NGLY1 (N-glycanase 1)

Gene

• Entrez ID: 55768
• Gene name: N-glycanase 1
• Gene symbol: NGLY1
• Synonyms (NCBI Gene): CDDG, CDG1V, PNG-1, PNG1, PNGase
• Chromosome: 3
• Chromosome location: 3p24.2
• Summary: This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-media

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs146140738	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs200561967	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs201337954	T>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs201791209	C>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs528583612	G>A	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, genic downstream transcript variant, stop gained
rs532007026	C>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs587776982	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant, genic downstream transcript variant
rs587777265	->C	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs587777266	TCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs745814294	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant
rs755009745	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs757712371	T>C,G	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs761634625	GCT>-	Likely-pathogenic	Inframe indel, non coding transcript variant, coding sequence variant
rs765211108	ATTG>-	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs767388144	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs768131676	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs771354261	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs772184143	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs772994617	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs907852687	G>C,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs992161646	C>A	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, stop gained
rs1060499777	A>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1135401728	C>G,T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1135401729	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1135401730	A>-	Pathogenic, likely-pathogenic	3 prime UTR variant, stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1135401731	C>A	Pathogenic	Intron variant
rs1261363915	C>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant, intron variant
rs1375323331	TCGATTGCTGAACTGGC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1470912253	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1553649843	T>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, 3 prime UTR variant, coding sequence variant
rs1553652151	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553666033	C>-	Pathogenic	Upstream transcript variant, non coding transcript variant, intron variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1575612023	ACAAAGGT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575614945	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained, non coding transcript variant
rs1575616394	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575622147	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575650389	C>T	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045306	hsa-miR-186-5p	CLASH	23622248
MIRT1184201	hsa-miR-383	CLIP-seq
MIRT1184202	hsa-miR-4266	CLIP-seq
MIRT1184203	hsa-miR-4735-5p	CLIP-seq
MIRT1184204	hsa-miR-4772-5p	CLIP-seq
MIRT1184205	hsa-miR-548c-3p	CLIP-seq
MIRT1184206	hsa-miR-124	CLIP-seq
MIRT1184207	hsa-miR-3714	CLIP-seq
MIRT1184208	hsa-miR-3910	CLIP-seq
MIRT1184209	hsa-miR-506	CLIP-seq
MIRT1184210	hsa-miR-579	CLIP-seq
MIRT2282620	hsa-miR-1183	CLIP-seq
MIRT2282621	hsa-miR-1293	CLIP-seq
MIRT2282622	hsa-miR-142-5p	CLIP-seq
MIRT2282623	hsa-miR-23a	CLIP-seq
MIRT2282624	hsa-miR-23b	CLIP-seq
MIRT2282625	hsa-miR-23c	CLIP-seq
MIRT2282626	hsa-miR-3146	CLIP-seq
MIRT2282627	hsa-miR-340	CLIP-seq
MIRT2282628	hsa-miR-433	CLIP-seq
MIRT2282629	hsa-miR-4483	CLIP-seq
MIRT2282630	hsa-miR-4666-5p	CLIP-seq
MIRT2282631	hsa-miR-4775	CLIP-seq
MIRT2282632	hsa-miR-4795-3p	CLIP-seq
MIRT2282633	hsa-miR-590-3p	CLIP-seq
MIRT2282634	hsa-miR-621	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000224	Function	Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	IBA
GO:0000224	Function	Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	IEA
GO:0000224	Function	Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	IGI	28826503
GO:0000224	Function	Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	TAS
GO:0005515	Function	Protein binding	IPI	15358861, 22119785, 25416956, 28514442, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IDA	15358861
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006457	Process	Protein folding	TAS
GO:0006516	Process	Glycoprotein catabolic process	IBA
GO:0006516	Process	Glycoprotein catabolic process	IDA	15358861
GO:0006516	Process	Glycoprotein catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	IBA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 610661
• HGNC: 17646
• e!Ensembl: ENSG00000151092

Protein

• UniProt ID: Q96IV0
• Protein name: Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase (PNGase) (hPNGase) (EC 3.5.1.52) (N-glycanase 1) (Peptide:N-glycanase)
• Protein function: Specifically deglycosylates the denatured form of N-linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation. Cleaves the beta-aspartyl-glucosamine (GlcNAc) of the glycan and the amide side chain of Asn, converting
• PDB: 2CCQ, 2CM0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09409	PUB	25 → 103	PUB domain	Domain
  PF01841	Transglut_core	258 → 354	Transglutaminase-like superfamily	Family
  PF04721	PAW	457 → 651	PNGase C-terminal domain, mannose-binding module PAW	Domain

• Sequence:

  MAAAALGSSSGSASPAVAELCQNTPETFLEASKLLLTYADNILRNPNDEKYRSIRIGNTA
  FSTRLLPVRGAVECLFEMGFEEGETHLIFPKKASVEQLQKIRDLIAIERSSRLDGSNKSH
  KVKSSQQPAASTQLPTTPSSNPSGLNQHTRNRQGQSSDPPSASTVAADSAILEVLQSNIQ
  HVLVYENPALQEKALACIPVQELKRKSQEKLSRARKLDKGINISDEDFLLLELLHWFKEE
  FFHWVNNVLCSKCGGQTRSRDRSLLPSDDELKWGAKEVEDHYCDACQFSNRFPRYNNPEK
  LLETRCGRCGEWANCFTLCCRAVGFEARYVWDYTDHVWTEVYSPSQQRWLHCDACEDVCD
  KPLLYEIGWGKKLSYVIAFSKDEVVDVTWRYSCKHEEVIARRTKVKEALLRDTINGLNKQ
  RQLFLSENRRKELLQRIIVELVEFISPKTPKPGELGGRISGSVAWRVARGEMGLQRKETL
  FIPCENEKISKQLHLCYNIVKDRYVRVSNNNQTISGWENGVWKMESIFRKVETDWHMVYL
  ARKEGSSFAYISWKFECGSVGLKVDSISIRTSSQTFQTGTVEWKLRSDTAQVELTGDNSL
  HSYADFSGATEVILEAELSRGDGDVAWQHTQLFRQSLNDHEENCLEIIIKFSDL

• Sequence length: 654

Pathways

KEGG:

Protein processing in endoplasmic reticulum

Reactome:

N-glycan trimming in the ER and Calnexin/Calreticulin cycle

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 brain morphology	Likely pathogenic	rs1060499777	RCV000454236	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital disorder of deglycosylation	Likely pathogenic; Pathogenic	rs2125460077, rs765145201, rs2125442838, rs1705416478, rs2125459914, rs2125478800, rs2125321733, rs376678889, rs2125442722, rs587777265, rs587777266, rs528583612, rs2125466047, rs762131179, rs750294252, rs2125442902, rs2125459806, rs2125459623, rs2125479237, rs751805500, rs2125478810, rs1383370693, rs753912717, rs2470478564, rs1705409477, rs2470481181, rs1478199796, rs1135401730, rs767388144, rs201791209, rs1135401731, rs1135401729, rs200561967, rs907852687, rs1487912297, rs2470674668, rs765889601, rs2470481702, rs1217945461, rs2470752384, rs1705687680, rs2470509797, rs2470675305, rs2470776873, rs2470510113, rs2470481119, rs2470552807, rs754379411, rs1353485252, rs748353137, rs2470536051, rs2470542595, rs2470553502, rs2470675573, rs2470600674, rs2470600721, rs2470673591, rs2470675769, rs2470481101, rs2470481718, rs1559544313, rs1182383020, rs755653950, rs1043604336, rs1211534165, rs532007026, rs772994617, rs768131676, rs1553652151, rs1553666033, rs1375323331, rs765211108, rs146140738, rs1575650389, rs1575612023, rs587776982, rs201337954, rs992161646, rs1575614945, rs757712371, rs1470912253, rs1575616394, rs755009745, rs1135401728, rs1706033199, rs756045177, rs1706021603, rs1705803915, rs1704873196	RCV001377043 RCV001383326 RCV001386057 RCV001390877 RCV001381919 RCV001383339 RCV001384997 RCV001821867 RCV003741278 RCV000114362 RCV000114363 RCV000114364 RCV001807983 RCV001887334 RCV001921089 RCV001993184 RCV001942125 RCV001883252 RCV001975014 RCV001972519 RCV001896433 RCV003111692 RCV002695411 RCV002839251 RCV002928151 RCV002970806 RCV003036530 RCV000496180 RCV000496208 RCV000496158 RCV000496154 RCV000496137 RCV000496134 RCV000496176 RCV003123511 RCV003236264 RCV003581910 RCV003582251 RCV003582470 RCV003581376 RCV003581216 RCV003581265 RCV003582690 RCV003582759 RCV003582927 RCV003582801 RCV003582028 RCV003741363 RCV003741361 RCV003741644 RCV003741714 RCV003741696 RCV003741765 RCV003742015 RCV003741985 RCV003741986 RCV003742235 RCV003742261 RCV003742264 RCV003742308 RCV003742447 RCV003740730 RCV003742510 RCV003740781 RCV003740881 RCV003740833 RCV000763511 RCV000543687 RCV000651488 RCV002532690 RCV003741212 RCV000651484 RCV000699456 RCV000802056 RCV000796100 RCV000824894 RCV000043662 RCV000043663 RCV000991415 RCV000995586 RCV000995587 RCV001860591 RCV001860596 RCV001213883 RCV001027428 RCV001046154 RCV001242867 RCV001270699 RCV001270700 RCV001270701	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital disorder of deglycosylation 1	Likely pathogenic; Pathogenic	rs2125321733, rs376678889, rs2125442722, rs528583612, rs2125442902, rs2470672967, rs1383370693, rs200561967, rs2470535952, rs765492483, rs2470552567, rs2470553648, rs532007026, rs772994617, rs768131676, rs1553666033, rs765211108, rs146140738, rs587776982, rs201337954, rs757712371, rs762276611	RCV005023144 RCV005038257 RCV003147674 RCV005025175 RCV005025509 RCV002283973 RCV003992727 RCV005025336 RCV003325266 RCV004554919 RCV004554920 RCV004555912 RCV004760485 RCV005034113 RCV004796241 RCV005027733 RCV002468595 RCV003338810 RCV003147331 RCV002477142 RCV002468613 RCV002471069	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs765211108	RCV000662298	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic	rs772184143	RCV005898560	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Likely pathogenic	rs762276611	RCV001264673	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic; Likely pathogenic	rs2125485574, rs201791209	RCV002274358 RCV002273988	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuromotor delay	Pathogenic	rs765211108	RCV000662298	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NGLY1-related disorder	Pathogenic	rs1043604336	RCV004756541	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral neuropathy	Pathogenic	rs765211108	RCV000662298	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Likely benign; Benign; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal growth restriction	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lactic acidosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alacrima	Alacrima	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alacrimia-choreoathetosis-liver dysfunction syndrome	Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	25220016	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30867060		★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	32265286	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	35322011	Associate	★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	BEFREE	26350515		★☆☆☆☆ 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
Cognitive Dysfunction	Cognition disorder	Pubtator	25220016, 31957011	Associate	★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	27388694	Associate	★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	31957011	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	32265286, 32576142	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Opacity	Corneal opacity	Pubtator	25220016	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Ulcer	Corneal Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	28512024	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25900930, 27388694, 28512024, 32265286, 32576142, 36528660, 38039131	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11562482, 12711318, 17088551, 22581936, 24651605, 27388694		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	25707956		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	31957011	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32576142	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal Tonic Seizures	Focal Tonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	29865036		★☆☆☆☆ Found in Text Mining only
Gelastic Epilepsy	Epilepsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28512024, 29346549, 30135079		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperkinesis	Hyperkinesia	Pubtator	27388694, 28512024	Associate	★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	25707956		★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotriglyceridemia	Hypotriglyceridemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	25220016, 31957011, 32576142, 38039131	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lagopthalmos	Lagopthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	36948524	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	24651605	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	28512024	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29865036		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30385822		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30385822		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	33057211	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35322011	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micronodular cirrhosis	Micronodular cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	31957011, 38039131	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	11562482, 12711318, 17088551, 22581936, 24651605, 27388694		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	32265286, 36528660	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30385822		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25220016, 31957011, 38039131	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	32265286	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	25220016		★☆☆☆☆ Found in Text Mining only
NGLY1 deficiency	NGLY1 Deficiency	CLINVAR_DG	22581936, 24651605, 25220016, 25900930, 26350515, 26795593, 27388694, 28330790		★☆☆☆☆ Found in Text Mining only
NGLY1 deficiency	NGLY1 Deficiency	CLINGEN_DG	22581936, 24651605, 25220016, 25605922, 25707956, 25900930, 26350515		★☆☆☆☆ Found in Text Mining only
NGLY1 deficiency	NGLY1 Deficiency	GENOMICS_ENGLAND_DG	24651605, 25605922, 25707956		★☆☆☆☆ Found in Text Mining only
NGLY1 deficiency	NGLY1 Deficiency	ORPHANET_DG	24651605		★☆☆☆☆ Found in Text Mining only
NGLY1 deficiency	NGLY1 Deficiency	BEFREE	27388694, 28426790, 29346549, 29550355, 30612078, 31311714, 31733337		★☆☆☆☆ Found in Text Mining only
NGLY1 deficiency	NGLY1 Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	38039131	Inhibit	★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	27388694	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	25707956		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	25220016	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	25900930	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	CLINVAR_DG	25220016		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyneuropathies	Polyneuropathy	Pubtator	31957011	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	27388694	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	25707956		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	24651605, 25900930, 28512024, 32265286, 32576142, 38039131	Associate	★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29865036		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tarsal sclerosis	Tarsal sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26350515	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only