PHGDH (phosphoglycerate dehydrogenase)

Gene

• Entrez ID: 26227
• Gene name: Phosphoglycerate dehydrogenase
• Gene symbol: PHGDH
• Synonyms (NCBI Gene): 3-PGDH, 3PGDH, HEL-S-113, NLS, NLS1, PDG, PGAD, PGD, PGDH, PHGDHD, SERA
• Chromosome: 1
• Chromosome location: 1p12
• Summary: This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mut

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121907987	G>A	Pathogenic	Missense variant, coding sequence variant
rs121907988	G>A	Pathogenic	Missense variant, coding sequence variant
rs267606947	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs267606948	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587777774	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777775	G>C	Pathogenic	Coding sequence variant, missense variant
rs730882181	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs769256568	C>T	Pathogenic	Stop gained, coding sequence variant
rs775936961	C>T	Pathogenic	Coding sequence variant, missense variant
rs886041874	T>C	Pathogenic, likely-pathogenic	Splice donor variant
rs1553238760	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1571013274	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020945	hsa-miR-155-5p	Proteomics	18668040
MIRT030040	hsa-miR-26b-5p	Microarray	19088304
MIRT048300	hsa-miR-107	CLASH	23622248
MIRT043507	hsa-miR-331-3p	CLASH	23622248
MIRT039728	hsa-miR-615-3p	CLASH	23622248
MIRT038390	hsa-miR-296-3p	CLASH	23622248
MIRT036377	hsa-miR-1229-3p	CLASH	23622248
MIRT265758	hsa-miR-4519	PAR-CLIP	20371350
MIRT367150	hsa-miR-1178-5p	PAR-CLIP	20371350
MIRT571070	hsa-miR-6847-5p	PAR-CLIP	20371350
MIRT571069	hsa-miR-4257	PAR-CLIP	20371350
MIRT265756	hsa-miR-759	PAR-CLIP	20371350
MIRT332444	hsa-miR-6733-3p	PAR-CLIP	20371350
MIRT265759	hsa-miR-6499-3p	PAR-CLIP	20371350
MIRT367151	hsa-miR-6801-5p	PAR-CLIP	20371350
MIRT265755	hsa-miR-143-5p	PAR-CLIP	20371350
MIRT265760	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT265758	hsa-miR-4519	PAR-CLIP	20371350
MIRT367150	hsa-miR-1178-5p	PAR-CLIP	20371350
MIRT571070	hsa-miR-6847-5p	PAR-CLIP	20371350
MIRT571069	hsa-miR-4257	PAR-CLIP	20371350
MIRT265756	hsa-miR-759	PAR-CLIP	20371350
MIRT332444	hsa-miR-6733-3p	PAR-CLIP	20371350
MIRT265759	hsa-miR-6499-3p	PAR-CLIP	20371350
MIRT367151	hsa-miR-6801-5p	PAR-CLIP	20371350
MIRT265755	hsa-miR-143-5p	PAR-CLIP	20371350
MIRT265760	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT1231364	hsa-miR-128	CLIP-seq
MIRT1231365	hsa-miR-1293	CLIP-seq
MIRT1231366	hsa-miR-137	CLIP-seq
MIRT1231367	hsa-miR-27a	CLIP-seq
MIRT1231368	hsa-miR-27b	CLIP-seq
MIRT1231369	hsa-miR-4483	CLIP-seq
MIRT1231370	hsa-miR-4659a-3p	CLIP-seq
MIRT1231371	hsa-miR-4659b-3p	CLIP-seq
MIRT1231372	hsa-miR-4718	CLIP-seq
MIRT1231373	hsa-miR-483-5p	CLIP-seq
MIRT1231374	hsa-miR-629	CLIP-seq
MIRT1231366	hsa-miR-137	CLIP-seq
MIRT2295349	hsa-miR-1471	CLIP-seq
MIRT2295350	hsa-miR-3157-5p	CLIP-seq
MIRT2295351	hsa-miR-4690-3p	CLIP-seq
MIRT1231372	hsa-miR-4718	CLIP-seq
MIRT2295352	hsa-miR-4747-3p	CLIP-seq
MIRT1231373	hsa-miR-483-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HOXA10	Repression	19778996
SP1	Activation	18378410

