BMP4 (bone morphogenetic protein 4)

Gene

• Entrez ID: 652
• Gene name: Bone morphogenetic protein 4
• Gene symbol: BMP4
• Synonyms (NCBI Gene): BMP2B, BMP2B1, MCOPS6, OFC11, ZYME
• Chromosome: 14
• Chromosome location: 14q22.2
• Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912765	T>C	Pathogenic	Missense variant, coding sequence variant
rs121912767	G>C	Pathogenic, likely-benign	Missense variant, coding sequence variant
rs376960358	T>C	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs387906597	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1594792712	C>T	Likely-pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT053282	hsa-let-7i-5p	Luciferase reporter assay, qRT-PCR, Western blot	23454123
MIRT053282	hsa-let-7i-5p	Luciferase reporter assay, qRT-PCR, Western blot	23454123
MIRT822474	hsa-miR-147	CLIP-seq
MIRT822475	hsa-miR-297	CLIP-seq
MIRT822476	hsa-miR-299-3p	CLIP-seq
MIRT822477	hsa-miR-3650	CLIP-seq
MIRT822478	hsa-miR-3911	CLIP-seq
MIRT822479	hsa-miR-4491	CLIP-seq
MIRT822480	hsa-miR-4657	CLIP-seq
MIRT822481	hsa-miR-567	CLIP-seq
MIRT822482	hsa-miR-644	CLIP-seq
MIRT2444815	hsa-miR-1193	CLIP-seq
MIRT2444816	hsa-miR-1262	CLIP-seq
MIRT2444817	hsa-miR-1292	CLIP-seq
MIRT822474	hsa-miR-147	CLIP-seq
MIRT2444818	hsa-miR-3681	CLIP-seq
MIRT2444819	hsa-miR-3691-5p	CLIP-seq
MIRT822478	hsa-miR-3911	CLIP-seq
MIRT2444820	hsa-miR-4267	CLIP-seq
MIRT2444821	hsa-miR-4274	CLIP-seq
MIRT2444822	hsa-miR-4471	CLIP-seq
MIRT2444823	hsa-miR-4481	CLIP-seq
MIRT2444824	hsa-miR-4701-3p	CLIP-seq
MIRT2444825	hsa-miR-4745-5p	CLIP-seq
MIRT2444826	hsa-miR-4758-5p	CLIP-seq
MIRT2444827	hsa-miR-622	CLIP-seq
MIRT822482	hsa-miR-644	CLIP-seq
MIRT2444828	hsa-miR-648	CLIP-seq
MIRT2444815	hsa-miR-1193	CLIP-seq
MIRT2444816	hsa-miR-1262	CLIP-seq
MIRT2444817	hsa-miR-1292	CLIP-seq
MIRT822474	hsa-miR-147	CLIP-seq
MIRT2444818	hsa-miR-3681	CLIP-seq
MIRT2444819	hsa-miR-3691-5p	CLIP-seq
MIRT822478	hsa-miR-3911	CLIP-seq
MIRT2444822	hsa-miR-4471	CLIP-seq
MIRT2444823	hsa-miR-4481	CLIP-seq
MIRT2444824	hsa-miR-4701-3p	CLIP-seq
MIRT2444825	hsa-miR-4745-5p	CLIP-seq
MIRT2444826	hsa-miR-4758-5p	CLIP-seq
MIRT822482	hsa-miR-644	CLIP-seq
MIRT2444828	hsa-miR-648	CLIP-seq
MIRT2444815	hsa-miR-1193	CLIP-seq
MIRT2444816	hsa-miR-1262	CLIP-seq
MIRT2444817	hsa-miR-1292	CLIP-seq
MIRT822474	hsa-miR-147	CLIP-seq
MIRT2444818	hsa-miR-3681	CLIP-seq
MIRT2444819	hsa-miR-3691-5p	CLIP-seq
MIRT822478	hsa-miR-3911	CLIP-seq
MIRT2444822	hsa-miR-4471	CLIP-seq
MIRT2444823	hsa-miR-4481	CLIP-seq
MIRT2444824	hsa-miR-4701-3p	CLIP-seq
MIRT2444825	hsa-miR-4745-5p	CLIP-seq
MIRT2444826	hsa-miR-4758-5p	CLIP-seq
MIRT822482	hsa-miR-644	CLIP-seq
MIRT2444828	hsa-miR-648	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETS1	Activation	15695386
FOXL1	Activation	17873379
POU5F1	Repression	17068183
SOX2	Repression	24477565

