CYP24A1 (cytochrome P450 family 24 subfamily A member 1)

Gene

• Entrez ID: 1591
• Gene name: Cytochrome P450 family 24 subfamily A member 1
• Gene symbol: CYP24A1
• Synonyms (NCBI Gene): CP24, CYP24, HCAI, HCINF1, P450-CC24
• Chromosome: 20
• Chromosome location: 20q13.2
• Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6068812	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs35051736	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs35873579	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, synonymous variant
rs114368325	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs139763321	A>G	Pathogenic	Coding sequence variant, missense variant
rs387907322	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs387907323	C>A	Pathogenic	Coding sequence variant, stop gained
rs387907324	C>T	Pathogenic	Coding sequence variant, missense variant
rs774432244	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs777676129	CTT>-	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion
rs777947329	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs781367354	C>A,T	Likely-pathogenic	Missense variant, initiator codon variant
rs876657376	AG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004408	hsa-miR-125b-5p	qRT-PCR, Luciferase reporter assay, Western blot, Northern blot	19570947
MIRT004408	hsa-miR-125b-5p	Review	20026422
MIRT004408	hsa-miR-125b-5p	Reporter assay	19570947
MIRT024646	hsa-miR-215-5p	Microarray	19074876
MIRT026473	hsa-miR-192-5p	Microarray	19074876
MIRT029534	hsa-miR-26b-5p	Microarray	19088304
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT638072	hsa-miR-636	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT638071	hsa-miR-3977	HITS-CLIP	23824327
MIRT638070	hsa-miR-218-5p	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT638072	hsa-miR-636	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT638071	hsa-miR-3977	HITS-CLIP	23824327
MIRT638070	hsa-miR-218-5p	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT755562	miR-21	qRT-PCR	35807864
MIRT921010	hsa-miR-1207-5p	CLIP-seq
MIRT921011	hsa-miR-125a-3p	CLIP-seq
MIRT921012	hsa-miR-1827	CLIP-seq
MIRT921013	hsa-miR-218	CLIP-seq
MIRT921014	hsa-miR-2682	CLIP-seq
MIRT921015	hsa-miR-2861	CLIP-seq
MIRT921016	hsa-miR-30a	CLIP-seq
MIRT921017	hsa-miR-30b	CLIP-seq
MIRT921018	hsa-miR-30c	CLIP-seq
MIRT921019	hsa-miR-30d	CLIP-seq
MIRT921020	hsa-miR-30e	CLIP-seq
MIRT921021	hsa-miR-3189-5p	CLIP-seq
MIRT921022	hsa-miR-3616-5p	CLIP-seq
MIRT921023	hsa-miR-3647-5p	CLIP-seq
MIRT921024	hsa-miR-365	CLIP-seq
MIRT921025	hsa-miR-3907	CLIP-seq
MIRT921026	hsa-miR-3909	CLIP-seq
MIRT921027	hsa-miR-3918	CLIP-seq
MIRT921028	hsa-miR-3974	CLIP-seq
MIRT921029	hsa-miR-4477b	CLIP-seq
MIRT921030	hsa-miR-449c	CLIP-seq
MIRT921031	hsa-miR-4512	CLIP-seq
MIRT921032	hsa-miR-4536	CLIP-seq
MIRT921033	hsa-miR-4652-3p	CLIP-seq
MIRT921034	hsa-miR-4729	CLIP-seq
MIRT921035	hsa-miR-4731-3p	CLIP-seq
MIRT921036	hsa-miR-4758-3p	CLIP-seq
MIRT921037	hsa-miR-4763-3p	CLIP-seq
MIRT921038	hsa-miR-4795-5p	CLIP-seq
MIRT921039	hsa-miR-4801	CLIP-seq
MIRT921040	hsa-miR-495	CLIP-seq
MIRT921041	hsa-miR-501-3p	CLIP-seq
MIRT921042	hsa-miR-502-3p	CLIP-seq
MIRT921043	hsa-miR-552	CLIP-seq
MIRT921044	hsa-miR-553	CLIP-seq
MIRT921045	hsa-miR-573	CLIP-seq
MIRT921046	hsa-miR-586	CLIP-seq
MIRT921047	hsa-miR-590-3p	CLIP-seq
MIRT921048	hsa-miR-628-5p	CLIP-seq
MIRT921049	hsa-miR-642b	CLIP-seq
MIRT921050	hsa-miR-940	CLIP-seq
MIRT921051	hsa-miR-1202	CLIP-seq
MIRT921010	hsa-miR-1207-5p	CLIP-seq
MIRT921052	hsa-miR-204	CLIP-seq
MIRT921053	hsa-miR-211	CLIP-seq
MIRT921014	hsa-miR-2682	CLIP-seq
MIRT921015	hsa-miR-2861	CLIP-seq
MIRT921021	hsa-miR-3189-5p	CLIP-seq
MIRT921054	hsa-miR-3194-5p	CLIP-seq
MIRT921055	hsa-miR-34b	CLIP-seq
MIRT921056	hsa-miR-34c-3p	CLIP-seq
MIRT921024	hsa-miR-365	CLIP-seq
MIRT921026	hsa-miR-3909	CLIP-seq
MIRT921027	hsa-miR-3918	CLIP-seq
MIRT921057	hsa-miR-3972	CLIP-seq
MIRT921028	hsa-miR-3974	CLIP-seq
MIRT921058	hsa-miR-4287	CLIP-seq
MIRT921029	hsa-miR-4477b	CLIP-seq
MIRT921030	hsa-miR-449c	CLIP-seq
MIRT921031	hsa-miR-4512	CLIP-seq
MIRT921032	hsa-miR-4536	CLIP-seq
MIRT921059	hsa-miR-4685-3p	CLIP-seq
MIRT921036	hsa-miR-4758-3p	CLIP-seq
MIRT921037	hsa-miR-4763-3p	CLIP-seq
MIRT921040	hsa-miR-495	CLIP-seq
MIRT921044	hsa-miR-553	CLIP-seq
MIRT921047	hsa-miR-590-3p	CLIP-seq
MIRT921050	hsa-miR-940	CLIP-seq
MIRT921010	hsa-miR-1207-5p	CLIP-seq
MIRT1972904	hsa-miR-199a-3p	CLIP-seq
MIRT1972905	hsa-miR-199b-3p	CLIP-seq
MIRT921014	hsa-miR-2682	CLIP-seq
MIRT921015	hsa-miR-2861	CLIP-seq
MIRT1972906	hsa-miR-3129-5p	CLIP-seq
MIRT921027	hsa-miR-3918	CLIP-seq
MIRT921030	hsa-miR-449c	CLIP-seq
MIRT921031	hsa-miR-4512	CLIP-seq
MIRT921032	hsa-miR-4536	CLIP-seq
MIRT921037	hsa-miR-4763-3p	CLIP-seq
MIRT921044	hsa-miR-553	CLIP-seq
MIRT921050	hsa-miR-940	CLIP-seq
MIRT2208540	hsa-miR-4789-3p	CLIP-seq
MIRT2208541	hsa-miR-602	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
VDR	Activation	23463632
VDR	Repression	9687155
VDR	Unknown	19244278;19429444;21763285

