PRKD1 (protein kinase D1)

Gene

• Entrez ID: 5587
• Gene name: Protein kinase D1
• Gene symbol: PRKD1
• Synonyms (NCBI Gene): CHDED, PKC-MU, PKCM, PKD, PRKCM
• Chromosome: 14
• Chromosome location: 14q12
• Summary: The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3 (ERK1/2) pa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519635	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519636	A>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1439477100	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052152	hsa-let-7b-5p	CLASH	23622248
MIRT572969	hsa-miR-4645-5p	PAR-CLIP	20371350
MIRT572968	hsa-miR-4673	PAR-CLIP	20371350
MIRT572967	hsa-miR-766-3p	PAR-CLIP	20371350
MIRT572966	hsa-miR-3925-3p	PAR-CLIP	20371350
MIRT572964	hsa-miR-6837-3p	PAR-CLIP	20371350
MIRT572965	hsa-miR-942-5p	PAR-CLIP	20371350
MIRT572963	hsa-miR-6740-3p	PAR-CLIP	20371350
MIRT572962	hsa-miR-515-5p	PAR-CLIP	20371350
MIRT572961	hsa-miR-519e-5p	PAR-CLIP	20371350
MIRT572969	hsa-miR-4645-5p	PAR-CLIP	20371350
MIRT572968	hsa-miR-4673	PAR-CLIP	20371350
MIRT572967	hsa-miR-766-3p	PAR-CLIP	20371350
MIRT572966	hsa-miR-3925-3p	PAR-CLIP	20371350
MIRT572964	hsa-miR-6837-3p	PAR-CLIP	20371350
MIRT572965	hsa-miR-942-5p	PAR-CLIP	20371350
MIRT572963	hsa-miR-6740-3p	PAR-CLIP	20371350
MIRT572962	hsa-miR-515-5p	PAR-CLIP	20371350
MIRT572961	hsa-miR-519e-5p	PAR-CLIP	20371350
MIRT1263463	hsa-miR-1206	CLIP-seq
MIRT1263464	hsa-miR-124	CLIP-seq
MIRT1263465	hsa-miR-128	CLIP-seq
MIRT1263466	hsa-miR-183	CLIP-seq
MIRT1263467	hsa-miR-323-3p	CLIP-seq
MIRT1263468	hsa-miR-34a	CLIP-seq
MIRT1263469	hsa-miR-34c-5p	CLIP-seq
MIRT1263470	hsa-miR-3714	CLIP-seq
MIRT1263471	hsa-miR-3910	CLIP-seq
MIRT1263472	hsa-miR-4263	CLIP-seq
MIRT1263473	hsa-miR-449a	CLIP-seq
MIRT1263474	hsa-miR-449b	CLIP-seq
MIRT1263475	hsa-miR-450b-5p	CLIP-seq
MIRT1263476	hsa-miR-4521	CLIP-seq
MIRT1263477	hsa-miR-506	CLIP-seq
MIRT1263478	hsa-miR-518a-5p	CLIP-seq
MIRT1263479	hsa-miR-527	CLIP-seq
MIRT1263480	hsa-miR-548a-3p	CLIP-seq
MIRT1263481	hsa-miR-548an	CLIP-seq
MIRT1263482	hsa-miR-548e	CLIP-seq
MIRT1263483	hsa-miR-548f	CLIP-seq
MIRT1263484	hsa-miR-576-5p	CLIP-seq
MIRT1263485	hsa-miR-586	CLIP-seq
MIRT2077571	hsa-miR-335	CLIP-seq
MIRT2077572	hsa-miR-587	CLIP-seq
MIRT2304089	hsa-miR-1827	CLIP-seq
MIRT1263468	hsa-miR-34a	CLIP-seq
MIRT1263469	hsa-miR-34c-5p	CLIP-seq
MIRT1263473	hsa-miR-449a	CLIP-seq
MIRT1263474	hsa-miR-449b	CLIP-seq
MIRT2304090	hsa-miR-4514	CLIP-seq
MIRT2304091	hsa-miR-4692	CLIP-seq
MIRT2304092	hsa-miR-4717-3p	CLIP-seq
MIRT2304093	hsa-miR-4733-3p	CLIP-seq
MIRT2304094	hsa-miR-4742-5p	CLIP-seq
MIRT2304095	hsa-miR-549	CLIP-seq
MIRT2304096	hsa-miR-940	CLIP-seq
MIRT1263463	hsa-miR-1206	CLIP-seq
MIRT2457181	hsa-miR-141	CLIP-seq
MIRT2457182	hsa-miR-200a	CLIP-seq
MIRT2457183	hsa-miR-376a	CLIP-seq
MIRT2457184	hsa-miR-376b	CLIP-seq
