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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5718
Gene name	Proteasome 26S subunit, non-ATPase 12
Gene symbol	PSMD12
Synonyms (NCBI Gene)	Rpn5STISSp55
Chromosome	17
Chromosome location	17q24.2
Summary	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits a

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs895130488	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, stop gained
rs1114167442	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1114167443	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1114167444	T>C	Pathogenic	Splice acceptor variant, non coding transcript variant
rs1403781576	C>A,G	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs1567954436	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1567955779	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1598560094	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1598563750	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1598574154	GA>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant

130

Show/Hide all (130)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021584	hsa-miR-142-3p	Microarray	17612493
MIRT021773	hsa-miR-132-3p	Microarray	17612493
MIRT031616	hsa-miR-16-5p	Proteomics	18668040
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT1270440	hsa-miR-4742-3p	CLIP-seq
MIRT1270441	hsa-miR-548ac	CLIP-seq
MIRT1270442	hsa-miR-548d-3p	CLIP-seq
MIRT1270443	hsa-miR-548z	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT1270446	hsa-miR-208a	CLIP-seq
MIRT1270447	hsa-miR-208b	CLIP-seq
MIRT1270448	hsa-miR-3617	CLIP-seq
MIRT1270449	hsa-miR-3658	CLIP-seq
MIRT1270450	hsa-miR-371-5p	CLIP-seq
MIRT1270451	hsa-miR-371b-5p	CLIP-seq
MIRT1270452	hsa-miR-4282	CLIP-seq
MIRT1270453	hsa-miR-4294	CLIP-seq
MIRT1270454	hsa-miR-4528	CLIP-seq
MIRT1270455	hsa-miR-4789-5p	CLIP-seq
MIRT1270456	hsa-miR-499-5p	CLIP-seq
MIRT1270441	hsa-miR-548ac	CLIP-seq
MIRT1270442	hsa-miR-548d-3p	CLIP-seq
MIRT1270443	hsa-miR-548z	CLIP-seq
MIRT1270457	hsa-miR-641	CLIP-seq
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT2079482	hsa-miR-3667-5p	CLIP-seq
MIRT2079483	hsa-miR-4263	CLIP-seq
MIRT2079484	hsa-miR-4422	CLIP-seq
MIRT2079485	hsa-miR-4471	CLIP-seq
MIRT2079486	hsa-miR-4509	CLIP-seq
MIRT2079487	hsa-miR-4744	CLIP-seq
MIRT2079488	hsa-miR-4799-5p	CLIP-seq
MIRT2079489	hsa-miR-576-5p	CLIP-seq
MIRT2079490	hsa-miR-590-3p	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT2079491	hsa-miR-617	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT2305768	hsa-miR-132	CLIP-seq
MIRT2305769	hsa-miR-2110	CLIP-seq
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT2305770	hsa-miR-212	CLIP-seq
MIRT2305771	hsa-miR-3150a-3p	CLIP-seq
MIRT2305772	hsa-miR-4271	CLIP-seq
MIRT2079485	hsa-miR-4471	CLIP-seq
MIRT2305773	hsa-miR-4725-3p	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT2079491	hsa-miR-617	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT2305774	hsa-miR-642b	CLIP-seq
MIRT2393149	hsa-miR-105	CLIP-seq
MIRT2393150	hsa-miR-129-5p	CLIP-seq
MIRT2305769	hsa-miR-2110	CLIP-seq
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT2305771	hsa-miR-3150a-3p	CLIP-seq
MIRT2305772	hsa-miR-4271	CLIP-seq
MIRT2079485	hsa-miR-4471	CLIP-seq
MIRT2393151	hsa-miR-450b-5p	CLIP-seq
