MCM3AP (minichromosome maintenance complex component 3 associated protein)

Gene

• Entrez ID: 8888
• Gene name: Minichromosome maintenance complex component 3 associated protein
• Gene symbol: MCM3AP
• Synonyms (NCBI Gene): GANP, MAP80, PNRIID, SAC3
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs373674344	C>T	Pathogenic	Missense variant, coding sequence variant
rs483352869	C>T	Pathogenic	Missense variant, coding sequence variant
rs779248881	C>T	Pathogenic	Missense variant, coding sequence variant
rs1218260846	CGCAGCAGGG>-,CGCAGCAGGGCGCAGCAGGG	Pathogenic	Coding sequence variant, frameshift variant
rs1569072024	A>G	Pathogenic	Missense variant, coding sequence variant
rs1569073058	G>T	Pathogenic	Stop gained, coding sequence variant
rs1569074977	A>G	Pathogenic	Missense variant, coding sequence variant
rs1569074992	G>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052573	hsa-let-7a-5p	CLASH	23622248
MIRT050147	hsa-miR-26a-5p	CLASH	23622248
MIRT046814	hsa-miR-222-3p	CLASH	23622248
MIRT042228	hsa-miR-484	CLASH	23622248
MIRT039880	hsa-miR-615-3p	CLASH	23622248
MIRT039880	hsa-miR-615-3p	CLASH	23622248
MIRT052817	hsa-miR-3200-3p	CLASH	23622248
MIRT440266	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440266	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1137666	hsa-miR-148a	CLIP-seq
MIRT1137667	hsa-miR-148b	CLIP-seq
MIRT1137668	hsa-miR-152	CLIP-seq
MIRT1137669	hsa-miR-23a	CLIP-seq
MIRT1137670	hsa-miR-23b	CLIP-seq
MIRT1137671	hsa-miR-23c	CLIP-seq
MIRT1137672	hsa-miR-299-5p	CLIP-seq
MIRT1137673	hsa-miR-3200-5p	CLIP-seq
MIRT1137674	hsa-miR-34b	CLIP-seq
MIRT1137675	hsa-miR-4251	CLIP-seq
MIRT1137676	hsa-miR-4329	CLIP-seq
MIRT1137677	hsa-miR-4686	CLIP-seq
MIRT1137678	hsa-miR-4709-5p	CLIP-seq
MIRT1137679	hsa-miR-4711-5p	CLIP-seq
MIRT1137680	hsa-miR-580	CLIP-seq
MIRT1137666	hsa-miR-148a	CLIP-seq
MIRT1137667	hsa-miR-148b	CLIP-seq
MIRT1137668	hsa-miR-152	CLIP-seq
MIRT1137669	hsa-miR-23a	CLIP-seq
MIRT1137670	hsa-miR-23b	CLIP-seq
MIRT1137671	hsa-miR-23c	CLIP-seq
MIRT2039105	hsa-miR-3143	CLIP-seq
MIRT1137673	hsa-miR-3200-5p	CLIP-seq
MIRT1137674	hsa-miR-34b	CLIP-seq
MIRT1137675	hsa-miR-4251	CLIP-seq
MIRT1137676	hsa-miR-4329	CLIP-seq
MIRT1137678	hsa-miR-4709-5p	CLIP-seq
MIRT1137679	hsa-miR-4711-5p	CLIP-seq
MIRT2039106	hsa-miR-543	CLIP-seq
MIRT1137680	hsa-miR-580	CLIP-seq
MIRT1137666	hsa-miR-148a	CLIP-seq
MIRT1137667	hsa-miR-148b	CLIP-seq
MIRT1137668	hsa-miR-152	CLIP-seq
MIRT2039105	hsa-miR-3143	CLIP-seq
MIRT1137673	hsa-miR-3200-5p	CLIP-seq
MIRT1137675	hsa-miR-4251	CLIP-seq
MIRT1137676	hsa-miR-4329	CLIP-seq
MIRT1137678	hsa-miR-4709-5p	CLIP-seq
MIRT1137679	hsa-miR-4711-5p	CLIP-seq
MIRT2039106	hsa-miR-543	CLIP-seq
MIRT1137680	hsa-miR-580	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003682	Function	Chromatin binding	IDA	23652018
GO:0004402	Function	Histone acetyltransferase activity	IDA	23652018
GO:0004402	Function	Histone acetyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	23591820, 23652018
GO:0005634	Component	Nucleus	HDA	16780588
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9712829
GO:0005635	Component	Nuclear envelope	IEA
GO:0005643	Component	Nuclear pore	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	HDA	16780588
GO:0005829	Component	Cytosol	IDA
GO:0006406	Process	MRNA export from nucleus	IBA
GO:0010484	Function	Histone H3 acetyltransferase activity	IDA	23652018
GO:0015031	Process	Protein transport	IEA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IDA	23652018
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016973	Process	Poly(A)+ mRNA export from nucleus	IMP	23591820
GO:0031965	Component	Nuclear membrane	IDA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034728	Process	Nucleosome organization	IDA	23652018
GO:0042393	Function	Histone binding	IDA	23652018
GO:0044615	Component	Nuclear pore nuclear basket	IDA	23591820
GO:0051028	Process	MRNA transport	IEA
GO:0070390	Component	Transcription export complex 2	IBA
GO:0070390	Component	Transcription export complex 2	IDA	23591820

