SURF1 (SURF1 cytochrome c oxidase assembly factor)

Gene

• Entrez ID: 6834
• Gene name: SURF1 cytochrome c oxidase assembly factor
• Gene symbol: SURF1
• Synonyms (NCBI Gene): CMT4K, MC4DN1, SHY1
• Chromosome: 9
• Chromosome location: 9q34.2
• Summary: This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rick

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933402	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918657	G>A	Pathogenic	Coding sequence variant, stop gained
rs121918658	A>C	Pathogenic	Coding sequence variant, missense variant
rs147816470	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs200702528	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs373551988	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs375398247	A>C,G	Pathogenic	Intron variant
rs398122806	A>G	Pathogenic	Missense variant, coding sequence variant
rs587753385	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs781787822	A>C,G	Pathogenic	Splice donor variant
rs781934508	C>A,T	Likely-pathogenic	Intron variant
rs782007828	CTCT>-,CT	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs782061187	->A	Pathogenic	Coding sequence variant, stop gained
rs782190413	G>A	Pathogenic	Coding sequence variant, missense variant
rs782289759	->CAGG	Pathogenic	Coding sequence variant, frameshift variant
rs782316919	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs782349178	TG>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs782488388	->AGATGC	Uncertain-significance, likely-pathogenic	Coding sequence variant, inframe insertion
rs782490558	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs782609482	C>A,T	Pathogenic	Splice donor variant
rs782623477	G>A	Pathogenic	Coding sequence variant, stop gained
rs782682492	T>C	Pathogenic	Splice acceptor variant
rs782788600	->ACTGCAGATGCTCGT	Likely-pathogenic	Coding sequence variant, inframe insertion
rs863224227	C>A	Pathogenic	Splice acceptor variant
rs863224230	GGT>AGG	Likely-pathogenic	Coding sequence variant, missense variant
rs864309500	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1053850536	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057517942	TTTA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057520688	C>T	Pathogenic	Coding sequence variant, stop gained
rs1131691894	GGT>C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1242159511	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1391748504	C>G	Pathogenic	Splice acceptor variant
rs1554768236	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554768246	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554768333	CT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1564349087	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1564349176	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588688823	->AA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1588689993	CT>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2121084	hsa-miR-214	CLIP-seq
MIRT2121085	hsa-miR-3158-3p	CLIP-seq
MIRT2121086	hsa-miR-3619-5p	CLIP-seq
MIRT2121087	hsa-miR-4291	CLIP-seq
MIRT2121088	hsa-miR-4685-5p	CLIP-seq
MIRT2121089	hsa-miR-646	CLIP-seq
MIRT2121090	hsa-miR-761	CLIP-seq
MIRT2121091	hsa-miR-922	CLIP-seq
MIRT2343020	hsa-miR-200b	CLIP-seq
MIRT2343021	hsa-miR-200c	CLIP-seq
MIRT2343022	hsa-miR-203	CLIP-seq
MIRT2121084	hsa-miR-214	CLIP-seq
MIRT2343023	hsa-miR-217	CLIP-seq
MIRT2121085	hsa-miR-3158-3p	CLIP-seq
MIRT2121086	hsa-miR-3619-5p	CLIP-seq
MIRT2343024	hsa-miR-429	CLIP-seq
MIRT2121087	hsa-miR-4291	CLIP-seq
MIRT2343025	hsa-miR-4418	CLIP-seq
MIRT2343026	hsa-miR-4635	CLIP-seq
MIRT2121088	hsa-miR-4685-5p	CLIP-seq
MIRT2343027	hsa-miR-509-3-5p	CLIP-seq
MIRT2343028	hsa-miR-509-5p	CLIP-seq
MIRT2121089	hsa-miR-646	CLIP-seq
MIRT2121090	hsa-miR-761	CLIP-seq
MIRT2121091	hsa-miR-922	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MYC	Activation	10858544
YY1	Activation	10858544;7607503
YY1	Unknown	9278494

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004129	Function	Cytochrome-c oxidase activity	IEA
GO:0005515	Function	Protein binding	IPI	23260140, 26321642
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0008535	Process	Respiratory chain complex IV assembly	TAS	9843204
GO:0009060	Process	Aerobic respiration	TAS	9843204
GO:0016020	Component	Membrane	IEA
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IBA
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IMP	24027061
GO:0098803	Component	Respiratory chain complex	TAS	9843204
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 185620
• HGNC: 11474
• e!Ensembl: ENSG00000148290

Protein

• UniProt ID: Q15526
• Protein name: Surfeit locus protein 1
• Protein function: Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. {ECO:0000269|PubMed:24027061, ECO:0000269|PubMed:9843204, ECO:0000305|Pub
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02104	SURF1	68 → 283	SURF1 family	Family

