
MIRT557622	hsa-miR-323b-5p	PAR-CLIP	21572407
MIRT557620	hsa-miR-410-5p	PAR-CLIP	21572407
MIRT557619	hsa-miR-494-5p	PAR-CLIP	21572407
MIRT280556	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT280563	hsa-miR-1273g-5p	PAR-CLIP	21572407
MIRT557618	hsa-miR-582-5p	PAR-CLIP	21572407
MIRT280560	hsa-miR-2054	PAR-CLIP	21572407
MIRT1021455	hsa-miR-1270	CLIP-seq
MIRT1021456	hsa-miR-1273g	CLIP-seq
MIRT1021457	hsa-miR-1275	CLIP-seq
MIRT1021458	hsa-miR-128	CLIP-seq
MIRT1021459	hsa-miR-129-5p	CLIP-seq
MIRT1021460	hsa-miR-148a	CLIP-seq
MIRT1021461	hsa-miR-148b	CLIP-seq
MIRT1021462	hsa-miR-152	CLIP-seq
MIRT1021463	hsa-miR-186	CLIP-seq
MIRT1021464	hsa-miR-197	CLIP-seq
MIRT1021465	hsa-miR-2467-3p	CLIP-seq
MIRT1021466	hsa-miR-27a	CLIP-seq
MIRT1021467	hsa-miR-27b	CLIP-seq
MIRT1021468	hsa-miR-3120-3p	CLIP-seq
MIRT1021469	hsa-miR-3175	CLIP-seq
MIRT1021470	hsa-miR-338-5p	CLIP-seq
MIRT1021471	hsa-miR-3672	CLIP-seq
MIRT1021472	hsa-miR-3678-3p	CLIP-seq
MIRT1021473	hsa-miR-369-3p	CLIP-seq
MIRT1021474	hsa-miR-374c	CLIP-seq
MIRT1021475	hsa-miR-375	CLIP-seq
MIRT1021476	hsa-miR-3942-5p	CLIP-seq
MIRT1021477	hsa-miR-4260	CLIP-seq
MIRT1021478	hsa-miR-4269	CLIP-seq
MIRT1021479	hsa-miR-4282	CLIP-seq
MIRT1021480	hsa-miR-4310	CLIP-seq
MIRT1021481	hsa-miR-4427	CLIP-seq
MIRT1021482	hsa-miR-4499	CLIP-seq
MIRT1021483	hsa-miR-4504	CLIP-seq
MIRT1021484	hsa-miR-4513	CLIP-seq
MIRT1021485	hsa-miR-4514	CLIP-seq
MIRT1021486	hsa-miR-4517	CLIP-seq
MIRT1021487	hsa-miR-4531	CLIP-seq
MIRT1021488	hsa-miR-4665-5p	CLIP-seq
MIRT1021489	hsa-miR-4680-3p	CLIP-seq
MIRT1021490	hsa-miR-4692	CLIP-seq
MIRT1021491	hsa-miR-4703-5p	CLIP-seq
MIRT1021492	hsa-miR-4712-3p	CLIP-seq
MIRT1021493	hsa-miR-4723-5p	CLIP-seq
MIRT1021494	hsa-miR-4731-3p	CLIP-seq
MIRT1021495	hsa-miR-4742-5p	CLIP-seq
MIRT1021496	hsa-miR-4753-3p	CLIP-seq
MIRT1021497	hsa-miR-4801	CLIP-seq
MIRT1021498	hsa-miR-487a	CLIP-seq
MIRT1021499	hsa-miR-495	CLIP-seq
MIRT1021500	hsa-miR-587	CLIP-seq
MIRT1021501	hsa-miR-620	CLIP-seq
MIRT1021502	hsa-miR-633	CLIP-seq
MIRT1021503	hsa-miR-642b	CLIP-seq
MIRT1021504	hsa-miR-655	CLIP-seq
MIRT1021505	hsa-miR-9	CLIP-seq
MIRT2002667	hsa-miR-1178	CLIP-seq
MIRT1021456	hsa-miR-1273g	CLIP-seq
MIRT1021458	hsa-miR-128	CLIP-seq
MIRT1021459	hsa-miR-129-5p	CLIP-seq
MIRT2002668	hsa-miR-130a	CLIP-seq
MIRT2002669	hsa-miR-130b	CLIP-seq
MIRT1021460	hsa-miR-148a	CLIP-seq
MIRT1021461	hsa-miR-148b	CLIP-seq
MIRT1021462	hsa-miR-152	CLIP-seq
MIRT1021463	hsa-miR-186	CLIP-seq
MIRT1021464	hsa-miR-197	CLIP-seq
MIRT1021465	hsa-miR-2467-3p	CLIP-seq
MIRT1021466	hsa-miR-27a	CLIP-seq
MIRT1021467	hsa-miR-27b	CLIP-seq
MIRT2002670	hsa-miR-301a	CLIP-seq
MIRT2002671	hsa-miR-301b	CLIP-seq
MIRT1021468	hsa-miR-3120-3p	CLIP-seq
MIRT2002672	hsa-miR-3131	CLIP-seq
MIRT2002673	hsa-miR-3163	CLIP-seq
MIRT2002674	hsa-miR-3183	CLIP-seq
