CYP27B1 (cytochrome P450 family 27 subfamily B member 1)

Gene

• Entrez ID: 1594
• Gene name: Cytochrome P450 family 27 subfamily B member 1
• Gene symbol: CYP27B1
• Synonyms (NCBI Gene): CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR
• Chromosome: 12
• Chromosome location: 12q14.1
• 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. The protein encode

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28934604	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs28934605	C>T	Pathogenic	Missense variant, coding sequence variant
rs28934606	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs28934607	G>A	Pathogenic	Missense variant, coding sequence variant
rs118204007	G>C	Pathogenic	Coding sequence variant, missense variant
rs118204008	G>A	Pathogenic	Coding sequence variant, missense variant
rs118204009	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs118204010	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs118204011	G>A	Pathogenic	Coding sequence variant, missense variant
rs118204012	T>C	Pathogenic	Coding sequence variant, missense variant
rs387906258	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906259	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906260	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs555068245	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs568165874	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs759208930	C>T	Pathogenic	Missense variant, coding sequence variant
rs761780097	C>G,T	Pathogenic	Splice donor variant
rs763437121	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs767480544	G>A	Pathogenic	Coding sequence variant, missense variant
rs770204470	C>T	Pathogenic	Splice donor variant
rs780950819	->GGGTGGG	Pathogenic	Frameshift variant, coding sequence variant
rs1057520815	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555202494	C>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029947	hsa-miR-26b-5p	Microarray	19088304
MIRT051080	hsa-miR-16-5p	CLASH	23622248
MIRT049861	hsa-miR-31-5p	CLASH	23622248
MIRT711962	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT711961	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT711960	hsa-miR-5681a	HITS-CLIP	19536157
MIRT711959	hsa-miR-4290	HITS-CLIP	19536157
MIRT711958	hsa-miR-6882-3p	HITS-CLIP	19536157
MIRT711957	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT711956	hsa-miR-4471	HITS-CLIP	19536157
MIRT711955	hsa-miR-8059	HITS-CLIP	19536157
MIRT711954	hsa-miR-6894-3p	HITS-CLIP	19536157
MIRT711962	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT711961	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT711960	hsa-miR-5681a	HITS-CLIP	19536157
MIRT711959	hsa-miR-4290	HITS-CLIP	19536157
MIRT711958	hsa-miR-6882-3p	HITS-CLIP	19536157
MIRT711957	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT711956	hsa-miR-4471	HITS-CLIP	19536157
MIRT711955	hsa-miR-8059	HITS-CLIP	19536157
MIRT711954	hsa-miR-6894-3p	HITS-CLIP	19536157
MIRT711962	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT711961	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT711960	hsa-miR-5681a	HITS-CLIP	19536157
MIRT711959	hsa-miR-4290	HITS-CLIP	19536157
MIRT711958	hsa-miR-6882-3p	HITS-CLIP	19536157
MIRT711957	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT711956	hsa-miR-4471	HITS-CLIP	19536157
MIRT711955	hsa-miR-8059	HITS-CLIP	19536157
MIRT711954	hsa-miR-6894-3p	HITS-CLIP	19536157
MIRT711962	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT711961	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT711960	hsa-miR-5681a	HITS-CLIP	19536157
MIRT711959	hsa-miR-4290	HITS-CLIP	19536157
MIRT711958	hsa-miR-6882-3p	HITS-CLIP	19536157
MIRT711957	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT711956	hsa-miR-4471	HITS-CLIP	19536157
MIRT711955	hsa-miR-8059	HITS-CLIP	19536157
MIRT711954	hsa-miR-6894-3p	HITS-CLIP	19536157
MIRT921207	hsa-miR-133a	CLIP-seq
MIRT921208	hsa-miR-133b	CLIP-seq
MIRT921209	hsa-miR-146a	CLIP-seq
MIRT921210	hsa-miR-146b-5p	CLIP-seq
MIRT921211	hsa-miR-3675-5p	CLIP-seq
MIRT921212	hsa-miR-4251	CLIP-seq
MIRT921213	hsa-miR-4278	CLIP-seq
MIRT921214	hsa-miR-4324	CLIP-seq
MIRT921215	hsa-miR-486-3p	CLIP-seq
MIRT921216	hsa-miR-589	CLIP-seq
MIRT1972958	hsa-miR-1207-5p	CLIP-seq
MIRT1972959	hsa-miR-3144-3p	CLIP-seq
MIRT1972960	hsa-miR-3171	CLIP-seq
MIRT1972961	hsa-miR-3200-3p	CLIP-seq
MIRT1972962	hsa-miR-4763-3p	CLIP-seq
MIRT1972963	hsa-miR-875-5p	CLIP-seq
MIRT1972964	hsa-miR-935	CLIP-seq
MIRT2208551	hsa-miR-103a	CLIP-seq
MIRT2208552	hsa-miR-107	CLIP-seq
MIRT2208553	hsa-miR-15a	CLIP-seq
MIRT2208554	hsa-miR-15b	CLIP-seq
MIRT2208555	hsa-miR-16	CLIP-seq
MIRT2208556	hsa-miR-195	CLIP-seq
MIRT2208557	hsa-miR-424	CLIP-seq
MIRT2208558	hsa-miR-4530	CLIP-seq
MIRT2208559	hsa-miR-4662a-5p	CLIP-seq
MIRT2208560	hsa-miR-4676-5p	CLIP-seq
MIRT2208561	hsa-miR-497	CLIP-seq
MIRT2208562	hsa-miR-575	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GFI1	Repression	15947108;17207994
NFKB1	Unknown	19928584
RELA	Unknown	19928584