• Sequence:

  MAAVAALQLGLRAAGLGRAPASAAWRSVLRVSPRPGVAWRPSRCGSSAAEASATKAEDDS
  FLQWVLLLIPVTAFGLGTWQVQRRKWKLNLIAELESRVLAEPVPLPADPMELKNLEYRPV
  KVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGAYVVTPFHCTDLGVTILVNRG
  FVPRKKVNPETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITG
  AEPIFIDANFQSTVPGGPIGGQTRVTLRNEHLQYIVTWYGLSAATSYLWFKKFLRGTPGV
  

• Sequence length: 300

Pathways

Reactome:

TP53 Regulates Metabolic Genes
Respiratory electron transport

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
Abnormal pyramidal sign	Pathogenic	rs782316919	RCV000626844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	Pathogenic	rs782349178	RCV005208136	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia	Pathogenic	rs782316919	RCV000626844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4K	Pathogenic; Likely pathogenic	rs2119083553, rs782021521, rs781954439, rs782542152, rs945343783, rs2490619353, rs781828424, rs2490613891, rs782490558, rs782190413, rs863224228, rs863224229, rs782726390, rs864309500, rs147816470, rs782623477, rs2490628968, rs121918657, rs782316919, rs2490613666, rs2490613455, rs2490623379, rs1836465016, rs782007828, rs2490616999, rs782349178, rs1057517942, rs781948238, rs782788600, rs1131691894, rs1242159511, rs764928653, rs1219762677	RCV002501874 RCV002503285 RCV005042510 RCV005042517 RCV005045225 RCV005050721 RCV005045335 RCV005042938 RCV001813769 RCV000202523 RCV002478694 RCV002492908 RCV000202482 RCV000202439 RCV005044488 RCV005049509 RCV005047534 RCV005042037 RCV000500935 RCV005047669 RCV005051338 RCV005047710 RCV004690452 RCV005431644 RCV005040587 RCV002244861 RCV003447527 RCV002502493 RCV002489153 RCV005044741 RCV005044749 RCV002289700 RCV000662348	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dysarthria	Pathogenic	rs782316919	RCV000626844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs147816470	RCV005890956	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leigh syndrome	Pathogenic; Likely pathogenic	rs2119083553, rs2119081217, rs2119085025, rs2119079745, rs782021521, rs2119088472, rs2119085074, rs781954439, rs782542152, rs2119085056, rs782420522, rs1333638410, rs2119079909, rs2119083367, rs1836590086, rs1444801979, rs1836590782, rs782609482, rs2119089032, rs782237489, rs945343783, rs863224227, rs2490619353, rs782007828, rs781967825, rs781828424, rs2490613891, rs2490628066, rs2490616704, rs782490558, rs782190413, rs863224228, rs863224229, rs863224926, rs782405164, rs864309500, rs2490627975, rs782076866, rs147816470, rs782623477, rs2490628968, rs121918657, rs28933402, rs782316919, rs781970274, rs2490613548, rs1442463591, rs782061187, rs2490613666, rs2490613455, rs781924765, rs2490614044, rs2119081117, rs2490616724, rs2490617017, rs2490623379, rs2490620007, rs2490613924, rs2490613671, rs2490623707, rs1836465016, rs2490616299, rs781948238, rs1219762677, rs2490619546, rs1588693774, rs1196972648, rs1836592105, rs1564351269, rs1836461848, rs2490616999, rs782349178, rs1057517942, rs1057520688, rs782024654, rs782289759, rs1242159511, rs1554768246, rs1410388157, rs1391748504, rs1554768333, rs1053850536, rs1564349176, rs782682492, rs1564349087, rs1588688823, rs1588691786, rs1244071473, rs1588693841, rs1363125797, rs1836430953, rs782601312, rs1433471292, rs1220688120	RCV001775175 RCV001775299 RCV001775414 RCV001779460 RCV001797902 RCV001891793 RCV001889122 RCV001926040 RCV001947811 RCV001878042 RCV001902056 RCV001975167 RCV002010885 RCV002007158 RCV002002511 RCV002027283 RCV002222921 RCV002240096 RCV002240097 RCV002281857 RCV003060711 RCV003058239 RCV003062240 RCV003075102 RCV003079101 RCV002585428 RCV002632699 RCV002650257 RCV002725798 RCV002801572 RCV000534608 RCV000631410 RCV000235063 RCV000258857 RCV000196131 RCV002979667 RCV001804940 RCV003619818 RCV003155662 RCV000235079 RCV000631405 RCV003619837 RCV000589222 RCV001851829 RCV000331329 RCV003510580 RCV003510684 RCV003510923 RCV003511208 RCV003511266 RCV003511460 RCV003511461 RCV003511462 RCV003511463 RCV003509454 RCV003510251 RCV003510179 RCV003620051 RCV003620794 RCV003621048 RCV003621060 RCV003621063 RCV003621003 RCV003621292 RCV003621468 RCV003619152 RCV003619208 RCV003619396 RCV003620271 RCV000312508 RCV003620429 RCV003840984 RCV003864153 RCV003877555 RCV000586290 RCV001290556 RCV003619671 RCV001260417 RCV001379593 RCV001193160 RCV002469177 RCV000560693 RCV000543189 RCV000578241 RCV000587221 RCV000754102 RCV000754104 RCV003155251 RCV000662348 RCV000735985 RCV001242611 RCV000785948 RCV000790941 RCV000797278 RCV000988283 RCV000988284 RCV001051443 RCV001261540 RCV001193157 RCV001193158 RCV001215424	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leigh syndrome due to mitochondrial complex IV deficiency	Pathogenic	rs782316919	RCV000500935	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex IV deficiency, nuclear type 1	Pathogenic; Likely pathogenic	