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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	50
Gene name	Aconitase 2
Gene symbol	ACO2
Synonyms (NCBI Gene)	ACONMHEL-S-284ICRDOCA8OPA9
Chromosome	22
Chromosome location	22q13.2
Summary	The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and f

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141772938	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic, likely-benign	Coding sequence variant, missense variant
rs150129663	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs747330606	G>T	Pathogenic	Splice donor variant
rs761368190	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs786200924	C>G	Pathogenic	Missense variant, coding sequence variant
rs786204828	G>A	Pathogenic	Missense variant, coding sequence variant
rs1601927180	G>T	Likely-pathogenic	Coding sequence variant, stop gained

149

Show/Hide all (149)

miRTarBase ID	miRNA	Experiments
MIRT762851	hsa-miR-1228	CLIP-seq
MIRT762852	hsa-miR-1231	CLIP-seq
MIRT762853	hsa-miR-184	CLIP-seq
MIRT762854	hsa-miR-3652	CLIP-seq
MIRT762855	hsa-miR-3663-5p	CLIP-seq
MIRT762856	hsa-miR-3673	CLIP-seq
MIRT762857	hsa-miR-432	CLIP-seq
MIRT762858	hsa-miR-4430	CLIP-seq
MIRT762859	hsa-miR-4476	CLIP-seq
MIRT762860	hsa-miR-4505	CLIP-seq
MIRT762861	hsa-miR-4786-3p	CLIP-seq
MIRT762862	hsa-miR-4804-5p	CLIP-seq
MIRT762863	hsa-miR-654-3p	CLIP-seq
MIRT762864	hsa-miR-671-5p	CLIP-seq
MIRT762865	hsa-miR-939	CLIP-seq
MIRT1924878	hsa-miR-127-3p	CLIP-seq
MIRT1924879	hsa-miR-183	CLIP-seq
MIRT1924880	hsa-miR-3160-3p	CLIP-seq
MIRT1924881	hsa-miR-4539	CLIP-seq
MIRT1924882	hsa-miR-4633-3p	CLIP-seq
MIRT762851	hsa-miR-1228	CLIP-seq
MIRT1924878	hsa-miR-127-3p	CLIP-seq
MIRT1924879	hsa-miR-183	CLIP-seq
MIRT762853	hsa-miR-184	CLIP-seq
MIRT2166078	hsa-miR-1908	CLIP-seq
MIRT2166079	hsa-miR-3180	CLIP-seq
MIRT2166080	hsa-miR-3180-3p	CLIP-seq
MIRT2166081	hsa-miR-3196	CLIP-seq
MIRT2166082	hsa-miR-3612	CLIP-seq
MIRT762854	hsa-miR-3652	CLIP-seq
MIRT762855	hsa-miR-3663-5p	CLIP-seq
MIRT762856	hsa-miR-3673	CLIP-seq
MIRT2166083	hsa-miR-3960	CLIP-seq
MIRT762857	hsa-miR-432	CLIP-seq
MIRT762858	hsa-miR-4430	CLIP-seq
MIRT762859	hsa-miR-4476	CLIP-seq
MIRT762860	hsa-miR-4505	CLIP-seq
MIRT2166084	hsa-miR-4704-3p	CLIP-seq
MIRT2166085	hsa-miR-4706	CLIP-seq
MIRT2166086	hsa-miR-4749-5p	CLIP-seq
MIRT762861	hsa-miR-4786-3p	CLIP-seq
MIRT762862	hsa-miR-4804-5p	CLIP-seq
MIRT2166087	hsa-miR-650	CLIP-seq
MIRT2166088	hsa-miR-663	CLIP-seq
MIRT762864	hsa-miR-671-5p	CLIP-seq
MIRT2166089	hsa-miR-744	CLIP-seq
MIRT762859	hsa-miR-4476	CLIP-seq
MIRT2166085	hsa-miR-4706	CLIP-seq
MIRT2166086	hsa-miR-4749-5p	CLIP-seq
MIRT2443038	hsa-miR-1251	CLIP-seq
MIRT2443039	hsa-miR-203	CLIP-seq
MIRT2443040	hsa-miR-205	CLIP-seq
MIRT2443041	hsa-miR-2117	CLIP-seq
MIRT2443042	hsa-miR-3157-5p	CLIP-seq
MIRT2443043	hsa-miR-3605-3p	CLIP-seq
MIRT2443044	hsa-miR-383	CLIP-seq
MIRT2443045	hsa-miR-4269	CLIP-seq
MIRT2443046	hsa-miR-4320	CLIP-seq
MIRT2443047	hsa-miR-4417	CLIP-seq
MIRT2443048	hsa-miR-4514	CLIP-seq
MIRT2443049	hsa-miR-4684-5p	CLIP-seq
MIRT2443050	hsa-miR-4691-3p	CLIP-seq
MIRT2443051	hsa-miR-4692	CLIP-seq
MIRT2443052	hsa-miR-4696	CLIP-seq
MIRT2166085	hsa-miR-4706	CLIP-seq
MIRT2443053	hsa-miR-4722-5p	CLIP-seq
MIRT2443054	hsa-miR-4742-5p	CLIP-seq
MIRT2166086	hsa-miR-4749-5p	CLIP-seq
MIRT2443055	hsa-miR-4768-3p	CLIP-seq
MIRT2443056	hsa-miR-4772-5p	CLIP-seq
MIRT2443057	hsa-miR-4781-5p	CLIP-seq
MIRT2443058	hsa-miR-483-3p	CLIP-seq
MIRT2443059	hsa-miR-500a	CLIP-seq
