CSF1R (colony stimulating factor 1 receptor)

Gene

• Entrez ID: 1436
• Gene name: Colony stimulating factor 1 receptor
• Gene symbol: CSF1R
• Synonyms (NCBI Gene): BANDDOS, C-FMS, CD115, CSF-1R, CSFR, FIM2, FMS, GPSC, HDLS, HDLS1, M-CSF-R
• Chromosome: 5
• Chromosome location: 5q32
• Summary: The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Li

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801271	T>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121913390	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs121913392	A>C,T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121913393	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs143025739	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs184499252	G>A,T	Likely-benign, benign, pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs281860267	T>C	Pathogenic	Splice acceptor variant
rs281860268	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860269	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860270	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860271	C>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860272	T>C	Pathogenic	Splice acceptor variant
rs281860273	A>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860274	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860275	C>G	Pathogenic	Intron variant
rs281860276	AGA>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs281860277	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860278	A>C,G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860279	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860280	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860281	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906662	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397515555	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397515556	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397515557	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs587777245	->A	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587777246	C>A	Pathogenic	Splice donor variant
rs587777247	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016546	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs690016547	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016548	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016549	A>G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016550	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016551	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016552	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016553	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016554	T>C	Pathogenic	Splice acceptor variant
rs690016555	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016556	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs690016557	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016558	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016559	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016560	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016561	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016562	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016563	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016564	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016565	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016566	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs917027829	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1057519802	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057520014	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1351319114	G>A	Pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1554101963	TCT>-	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs1561901881	C>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1561904557	GGAT>TGCC	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1561905293	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1561912628	C>T	Pathogenic	Intron variant
rs1561913526	C>G	Pathogenic	Splice acceptor variant
rs1581280059	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1581289103	CT>-	Pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006103	hsa-miR-155-5p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	21355095
MIRT006103	hsa-miR-155-5p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	21355095
MIRT006103	hsa-miR-155-5p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	21355095
MIRT006103	hsa-miR-155-5p	Other	20584899
MIRT438232	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR	24198819
MIRT438232	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR	24198819
MIRT438231	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT438231	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT006103	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT006103	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT438232	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR	24198819
MIRT438232	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR	24198819
MIRT438231	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT438231	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT006103	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT006103	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR	24198819
MIRT911688	hsa-miR-2861	CLIP-seq
MIRT911689	hsa-miR-3120-5p	CLIP-seq
MIRT911690	hsa-miR-3160-3p	CLIP-seq
MIRT911691	hsa-miR-3659	CLIP-seq
MIRT911692	hsa-miR-3675-5p	CLIP-seq
MIRT911693	hsa-miR-3689a-3p	CLIP-seq
MIRT911694	hsa-miR-3689c	CLIP-seq
MIRT911695	hsa-miR-4487	CLIP-seq
MIRT911696	hsa-miR-4639-3p	CLIP-seq
MIRT911697	hsa-miR-4651	CLIP-seq
MIRT911698	hsa-miR-4658	CLIP-seq
MIRT911699	hsa-miR-4727-5p	CLIP-seq
MIRT911700	hsa-miR-4728-5p	CLIP-seq
MIRT911701	hsa-miR-4769-3p	CLIP-seq
MIRT911702	hsa-miR-558	CLIP-seq
MIRT911703	hsa-miR-574-5p	CLIP-seq
MIRT911704	hsa-miR-608	CLIP-seq
MIRT911705	hsa-miR-622	CLIP-seq
MIRT911700	hsa-miR-4728-5p	CLIP-seq
MIRT2206225	hsa-miR-3175	CLIP-seq
MIRT911693	hsa-miR-3689a-3p	CLIP-seq
MIRT911694	hsa-miR-3689c	CLIP-seq
MIRT2206226	hsa-miR-4265	CLIP-seq
MIRT2206227	hsa-miR-4296	CLIP-seq
MIRT2206228	hsa-miR-4322	CLIP-seq
MIRT2206229	hsa-miR-4648	CLIP-seq
MIRT2206230	hsa-miR-4654	CLIP-seq
MIRT2206231	hsa-miR-4670-3p	CLIP-seq
MIRT2206232	hsa-miR-4693-3p	CLIP-seq
