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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	65109
Gene name	UPF3B regulator of nonsense mediated mRNA decay
Gene symbol	UPF3B
Synonyms (NCBI Gene)	HUPF3BMRX62MRX82MRXS14RENT3BUPF3BP1UPF3BP2UPF3BP3UPF3XUpf3p-X
Chromosome	X
Chromosome location	Xq24
Summary	This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs wit

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs122468181	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs122468182	A>C	Pathogenic	Coding sequence variant, missense variant
rs143538947	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs794727881	TTCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064794254	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691699	CTTCTCTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556377028	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569464167	->T	Likely-pathogenic	Frameshift variant, initiator codon variant
rs1603370185	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603371016	AATT>-	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (93)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029393	hsa-miR-26b-5p	Microarray	19088304
MIRT1476212	hsa-miR-1343	CLIP-seq
MIRT1476213	hsa-miR-185	CLIP-seq
MIRT1476214	hsa-miR-330-3p	CLIP-seq
MIRT1476215	hsa-miR-3667-3p	CLIP-seq
MIRT1476216	hsa-miR-3690	CLIP-seq
MIRT1476217	hsa-miR-4254	CLIP-seq
MIRT1476218	hsa-miR-4306	CLIP-seq
MIRT1476219	hsa-miR-4330	CLIP-seq
MIRT1476220	hsa-miR-4644	CLIP-seq
MIRT1476221	hsa-miR-501-3p	CLIP-seq
MIRT1476222	hsa-miR-502-3p	CLIP-seq
MIRT1476223	hsa-miR-548q	CLIP-seq
MIRT2143500	hsa-miR-3140-3p	CLIP-seq
MIRT2363692	hsa-miR-3074-5p	CLIP-seq
MIRT2363693	hsa-miR-3614-5p	CLIP-seq
MIRT2363694	hsa-miR-370	CLIP-seq
MIRT2363695	hsa-miR-4731-3p	CLIP-seq
MIRT2363696	hsa-miR-4801	CLIP-seq
MIRT2363697	hsa-miR-514	CLIP-seq
MIRT2363698	hsa-miR-514b-3p	CLIP-seq
MIRT2363699	hsa-miR-550b	CLIP-seq
MIRT2363700	hsa-miR-642b	CLIP-seq
MIRT2657382	hsa-miR-1184	CLIP-seq
MIRT2657383	hsa-miR-1205	CLIP-seq
MIRT2657384	hsa-miR-1226	CLIP-seq
MIRT2657385	hsa-miR-124	CLIP-seq
MIRT2657386	hsa-miR-146b-3p	CLIP-seq
MIRT2657387	hsa-miR-204	CLIP-seq
MIRT2657388	hsa-miR-211	CLIP-seq
MIRT2363692	hsa-miR-3074-5p	CLIP-seq
MIRT2657389	hsa-miR-3117-5p	CLIP-seq
MIRT2657390	hsa-miR-3157-3p	CLIP-seq
MIRT2657391	hsa-miR-3158-5p	CLIP-seq
MIRT2657392	hsa-miR-3173-5p	CLIP-seq
MIRT2657393	hsa-miR-3674	CLIP-seq
MIRT2363694	hsa-miR-370	CLIP-seq
MIRT2657394	hsa-miR-383	CLIP-seq
MIRT2657395	hsa-miR-3908	CLIP-seq
MIRT2657396	hsa-miR-4282	CLIP-seq
MIRT2657397	hsa-miR-4287	CLIP-seq
MIRT2657398	hsa-miR-4493	CLIP-seq
MIRT2657399	hsa-miR-4539	CLIP-seq
MIRT2657400	hsa-miR-4685-3p	CLIP-seq
MIRT2657401	hsa-miR-4720-3p	CLIP-seq
MIRT2363695	hsa-miR-4731-3p	CLIP-seq
MIRT2657402	hsa-miR-4768-5p	CLIP-seq
MIRT2657403	hsa-miR-4772-5p	CLIP-seq
MIRT2657404	hsa-miR-4775	CLIP-seq
MIRT2657405	hsa-miR-4782-5p	CLIP-seq
MIRT2363696	hsa-miR-4801	CLIP-seq
MIRT2657406	hsa-miR-4804-3p	CLIP-seq
MIRT2657407	hsa-miR-506	CLIP-seq
MIRT2363697	hsa-miR-514	CLIP-seq
MIRT2363698	hsa-miR-514b-3p	CLIP-seq
MIRT2657408	hsa-miR-518a-5p	CLIP-seq
MIRT2657409	hsa-miR-527	CLIP-seq
MIRT2363699	hsa-miR-550b	CLIP-seq
MIRT2657410	hsa-miR-634	CLIP-seq
MIRT2363700	hsa-miR-642b	CLIP-seq
MIRT2657411	hsa-miR-874	CLIP-seq
MIRT2657382	hsa-miR-1184	CLIP-seq
MIRT2657383	hsa-miR-1205	CLIP-seq
MIRT2657384	hsa-miR-1226	CLIP-seq
MIRT2657385	hsa-miR-124	CLIP-seq
MIRT2657386	hsa-miR-146b-3p	CLIP-seq
MIRT2657387	hsa-miR-204	CLIP-seq
MIRT2657388	hsa-miR-211	CLIP-seq
MIRT2657389	hsa-miR-3117-5p	CLIP-seq
MIRT2657390	hsa-miR-3157-3p	CLIP-seq
MIRT2657391	hsa-miR-3158-5p	CLIP-seq
MIRT2657392	hsa-miR-3173-5p	CLIP-seq
MIRT2657393	hsa-miR-3674	CLIP-seq
MIRT2657394	hsa-miR-383	CLIP-seq
MIRT2657395	hsa-miR-3908	CLIP-seq
MIRT2657396	hsa-miR-4282	CLIP-seq
MIRT2657397	hsa-miR-4287	CLIP-seq
MIRT2657398	hsa-miR-4493	CLIP-seq
MIRT2657399	hsa-miR-4539	CLIP-seq
MIRT2657400	hsa-miR-4685-3p	CLIP-seq
MIRT2363695	hsa-miR-4731-3p	CLIP-seq
MIRT2657402	hsa-miR-4768-5p	CLIP-seq
MIRT2657403	hsa-miR-4772-5p	CLIP-seq
MIRT2657404	hsa-miR-4775	CLIP-seq
MIRT2657405	hsa-miR-4782-5p	CLIP-seq
MIRT2363696	hsa-miR-4801	CLIP-seq
MIRT2657407	hsa-miR-506	CLIP-seq
MIRT2657408	hsa-miR-518a-5p	CLIP-seq
MIRT2657409	hsa-miR-527	CLIP-seq
MIRT2363699	hsa-miR-550b	CLIP-seq
MIRT2657410	hsa-miR-634	CLIP-seq
MIRT2363700	hsa-miR-642b	CLIP-seq
MIRT2657411	hsa-miR-874	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
SATB2	Activation	23925499