MIRT2002675	hsa-miR-324-5p	CLIP-seq
MIRT1021470	hsa-miR-338-5p	CLIP-seq
MIRT2002676	hsa-miR-3591-3p	CLIP-seq
MIRT2002677	hsa-miR-3662	CLIP-seq
MIRT2002678	hsa-miR-3666	CLIP-seq
MIRT1021472	hsa-miR-3678-3p	CLIP-seq
MIRT2002679	hsa-miR-3682-5p	CLIP-seq
MIRT1021473	hsa-miR-369-3p	CLIP-seq
MIRT1021474	hsa-miR-374c	CLIP-seq
MIRT1021475	hsa-miR-375	CLIP-seq
MIRT2002680	hsa-miR-383	CLIP-seq
MIRT2002681	hsa-miR-3940-3p	CLIP-seq
MIRT1021476	hsa-miR-3942-5p	CLIP-seq
MIRT1021478	hsa-miR-4269	CLIP-seq
MIRT2002682	hsa-miR-4295	CLIP-seq
MIRT1021480	hsa-miR-4310	CLIP-seq
MIRT2002683	hsa-miR-4325	CLIP-seq
MIRT1021481	hsa-miR-4427	CLIP-seq
MIRT1021483	hsa-miR-4504	CLIP-seq
MIRT1021485	hsa-miR-4514	CLIP-seq
MIRT2002684	hsa-miR-454	CLIP-seq
MIRT2002685	hsa-miR-4668-3p	CLIP-seq
MIRT1021489	hsa-miR-4680-3p	CLIP-seq
MIRT1021490	hsa-miR-4692	CLIP-seq
MIRT2002686	hsa-miR-4698	CLIP-seq
MIRT1021491	hsa-miR-4703-5p	CLIP-seq
MIRT2002687	hsa-miR-4723-3p	CLIP-seq
MIRT1021494	hsa-miR-4731-3p	CLIP-seq
MIRT1021495	hsa-miR-4742-5p	CLIP-seq
MIRT2002688	hsa-miR-4772-5p	CLIP-seq
MIRT1021497	hsa-miR-4801	CLIP-seq
MIRT1021498	hsa-miR-487a	CLIP-seq
MIRT1021499	hsa-miR-495	CLIP-seq
MIRT2002689	hsa-miR-500a	CLIP-seq
MIRT2002690	hsa-miR-501-3p	CLIP-seq
MIRT2002691	hsa-miR-502-3p	CLIP-seq
MIRT2002692	hsa-miR-510	CLIP-seq
MIRT1021500	hsa-miR-587	CLIP-seq
MIRT2002693	hsa-miR-600	CLIP-seq
MIRT2002694	hsa-miR-611	CLIP-seq
MIRT2002695	hsa-miR-642a	CLIP-seq
MIRT1021503	hsa-miR-642b	CLIP-seq
MIRT1021504	hsa-miR-655	CLIP-seq
MIRT2002696	hsa-miR-767-3p	CLIP-seq
MIRT1021456	hsa-miR-1273g	CLIP-seq
MIRT2002668	hsa-miR-130a	CLIP-seq
MIRT2002669	hsa-miR-130b	CLIP-seq
MIRT1021460	hsa-miR-148a	CLIP-seq
MIRT1021461	hsa-miR-148b	CLIP-seq
MIRT1021462	hsa-miR-152	CLIP-seq
MIRT1021463	hsa-miR-186	CLIP-seq
MIRT1021464	hsa-miR-197	CLIP-seq
MIRT1021465	hsa-miR-2467-3p	CLIP-seq
MIRT2002670	hsa-miR-301a	CLIP-seq
MIRT2002671	hsa-miR-301b	CLIP-seq
MIRT1021468	hsa-miR-3120-3p	CLIP-seq
MIRT2002673	hsa-miR-3163	CLIP-seq
MIRT1021470	hsa-miR-338-5p	CLIP-seq
MIRT2235659	hsa-miR-3606	CLIP-seq
MIRT2002678	hsa-miR-3666	CLIP-seq
MIRT1021472	hsa-miR-3678-3p	CLIP-seq
MIRT1021473	hsa-miR-369-3p	CLIP-seq
MIRT1021474	hsa-miR-374c	CLIP-seq
MIRT1021475	hsa-miR-375	CLIP-seq
MIRT2002680	hsa-miR-383	CLIP-seq
MIRT1021476	hsa-miR-3942-5p	CLIP-seq
MIRT1021478	hsa-miR-4269	CLIP-seq
MIRT2002682	hsa-miR-4295	CLIP-seq
MIRT1021480	hsa-miR-4310	CLIP-seq
MIRT1021481	hsa-miR-4427	CLIP-seq
MIRT1021482	hsa-miR-4499	CLIP-seq
MIRT1021483	hsa-miR-4504	CLIP-seq
MIRT2235660	hsa-miR-4506	CLIP-seq
MIRT1021484	hsa-miR-4513	CLIP-seq
MIRT1021485	hsa-miR-4514	CLIP-seq
MIRT2002684	hsa-miR-454	CLIP-seq
MIRT1021489	hsa-miR-4680-3p	CLIP-seq
MIRT1021490	hsa-miR-4692	CLIP-seq
MIRT2002686	hsa-miR-4698	CLIP-seq
MIRT1021491	hsa-miR-4703-5p	CLIP-seq
MIRT1021495	hsa-miR-4742-5p	CLIP-seq
MIRT2002688	hsa-miR-4772-5p	CLIP-seq
MIRT1021498	hsa-miR-487a	CLIP-seq
MIRT1021499	hsa-miR-495	CLIP-seq
MIRT2235661	hsa-miR-548aa	CLIP-seq
MIRT2235662	hsa-miR-570	CLIP-seq
MIRT1021500	hsa-miR-587	CLIP-seq
MIRT1021503	hsa-miR-642b	CLIP-seq
MIRT1021504	hsa-miR-655	CLIP-seq
MIRT1021465	hsa-miR-2467-3p	CLIP-seq
MIRT1021472	hsa-miR-3678-3p	CLIP-seq
MIRT1021478	hsa-miR-4269	CLIP-seq
MIRT1021481	hsa-miR-4427	CLIP-seq
MIRT1021485	hsa-miR-4514	CLIP-seq
MIRT1021489	hsa-miR-4680-3p	CLIP-seq
MIRT1021490	hsa-miR-4692	CLIP-seq
MIRT1021495	hsa-miR-4742-5p	CLIP-seq
MIRT1021503	hsa-miR-642b	CLIP-seq
MIRT2002674	hsa-miR-3183	CLIP-seq
MIRT2437440	hsa-miR-337-5p	CLIP-seq
MIRT2437441	hsa-miR-4469	CLIP-seq
MIRT2002687	hsa-miR-4723-3p	CLIP-seq
MIRT2002695	hsa-miR-642a	CLIP-seq
MIRT2002696	hsa-miR-767-3p	CLIP-seq
MIRT2437442	hsa-miR-887	CLIP-seq
MIRT1021465	hsa-miR-2467-3p	CLIP-seq
MIRT1021472	hsa-miR-3678-3p	CLIP-seq
MIRT1021503	hsa-miR-642b	CLIP-seq
MIRT2539592	hsa-miR-1205	CLIP-seq
MIRT1021468	hsa-miR-3120-3p	CLIP-seq
MIRT2539593	hsa-miR-3145-5p	CLIP-seq
MIRT1021478	hsa-miR-4269	CLIP-seq
MIRT2539594	hsa-miR-4418	CLIP-seq
MIRT2002689	hsa-miR-500a	CLIP-seq
MIRT2539595	hsa-miR-509-3-5p	CLIP-seq
MIRT2539596	hsa-miR-509-5p	CLIP-seq
MIRT2002693	hsa-miR-600	CLIP-seq
MIRT2539592	hsa-miR-1205	CLIP-seq
MIRT1021465	hsa-miR-2467-3p	CLIP-seq
MIRT2539593	hsa-miR-3145-5p	CLIP-seq
MIRT1021470	hsa-miR-338-5p	CLIP-seq
MIRT1021472	hsa-miR-3678-3p	CLIP-seq
MIRT1021478	hsa-miR-4269	CLIP-seq
MIRT2539594	hsa-miR-4418	CLIP-seq
MIRT1021481	hsa-miR-4427	CLIP-seq
MIRT1021485	hsa-miR-4514	CLIP-seq
MIRT1021489	hsa-miR-4680-3p	CLIP-seq
MIRT1021490	hsa-miR-4692	CLIP-seq
MIRT1021495	hsa-miR-4742-5p	CLIP-seq
MIRT2002689	hsa-miR-500a	CLIP-seq
MIRT2539595	hsa-miR-509-3-5p	CLIP-seq
MIRT2539596	hsa-miR-509-5p	CLIP-seq
MIRT2002693	hsa-miR-600	CLIP-seq
MIRT1021503	hsa-miR-642b	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24606901, 27499296, 27532772, 28380382, 32296183, 34063696
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005739	Component	Mitochondrion	NAS	22746225
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IDA	20364084
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006879	Process	Intracellular iron ion homeostasis	NAS	27519415, 27532772
GO:0016226	Process	Iron-sulfur cluster assembly	NAS	27532772
GO:0030097	Process	Hemopoiesis	ISS
GO:0030425	Component	Dendrite	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0044571	Process	[2Fe-2S] cluster assembly	IGI	23615440
GO:0045454	Process	Cell redox homeostasis	NAS	27532772
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:0051604	Process	Protein maturation	IGI	23615440
GO:1990229	Component	Iron-sulfur cluster assembly complex	IPI	27532772

