LIG4 (DNA ligase 4)

Gene

• Entrez ID: 3981
• Gene name: DNA ligase 4
• Gene symbol: LIG4
• Synonyms (NCBI Gene): LIG4S
• Chromosome: 13
• Chromosome location: 13q33.3
• Summary: The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonh

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs72660870	G>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs104894418	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs104894419	G>A	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs104894420	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894421	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs142957638	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201176444	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs375554612	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587776663	GTT>-	Pathogenic	Inframe deletion, coding sequence variant
rs748385144	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs751070095	ATTTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs751409106	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs759838407	AG>-,AGAG	Pathogenic	Frameshift variant, coding sequence variant
rs770128720	ATCTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs772226399	CTTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs780504243	C>A	Pathogenic	Coding sequence variant, missense variant
rs780879476	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886037777	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1060499662	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691430	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1246940345	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555305016	CTCTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566366148	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1594458526	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594462950	T>C	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021742	hsa-miR-132-3p	Microarray	17612493
MIRT028768	hsa-miR-26b-5p	Microarray	19088304
MIRT051082	hsa-miR-16-5p	CLASH	23622248
MIRT2030346	hsa-miR-1279	CLIP-seq
MIRT2561080	hsa-miR-1	CLIP-seq
MIRT2561081	hsa-miR-1243	CLIP-seq
MIRT2561082	hsa-miR-1257	CLIP-seq
MIRT2561083	hsa-miR-129-5p	CLIP-seq
MIRT2561084	hsa-miR-206	CLIP-seq
MIRT2561085	hsa-miR-2113	CLIP-seq
MIRT2561086	hsa-miR-3163	CLIP-seq
MIRT2561087	hsa-miR-3611	CLIP-seq
MIRT2561088	hsa-miR-3654	CLIP-seq
MIRT2561089	hsa-miR-3673	CLIP-seq
MIRT2561090	hsa-miR-4272	CLIP-seq
MIRT2561091	hsa-miR-4496	CLIP-seq
MIRT2561092	hsa-miR-4668-3p	CLIP-seq
MIRT2561093	hsa-miR-577	CLIP-seq
MIRT2561094	hsa-miR-613	CLIP-seq
MIRT2561095	hsa-miR-758	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000012	Process	Single strand break repair	IDA	8798671
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	29980672
GO:0000781	Component	Chromosome, telomeric region	IC	23275564
GO:0000793	Component	Condensed chromosome	IDA	12589063
GO:0001701	Process	In utero embryonic development	IEA
GO:0001701	Process	In utero embryonic development	ISS
GO:0002328	Process	Pro-B cell differentiation	IEA
GO:0002328	Process	Pro-B cell differentiation	ISS
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	8798671, 29980672
GO:0003677	Function	DNA binding	IEA
GO:0003909	Function	DNA ligase activity	IDA	12517771, 17290226, 19589734
GO:0003909	Function	DNA ligase activity	IEA
GO:0003909	Function	DNA ligase activity	TAS
GO:0003910	Function	DNA ligase (ATP) activity	IBA
GO:0003910	Function	DNA ligase (ATP) activity	IDA	8798671, 22192310, 23523427, 29980672
GO:0003910	Function	DNA ligase (ATP) activity	IEA
GO:0003910	Function	DNA ligase (ATP) activity	IMP	29980672
GO:0005515	Function	Protein binding	IPI	9242410, 9259561, 9809069, 11702069, 12589063, 16439205, 17290226, 17389648, 17396150, 19589734, 21070942, 22529269, 22658747, 23178593, 23219551, 23523427, 25416956, 25910212, 25934149, 28514442, 31548606, 32296183, 33961781
GO:0005524	Function	ATP binding	IBA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	25934149
GO:0005634	Component	Nucleus	IDA	8798671, 12589063
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005958	Component	DNA-dependent protein kinase-DNA ligase 4 complex	IBA
GO:0005958	Component	DNA-dependent protein kinase-DNA ligase 4 complex	IDA	15194694, 34352203
GO:0005958	Component	DNA-dependent protein kinase-DNA ligase 4 complex	IEA
GO:0005958	Component	DNA-dependent protein kinase-DNA ligase 4 complex	ISS
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006284	Process	Base-excision repair	IDA	19589734
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	IBA
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	IDA	12517771, 17290226
GO:0006302	Process	Double-strand break repair	IDA	9242410, 19589734
GO:0006302	Process	Double-strand break repair	IEA
GO:0006302	Process	Double-strand break repair	ISS
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IBA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IDA	12517771, 17290226
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IGI	23275564
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IMP	9809069
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	TAS
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS
GO:0008283	Process	Cell population proliferation	ISS
GO:0010165	Process	Response to X-ray	IMP	9809069
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0010332	Process	Response to gamma radiation	IEA
GO:0010332	Process	Response to gamma radiation	ISS
GO:0016208	Function	AMP binding	IEA
GO:0016874	Function	Ligase activity	IDA	9242410
GO:0016874	Function	Ligase activity	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0032807	Component	DNA ligase IV complex	IBA
GO:0032807	Component	DNA ligase IV complex	IMP	9809069
GO:0033077	Process	T cell differentiation in thymus	ISS
GO:0033151	Process	V(D)J recombination	IDA	9809069
GO:0033151	Process	V(D)J recombination	IEA
GO:0033151	Process	V(D)J recombination	IEA
GO:0033152	Process	Immunoglobulin V(D)J recombination	IBA
GO:0033152	Process	Immunoglobulin V(D)J recombination	IEA
GO:0033153	Process	T cell receptor V(D)J recombination	IEA
GO:0033153	Process	T cell receptor V(D)J recombination	ISS
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035019	Process	Somatic stem cell population maintenance	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0045190	Process	Isotype switching	IEA
GO:0045190	Process	Isotype switching	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048144	Process	Fibroblast proliferation	IEA
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:0048146	Process	Positive regulation of fibroblast proliferation	ISS
GO:0050769	Process	Positive regulation of neurogenesis	IEA
GO:0050769	Process	Positive regulation of neurogenesis	ISS
GO:0051276	Process	Chromosome organization	IEA
GO:0051276	Process	Chromosome organization	ISS
GO:0051301	Process	Cell division	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051402	Process	Neuron apoptotic process	ISS
GO:0070419	Component	Nonhomologous end joining complex	IDA	20383123, 25941166
GO:0071285	Process	Cellular response to lithium ion	IEA
GO:0071479	Process	Cellular response to ionizing radiation	IGI	29463814
GO:0071897	Process	DNA biosynthetic process	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0075713	Process	Establishment of integrated proviral latency	TAS
GO:0097680	Process	Double-strand break repair via classical nonhomologous end joining	IMP	24837021
GO:1904155	Process	DN2 thymocyte differentiation	IEA
GO:2001252	Process	Positive regulation of chromosome organization	IMP	23275564

Other IDs

• MIM: 601837
• HGNC: 6601
• e!Ensembl: ENSG00000174405

Protein

• UniProt ID: P49917
• Protein name: DNA ligase 4 (EC 6.5.1.1) (DNA ligase IV) (Polydeoxyribonucleotide synthase [ATP] 4)
• Protein function: DNA ligase involved in DNA non-homologous end joining (NHEJ); required for double-strand break (DSB) repair and V(D)J recombination (PubMed:12517771, PubMed:17290226, PubMed:23523427, PubMed:29980672, PubMed:33586762, PubMed:8798671, PubMed:9242
• PDB: 1IK9, 2E2W, 3II6, 3VNN, 3W1B, 3W1G, 3W5O, 4HTO, 4HTP, 6BKF, 6BKG, 7D9K, 7D9Y, 7LSY, 7LT3, 7NFC, 7NFE, 8BH3, 8BHV, 8BHY, 8BOT, 8EZA, 8EZB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04675	DNA_ligase_A_N	15 → 208	DNA ligase N terminus	Family
  PF01068	DNA_ligase_A_M	248 → 451	ATP dependent DNA ligase domain	Domain
  PF04679	DNA_ligase_A_C	476 → 588		Family
  PF00533	BRCT	654 → 730	BRCA1 C Terminus (BRCT) domain	Family
  PF11411	DNA_ligase_IV	750 → 783	DNA ligase IV	Family
  PF00533	BRCT	813 → 898	BRCA1 C Terminus (BRCT) domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Testis, thymus, prostate and heart. {ECO:0000269|PubMed:7760816}.
• Sequence:

  MAASQTSQTVASHVPFADLCSTLERIQKSKGRAEKIRHFREFLDSWRKFHDALHKNHKDV
  TDSFYPAMRLILPQLERERMAYGIKETMLAKLYIELLNLPRDGKDALKLLNYRTPTGTHG
  DAGDFAMIAYFVLKPRCLQKGSLTIQQVNDLLDSIASNNSAKRKDLIKKSLLQLITQSSA
  LEQKWLIRMIIKDLKLGVSQQTIFSVFHNDAAELHNVTTDLEKVCRQLHDPSVGLSDISI
  TLFSAFKPMLAAIADIEHIEKDMKHQSFYIETKLDGERMQMHKDGDVYKYFSRNGYNYTD
  QFGASPTEGSLTPFIHNAFKADIQICILDGEMMAYNPNTQTFMQKGTKFDIKRMVEDSDL
  QTCYCVFDVLMVNNKKLGHETLRKRYEILSSIFTPIPGRIEIVQKTQAHTKNEVIDALNE
  AIDKREEGIMVKQPLSIYKPDKRGEGWLKIKPEYVSGLMDELDILIVGGYWGKGSRGGMM
  SHFLCAVAEKPPPGEKPSVFHTLSRVGSGCTMKELYDLGLKLAKYWKPFHRKAPPSSILC
  GTEKPEVYIEPCNSVIVQIKAAEIVPSDMYKTGCTLRFPRIEKIRDDKEWHECMTLDDLE
  QLRGKASGKLASKHLYIGGDDEPQEKKRKAAPKMKKVIGIIEHLKAPNLTNVNKISNIFE
  DVEFCVMSGTDSQPKPDLENRIAEFGGYIVQNPGPDTYCVIAGSENIRVKNIILSNKHDV
  VKPAWLLECFKTKSFVPWQPRFMIHMCPSTKEHFAREYDCYGDSYFIDTDLNQLKEVFSG
  IKNSNEQTPEEMASLIADLEYRYSWDCSPLSMFRRHTVYLDSYAVINDLSTKNEGTRLAI
  KALELRFHGAKVVSCLAEGVSHVIIGEDHSRVADFKAFRRTFKRKFKILKESWVTDSIDK
  CELQEENQYLI