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	IEP	17023519
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006066	Process	Alcohol metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006766	Process	Vitamin metabolic process	TAS
GO:0008403	Function	25-hydroxycholecalciferol-24-hydroxylase activity	IBA
GO:0008403	Function	25-hydroxycholecalciferol-24-hydroxylase activity	IDA	8679605, 24893882
GO:0008403	Function	25-hydroxycholecalciferol-24-hydroxylase activity	IEA
GO:0008610	Process	Lipid biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0020037	Function	Heme binding	IEA
GO:0020037	Function	Heme binding	TAS	8506296
GO:0030342	Function	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	IBA
GO:0030342	Function	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	IDA	8506296, 8679605, 16617161, 24893882
GO:0030342	Function	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	IEA
GO:0030342	Function	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	TAS
GO:0030343	Function	Vitamin D3 25-hydroxylase activity	IDA	25727742
GO:0030343	Function	Vitamin D3 25-hydroxylase activity	IEA
GO:0033280	Process	Response to vitamin D	IBA
GO:0033280	Process	Response to vitamin D	IDA	16720713
GO:0036378	Process	Calcitriol biosynthetic process from calciol	IEA
GO:0042359	Process	Vitamin D metabolic process	IEA
GO:0042359	Process	Vitamin D metabolic process	IEA
GO:0042359	Process	Vitamin D metabolic process	TAS
GO:0042369	Process	Vitamin D catabolic process	IBA
GO:0042369	Process	Vitamin D catabolic process	IDA	8506296, 8679605, 16617161, 24893882, 29461981
GO:0042369	Process	Vitamin D catabolic process	IEA
GO:0042369	Process	Vitamin D catabolic process	NAS	16720713
GO:0044283	Process	Small molecule biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0062180	Function	25-hydroxycholecalciferol-23-hydroxylase activity	IDA	8679605, 11012668, 24893882
GO:0062180	Function	25-hydroxycholecalciferol-23-hydroxylase activity	IEA
GO:0062181	Function	1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity	IDA	16617161, 24893882, 29461981
GO:0062181	Function	1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity	IEA
GO:0070561	Process	Vitamin D receptor signaling pathway	NAS	16720713
GO:0070576	Function	Vitamin D 24-hydroxylase activity	IEA
GO:0071305	Process	Cellular response to vitamin D	IEA