rs2119083553, rs782767225, rs782021521, rs781954439, rs782542152, rs945343783, rs2490619353, rs781828424, rs2490613891, rs782490558, rs782190413, rs863224228, rs863224229, rs864309500, rs2119079774, rs1193858183, rs2490617074, rs2490613354, rs2490612370, rs782509657, rs2490616900, rs2490628954, rs2490627975, rs2490623261, rs781787822, rs2490623421, rs2490613607, rs147816470, rs782623477, rs2490628968, rs1588691694, rs121918657, rs1588689993, rs121918658, rs28933402, rs2119081408, rs782316919, rs2490613666, rs2490613455, rs2490623379, rs782007828, rs2490616999, rs2490616080, rs2490613394, rs2490616670, rs782349178, rs1057517942, rs781948238, rs398122806, rs782788600, rs782289759, rs1131691894, rs1242159511, rs764928653, rs782061187, rs782609482, rs1588693841, rs1836430953	RCV002501874 RCV001806262 RCV002246514 RCV005042510 RCV003136303 RCV005045225 RCV005050721 RCV005045335 RCV005042938 RCV000013605 RCV002492907 RCV000013596 RCV002492908 RCV003389322 RCV003110134 RCV003110135 RCV003110136 RCV003110137 RCV003110138 RCV003110151 RCV003110159 RCV003110167 RCV003110168 RCV003110169 RCV003110170 RCV003110171 RCV003159265 RCV005044488 RCV005049509 RCV003330155 RCV000013595 RCV000013599 RCV000013601 RCV000013602 RCV000013603 RCV000013606 RCV000013607 RCV000013608 RCV005047669 RCV005051338 RCV005047710 RCV003338577 RCV005040587 RCV003988901 RCV003989989 RCV004594971 RCV001849366 RCV004584703 RCV002502493 RCV000022780 RCV002489153 RCV002272252 RCV005044741 RCV005044749 RCV003147496 RCV002248820 RCV002272341 RCV005232022 RCV001260238	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial disease	Likely pathogenic; Pathogenic	rs782190413, rs121918657	RCV003314575 RCV003314553	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscle weakness	Pathogenic	rs782316919	RCV000626844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs782682492	RCV005897395	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SURF1-related disorder	Likely pathogenic; Pathogenic	rs1836590782, rs863224228, rs147816470, rs782316919, rs1588691786	RCV004758881 RCV004554746 RCV004554757 RCV004554601 RCV004554825	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYTOCHROME-C OXIDASE DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ 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
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME , FRENCH CANADIAN TYPE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH CARDIOMYOPATHY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH LEUKODYSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	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	24027061	Associate	★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	34716721	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	12169463	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	12169463	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	24027061	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	24027061		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	16765830, 22410471		★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	11278850, 11279059, 11782424, 12169463, 12812953, 12943968, 15306853, 17908801, 22465034, 24462369, 34627336, 39289458	Associate	★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	10443880, 10556303, 10558868, 10622737, 10647889, 10899453, 11279059, 11317352, 11509016, 11782424, 11955926, 12026244, 12169463, 12566387, 12776230, 12812953, 14557577, 15214016, 16172499, 16225813, 16326995, 16542579, 16601896, 16765830, 17323145, 18583168, 19625251, 19805825, 21266382, 22465034, 22592081, 24262866, 24462369, 26685157, 26804654, 9837813		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	LHGDN	11955926, 14557577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	11279059, 24027061, 27020842	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysarthria	Dysarthria	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16225813, 19780766, 22488715, 23829769, 26443249, 26762927, 9837813		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	15214016		★☆☆☆☆ Found in Text Mining only
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy	CTD_human_DG	16765830		★☆☆☆☆ Found in Text Mining only
Encephalopathy, Subacute Necrotizing, Juvenile	Encephalopathy	CTD_human_DG	16765830		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28428045		★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	BEFREE	11509016, 16222681, 23408181		★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12538779		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12538779		★☆☆☆☆ Found in Text Mining only