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	9187146
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0001501	Process	Skeletal system development	IEA
GO:0001503	Process	Ossification	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001568	Process	Blood vessel development	IEA
GO:0001649	Process	Osteoblast differentiation	IDA	17720811
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001656	Process	Metanephros development	IEA
GO:0001657	Process	Ureteric bud development	IDA	12141440
GO:0001657	Process	Ureteric bud development	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IDA	12631064
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001707	Process	Mesoderm formation	IEA
GO:0001759	Process	Organ induction	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	IMP	18305125
GO:0001823	Process	Mesonephros development	IEP	18437684
GO:0001843	Process	Neural tube closure	IEA
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	14749725
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0001958	Process	Endochondral ossification	ISS
GO:0002043	Process	Blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IDA	18787191
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0002062	Process	Chondrocyte differentiation	ISS
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IDA	15451575
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0002320	Process	Lymphoid progenitor cell differentiation	IMP	12421925
GO:0002573	Process	Myeloid leukocyte differentiation	IEA
GO:0003007	Process	Heart morphogenesis	IBA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003007	Process	Heart morphogenesis	IMP	20702560
GO:0003014	Process	Renal system process	IEA
GO:0003129	Process	Heart induction	IEA
GO:0003129	Process	Heart induction	IMP	20702560
GO:0003139	Process	Secondary heart field specification	IMP	20702560
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003149	Process	Membranous septum morphogenesis	IEA
GO:0003149	Process	Membranous septum morphogenesis	ISS
GO:0003150	Process	Muscular septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003163	Process	Sinoatrial node development	NAS	26786210
GO:0003180	Process	Aortic valve morphogenesis	IEA
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0003184	Process	Pulmonary valve morphogenesis	IEA
GO:0003184	Process	Pulmonary valve morphogenesis	ISS
GO:0003197	Process	Endocardial cushion development	IEA
GO:0003197	Process	Endocardial cushion development	ISS
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0003277	Process	Apoptotic process involved in endocardial cushion morphogenesis	ISS
GO:0003279	Process	Cardiac septum development	TAS	18076106
GO:0003323	Process	Type B pancreatic cell development	IDA	11865031
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IDA	14749725
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	8413626, 8752214, 12045205, 18339631, 20505824, 20860622, 21054789, 33308444
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	ISS
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	16604073
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007281	Process	Germ cell development	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0007498	Process	Mesoderm development	IDA	8752214
GO:0007500	Process	Mesodermal cell fate determination	IEA
GO:0007507	Process	Heart development	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	15516325
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	9187146
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	20702560
GO:0009791	Process	Post-embryonic development	IDA	8674409
GO:0009791	Process	Post-embryonic development	IEA
GO:0009948	Process	Anterior/posterior axis specification	IEA
GO:0010159	Process	Specification of animal organ position	IEA
GO:0010453	Process	Regulation of cell fate commitment	IDA	18823971
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	24906886, 28124060
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IDA	28124060
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IEA
GO:0021537	Process	Telencephalon development	IDA	9187146
GO:0021537	Process	Telencephalon development	IEA
GO:0021904	Process	Dorsal/ventral neural tube patterning	IEA
GO:0021978	Process	Telencephalon regionalization	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0022408	Process	Negative regulation of cell-cell adhesion	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030224	Process	Monocyte differentiation	IDA	21149635
GO:0030225	Process	Macrophage differentiation	IDA	21149635
GO:0030324	Process	Lung development	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IDA	14749725
GO:0030501	Process	Positive regulation of bone mineralization	IDA	14749725, 18436533
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	8653785, 12065756
GO:0030509	Process	BMP signaling pathway	IDA	8752214, 9389648, 16816361, 17244894, 18436533, 18787191
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IMP	17472960
GO:0030509	Process	BMP signaling pathway	IMP	17992660, 18326817, 20702560
GO:0030509	Process	BMP signaling pathway	ISS	8653785
GO:0030509	Process	BMP signaling pathway	ISS
GO:0030510	Process	Regulation of BMP signaling pathway	IDA	33667543
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	ISS
GO:0030514	Process	Negative regulation of BMP signaling pathway	IDA	33667543
GO:0030858	Process	Positive regulation of epithelial cell differentiation	IEA
GO:0030858	Process	Positive regulation of epithelial cell differentiation	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0032092	Process	Positive regulation of protein binding	IDA	23610558
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IEA
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IDA	17720811
GO:0033085	Process	Negative regulation of T cell differentiation in thymus	IMP	12421925
GO:0033088	Process	Negative regulation of immature T cell proliferation in thymus	IMP	12421925
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035990	Process	Tendon cell differentiation	IEA
GO:0035990	Process	Tendon cell differentiation	ISS
GO:0035993	Process	Deltoid tuberosity development	IEA
GO:0035993	Process	Deltoid tuberosity development	ISS
GO:0036305	Process	Ameloblast differentiation	IEA
GO:0039706	Function	Co-receptor binding	IEA
GO:0039706	Function	Co-receptor binding	IPI	16604073
GO:0042056	Function	Chemoattractant activity	IDA	12631064
GO:0042306	Process	Regulation of protein import into nucleus	IDA	22529382
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042476	Process	Odontogenesis	IGI	11023873
GO:0042487	Process	Regulation of odontogenesis of dentin-containing tooth	IEA
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	9187146
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043068	Process	Positive regulation of programmed cell death	IDA	8674409
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	14749725
GO:0045165	Process	Cell fate commitment	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045603	Process	Positive regulation of endothelial cell differentiation	IEA
GO:0045606	Process	Positive regulation of epidermal cell differentiation	IDA	18823971
GO:0045662	Process	Negative regulation of myoblast differentiation	IDA	14749725