MIRT911700	hsa-miR-4728-5p	CLIP-seq
MIRT2206233	hsa-miR-4769-5p	CLIP-seq
MIRT2447701	hsa-miR-219-1-3p	CLIP-seq
MIRT2206225	hsa-miR-3175	CLIP-seq
MIRT2447702	hsa-miR-3616-5p	CLIP-seq
MIRT2447703	hsa-miR-3647-5p	CLIP-seq
MIRT911693	hsa-miR-3689a-3p	CLIP-seq
MIRT911694	hsa-miR-3689c	CLIP-seq
MIRT2206226	hsa-miR-4265	CLIP-seq
MIRT2206227	hsa-miR-4296	CLIP-seq
MIRT2206228	hsa-miR-4322	CLIP-seq
MIRT2206229	hsa-miR-4648	CLIP-seq
MIRT2206230	hsa-miR-4654	CLIP-seq
MIRT2206231	hsa-miR-4670-3p	CLIP-seq
MIRT911700	hsa-miR-4728-5p	CLIP-seq
MIRT2206233	hsa-miR-4769-5p	CLIP-seq
MIRT2447704	hsa-miR-573	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NR3C1	Unknown	11891846
RUNX1	Unknown	8585955;9209363

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	20504948
GO:0002376	Process	Immune system process	IEA
GO:0002573	Process	Myeloid leukocyte differentiation	IEA
GO:0002931	Process	Response to ischemia	IEA
GO:0002931	Process	Response to ischemia	ISS	8922060
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	TAS	23392676
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0005011	Function	Macrophage colony-stimulating factor receptor activity	IBA
GO:0005011	Function	Macrophage colony-stimulating factor receptor activity	IEA
GO:0005011	Function	Macrophage colony-stimulating factor receptor activity	IMP	7683918, 20504948
GO:0005011	Function	Macrophage colony-stimulating factor receptor activity	ISS
GO:0005011	Function	Macrophage colony-stimulating factor receptor activity	TAS	8981357
GO:0005515	Function	Protein binding	IPI	22153499, 22483114, 22902366, 23478061, 26235028, 35384245
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	2421165
GO:0006950	Process	Response to stress	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	TAS	19132917
GO:0007165	Process	Signal transduction	TAS	8981357
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	ISS
GO:0007411	Process	Axon guidance	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008283	Process	Cell population proliferation	IMP	7683918
GO:0008283	Process	Cell population proliferation	TAS	8981357
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	20504948
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0008360	Process	Regulation of cell shape	IMP	15117969
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS	8922060
GO:0010759	Process	Positive regulation of macrophage chemotaxis	IGI	26754294
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	20504948
GO:0019221	Process	Cytokine-mediated signaling pathway	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IMP	20504948
GO:0019838	Function	Growth factor binding	IBA
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0019955	Function	Cytokine binding	IDA	20504948
GO:0019955	Function	Cytokine binding	IEA
GO:0019955	Function	Cytokine binding	ISS	19017797
GO:0021772	Process	Olfactory bulb development	IEA
GO:0021879	Process	Forebrain neuron differentiation	IEA
GO:0022604	Process	Regulation of cell morphogenesis	IEA
GO:0030097	Process	Hemopoiesis	IMP	7683918
GO:0030224	Process	Monocyte differentiation	TAS	19132917
GO:0030225	Process	Macrophage differentiation	TAS	19132917
GO:0030316	Process	Osteoclast differentiation	IBA
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030316	Process	Osteoclast differentiation	ISS
GO:0030335	Process	Positive regulation of cell migration	IBA
GO:0031529	Process	Ruffle organization	IEA
GO:0031529	Process	Ruffle organization	ISS
GO:0032722	Process	Positive regulation of chemokine production	IMP	20829061
GO:0032956	Process	Regulation of actin cytoskeleton organization	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	ISS
GO:0036006	Process	Cellular response to macrophage colony-stimulating factor stimulus	IEA
GO:0036006	Process	Cellular response to macrophage colony-stimulating factor stimulus	IMP	7683918, 20504948
GO:0038145	Process	Macrophage colony-stimulating factor signaling pathway	IEA
GO:0038145	Process	Macrophage colony-stimulating factor signaling pathway	ISS
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	ISS
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS	19017797
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0043408	Process	Regulation of MAPK cascade	IBA
GO:0044794	Process	Host-mediated activation of viral process	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045124	Process	Regulation of bone resorption	ISS
GO:0045217	Process	Cell-cell junction maintenance	IMP	15117969
GO:0046777	Process	Protein autophosphorylation	IDA	20504948
GO:0048513	Process	Animal organ development	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0060603	Process	Mammary gland duct morphogenesis	TAS	15117969
GO:0061098	Process	Positive regulation of protein tyrosine kinase activity	IMP	7681396
GO:0061518	Process	Microglial cell proliferation	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0071345	Process	Cellular response to cytokine stimulus	ISS
GO:0120041	Process	Positive regulation of macrophage proliferation	IGI	26754294
GO:1905521	Process	Regulation of macrophage migration	IEA
GO:1905521	Process	Regulation of macrophage migration	ISS
GO:1990682	Component	CSF1-CSF1R complex	IBA
GO:1990682	Component	CSF1-CSF1R complex	IEA
GO:1990682	Component	CSF1-CSF1R complex	ISS	19017797
GO:2000147	Process	Positive regulation of cell motility	IMP	15117969

Other IDs

• MIM: 164770
• HGNC: 2433
• e!Ensembl: ENSG00000182578

Protein

• UniProt ID: P07333
• Protein name: Macrophage colony-stimulating factor 1 receptor (CSF-1 receptor) (CSF-1-R) (CSF-1R) (M-CSF-R) (EC 2.7.10.1) (Proto-oncogene c-Fms) (CD antigen CD115)
• Protein function: Tyrosine-protein kinase that acts as a cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such
• PDB: 2I0V, 2I0Y, 2I1M, 2OGV, 3BEA, 3DPK, 3KRJ, 3KRL, 3LCD, 3LCO, 4DKD, 4HW7, 4LIQ, 4R7H, 4R7I, 4WRL, 4WRM, 6IG8, 6N33, 6T2W, 6WXJ, 7MFC, 8CGC, 8JOT, 8W1L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00047	ig	207 → 293	Immunoglobulin domain	Domain
  PF13927	Ig_3	397 → 489		Domain
  PF07714	PK_Tyr_Ser-Thr	582 → 910	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in bone marrow and in differentiated blood mononuclear cells.
• Sequence:

  MGPGVLLLLLVATAWHGQGIPVIEPSVPELVVKPGATVTLRCVGNGSVEWDGPPSPHWTL
  YSDGSSSILSTNNATFQNTGTYRCTEPGDPLGGSAAIHLYVKDPARPWNVLAQEVVVFED