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IBA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA	16601204
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	18369367
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	NAS	11163187
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0003729	Function	MRNA binding	IDA	11163187, 11546873
GO:0005515	Function	Protein binding	IPI	11163187, 11546873, 11546874, 12417715, 15231747, 15361857, 15680326, 16209946, 16452507, 16601204, 18066079, 19410547, 19417104, 19478851, 19503078, 19864460, 20479275, 20930030, 22522823, 23084401, 23788676, 25220460, 26496610, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11163187
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	11163187
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0007420	Process	Brain development	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0035145	Component	Exon-exon junction complex	IDA	11546873, 12718880, 16601204
GO:0035145	Component	Exon-exon junction complex	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045727	Process	Positive regulation of translation	IBA
GO:0045727	Process	Positive regulation of translation	IDA	16601204
GO:0045727	Process	Positive regulation of translation	IEA
GO:0051028	Process	MRNA transport	IEA
GO:1905746	Process	Positive regulation of mRNA cis splicing, via spliceosome	IEA

MIM	HGNC	e!Ensembl
300298	20439	ENSG00000125351

Q9BZI7

Protein name

Regulator of nonsense transcripts 3B (Nonsense mRNA reducing factor 3B) (Up-frameshift suppressor 3 homolog B) (hUpf3B) (Up-frameshift suppressor 3 homolog on chromosome X) (hUpf3p-X)

Protein function

Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of

PDB

1UW4 , 2XB2 , 7NWU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03467	Smg4_UPF3	48 → 209	Smg-4/UPF3 family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in testis, uterus, prostate, heart, muscle, brain, spinal cord and placenta. {ECO:0000269|PubMed:11113196}.