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IDA	14749725
GO:0045669	Process	Positive regulation of osteoblast differentiation	IDA	18436533
GO:0045778	Process	Positive regulation of ossification	IDA	14749725
GO:0045778	Process	Positive regulation of ossification	IEA
GO:0045786	Process	Negative regulation of cell cycle	IDA	11502704
GO:0045839	Process	Negative regulation of mitotic nuclear division	IDA	17244894
GO:0045843	Process	Negative regulation of striated muscle tissue development	IDA	14749725
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12631064
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17600318
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9187146
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15516325
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	18326817
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048286	Process	Lung alveolus development	IDA	8674409
GO:0048333	Process	Mesodermal cell differentiation	IEA
GO:0048392	Process	Intermediate mesodermal cell differentiation	IDA	10021330
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0048598	Process	Embryonic morphogenesis	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048660	Process	Regulation of smooth muscle cell proliferation	IEA
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IDA	17600318
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0048745	Process	Smooth muscle tissue development	IEA
GO:0048745	Process	Smooth muscle tissue development	IEP	17850284
GO:0048745	Process	Smooth muscle tissue development	ISS
GO:0048863	Process	Stem cell differentiation	IEA
GO:0048863	Process	Stem cell differentiation	ISS
GO:0048863	Process	Stem cell differentiation	ISS
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IDA	11865031
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0050918	Process	Positive chemotaxis	IEA
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0051150	Process	Regulation of smooth muscle cell differentiation	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051241	Process	Negative regulation of multicellular organismal process	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0055020	Process	Positive regulation of cardiac muscle fiber development	IMP	20702560
GO:0060235	Process	Lens induction in camera-type eye	IEA
GO:0060272	Process	Embryonic skeletal joint morphogenesis	IEA
GO:0060348	Process	Bone development	IEA
GO:0060363	Process	Cranial suture morphogenesis	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	9389648, 16816361, 17244894, 18787191, 20559569
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IMP	17992660
GO:0060425	Process	Lung morphogenesis	IDA	8674409
GO:0060426	Process	Lung vasculature development	IEA
GO:0060426	Process	Lung vasculature development	IMP	17992660
GO:0060429	Process	Epithelium development	IEA
GO:0060433	Process	Bronchus development	IDA	8674409
GO:0060438	Process	Trachea development	IDA	8674409
GO:0060440	Process	Trachea formation	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IDA	8674409
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060442	Process	Branching involved in prostate gland morphogenesis	IEA
GO:0060449	Process	Bud elongation involved in lung branching	IEA
GO:0060502	Process	Epithelial cell proliferation involved in lung morphogenesis	IDA	8674409
GO:0060503	Process	Bud dilation involved in lung branching	IDA	8674409
GO:0060512	Process	Prostate gland morphogenesis	IEA
GO:0060513	Process	Prostatic bud formation	IEA
GO:0060537	Process	Muscle tissue development	IEA
GO:0060592	Process	Mammary gland formation	IEA
GO:0060684	Process	Epithelial-mesenchymal cell signaling	IEA
GO:0060686	Process	Negative regulation of prostatic bud formation	IEA
GO:0060687	Process	Regulation of branching involved in prostate gland morphogenesis	IEA
GO:0060688	Process	Regulation of morphogenesis of a branching structure	IEA
GO:0060976	Process	Coronary vasculature development	IEA
GO:0060976	Process	Coronary vasculature development	ISS
GO:0061035	Process	Regulation of cartilage development	IEA
GO:0061036	Process	Positive regulation of cartilage development	IDA	3201241
GO:0061036	Process	Positive regulation of cartilage development	IEA
GO:0061047	Process	Positive regulation of branching involved in lung morphogenesis	IEA
GO:0061047	Process	Positive regulation of branching involved in lung morphogenesis	ISS
GO:0061626	Process	Pharyngeal arch artery morphogenesis	IEA
GO:0061626	Process	Pharyngeal arch artery morphogenesis	ISS
GO:0070244	Process	Negative regulation of thymocyte apoptotic process	IMP	12421925
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070700	Function	BMP receptor binding	IDA	7811286
GO:0070700	Function	BMP receptor binding	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071773	Process	Cellular response to BMP stimulus	IEA
GO:0071773	Process	Cellular response to BMP stimulus	IMP	18326817
GO:0072104	Process	Glomerular capillary formation	IEA
GO:0072104	Process	Glomerular capillary formation	ISS
GO:0072125	Process	Negative regulation of glomerular mesangial cell proliferation	IDA	17244894
GO:0072179	Process	Nephric duct formation	IDA	10021330
GO:0072197	Process	Ureter morphogenesis	IEA
GO:0072200	Process	Negative regulation of mesenchymal cell proliferation involved in ureter development	IDA	12399320
GO:0090189	Process	Regulation of branching involved in ureteric bud morphogenesis	IEA
GO:0090191	Process	Negative regulation of branching involved in ureteric bud morphogenesis	IDA	12141440
GO:0090191	Process	Negative regulation of branching involved in ureteric bud morphogenesis	IEA
GO:0090194	Process	Negative regulation of glomerulus development	IDA	12141440
GO:1900182	Process	Positive regulation of protein localization to nucleus	IEA
GO:1900182	Process	Positive regulation of protein localization to nucleus	ISS
GO:1900745	Process	Positive regulation of p38MAPK cascade	IDA	17600318
GO:1900745	Process	Positive regulation of p38MAPK cascade	IEA
GO:1901331	Process	Positive regulation of odontoblast differentiation	IEA
GO:1901331	Process	Positive regulation of odontoblast differentiation	ISS
GO:1902893	Process	Regulation of miRNA transcription	IMP	18548003
GO:1902894	Process	Negative regulation of miRNA transcription	IDA	28124060
GO:1904238	Process	Pericyte cell differentiation	IEA
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	TAS	22988237
GO:1904753	Process	Negative regulation of vascular associated smooth muscle cell migration	TAS	22988237
GO:1905072	Process	Cardiac jelly development	ISS
GO:1905312	Process	Positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA
GO:1905770	Process	Regulation of mesodermal cell differentiation	IEA
GO:2000005	Process	Negative regulation of metanephric S-shaped body morphogenesis	IDA	12141440
GO:2000007	Process	Negative regulation of metanephric comma-shaped body morphogenesis	IDA	12141440
GO:2000636	Process	Positive regulation of primary miRNA processing	IDA	18548003
GO:2000725	Process	Regulation of cardiac muscle cell differentiation	IEA
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IEA
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	ISS

