MORC2 (MORC family CW-type zinc finger 2)

Gene

• Entrez ID: 22880
• Gene name: MORC family CW-type zinc finger 2
• Gene symbol: MORC2
• Synonyms (NCBI Gene): CMT2Z, DIGFAN, ZCW3, ZCWCC1
• Chromosome: 22
• Chromosome location: 22q12.2
• Summary: This gene encodes a member of the Microrchidia (MORC) protein superfamily. The encoded protein is known to regulate the condensation of heterochromatin in response to DNA damage and play a role in repressing transcription. The protein has been found to re

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs749060708	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs864309503	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs864309504	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs886037934	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1064795559	G>A	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064796495	C>A,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1163530787	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555938796	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs1602485958	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1602499631	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1602499659	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1602510200	C>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs1602510214	G>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045739	hsa-miR-125a-5p	CLASH	23622248
MIRT039847	hsa-miR-615-3p	CLASH	23622248
MIRT497228	hsa-miR-3675-5p	PAR-CLIP	22291592
MIRT497227	hsa-miR-4742-5p	PAR-CLIP	22291592
MIRT497226	hsa-miR-4269	PAR-CLIP	22291592
MIRT497225	hsa-miR-6715b-5p	PAR-CLIP	22291592
MIRT497224	hsa-miR-4514	PAR-CLIP	22291592
MIRT497223	hsa-miR-4692	PAR-CLIP	22291592
MIRT497222	hsa-miR-877-3p	PAR-CLIP	22291592
MIRT497221	hsa-miR-6515-3p	PAR-CLIP	22291592
MIRT440220	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440220	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT497228	hsa-miR-3675-5p	PAR-CLIP	22291592
MIRT497227	hsa-miR-4742-5p	PAR-CLIP	22291592
MIRT497226	hsa-miR-4269	PAR-CLIP	22291592
MIRT497225	hsa-miR-6715b-5p	PAR-CLIP	22291592
MIRT497224	hsa-miR-4514	PAR-CLIP	22291592
MIRT497223	hsa-miR-4692	PAR-CLIP	22291592
MIRT497222	hsa-miR-877-3p	PAR-CLIP	22291592
MIRT497221	hsa-miR-6515-3p	PAR-CLIP	22291592
MIRT2044497	hsa-miR-1184	CLIP-seq
MIRT2044498	hsa-miR-1238	CLIP-seq
MIRT2044499	hsa-miR-1301	CLIP-seq
MIRT2044500	hsa-miR-296-3p	CLIP-seq
MIRT2044501	hsa-miR-3184	CLIP-seq
MIRT2044502	hsa-miR-3665	CLIP-seq
MIRT2044503	hsa-miR-423-5p	CLIP-seq
MIRT2044504	hsa-miR-4660	CLIP-seq
MIRT2044505	hsa-miR-4688	CLIP-seq
MIRT2044506	hsa-miR-4691-5p	CLIP-seq
MIRT2044507	hsa-miR-4719	CLIP-seq
MIRT2044508	hsa-miR-4736	CLIP-seq
MIRT2044509	hsa-miR-486-3p	CLIP-seq
MIRT2044510	hsa-miR-5047	CLIP-seq
MIRT2044511	hsa-miR-548v	CLIP-seq
MIRT2044501	hsa-miR-3184	CLIP-seq
MIRT2044502	hsa-miR-3665	CLIP-seq
MIRT2044503	hsa-miR-423-5p	CLIP-seq
MIRT2044505	hsa-miR-4688	CLIP-seq
MIRT2044508	hsa-miR-4736	CLIP-seq
MIRT2044509	hsa-miR-486-3p	CLIP-seq
MIRT2273702	hsa-miR-541	CLIP-seq
MIRT2273703	hsa-miR-654-5p	CLIP-seq
MIRT2044500	hsa-miR-296-3p	CLIP-seq
MIRT2044501	hsa-miR-3184	CLIP-seq
MIRT2044502	hsa-miR-3665	CLIP-seq
MIRT2044503	hsa-miR-423-5p	CLIP-seq
MIRT2044505	hsa-miR-4688	CLIP-seq
MIRT2044508	hsa-miR-4736	CLIP-seq
MIRT2044509	hsa-miR-486-3p	CLIP-seq
MIRT2273702	hsa-miR-541	CLIP-seq
MIRT2273703	hsa-miR-654-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	29440755
GO:0000792	Component	Heterochromatin	IDA	28581500
GO:0003682	Function	Chromatin binding	IDA	23260667, 29211708
GO:0005515	Function	Protein binding	IPI	28514442, 28581500, 33961781
GO:0005524	Function	ATP binding	IDA	29440755
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23260667
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	23260667
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0006338	Process	Chromatin remodeling	IDA	23260667
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006974	Process	DNA damage response	IDA	23260667
GO:0008270	Function	Zinc ion binding	IDA	29440755
GO:0008270	Function	Zinc ion binding	IEA
GO:0016363	Component	Nuclear matrix	IDA	23260667
GO:0016363	Component	Nuclear matrix	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	23260667, 29440755
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0042802	Function	Identical protein binding	IPI	29440755
GO:0042803	Function	Protein homodimerization activity	IDA	29440755
GO:0046872	Function	Metal ion binding	IEA
GO:0140719	Process	Constitutive heterochromatin formation	IDA	28581500
GO:0141005	Process	Transposable element silencing by heterochromatin formation	IDA	29211708