MIRT2443060	hsa-miR-502-5p	CLIP-seq
MIRT2443061	hsa-miR-578	CLIP-seq
MIRT2443062	hsa-miR-668	CLIP-seq
MIRT762865	hsa-miR-939	CLIP-seq
MIRT2443063	hsa-miR-940	CLIP-seq
MIRT2443038	hsa-miR-1251	CLIP-seq
MIRT2443039	hsa-miR-203	CLIP-seq
MIRT2443040	hsa-miR-205	CLIP-seq
MIRT2443041	hsa-miR-2117	CLIP-seq
MIRT2443042	hsa-miR-3157-5p	CLIP-seq
MIRT2443044	hsa-miR-383	CLIP-seq
MIRT2443045	hsa-miR-4269	CLIP-seq
MIRT2443046	hsa-miR-4320	CLIP-seq
MIRT2443048	hsa-miR-4514	CLIP-seq
MIRT2443049	hsa-miR-4684-5p	CLIP-seq
MIRT2443050	hsa-miR-4691-3p	CLIP-seq
MIRT2443051	hsa-miR-4692	CLIP-seq
MIRT2443052	hsa-miR-4696	CLIP-seq
MIRT2443053	hsa-miR-4722-5p	CLIP-seq
MIRT2443054	hsa-miR-4742-5p	CLIP-seq
MIRT2443055	hsa-miR-4768-3p	CLIP-seq
MIRT2443056	hsa-miR-4772-5p	CLIP-seq
MIRT2443059	hsa-miR-500a	CLIP-seq
MIRT2443060	hsa-miR-502-5p	CLIP-seq
MIRT2443061	hsa-miR-578	CLIP-seq
MIRT2443063	hsa-miR-940	CLIP-seq
MIRT762852	hsa-miR-1231	CLIP-seq
MIRT2443038	hsa-miR-1251	CLIP-seq
MIRT2166078	hsa-miR-1908	CLIP-seq
MIRT2443041	hsa-miR-2117	CLIP-seq
MIRT2166079	hsa-miR-3180	CLIP-seq
MIRT2166080	hsa-miR-3180-3p	CLIP-seq
MIRT2166081	hsa-miR-3196	CLIP-seq
MIRT2443043	hsa-miR-3605-3p	CLIP-seq
MIRT2166082	hsa-miR-3612	CLIP-seq
MIRT762855	hsa-miR-3663-5p	CLIP-seq
MIRT2166083	hsa-miR-3960	CLIP-seq
MIRT2443046	hsa-miR-4320	CLIP-seq
MIRT2443047	hsa-miR-4417	CLIP-seq
MIRT2443049	hsa-miR-4684-5p	CLIP-seq
MIRT2443052	hsa-miR-4696	CLIP-seq
MIRT2166085	hsa-miR-4706	CLIP-seq
MIRT2166086	hsa-miR-4749-5p	CLIP-seq
MIRT2443057	hsa-miR-4781-5p	CLIP-seq
MIRT2443058	hsa-miR-483-3p	CLIP-seq
MIRT2443059	hsa-miR-500a	CLIP-seq
MIRT2443060	hsa-miR-502-5p	CLIP-seq
MIRT2443061	hsa-miR-578	CLIP-seq
MIRT2166087	hsa-miR-650	CLIP-seq
MIRT762863	hsa-miR-654-3p	CLIP-seq
MIRT2166088	hsa-miR-663	CLIP-seq
MIRT2443062	hsa-miR-668	CLIP-seq
MIRT2166089	hsa-miR-744	CLIP-seq
MIRT762865	hsa-miR-939	CLIP-seq
MIRT762852	hsa-miR-1231	CLIP-seq
MIRT2166078	hsa-miR-1908	CLIP-seq
MIRT2166079	hsa-miR-3180	CLIP-seq
MIRT2166080	hsa-miR-3180-3p	CLIP-seq
MIRT2166081	hsa-miR-3196	CLIP-seq
MIRT2443043	hsa-miR-3605-3p	CLIP-seq
MIRT2166082	hsa-miR-3612	CLIP-seq
MIRT2674268	hsa-miR-3613-3p	CLIP-seq
MIRT762855	hsa-miR-3663-5p	CLIP-seq
MIRT2166083	hsa-miR-3960	CLIP-seq
MIRT2443047	hsa-miR-4417	CLIP-seq
MIRT2166085	hsa-miR-4706	CLIP-seq
MIRT2166086	hsa-miR-4749-5p	CLIP-seq
MIRT2443057	hsa-miR-4781-5p	CLIP-seq
MIRT2443058	hsa-miR-483-3p	CLIP-seq
MIRT2674269	hsa-miR-582-5p	CLIP-seq
MIRT2166087	hsa-miR-650	CLIP-seq
MIRT762863	hsa-miR-654-3p	CLIP-seq
MIRT2166088	hsa-miR-663	CLIP-seq
MIRT2443062	hsa-miR-668	CLIP-seq
MIRT2166089	hsa-miR-744	CLIP-seq
MIRT762865	hsa-miR-939	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003994	Function	Aconitate hydratase activity	IBA
GO:0003994	Function	Aconitate hydratase activity	IEA
GO:0005506	Function	Iron ion binding	IDA	9630632
GO:0005506	Function	Iron ion binding	TAS	9630632
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	9630632
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IBA
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	9630632
GO:0006099	Process	Tricarboxylic acid cycle	IBA
GO:0006099	Process	Tricarboxylic acid cycle	IDA	9630632
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006101	Process	Citrate metabolic process	IDA	9630632
GO:0006101	Process	Citrate metabolic process	TAS	9630632
GO:0016829	Function	Lyase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IBA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA

MIM	HGNC	e!Ensembl
100850	118	ENSG00000100412

Q99798

Protein name

Aconitate hydratase, mitochondrial (Aconitase) (EC 4.2.1.3) (Citrate hydro-lyase)

Protein function

Catalyzes the isomerization of citrate to isocitrate via cis-aconitate.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00330	Aconitase	67 → 503	Aconitase family (aconitate hydratase)	Family
PF00694	Aconitase_C	582 → 712	Aconitase C-terminal domain	Domain

Sequence

MAPYSLLVTRLQKALGVRQYHVASVLCQRAKVAMSHFEPNEYIHYDLLEKNINIVRKRLN
RPLTLSEKIVYGHLDDPASQEIERGKSYLRLRPDRVAMQDATAQMAMLQFISSGLSKVAV
PSTIHCDHLIEAQVGGEKDLRRAKDINQEVYNFLATAGAKYGVGFWKPGSGIIHQIILEN
YAYPGVLLIGTDSHTPNGGGLGGICIGVGGADAVDVMAGIPWELKCPKVIGVKLTGSLSG
WSSPKDVILKVAGILTVKGGTGAIVEYHGPGVDSISCTGMATICNMGAEIGATTSVFPYN
HRMKKYLSKTGREDIANLADEFKDHLVPDPGCHYDQLIEINLSELKPHINGPFTPDLAHP
VAEVGKVAEKEGWPLDIRVGLIGSCTNSSYEDMGRSAAVAKQALAHGLKCKSQFTITPGS
EQIRATIERDGYAQILRDLGGIVLANACGPCIGQWDRKDIKKGEKNTIVTSYNRNFTGRN
DANPETHAFVTSPEIVTALAIAGTLKFNPETDYLTGTDGKKFRLEAPDADELPKGEFDPG
QDTYQHPPKDSSGQHVDVSPTSQRLQLLEPFDKWDGKDLEDLQILIKVKGKCTTDHISAA
GPWLKFRGHLDNISNNLLIGAINIENGKANSVRNAVTQEFGPVPDTARYYKKHGIRWVVI
GDENYGEGSSREHAALEPRHLGGRAIITKSFARIHETNLKKQGLLPLTFADPADYNKIHP
VDKLTIQGLKDFTPGKPLKCIIKHPNGTQETILLNHTFNETQIEWFRAGSALNRMKELQQ

