BCS1L (BCS1 ubiquinol-cytochrome c reductase complex chaperone)

Gene

• Entrez ID: 617
• Gene name: BCS1 ubiquinol-cytochrome c reductase complex chaperone
• Gene symbol: BCS1L
• Synonyms (NCBI Gene): BCS, BCS1, BJS, FLNMS, GRACILE, Hs.6719, MC3DN1, PTD, h-BCS, h-BCS1
• Chromosome: 2
• Chromosome location: 2q35
• Summary: This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908571	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908573	G>A,C	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121908574	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908577	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908578	C>T	Likely-pathogenic, uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs144885874	C>T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs201454788	C>T	Likely-pathogenic, pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs368486097	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs375876694	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs386833858	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs550497120	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs587777278	T>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs760559534	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs776838028	C>T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs779331797	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs863223915	AT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057516255	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516346	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1057516518	->C	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516786	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516802	G>A	Likely-pathogenic	Splice donor variant
rs1057522861	C>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064796486	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1165110929	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1363475546	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1553596929	G>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553596996	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553597538	CT>-	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553597934	TAGG>-	Likely-pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant
rs1553598145	T>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1575108381	AG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575108396	T>C	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048931	hsa-miR-92a-3p	CLASH	23622248
MIRT048239	hsa-miR-196a-5p	CLASH	23622248
MIRT046273	hsa-miR-23b-3p	CLASH	23622248
MIRT040868	hsa-miR-18a-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	18628306, 28514442, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	9878253, 18628306
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0007005	Process	Mitochondrion organization	IMP	18628306
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0032979	Process	Protein insertion into mitochondrial inner membrane from matrix	IBA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	18628306
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IMP	18628306
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	IBA
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	IEA
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	IEA
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	IMP	18628306
GO:0045275	Component	Respiratory chain complex III	TAS	9878253

Other IDs

• MIM: 603647
• HGNC: 1020
• e!Ensembl: ENSG00000074582

Protein

• UniProt ID: Q9Y276
• Protein name: Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-) (BCS1-like protein)
• Protein function: Chaperone necessary for the incorporation of Rieske iron-sulfur protein UQCRFS1 into the mitochondrial respiratory chain complex III (PubMed:11528392, PubMed:9878253). Plays an important role in the maintenance of mitochondrial tubular networks,
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08740	BCS1_N	25 → 191	BCS1 N terminal	Domain
  PF00004	AAA	226 → 355	ATPase family associated with various cellular activities (AAA)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9878253}.
• Sequence:

  MPLSDFILALKDNPYFGAGFGLVGVGTALALARKGVQLGLVAFRRHYMITLEVPARDRSY
  AWLLSWLTRHSTRTQHLSVETSYLQHESGRISTKFEFVPSPGNHFIWYRGKWIRVERSRE
  MQMIDLQTGTPWESVTFTALGTDRKVFFNILEEARELALQQEEGKTVMYTAVGSEWRPFG
  YPRRRRPLNSVVLQQGLADRIVRDVQEFIDNPKWYTDRGIPYRRGYLLYGPPGCGKSSFI
  TALAGELEHSICLLSLTDSSLSDDRLNHLLSVAPQQSLVLLEDVDAAFLSRDLAVENPVK
  YQGLGRLTFSGLLNALDGVASTEARIVFMTTNHVDRLDPALIRPGRVDLKEYVGYCSHWQ
  LTQMFQRFYPGQAPSLAENFAEHVLRATNQISPAQVQGYFMLYKNDPVGAIHNAESLRR

