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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54551
Gene name	MAGE family member L2
Gene symbol	MAGEL2
Synonyms (NCBI Gene)	NDNL1PWLSSHFYNGnM15
Chromosome	15
Chromosome location	15q11.2
Summary	Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the term

Show/Hide all (42)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2233061	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs34875116	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs115892604	C>G	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146970674	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398122415	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs398122416	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs398122417	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs398122418	G>A	Pathogenic	Coding sequence variant, stop gained
rs528108868	ATCGGCTGTGCAGGTGGGGCC>-,ATCGGCTGTGCAGGTGGGGCCATCGGCTGTGCAGGTGGGGCC	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion, inframe deletion
rs570335069	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs752097874	G>A,C,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs760039339	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs770374710	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs771501846	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs781777662	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs794726941	GGGTGGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCAC>-,GGGTGGGGCCTGGCGGATCAC	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe deletion
rs797044883	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs866419580	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs869312694	C>A	Pathogenic	Coding sequence variant, stop gained
rs886041598	G>T	Pathogenic	Coding sequence variant, stop gained
rs886041955	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1060499934	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1249139977	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs1250752332	->TG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1350074368	T>C,G	Likely-pathogenic	Initiator codon variant, missense variant
rs1386125417	GTGGGGCCTGGCGGATCACAG>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe deletion
rs1432429004	TC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555374117	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555374125	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555374227	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555374254	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1555374290	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555374335	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1566783684	C>T	Pathogenic	Coding sequence variant, stop gained
rs1566784441	C>T	Pathogenic	Coding sequence variant, stop gained
rs1595331427	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1595331599	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595332359	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1595332462	GCCTGCAAGACTGCAGGCGGTGCCTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595332731	G>T	Pathogenic	Coding sequence variant, stop gained
rs1595334202	GGCAGG>CAGGGGCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595334203	->G	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (35)

miRTarBase ID	miRNA	Experiments	Reference
MIRT525999	hsa-miR-4760-3p	PAR-CLIP	22012620
MIRT525998	hsa-miR-6858-3p	PAR-CLIP	22012620
MIRT525997	hsa-miR-664a-3p	PAR-CLIP	22012620
MIRT525996	hsa-miR-4719	PAR-CLIP	22012620
MIRT525995	hsa-miR-513b-5p	PAR-CLIP	22012620
MIRT525993	hsa-miR-5696	PAR-CLIP	22012620
MIRT525994	hsa-miR-579-3p	PAR-CLIP	22012620
MIRT525992	hsa-miR-664b-3p	PAR-CLIP	22012620
MIRT525991	hsa-miR-513c-5p	PAR-CLIP	22012620
MIRT525990	hsa-miR-514b-5p	PAR-CLIP	22012620
MIRT525996	hsa-miR-4719	PAR-CLIP	27292025
MIRT525999	hsa-miR-4760-3p	PAR-CLIP	27292025
MIRT525995	hsa-miR-513b-5p	PAR-CLIP	27292025
MIRT525991	hsa-miR-513c-5p	PAR-CLIP	27292025
MIRT525990	hsa-miR-514b-5p	PAR-CLIP	27292025
MIRT525993	hsa-miR-5696	PAR-CLIP	27292025
MIRT525994	hsa-miR-579-3p	PAR-CLIP	27292025
MIRT525997	hsa-miR-664a-3p	PAR-CLIP	27292025
MIRT525992	hsa-miR-664b-3p	PAR-CLIP	27292025
MIRT525998	hsa-miR-6858-3p	PAR-CLIP	27292025
MIRT525999	hsa-miR-4760-3p	PAR-CLIP	22012620
MIRT525998	hsa-miR-6858-3p	PAR-CLIP	22012620
MIRT525997	hsa-miR-664a-3p	PAR-CLIP	22012620
MIRT525996	hsa-miR-4719	PAR-CLIP	22012620
MIRT525995	hsa-miR-513b-5p	PAR-CLIP	22012620
MIRT525993	hsa-miR-5696	PAR-CLIP	22012620
MIRT525994	hsa-miR-579-3p	PAR-CLIP	22012620
MIRT525992	hsa-miR-664b-3p	PAR-CLIP	22012620
MIRT525991	hsa-miR-513c-5p	PAR-CLIP	22012620
MIRT525990	hsa-miR-514b-5p	PAR-CLIP	22012620
MIRT2035542	hsa-miR-320a	CLIP-seq
MIRT2035543	hsa-miR-320b	CLIP-seq
MIRT2035544	hsa-miR-320c	CLIP-seq
MIRT2035545	hsa-miR-320d	CLIP-seq
MIRT2035546	hsa-miR-4429	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0004842	Function	Ubiquitin-protein transferase activity	IMP	23452853
GO:0005515	Function	Protein binding	IPI	20864041, 23452853, 26365382, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IDA	23452853
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0030904	Component	Retromer complex	IDA	23452853
GO:0034314	Process	Arp2/3 complex-mediated actin nucleation	IDA	23452853
GO:0042147	Process	Retrograde transport, endosome to Golgi	IDA	23452853
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0048511	Process	Rhythmic process	IEA
GO:0051127	Process	Positive regulation of actin nucleation	IEA
GO:0070534	Process	Protein K63-linked ubiquitination	IMP	23452853