Other IDs

• MIM: 616661
• HGNC: 23573
• e!Ensembl: ENSG00000133422

Protein

• UniProt ID: Q9Y6X9
• Protein name: ATPase MORC2 (EC 3.6.1.-) (MORC family CW-type zinc finger protein 2) (Zinc finger CW-type coiled-coil domain protein 1)
• Protein function: Essential for epigenetic silencing by the HUSH (human silencing hub) complex. Recruited by HUSH to target site in heterochromatin, the ATPase activity and homodimerization are critical for HUSH-mediated silencing (PubMed:28581500, PubMed:2944075
• PDB: 5OF9, 5OFA, 5OFB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13589	HATPase_c_3	26 → 169		Domain
  PF17942	Morc6_S5	323 → 451	Morc6 ribosomal protein S5 domain 2-like	Family
  PF07496	zf-CW	495 → 542	CW-type Zinc Finger	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in smooth muscle, pancreas and testis.
• Sequence:

  MAFTNYSSLNRAQLTFEYLHTNSTTHEFLFGALAELVDNARDADATRIDIYAERREDLRG
  GFMLCFLDDGAGMDPSDAASVIQFGKSAKRTPESTQIGQYGNGLKSGSMRIGKDFILFTK
  KEDTMTCLFLSRTFHEEEGIDEVIVPLPTWNARTREPVTDNVEKFAIETELIYKYSPFRT
  EEEVMTQFMKIPGDSGTLVIIFNLKLMDNGEPELDIISNPRDIQMAETSPEGTKPERRSF
  RAYAAVLYIDPRMRIFIHGHKVQTKRLSCCLYKPRMYKYTSSRFKTRAEQEVKKAEHVAR
  IAEEKAREAESKARTLEVRLGGDLTRDSRVMLRQVQNRAITLRREADVKKRIKEAKQRAL
  KEPKELNFVFGVNIEHRDLDGMFIYNCSRLIKMYEKVGPQLEGGMACGGVVGVVDVPYLV
  LEPTHNKQDFADAKEYRHLLRAMGEHLAQYWKDIAIAQRGIIKFWDEFGYLSANWNQPPS
  SELRYKRRRAMEIPTTIQCDLCLKWRTLPFQLSSVEKDYPDTWVCSMNPDPEQDRCEASE
  QKQKVPLGTFRKDMKTQEEKQKQLTEKIRQQQEKLEALQKTTPIRSQADLKKLPLEVTTR
  PSTEEPVRRPQRPRSPPLPAVIRNAPSRPPSLPTPRPASQPRKAPVISSTPKLPALAARE
  EASTSRLLQPPEAPRKPANTLVKTASRPAPLVQQLSPSLLPNSKSPREVPSPKVIKTPVV
  KKTESPIKLSPATPSRKRSVAVSDEEEVEEEAERRKERCKRGRFVVKEEKKDSNELSDSA
  GEEDSADLKRAQKDKGLHVEVRVNREWYTGRVTAVEVGKHVVRWKVKFDYVPTDTTPRDR
  WVEKGSEDVRLMKPPSPEHQSLDTQQEGGEEEVGPVAQQAIAVAEPSTSECLRIEPDTTA
  LSTNHETIDLLVQILRNCLRYFLPPSFPISKKQLSAMNSDELISFPLKEYFKQYEVGLQN
  LCNSYQSRADSRAKASEESLRTSERKLRETEEKLQKLRTNIVALLQKVQEDIDINTDDEL
  DAYIEDLITKGD