Other IDs

• MIM: 112262
• HGNC: 1071
• e!Ensembl: ENSG00000125378

Protein

• UniProt ID: P12644
• Protein name: Bone morphogenetic protein 4 (BMP-4) (Bone morphogenetic protein 2B) (BMP-2B)
• Protein function: Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis (PubMed:31363885). Acts in concert with PTHLH/PTHRP to stimulate du
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00688	TGFb_propeptide	39 → 275	TGF-beta propeptide	Family
  PF00019	TGF_beta	307 → 407	Transforming growth factor beta like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the lung and lower levels seen in the kidney. Present also in normal and neoplastic prostate tissues, and prostate cancer cell lines.
• Sequence:

  MIPGNRMLMVVLLCQVLLGGASHASLIPETGKKKVAEIQGHAGGRRSGQSHELLRDFEAT
  LLQMFGLRRRPQPSKSAVIPDYMRDLYRLQSGEEEEEQIHSTGLEYPERPASRANTVRSF
  HHEEHLENIPGTSENSAFRFLFNLSSIPENEVISSAELRLFREQVDQGPDWERGFHRINI
  YEVMKPPAEVVPGHLITRLLDTRLVHHNVTRWETFDVSPAVLRWTREKQPNYGLAIEVTH
  LHQTRTHQGQHVRISRSLPQGSGNWAQLRPLLVTFGHDGRGHALTRRRRAKRSPKHHSQR
  ARKKNKNCRRHSLYVDFSDVGWNDWIVAPPGYQAFYCHGDCPFPLADHLNSTNHAIVQTL
  VNSVNSSIPKACCVPTELSAISMLYLDEYDKVVLKNYQEMVVEGCGCR

• Sequence length: 408

Pathways

KEGG:

Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Thyroid hormone signaling pathway
Pathways in cancer
Basal cell carcinoma
Fluid shear stress and atherosclerosis

Reactome:

Molecules associated with elastic fibres
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation

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
Irido-corneo-trabecular dysgenesis	Likely pathogenic	rs2502576504	RCV002291345	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmia with brain and digit anomalies	Pathogenic; Likely pathogenic	rs2140238013, rs2140237954, rs2502585093, rs387906597, rs2140238150	RCV001956323 RCV000019274 RCV004556167 RCV000022456 RCV000022457	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Orofacial cleft 11	Pathogenic	rs2140238013, rs387906597	RCV001956323 RCV000022455	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Absence of the sacrum	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia/hypoplasia involving bones of the lower limbs	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, PSORIATIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BMP4-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BMP4-RELATED OCULAR GROWTH DISORDER	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BMP4-Related Syndromic Microphthalmia	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARTILAGE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Lip +/- Cleft Palate, Autosomal Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE WITH CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL ABSENCE OF TOOTH	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kapur-Toriello syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Low bone mineral density	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARSHALL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 6	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial cleft	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOARTHRITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SACRAL AGENESIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndromic Microphthalmia, Dominant	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tooth agenesis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Vitamin A deficiency	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	CTD_human_DG	16195406		★☆☆☆☆ Found in Text Mining only
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	26542941		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	24400095, 31337120		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	23528261		★☆☆☆☆ Found in Text Mining only
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	30074466		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21950830		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	19321257		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	27191723		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28852126		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	22700770, 23539512		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	25647270		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24400095		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	19158083, 20157553, 21411747		★☆☆☆☆ 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	36764297	Associate	★☆☆☆☆ Found in Text Mining only
ALZHEIMER DISEASE 2	Alzheimer disease	BEFREE	9312124		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	27327904		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	27780042	Associate	★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	27146352		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29932880		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	31494396		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	21228692		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	12064918, 20844235		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	26215597	Associate	★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	BEFREE	23971635		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	26166641, 31128441	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	18252212	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	BEFREE	19685247, 23103883, 24431331, 30268123, 30568244		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Anophthalmia	Pubtator	21340693, 24431331, 30568244	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anorectal atresia	Imperforate anus	BEFREE	23127126		★☆☆☆☆ Found in Text Mining only
Anterior segment mesenchymal dysgenesis	Anterior segment mesenchymal dysgenesis	Pubtator	21340693, 32224865	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Disease	Aortic valve disease	Pubtator	23483047	Associate	★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	26215597		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17785623, 23559633, 31504243		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	24782191	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	33980237	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16542506, 33463122	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	31178673	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	CTD_human_DG	20008919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	35731115, 35858526	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	23590708	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17785623, 23559633, 31504243		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	30713213	Associate	★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	29452107, 29738572		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	29452107, 29738572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	29223822, 30444277		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29452107, 29738572		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	22578327	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	25977194	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	35721721	Stimulate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29845231, 31032945, 31113339		★☆☆☆☆ Found in Text Mining only
Barrett Epithelium	Barrett Epithelium	BEFREE	20138038, 27693253		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	20138038, 21950830, 22504665, 27191723		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	27191723	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	32968094, 34786954	Stimulate	★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	LHGDN	17003113		★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	BEFREE	20057906		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28928159, 30446454, 31088707		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	10809227, 30044535		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	11154231, 23927997, 36453845	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	31128441	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	23899883		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	18252212	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	24789034, 27240162		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17004110, 20182795, 22118688, 22167620, 24053318, 25601208, 26406943, 26684238, 26970275, 26976638, 28077088, 30161001, 31409851		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	23180569		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22118688, 22899288, 23180569, 24337772, 25601208, 26976638, 27740625, 28077088, 30161001, 36194598	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	24053318	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiolitis Obliterans	Bronchiolitis Obliterans	BEFREE	20632031		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	18233958, 24131739, 28797033, 30568244		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cakut	Congenital anomalies of kidney and urinary tract	GENOMICS_ENGLAND_DG	19685083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	24131739, 30568244	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcinosis	Calcinosis	Pubtator	21710445	Inhibit	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	31298330, 35955575	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	36958298	Stimulate	★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	28231844	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26339396, 30079292	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	17003113	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18326817, 21863061, 22350792, 23437062, 24573607, 29562958, 38062093	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28928159, 30446454, 31088707		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19269967, 19324447, 21050181, 26395571, 28852126, 29229885, 31298330		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23255092	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34110955	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22430804	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22899288, 30705127	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12865307, 23255092		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	33407844	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	20665672	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	35313742	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	20057906, 29692399	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cayler cardiofacial syndrome	Cayler cardiofacial syndrome	Pubtator	19249007	Associate	★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	28787124		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	24400095		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	25740074	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	23927997		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	23927997	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	26339396	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	24157943		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29850574		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30705127		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	29367682		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	19249007, 24589633, 25471993	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	18771417, 19839778, 19914800, 28133786, 28767592, 29860186, 31053785		★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	17564975, 19249007, 22514733, 24589633, 25471993, 29211286, 31063268	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	21340693	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	35733095	Stimulate	★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	20057906	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15197354, 17640799, 21387313, 25863591, 26029998		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17275810, 17640799		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19011631, 19321257, 20949628, 20951698, 21655089, 22158048, 22170598, 22367214, 22749032, 22879968, 23161572, 24753543, 24932582, 24952462, 24968322, 25647270, 28611046, 30158634, 31641208		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	19011631		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16733264, 20949628, 21387313, 21655089, 22367214, 22383492, 24753543, 26072521, 29986714, 33565505, 33982211, 36657129, 37628872	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	19011631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	20951698		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	35805171	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	21340693		★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	29692399		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	30688291		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	25022354, 30082698		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	20057906, 24859618		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	24398041		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22430804		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Posterior Polymorphous 1	Posterior polymorphous corneal dystrophy	Pubtator	28654985	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24398041		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	23208015, 28604383	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	24398041		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24398041, 25022354		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	26103914		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	19557432		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16542506, 30205161		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	16542506		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	20008919		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	30609838	Associate	★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	BEFREE	27146352		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	15389255	Associate	★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	BEFREE	22191848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	21340693	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29943307		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26769046, 29943307		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32596370	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24350253, 32596370	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19453255, 24350253, 27524617, 28186649, 29943307		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	20546278, 30158674, 30601699, 30708099		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	LHGDN	16514669		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	21123999		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	18637741, 21340693		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	24785830		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	24077349	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	23460397		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	24661731	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28315766		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	18219111	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	25591903	Associate	★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	27661448, 28558098	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	21340693	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	27191723		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	31831718		★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	10441661, 11076054, 12579020, 12672843, 16753021, 17272450, 17345627, 22736080, 27530160, 29170109, 8678932, 9577408, 9577410, 9577414, 9701626		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	BEFREE	22752548		★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	12131877	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	17325163		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	22736943	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	22736943		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23590708, 26748716, 31189077, 32234828, 35192123, 35639831, 40362216	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24789034, 30844730, 31189077		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24789034, 30844730, 31189077		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20730570, 21355779, 24099560, 25808628, 28278424, 29212066		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23590708, 24099560, 25808628, 32788653	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36324293	Inhibit	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	21340693	Associate	★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	29933899		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	25022354, 29952356	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	24398041		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	35346191	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Congenital heart septal defect	Pubtator	25022354, 29952356	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	25022354	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	17847004, 39563390	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	23775568	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	26755648		★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	26111189	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	29393463, 31258657, 31849612		★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	BEFREE	8339498		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	21340693		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	21340693	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	15569159, 28655168		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	28572510		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29943307		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	25896660		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25591903, 29390526	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16769910, 20724703, 23559633, 24202302, 25824146, 29390526		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	16769910		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	24782191, 25591903, 33198759	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	25591903	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	23079991, 30256498		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	35805171	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	18587495, 37180146, 40613289	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27875556, 28235949, 28619995		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18072275		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	21340693		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	25977194	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	37819756	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	BEFREE	31258657		★☆☆☆☆ Found in Text Mining only
Irido-corneal dysgenesis	Anterior segment dysgenesis	BEFREE	29738572		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	39563390	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	24782191		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	19956410	Associate	★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	30079292		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	31179571		★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	23262432	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	24157943		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	25591903		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22753742, 24044460, 24400095, 28768794		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24100446, 24400095, 29138221	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26279521, 30262802, 31322275	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	21406719, 26720758	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	23528261	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26279521		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	21567100, 30287850		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18326817, 19139273, 19431154, 21863061, 22024355, 22241220, 22773665, 26386860, 28093286, 28543546, 28987388, 29562958, 30012194, 30718464, 30941514		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	29578859	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	23775568	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	18326817		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	22718766	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	25142202		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19269967	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	28214211		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31298330	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22753742		★☆☆☆☆ Found in Text Mining only
Macroprolactinoma	Macroprolactinoma	CTD_human_DG	16809920		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	19158083	Stimulate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	20157553	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	22752548		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	28278424		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17004110, 20182795, 22118688, 22167620, 24053318, 25601208, 26406943, 26684238, 26970275, 26976638, 28077088, 30161001, 31409851		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	23180569		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	12019147		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	22773665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19269967, 19324447, 21050181, 26395571, 28852126, 29229885, 31298330		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	21567100		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12865307, 23255092		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21062988, 21996749, 8146069		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22535375		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	29441462		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28928159, 30446454, 31088707		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19269967, 19557432, 20951698, 21953141, 22167620, 22749032, 25269615, 25647270, 28077088, 28315766, 28611046, 29477370, 29780169, 30012194, 30153566, 30287850, 30941514, 31409851		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	11642720		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15197354, 17640799, 21387313, 25863591, 26029998		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	23180569		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17189614		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21468687		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	23180569		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	23180569		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15695386, 19557432, 20480203, 21673687, 30297743		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	20480203, 21673687	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	19816200		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	23971635		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	26769046		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	15695386		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmia Syndromic 6	Microphthalmia	Pubtator	18252212, 21340693	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmia with brain and digit anomalies	Microphthalmia With Brain And Digit Anomalies	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MICROPHTHALMIA, SYNDROMIC 6 (disorder)	Syndromic microphthalmia	UNIPROT_DG	18252212		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 6 (disorder)	Syndromic microphthalmia	GENOMICS_ENGLAND_DG	18252212, 21340693, 2427285, 24289245		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 6 (disorder)	Syndromic microphthalmia	ORPHANET_DG	18252212		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 6 (disorder)	Syndromic microphthalmia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 6 (disorder)	Syndromic microphthalmia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	18252212, 20057906, 29692399, 30568244, 31053785		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	20057906, 21340693, 29692399, 30568244	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microprolactinoma	Microprolactinoma	CTD_human_DG	16809920		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	28057877		★☆☆☆☆ Found in Text Mining only
Mitral valve dysplasia	Mitral Valve Dysplasia	BEFREE	25814644		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	22105615	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	BEFREE	22105615, 23261354		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	28778435		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	8678932, 9042799	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis I	Mucopolysaccharidosis	LHGDN	18385288		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis I	Mucopolysaccharidosis	Pubtator	18385288	Associate	★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic dysplastic kidney	Pubtator	24131739	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11154231	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28778435, 30609838, 7572083		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	30553833, 30609838	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	28778435		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	16679024, 20940052		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	25608238		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	25608238	Inhibit	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	30206237		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	18252212		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	18252212	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis Ossificans	Myositis	Pubtator	10457277, 15940369, 27530160, 8678932, 9042799	Associate	★☆☆☆☆ Found in Text Mining only
Myositis Ossificans	Myositis	Pubtator	16753021	Stimulate	★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	29367682	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15197354, 17696196, 19431154, 19773112, 20951698, 21387313, 21567100, 22430804, 23180569, 24044460, 24099560, 24100446, 24477565, 24789034, 27780042, 28214211, 28278424, 28987388, 29229885, 30079292		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	12404109, 23971635		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	LHGDN	11642720		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29051534		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	29051534, 32210188	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	16542506	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31831718		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24779016, 28574846, 31177178, 31298330		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27522322, 27524617, 28376799, 28768190, 31831718		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	22736943		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular hypertension	Pubtator	22736943	Associate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	29339669	Associate	★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	30079292		★☆☆☆☆ Found in Text Mining only
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	BEFREE	24782191		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	BEFREE	23079991		★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	BEFREE	23237431		★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	31397922		★☆☆☆☆ Found in Text Mining only