MIM	HGNC	e!Ensembl
605283	6814	ENSG00000254585

Q9UJ55

Protein name

MAGE-like protein 2 (Necdin-like protein 1) (Protein nM15)

Protein function

Probably enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, possibly through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Acts as a regulator o

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01454	MAGE	1027 → 1195	MAGE family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in placenta, fetal and adult brain. Not detected in heart and small intestine, very low levels in fibroblasts. Not expressed in brain of a Prader-Willi patient. {ECO:0000269|PubMed:10915770}.

Sequence

MSQLSKNLGDSSPPAEAPKPPVYSRPTVLMRAPPASSRAPPVPWDPPPIDLQASLAAWQA
PQPAWEAPQGQLPAPVVPMTQPPALGGPIVPAPPLGGPMGKPPTPGVLMVHPPPPGAPMA
QPPTPGVLMVHPSAPGAPMAHPPPPGTPMSHPPPPGTPMAHPPPPGTPMAHPPPPGTPMV
HPPPPGTPMAHPPPPGTPMAHPPPPGTPMAHPPPPGTPMAHPPPPGTPMAQPPAPGVLMA
QPLTPGVLMVQPAAPGAPMVQPPPAAMMTQPQPSGAPMAKPPGPGVLMIHPPGARAPMTQ
PPASGAPMAQPAAPPAQPMAPPAQPMASWAPQAQPLILQIQSQVIRAPPQVPQGPQAPPA
QLATPPGWQATSPGWQATQQGWQATPLTWQTTQVTWQAPAVTWQVPPPMRQGPPPIRPGP
PPIRPGPPPVRQAPPLIRQAPPVIRQAPPVIRQAPPVIRQAPAVIRQAPPVIRQAPPVIR
QAPPVIRQAPPLIRQAPPPIRPAPQVLATQPPLWQALPPPPPLRQAPQARLPAPQVQAAP
QVPTAPPATQVPAAPPAGPQVPQPVLPAPLSAPLSAPQAVHCPSIIWQAPKGQPPVPHEI
PTSMEFQEVQQTQALAWQAQKAPTHIWQPLPAQEAQRQAPPLVQLEQPFQGAPPSQKAVQ
IQLPPQQAQASGPQAEVPTLPLQPSWQAPPAVLQAQPGPPVAAANFPLGSAKSLMTPSGE
CRASSIDRRGSSKERRTSSKERRAPSKDRMIFAATFCAPKAVSAARAHLPAAWKNLPATP
ETFAPSSSVFPATSQFQPASLNAFKGPSAASETPKSLPYALQDPFACVEALPAVPWVPQP
NMNASKASQAVPTFLMATAAAPQATATTQEASKTSVEPPRRSGKATRKKKHLEAQEDSRG
HTLAFHDWQGPRPWENLNLSDWEVQSPIQVSGDWEHPNTPRGLSGWEGPSTSRILSGWEG
PSASWALSAWEGPSTSRALGLSESPGSSLPVVVSEVASVSPGSSATQDNSKVEAQPLSPL
DERANALVQFLLVKDQAKVPVQRSEMVKVILREYKDECLDIINRANNKLECAFGYQLKEI
DTKNHAYIIINKLGYHTGNLVASYLDRPKFGLLMVVLSLIFMKGNCVREDLIFNFLFKLG
LDVRETNGLFGNTKKLITEVFVRQKYLEYRRIPYTEPAEYEFLWGPRAFLETSKMLVLRF
LAKLHKKDPQSWPFHYLEALAECEWEDTDEDEPDTGDSAHGPTSRPPPR

