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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79876
Gene name	Ubiquitin like modifier activating enzyme 5
Gene symbol	UBA5
Synonyms (NCBI Gene)	DEE44EIEE44SCAR24THIFP1UBE1DC1
Chromosome	3
Chromosome location	3q22.1
Summary	This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing r

134

Show/Hide all (134)

miRTarBase ID	miRNA	Experiments	Reference
MIRT649462	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT497862	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT497861	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT649461	hsa-miR-6131	HITS-CLIP	23824327
MIRT497860	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT497859	hsa-miR-192-5p	HITS-CLIP	23824327
MIRT497858	hsa-miR-215-5p	HITS-CLIP	23824327
MIRT531728	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT531727	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT497863	hsa-miR-3653-5p	PAR-CLIP	22012620
MIRT497862	hsa-miR-6790-3p	PAR-CLIP	22012620
MIRT497861	hsa-miR-6821-3p	PAR-CLIP	22012620
MIRT497860	hsa-miR-378a-5p	PAR-CLIP	22012620
MIRT497859	hsa-miR-192-5p	PAR-CLIP	22012620
MIRT497858	hsa-miR-215-5p	PAR-CLIP	22012620
MIRT531728	hsa-miR-6843-3p	PAR-CLIP	22012620
MIRT531727	hsa-miR-6848-3p	PAR-CLIP	22012620
MIRT497863	hsa-miR-3653-5p	PAR-CLIP	22291592
MIRT497862	hsa-miR-6790-3p	PAR-CLIP	22291592
MIRT497861	hsa-miR-6821-3p	PAR-CLIP	22291592
MIRT497860	hsa-miR-378a-5p	PAR-CLIP	22291592
MIRT497859	hsa-miR-192-5p	PAR-CLIP	22291592
MIRT497858	hsa-miR-215-5p	PAR-CLIP	22291592
MIRT649462	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT497862	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT497861	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT649461	hsa-miR-6131	HITS-CLIP	23824327
MIRT497860	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT497859	hsa-miR-192-5p	HITS-CLIP	23824327
MIRT497858	hsa-miR-215-5p	HITS-CLIP	23824327
MIRT531728	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT531727	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT497863	hsa-miR-3653-5p	PAR-CLIP	22012620
MIRT497862	hsa-miR-6790-3p	PAR-CLIP	22012620
MIRT497861	hsa-miR-6821-3p	PAR-CLIP	22012620
MIRT497860	hsa-miR-378a-5p	PAR-CLIP	22012620
MIRT497859	hsa-miR-192-5p	PAR-CLIP	22012620
MIRT497858	hsa-miR-215-5p	PAR-CLIP	22012620
MIRT531728	hsa-miR-6843-3p	PAR-CLIP	22012620
MIRT531727	hsa-miR-6848-3p	PAR-CLIP	22012620
MIRT497863	hsa-miR-3653-5p	PAR-CLIP	22291592
MIRT497862	hsa-miR-6790-3p	PAR-CLIP	22291592
MIRT497861	hsa-miR-6821-3p	PAR-CLIP	22291592
MIRT497860	hsa-miR-378a-5p	PAR-CLIP	22291592
