AIFM1 (apoptosis inducing factor mitochondria associated 1)

Gene

• Entrez ID: 9131
• Gene name: Apoptosis inducing factor mitochondria associated 1
• Gene symbol: AIFM1
• Synonyms (NCBI Gene): AIF, AUNX1, CMT2D, CMTX4, COWCK, COXPD6, DFNX5, NADMR, NAMSD, PDCD8, SEMDHL
• Chromosome: X
• Chromosome location: Xq26.1
• Summary: This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it a

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020612	hsa-miR-155-5p	Proteomics	18668040
MIRT028978	hsa-miR-26b-5p	Microarray	19088304
MIRT047896	hsa-miR-30c-5p	CLASH	23622248
MIRT042266	hsa-miR-484	CLASH	23622248
MIRT036812	hsa-miR-877-3p	CLASH	23622248
MIRT774340	hsa-miR-4436b-5p	CLIP-seq
MIRT774341	hsa-miR-4776-3p	CLIP-seq
MIRT774342	hsa-miR-629	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002931	Process	Response to ischemia	IEA
GO:0003677	Function	DNA binding	IDA	27178839
GO:0003677	Function	DNA binding	IEA
GO:0003954	Function	NADH dehydrogenase activity	IEA
GO:0005515	Function	Protein binding	IPI	16713569, 17094969, 21364629, 21715506, 22371500, 26004228, 33961781
GO:0005634	Component	Nucleus	IDA	23217327
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005634	Component	Nucleus	TAS	9989411
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	9989411
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS	18309324
GO:0005758	Component	Mitochondrial intermembrane space	IDA	15775970, 26004228
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IMP	20111043
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0006915	Process	Apoptotic process	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IMP	23217327
GO:0009636	Process	Response to toxic substance	IEA
GO:0016020	Component	Membrane	IEA
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IBA
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IDA	27178839
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	TAS	18309324
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016651	Function	Oxidoreductase activity, acting on NAD(P)H	IDA	23217327, 27178839
GO:0030182	Process	Neuron differentiation	IDA	20111043
GO:0033108	Process	Mitochondrial respiratory chain complex assembly	IMP	26004228
GO:0043065	Process	Positive regulation of apoptotic process	IDA	17094969
GO:0043065	Process	Positive regulation of apoptotic process	TAS	18309324
GO:0043068	Process	Positive regulation of programmed cell death	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0045041	Process	Protein import into mitochondrial intermembrane space	IMP	26004228
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0060545	Process	Positive regulation of necroptotic process	ISS
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISS
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071732	Process	Cellular response to nitric oxide	IEA
GO:0071949	Function	FAD binding	IBA
GO:0071949	Function	FAD binding	IDA	27178839
GO:0072572	Function	Poly-ADP-D-ribose binding	ISS
GO:0160203	Process	Mitochondrial disulfide relay system	IBA
GO:0160203	Process	Mitochondrial disulfide relay system	IMP	20111043
GO:0160203	Process	Mitochondrial disulfide relay system	TAS	35994922
GO:1902065	Process	Response to L-glutamate	IEA
GO:1904045	Process	Cellular response to aldosterone	IEA

Other IDs

• MIM: 300169
• HGNC: 8768
• e!Ensembl: ENSG00000156709

Protein

• UniProt ID: O95831
• Protein name: Apoptosis-inducing factor 1, mitochondrial (EC 1.6.99.-) (Programmed cell death protein 8)
• Protein function: Functions both as NADH oxidoreductase and as regulator of apoptosis (PubMed:17094969, PubMed:20362274, PubMed:23217327, PubMed:33168626). In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytoso
• PDB: 1M6I, 4BUR, 4BV6, 4FDC, 4LII, 5FMH, 5FS6, 5FS7, 5FS8, 5FS9, 5KVH, 5KVI, 8D3E, 8D3G, 8D3H, 8D3I, 8D3J, 8D3K, 8D3N, 8D3O, 8VGY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00070	Pyr_redox	302 → 386		Domain
  PF14721	AIF_C	465 → 594	Apoptosis-inducing factor, mitochondrion-associated, C-term	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tested tissues (PubMed:16644725). Detected in muscle and skin fibroblasts (at protein level) (PubMed:23217327). Expressed in osteoblasts (at protein level) (PubMed:28842795). {ECO:0000269|PubMed:16644725, ECO:0000269|P
• Sequence:

  MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGAS
  GGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEG
  EEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELW
  FSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRD
  NMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREV
  KSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREG
  VKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGG
  FRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQS
  MFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASE
  ITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHED
  LNEVAKLFNIHED

• Sequence length: 613

Pathways

KEGG:

Apoptosis
Necroptosis

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
AIFM1-related disorder	Likely pathogenic; Pathogenic	rs724160020	RCV003895033	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auditory neuropathy	Likely pathogenic	rs2124648387, rs2523110174, rs2523126527, rs2523110237	RCV003484465 RCV003484483 RCV003484488 RCV003484491	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auditory neuropathy spectrum disorder	Likely pathogenic; Pathogenic	rs2523131440, rs2523104459	RCV003984981 RCV003984982	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease X-linked recessive 4	Likely pathogenic; Pathogenic	rs2124656989, rs1057518895, rs1603224817, rs1603227409	RCV002051593 RCV000789722 RCV000907854 RCV000907858	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Neuropathy X	Likely pathogenic; Pathogenic	rs724160022, rs724160021, rs724160020, rs2523117559, rs1057518895	RCV002516010 RCV003764900 RCV001383393 RCV003790474 RCV001385157	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Combined oxidative phosphorylation deficiency	Likely pathogenic; Pathogenic	rs724160022, rs724160021, rs724160020, rs2523117559, rs1057518895	RCV002516010 RCV003764900 RCV001383393 RCV003790474 RCV001385157	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness, X-linked 5	Likely pathogenic; Pathogenic	rs2523097758, rs2523099491, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs863225431, rs863225432	RCV003128444 RCV003128445 RCV000149868 RCV000149866 RCV000149869 RCV000149865 RCV000149864 RCV000149870 RCV000149861 RCV000149859 RCV000149858 RCV000149857 RCV000202363 RCV000202359	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal muscle weakness	Likely pathogenic; Pathogenic	rs1057518895	RCV000415225	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Likely pathogenic; Pathogenic	rs724160020	RCV001814071	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Foot dorsiflexor weakness	Likely pathogenic; Pathogenic	rs1057518895	RCV000415225	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pes planus	Likely pathogenic; Pathogenic	rs1057518895	RCV000415225	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder	Likely pathogenic; Pathogenic	rs1057518895	RCV000415225	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe X-linked mitochondrial encephalomyopathy	Pathogenic; Likely pathogenic	rs2523119113, rs724160021, rs724160020, rs2030323020, rs387906500, rs1057516211, rs1603223152	RCV002282609 RCV003467209 RCV003467208 RCV003152986 RCV000012302 RCV000408758 RCV000907852	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal dysplasia, Bieganski type	Likely pathogenic; Pathogenic	rs2124656997, rs2523131307, rs1202786652, rs377527583, rs1603225182	RCV001788993 RCV002790045 RCV000856716 RCV000856718 RCV000856719	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs724160021	RCV005888292	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tip-toe gait	Likely pathogenic	rs2124644144	RCV001823087	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
3-hydroxyisobutyryl-CoA hydrolase deficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AIFM1-related hypomyelination with spondylometaphyseal dysplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-HYDROXYISOBUTYRYL COA DEACYLASE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Benign; Likely benign; Uncertain significance	ClinVar ClinVar, Disgenet ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COWCHOCK SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NECROSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH DEAFNESS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH HEARING LOSS	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	28100091		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	37173762	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	11231025		★☆☆☆☆ Found in Text Mining only
Akinetic-Rigid Variant of Huntington Disease	Akinetic-Rigid Variant Of Huntington Disease	CTD_human_DG	12930891		★☆☆☆☆ Found in Text Mining only
Amyotrophy, monomelic	Monomelic Amyotrophy	BEFREE	19412816		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31794795		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31794795		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	26938720		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11078219		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	34117073	Associate	★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory Neuropathy	BEFREE	16816020		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auditory neuropathy	Auditory neuropathy	Pubtator	32684920, 34088005, 38456936	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auditory neuropathy	Auditory Neuropathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	16816020, 25986071		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	34088005	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27818061		★☆☆☆☆ Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2D	Charcot-Marie-Tooth Disease	BEFREE	28594869		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34117073	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	35008690	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	LHGDN	18593521		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22073986		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22839996, 33867848, 39885513	Associate	★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG	23499715		★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	Pubtator	28299359	Associate	★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	34502088	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33867848	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22378505		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24992339	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	19332114	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	37173762	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	15181376		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28536804		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	28536804		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	16769947, 17663003, 30031633, 8872480		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CODAS syndrome	CODAS Syndrome	BEFREE	27102849		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26173962, 29186589, 34117073	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16001080		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17603079		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	25885900	Associate	★☆☆☆☆ Found in Text Mining only
Color blindness	Color Blindness	BEFREE	31523922		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17207087, 31014355, 31666117		★☆☆☆☆ Found in Text Mining only
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	20362274, 23217327, 27604308, 3856385		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	20362274, 22019070, 26004228, 26173962, 27178839		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6	Combined Oxidative Phosphorylation Deficiency	ORPHANET_DG	20362274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6	Combined Oxidative Phosphorylation Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COWCHOCK SYNDROME	Cowchock Syndrome	GENOMICS_ENGLAND_DG	20362274, 23217327, 27604308, 3856385		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COWCHOCK SYNDROME	Cowchock Syndrome	UNIPROT_DG	23217327, 26004228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COWCHOCK SYNDROME	Cowchock Syndrome	ORPHANET_DG	23217327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cowchock syndrome	Cowchock syndrome	Pubtator	23217327, 26173962, 28888069, 37173762	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COWCHOCK SYNDROME	Cowchock Syndrome	BEFREE	26173962, 27102849, 28888069, 30031633, 31523922		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COWCHOCK SYNDROME	Cowchock Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COWCHOCK SYNDROME	Cowchock Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	26173962, 28888069, 34117073	Associate	★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	34117073	Inhibit	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	26173962, 34117073	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	27177047		★☆☆☆☆ Found in Text Mining only
DEAFNESS, X-LINKED 5 (disorder)	Deafness	CLINGEN_DG	20362274, 23217327, 25986071, 28842795, 28888069, 28975462		★☆☆☆☆ Found in Text Mining only
DEAFNESS, X-LINKED 5 (disorder)	Deafness	ORPHANET_DG	25986071		★☆☆☆☆ Found in Text Mining only
DEAFNESS, X-LINKED 5 (disorder)	Deafness	GENOMICS_ENGLAND_DG	25986071		★☆☆☆☆ Found in Text Mining only