MIRT2305773	hsa-miR-4725-3p	CLIP-seq
MIRT1270440	hsa-miR-4742-3p	CLIP-seq
MIRT2393152	hsa-miR-507	CLIP-seq
MIRT2393153	hsa-miR-518a-5p	CLIP-seq
MIRT2393154	hsa-miR-527	CLIP-seq
MIRT2393155	hsa-miR-557	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT2305774	hsa-miR-642b	CLIP-seq
MIRT2393156	hsa-miR-767-5p	CLIP-seq
MIRT2393149	hsa-miR-105	CLIP-seq
MIRT2393150	hsa-miR-129-5p	CLIP-seq
MIRT1270446	hsa-miR-208a	CLIP-seq
MIRT1270447	hsa-miR-208b	CLIP-seq
MIRT2305769	hsa-miR-2110	CLIP-seq
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT2305771	hsa-miR-3150a-3p	CLIP-seq
MIRT1270448	hsa-miR-3617	CLIP-seq
MIRT1270449	hsa-miR-3658	CLIP-seq
MIRT1270450	hsa-miR-371-5p	CLIP-seq
MIRT1270451	hsa-miR-371b-5p	CLIP-seq
MIRT2603047	hsa-miR-3974	CLIP-seq
MIRT2305772	hsa-miR-4271	CLIP-seq
MIRT1270452	hsa-miR-4282	CLIP-seq
MIRT1270453	hsa-miR-4294	CLIP-seq
MIRT2079485	hsa-miR-4471	CLIP-seq
MIRT2393151	hsa-miR-450b-5p	CLIP-seq
MIRT2305773	hsa-miR-4725-3p	CLIP-seq
MIRT1270440	hsa-miR-4742-3p	CLIP-seq
MIRT2603048	hsa-miR-4766-5p	CLIP-seq
MIRT2603049	hsa-miR-488	CLIP-seq
MIRT1270456	hsa-miR-499-5p	CLIP-seq
MIRT2393152	hsa-miR-507	CLIP-seq
MIRT2393153	hsa-miR-518a-5p	CLIP-seq
MIRT2393154	hsa-miR-527	CLIP-seq
MIRT2393155	hsa-miR-557	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT1270457	hsa-miR-641	CLIP-seq
MIRT2305774	hsa-miR-642b	CLIP-seq
MIRT2393156	hsa-miR-767-5p	CLIP-seq
MIRT2393149	hsa-miR-105	CLIP-seq
MIRT2393150	hsa-miR-129-5p	CLIP-seq
MIRT1270446	hsa-miR-208a	CLIP-seq
MIRT1270447	hsa-miR-208b	CLIP-seq
MIRT2305769	hsa-miR-2110	CLIP-seq
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT2305771	hsa-miR-3150a-3p	CLIP-seq
MIRT1270448	hsa-miR-3617	CLIP-seq
MIRT1270449	hsa-miR-3658	CLIP-seq
MIRT1270450	hsa-miR-371-5p	CLIP-seq
MIRT1270451	hsa-miR-371b-5p	CLIP-seq
MIRT2603047	hsa-miR-3974	CLIP-seq
MIRT2305772	hsa-miR-4271	CLIP-seq
MIRT1270452	hsa-miR-4282	CLIP-seq
MIRT1270453	hsa-miR-4294	CLIP-seq
MIRT2079485	hsa-miR-4471	CLIP-seq
MIRT2393151	hsa-miR-450b-5p	CLIP-seq
MIRT2305773	hsa-miR-4725-3p	CLIP-seq
MIRT1270440	hsa-miR-4742-3p	CLIP-seq
MIRT2603048	hsa-miR-4766-5p	CLIP-seq
MIRT2603049	hsa-miR-488	CLIP-seq
MIRT1270456	hsa-miR-499-5p	CLIP-seq
MIRT2393152	hsa-miR-507	CLIP-seq
MIRT2393153	hsa-miR-518a-5p	CLIP-seq
MIRT2393154	hsa-miR-527	CLIP-seq
MIRT2393155	hsa-miR-557	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT1270457	hsa-miR-641	CLIP-seq
MIRT2305774	hsa-miR-642b	CLIP-seq
MIRT2393156	hsa-miR-767-5p	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IDA	17323924
GO:0000502	Component	Proteasome complex	IEA
GO:0000502	Component	Proteasome complex	NAS	29636472
GO:0005515	Function	Protein binding	IPI	16990800, 26030138, 28514442, 33961781, 35271311
GO:0005576	Component	Extracellular region	TAS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005838	Component	Proteasome regulatory particle	IEA
GO:0005838	Component	Proteasome regulatory particle	TAS	9426256
GO:0008541	Component	Proteasome regulatory particle, lid subcomplex	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0022624	Component	Proteasome accessory complex	IEA
GO:0022624	Component	Proteasome accessory complex	ISS
GO:0034774	Component	Secretory granule lumen	TAS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
604450	9557	ENSG00000197170