• Sequence length: 419

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
BCS1L-related disorder	Pathogenic; Likely pathogenic	rs28937590, rs121908576, rs121908578, rs1939677064	RCV004732532 RCV000260660 RCV004532300 RCV005636942	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY	Likely pathogenic; Pathogenic	rs121908578, rs121908579	RCV000006546 RCV000006548	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs754414954	RCV005911109	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GRACILE syndrome	Likely pathogenic; Pathogenic	rs775388576, rs754414954, rs754934987, rs1280810181, rs2106324466, rs1559317208, rs778769841, rs1197613485, rs373105002, rs368486097, rs753115642, rs2469880171, rs2469889765, rs2469869076, rs2469879669, rs140405116, rs2469873818, rs2469881143, rs377025174, rs141257714, rs201454788, rs121908572, rs28937590, rs121908575, rs121908576, rs121908577, rs121908578, rs144885874, rs2106320484, rs1939647579, rs1939496203, rs541260525, rs1182790091, rs121908573, rs749196764, rs777735526, rs1057517412, rs1057516954, rs779331797, rs1057516255, rs1057516802, rs1057516346, rs1057516518, rs1057516786, rs776838028, rs1057521059, rs1553595997, rs1553596929, rs760559534, rs550497120, rs1553596761, rs1553596996, rs1363475546, rs1553598145, rs1553596638, rs1553597934, rs751484879, rs1443643776, rs386833856, rs386833857, rs386833858, rs1006907254, rs770749420, rs762980642	RCV002486327 RCV005408841 RCV005023143 RCV002499798 RCV001844327 RCV005023443 RCV005016948 RCV002492132 RCV003155444 RCV005016914 RCV002302512 RCV002309799 RCV002310019 RCV002310025 RCV002308208 RCV002308350 RCV002307197 RCV002310184 RCV000675122 RCV005025315 RCV000675151 RCV000665386 RCV000006542 RCV005025015 RCV000576565 RCV001835622 RCV001142702 RCV000674245 RCV003331768 RCV005030051 RCV005021990 RCV003988121 RCV005021991 RCV005023576 RCV000410534 RCV000409388 RCV000409243 RCV000409791 RCV000409533 RCV000410319 RCV000410918 RCV000411192 RCV000412303 RCV000411872 RCV002502446 RCV004798833 RCV000670398 RCV000674598 RCV000671907 RCV000670083 RCV000673227 RCV000674599 RCV000670440 RCV000665667 RCV000674449 RCV000673264 RCV000665738 RCV001825516 RCV002501070 RCV000049825 RCV000049826 RCV000049827 RCV000987030 RCV002482133 RCV005014297	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs369691608	RCV000850204	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leigh syndrome	Pathogenic; Likely pathogenic	rs121908576, rs121908577, rs1057521059	RCV000763069 RCV000779835 RCV001329213	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic; Pathogenic	rs369691608	RCV001003574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex III deficiency nuclear type 1	Likely pathogenic; Pathogenic	rs775388576, rs754934987, rs1280810181, rs2106324466, rs1459378570, rs1559317208, rs778769841, rs1197613485, rs368486097, rs1057516802, rs2469880171, rs2469889765, rs2469869076, rs2469879669, rs140405116, rs2469873818, rs2469881143, rs377025174, rs747956412, rs141257714, rs201454788, rs121908571, rs121908572, rs121908573, rs28937590, rs121908575, rs121908576, rs121908577, rs121908578, rs121908580, rs144885874, rs1939647579, rs1939496203, rs541260525, rs1182790091, rs754291622, rs749196764, rs1057516255, rs1057516346, rs776838028, rs1057521059, rs550497120, rs1363475546, rs1553596638, rs1553597934, rs751484879, rs1443643776, rs770749420, rs762980642	RCV002486327 RCV005023143 RCV002499798 RCV004813180 RCV001837431 RCV005023443 RCV005016948 RCV002492132 RCV005016914 RCV002249295 RCV002309799 RCV002310019 RCV002310025 RCV002308208 RCV002308350 RCV002307197 RCV002310184 RCV000415034 RCV000671152 RCV005025315 RCV005016551 RCV000006538 RCV000006539 RCV000006540 RCV000983982 RCV000006543 RCV000006544 RCV002243624 RCV000034811 RCV000006549 RCV000006550 RCV005030051 RCV005021990 RCV005030053 RCV005021991 RCV003990401 RCV005023576 RCV001334242 RCV004567874 RCV002502421 RCV000415338 RCV002285017 RCV005027806 RCV005019138 RCV005019155 RCV005019105 RCV005021161 RCV002501070 RCV002482133 RCV005014297	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Movement disorder	Likely pathogenic; Pathogenic	rs369691608	RCV001003574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal encephalopathy	Likely pathogenic	rs2469871803	RCV003154308	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pili torti-deafness syndrome	Likely pathogenic; Pathogenic	rs775388576, rs754414954, rs754934987, rs774688562, rs1280810181, rs587777278, rs1559317208, rs778769841, rs1197613485, rs373105002, rs368486097, rs1939635954, rs2469880171, rs2469889765, rs2469869076, rs2469879669, rs140405116, rs2469873818, rs2469881143, rs1939594732, rs377025174, rs141257714, rs201454788, rs121908572, rs28937590, rs121908575, rs121908576, rs121908577, rs121908578, rs144885874, rs2469871803, rs1939647579, rs2469897807, rs2469885136, rs1939496203, rs1559316590, rs2469889006, rs1939677064, rs2469889654, rs541260525, rs2469879851, rs1182790091, rs2469893628, rs2106332781, rs2469897768, rs2469890626, rs121908573, rs748561443, rs749196764, rs777735526, rs779331797, rs1057516346, rs776838028, rs760559534, rs550497120, rs1363475546, rs1553596638, rs1553597934, rs369691608, rs751484879, rs1443643776, rs386833856, rs770749420, rs1939382793, rs762980642	RCV002486327 RCV004570802 RCV004570953 RCV003473973 RCV002499798 RCV000114392 RCV003475165 RCV002300634 RCV003475238 RCV003475210 RCV005016914 RCV003475114 RCV002309799 RCV002310019 RCV002310025 RCV002308208 RCV002308350 RCV002307197 RCV002310184 RCV003475513 RCV001810436 RCV005025315 RCV000586158 RCV003472985 RCV002476936 RCV003472988 RCV000763069 RCV000006545 RCV005016250 RCV005025016 RCV003475536 RCV003474338 RCV003474340 RCV003474341 RCV003474342 RCV003474343 RCV003474344 