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004498	Function	Calcidiol 1-monooxygenase activity	IBA
GO:0004498	Function	Calcidiol 1-monooxygenase activity	IDA	9415400, 15795327, 16549446, 17023519, 22862690
GO:0004498	Function	Calcidiol 1-monooxygenase activity	IEA
GO:0004498	Function	Calcidiol 1-monooxygenase activity	TAS
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IDA	15589699, 16720713
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005739	Component	Mitochondrion	TAS	9333115
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0006066	Process	Alcohol metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006766	Process	Vitamin metabolic process	TAS
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	ISS
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	16549446
GO:0008610	Process	Lipid biosynthetic process	IEA
GO:0016020	Component	Membrane	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:0030282	Process	Bone mineralization	IEP	17023519
GO:0030308	Process	Negative regulation of cell growth	IMP	12496369
GO:0030500	Process	Regulation of bone mineralization	IMP	9415400
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032496	Process	Response to lipopolysaccharide	IDA	12855575
GO:0033280	Process	Response to vitamin D	IBA
GO:0033280	Process	Response to vitamin D	IDA	16549446
GO:0034341	Process	Response to type II interferon	IDA	9282826
GO:0036378	Process	Calcitriol biosynthetic process from calciol	IBA
GO:0036378	Process	Calcitriol biosynthetic process from calciol	IDA	9415400, 15795327, 16549446, 17023519, 22862690
GO:0036378	Process	Calcitriol biosynthetic process from calciol	IEA
GO:0042359	Process	Vitamin D metabolic process	IDA	9415400
GO:0042359	Process	Vitamin D metabolic process	IEA
GO:0042359	Process	Vitamin D metabolic process	TAS
GO:0042368	Process	Vitamin D biosynthetic process	IEA
GO:0042369	Process	Vitamin D catabolic process	IBA
GO:0042369	Process	Vitamin D catabolic process	IEA
GO:0043627	Process	Response to estrogen	IEP	15795327
GO:0044283	Process	Small molecule biosynthetic process	IEA
GO:0045618	Process	Positive regulation of keratinocyte differentiation	IMP	12496369
GO:0046697	Process	Decidualization	IEP	16720713
GO:0046872	Function	Metal ion binding	IEA
GO:0055074	Process	Calcium ion homeostasis	IMP	9415400
GO:0062185	Function	Secalciferol 1-monooxygenase activity	IDA	10518789
GO:0062185	Function	Secalciferol 1-monooxygenase activity	IEA
GO:0070314	Process	G1 to G0 transition	IMP	12496369
GO:0070564	Process	Positive regulation of vitamin D receptor signaling pathway	IDA	16549446
GO:0071305	Process	Cellular response to vitamin D	IEA