O00232

Protein name

26S proteasome non-ATPase regulatory subunit 12 (26S proteasome regulatory subunit RPN5) (26S proteasome regulatory subunit p55)

Protein function

Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which

PDB

5GJQ , 5GJR , 5L4K , 5LN3 , 5M32 , 5T0C , 5T0G , 5T0H , 5T0I , 5T0J , 5VFP , 5VFQ , 5VFR , 5VFS , 5VFT , 5VFU , 5VGZ , 5VHF , 5VHH , 5VHI , 5VHS , 6MSB , 6MSD , 6MSE , 6MSG , 6MSH , 6MSJ , 6MSK , 6WJD , 6WJN , 7QXN , 7QXP , 7QXU , 7QXW , 7QXX , 7QY7 , 7QYA , 7QYB , 7W37 , 7W38 , 7W39 , 7W3A , 7W3B , 7W3C , 7W3F , 7W3G , 7W3H , 7W3I , 7W3J , 7W3K , 7W3M

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01399	PCI	300 → 417	PCI domain	Domain
PF18098	RPN5_C	422 → 454	26S proteasome regulatory subunit RPN5 C-terminal domain	Domain

Sequence

MADGGSERADGRIVKMEVDYSATVDQRLPECAKLAKEGRLQEVIETLLSLEKQTRTASDM
VSTSRILVAVVKMCYEAKEWDLLNENIMLLSKRRSQLKQAVAKMVQQCCTYVEEITDLPI
KLRLIDTLRMVTEGKIYVEIERARLTKTLATIKEQNGDVKEAASILQELQVETYGSMEKK
ERVEFILEQMRLCLAVKDYIRTQIISKKINTKFFQEENTEKLKLKYYNLMIQLDQHEGSY
LSICKHYRAIYDTPCIQAESEKWQQALKSVVLYVILAPFDNEQSDLVHRISGDKKLEEIP
KYKDLLKLFTTMELMRWSTLVEDYGMELRKGSLESPATDVFGSTEEGEKRWKDLKNRVVE
HNIRIMAKYYTRITMKRMAQLLDLSVDESEAFLSNLVVNKTIFAKVDRLAGIINFQRPKD
PNNLLNDWSQKLNSLMSLVNKTTHLIAKEEMIHNLQ

Sequence length

456

Interactions

View interactions

	KEGG		Reactome
	Proteasome Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Spinocerebellar ataxia Prion disease Pathways of neurodegeneration - multiple diseases Epstein-Barr virus infection		Activation of NF-kappaB in B cells Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Cross-presentation of soluble exogenous antigens (endosomes) Autodegradation of Cdh1 by Cdh1:APC/C SCF-beta-TrCP mediated degradation of Emi1 APC/C:Cdc20 mediated degradation of Securin APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 Cdc20:Phospho-APC/C mediated degradation of Cyclin A Vpu mediated degradation of CD4 Vif-mediated degradation of APOBEC3G SCF(Skp2)-mediated degradation of p27/p21 Degradation of beta-catenin by the destruction complex Downstream TCR signaling Separation of Sister Chromatids FCERI mediated NF-kB activation Autodegradation of the E3 ubiquitin ligase COP1 Regulation of ornithine decarboxylase (ODC) ABC-family proteins mediated transport AUF1 (hnRNP D0) binds and destabilizes mRNA Asymmetric localization of PCP proteins Degradation of AXIN Degradation of DVL Hedgehog ligand biogenesis Hh mutants that don't undergo autocatalytic processing are degraded by ERAD Dectin-1 mediated noncanonical NF-kB signaling CLEC7A (Dectin-1) signaling Degradation of GLI1 by the proteasome GLI3 is processed to GLI3R by the proteasome Hedgehog 'on' state Regulation of RAS by GAPs TNFR2 non-canonical NF-kB pathway NIK-->noncanonical NF-kB signaling Defective CFTR causes cystic fibrosis MAPK6/MAPK4 signaling UCH proteinases Ub-specific processing proteases Neutrophil degranulation CDT1 association with the CDC6:ORC:origin complex Orc1 removal from chromatin CDK-mediated phosphorylation and removal of Cdc6 G2/M Checkpoints Ubiquitin Mediated Degradation of Phosphorylated Cdc25A Ubiquitin-dependent degradation of Cyclin D The role of GTSE1 in G2/M progression after G2 checkpoint FBXL7 down-regulates AURKA during mitotic entry and in early mitosis RUNX1 regulates transcription of genes involved in differentiation of HSCs Regulation of RUNX2 expression and activity Regulation of RUNX3 expression and activity Regulation of PTEN stability and activity Neddylation Interleukin-1 signaling 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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic	rs2041974262	RCV001257776	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PSMD12-related disorder	Likely pathogenic	rs2509685660	RCV003418998	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stankiewicz-Isidor syndrome	Pathogenic; Likely pathogenic	rs2143688328, rs2509679289, rs140191153, rs2509684335, rs1114167442, rs1114167443, rs895130488, rs1114167444, rs1403781576, rs1598574154, rs2041990527	RCV002226841 RCV002795899 RCV003494047 RCV004584581 RCV000490796 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

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.
17Q24.2 MICRODELETION SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spermatogenic failure 18	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (69)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
17q24.2 microdeletion syndrome	17q24.2 microdeletion syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	2243505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29535371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	16947419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	30421579	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30421579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	30421579	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29050215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	10071076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	40528170	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34839279	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36137220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29050215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	35712285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	CTD_human_DG	25724174		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	1320571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30421579, 34906456, 35080150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	7926295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	34906456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	35080150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	34906456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	11732005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	7566386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	7566386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	36076300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	1691591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28132691, 30421579		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	30421579, 34906456	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia, Large Granular Lymphocytic	Lymphoblastic Leukemia	BEFREE	1835747, 2146981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	8445947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	12149223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	1472125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	17901709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29050215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	28132691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29535371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10071076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	8387543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25192599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28132691, 30421579		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-specific syndromic intellectual disability	Syndromic Mental Retardation	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	7933116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus after birth at term	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	2243505		★★★★★ ★☆☆☆☆ 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
Recurrent otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28243236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10088772, 11953970, 1320571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	3138285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
STANKIEWICZ-ISIDOR SYNDROME	STANKIEWICZ-ISIDOR SYNDROME	GENOMICS_ENGLAND_DG	28132691		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
STANKIEWICZ-ISIDOR SYNDROME	STANKIEWICZ-ISIDOR SYNDROME	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PSMD12 (proteasome 26S subunit, non-ATPase 12)