  QDALLPCLLTDPVLEAGVSLVRVRGRPLMRHTNYSFSPWHGFTIHRAKFIQSQDYQCSAL
  MGGRKVMSISIRLKVQKVIPGPPALTLVPAELVRIRGEAAQIVCSASSVDVNFDVFLQHN
  NTKLAIPQQSDFHNNRYQKVLTLNLDQVDFQHAGNYSCVASNVQGKHSTSMFFRVVESAY
  LNLSSEQNLIQEVTVGEGLNLKVMVEAYPGLQGFNWTYLGPFSDHQPEPKLANATTKDTY
  RHTFTLSLPRLKPSEAGRYSFLARNPGGWRALTFELTLRYPPEVSVIWTFINGSGTLLCA
  ASGYPQPNVTWLQCSGHTDRCDEAQVLQVWDDPYPEVLSQEPFHKVTVQSLLTVETLEHN
  QTYECRAHNSVGSGSWAFIPISAGAHTHPPDEFLFTPVVVACMSIMALLLLLLLLLLYKY
  KQKPKYQVRWKIIESYEGNSYTFIDPTQLPYNEKWEFPRNNLQFGKTLGAGAFGKVVEAT
  AFGLGKEDAVLKVAVKMLKSTAHADEKEALMSELKIMSHLGQHENIVNLLGACTHGGPVL
  VITEYCCYGDLLNFLRRKAEAMLGPSLSPGQDPEGGVDYKNIHLEKKYVRRDSGFSSQGV
  DTYVEMRPVSTSSNDSFSEQDLDKEDGRPLELRDLLHFSSQVAQGMAFLASKNCIHRDVA
  ARNVLLTNGHVAKIGDFGLARDIMNDSNYIVKGNARLPVKWMAPESIFDCVYTVQSDVWS
  YGILLWEIFSLGLNPYPGILVNSKFYKLVKDGYQMAQPAFAPKNIYSIMQACWALEPTHR
  PTFQQICSFLQEQAQEDRRERDYTNLPSSSRSGGSGSSSSELEEESSSEHLTCCEQGDIA
  QPLLQPNNYQFC

• Sequence length: 972

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
Alzheimer disease	Likely pathogenic	rs1561901881, rs1561905293	RCV000736245 RCV000736246	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brain abnormalities, neurodegeneration, and dysosteosclerosis	Pathogenic; Likely pathogenic	rs1757862455, rs1758310413, rs690016564, rs2481050185, rs1757203198, rs2113778038, rs1757197459, rs281860281, rs917027829, rs1581289103, rs1561913526	RCV001331371 RCV003989027 RCV003989326 RCV003150922 RCV005412541 RCV003995102 RCV004587855 RCV002482936 RCV000785985 RCV000785988 RCV000785989	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CSF1R-related disorder	Likely pathogenic; Pathogenic	rs2113779576, rs690016548, rs281860274, rs1757529135	RCV003401656 RCV003398795 RCV003944835 RCV004751942	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CSF1R-related leukoencephalopathy	Likely pathogenic	rs281860277	RCV005417368	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary diffuse leukoencephalopathy with spheroids	Pathogenic; Likely pathogenic	rs587777245, rs587777246, rs587777247, rs2113779576, rs767475362, rs2113778666, rs780804532, rs690016554, rs690016556, rs690016562, rs690016564, rs690016548, rs281860279, rs281860269, rs281860267, rs281860274, rs387906662, rs281860281, rs917027829, rs1561904557, rs397515556, rs397515557, rs1757529135, rs1757478199, rs1757528753	RCV000106403 RCV000106404 RCV000106405 RCV001724744 RCV001808039 RCV001823037 RCV002249843 RCV000149529 RCV000149532 RCV000149538 RCV000149540 RCV000149530 RCV000149523 RCV000022684 RCV000022685 RCV000022686 RCV000022687 RCV000022688 RCV000031932 RCV001849409 RCV000754617 RCV000055911 RCV000055912 RCV001249332 RCV001257140 RCV001261535	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leukoencephalopathy, diffuse hereditary, with spheroids 1	Likely pathogenic; Pathogenic	rs1403823146, rs2113779576, rs1757422149, rs690016548, rs2480950041, rs1757203198, rs2480936022, rs2113779595, rs281860269, rs281860274, rs281860281, rs1757529135, rs1757528753	RCV003333152 RCV002290740 RCV006257340 RCV004760398 RCV003326726 RCV003321454 RCV003334444 RCV003994624 RCV005252696 RCV004795936 RCV002482936 RCV003152755 RCV003393930	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CSF1R-Related Adult-Onset Leukoencephalopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET CALCIFYING LEUKOENCEPHALOPATHY, SKELETAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET CALCIFYING LEUKOENCEPHALOPATHY-SKELETAL DYSPLASIA	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glioma susceptibility 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
5q-syndrome	5q-syndrome	BEFREE	1613006, 4028159, 9403002		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	9403002		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	9639416		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	17205058, 3030533, 3863666, 7885045		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	1290964, 17360941		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	LHGDN	17360941		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	14654075, 25964636		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	1390197		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	1390197		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	9403002		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	LHGDN	12529666		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	1323928, 22338051		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	20418886		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	3182322, 7965406		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30065206		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17205058		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	8127154		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	26066800		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	25344580		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	31520500, 39374256	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29486463, 30917570, 31182772, 33350588, 36042609, 36189598	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer`s Disease	Alzheimer disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	31191609		★☆☆☆☆ Found in Text Mining only
Anemia, Macrocytic	Anemia	BEFREE	7694008		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30424804		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28373688		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28373688		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	18637807		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	24048900		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	24100919	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	31408010		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	37904379	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	24100919	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28659662, 35304503	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	20574656		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	20574656	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	30541986	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	31468510		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	1557388, 32787365, 35304503, 37810795, 7883962, 8628293, 8985146	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24048900		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	36653368	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	23816250	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	26141825	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	24651014		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	CTD_human_DG	1390197		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	29293000		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	1390197	Associate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	20644169	Associate	★☆☆☆☆ Found in Text Mining only
Bradycardia	Bradycardia	Pubtator	34004232	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	35119108	Associate	★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	28754131		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	28273719		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10602507, 11891846, 14709771, 14767486, 16132573, 1829808, 19151756, 20974809, 22096574, 24498382, 24599884, 30292064, 30696910, 30886344, 7845678, 8981366		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	16618760		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	1390197	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	20974809, 31575382, 32799413, 32847933, 33941620, 34155128	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL Syndrome	CADASIL Syndrome	BEFREE	28921817		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	28824062	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34256095	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	14969845, 22084313		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	15117969, 2663797	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20551429	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25144241, 27486763, 28449811, 30065206		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	9376277	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32173982	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	11092615, 19377443, 36854280, 37515929	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18592004, 9845545	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28099906, 33153411, 33428598	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19177198, 9815777		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	31520500	Associate	★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney complex	Pubtator	36914885	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	40489880	Associate	★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	37407261	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	31520500		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	31520500	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	Pubtator	33350588	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28797614, 29509319		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29228668		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29228668		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	17205058		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	8127154		★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	CTD_human_DG	22197934		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	25344580		★☆☆☆☆ Found in Text Mining only
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	20551429	Stimulate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	1531036, 2973787, 8450649		★☆☆☆☆ Found in Text Mining only
Chromosome 5q Deletion Syndrome	Chromosome 5q deletion syndrome	Pubtator	35732408	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30050466		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29872489		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	28975680		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	29319809, 31029597		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	31093799, 33838643, 34633276, 34652888, 35119108, 36947995, 37434390	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	23451116		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28675510, 32304779, 34256095, 34830445, 38432446, 39317456	Associate	★☆☆☆☆ Found in Text Mining only
Compensatory Hyperinsulinemia	Compensatory Hyperinsulinemia	BEFREE	31573842		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	28383543, 30982609		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	27593106		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	3863666		★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	19327585, 23351989, 9885205		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18592004, 19377443		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30050466		★☆☆☆☆ Found in Text Mining only
Corticobasal Degeneration	Corticobasal degeneration	Pubtator	22197934, 23649896	Associate	★☆☆☆☆ Found in Text Mining only
Crisponi syndrome	Crisponi syndrome	Pubtator	39182279	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	31710624		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28544542, 7945472		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	23649896, 25935893, 30729751, 30917570, 34633276, 35532660, 37407261	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	GENOMICS_ENGLAND_DG	23787135		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	25935893, 28236968, 30729751		★☆☆☆☆ Found in Text Mining only
Dementia of frontal lobe type	Dementia Of Frontal Lobe	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	39374256	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	39217398	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	24428556	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29861805		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29133420		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29133420		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	30988245	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30988245		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	37773794	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	37904379	Associate	★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	BEFREE	1345170		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	26066800		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	25824380		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	31520500	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	18794495, 19487654, 22098561, 22197934, 22843259, 23408870, 23411710, 23649896, 23816250, 24145216, 24336230, 6595937, 8981357		★☆☆☆☆ Found in Text Mining only