Other IDs

• MIM: 603294
• HGNC: 6946
• e!Ensembl: ENSG00000160294

Protein

• UniProt ID: O60318
• Protein name: Germinal-center associated nuclear protein (GANP) (EC 2.3.1.48) (80 kDa MCM3-associated protein) (MCM3 acetylating protein) (MCM3AP) (EC 2.3.1.-) (MCM3 acetyltransferase)
• Protein function: [Isoform GANP]: As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:20005110, PubMed:20384790, PubMed:22307388, PubMed:23591820). Through the acetylation of histones, affects t
• PDB: 4DHX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16768	NupH_GANP	2 → 291	Nucleoporin homology of Germinal-centre associated nuclear protein	Family
  PF03399	SAC3_GANP	635 → 929	SAC3/GANP family	Family
  PF16766	CID_GANP	1164 → 1234	Binding region of GANP to ENY2	Family
  PF16769	MCM3AP_GANP	1262 → 1976	MCM3AP domain of GANP	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed (PubMed:11024281). Up-regulated in germinal center B-cells in tonsils (at protein level) (PubMed:11024281). {ECO:0000269|PubMed:11024281}.
• Sequence:

  MNPTNPFSGQQPSAFSASSSNVGTLPSKPPFRFGQPSLFGQNSTLSGKSSGFSQVSSFPA
  SSGVSHSSSVQTLGFTQTSSVGPFSGLEHTSTFVATSGPSSSSVLGNTGFSFKSPTSVGA
  FPSTSAFGQEAGEIVNSGFGKTEFSFKPLENAVFKPILGAESEPEKTQSQIASGFFTFSH
  PISSAPGGLAPFSFPQVTSSSATTSNFTFSKPVSSNNSLSAFTPALSNQNVEEEKRGPKS
  IFGSSNNSFSSFPVSSAVLGEPFQASKAGVRQGCEEAVSQVEPLPSLMKGLKRKEDQDRS
  PRRHGHEPAEDSDPLSRGDHPPDKRPVRLNRPRGGTLFGRTIQDVFKSNKEVGRLGNKEA
  KKETGFVESAESDHMAIPGGNQSVLAPSRIPGVNKEEETESREKKEDSLRGTPARQSNRS
  ESTDSLGGLSPSEVTAIQCKNIPDYLNDRTILENHFGKIAKVQRIFTRRSKKLAVVHFFD
  HASAALARKKGKSLHKDMAIFWHRKKISPNKKPFSLKEKKPGDGEVSPSTEDAPFQHSPL
  GKAAGRTGASSLLNKSSPVKKPSLLKAHQFEGDSFDSASEGSEGLGPCVLSLSTLIGTVA
  ETSKEKYRLLDQRDRIMRQARVKRTDLDKARTFVGTCLDMCPEKERYMRETRSQLSVFEV
  VPGTDQVDHAAAVKEYSRSSADQEEPLPHELRPLPVLSRTMDYLVTQIMDQKEGSLRDWY
  DFVWNRTRGIRKDITQQHLCDPLTVSLIEKCTRFHIHCAHFMCEEPMSSFDAKINNENMT
  KCLQSLKEMYQDLRNKGVFCASEAEFQGYNVLLSLNKGDILREVQQFHPAVRNSSEVKFA
  VQAFAALNSNNFVRFFKLVQSASYLNACLLHCYFSQIRKDALRALNFAYTVSTQRSTIFP
  LDGVVRMLLFRDCEEATDFLTCHGLTVSDGCVELNRSAFLEPEGLSKTRKSVFITRKLTV
  SVGEIVNGGPLPPVPRHTPVCSFNSQNKYIGESLAAELPVSTQRPGSDTVGGGRGEECGV
  EPDAPLSSLPQSLPAPAPSPVPLPPVLALTPSVAPSLFQLSVQPEPPPPEPVPMYSDEDL
  AQVVDELIQEALQRDCEEVGSAGAAYAAAALGVSNAAMEDLLTAATTGILRHIAAEEVSK
  ERERREQERQRAEEERLKQERELVLSELSQGLAVELMERVMMEFVRETCSQELKNAVETD
  QRVRVARCCEDVCAHLVDLFLVEEIFQTAKETLQELQCFCKYLQRWREAVTARKKLRRQM
  RAFPAAPCCVDVSDRLRALAPSAECPIAEENLARGLLDLGHAGRLGISCTRLRRLRNKTA
  HQMKVQHFYQQLLSDVAWASLDLPSLVAEHLPGRQEHVFWKLVLVLPDVEEQSPESCGRI
  LANWLKVKFMGDEGSVDDTSSDAGGIQTLSLFNSLSSKGDQMISVNVCIKVAHGALSDGA
  IDAVETQKDLLGASGLMLLLPPKMKSEDMAEEDVYWLSALLQLKQLLQAKPFQPALPLVV
  LVPSPGGDAVEKEVEDGLMLQDLVSAKLISDYTVTEIPDTINDLQGSTKVLQAVQWLVSH
  CPHSLDLCCQTLIQYVEDGIGHEFSGRFFHDRRERRLGGLASQEPGAIIELFNSVLQFLA
  SVVSSEQLCDLSWPVTEFAEAGGSRLLPHLHWNAPEHLAWLKQAVLGFQLPQMDLPPLGA
  PWLPVCSMVVQYASQIPSSRQTQPVLQSQVENLLHRTYCRWKSKSPSPVHGAGPSVMEIP
  WDDLIALCINHKLRDWTPPRLPVTSEALSEDGQICVYFFKNDLKKYDVPLSWEQARLQTQ
  KELQLREGRLAIKPFHPSANNFPIPLLHMHRNWKRSTECAQEGRIPSTEDLMRGASAEEL
  LAQCLSSSLLLEKEENKRFEDQLQQWLSEDSGAFTDLTSLPLYLPQTLVSLSHTIEPVMK
  TSVTTSPQSDMMREQLQLSEATGTCLGERLKHLERLIRSSREEEVASELHLSALLDMVDI
  

