VRK1 (VRK serine/threonine kinase 1)

Gene

• Entrez ID: 7443
• Gene name: VRK serine/threonine kinase 1
• Gene symbol: VRK1
• Synonyms (NCBI Gene): HMNR10, PCH1, PCH1A
• Chromosome: 14
• Chromosome location: 14q32.2
• Summary: This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal live

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61736727	T>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs137853063	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs147853760	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant, coding sequence variant, synonymous variant, non coding transcript variant
rs371295780	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs387906830	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs771364038	G>A,T	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs772146380	AAAA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs772263867	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs772731615	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs773138218	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs779282547	AAAC>-	Pathogenic	Frameshift variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant
rs780789145	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs869312959	G>A	Pathogenic	Splice donor variant, 3 prime UTR variant
rs1172497555	G>T	Uncertain-significance, pathogenic	Intron variant, missense variant, coding sequence variant
rs1223645705	A>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, non coding transcript variant, stop gained
rs1566696845	TCTTGGTA>-	Likely-pathogenic	Splice donor variant, non coding transcript variant, coding sequence variant, intron variant
rs1566713184	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, 3 prime UTR variant
rs1595676477	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1595676517	G>T	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030361	hsa-miR-24-3p	Microarray	19748357
MIRT497971	hsa-miR-3662	PAR-CLIP	22291592
MIRT497970	hsa-miR-4694-3p	PAR-CLIP	22291592
MIRT497969	hsa-miR-4693-3p	PAR-CLIP	22291592
MIRT497971	hsa-miR-3662	PAR-CLIP	22291592
MIRT497970	hsa-miR-4694-3p	PAR-CLIP	22291592
MIRT497969	hsa-miR-4693-3p	PAR-CLIP	22291592
MIRT1487485	hsa-miR-1224-5p	CLIP-seq
MIRT1487486	hsa-miR-33a	CLIP-seq
MIRT1487487	hsa-miR-33b	CLIP-seq
MIRT1487488	hsa-miR-3609	CLIP-seq
MIRT1487489	hsa-miR-3682-5p	CLIP-seq
MIRT1487490	hsa-miR-3921	CLIP-seq
MIRT1487491	hsa-miR-4251	CLIP-seq
MIRT1487492	hsa-miR-4329	CLIP-seq
MIRT1487493	hsa-miR-4432	CLIP-seq
MIRT1487494	hsa-miR-4653-5p	CLIP-seq
MIRT1487495	hsa-miR-4696	CLIP-seq
MIRT1487496	hsa-miR-4714-5p	CLIP-seq
MIRT1487497	hsa-miR-4751	CLIP-seq
MIRT1487498	hsa-miR-496	CLIP-seq
MIRT1487499	hsa-miR-513a-5p	CLIP-seq
MIRT1487500	hsa-miR-539	CLIP-seq
MIRT1487501	hsa-miR-548ah	CLIP-seq
MIRT1487502	hsa-miR-548n	CLIP-seq
MIRT1487503	hsa-miR-548t	CLIP-seq
MIRT1487490	hsa-miR-3921	CLIP-seq
MIRT1487491	hsa-miR-4251	CLIP-seq
MIRT1487492	hsa-miR-4329	CLIP-seq
MIRT1487493	hsa-miR-4432	CLIP-seq
MIRT1487494	hsa-miR-4653-5p	CLIP-seq
MIRT1487495	hsa-miR-4696	CLIP-seq
MIRT1487496	hsa-miR-4714-5p	CLIP-seq
MIRT1487499	hsa-miR-513a-5p	CLIP-seq
MIRT1487500	hsa-miR-539	CLIP-seq
MIRT2660779	hsa-miR-3121-3p	CLIP-seq
MIRT2660780	hsa-miR-3671	CLIP-seq
MIRT2660781	hsa-miR-4428	CLIP-seq
MIRT1487499	hsa-miR-513a-5p	CLIP-seq
MIRT2660782	hsa-miR-607	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000785	Component	Chromatin	IDA	35390161
GO:0004672	Function	Protein kinase activity	IDA	22194607
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	21543316, 33076429
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	9344656
GO:0005515	Function	Protein binding	IPI	15105425, 15378002, 15542844, 18617507, 19103756, 21920476, 22194607, 22621922, 24492002, 25609649, 25923214, 26869104, 27334688, 29340707, 33076429, 37179361
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	22194607
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005795	Component	Golgi stack	IDA	19103756
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006338	Process	Chromatin remodeling	IMP	37179361
GO:0006468	Process	Protein phosphorylation	TAS	9344656
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IDA	33076429
GO:0007077	Process	Mitotic nuclear membrane disassembly	TAS
GO:0007165	Process	Signal transduction	IBA
GO:0015030	Component	Cajal body	IDA	21920476
GO:0015030	Component	Cajal body	IEA
GO:0016301	Function	Kinase activity	IDA	21543316
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019901	Function	Protein kinase binding	IDA	22572157
GO:0030576	Process	Cajal body organization	IMP	31090908
GO:0031175	Process	Neuron projection development	IMP	31090908
GO:0031492	Function	Nucleosomal DNA binding	IDA	35390161
GO:0035175	Function	Histone H3S10 kinase activity	IDA	22194607
GO:0042393	Function	Histone binding	IPI	22194607, 35390161
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	33076429
GO:0046777	Process	Protein autophosphorylation	IDA	21543316
GO:0051301	Process	Cell division	IEA
GO:0072354	Function	Histone H3T3 kinase activity	IDA	22194607, 31527692
GO:0090166	Process	Golgi disassembly	IDA	19103756
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0120187	Process	Positive regulation of protein localization to chromatin	IDA	33076429
GO:0141003	Function	Histone H2AX kinase activity	IDA	31527692
GO:2001222	Process	Regulation of neuron migration	IEA
GO:2001222	Process	Regulation of neuron migration	ISS