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004617	Function	Phosphoglycerate dehydrogenase activity	IBA
GO:0004617	Function	Phosphoglycerate dehydrogenase activity	IEA
GO:0004617	Function	Phosphoglycerate dehydrogenase activity	TAS	8758134
GO:0005515	Function	Protein binding	IPI	25036637, 33961781, 35271311
GO:0005829	Component	Cytosol	TAS
GO:0006541	Process	Glutamine metabolic process	IEA
GO:0006544	Process	Glycine metabolic process	IEA
GO:0006563	Process	L-serine metabolic process	IEA
GO:0006564	Process	L-serine biosynthetic process	IEA
GO:0006566	Process	Threonine metabolic process	IEA
GO:0007420	Process	Brain development	TAS	8758134
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009055	Function	Electron transfer activity	TAS	8758134
GO:0009448	Process	Gamma-aminobutyric acid metabolic process	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0019530	Process	Taurine metabolic process	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0021782	Process	Glial cell development	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030060	Function	L-malate dehydrogenase (NAD+) activity	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0051287	Function	NAD binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 23533145
GO:0070314	Process	G1 to G0 transition	IEA

Other IDs

• MIM: 606879
• HGNC: 8923
• e!Ensembl: ENSG00000092621

Protein

• UniProt ID: O43175
• Protein name: D-3-phosphoglycerate dehydrogenase (3-PGDH) (EC 1.1.1.95) (2-oxoglutarate reductase) (EC 1.1.1.399) (Malate dehydrogenase) (EC 1.1.1.37)
• Protein function: Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L-serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the re
• PDB: 2G76, 5N53, 5N6C, 5NZO, 5NZP, 5NZQ, 5OFM, 5OFV, 5OFW, 6CWA, 6PLF, 6PLG, 6RIH, 6RJ2, 6RJ3, 6RJ5, 6RJ6, 7CVP, 7DKM, 7EWH, 7VA1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00389	2-Hacid_dh	9 → 317	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	Domain
  PF02826	2-Hacid_dh_C	111 → 285	D-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain	Domain

• Sequence:

  MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVT
  ADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMNTPNGNSLSAAELTCGMIMCLARQ
  IPQATASMKDGKWERKKFMGTELNGKTLGILGLGRIGREVATRMQSFGMKTIGYDPIISP
  EVSASFGVQQLPLEEIWPLCDFITVHTPLLPSTTGLLNDNTFAQCKKGVRVVNCARGGIV
  DEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHENVISCPHLGASTKEAQSRCGEEIA
  VQFVDMVKGKSLTGVVNAQALTSAFSPHTKPWIGLAEALGTLMRAWAGSPKGTIQVITQG
  TSLKNAGNCLSPAVIVGLLKEASKQADVNLVNAKLLVKEAGLNVTTSHSPAAPGEQGFGE
  CLLAVALAGAPYQAVGLVQGTTPVLQGLNGAVFRPEVPLRRDLPLLLFRTQTSDPAMLPT
  MIGLLAEAGVRLLSYQTSLVSDGETWHVMGISSLLPSLEAWKQHVTEAFQFHF

• Sequence length: 533

Pathways

KEGG:

Glycine, serine and threonine metabolism
Cysteine and methionine metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids

Reactome:

Serine biosynthesis

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
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs886041874	RCV000415201	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neu-Laxova syndrome 1	Likely pathogenic; Pathogenic	rs2101221217, rs766427173, rs951372478, rs1331155296, rs749134845, rs587777774, rs121907987, rs267606949, rs267606948, rs149128100, rs2464204681, rs886041874, rs2464160831, rs2464159619, rs2464187735, rs769256568, rs1571013274, rs1224279673, rs1652276195, rs1651455730	RCV005014544 RCV001420191 RCV003339747 RCV005006219 RCV005016804 RCV000144444 RCV002482824 RCV000675113 RCV000850583 RCV003882739 RCV005008776 RCV003340589 RCV003338496 RCV003327315 RCV005014824 RCV005013104 RCV000625901 RCV003338892 RCV002497363 RCV004798890 RCV003339553	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PHGDH deficiency	Likely pathogenic; Pathogenic	rs2101195348, rs2101225889, rs979237677, rs1652150288, rs2101221217, rs1652224758, rs766427173, rs951372478, rs781273456, rs1418800829, rs1331155296, rs758517215, rs2101205361, rs1302054606, rs1651264976, rs1650717188, rs2101220673, rs2101160478, rs1217925678, rs1650721954, rs2101216259, rs2101136632, rs750368565, rs1341545186, rs1489498331, rs2101224520, rs2101155246, rs2101198087, rs2101160151, rs1215699403, rs749134845, rs779159301, rs121907987, rs730882181, rs267606949, rs267606948, rs1652276791, rs2464209193, rs2464112148, rs2464161009, rs2464203249, rs2464209283, rs149128100, rs2464080054, rs1557978852, rs2464204681, rs2464111708, rs886041874, rs2464170715, rs2464114660, rs2464205035, rs2464155152, rs2464079458, rs2464159619, rs2464195486, rs2464112014, rs587615037, rs1433746199, rs2464203420, rs2464115103, rs2464034378, rs2464187735, rs1651455730, rs1650721119, rs1651447610, rs2464114425, rs1282624852, rs2464092239, rs775936961, rs769256568, rs1571013274, rs1398758559, rs1224279673, rs1652276195, rs1650723432, rs1651881638	RCV001377803 RCV001379151 RCV001383227 RCV001382946 RCV001388882 RCV001389517 RCV002554083 RCV001806759 RCV001895959 RCV001928342 RCV001930502 RCV001995115 RCV001950791 RCV001998760 RCV002008301 RCV001898184 RCV002048610 RCV002002351 RCV002038316 RCV001916252 RCV002007439 RCV001939555 RCV001941620 RCV001951277 RCV001951038 RCV001878603 RCV001939702 RCV001958615 RCV002033034 RCV001972772 RCV001915700 RCV002015813 RCV003072758 RCV000004071 RCV000004073 RCV000004074 RCV000004075 RCV003093173 RCV002648196 RCV002644156 RCV002721411 RCV002824507 RCV002833671 RCV002867105 RCV002895129 RCV002947840 RCV003000029 RCV003012523 RCV003038907 RCV001197384 RCV003502859 RCV003503530 RCV003504503 RCV003503307 RCV003609358 RCV003609409 RCV003610170 RCV003610312 RCV003610330 RCV003610451 RCV003608906 RCV003608933 RCV003608841 RCV003609037 RCV003610518 RCV003610567 RCV003610730 RCV003826176 RCV003882749 RCV003989165 RCV000625821 RCV000798475 RCV001380452 RCV001052239 RCV001037635 RCV001172237 RCV001172238 RCV001245690 RCV001239074	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PHGDH-related disorder	Likely pathogenic; Pathogenic	rs121907987	RCV004757095	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs886041874	RCV000415201	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMINO ACID METABOLISM, INBORN ERRORS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR TELANGIECTASIA TYPE 2	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurometabolic disorder due to serine deficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOMYELITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
3-Phosphoglycerate dehydrogenase deficiency	3-phosphoglycerate dehydrogenase deficiency	ORPHANET_DG	11055895		★☆☆☆☆ Found in Text Mining only
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	3-phosphoglycerate dehydrogenase deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Ablepharon	Ablepharon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	27499693		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	25735395, 28614715, 30744688		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28614715, 29556358		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	12955080, 26186212		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	28031410		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	19813097		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	19813097		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32220323	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35508106	Associate	★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	BEFREE	24192396		★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23056579, 30634386		★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	33311513	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	29534964		★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29849117		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23506843		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	21042417		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	20347099		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15536065		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	16757554		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	15878929		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	15878929		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	23229761		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	30250195	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20352489, 21760589, 21804546, 23229761, 24318446, 26750754, 29340974, 29568346, 29875773, 30157431, 30852233, 30905671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21804546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	18703606, 21437235, 24979213, 25406093, 25496516, 30250195, 33112838, 36782224, 36925195, 8955125	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	21804546	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	17267263		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21804546, 36314841, 37327589	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17942902		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	27277113	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	25053597	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	30250195	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30176945, 31615983, 36314841	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30841449	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	25053597	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	27277113	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28713273, 29556358, 29888431, 31504235		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36951402	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	35728000	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	24125036, 30182212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	24125036, 30182212		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	19767586		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32220323	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	39596612	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29687772		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	17942902		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34720086, 36707056, 37544925, 39670663, 39900217	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38317509	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	18252041, 25432924		★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	BEFREE	11055895, 26610677		★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28951458		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Crystalline of Schnyder	Corneal dystrophy	Pubtator	16163269	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	10913957, 17440499, 23378603		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30081202		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	10103045, 3590141		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30180949		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30180949		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28031410		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	21441546		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgerminoma	Dysgerminoma	BEFREE	27862157		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	10103045, 3590141		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	26610677		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32894095, 36803157, 39326337	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28440900		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	25735395		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	25735395		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	40118787	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	28720588, 29873416		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	28666371		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	28666371		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31678070		★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	11576738, 16896070, 20713414		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gelastic Epilepsy	Epilepsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32203214, 37823569, 38098117	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23229761, 28254629		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30726924	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24836451, 28135894		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, Mixed	Gonadal Dysgenesis	BEFREE	24192396, 31816618		★☆☆☆☆ Found in Text Mining only