Hypocupremia	Hypocupremia	BEFREE	19295170		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	BEFREE	10443880, 10545952, 10556302, 10556303, 10558868, 10622737, 10647889, 10746561, 10805329, 10899453, 11044474, 11279059, 11317352, 11341780, 11409433, 11509016, 11579424, 11782424, 11804207, 11955926, 12026244, 12169463, 12538779, 12566387, 12776230, 12812953, 12943968, 14557577, 14681757, 14970746, 15214016, 16172499, 16222681, 16225813, 16326995, 16542579, 16601896, 16765830, 16773507, 17908801, 18778816, 19135921, 19625251, 19780766, 19805825, 20624914, 21167962, 21266382, 22465034, 22488715, 22729384, 24262866, 25164807, 25351680, 26762927, 26804654, 29481804, 29601977, 29933018, 9837813, 9843204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	CLINGEN_DG	10443880, 10556302, 22488715, 25164807, 27756633, 29601977, 29933018, 9837813, 9843204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	CLINVAR_DG	10558868, 10636738, 10746561, 12515039, 14557577, 16326995, 16542579, 18583168, 18804471, 21611066, 22310368, 22410471, 22488715, 23829769, 24027061, 24462369, 25629267, 26257172, 26341968, 27756633, 27896082, 9837813		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	UNIPROT_DG	10647889, 10746561, 14564068, 21937992, 22410471, 22488715, 9843204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh syndrome	Pubtator	11279059, 11782424, 12169463, 12812953, 12943968, 15269007, 15306853, 17908801, 18582433, 18778816, 19772191, 22465034, 29715184, 33771987, 34627336, 34716721, 34758302, 34821338, 36675121, 39289458	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	LHGDN	12538779, 12812953, 14557577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	CTD_human_DG	16765830		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	GENOMICS_ENGLAND_DG	27604308, 29481804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome French Canadian type	Leigh syndrome	Pubtator	19772191, 22465034	Associate	★☆☆☆☆ Found in Text Mining only
Leigh syndrome , French Canadian type	Leigh syndrome	CTD_human_DG	16326995		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	10443880, 10556302, 22488715, 25164807, 27756633, 29601977, 29933018, 9837813, 9843204		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	10443880, 10556302, 22488715, 25164807, 27756633, 29601977, 29933018, 9837813, 9843204		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	10443880, 10556302, 22488715, 25164807, 27756633, 29601977, 29933018, 9837813, 9843204		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	10443880, 10556302, 22488715, 25164807, 27756633, 29601977, 29933018, 9837813, 9843204		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	10443880, 10556302, 22488715, 25164807, 27756633, 29601977, 29933018, 9837813, 9843204		★☆☆☆☆ Found in Text Mining only
Leigh syndrome with cardiomyopathy	Leigh Syndrome With Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome with leukodystrophy	Leigh Syndrome With Leukodystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Leukodystrophy	BEFREE	11409433, 19805825		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	19805825		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	12566387, 15119951, 19805825, 22729384, 9837813		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	15764605, 24027061	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial encephalopathy	Mitochondrial encephalopathy	BEFREE	16172499		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	12169463	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	16225813, 19780766, 22488715, 23829769, 26443249, 26762927, 9837813		★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	10443880, 10556302, 22488715, 25164807, 27756633, 29601977, 29933018, 9837813, 9843204		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	15306853, 24027061	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11782424, 15269007		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	18582433	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19625251, 19780766, 22465034, 9843204		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	24027061		★☆☆☆☆ Found in Text Mining only
Nonketotic Hyperglycinemia	Nonketotic Hyperglycinemia	BEFREE	25476511		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	22435634, 24027061, 26762927		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	10899453		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	27020842	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	10899453		★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	24027061, 27020842	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	24027061		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	24462369	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
SURF1-related Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	UNIPROT_DG	24027061		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SURF1-related Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	ORPHANET_DG	24027061		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SURF1-related Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SURF1-related Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SURF1-related Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SURF1-related Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only