Other IDs

• MIM: 602168
• HGNC: 12718
• e!Ensembl: ENSG00000100749

Protein

• UniProt ID: Q99986
• Protein name: Serine/threonine-protein kinase VRK1 (EC 2.7.11.1) (Vaccinia-related kinase 1)
• Protein function: Serine/threonine kinase involved in the regulation of key cellular processes including the cell cycle, nuclear condensation, transcription regulation, and DNA damage response (PubMed:14645249, PubMed:18617507, PubMed:19103756, PubMed:33076429).
• PDB: 2KTY, 2KUL, 2LAV, 2RSV, 3OP5, 5UKF, 5UVF, 6AC9, 6BP0, 6BRU, 6BTW, 6BU6, 6CFM, 6CMM, 6CNX, 6CQH, 6CSW, 6DD4, 6NPN, 6VXU, 6VZH, 7M10, 7TAN, 8F8Y, 8V42
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	37 → 324	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Highly expressed in fetal liver, testis and thymus. {ECO:0000269|PubMed:9344656}.
• Sequence:

  MPRVKAAQAGRQSSAKRHLAEQFAVGEIITDMAKKEWKVGLPIGQGGFGCIYLADMNSSE
  SVGSDAPCVVKVEPSDNGPLFTELKFYQRAAKPEQIQKWIRTRKLKYLGVPKYWGSGLHD
  KNGKSYRFMIMDRFGSDLQKIYEANAKRFSRKTVLQLSLRILDILEYIHEHEYVHGDIKA
  SNLLLNYKNPDQVYLVDYGLAYRYCPEGVHKEYKEDPKRCHDGTIEFTSIDAHNGVAPSR
  RGDLEILGYCMIQWLTGHLPWEDNLKDPKYVRDSKIRYRENIASLMDKCFPEKNKPGEIA
  KYMETVKLLDYTEKPLYENLRDILLQGLKAIGSKDDGKLDLSVVENGGLKAKTITKKRKK
  EIEESKEPGVEDTEWSNTQTEEAIQTRSRTRKRVQK