MIRT497859	hsa-miR-192-5p	PAR-CLIP	22291592
MIRT497858	hsa-miR-215-5p	PAR-CLIP	22291592
MIRT1466513	hsa-miR-323b-3p	CLIP-seq
MIRT1466514	hsa-miR-499a-5p	CLIP-seq
MIRT1466515	hsa-miR-1305	CLIP-seq
MIRT1466516	hsa-miR-2117	CLIP-seq
MIRT2360989	hsa-miR-4307	CLIP-seq
MIRT2654490	hsa-miR-1243	CLIP-seq
MIRT2654491	hsa-miR-1290	CLIP-seq
MIRT1466515	hsa-miR-1305	CLIP-seq
MIRT2654492	hsa-miR-1306	CLIP-seq
MIRT2654493	hsa-miR-1827	CLIP-seq
MIRT2654494	hsa-miR-224	CLIP-seq
MIRT2654495	hsa-miR-2355-3p	CLIP-seq
MIRT2654496	hsa-miR-2467-3p	CLIP-seq
MIRT2654497	hsa-miR-2682	CLIP-seq
MIRT2654498	hsa-miR-3145-5p	CLIP-seq
MIRT2654499	hsa-miR-3175	CLIP-seq
MIRT2654500	hsa-miR-3613-3p	CLIP-seq
MIRT2654501	hsa-miR-361-3p	CLIP-seq
MIRT2654502	hsa-miR-3654	CLIP-seq
MIRT2654503	hsa-miR-3667-3p	CLIP-seq
MIRT2654504	hsa-miR-3678-3p	CLIP-seq
MIRT2654505	hsa-miR-3679-3p	CLIP-seq
MIRT2654506	hsa-miR-383	CLIP-seq
MIRT2654507	hsa-miR-3926	CLIP-seq
MIRT2654508	hsa-miR-3978	CLIP-seq
MIRT2654509	hsa-miR-421	CLIP-seq
MIRT2654510	hsa-miR-4266	CLIP-seq
MIRT2654511	hsa-miR-4286	CLIP-seq
MIRT2360989	hsa-miR-4307	CLIP-seq
MIRT2654512	hsa-miR-4317	CLIP-seq
MIRT2654513	hsa-miR-4424	CLIP-seq
MIRT2654514	hsa-miR-4457	CLIP-seq
MIRT2654515	hsa-miR-449c	CLIP-seq
MIRT2654516	hsa-miR-4646-3p	CLIP-seq
MIRT2654517	hsa-miR-4700-3p	CLIP-seq
MIRT2654518	hsa-miR-4706	CLIP-seq
MIRT2654519	hsa-miR-4709-5p	CLIP-seq
MIRT2654520	hsa-miR-4731-3p	CLIP-seq
MIRT2654521	hsa-miR-4742-5p	CLIP-seq
MIRT2654522	hsa-miR-4749-5p	CLIP-seq
MIRT2654523	hsa-miR-4753-5p	CLIP-seq
MIRT2654524	hsa-miR-4781-5p	CLIP-seq
MIRT2654525	hsa-miR-4801	CLIP-seq
MIRT2654526	hsa-miR-494	CLIP-seq
MIRT2654527	hsa-miR-5095	CLIP-seq
MIRT2654528	hsa-miR-513a-5p	CLIP-seq
MIRT2654529	hsa-miR-548l	CLIP-seq
MIRT2654530	hsa-miR-548n	CLIP-seq
MIRT2654531	hsa-miR-569	CLIP-seq
MIRT2654532	hsa-miR-607	CLIP-seq
MIRT2654533	hsa-miR-616	CLIP-seq
MIRT2654534	hsa-miR-651	CLIP-seq
MIRT2654535	hsa-miR-676	CLIP-seq
MIRT2654536	hsa-miR-875-3p	CLIP-seq
MIRT2654490	hsa-miR-1243	CLIP-seq
MIRT1466515	hsa-miR-1305	CLIP-seq
MIRT2654492	hsa-miR-1306	CLIP-seq
MIRT2654495	hsa-miR-2355-3p	CLIP-seq
MIRT2654498	hsa-miR-3145-5p	CLIP-seq
MIRT2654499	hsa-miR-3175	CLIP-seq
MIRT2654501	hsa-miR-361-3p	CLIP-seq
MIRT2654502	hsa-miR-3654	CLIP-seq
MIRT2654503	hsa-miR-3667-3p	CLIP-seq
MIRT2654505	hsa-miR-3679-3p	CLIP-seq
MIRT2654506	hsa-miR-383	CLIP-seq
MIRT2654507	hsa-miR-3926	CLIP-seq
MIRT2654508	hsa-miR-3978	CLIP-seq
MIRT2654509	hsa-miR-421	CLIP-seq
MIRT2654510	hsa-miR-4266	CLIP-seq
MIRT2654511	hsa-miR-4286	CLIP-seq