Dysosteosclerosis	Dysosteosclerosis	BEFREE	30982609		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	28687081		★☆☆☆☆ Found in Text Mining only
Early-onset calcifying leukoencephalopathy-skeletal dysplasia	Calcifying Leukoencephalopathy-Skeletal Dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eclampsia	Eclampsia	BEFREE	30032672		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	24428556	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	30859497, 31033097		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	30982609		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	9815987		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30816518, 8504987		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	2663797, 30816518, 8605095	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	22365076, 31727934		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	22365076, 38227801	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex Ogna type	Epidermolysis bullosa	Pubtator	28675510	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30177815, 31179602		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	19177198, 9815777		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	22096574		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	17694551		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	31783006		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	19921253		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	33737586	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastritis	Gastritis	Pubtator	37904379	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	25085632		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Tendon Sheath	Giant cell tumor of tendon sheath	Pubtator	26222558, 27041409, 35443852, 36502356	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23744080, 28759044, 7514661		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32687679, 34562087	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23744080, 28759044, 7514661		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22313638, 23577178, 30361508		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23577178, 35985661	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	34861820, 36978098	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	37876929	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30737483		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	30405534		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22197934, 37407261	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	CLINVAR_DG	18971950, 2406720		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	7519507		★☆☆☆☆ Found in Text Mining only
Hemiplegia	Hemiplegia	Pubtator	24930661	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	31149782		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	15637141	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia	Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Leukoencephalopathy with Spheroids	Hereditary Diffuse Leukoencephalopathy With Spheroids	BEFREE	22197934, 22843259, 23038421, 23408870, 23649896, 23698128, 23787135, 24145216, 24198292, 24336230, 24428556, 24532199, 25239393, 25311247, 25383640, 25563800, 26141825, 26401554, 27190017, 27423618, 27490250, 27619214, 27680516, 27749956, 28025469, 28921817, 29122458, 30136118, 30729751, 30901701, 30968732, 30982608, 30982609, 31093799, 31191609, 31520500, 31632577, 31775912, 31827782		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Diffuse Leukoencephalopathy with Spheroids	Hereditary Diffuse Leukoencephalopathy With Spheroids	ORPHANET_DG	22197934		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Diffuse Leukoencephalopathy with Spheroids	Hereditary Diffuse Leukoencephalopathy With Spheroids	UNIPROT_DG	22197934, 24532199		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Diffuse Leukoencephalopathy with Spheroids	Hereditary Diffuse Leukoencephalopathy With Spheroids	CLINVAR_DG	23411710, 23649896, 23816250, 24034409, 24094860, 24198292, 24336230, 24532199, 2470618, 25012610, 25311247, 26633545		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Diffuse Leukoencephalopathy with Spheroids	Hereditary Diffuse Leukoencephalopathy With Spheroids	GENOMICS_ENGLAND_DG	24357685		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Diffuse Leukoencephalopathy with Spheroids	Hereditary Diffuse Leukoencephalopathy With Spheroids	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Hyperexplexia	Hyperekplexia	BEFREE	1334371		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	23527089	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytosis	Histiocytosis	BEFREE	31768065		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	22955918, 30546079	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	31848580		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	8463412		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	8463412	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	31093799		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	31093799	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperekplexia	Hyperekplexia	Pubtator	7763205	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	8781300		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29665011		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31093799, 31145859		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27898738		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	27898738	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	29930294		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	30326776		★☆☆☆☆ Found in Text Mining only