Orofacial cleft	Orofacial Cleft	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OROFACIAL CLEFT 1	Orofacial Cleft	BEFREE	22182590		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	22182590, 22514733, 25471993	Associate	★☆☆☆☆ Found in Text Mining only
OROFACIAL CLEFT 11	Orofacial Cleft	BEFREE	17564975		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orofacial Cleft 11	Orofacial cleft	Pubtator	17564975	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OROFACIAL CLEFT 11	Orofacial Cleft	GENOMICS_ENGLAND_DG	18252212, 2427285		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OROFACIAL CLEFT 11	Orofacial Cleft	UNIPROT_DG	19249007		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OROFACIAL CLEFT 11	Orofacial Cleft	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OROFACIAL CLEFT 11	Orofacial Cleft	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	Ossification Of The Posterior Longitudinal Ligament Of Spine	BEFREE	21034624		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	16542506	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	24894724, 35313742, 36046996	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	25151085		★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	20008919		★☆☆☆☆ Found in Text Mining only
Osteolysis	Osteolysis	Pubtator	17729302	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	12939000, 31128441		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	10908420, 28238166, 30044535, 31128441		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	31128441	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	10908420		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	11986346, 33034913	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24492129, 9874511		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	18021008, 24492129		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	LHGDN	18021008		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	Pubtator	18021008	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	24559233		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	12865307, 23255092, 26755648		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	12865307, 17272306		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21674241, 23255092	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17516553		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	17516553		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19018761, 19056927	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23651239	Stimulate	★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	31120642		★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	30074466		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28214211		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33791366	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31032945		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	23785438	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	16195406		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	23243014		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	18252212, 18925664		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	18252212	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	21340693		★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	21340693	Associate	★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	24806485		★☆☆☆☆ Found in Text Mining only
Polysyndactyly	Polysyndactyly	BEFREE	18925664		★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	24559233		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	CTD_human_DG	16809920		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	19407504, 22366961, 22700770, 31705792		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	27586653		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21062988, 21996749, 23840733		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16126463, 18632632		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18942118, 25858146	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	21062988		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	31611943		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	19324947, 22718766, 27875556, 35442992	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30705127	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	21387313		★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	31596288		★☆☆☆☆ Found in Text Mining only
Renal agenesis, unilateral	Renal Agenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22430804		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	BEFREE	23262432, 30568244		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	23262432, 30568244		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	10670493		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	18252212		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	31810025		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	21152263		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	21152263, 26173116	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	15688035, 17696196		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	LHGDN	17696196		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	33034913	Stimulate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16542506, 31596288		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	16542506		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	20008919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Synovial	Synovial sarcoma	Pubtator	33034913	Stimulate	★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	BEFREE	31053785		★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	31178673, 31545397	Associate	★☆☆☆☆ Found in Text Mining only
Senior Loken Syndrome	Senior-loken syndrome	Pubtator	23262432, 30568244	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
SHORT syndrome	SHORT Syndrome	BEFREE	21340693		★☆☆☆☆ Found in Text Mining only
SHORT syndrome	Short syndrome	Pubtator	21340693	Associate	★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	21123999		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	35393522	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	31611943		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	LHGDN	12404109		★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	23899883		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	27331400		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21567100, 28852126		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31730904		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	24477565, 28852126		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21565626		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31831718		★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	BEFREE	30568244		★☆☆☆☆ Found in Text Mining only
Stickler syndrome type 1	Stickler syndrome	Pubtator	30568244	Associate	★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	BEFREE	30568244		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22535375		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37180146	Stimulate	★☆☆☆☆ Found in Text Mining only
Subclinical hypothyroidism	Subclinical Hypothyroidism	BEFREE	28376799		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	18252212		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	18252212	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	24661680		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	38237535	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29441462		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29441462		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	22752548		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	ORPHANET_DG	21900877		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	12163415, 29860186		★☆☆☆☆ Found in Text Mining only
Ureteral Neoplasms	Ureteral neoplasms	Pubtator	28928250	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21483740, 33452764	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	26848019	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis Posterior	Uveitis	Pubtator	26848019	Associate	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	34944071	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	39768183	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	16769910, 27875556		★☆☆☆☆ Found in Text Mining only
Velopharyngeal Insufficiency	Velopharyngeal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	25591903	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	CTD_human_DG	16120438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	27586653	Associate	★☆☆☆☆ Found in Text Mining only