DEAFNESS, X-LINKED 5 (disorder)	Deafness	UNIPROT_DG	25986071		★☆☆☆☆ Found in Text Mining only
DEAFNESS, X-LINKED 5 (disorder)	Deafness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
DEAFNESS, X-LINKED 5 (disorder)	Deafness	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	23499715		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG	23499715		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG	23499715		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG	23499715		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	26822084		★☆☆☆☆ Found in Text Mining only
Distal Spinal Muscular Atrophy	Distal Spinal Muscular Atrophy	BEFREE	10400924		★☆☆☆☆ Found in Text Mining only
Dyskinesia Familial with Facial Myokymia	Dyskinesia, familial, with facial myokymia	Pubtator	37644805	Associate	★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	26173962		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	22152093	Stimulate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27215383	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31794795		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23955799	Associate	★☆☆☆☆ Found in Text Mining only
EVEN-PLUS SYNDROME	Even-Plus Syndrome	BEFREE	27102849		★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	17663003		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	28299359	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11078219		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11078219		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19339613, 23241369	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19724922, 26683770		★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	11078219		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	32684920, 36751702, 37365177	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	28842795	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	38456936	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	19332114	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	11231025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	10520946, 9219740, 9409358, 9595994		★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	CTD_human_DG	12930891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington Disease	BEFREE	20079354, 22580459		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease, Late Onset	Huntington Disease	CTD_human_DG	12930891		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	28299359	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26173962, 30031633		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11231025, 27102849, 28842795		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	28842795	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron overload	Pubtator	37365177	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile Huntington Disease	Huntington Disease	CTD_human_DG	12930891		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	24992339	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23320127	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	36098742	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20711619		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy With Metaphyseal Chondrodysplasia	Leukoencephalopathy With Metaphyseal Chondrodysplasia	ORPHANET_DG	27102849		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22609775, 29501488		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29501488		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18306460		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	28350112		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22073986, 23343084		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22378505		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28536804		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21929745		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11231025, 27102849		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	26112407	Associate	★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly Primary Autosomal Recessive 1	Microcephaly	Pubtator	24815436	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	28888069	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	18566329, 26173962, 28299359, 34336119, 37365177	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	27102849, 29605508, 29780003		★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	23217327, 28967629		★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	23217327, 28299359	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	BEFREE	26173962		★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	26173962, 28299359, 37644805	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	17551003	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	26173962		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	26173962, 37644805	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17384201	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	25583628, 29780003		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	24832602	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	16267568, 23955799, 24265759		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	28842795	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	20362274	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27178839, 28595361		★☆☆☆☆ Found in Text Mining only
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	BEFREE	17663003, 23279345, 28594869		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	25583628, 27102849, 28975462, 31523922, 8872480		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18283299, 22683989	Associate	★☆☆☆☆ Found in Text Mining only
Oxidative Phosphorylation Deficiencies	Oxidative Phosphorylation Deficiency	BEFREE	26173962		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26806867		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35008690	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	28975462		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	16816020, 16982418, 28888069, 29780003, 31188924, 31523922		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	28888069, 34117073	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	16816020, 29780003, 31188924, 31523922		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polyneuropathies	Polyneuropathy	Pubtator	28888069	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	28888069		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	28967629		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	20362274, 34088005	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17560018		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	23118229		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23118229, 35524874	Associate	★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	27215383	Associate	★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	31312394		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	CTD_human_DG	18497877		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Pigment Epithelial Detachment	Retinal Pigment Epithelial Detachment	CTD_human_DG	18497877		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	LHGDN	18821579		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	17663003		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	37644805	Associate	★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	30031633		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe X-linked mitochondrial encephalomyopathy	Mitochondrial Encephalomyopathy, X-Linked	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sleep Deprivation	Sleep deprivation	Pubtator	19435812, 22683989, 24144307	Stimulate	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	24815436	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	21965726	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 17	Spastic Paraplegia	BEFREE	17663003		★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	27102849		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23955799		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19166416	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32848167	Associate	★☆☆☆☆ Found in Text Mining only
X-linked Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked hereditary sensory and autonomic neuropathy with deafness	Hereditary Sensory And Autonomic Neuropathy With Deafness, X-Linked	CLINGEN_DG	20362274, 23217327, 25986071, 28842795, 28888069, 28975462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked hereditary sensory and autonomic neuropathy with deafness	Hereditary Sensory And Autonomic Neuropathy With Deafness, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations