UNC13D (unc-13 homolog D)

Gene

• Entrez ID: 201294
• Gene name: Unc-13 homolog D
• Gene symbol: UNC13D
• Synonyms (NCBI Gene): FHL3, HLH3, HPLH3, Munc13-4
• Chromosome: 17
• Chromosome location: 17q25.1
• Summary: This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs117221419	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs121434352	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs121434353	A>G	Pathogenic	Coding sequence variant, missense variant
rs121434354	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs138760432	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142335129	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144968313	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs149871493	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201908137	C>A,T	Pathogenic	Splice donor variant
rs202020396	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs747169857	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs754621494	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs754882266	C>T	Likely-pathogenic	Splice donor variant
rs763117746	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs764196809	CCCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs765034513	C>T	Likely-pathogenic	Intron variant
rs766657895	G>A	Pathogenic	Coding sequence variant, stop gained
rs777759523	C>T	Pathogenic	Splice donor variant
rs796065024	AGCGCGCTGCAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs796065025	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs796065026	->A	Pathogenic	Coding sequence variant, frameshift variant
rs910650073	T>C	Pathogenic	Splice acceptor variant
rs933702160	C>G	Pathogenic	Splice donor variant
rs959968589	G>A	Pathogenic	Intron variant
rs1157287613	G>A	Pathogenic	Coding sequence variant, stop gained
rs1165696705	C>G,T	Likely-pathogenic	Splice donor variant
rs1274685768	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1388957809	C>G	Likely-pathogenic	Splice acceptor variant
rs1555600214	C>T	Likely-pathogenic	Splice donor variant
rs1555601754	A>T	Pathogenic	Stop gained, coding sequence variant
rs1555601863	C>T	Likely-pathogenic	Splice acceptor variant
rs1567816070	->TCCA	Pathogenic	Frameshift variant, coding sequence variant
rs1567818219	ATCTCATGGC>TCGGACAAGGTA	Pathogenic	Frameshift variant, coding sequence variant
rs1567818774	G>A	Pathogenic	Stop gained, coding sequence variant
rs1599414759	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017327	hsa-miR-335-5p	Microarray	18185580
MIRT023568	hsa-miR-1-3p	Proteomics	18668040
MIRT032278	hsa-let-7b-5p	Proteomics	18668040
MIRT044594	hsa-miR-320a	CLASH	23622248
MIRT650869	hsa-miR-665	HITS-CLIP	23824327
MIRT650868	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT650867	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT650866	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT650865	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT650864	hsa-miR-4469	HITS-CLIP	23824327
MIRT650863	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT650862	hsa-miR-4287	HITS-CLIP	23824327
MIRT650861	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT650860	hsa-miR-1207-5p	HITS-CLIP	23824327
MIRT650859	hsa-miR-4763-3p	HITS-CLIP	23824327
MIRT650858	hsa-miR-4736	HITS-CLIP	23824327
MIRT650857	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT650856	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT650855	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT650854	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT650853	hsa-miR-7150	HITS-CLIP	23824327
MIRT650852	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT650869	hsa-miR-665	HITS-CLIP	23824327
MIRT650868	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT650867	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT650866	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT650865	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT650864	hsa-miR-4469	HITS-CLIP	23824327
MIRT650863	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT650862	hsa-miR-4287	HITS-CLIP	23824327
MIRT650861	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT650860	hsa-miR-1207-5p	HITS-CLIP	23824327
MIRT650859	hsa-miR-4763-3p	HITS-CLIP	23824327
MIRT650858	hsa-miR-4736	HITS-CLIP	23824327
MIRT650857	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT650856	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT650855	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT650854	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT650853	hsa-miR-7150	HITS-CLIP	23824327
MIRT650852	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT1475346	hsa-miR-1254	CLIP-seq
MIRT1475347	hsa-miR-1343	CLIP-seq
MIRT1475348	hsa-miR-1915	CLIP-seq
MIRT1475349	hsa-miR-3116	CLIP-seq
MIRT1475350	hsa-miR-3176	CLIP-seq
MIRT1475351	hsa-miR-361-3p	CLIP-seq
MIRT1475352	hsa-miR-3922-3p	CLIP-seq
MIRT1475353	hsa-miR-4436b-3p	CLIP-seq
MIRT1475354	hsa-miR-4645-5p	CLIP-seq
MIRT1475355	hsa-miR-4673	CLIP-seq
MIRT1475356	hsa-miR-4685-5p	CLIP-seq
MIRT1475357	hsa-miR-4701-5p	CLIP-seq
MIRT1475358	hsa-miR-516a-3p	CLIP-seq
MIRT1475359	hsa-miR-588	CLIP-seq
MIRT2143236	hsa-miR-1827	CLIP-seq
MIRT2143237	hsa-miR-1909	CLIP-seq
MIRT2143238	hsa-miR-3612	CLIP-seq
MIRT2143239	hsa-miR-3689a-3p	CLIP-seq
MIRT2143240	hsa-miR-3689c	CLIP-seq
MIRT2143241	hsa-miR-4728-5p	CLIP-seq
MIRT2143242	hsa-miR-650	CLIP-seq
MIRT2143243	hsa-miR-940	CLIP-seq
MIRT2363529	hsa-miR-129-3p	CLIP-seq
MIRT2363530	hsa-miR-3166	CLIP-seq
MIRT2363531	hsa-miR-4476	CLIP-seq
MIRT2363532	hsa-miR-4700-3p	CLIP-seq
MIRT2363533	hsa-miR-548g	CLIP-seq
MIRT2363534	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002432	Process	Granuloma formation	IEA
GO:0002467	Process	Germinal center formation	IEA
GO:0005515	Function	Protein binding	IPI	15548590, 16278825, 25312756, 26627825, 33513601
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	15548590
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006887	Process	Exocytosis	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0016020	Component	Membrane	IEA
GO:0031267	Function	Small GTPase binding	IDA	22899725
GO:0031267	Function	Small GTPase binding	IPI	22899725
GO:0033093	Component	Weibel-Palade body	IDA	22899725
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043304	Process	Regulation of mast cell degranulation	IMP	15548590
GO:0043320	Process	Natural killer cell degranulation	IEA
GO:0045921	Process	Positive regulation of exocytosis	IMP	15548590, 19966785
GO:0046872	Function	Metal ion binding	IEA
GO:0046903	Process	Secretion	IBA
GO:0051607	Process	Defense response to virus	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055037	Component	Recycling endosome	IEA
GO:0070382	Component	Exocytic vesicle	IBA
GO:0070382	Component	Exocytic vesicle	IDA	17237785
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IEA
GO:1903307	Process	Positive regulation of regulated secretory pathway	IGI	22899725

Other IDs

• MIM: 608897
• HGNC: 23147
• e!Ensembl: ENSG00000092929

Protein

• UniProt ID: Q70J99
• Protein name: Protein unc-13 homolog D (Munc13-4)
• Protein function: Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00168	C2	112 → 263	C2 domain	Domain
  PF10540	Membr_traf_MHD	830 → 894	Munc13 (mammalian uncoordinated) homology domain	Domain
  PF00168	C2	925 → 1039	C2 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at high levels in spleen, thymus and leukocytes. Also expressed in lung and placenta, and at very low levels in brain, heart, skeletal muscle and kidney. Expressed in cytotoxic T-lymphocytes (CTL) and mast cells. {ECO:0000269
• Sequence:

  MATLLSHPQQRPPFLRQAIKIRRRRVRDLQDPPPQMAPEIQPPSHHFSPEQRALLYEDAL
  YTVLHRLGHPEPNHVTEASELLRYLQEAFHVEPEEHQQTLQRVRELEKPIFCLKATVKQA
  KGILGKDVSGFSDPYCLLGIEQGVGVPGGSPGSRHRQKAVVRHTIPEEETHRTQVITQTL
  NPVWDETFILEFEDITNASFHLDMWDLDTVESVRQKLGELTDLHGLRRIFKEARKDKGQD
  DFLGNVVLRLQDLRCREDQWYPLEPRTETYPDRGQCHLQFQLIHKRRATSASRSQPSYTV
  HLHLLQQLVSHEVTQHEAGSTSWDGSLSPQAATVLFLHATQKDLSDFHQSMAQWLAYSRL
  YQSLEFPSSCLLHPITSIEYQWIQGRLKAEQQEELAASFSSLLTYGLSLIRRFRSVFPLS
  VSDSPARLQSLLRVLVQMCKMKAFGELCPNTAPLPQLVTEALQTGTTEWFHLKQQHHQPM
  VQGIPEAGKALLGLVQDVIGDLHQCQRTWDKIFHNTLKIHLFSMAFRELQWLVAKRVQDH
  TTVVGDVVSPEMGESLFQLYISLKELCQLRMSSSERDGVLALDNFHRWFQPAIPSWLQKT
  YNEALARVQRAVQMDELVPLGELTKHSTSAVDLSTCFAQISHTARQLDWPDPEEAFMITV
  KFVEDTCRLALVYCSLIKARARELSSGQKDQGQAANMLCVVVNDMEQLRLVIGKLPAQLA
  WEALEQRVGAVLEQGQLQNTLHAQLQSALAGLGHEIRTGVRTLAEQLEVGIAKHIQKLVG
  VRESVLPEDAILPLMKFLEVELCYMNTNLVQENFSSLLTLLWTHTLTVLVEAAASQRSSS
  LASNRLKIALQNLEICFHAEGCGLPPKALHTATFQALQRDLELQAASSRELIRKYFCSRI
  QQQAETTSEELGAVTVKASYRASEQKLRVELLSASSLLPLDSNGSSDPFVQLTLEPRHEF
  PELAARETQKHKKDLHPLFDETFEFLVPAEPCRKAGACLLLTVLDYDTLGADDLEGEAFL
  PLREVPGLSGSEEPGEVPQTRLPLTYPAPNGDPILQLLEGRKGDREAQVFVRLRRHRAKQ
  ASQHALRPAP

• Sequence length: 1090

Pathways

Reactome:

Neutrophil degranulation

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
Autoinflammatory syndrome	Likely pathogenic; Pathogenic	rs754205110, rs755348845, rs769243366, rs747180228, rs2143878241, rs868318523, rs1418183549, rs1446115570, rs2143860891, rs770325118, rs777759523, rs121434352, rs766657895, rs764196809, rs1274685768	RCV002264288 RCV002264425 RCV002264436 RCV002264549 RCV002264550 RCV002264552 RCV002264553 RCV002264555 RCV002264560 RCV002264563 RCV002262537 RCV002262538 RCV002263024 RCV002263696 RCV002263969	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Pathogenic	rs777759523	RCV005887201	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs754205110	RCV005912632	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hemophagocytic lymphohistiocytosis	Likely pathogenic; Pathogenic	rs1048876742, rs201908137, rs121434353, rs2545985543, rs2545987351, rs768171054, rs2064960622, rs764196809, rs754621494, rs959968589, rs1157287613, rs1041960684	RCV004782841 RCV006268065 RCV005430913 RCV004700877 RCV003226617 RCV005063026 RCV005240958 RCV004767293 RCV001778988 RCV002265832 RCV002298791 RCV005438053	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hemophagocytic lymphohistiocytosis 3	Pathogenic; Likely pathogenic	rs775862197, rs1163596220, rs2143876026, rs1422897832, rs766615729, rs754205110, rs2143892028, rs943094444, rs1234936765, rs2143904721, rs1019391145, rs753990040, rs2143861305, rs2064882892, rs2143893153, rs1244919509, rs755348845, rs866629962, rs2064937140, rs1287388302, rs752651197, rs2143883327, rs1048876742, rs769243366, rs201589664, rs2143865621, rs2064860460, rs1426054272, rs747180228, rs770325118, rs796065024, rs796065025, rs796065026, rs777759523, rs121434352, rs201908137, rs121434353, rs121434354, rs2545985344, rs755619812, rs2064956872, rs1234036848, rs1483109904, rs1471901138, rs2545985776, rs2545976918, rs2545978868, rs2545985543, rs2545980665, rs2545987854, rs2545977102, rs2064862256, rs2064936438, rs2545988497, rs1252952514, rs1555600214, rs2545988081, rs2545984867, rs2545974359, rs774921373, rs2545976911, rs375472517, rs2545981250, rs2545981285, rs2545981838, rs2545982383, rs768171054, rs746341454, rs2545988129, rs2545976468, rs2545987244, rs2545982922, rs2545976434, rs2545979720, rs1029026260, rs2545980087, rs2545974345, rs2545982718, rs2545977792, rs756652448, rs2545981626, rs757706998, rs2545981358, rs2545988044, rs769371398, rs2545975129, rs2545977782, rs2545975170, rs2545988159, rs2545976906, rs1462252996, rs1363960054, rs1160623744, rs2064961372, rs2545980063, rs2545988136, rs2545985023, rs2545984930, rs1567816724, rs775572639, rs2545981234, rs981574088, rs2064960622, rs2545977596, rs1030766172, rs766657895, rs747169857, rs764196809, rs1555601863, rs754621494, rs754882266, rs959968589, rs1555601754, rs763117746, rs1567818774, rs1567816070, rs1278701043, rs1567818219, rs1274685768, rs1157287613, rs1165696705, rs1388957809, rs765034513, rs910650073, rs933702160, rs1599414759, rs1442964152, rs2064936948, rs1041960684, rs2064960126, rs143184345, rs1446025324, rs764507196, rs754292065, rs1005334519, rs2064957038, rs2064970978, rs1381855537	RCV001383120 RCV001380034 RCV001388109 RCV001386311 RCV001388111 RCV001383010 RCV001390033 RCV001388009 RCV001388110 RCV001380129 RCV001728113 RCV001728114 RCV001785112 RCV001785113 RCV001808212 RCV003603109 RCV001920466 RCV001990613 RCV001925554 RCV002050018 RCV001950836 RCV001946711 RCV001977787 RCV001942001 RCV001911512 RCV002046853 RCV001914052 RCV002251040 RCV003603116 RCV003497947 RCV000002073 RCV000002074 RCV000002075 RCV000002076 RCV000002077 RCV000002078 RCV000002079 RCV000002080 RCV003064490 RCV003064491 RCV003050492 RCV003100236 RCV003100237 RCV002592039 RCV002632467 RCV002585605 RCV002870781 RCV002871978 RCV002976595 RCV003028825 RCV003037544 RCV003052402 RCV003340976 RCV003498034 RCV003498095 RCV003498952 RCV003498931 RCV003498942 RCV003499130 RCV003499118 RCV003497338 RCV003497339 RCV003497340 RCV003497341 RCV003497342 RCV003497343 RCV003497344 RCV003497345 RCV003497346 RCV003497691 RCV003497704 RCV003498549 RCV003498424 RCV003497803 RCV003498721 RCV003603400 RCV003604081 RCV003604061 RCV003604067 RCV003604131 RCV003604237 RCV003604409 RCV003604426 RCV003604260 RCV003604314 RCV003604453 RCV003604741 RCV003604737 RCV003604830 RCV003604909 RCV003604973 RCV003604906 RCV003604769 RCV003604963 RCV003604796 RCV003604933 RCV003602580 RCV003602605 RCV003602601 RCV003602693 RCV003602730 RCV003603985 RCV003832840 RCV003848326 RCV003843030 RCV003859742 RCV003875833 RCV003874877 RCV000323586 RCV001861424 RCV000524829 RCV000509013 RCV000509027 RCV003497856 RCV000640104 RCV000640100 RCV000640096 RCV000704492 RCV000695218 RCV000690614 RCV000691140 RCV000686295 RCV000778518 RCV000822959 RCV000792676 RCV000806924 RCV000801425 RCV002549658 RCV001728095 RCV000991403 RCV001040939 RCV001051810 RCV001053702 RCV001038504 RCV001090162 RCV001215390 RCV001215391 RCV001210685 RCV001218863 RCV001240977 RCV001248651 RCV003497919	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs754205110	RCV005912633	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UNC13D-related disorder	Likely pathogenic; Pathogenic	rs866629962, rs1048876742, rs121434352	RCV004746549 RCV003408039 RCV004745140	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HEMOPHAGOCYTIC LYMPHOCYTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	21370424		★☆☆☆☆ Found in Text Mining only
Agranulocytosis	Agranulocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	18240215		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	18240215, 18759271, 25047945, 29409136	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	23840885, 24043286, 29864493		★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	23840885	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22362714, 29930202		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22362714	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22362714	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31935687	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	25137373	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	25137373	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	30510241		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	30510241		★☆☆☆☆ Found in Text Mining only
Cystinosis	Cystinosis	BEFREE	30892133		★☆☆☆☆ Found in Text Mining only
Familial hemophagocytic lymphohistiocytosis	Hemophagocytic Lymphohistiocytosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31693182		★☆☆☆☆ Found in Text Mining only
Griscelli syndrome type 1	Griscelli syndrome	Pubtator	25312756	Associate	★☆☆☆☆ Found in Text Mining only
Griscelli syndrome type 2	Griscelli syndrome	Pubtator	19704116	Associate	★☆☆☆☆ Found in Text Mining only
GRISCELLI SYNDROME, TYPE 2	Griscelli syndrome	BEFREE	19704116, 23810987		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	16825436	Associate	★☆☆☆☆ Found in Text Mining only
Hemophagocytic lymphohistiocytosis familial 3	Hemophagocytic lymphohistiocytosis	Pubtator	18492689, 19704116, 21248318, 21931115, 24842371, 29409136, 32582217, 36401200, 38212754	Associate	★☆☆☆☆ Found in Text Mining only
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2	Hemophagocytic Lymphohistiocytosis	BEFREE	28238659		★☆☆☆☆ Found in Text Mining only
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3	Hemophagocytic Lymphohistiocytosis	BEFREE	14622600, 18492689, 23180437, 24825797, 29549174, 31032638		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3	Hemophagocytic Lymphohistiocytosis	CLINVAR_DG	14622600, 16278825, 16825436, 17993578, 18492689, 19484379, 19704116, 20823128, 21152410, 21248318, 21674762, 21755595, 21931115, 23180437, 23669735, 24139496, 24470399, 24825797, 24842371, 24935083, 25553300, 25573973, 26342526		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3	Hemophagocytic Lymphohistiocytosis	GENOMICS_ENGLAND_DG	15703195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3	Hemophagocytic Lymphohistiocytosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhage	Hemorrhage	Pubtator	28399723	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytosis haematophagic	Histiocytosis Haematophagic	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Histiocytosis haematophagic	Histiocytosis Haematophagic	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	21646258		★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	25312756		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	21182842, 21755595		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	37325673	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	18311812, 18759271, 29409136		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21370424	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	29599780, 33658321	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21370424	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	23810987		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	24935083	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	14622600, 15466010, 15632205, 16778144, 16825436, 17525286, 17785771, 18240215, 18311812, 18492689, 18710388, 18759271, 19884660, 20015888, 20823128, 21152410, 21370424, 21653941, 21881043, 22796692, 22970278, 23287865, 23709445, 23840885, 24916509, 24935083, 25233452, 25312756, 26342526, 26377049, 27209435, 28270454, 28399723, 28468610, 29146706, 29157204, 29410181, 29549174, 29649976, 29783935, 30295794, 30758854, 30899265, 31562900, 32076423, 32245292, 32375849, 32542393, 32582217, 33658321, 33746956, 33867526, 34537050, 34677667, 34693523, 35870028, 36401200, 38183241, 38212754	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	LHGDN	14622600, 16278825, 16778144, 18311812, 18432499, 18492689, 19131769		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	16825436, 18240215, 18311812, 18421721, 18759271, 21370424, 21646258, 21881043, 23709445, 24470399, 24935083, 25980904, 26987330, 27896523, 28353193, 29157204, 29410181, 29783935, 30758854, 30892133		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30758854		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	30758854	Associate	★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	18240215, 18759271, 25047945, 29409136		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27777418		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	22362714		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	22362714		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	35197088	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23840885		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	23840885	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	23810987		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31935687, 39210440	Associate	★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	24842371		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Splenomegaly	Splenomegaly	Pubtator	16825436, 21248318	Associate	★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	BEFREE	18240215, 18311812, 18759271, 29409136		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	21248318	Associate	★☆☆☆☆ Found in Text Mining only