• Sequence length: 396

Pathways

Reactome:

Nuclear Envelope Breakdown
Initiation of Nuclear Envelope (NE) Reformation

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
Abnormality of the musculature	Pathogenic	rs137853063	RCV001836703	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital pontocerebellar hypoplasia type 1	Pathogenic	rs137853063	RCV000690009	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal spinal muscular atrophy	Likely pathogenic	rs1887280587	RCV002227297	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile amyotrophic lateral sclerosis	Likely pathogenic; Pathogenic	rs772731615	RCV001095537	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, autosomal recessive 10	Likely pathogenic; Pathogenic	rs2139845854, rs184887106, rs1566721633, rs2504252308, rs371295780, rs772731615, rs137853063, rs779282547, rs1420939606, rs762979613, rs774877872	RCV005008401 RCV004796691 RCV005010991 RCV005002878 RCV005008123 RCV005008124 RCV003387437 RCV005010506 RCV003387440 RCV005012487 RCV005235511	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar hypoplasia type 1A	Likely pathogenic; Pathogenic	rs2139804166, rs774518440, rs2139845849, rs2139748841, rs2139779014, rs2139795550, rs2139845854, rs2139796429, rs1200170208, rs2139845924, rs2139814734, rs1889019962, rs184887106, rs2139759363, rs2139801958, rs2139749072, rs2139814687, rs2139748811, rs2139804073, rs1887100980, rs2504191241, rs1566721633, rs2504194332, rs1298866730, rs2504252308, rs2504210475, rs371295780, rs772731615, rs2504251871, rs2504185145, rs2504209855, rs2504252353, rs761254060, rs2504130934, rs137853063, rs1257821102, rs2504252312, rs2504169446, rs2504185348, rs2504197072, rs868010710, rs2504164846, rs2504141901, rs2504196928, rs2504194635, rs2504169004, rs2504185136, rs2504184408, rs1888018806, rs943810223, rs2504194954, rs779282547, rs1420939606, rs772263867, rs1566713184, rs772146380, rs1223645705, rs752086581, rs1887100431, rs762979613, rs774877872, rs1482696609, rs892468166, rs1428656431	RCV001645020 RCV001836384 RCV002550963 RCV002550273 RCV003104064 RCV002551579 RCV002545462 RCV002554314 RCV002561409 RCV002571353 RCV002557619 RCV002568516 RCV002563635 RCV002563632 RCV002564383 RCV002579619 RCV002555342 RCV002564403 RCV002553454 RCV003065770 RCV003092789 RCV003073533 RCV002636991 RCV003117102 RCV002730532 RCV002811240 RCV000191143 RCV000191144 RCV002863646 RCV002899986 RCV002882026 RCV002953112 RCV003016872 RCV003034027 RCV003043515 RCV000007926 RCV003507492 RCV003778350 RCV003507556 RCV003507656 RCV003508368 RCV003508555 RCV003508952 RCV003506816 RCV003507082 RCV003620906 RCV003620836 RCV003621072 RCV003621418 RCV003836653 RCV003831271 RCV003867784 RCV005010506 RCV003103815 RCV002533248 RCV000758202 RCV002537997 RCV001809826 RCV002553233 RCV003103923 RCV002553209 RCV002553287 RCV002561763 RCV002561903 RCV002570361 RCV001290422	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar hypoplasia type 1B	Likely pathogenic	rs1566696845	RCV000762795	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontoneocerebellar hypoplasia	Pathogenic	rs1174255706, rs2504252312	RCV003388412 RCV005429448	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal muscular atrophy	Pathogenic	rs1889019962	RCV001095536	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal hereditary motor neuropathy associated with upper motor neuron signs	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMG: neuropathic changes	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated microphthalmia 2	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly-complex motor and sensory axonal neuropathy syndrome	Conflicting classifications of pathogenicity	ClinVar GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEUROBLASTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronopathy, distal hereditary motor, autosomal recessive	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA TYPE 1	—	CTD, GWAS catalog, Orphanet CTD, GWAS catalog, Orphanet CTD, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VRK1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	17689819		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	26583493, 30847374, 31527692, 31560180, 38017281, 38554151	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30050127, 30847374, 31527692		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior Horn Cell Disease	Anterior Horn Cell Disease	BEFREE	12548734		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24731990, 29221160, 30180179		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21829721, 24731990, 30180179, 31970831	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27456229, 34071140	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17689819		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28927264, 38157278	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17689819		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	21273289, 30690203		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	11008257, 12548734, 19646678, 21273289, 22452838, 27281532, 31527692, 31560180		★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	24126608		★☆☆☆☆ Found in Text Mining only
Depression Postpartum	Major depressive disorder	Pubtator	23284067	Associate	★☆☆☆☆ Found in Text Mining only
Distal Hereditary Motor Neuropathy Type II	Distal hereditary motor neuropathy	Pubtator	30847374, 38554151	Associate	★☆☆☆☆ Found in Text Mining only