Other IDs

• MIM: 609506
• HGNC: 2606
• e!Ensembl: ENSG00000111012

Protein

• UniProt ID: O15528
• Protein name: 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial (EC 1.14.15.18) (25-OHD-1 alpha-hydroxylase) (25-hydroxyvitamin D(3) 1-alpha-hydroxylase) (VD3 1A hydroxylase) (Calcidiol 1-monooxygenase) (Cytochrome P450 subfamily XXVIIB polypeptide 1) (Cytochrome
• Protein function: A cytochrome P450 monooxygenase involved in vitamin D metabolism and in calcium and phosphorus homeostasis. Catalyzes the rate-limiting step in the activation of vitamin D in the kidney, namely the hydroxylation of 25-hydroxyvitamin D3/calcidiol
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	41 → 505	Cytochrome P450	Domain

• Tissue specificity: TISSUE SPECIFICITY: Kidney. {ECO:0000269|PubMed:9428799, ECO:0000269|PubMed:9486994}.
• Sequence:

  MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSR
  LHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCR
  QRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPP
  ALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPH
  WLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFRE
  ELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPS
  ATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPA
  QFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQP
  EPGAAPVRPKTRTVLVPERSINLQFLDR

• Sequence length: 508

Pathways

KEGG:

Steroid biosynthesis
Metabolic pathways
Parathyroid hormone synthesis, secretion and action
Tuberculosis

Reactome:

Vitamin D (calciferol) metabolism
Vitamins
Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A)

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
CYP27B1-related disorder	Pathogenic; Likely pathogenic	rs387906260, rs759208930, rs780950819	RCV004755698 RCV003417870 RCV004755835	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs761780097	RCV005887196	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple sclerosis, susceptibility to	Pathogenic; Likely pathogenic	rs568165874, rs767480544	RCV003987480 RCV004761850	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vitamin D-dependent rickets, type 1	Likely pathogenic; Pathogenic	rs2140397587, rs2140397019, rs2140396410, rs28934604, rs118204009, rs780950819, rs1057520815, rs555068245, rs767480544	RCV001843328 RCV001843329 RCV001843330 RCV000001725 RCV000001736 RCV001028038 RCV000723316 RCV000626155 RCV000988872	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vitamin D-dependent rickets, type 1A	Likely pathogenic; Pathogenic	rs1955335874, rs1222556174, rs1450111961, rs2140397164, rs2140397262, rs118204010, rs2140396112, rs2140397587, rs2140396224, rs376304260, rs28934604, rs28934605, rs28934606, rs387906258, rs387906259, rs387906260, rs118204007, rs761780097, rs118204008, rs118204009, rs2140397731, rs770204470, rs118204011, rs2140397692, rs1024923221, rs763437121, rs568165874, rs759208930, rs780950819, rs1029699819, rs1238404973, rs2540919542, rs762550487, rs767480544, rs749537609, rs772960103	RCV005624652 RCV005005229 RCV005635128 RCV001614475 RCV001780604 RCV005006048 RCV001780912 RCV005006081 RCV001843693 RCV005635378 RCV001195100 RCV000001726 RCV000001727 RCV000001729 RCV000001730 RCV000001731 RCV000001733 RCV000001734 RCV000001735 RCV001195099 RCV000001737 RCV000001738 RCV000001739 RCV000001740 RCV002249854 RCV002284044 RCV005406492 RCV001329404 RCV005008226 RCV001808725 RCV004801370 RCV005003688 RCV004783097 RCV004586045 RCV001843547 RCV002479154 RCV002479372 RCV005012643 RCV001823195	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC POLYMYOSITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMYOSITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMYOSITIS OSSIFICANS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RICKETS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D-dependent rickets	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Addison Disease	Addison`s Disease	BEFREE	15296474		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17257827, 30028992		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	19444937, 19921089, 28403520		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	22511602		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	28403520		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28178628		★☆☆☆☆ 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	25845986, 27026514, 28590769, 28978148		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	36839181	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28178628		★☆☆☆☆ Found in Text Mining only
Atrichia	Atrichia	BEFREE	14676077		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	26073892	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15296474, 23614044, 23979957, 24158849, 24184224, 24692218, 28070798		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	15296474		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	23614044, 25060765	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	24184224		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	35279108	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24358191		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	30887870	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16538170, 16549446, 16886666, 20553787, 22480149, 28922720, 29332599, 29408579, 29626627, 30935796, 31041852, 9823305		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16280049, 17878529, 26632252, 31041852	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19331145	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28821819	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10385427, 29138024		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	15077124	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10385427, 12135810, 29250167		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27765924	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	26463745		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	15255550		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29321375		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	40237935	Inhibit	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	23375797		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	24029861, 28107527, 28178628, 31292298		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	25024626		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28938443		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17257827, 18843020, 19706847		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	12899539, 17257827	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	15208365, 24358191		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16081282, 24568525, 28009432, 28665452, 28821819		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19706847, 21084270, 23423976, 28009432, 28665452, 28821819, 31434255, 32260235, 33058307	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	28291736		★☆☆☆☆ Found in Text Mining only
Congenital phimosis	Congenital Phimosis	BEFREE	29080015		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	19891555		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24245571		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	24736319	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30429108		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	30429108	Stimulate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	25334067		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	26315479		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27935135		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	32407388	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27935135, 31583252		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	40237935	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	17606874, 21441443, 25060765, 37170809	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32542627	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	12039697, 15225764, 15296474, 17223345, 17606874, 17607662, 20518841, 21441443, 23063903, 23979957, 24325596, 25060765, 29552033, 31206955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	LHGDN	12039697		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12746631		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	12746631		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	19783860		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	22511602, 22690899		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgerminoma	Dysgerminoma	LHGDN	15331405		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	26315479		★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	19921089, 2156884		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	22690899		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11309335, 16061850, 16886678		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	16061850		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	16886678	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11309335, 16061850, 16886678		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11309335		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	12039697, 15296474, 15956353		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	LHGDN	12039697, 15296474		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	19891555	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure, Diastolic	Heart Failure	BEFREE	28827564		★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	25060765	Associate	★☆☆☆☆ 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
Humoral hypercalcemia of malignancy (disorder)	Humoral Hypercalcemia Of Malignancy	BEFREE	11691644		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia Neonatal	Hyperbilirubinemia	Pubtator	37259065	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	19113910, 27588937, 29080636, 30290590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia	Hypercalcemia	CTD_human_DG	20427501		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia	Hypercalcemia	Pubtator	26253396, 30290590, 35965075	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism Secondary	Hyperparathyroidism	Pubtator	23186957	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	25284246, 28686309		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	29667913		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19891555, 28827564, 36983047	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19891555		★☆☆☆☆ Found in Text Mining only