RCV003474345 RCV003474346 RCV003474347 RCV003474348 RCV003474349 RCV003474350 RCV003474351 RCV003474352 RCV003474353 RCV004575408 RCV004575409 RCV003475959 RCV003475945 RCV003475966 RCV002502421 RCV002502446 RCV003472142 RCV004568535 RCV005019138 RCV004568552 RCV005019105 RCV003472287 RCV005021161 RCV002501070 RCV003474632 RCV002482133 RCV003473826 RCV005014297	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe intellectual disability	Likely pathogenic; Pathogenic	rs369691608	RCV001003574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sparse hair	Likely pathogenic; Pathogenic	rs369691608	RCV001003574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BJORNSTAD SYNDROME	—	CTD, ClinGen, GWAS catalog, HPO CTD, ClinGen, GWAS catalog, HPO CTD, ClinGen, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased activity of mitochondrial complex III	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe global developmental delay	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acidosis Lactic	Lactic acidosis	Pubtator	26563427, 31435670, 35305621, 40332224	Associate	★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	12138246, 1366654, 15231671		★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	27077764, 28395746, 36700476, 6725554	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	37639066	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	28395746	Stimulate	★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bjornstad syndrome	Bjornstad syndrome	Pubtator	17314340, 20518024, 31435670, 33126389, 40332224	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
	Bjornstad Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	30431598		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20646866, 26832859, 27421187, 28597470, 30049436, 30384580, 30986424, 31372049, 31662515		★☆☆☆☆ Found in Text Mining only
Budd-Chiari Syndrome	Budd-Chiari syndrome	BEFREE	24345960		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	28597470		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	38291374	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	37001142	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	GENOMICS_ENGLAND_DG	12215968, 9792866		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	31435670, 40332224	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	30431598		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	24438617		★☆☆☆☆ Found in Text Mining only
Congenital hypotrichia	Congenital Hypotrichia	BEFREE	25895478		★☆☆☆☆ Found in Text Mining only
De Toni-Debre-Fanconi Syndrome	Fanconi Syndrome	BEFREE	26563427		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	26563427	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28005437		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	30314583		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	40332224	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31758056		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos syndrome 6B	Ehlers-Danlos Syndrome	BEFREE	30115710		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	11528392, 23892085		★☆☆☆☆ Found in Text Mining only
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathy, Subacute Necrotizing, Juvenile	Encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	16930946		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	26563427		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi Syndrome	BEFREE	26563427		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	26563427	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
GRACILE syndrome	GRACILE Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GRACILE SYNDROME (disorder)	GRACILE syndrome	CLINVAR_DG	11528392, 12215968, 12910490, 17314340, 19285991, 20518024, 22277166, 23892085, 24236502, 24655110, 25895478, 25914718, 26489029, 28105683		★☆☆☆☆ Found in Text Mining only
GRACILE SYNDROME (disorder)	GRACILE syndrome	BEFREE	12215968, 17314340, 18386115, 21620786, 21680270, 24655110, 26563427		★☆☆☆☆ Found in Text Mining only
GRACILE SYNDROME (disorder)	GRACILE syndrome	GENOMICS_ENGLAND_DG	12215968, 19508421, 27604308, 30712880, 9792866, 9878253		★☆☆☆☆ Found in Text Mining only
GRACILE SYNDROME (disorder)	GRACILE syndrome	ORPHANET_DG	12215968		★☆☆☆☆ Found in Text Mining only
GRACILE SYNDROME (disorder)	GRACILE syndrome	UNIPROT_DG	12215968, 17314340		★☆☆☆☆ Found in Text Mining only
GRACILE SYNDROME (disorder)	GRACILE syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	26563427, 31435670	Associate	★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	31435670	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Conductive	Conductive hearing loss	Pubtator	35305621	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	17314340, 26563427, 31435670, 40332224	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Vein Thrombosis	Hepatic Vein Thrombosis	BEFREE	24345960		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	28627444		★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	BEFREE	25895478		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Iron Overload	Iron Overload	LHGDN	12215968		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	31435670	Associate	★☆☆☆☆ Found in Text Mining only