• Sequence length: 911

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
DNA ligase IV deficiency	Pathogenic; Likely pathogenic	rs750080610, rs759838407, rs759829934, rs2138967445, rs2138974645, rs373938258, rs752339466, rs2138974907, rs2138978299, rs767195999, rs753883369, rs1286797317, rs2138978193, rs777008519, rs1386691031, rs2501597863, rs2501609911, rs1566358822, rs104894418, rs104894419, rs104894420, rs104894421, rs587776663, rs886037777, rs772226399, rs1566367610, rs770128720, rs2501631607, rs1164783105, rs2501597013, rs2501583917, rs2501615465, rs1304694234, rs1357639894, rs2501602006, rs2501591208, rs2501606132, rs2501614620, rs1216940721, rs1878332570, rs2501621470, rs2501624726, rs1317409403, rs2501620778, rs2501618509, rs2501598598, rs2501607524, rs2501616727, rs2501598195, rs2501582495, rs2501604455, rs2501604196, rs2501574019, rs2501605250, rs2501580855, rs2501589806, rs2501588488, rs1878227240, rs2501578919, rs948441067, rs1878361175, rs2501627619, rs2501610215, rs61731910, rs757994549, rs1307623377, rs1878415865, rs2501623572, rs1060499662, rs375554612, rs765317127, rs751070095, rs780879476, rs1246940345, rs1566366148, rs1566360837, rs1594458526, rs1594462950, rs757090161, rs1878251067, rs574912936	RCV001320593 RCV001885359 RCV001389935 RCV001533455 RCV001824262 RCV001844574 RCV001870931 RCV001952014 RCV001928912 RCV002004863 RCV002002469 RCV001972494 RCV001880861 RCV003058425 RCV002770223 RCV003011582 RCV003048117 RCV003045012 RCV000008111 RCV000008112 RCV000008113 RCV000008114 RCV000008117 RCV000241548 RCV000768258 RCV003232906 RCV003619668 RCV003509855 RCV003510453 RCV003510582 RCV003510586 RCV003510476 RCV003510532 RCV003511407 RCV003511078 RCV003511059 RCV003511144 RCV003509001 RCV003509002 RCV003509003 RCV003509004 RCV003511455 RCV003509314 RCV003509403 RCV003509970 RCV003510210 RCV003510355 RCV003510423 RCV003510427 RCV003619902 RCV003620106 RCV003620057 RCV003620691 RCV003620802 RCV003620900 RCV003620996 RCV003621178 RCV003621018 RCV003620982 RCV003621156 RCV003621288 RCV003621332 RCV003621304 RCV003621261 RCV003621425 RCV003619347 RCV003620240 RCV003619636 RCV003864278 RCV003881400 RCV000449526 RCV000641087 RCV001204413 RCV000704058 RCV000601286 RCV000690275 RCV001860490 RCV000687607 RCV003509606 RCV000791619 RCV001007660 RCV001070391 RCV001043969 RCV001048790 RCV001257441 RCV001297827	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LIG4-related disorder	Likely pathogenic; Pathogenic	rs104894419, rs772226399, rs2501600808, rs375554612, rs765317127	RCV004532308 RCV000267680 RCV004540864 RCV004535497 RCV001535528	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple myeloma	Likely pathogenic; Pathogenic	rs759829934, rs752339466, rs2138978299, rs104894418, rs104894419, rs772226399, rs104894421, rs1317409403, rs948441067, rs375554612, rs759838407, rs751070095, rs780879476	RCV005005244 RCV005005322 RCV005002677 RCV005007834 RCV000763320 RCV002494809 RCV005013036 RCV005013049 RCV005013102 RCV005010384 RCV005004193 RCV005004268 RCV005010594	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Papillary thyroid carcinoma	Likely pathogenic	rs751409106	RCV000761169	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
prenatal LIG4 syndrome with aqueductal stenosis	Likely pathogenic; Pathogenic	rs104894419, rs1131691430, rs759838407	RCV003483426 RCV003483638 RCV003483642	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency disease	Pathogenic	rs104894421, rs765317127, rs777008519	RCV005417421 RCV004690433 RCV005239131 RCV002240198	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUBOWITZ SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIG4 SYNDROME	—	CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple myeloma, resistance to	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMENN SYNDROME	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to DCLRE1C deficiency	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Actinic keratosis	Actinic keratosis	BEFREE	29036257		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	23752193		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	23137018		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	23752193		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	11773279, 26774591		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	14500378		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	27063650, 35592332, 37004747	Associate	★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	29016854		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37333771	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis	Amyloidosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	12467894, 9507962		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	15455350		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	30607663, 6266484		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	31831297		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24344280		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29016854		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	37004747	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19174520, 26774591		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	30617623		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	24602044		★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	24123394, 25239263	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	26774591		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10563836, 12023982, 12243508, 16485136, 18377693, 22994770, 26586787, 28780472, 30371505, 9530343, 9684856		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20496270	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	10469634		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12953085, 15077011, 15609317, 25811031, 30453383, 9197244		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21187397		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	28976792	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29438799		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	20400235		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	14500378		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	22302399		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	2005641, 7736449		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	GENOMICS_ENGLAND_DG	11779494		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	25728776		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	8878776		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24282031, 29277765		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23422094, 24282031		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31243170	Associate	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	16585603, 26762768		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	23571153, 30612150		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14663360		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	21390047		★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	24123394	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25158232		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	11779494, 16358361, 27063650, 38351293	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19147782, 23752193		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19147782, 23752193		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21985917		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	11773279, 16047061, 26774591, 28690315		★☆☆☆☆ Found in Text Mining only
DNA Ligase I Deficiency	DNA Ligase I Deficiency	BEFREE	31630206		★☆☆☆☆ Found in Text Mining only
Dubowitz syndrome	Dubowitz Syndrome	BEFREE	23372718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dubowitz syndrome	Dubowitz syndrome	Pubtator	23372718, 24892279, 27612988	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dubowitz syndrome	Dubowitz Syndrome	ORPHANET_DG	24892279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dubowitz syndrome	Dubowitz Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	CLINVAR_DG	11779494, 24123394		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	24892279, 27612988	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11779494, 15333585, 16088910, 16357942, 17345618, 23372718, 26151233, 26172957, 26762768		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	27612988	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	11089573		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	11124945, 15199173	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	18384736, 20368557, 20879987, 23334228, 23340988, 24469053, 26940435, 28148826, 28822335, 29572254, 29644711		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20368557, 35440003	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12684420, 18384736, 20368557, 20879987, 21464220, 23334228, 24469053, 26940435, 28148826, 28822335, 29572254, 29644711		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18165945, 23663450, 25973104		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23663450, 25973104	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	11779494, 16358361		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	24027040	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	11779494, 23722522, 24123394, 25728776, 27063650, 27612988, 37437665, 38351293	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	38351293	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