Hypocalcemia	Hypocalcemia	Pubtator	27353739	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalcemic seizures	Hypocalcemic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocalcemic vitamin D-dependent rickets	Hypocalcemic Vitamin D-Dependent Rickets	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Hypospadias	BEFREE	29080015		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30429108		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	30429108	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28827564		★☆☆☆☆ 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	11147830, 23155244, 25024626		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	25024626		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11147830		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	20082271, 27931333		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	14671156		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	33594806	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36326421	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	36326421	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	22544453		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	11309335, 15225832		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16538170, 16549446, 16886666, 20553787, 22480149, 25448748, 28922720, 29332599, 29408579, 29626627, 30935796, 31041852, 9823305		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12135810, 29250167		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	22612324		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	15255550, 25501638		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12386916, 15223133, 15947108, 17207994, 17932346, 19255064, 19400699, 19505920, 20687218, 21358824, 26124321, 30765615		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	26463745		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29323757		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15223133, 16886669, 20553787, 21669251, 22576141, 22995334, 24358191, 25207372, 25448748, 28245756, 28579119, 28632937, 28711350, 29197745, 31467173		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17257827, 18843020, 19706847		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17878529		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	17172823, 22576141, 22995334, 25334067, 31235702	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22576141, 22995334, 28218743, 28676457		★☆☆☆☆ Found in Text Mining only
Milk-Alkali Syndrome	Milk-Alkali Syndrome	CTD_human_DG	20427501		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	28033387		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18541802, 18689381, 20648053, 21431378, 21440908, 22190362, 22516854, 22547098, 23334593, 23444327, 23483640, 24158849, 24308945, 25542806, 26446064, 26466946, 27175669, 27904983, 27966076, 30875612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	19525955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	19525955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	20648053, 21431378, 23160276, 24308945, 25526461, 32518073, 32540991, 33484325, 34855907, 34977256	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	15223133, 16886678, 18649741, 18767934, 21669251, 22454149, 22995334, 24358191, 25501638, 25544771, 27639478, 27922682, 28526240		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	29208972		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	29080636		★☆☆☆☆ Found in Text Mining only
Nephrogenic Fibrosing Dermopathy	Nephrogenic Fibrosing Dermopathy	BEFREE	19113910		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	25542806		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30683615		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25544771, 26607259		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	14751420		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28787727		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	28787727, 35712242	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	31652924	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	BEFREE	28686309, 31725940		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	LHGDN	15243130		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	23776235, 28178628		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	17395559		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	40148931	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	15255550, 25501638		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19667158, 25501638	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	22690899, 25201000		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	18767934		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	18767934		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30297105		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35166042	Associate	★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	29080015		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	CTD_human_DG	20427501		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymyositis Ossificans	Polymyositis Ossificans	CTD_human_DG	20427501		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymyositis, Idiopathic	Polymyositis	CTD_human_DG	20427501		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12386916, 15223133, 15947108, 17207994, 17932346, 19255064, 19400699, 19505920, 20687218, 21358824, 26124321, 30765615		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12137802, 15947108, 17207994, 17932346		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	15860259		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18649741, 20687218, 21358824, 25488826, 32102946	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	23995795	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	26463745, 27573000		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	14751420		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	39583968	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31775746		★☆☆☆☆ Found in Text Mining only
Rachitic rosary	Rachitic rosary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24245571		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	14676077, 17488797, 18541802, 19921089, 22190362, 22855339, 27287609, 27364341, 28686309, 29080636, 9690035		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rickets	Rickets	CTD_human_DG	16494812		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rickets	Rickets	Pubtator	22855339, 25371233, 33004071	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rickets	Rickets	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	BEFREE	11403752, 20082271, 27588937		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	37242266	Associate	★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	28526240		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22612324		★☆☆☆☆ 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 Neoplasms	Thyroid cancer	Pubtator	22511602	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	22690899	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	30887870	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21859567, 27381199, 30429108, 31249444		★☆☆☆☆ Found in Text Mining only
Urinary Tract Infections	Urinary tract infection	Pubtator	34578991	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	31235702	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	23614044, 24184224		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	23614044	Associate	★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	27716192	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	12674324, 14751420, 18694980, 21145801, 22547098, 23416105, 27353739, 28922720, 28968988, 29552033, 29762475, 30993743, 31134092, 31175967		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	22855339, 23877860, 30993743, 34578991, 35256680, 37259065	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Vitamin D-Dependent Rickets	BEFREE	28548312		★☆☆☆☆ Found in Text Mining only
Vitamin D-dependent rickets, type 1	Vitamin D-Dependent Rickets	BEFREE	10320521, 11416220, 11737215, 15972816, 18541802, 20534770, 21604088, 21700898, 22443290, 22588163, 23444327, 24197768, 25284246, 26132292, 26982175, 27060335, 27353739, 27399352, 30382318, 31843680, 9415400		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vitamin D-dependent rickets, type 1	Vitamin D-Dependent Rickets	UNIPROT_DG	10320521, 10566658, 12050193, 9486994, 9837822		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vitamin D-dependent rickets, type 1	Vitamin D-Dependent Rickets	CLINVAR_DG	10518789, 11737215, 12050193, 21700898, 22443290, 23423976, 25284246, 9486994, 9837822		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vitamin D-dependent rickets, type 1	Vitamin D-Dependent Rickets	GENOMICS_ENGLAND_DG	30282619		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vitamin D-dependent rickets, type 1	Vitamin D-Dependent Rickets	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vitamin D-dependent rickets, type 1	Vitamin D-Dependent Rickets	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vitamin D-Dependent Rickets, Type 2A	Vitamin D-Dependent Rickets	BEFREE	14676077, 14751420		★☆☆☆☆ Found in Text Mining only
Xanthomatosis Cerebrotendinous	Xanthomatosis	Pubtator	11737215	Associate	★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	11737215		★☆☆☆☆ Found in Text Mining only