• Sequence length: 1032

Pathways

Reactome:

Fatty acyl-CoA biosynthesis

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
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs864309503, rs864309504, rs886037934, rs1602485728	RCV000857122 RCV000857126 RCV000857125 RCV000857119	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease axonal type 2Z	Likely pathogenic; Pathogenic	rs2147256596, rs1342054043, rs2517588823, rs864309503, rs864309504, rs886037934, rs2517589889, rs1064796495, rs1555938796, rs1555938741, rs1602496057, rs1602485728, rs1602499659, rs1602510200, rs1602510214, rs2040679845	RCV001932939 RCV002465008 RCV003050579 RCV000202547 RCV000202460 RCV000240855 RCV003593344 RCV003755402 RCV001856876 RCV000689169 RCV000817470 RCV000816128 RCV000820512 RCV001215495 RCV000857312 RCV002249596 RCV003333113 RCV001871631	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	Likely pathogenic; Pathogenic	rs773676225, rs1602496057, rs2147256596, rs2147284796, rs2517621673, rs1342054043, rs864309503, rs864309504, rs2517601712, rs1602510200, rs1602510214, rs2040679845	RCV001527637 RCV001706927 RCV005054387 RCV002273097 RCV002464984 RCV002465008 RCV003387804 RCV005055008 RCV004698894 RCV001281381 RCV001281380 RCV001281379	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal spinal muscular atrophy	Likely pathogenic; Pathogenic	rs864309503	RCV000857123	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs864309504	RCV001255406	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MORC2-related disorder	Likely pathogenic; Pathogenic	rs1555938796, rs1602510200	RCV003983095 RCV003432987	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MORC2-related neurodevelopmental disorders	Pathogenic	rs1602510200	RCV001796981	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs1602510200	RCV002272381	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 4	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, type I	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	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	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORC2-related developmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronopathy, distal hereditary motor, autosomal dominant	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tip-toe gait	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autosomal dominant Charcot-Marie-Tooth disease type 2Z	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	29228664, 29555576		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32112098, 33626175, 34974534, 35522895, 36793866	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30644437, 31180332, 36234785, 37737260	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30504718		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37737260	Associate	★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	26497905, 26659848, 28581500, 28771897, 29440755, 30624633		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CTD_human_DG	28581500		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z	Charcot-Marie-Tooth Disease	ORPHANET_DG	26497905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z	Charcot-Marie-Tooth Disease	CLINVAR_DG	26497905, 26659848, 26912637, 27105897, 27105987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z	Charcot-Marie-Tooth Disease	UNIPROT_DG	26497905, 26659848, 28581500, 29440755		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	26659848, 27794525		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	CTD_human_DG	28581500		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ib	Charcot-Marie-Tooth disease	CTD_human_DG	28581500		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31180332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	31180332	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	36791574	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30407715		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30407715		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25117815, 32749190	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36234785	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31180332		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32693025, 34189813, 34974534, 36791574	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	35904125	Associate	★☆☆☆☆ Found in Text Mining only
Exophoria	Exophoria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glabellar hemangioma	Glabellar hemangioma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34913078	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	36076300	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	32693025, 35904125, 36791574	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathy Type I	Hereditary motor and sensory neuropathy	CTD_human_DG	28581500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	26659848		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	CTD_human_DG	28581500		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	26659848	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	34189813	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32693025	Associate	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	32693025, 36675121	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29555977		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31180332	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	39312367	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29228664, 29555576		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29620211		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30504718		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30644437		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29555576, 29555977, 30093560, 30504718		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30407715		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	32693025, 36791574	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	26497905, 26659848, 26912637, 27105897, 27329773, 27794525, 28334961, 28402445, 28581500, 28771897		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	32693025, 35904125, 36791574	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29555576, 30504718		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	32693025, 33844363	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30093560		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	29555977		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	35904125	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	26497905, 29440755, 30624633		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29555576		★☆☆☆☆ Found in Text Mining only
Oral aversion	Oral aversion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	35904125	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	32693025	Associate	★☆☆☆☆ Found in Text Mining only
Roussy-Levy Syndrome (disorder)	Roussy-Levy Syndrome	CTD_human_DG	28581500		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	26659848	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	29440755		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30644437		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26098774, 29339121, 30644437	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	22140552, 37352040	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30093560		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	39312367	Associate	★☆☆☆☆ Found in Text Mining only