Isolated complex III deficiency	Isolated Complex III Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	28637910		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	31435670	Associate	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	10508156, 11528392, 19162478, 21274865, 25613900, 28427446		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINVAR_DG	17314340, 19389488, 24172246, 25895478, 25914718		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	GENOMICS_ENGLAND_DG	19508421, 27604308, 9777342, 9878253		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	10508156, 11528392, 19162478, 21274865, 25613900, 28427446		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	10508156, 11528392, 19162478, 21274865, 25613900, 28427446		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	10508156, 11528392, 19162478, 21274865, 25613900, 28427446		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	10508156, 11528392, 19162478, 21274865, 25613900, 28427446		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	10508156, 11528392, 19162478, 21274865, 25613900, 28427446		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	18566324, 27389053, 30431598, 34384895	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16965385, 17550846, 18566324, 24030729, 26375248, 31698332		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	26563427	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30406869		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20646866, 26832859, 27421187, 28597470, 30049436, 30384580, 30986424, 31372049, 31662515		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21565400, 27614746		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30314583		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	26563427		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	Pubtator	26563427	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Complex III Deficiency	Mitochondrial complex deficiency	Pubtator	17314340, 20518024, 25239759, 26563427, 33126389, 35305621, 40332224	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)	Mitochondrial Complex Deficiency	CLINVAR_DG	17403714		★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)	Mitochondrial Complex Deficiency	BEFREE	19162478		★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1	Mitochondrial Complex Deficiency	UNIPROT_DG	11528392, 12910490, 17314340, 17403714, 18628306, 19162478, 22991165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1	Mitochondrial Complex Deficiency	CLINVAR_DG	12215968, 21274865, 27959697		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	19508421, 27604308, 9777342, 9878253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1	Mitochondrial Complex Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	17314340, 18386115, 31435670		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	17314340, 20518024, 31435670, 34662929, 37001142, 40332224	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	LHGDN	18386115		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	BEFREE	17403714		★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	11528392, 12215968, 17314340, 17403714, 19508421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement disorder	Pubtator	34662929	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	29803161, 30431598		★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	10508156, 11528392, 19162478, 21274865, 25613900, 28427446		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12138246, 19901546, 28597470, 30710171		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	23979985		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30496560		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23889332		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28480778		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	28766214, 30118902, 30406869		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24963607		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pili torti-deafness syndrome	Pili Torti-Deafness Syndrome	BEFREE	17314340, 24172246, 25895478, 28322498, 28627444		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pili torti-deafness syndrome	Pili Torti-Deafness Syndrome	CLINVAR_DG	17314340, 19389488, 25525159		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pili torti-deafness syndrome	Pili Torti-Deafness Syndrome	ORPHANET_DG	17314340, 24172246, 24236502		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pili torti-deafness syndrome	Pili Torti-Deafness Syndrome	UNIPROT_DG	17314340, 24172246		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pili torti-deafness syndrome	Pili Torti-Deafness Syndrome	CLINGEN_DG	17314340, 24172246, 25895478, 28105683, 28322498		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pili torti-deafness syndrome	Pili Torti-Deafness Syndrome	GENOMICS_ENGLAND_DG	27604308, 9777342, 9878253		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pili torti-deafness syndrome	Pili Torti-Deafness Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Portal Hypertension	Portal Hypertension	BEFREE	22452639		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	29803161		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30319492		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34380980	Associate	★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	33126389	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Regular astigmatism - corneal	Corneal astigmatism	BEFREE	30115710		★☆☆☆☆ Found in Text Mining only
Renal tubulopathy-encephalopathy-liver failure syndrome	Renal tubulopathy-encephalopathy-liver failure syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retrognathia	Retrognathia	Pubtator	35305621	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28005437		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	17314340	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31435670, 34662929	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	17314340, 25895478, 28322498		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Splenomegaly	Splenomegaly	Pubtator	28395746	Stimulate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	BEFREE	29803161		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	35305621	Associate	★☆☆☆☆ Found in Text Mining only