Distal Spinal Muscular Atrophy	Distal Spinal Muscular Atrophy	BEFREE	27281532, 30617279		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	38157278	Stimulate	★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	31527692	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28298069		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28298069		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26956052		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26956052, 36069976	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26956052		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29103766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	36040810	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	23284067		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	31560180	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	35410639	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	26375549		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23591868, 34071140	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	31494269	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30180179	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24731990, 29221160, 30180179		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28298069		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28927264		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29029460, 30180179, 30461091, 31101118		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	24126608, 31527692, 31560180		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	24126608, 31527692, 31560180	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly-complex motor and sensory axonal neuropathy syndrome	Microcephaly-Complex Motor And Sensory Axonal Neuropathy Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Motor Neuron Disease	Motor neuron disease	Pubtator	26583493, 27281532, 31178479, 31527692, 31560180, 34990802, 38554151	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	27281532, 31090908, 31560180		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36052378	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	25356970		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	27319807		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27319807	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	27281532, 30847374, 31527692, 31560180, 32365420, 38554151	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17689819, 24731990, 26375549, 26956052, 27319807, 30180179		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31531195		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36040810	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropathy	Neuropathy	BEFREE	31837156		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	24731990		★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	BEFREE	12548734		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31810390		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31810390	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	30690203, 31837156		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	24126608	Associate	★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	22452838, 27281532, 31527692, 31560180, 38017281	Associate	★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 1	Pontoneocerebellar hypoplasia	BEFREE	19646678, 22544365		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar Hypoplasia Type 1	Pontoneocerebellar hypoplasia	ORPHANET_DG	19646678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar Hypoplasia Type 1	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	19646678, 21937992, 24126608, 26583493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar Hypoplasia Type 1	Pontocerebellar hypoplasia	Pubtator	19646678, 23284067	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar hypoplasia type 1	Pontoneocerebellar hypoplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar Hypoplasia Type 1	Pontoneocerebellar hypoplasia	CLINVAR_DG	24126608, 26633545		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar Hypoplasia Type 1	Pontoneocerebellar hypoplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B	Pontoneocerebellar hypoplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	Erythermalgia	BEFREE	30690203		★☆☆☆☆ Found in Text Mining only
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	11008257, 12548734, 19646678, 21273289, 22452838, 27281532, 31527692, 31560180		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	30690203		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	16547155		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22234486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	22234486	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	19646678, 31560180	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	23284067, 25609612, 27281532, 30050127, 31527692, 31560180		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal Muscular Atrophy	Spinal Muscular Atrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal muscular atrophy Jerash type	Spinal muscular atrophy	Pubtator	32365420	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16547155		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28298069, 29029460		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	16547155	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	35410639	Stimulate	★☆☆☆☆ Found in Text Mining only