MIM	HGNC	e!Ensembl
609588	20134	ENSG00000182512

Q86SX6

Protein name

Glutaredoxin-related protein 5, mitochondrial (Monothiol glutaredoxin-5)

Protein function

Monothiol glutaredoxin involved in mitochondrial iron-sulfur (Fe/S) cluster transfer (PubMed:20364084, PubMed:23615440). Receives 2Fe/2S clusters from scaffold protein ISCU and mediates their transfer to apoproteins, to the 4Fe/FS cluster biosyn

PDB

2MMZ , 2WUL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00462	Glutaredoxin	54 → 119	Glutaredoxin	Domain

Sequence

MSGSLGRAAAALLRWGRGAGGGGLWGPGVRAAGSGAGGGGSAEQLDALVKKDKVVVFLKG
TPEQPQCGFSNAVVQILRLHGVRDYAAYNVLDDPELRQGIKDYSNWPTIPQVYLNGEFVG
GCDILLQMHQNGDLVEELKKLGIHSALLDEKKDQDSK

Sequence length

157

Interactions

View interactions

	Reactome
			Mitochondrial iron-sulfur cluster biogenesis

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
Sideroblastic anemia 3	Pathogenic	rs121908584, rs869312752, rs765487627, rs1891344853, rs891111781	RCV000001673 RCV000210158 RCV000210075 RCV001171376 RCV001171377	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spasticity-ataxia-gait anomalies syndrome	Pathogenic; Likely pathogenic	rs2139646713, rs869320757, rs869320758	RCV001844352 RCV000210133 RCV000210190	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

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.
ANEMIA, SIDEROBLASTIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD-ONSET SPASTICITY WITH HYPERGLYCINEMIA	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLRX5-related disorder	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIDEROBLASTIC ANEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (55)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult-onset autosomal recessive sideroblastic anemia	Sideroblastic Anemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	17485548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	LHGDN	17485548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	17485548, 20364084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia hypochromic microcytic	Hypochromic microcytic anemia	Pubtator	17485548	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sideroblastic	Sideroblastic anemia	Pubtator	17485548, 20364084, 34732213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY	Anemia	GENOMICS_ENGLAND_DG	17485548, 25342667, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY	Anemia	UNIPROT_DG	17485548, 20364084, 25342667, 26100117		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY	Anemia	GENOMICS_ENGLAND_DG	17485548, 25342667		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY	Anemia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive	Anemia	ORPHANET_DG	17485548		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive	Anemia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35096270	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood-onset spasticity with hyperglycinemia	Spasticity With Hyperglycinemia	ORPHANET_DG	24334290, 24777537		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood-onset spasticity with hyperglycinemia	Spasticity With Hyperglycinemia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood-onset spasticity with hyperglycinemia	Spasticity With Hyperglycinemia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood-onset spasticity with hyperglycinemia	Spasticity With Hyperglycinemia	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conjugated hyperbilirubinemia	Conjugated hyperbilirubinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29593651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29593651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	32896986	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythroid hyperplasia	Erythroid hyperplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	18606475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycinemia Nonketotic	Hyperglycemia	Pubtator	24334290, 26947380, 34732213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34732213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	17485548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	LHGDN	17485548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	17485548, 20364084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	30770271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25004829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	34732213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	18606475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonketotic Hyperglycinemia	Nonketotic Hyperglycinemia	BEFREE	24334290, 25476511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonketotic Hyperglycinemia	Nonketotic Hyperglycinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	24334290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	24334290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Paraparesis	Pubtator	34732213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	24334290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	34732213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	BEFREE	18606475, 20481466, 21252495, 29784770		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sideroblastic anemia	Sideroblastic Anemia	CTD_human_DG	18637800		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Ataxia	Spastic Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	24334290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	BEFREE	30737140		★★★★★ ★☆☆☆☆ Found in Text Mining only

GLRX5 (glutaredoxin 5)