Sequence length

780

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ACO2-related disorder	Likely pathogenic; Pathogenic	rs747330606, rs2518233282, rs751460831	RCV004782301 RCV004534297 RCV000509125	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile cerebellar-retinal degeneration	Pathogenic; Likely pathogenic	rs1397401279, rs2146127288, rs772325936, rs368044961, rs2518224688, rs786204828, rs786204829, rs786204830, rs1114167284, rs2518222254, rs786200924, rs1601927180, rs1601936467, rs2066538446, rs2066594367	RCV001449910 RCV001542715 RCV001542716 RCV002226915 RCV002292697 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic atrophy	Pathogenic; Likely pathogenic	rs786204830, rs2518189757	RCV004815265 RCV004818310	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy 9	Pathogenic; Likely pathogenic	rs2146139034, rs2518236207, rs2518229785, rs2518189757, rs2518236265, rs2066653512	RCV001591860 RCV002289392 RCV002292698 RCV003237326 RCV003482903 RCV001197152 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic neuropathy	Likely pathogenic; Pathogenic	rs2066512609	RCV005860221	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs2518189759	RCV005926650	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (40)

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.
Acute intermittent porphyria	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE OPTIC ATROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain atrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central hypoventilation	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated macular dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial disease	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar CTD, ClinGen	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegeneration	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive microcephaly	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; 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 (91)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anxiety	Anxiety disorder	Pubtator	32519519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	28545339, 32519519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	33028849	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive isolated optic atrophy	Optic Atrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	26782057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	31819175	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	25351951, 31106992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	28545339, 32519519, 33028849, 37460232	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Color Blindness, Red-Green	Color blindness	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	6573531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12746427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	26992325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	16637013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	32519519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36187097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	30312344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28545339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	32519519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	31584077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fumarase deficiency	Fumarase Deficiency	BEFREE	23499446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	39809184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29160844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
INFANTILE CEREBELLAR-RETINAL DEGENERATION	Cerebellar-Retinal Degeneration	BEFREE	22405087, 26992325, 28463998, 30689204		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INFANTILE CEREBELLAR-RETINAL DEGENERATION	Cerebellar-Retinal Degeneration	GENOMICS_ENGLAND_DG	22405087, 25351951		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INFANTILE CEREBELLAR-RETINAL DEGENERATION	Cerebellar-Retinal Degeneration	UNIPROT_DG	22405087, 25351951		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INFANTILE CEREBELLAR-RETINAL DEGENERATION	Cerebellar-Retinal Degeneration	ORPHANET_DG	22405087		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile cerebellar-retinal degeneration	Cerebellar-Retinal Degeneration	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INFANTILE CEREBELLAR-RETINAL DEGENERATION	Cerebellar-Retinal Degeneration	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INFANTILE CEREBELLAR-RETINAL DEGENERATION	Cerebellar-Retinal Degeneration	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33188782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	9832444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28545339, 32519519, 33028849	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16201454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21472284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	16201454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	31814027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30972978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23550275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14972331, 23550275, 30972978, 31819175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	31106992, 33028849, 36738801	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Skills Disorders	Motor skills disorder	Pubtator	28545339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	22405087, 25351951, 26992325, 28545339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	9630632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23761047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	32519519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23550275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28463998	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	22405087, 28463998, 28814227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 1	Oculocutaneous albinism	Pubtator	35163231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	25351951, 26593267		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic Atrophy	Optic atrophy	Pubtator	28545339, 32519519, 33028849	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic Atrophy 1	Optic Atrophy	BEFREE	31509793		★★★★★ ★☆☆☆☆ Found in Text Mining only
OPTIC ATROPHY 9	Optic Atrophy	GENOMICS_ENGLAND_DG	22405087		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OPTIC ATROPHY 9	Optic Atrophy	UNIPROT_DG	25351951		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OPTIC ATROPHY 9	Optic Atrophy	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OPTIC ATROPHY 9	Optic Atrophy	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic Atrophy Autosomal Dominant	Optic atrophy	Pubtator	31509793, 38278202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY	Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	BEFREE	31509793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Neuropathy	Optic Neuropathy	BEFREE	25351951, 30118607		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	16201454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36593912, 9630632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	9630632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	28545339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	34480296	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16625280, 30972978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26370974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31814027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	CTD_human_DG	25070658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	26992325, 28463998, 28545339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	28545339, 32519519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19110265		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	32519519, 33028849	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	30312344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23550275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

ACO2 (aconitase 2)