IgA Deficiency	Selective immunoglobulin a deficiency	Pubtator	32471509	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	27063650	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32471509	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30260276		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	28082406		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	31519773		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	22302399		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10395545, 12471202, 16358361, 24530422		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11349135, 16358361	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36308385	Associate	★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	18973931		★☆☆☆☆ Found in Text Mining only
LIG4 Syndrome	LIG4 Syndrome	GENOMICS_ENGLAND_DG	11779494, 16357942, 27537055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIG4 Syndrome	LIG4 Syndrome	CLINVAR_DG	11779494, 15333585, 16088910, 23372718, 24027040, 24123394, 24892279, 25239263, 27063650, 27612988, 27855655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIG4 Syndrome	LIG4 Syndrome	UNIPROT_DG	11779494		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIG4 Syndrome	LIG4 Syndrome	BEFREE	15279811, 15333585, 16357942, 17554302, 19418549, 20133615, 22373003, 24629483, 26172957		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIG4 Syndrome	Lig4 syndrome	Pubtator	17224058	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIG4 Syndrome	LIG4 Syndrome	ORPHANET_DG	23372718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIG4 syndrome	LIG4 Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIG4 Syndrome	Lig4 syndrome	Pubtator	23722522, 24027040, 32471509, 32534991, 34630384, 36221079, 37437665	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIG4 Syndrome	Lig4 syndrome	Pubtator	36221079, 38351293	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIG4 Syndrome	LIG4 Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28856922		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	8878776		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	8878776		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19408343	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	24415301		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	12150897, 21968944		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	CLINVAR_DG	11779494, 24123394		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	30061307		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	12471202		★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28034960		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	15455350, 18089777		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10563836, 12023982, 12243508, 16485136, 18377693, 22994770, 26586787, 28780472, 30371505, 9530343, 9684856		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12953085, 15077011, 15609317, 25811031, 30453383, 9197244		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28856922		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21187397		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19147782		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26134445, 28667390, 30305041		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	20811692		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18568480, 20534572, 20687497, 23081862, 24123394, 24157870, 25314918, 25973104, 29426908, 30076617, 30453383, 30523770, 31604460		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24282031, 29277765		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	19418549, 19467349, 26774591, 31630206		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18534129		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	14500378		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21390047		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	11779494		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	16358361, 19418549, 20133615, 21721379, 22373003, 24123394, 26774591		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	16358361, 23722522, 24123394, 32471509, 32534991, 38351293	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	17551003		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	34528560	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12471202		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Myeloma	Multiple myeloma	LHGDN	12471202		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Myeloma	Multiple myeloma	Pubtator	12471202	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Myeloma	Multiple myeloma	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Myeloma	Multiple myeloma	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Myeloma	Multiple myeloma	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Sclerosis	Multiple Sclerosis	BEFREE	26562193		★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	19462419		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	27497341, 31667665		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	25239263, 27497341, 32471509, 36221079	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	25605214	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11724299, 11981013, 12471202, 18602834, 20837600, 21968944, 23334228, 23422094, 24282031, 26134445, 28328619, 29331023, 30719430, 7882284		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31831297		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25563294	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28780472		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	27612988	Associate	★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	12702161, 16088910, 30607663		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19408343, 21717429, 23934192, 24722796		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn syndrome	Omenn Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	21187397		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19127255, 20386703	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19147782		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19147782	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	24123394, 30719430, 31604460		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	Pubtator	25728776, 27063650, 36221079, 37437665	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraproteinemias	Paraproteinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	16773329		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
PITUITARY DWARFISM I	Pituitary dwarfism	CLINVAR_DG	11779494, 24123394		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	19174520		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	17541392		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	23571153		★☆☆☆☆ Found in Text Mining only
Propionic acidemia	Propionic acidemia	BEFREE	28774709		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26134445, 28667390, 30305041		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23936089, 30271587	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	29063620		★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	29415984		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	29415984	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12574395, 19451263		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24344280		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	GENOMICS_ENGLAND_DG	11779494		★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	BEFREE	24123394, 25728776		★☆☆☆☆ Found in Text Mining only
Seckel syndrome 1	Seckel syndrome	Pubtator	24123394, 25728776	Associate	★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	23422094		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	10699181, 16357942, 16358361, 21721379, 24123394, 25987660, 26055221, 26172957, 27717373, 30719430, 31604460		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	LHGDN	16357942, 18845326		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	16358361, 21721379, 24123394, 35303369, 40457861	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	27537055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation	BEFREE	22373003		★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency with sensitivity to ionizing radiation	Combined Immunodeficiency	GENOMICS_ENGLAND_DG	16357942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency with sensitivity to ionizing radiation	Combined Immunodeficiency	BEFREE	30061307		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY	Spinocerebellar Ataxia, WITH AXONAL NEUROPATHY	BEFREE	31831297		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	21708019		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18973931		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34528560	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	18768166		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21390502		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	24123394	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	20811692		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	20811692		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	20837600		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	28034960		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	18524993		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	29943473		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	11054518, 15966765, 2056185, 8956362		★☆☆☆☆ Found in Text Mining only