Other IDs

• MIM: 126065
• HGNC: 2602
• e!Ensembl: ENSG00000019186

Protein

• UniProt ID: Q07973
• Protein name: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial (24-OHase) (Vitamin D(3) 24-hydroxylase) (EC 1.14.15.16) (Cytochrome P450 24A1) (Cytochrome P450-CC24)
• Protein function: A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D(3)) and the active ho
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	58 → 512	Cytochrome P450	Domain

• Sequence:

  MSSPISKSRSLAAFLQQLRSPRQPPRLVTSTAYTSPQPREVPVCPLTAGGETQNAAALPG
  PTSWPLLGSLLQILWKGGLKKQHDTLVEYHKKYGKIFRMKLGSFESVHLGSPCLLEALYR
  TESAYPQRLEIKPWKAYRDYRKEGYGLLILEGEDWQRVRSAFQKKLMKPGEVMKLDNKIN
  EVLADFMGRIDELCDERGHVEDLYSELNKWSFESICLVLYEKRFGLLQKNAGDEAVNFIM
  AIKTMMSTFGRMMVTPVELHKSLNTKVWQDHTLAWDTIFKSVKACIDNRLEKYSQQPSAD
  FLCDIYHQNRLSKKELYAAVTELQLAAVETTANSLMWILYNLSRNPQVQQKLLKEIQSVL
  PENQVPRAEDLRNMPYLKACLKESMRLTPSVPFTTRTLDKATVLGEYALPKGTVLMLNTQ
  VLGSSEDNFEDSSQFRPERWLQEKEKINPFAHLPFGVGKRMCIGRRLAELQLHLALCWIV
  RKYDIQATDNEPVEMLHSGTLVPSRELPIAFCQR

• Sequence length: 514

Pathways

KEGG:

Steroid biosynthesis
Metabolic pathways
Parathyroid hormone synthesis, secretion and action
MicroRNAs in cancer

Reactome:

Vitamin D (calciferol) metabolism
Vitamins
Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)