• Sequence length: 1980

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
MCM3AP-related disorder	Pathogenic; Likely pathogenic	rs756431692, rs2517345434	RCV003893010 RCV003419131	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	Pathogenic; Likely pathogenic	rs756431692, rs2123851661, rs2517439367, rs755050703, rs2517438518, rs2517442774, rs1569086477, rs1569073058, rs1569074992, rs373674344, rs1569072024, rs1569074977, rs483352869	RCV002251773 RCV002248364 RCV002470422 RCV003148234 RCV003332067 RCV003459154 RCV000681516 RCV000681517 RCV000681518 RCV000681519 RCV000681520 RCV000681521 RCV000077789	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism spectrum disorder	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital fibrosis of extraocular muscles	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PSYCHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT RESISTANT DEPRESSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	15994971		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	37266599	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	31894294	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24070605, 26749495, 30810967		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	34256796	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31761783, 31836002, 31985002	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31985002	Inhibit	★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	18429927, 28633435		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J	Charcot-Marie-Tooth Disease	BEFREE	20630877, 31313076		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	19578742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosomal Instability	Chromosomal instability	Pubtator	19686285	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34344319, 36172487	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	19578742		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	16780588		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	16780588	Associate	★☆☆☆☆ Found in Text Mining only
Familial Periodic Paralysis	Periodic Paralysis	BEFREE	31241196		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19686285	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31985002	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19686285	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	15994971		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25681430, 28153618		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	26615982		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28633435		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28633435, 32202298	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	32945445	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31237446		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32945454	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	15994971		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	19686285		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24070605, 26749495, 30810967		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19686285		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26749495		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	16431081		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	28633435		★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	28633435		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	26615982		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	26615982		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26749495		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	28633435		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	31836002	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	33942704	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32945454, 34168151	Associate	★☆☆☆☆ Found in Text Mining only
periodic paralysis (finding)	Periodic Paralysis	BEFREE	31241196		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	GWASCAT_DG	30218097		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontosis	Periodontosis	GWASCAT_DG	30218097		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	32202298	Associate	★☆☆☆☆ Found in Text Mining only
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	Peripheral neuropathy, with or without impaired intellectual development	UNIPROT_DG	24123876, 28633435, 28969388, 29982295		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	Peripheral neuropathy, with or without impaired intellectual development	GENOMICS_ENGLAND_DG	28633435, 29982295		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	Peripheral neuropathy, with or without impaired intellectual development	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	37132453	Associate	★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33596783	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	32940099	Inhibit	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	34271873	Associate	★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	30810967		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32196596	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GWASDB_DG	23666240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GWASCAT_DG	28604728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular Neoplasms	GWASCAT_DG	23666240		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35929906	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24070605		★☆☆☆☆ Found in Text Mining only