MIRT2360989	hsa-miR-4307	CLIP-seq
MIRT2654513	hsa-miR-4424	CLIP-seq
MIRT2654514	hsa-miR-4457	CLIP-seq
MIRT2654516	hsa-miR-4646-3p	CLIP-seq
MIRT2654517	hsa-miR-4700-3p	CLIP-seq
MIRT2654518	hsa-miR-4706	CLIP-seq
MIRT2654519	hsa-miR-4709-5p	CLIP-seq
MIRT2654520	hsa-miR-4731-3p	CLIP-seq
MIRT2654521	hsa-miR-4742-5p	CLIP-seq
MIRT2654522	hsa-miR-4749-5p	CLIP-seq
MIRT2654523	hsa-miR-4753-5p	CLIP-seq
MIRT2654524	hsa-miR-4781-5p	CLIP-seq
MIRT2654525	hsa-miR-4801	CLIP-seq
MIRT2654527	hsa-miR-5095	CLIP-seq
MIRT2654531	hsa-miR-569	CLIP-seq
MIRT2654534	hsa-miR-651	CLIP-seq
MIRT2654535	hsa-miR-676	CLIP-seq
MIRT2654536	hsa-miR-875-3p	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 20562859, 21900206, 25416956, 26496610, 26872069, 26929408, 27653677, 28514442, 29295865, 29868776, 30412706, 30990354, 32296183, 33961781, 34299007, 35271311, 38225382
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	26872069
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	30990354
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0008270	Function	Zinc ion binding	IDA	27653677, 30412706
GO:0008641	Function	Ubiquitin-like modifier activating enzyme activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	ISS
GO:0030219	Process	Megakaryocyte differentiation	IEA
GO:0030219	Process	Megakaryocyte differentiation	ISS
GO:0032649	Process	Regulation of type II interferon production	IEA
GO:0033146	Process	Regulation of intracellular estrogen receptor signaling pathway	IMP	25219498
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	23152784
GO:0034976	Process	Response to endoplasmic reticulum stress	IMP	32160526
GO:0042803	Function	Protein homodimerization activity	IDA	27653677, 29295865
GO:0046872	Function	Metal ion binding	IEA
GO:0050905	Process	Neuromuscular process	IGI	26872069
GO:0061709	Process	Reticulophagy	IMP	32160526
GO:0071566	Function	UFM1 activating enzyme activity	IBA
GO:0071566	Function	UFM1 activating enzyme activity	IDA	15071506, 27653677, 29295865, 30412706, 34588452
GO:0071566	Function	UFM1 activating enzyme activity	IEA
GO:0071566	Function	UFM1 activating enzyme activity	IMP	27545681
GO:0071569	Process	Protein ufmylation	IBA
GO:0071569	Process	Protein ufmylation	IDA	20018847, 30886146, 32160526
GO:0071569	Process	Protein ufmylation	IDA	15071506, 26929408, 27653677, 29295865, 30412706, 34588452
GO:0071569	Process	Protein ufmylation	IEA
GO:0071569	Process	Protein ufmylation	IMP	23152784, 29868776
GO:0071569	Process	Protein ufmylation	IMP	27545681, 30626644, 32160526
GO:1990592	Process	Protein K69-linked ufmylation	IDA	25219498

MIM	HGNC	e!Ensembl
610552	23230	ENSG00000081307

Q9GZZ9

Protein name

Ubiquitin-like modifier-activating enzyme 5 (Ubiquitin-activating enzyme 5) (ThiFP1) (UFM1-activating enzyme) (Ubiquitin-activating enzyme E1 domain-containing protein 1)

Protein function

E1-like enzyme which specifically catalyzes the first step in ufmylation (PubMed:15071506, PubMed:18442052, PubMed:20368332, PubMed:25219498, PubMed:26929408, PubMed:27545674, PubMed:27545681, PubMed:27653677, PubMed:30412706, PubMed:30626644, P

PDB

3GUC , 3H8V , 5HKH , 5IA8 , 5IAA , 5L95 , 6H77 , 6H78 , 6H8C , 7NVK , 7NW1 , 7OVC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00899	ThiF	53 → 310	ThiF family	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16328888}.

Sequence

MAESVERLQQRVQELERELAQERSLQVPRSGDGGGGRVRIEKMSSEVVDSNPYSRLMALK
RMGIVSDYEKIRTFAVAIVGVGGVGSVTAEMLTRCGIGKLLLFDYDKVELANMNRLFFQP
HQAGLSKVQAAEHTLRNINPDVLFEVHNYNITTVENFQHFMDRISNGGLEEGKPVDLVLS
CVDNFEARMTINTACNELGQTWMESGVSENAVSGHIQLIIPGESACFACAPPLVVAANID
EKTLKREGVCAASLPTTMGVVAGILVQNVLKFLLNFGTVSFYLGYNAMQDFFPTMSMKPN
PQCDDRNCRKQQEEYKKKVAALPKQEVIQEEEEIIHEDNEWGIELVSEVSEEELKNFSGP
VPDLPEGITVAYTIPKKQEDSVTELTVEDSGESLEDLMAKMKNM

Sequence length

404

Interactions

View interactions

	Reactome
			Antigen processing: Ubiquitination & Proteasome degradation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs114925667, rs2530315359	RCV000825503 RCV004018099	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 44	Pathogenic; Likely pathogenic	rs2107943727, rs762779162, rs61748106, rs2107921941, rs2107922089, rs2530303960, rs114925667, rs774318611, rs745968949, rs886039756, rs374052333, rs886039757, rs886039758, rs886039759, rs886039760 View all (5 more)	RCV001374854 RCV005023193 RCV001844311 RCV002246799 RCV002246800 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs114925667	RCV005625492	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia, autosomal recessive 24	Likely pathogenic; Pathogenic	rs762779162, rs114925667, rs374052333, rs540839115, rs886039762, rs2530325660	RCV005023193 RCV000626058 RCV000626057 RCV000255643 RCV000254733 RCV003883350 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell carcinoma of the head and neck	Likely pathogenic	rs1313071575	RCV005898559	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UBA5-related disorder	Likely pathogenic; Pathogenic	rs114925667, rs886039757, rs540839115, rs766932828	RCV003323484 RCV004547652 RCV004739644 RCV004740644	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (82)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Actinic keratosis	Actinic keratosis	BEFREE	30105812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	32179706, 33811063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28965491, 29868776, 33811063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31171715, 35680375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34572561	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	30078785		★★★★★ ★☆☆☆☆ 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
Cholestasis	Cholestasis	CTD_human_DG	26881866		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital torticollis	Congenital Torticollis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	27545674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33811063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	27545681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	33811063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	27545674, 27545681, 29868776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32179706, 33811063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	28965491, 29663568, 30078785		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44	Epileptic encephalopathy	UNIPROT_DG	27545674, 27545681		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44	Epileptic encephalopathy	CLINVAR_DG	27545674, 27545681		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27545674, 27545681		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	29847346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27545674		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27545681		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	32179706	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
leukemia	Leukemia	BEFREE	31597257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28186401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	27545681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	29868776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	29868776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	32179706, 33811063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25219498		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26872069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	CLINVAR_DG			★★★★★ ★☆☆☆☆ 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
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28186401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	32179706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	28965491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24	Spinocerebellar Ataxia	UNIPROT_DG	26872069		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24	Spinocerebellar Ataxia	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	30105812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	30078785		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	CLINVAR_DG	27545674, 27545681, 27926783, 28965491		★★★★★ ★☆☆☆☆ Found in Text Mining only

UBA5 (ubiquitin like modifier activating enzyme 5)