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
CYP24A1-related disorder	Likely pathogenic; Pathogenic	rs777011420, rs2516345389, rs6068812, rs139763321	RCV004756331 RCV003393239 RCV003894819 RCV004756031	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercalcemia, infantile, 1	Pathogenic; Likely pathogenic	rs770055617, rs988715134, rs2146489987, rs777011420, rs2516403268, rs1299109745, rs777947329, rs774967736, rs762334108, rs751526033, rs2516404261, rs2092633467, rs2516376283, rs2516405173, rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs139763321, rs774432244, rs781367354, rs202070065, rs143934667	RCV005419288 RCV001780349 RCV001780908 RCV003992590 RCV002510418 RCV004594653 RCV000190576 RCV003237305 RCV003237314 RCV005030202 RCV004546871 RCV004555334 RCV004555481 RCV004555488 RCV000022526 RCV000033205 RCV000022527 RCV000033209 RCV000022528 RCV000033210 RCV000033211 RCV000778636 RCV000779350 RCV000856569 RCV005029768 RCV001280863	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscle spasm	Likely pathogenic; Pathogenic	rs114368325	RCV000414890	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubulopathies	Likely pathogenic; Pathogenic	rs1170841548	RCV006250227	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC ECZEMA	—	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	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCULUS OF KIDNEY AND URETER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCEMIA, INFANTILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCIURIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infantile hypercalcemia	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETEROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	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	29165303		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	27105398		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	16081282, 19901270		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21169243, 23026510, 24736069, 27793774		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	26241700		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	19901270, 26241700		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	BEFREE	21115105		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	22155603		★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	22739976		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	22511602		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	24184224		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34925313	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	31744213		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	16600026, 19852851, 21613960, 27026514		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	16600026, 19852851, 21613960, 36839181	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24184224, 28601511		★☆☆☆☆ Found in Text Mining only
Autosomal recessive infantile hypercalcemia	Hypercalcemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	24184224		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	22337913		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	22337913	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11242591, 14760115, 15225766, 19570947, 19667160, 20440542, 21828234, 22480149, 22649517, 22984610, 23393347, 23869778, 25421379, 26488576, 27600601, 27922682, 30654105, 31215377, 31548577, 31696340		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	16280049		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	14760115, 15863722, 16280049, 19667160, 20440542, 22480149, 22649517, 23393347, 25421379, 25736056, 31548577, 34003583	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	24416388	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcinosis	Calcinosis	Pubtator	33219692	Associate	★☆☆☆☆ Found in Text Mining only
Calcium Metabolism Disorders	Calcium Metabolism Disorders	CLINVAR_DG	21675912, 22047571		★☆☆☆☆ Found in Text Mining only
Calcium Metabolism Disorders	Calcium metabolism disorders	Pubtator	25165186	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19901270, 23423976, 23674869, 28821819	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10385427, 11467853, 20831823		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	15077124, 34003583	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20345479	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16708384, 18508622, 21169243, 22386975, 22797725, 27793774, 29250167, 29726119, 30724597, 31264381		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25090635	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28211524	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	15077124, 29165303		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	33219692	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	31872978	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	25090635		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	23375797		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	24235083		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	21610497, 22100522, 24235083, 26567049, 28109821, 29658431		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	28811712	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11467853, 16180015, 19706847, 21801808		★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	28811712	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20398751, 22940288, 23463632, 23674869, 24562971, 26260259, 26766742, 26997443, 28009432, 28665452, 28821819, 30052060, 30387187		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19706847, 21084270, 22940288, 23423976, 23463632, 23674869, 24562971, 28009432, 28665452, 28811712, 28821819, 31963716, 34191826, 37414755	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37750623	Stimulate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24245571		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	32762692	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	27618536		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	26315479	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	23042114, 26315479		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23119081		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23119081		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	32764491	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29358755, 32542627	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	16753019, 17223345, 17606874, 24325596, 25448747		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	23119081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	22511602, 22690899		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31638226		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	23042114, 26315479		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	27769055		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	24732451, 27769055	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	14760115		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	14760115		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	14760115		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	14760115	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	31102703		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	31102703	Associate	★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	16753019, 26784541		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	22690899		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	35114859	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	23965431	Inhibit	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	16886688	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	11909970, 22112808, 22337913, 25375986, 26097993, 27105398, 28324001, 28470390, 28874334, 31288237, 33856702, 34662328, 34721296, 35282483, 36625425, 37358380	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia	Hypercalcemia	BEFREE	21675912, 22112808, 22337913, 23001465, 23768816, 24235083, 24572979, 25305753, 25375986, 25446019, 26097993, 26214117, 26304832, 26585929, 26596315, 26681795, 27060335, 27105398, 27129455, 27394135, 27588937, 27639704, 28093352, 28324001, 28437713, 28874334, 29080636, 30423445, 30470867, 31188746, 31288237		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia	Hypercalcemia	CTD_human_DG	22337913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia Infantile	Idiopathic infantile hypercalcemia	Pubtator	22112808, 28304097, 28324001, 28470390, 28874334, 33864587, 34125233, 34217267, 34721296, 35282483, 36625425, 40428323	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia, Idiopathic, of Infancy	Hypercalcemia	ORPHANET_DG	21675912		★☆☆☆☆ Found in Text Mining only