Sequence length

1249

Interactions

View interactions

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 (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ambiguous genitalia	Pathogenic	rs770374710	RCV001257380	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Likely pathogenic; Pathogenic	rs2140719261, rs2503978535	RCV001843715 RCV003127423	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized hypotonia	Pathogenic	rs770374710	RCV001257380	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1890387347	RCV001260888	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MAGEL2-related disorder	Likely pathogenic; Pathogenic	rs797044883	RCV003407693	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple joint contractures	Pathogenic	rs770374710	RCV001257380	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs770374710	RCV002273971	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs770374710	RCV002277321	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prader-Willi syndrome	Pathogenic; Likely pathogenic	rs2140713056, rs2140714298, rs797044883, rs1890356742	RCV002250101 RCV002250102 RCV000762935 RCV001195825	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prader-Willi-like syndrome	Pathogenic	rs770374710	RCV003458348	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schaaf-Yang syndrome	Pathogenic; Likely pathogenic	rs899176705, rs2140711872, rs2140713406, rs2140717041, rs2140717180, rs2140718089, rs2140714112, rs2140719261, rs1267004913, rs768844200, rs2140715275, rs2503980170, rs770374710, rs797044883, rs869312694 View all (23 more)	RCV001376011 RCV001420183 RCV001420187 RCV001420188 RCV001420184 View all (34 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ventriculomegaly	Pathogenic	rs770374710	RCV001257380	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

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.
Autism spectrum disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTRACTURE OF MULTIPLE JOINTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FETAL AKINESIA DEFORMATION SEQUENCE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic developmental and epileptic encephalopathy	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRADER-WILLI SYNDROME DUE TO IMPRINTING MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRADER-WILLI SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRADER-WILLI SYNDROME DUE TO PATERNAL DELETION OF 15Q11Q13 TYPE 1	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRADER-WILLI SYNDROME DUE TO PATERNAL DELETION OF 15Q11Q13 TYPE 2	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (125)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acromicria	Acromicria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acromicric Dysplasia	Acromicric Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	23341784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	33076953	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	GENOMICS_ENGLAND_DG	24076603, 26365340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	26365340, 28281571, 29359444, 31504653, 31791363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	26365340, 28281571, 31504653, 31791363, 33820833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	24076603, 27195816, 34265304	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24076603, 27195816, 29496979		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	24076603, 24239951, 29359444		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	24076603		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	24076603	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	15649943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	33820833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32941982	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central hypothyroidism	Central hypothyroidism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	29359444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	27195816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	34128869	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27195816, 31504653	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorders of Sex Development	Disorders of sex development	Pubtator	34128869	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	31504653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	10915770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11891783, 17728320, 19066619, 19172181, 21248145, 24076603, 24661356, 25473036, 26365340, 8424017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27195816, 29496979		★★★★★ ★☆☆☆☆ 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
Growth Disorders	Growth disorder	Pubtator	34128869	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	29581464	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	Pubtator	31504653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	24076603, 26365340, 27195816, 34128869	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	29359444		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	33076953	Stimulate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	34128869	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAGEL2-related Prader-Willi-like syndrome	Prader-Willi-Like Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21073635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	20467835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	20467835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11891783, 17728320, 19066619, 19172181, 21248145, 24076603, 24661356, 25473036, 26365340, 8424017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	BEFREE	31791363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	39217334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28296079, 30343463, 31685878		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23341784, 28973533, 30238631, 31791363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31791363, 34128869	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	33076953	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	30238631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obstructive Hydrocephalus	Obstructive Hydrocephalus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz trigonocephaly syndrome	C syndrome	BEFREE	28281571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oromotor apraxia	Oromotor apraxia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paranoid Disorders	Paranoia	Pubtator	29343559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	16286533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	27195816, 29496979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	31504653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	10556298, 10802660, 10915770, 11782285, 15565282, 15649943, 16286533, 19066619, 24076603, 25926624, 26365340, 27436578, 28007570, 28296079, 28626083 View all (10 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prader-Willi Syndrome	Prader-Willi Syndrome	CTD_human_DG	24076603		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prader-Willi Syndrome	Prader-Willi Syndrome	GENOMICS_ENGLAND_DG	29588991		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prader-Willi Syndrome	Prader-Willi Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prader-Willi syndrome due to imprinting mutation	Prader-Willi Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	Prader-Willi Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	Prader-Willi Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	Prader-Willi Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prader-Willi-like syndrome	Prader-Willi-Like Syndrome	ORPHANET_DG	24076603		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prader-Willi-like syndrome	Prader-Willi-Like Syndrome	CLINVAR_DG	24076603, 26633545		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prader-Willi-like syndrome	Prader-Willi-Like Syndrome	GENOMICS_ENGLAND_DG	24076603, 26365340		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prader-Willi-like syndrome	Prader-Willi-Like Syndrome	BEFREE	26365340, 27195816, 28281571, 28296079, 28626083, 29496979, 30238631, 30302899, 30343463, 30347474, 31152388, 31397880, 31685878, 31791363		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Precocious Puberty	Precocious puberty	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Royer Syndrome	Royer Syndrome	CTD_human_DG	24076603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20467835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	29343559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep apnea	Pubtator	31504653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	31504653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MAGEL2 (MAGE family member L2)