Intracranial Embolism	Intracranial embolism	Pubtator	29509319	Associate	★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	20436485		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	19377443		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	20418886, 30974389, 3476856, 3525854		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	2832442, 2910363, 2970873	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	1531307, 1829836, 2465043	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	1825181, 22399609, 26375984, 2832442, 2910363, 2970873, 30425048, 33560403, 34568834, 36914885, 39251712	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	31028249	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12031912, 12130514		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	1390197		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	14654075, 14738146, 16281072, 17361223, 17960171, 1825181, 18971950, 19327585, 20418886, 21114537, 2142747, 21767516, 22318449, 22605576, 22614177, 22934770, 23497456, 2406720, 24200998, 2465043, 25534203, 25640477, 25697362, 25964636, 26462154, 2653488, 2970873, 30425048, 31186273, 31217189, 31751472, 7769831, 7885045, 7950916, 8127154, 8528742, 9403002, 9694696, 9885205		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	23038421, 24128683, 25935893, 25975230, 31330095		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	23649896, 25935893, 25975230, 34633276, 37434390	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	CTD_human_DG	22197934		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	23038421, 24128683, 24532199, 25012610, 28921817, 29749055, 30968732, 30982608, 31520500, 31775912, 31827782		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	30968732		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	8317916		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14969845, 20551429, 28572167, 29391887		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	29857241		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	1390197	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25144241	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	27570219		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	26066800, 3030533		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	1613006, 20436485, 26066800, 7769831		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	28784769, 30541986	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	30940906		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10602507, 11891846, 14709771, 14767486, 15289345, 16132573, 19151756, 20974809, 21063905, 22096574, 24498382, 24599884, 30292064, 30696910, 30886344		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	16618760		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30816518, 8504987		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25144241, 27486763, 28449811, 30065206		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30424804		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12381783, 19522014, 27539855, 31069149		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29767252		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	23372702		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CTD_human_DG	1390197		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	1613006, 18694641, 22084313, 22434539, 23493555, 24722292, 27245147, 28377059, 28469954, 28716061, 28724665, 28784769, 29107425, 29218239, 29323162, 29459144, 29679908, 29767252, 30075184, 31438996, 31809612		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	19921253		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29228668		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24448357		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	16618760		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	16618760		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18814279		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	16618760		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	30940906		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	28675510		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	24828813	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	25344580		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	25344580	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	1390197	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	29436395, 29643229, 30046005		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory Disorders	Memory disorders	Pubtator	26141825	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29861805		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27875416		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	24722292, 28536100		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	24722292	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	24722292, 32581053	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	27091721	Inhibit	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	29544907		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	38227801	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	18794495, 19487654, 22098561, 22197934, 22843259, 23408870, 23411710, 23649896, 23816250, 24145216, 24336230, 6595937, 8981357		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	18794495, 19487654, 22098561, 22197934, 22843259, 23408870, 23411710, 23649896, 23816250, 24145216, 24336230, 6595937, 8981357		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28626216, 30732646		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	30732646	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	12237849, 29290406, 29803827		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33766068, 37407261	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	25311247	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	1829836, 7694008, 9639416		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	16631474, 1829836, 18637807, 2142747, 7694008, 7769831, 7858491, 7885045, 8528742, 9403002, 9639416		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CGI_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndrome with Isolated del(5q)	Myelodysplastic syndrome	BEFREE	1613006, 4028159, 9403002		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	1384791		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	CLINVAR_DG	18971950		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28383543		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	36466903	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	22267178, 30061942		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26743272	