Hypercalcemia, Infantile, 1	Hypercalcemia	ORPHANET_DG	21675912		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercalcemia, Infantile, 1	Hypercalcemia	CLINVAR_DG	21675912, 22047572, 22112808, 23001465, 23293122, 23470222, 23485543, 24423361, 24518185, 24875559, 25194629, 25446019, 26097993, 26117226, 26214117, 26304832, 26787776, 27394135, 28109821		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercalcemia, Infantile, 1	Hypercalcemia	UNIPROT_DG	21675912		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercalcemia, Infantile, 1	Hypercalcemia	GENOMICS_ENGLAND_DG	22047572, 29903433		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercalcemia, Infantile, 1	Hypercalcemia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercalcemia, infantile, 2	Hypercalcemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypercalciuria	Hypercalciuria	Pubtator	22337913, 23293122, 28324001, 28470390, 31288237, 34125233, 34721296, 35282483, 36625425	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	25446887, 28716761		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	29667913		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	31872978, 31918428	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30192652		★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	26784541		★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	16753019		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29528271		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	23293122, 23470222, 24235083, 25375986, 26585929, 27394135, 27639704, 28093352, 29574006, 31288237, 31729369		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	21610497, 26214117, 26567049		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	34721296	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	CTD_human_DG	8164439		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic	Kidney failure	Pubtator	27605961, 33099630	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	24235083		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	38567579	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	29165303		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	35563410	Associate	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	22612324		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22984610, 23155244		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	22984610		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	16180015, 16708384, 22285938, 27793774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	16708384		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	22386975, 22797725, 25415319, 25519225, 29726119, 31264381	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	22797725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	32165494	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27283331	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27283331		★☆☆☆☆ Found in Text Mining only
Lymphadenitis	Lymphadenitis	BEFREE	31638226		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22511602	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	35563410	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	22544453		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14760115, 15225766, 19570947, 19667160, 20440542, 21828234, 22480149, 22649517, 22984610, 23393347, 23869778, 25421379, 26488576, 27600601, 27922682, 30654105, 31215377, 31548577, 31696340		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	16280049		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	27769055		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	14760115		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16708384, 18508622, 21169243, 22386975, 22797725, 27793774, 29250167, 29726119, 30724597, 31264381		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	22797725		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	22612324		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23826131, 25799011		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12270218, 17368180, 17932346, 19255064, 19400699, 19505920, 20587525, 20687218, 22940288, 23358686, 24081904, 24492489, 24926821		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	29165303		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	24382015, 30233662		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16886669, 17213017, 19570947, 20184548, 25201000, 28362172, 28579119, 28601511, 29254801, 31548577, 31740231		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11467853, 16180015, 19706847, 21801808		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	16280049		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	16280049		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	17121927		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	16280049		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	25334067		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15225766, 15225804, 22576141, 25334067, 28676457, 31235702		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	17172823, 22576141, 25334067, 30200275, 31235702, 39456696	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31660975		★☆☆☆☆ Found in Text Mining only
Milk-Alkali Syndrome	Milk-Alkali Syndrome	CTD_human_DG	22337913		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	18539642		★☆☆☆☆ Found in Text Mining only
Multinodular goiter	Multinodular goiter	BEFREE	24382015		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	19729047		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20007432, 21440908, 23334593, 25542806, 26446064, 26466946, 27966076, 28836398, 30088172		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	25526461, 34163021, 34855907, 36823318	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	28836398		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	25334067	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15225766, 16708384, 20184548, 20304059, 21725204, 22285938, 23463632, 24081904, 25201000, 25544771, 27639478, 27793774, 27922682		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	CLINVAR_DG	21675912, 22047571		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	23293122, 23470222, 24235083, 25446019, 26117226, 26304832, 27105398, 27394135, 27588937, 27639704, 29080636, 29574006, 30470867, 31789978		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	CTD_human_DG	22337913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis	Nephrolithiasis	Pubtator	22337913, 23293122, 25375986, 27105398, 31288237, 35282483	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis	Nephrolithiasis	BEFREE	23293122, 23470222, 24235083, 25375986, 26585929, 27394135, 27639704, 28093352, 29574006, 31288237, 31729369		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16708384, 23026510, 25544771, 27669215		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23381556		★☆☆☆☆ Found in Text Mining only
Osteomalacia	Osteomalacia	BEFREE	21115105		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	CTD_human_DG	22337913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	22337913		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	22337913		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23826131, 25799011		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23826131, 25799011	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23826131	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	27105398	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	25090635		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	22690899, 24382015, 25201000, 28242615, 28589382		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	22337913		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12270218, 17368180, 17932346, 19255064, 19400699, 19505920, 20587525, 20687218, 22940288, 23358686, 24081904, 24492489, 24926821		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic disease	Pubtator	20587525	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	15860259, 21725204		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19667147, 20687218	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20587525	Inhibit	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	26784541, 27573000		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24245571		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	CTD_human_DG	8164439		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	29080636		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	31638226	Stimulate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	28211524	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	25415319	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	19706847	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30875566		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28362172		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	31872978	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	22511602	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	22690899	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	24382015, 30233662		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	22511602	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	22511602		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	24382015, 30233662		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	20860424, 22690899	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	22511602	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25667460		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	31746073		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	31235702	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	24184224		★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	24184224		★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	27716192	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	33219692	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	30142216	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	23877860, 27283331, 27669215, 28470390, 29358755, 30286109, 34662328, 35684156	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	28304097, 29153269, 30286109, 31804956		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	33856702	Associate	★☆☆☆☆ Found in Text Mining only