Gonadoblastoma	Gonadoblastoma	BEFREE	27862157		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37812589	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	17245406, 20529956, 22589249		★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	BEFREE	30158846		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	40118787	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30867055	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32203214, 37823569	Stimulate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27836973, 29019702		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	27836973	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	20629101		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	36782224	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	37812589	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	23374352		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	28122886		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	294840	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26625201, 27270429		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35143932	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	19363144		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31546024, 31615983, 31733289		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	28108177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Neoplasms	Liver neoplasm	Pubtator	30176945	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	29569651		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29569651	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	8639183		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36053251	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	8639183		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	8639183		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	8639183		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	35316216	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20352489, 21760589, 21804546, 23229761, 24318446, 26750754, 29340974, 29568346, 29875773, 30157431, 30852233, 30905671		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21804546		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	25735395		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	28108177		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28713273, 29556358, 29888431, 31504235		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29128633, 30744688, 31112178		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30488457		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21981974, 23229761, 24318446, 25205602, 25719555, 27862157, 28085281, 28254629, 28967906, 29262655, 29556358, 29568346, 29682102, 29888431, 29925909, 30037819, 30250195, 31112178, 31331318, 31733289		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	24125036, 30182212		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21804546		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21804546		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	24318446		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21804546		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 3	Meckel syndrome	BEFREE	24039893		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	27277113		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	21804546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	21804546, 25404730, 25406093, 28500236, 33099398	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	21981974, 23229761, 30905671, 31331318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	30081202		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	34887389	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	24836451, 30619878		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	21441546, 25432924, 28433371, 28433373		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30017355, 30662332	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	618816		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	24076602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28619102		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	33413638	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	11576738, 20221684		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	22348267		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16763664, 20026066, 20153258, 24318446, 24496750, 25719555, 25735395, 27473325, 27862157, 28042046, 29128633, 29556358, 29672864, 29875773, 30037819, 30744688, 30824700, 30905671, 31824150, 7671222		★☆☆☆☆ Found in Text Mining only
Neu-Laxova syndrome	Neu-Laxova Syndrome	BEFREE	15713215, 24836451, 25913727, 26960553, 30838783		★☆☆☆☆ Found in Text Mining only
Neu-Laxova syndrome	Neu-Laxova Syndrome	ORPHANET_DG	24836451		★☆☆☆☆ Found in Text Mining only
Neu-Laxova syndrome	Neu-Laxova Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Neu-Laxova syndrome	Neu-Laxova Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Neu-Laxova syndrome	Neu-Laxova Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
NEU-LAXOVA SYNDROME 1	Neu-Laxova Syndrome	GENOMICS_ENGLAND_DG	11034457, 11494295, 24836451, 25152457		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEU-LAXOVA SYNDROME 1	Neu-Laxova Syndrome	CLINVAR_DG	19235232		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEU-LAXOVA SYNDROME 1	Neu-Laxova Syndrome	UNIPROT_DG	24836451		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEU-LAXOVA SYNDROME 2	Neu-Laxova Syndrome	BEFREE	28222746		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18248328		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	34192988, 36319669	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28940898		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	16740526		★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	16478990		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	26482881		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29574159		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	33413638	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	18664474		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37723556	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31108107		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33503424	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	37533289	Associate	★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29128633, 30744688		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31706267	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	27277113		★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	BEFREE	29414321		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32420915	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phosphoglycerate Dehydrogenase Deficiency	Phosphoglycerate Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	11034457, 19235232, 25152457		★☆☆☆☆ Found in Text Mining only
Phosphoglycerate Dehydrogenase Deficiency	Phosphoglycerate Dehydrogenase Deficiency	CLINVAR_DG	11055895, 11751922, 19235232		★☆☆☆☆ Found in Text Mining only
Phosphoglycerate Dehydrogenase Deficiency	Phosphoglycerate Dehydrogenase Deficiency	UNIPROT_DG	11055895, 19235232		★☆☆☆☆ Found in Text Mining only
Phosphoglycerate Dehydrogenase Deficiency	Phosphoglycerate Dehydrogenase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Phosphoserine Aminotransferase Deficiency	Phosphoserine aminotransferase deficiency	BEFREE	29269105		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	15591452		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GWASCAT_DG	28090653		★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 1	Hyperoxaluria	Pubtator	32077105, 34066864, 37812589	Associate	★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	BEFREE	28440900		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30488457		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34382934	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pterygium	Pterygium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29019702		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28951458		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	33758422	Associate	★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	15713215		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	28720588	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	36053251	Inhibit	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	27862157		★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	BEFREE	28440900		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29888431		★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25735395		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25735395		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36144843, 37192160	Associate	★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Swyer Syndrome	Swyer Syndrome	BEFREE	27862157		★☆☆☆☆ 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
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Feminization	Testicular Feminization	BEFREE	27862157		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	27277113	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	27277113	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	27277113	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24390667, 37559469	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26026368	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27473325, 31630284		★☆☆☆☆ Found in Text Mining only
Trismus	Trismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	28934068		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	20547854		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34418989, 36147463	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24247658	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular Fibrillation	BEFREE	12688594, 16168220, 30066049		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	6950922		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	6950922		★☆☆☆☆ Found in Text Mining only
Waisman syndrome	Waisman syndrome	BEFREE	19909080		★☆☆☆☆ Found in Text Mining only