Sequence

MKEEKEHRPKEKRVTLLTPAGATGSGGGTSGDSSKGEDKQDRNKEKKEALSKVVIRRLPP
TLTKEQLQEHLQPMPEHDYFEFFSNDTSLYPHMYARAYINFKNQEDIILFRDRFDGYVFL
DNKGQEYPAIVEFAPFQKAAKKKTKKRDTKVGTIDDDPEYRKFLESYATDNEKMTSTPET
LLEEIEAKNRELIAKKTTPLLSFLKNKQRMREEKREERRRREIERKRQREEERRKWKEEE
KRKRKDIEKLKKIDRIPERDKLKDEPKIKVHRFLLQAVNQKNLLKKPEKGDEKELDKREK
AKKLDKENLSDERASGQSCTLPKRSDSELKDEKPKRPEDESGRDYREREREYERDQERIL
RERERLKRQEEERRRQKERYEKEKTFKRKEEEMKKEKDTLRDKGKKAESTESIGSSEKTE
KKEEVVKRDRIRNKDRPAMQLYQPGARSRNRLCPPDDSTKSGDSAAERKQESGISHRKEG
GEE

Sequence length

483

Interactions

View interactions

	KEGG		Reactome
	Nucleocytoplasmic transport mRNA surveillance pathway		Transport of Mature mRNA derived from an Intron-Containing Transcript mRNA Splicing - Major Pathway mRNA 3'-end processing RNA Polymerase II Transcription Termination Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

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 (4)

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	rs2056119926	RCV001260817	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic X-linked intellectual disability 14	Pathogenic; Likely pathogenic	rs2147787295, rs2147787331, rs376175156, rs2147783395, rs2521574129, rs1480554912, rs794727881, rs2521577196, rs1603370185, rs122468181, rs122468182, rs2521576667, rs2521545000, rs1064794254, rs1556377028 View all (3 more)	RCV005094884 RCV001785117 RCV001784011 RCV002273274 RCV002294578 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
UPF3B-associated intellectual disability	Pathogenic	rs794727881	RCV001787090	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UPF3B-related disorder	Likely pathogenic	rs376175156	RCV004731180	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (26)

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.
Cataract	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; -	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED, SYNDROMIC 14	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SYNDROMIC X-LINKED INTELLECTUAL DISABILITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe global developmental delay	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (72)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	32667670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	23821644, 28948974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28948974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG	17704778, 19238151, 22609145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	19238151, 23638902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	26012578	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36194583, 40621461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	37797718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	26060332	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG	17704778, 19238151, 22609145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26012578, 32667670, 35640974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	31737052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34257547, 36194583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	17704778, 19238151, 22609145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	22609145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	29334995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	29334995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	17704778, 19238151, 22182939, 22957832, 23376982, 23638902, 23821644, 28948974, 31737052		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	22182939, 25649377, 26012578, 35640974	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Diseases	Kidney disease	Pubtator	36194583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lujan Fryns syndrome	Lujan-Fryns Syndrome	ORPHANET_DG	17704778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lujan-Fryns syndrome	Lujan-Fryns Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	36194583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	17704778, 19238151, 22957832, 23638902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	15526294, 17704778, 19238151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	15526294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	CTD_human_DG	17704778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	17704778, 19238151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked, Syndromic 14	Mental retardation	CLINVAR_DG	17704778, 19238151, 22609145		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked, Syndromic 14	Mental retardation	UNIPROT_DG	17704778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked, Syndromic 14	Mental retardation	GENOMICS_ENGLAND_DG	17704778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked, Syndromic 14	Mental retardation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	23638902		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28948974		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON RARE IN EUROPE: FG syndrome phenotypic spectrum	FG Syndrome Phenotypic Spectrum	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	BEFREE	22609145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	22609145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	26012578	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28948974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia, Childhood	Schizophrenia	BEFREE	23821644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

UPF3B (UPF3B regulator of nonsense mediated mRNA decay)