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10602507, 10748299, 1334964, 14709771, 1535551, 16132573, 16357167, 19608274, 19921253, 22957741, 24451080, 24619759, 25241894, 27197230, 28469954, 28536100, 28572167, 28724665, 28951423, 29136508, 29218239, 29228548, 29372560, 29440290, 29665011, 29679908, 29872489, 29875321, 29968849, 30046005, 30065206, 30149762, 3030533, 30424804, 30527756, 30546079, 30696910, 30859335, 31069149, 31444606, 31704343, 7965406, 8585955, 8981366, 9116300, 9209363, 9815777, 9815987		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CTD_human_DG	1390197		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	25311247, 27875416, 30565754, 31798586		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	1829836	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29665011		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	31182772, 35119108, 35752680, 36947995, 39182279	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25012610, 30729751, 30982609, 31504240		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28449811, 29218239		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25270054, 28683285		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	33021861, 37904379	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	30982609, 31330095		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31373168		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	28383543		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	16973889, 30142160, 31054506		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	33021861, 36430397, 37904379	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28469954		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35340229	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	30853829		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22909061, 9376277	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30424804		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28099906	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33062039	Stimulate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	23372702		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	23649896	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	23787135, 25556233	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31554150		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	37108258	Stimulate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	23787135, 31520500, 35503975	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	35887121	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Partial Trisomy	Trisomy	BEFREE	1606715		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31373168		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	26401554		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	26401554		★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pleural Diseases	Pleural diseases	Pubtator	36161776	Associate	★☆☆☆☆ Found in Text Mining only
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy	BEFREE	27859676		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	29296813, 3030533		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	29296813		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	3030533		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	30853829		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	25935893, 30729751		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	12580961		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12381783, 19522014, 27539855, 31069149		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18510570		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26887047	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Pulmonary alveolar proteinosis	Pubtator	12896880	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29496785, 30540913		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	9403002		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19377443		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	9694696		★☆☆☆☆ Found in Text Mining only
Retinal Vein Occlusion	Retinal Vein Occlusion	BEFREE	31652020		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27084907, 28659662, 30281780, 31054506		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	2171188, 22434539, 8317916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	30630651	Inhibit	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	27875416		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31093799, 37407261, 37434390	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	34004232	Associate	★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	30982609, 31330095		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	28687081		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	2824028		★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	28545543		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	26141825	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28915554, 9935235		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31179602, 31796682		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29767252		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38425243	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	23649896, 29509319	Associate	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	17527089		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	29085032, 31636099		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	31504240		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	16407111, 17527089, 30594158		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	36502356	Associate	★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	24722292		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	23372702		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	23372702		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27472710	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36110252	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis Central Nervous System	Vasculitis	Pubtator	25935893	Associate	★☆☆☆☆ Found in Text Mining only
Visceral Myopathy	Visceral Myopathy	BEFREE	28383543		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	37434390	Associate	★☆☆☆☆ Found in Text Mining only