MIRT2457185	hsa-miR-4773	CLIP-seq
MIRT2457186	hsa-miR-875-3p	CLIP-seq
MIRT1263465	hsa-miR-128	CLIP-seq
MIRT2601019	hsa-miR-2052	CLIP-seq
MIRT2601020	hsa-miR-2276	CLIP-seq
MIRT1263468	hsa-miR-34a	CLIP-seq
MIRT1263469	hsa-miR-34c-5p	CLIP-seq
MIRT2601021	hsa-miR-3692	CLIP-seq
MIRT2601022	hsa-miR-3924	CLIP-seq
MIRT2601023	hsa-miR-4277	CLIP-seq
MIRT1263473	hsa-miR-449a	CLIP-seq
MIRT1263474	hsa-miR-449b	CLIP-seq
MIRT2601024	hsa-miR-4708-3p	CLIP-seq
MIRT2601025	hsa-miR-4772-3p	CLIP-seq
MIRT2601026	hsa-miR-514	CLIP-seq
MIRT2601027	hsa-miR-514b-3p	CLIP-seq
MIRT2601028	hsa-miR-544	CLIP-seq
MIRT1263465	hsa-miR-128	CLIP-seq
MIRT2601019	hsa-miR-2052	CLIP-seq
MIRT2601020	hsa-miR-2276	CLIP-seq
MIRT1263468	hsa-miR-34a	CLIP-seq
MIRT1263469	hsa-miR-34c-5p	CLIP-seq
MIRT2601021	hsa-miR-3692	CLIP-seq
MIRT2601022	hsa-miR-3924	CLIP-seq
MIRT2601023	hsa-miR-4277	CLIP-seq
MIRT1263473	hsa-miR-449a	CLIP-seq
MIRT1263474	hsa-miR-449b	CLIP-seq
MIRT2601024	hsa-miR-4708-3p	CLIP-seq
MIRT2601025	hsa-miR-4772-3p	CLIP-seq
MIRT2601026	hsa-miR-514	CLIP-seq
MIRT2601027	hsa-miR-514b-3p	CLIP-seq
MIRT2601028	hsa-miR-544	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000421	Component	Autophagosome membrane	IDA	22095288
GO:0001525	Process	Angiogenesis	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IGI	20497126
GO:0002376	Process	Immune system process	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	18440775, 22095288
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IMP	28428613
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	8119958
GO:0004697	Function	Diacylglycerol-dependent serine/threonine kinase activity	IDA	12637538
GO:0004697	Function	Diacylglycerol-dependent serine/threonine kinase activity	IEA
GO:0004697	Function	Diacylglycerol-dependent serine/threonine kinase activity	TAS
GO:0005080	Function	Protein kinase C binding	IEA
GO:0005515	Function	Protein binding	IPI	10831594, 12893243, 14550308, 15695390, 18509061, 19135240, 22095288, 22939624, 22981988, 24623306
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	11239398
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	19211839
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS	10856238
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10856238
GO:0005911	Component	Cell-cell junction	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007030	Process	Golgi organization	IMP	19211839
GO:0007165	Process	Signal transduction	TAS	8119958
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	TAS	21488147
GO:0007399	Process	Nervous system development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010508	Process	Positive regulation of autophagy	IMP	22095288
GO:0010595	Process	Positive regulation of endothelial cell migration	IMP	18332134
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010837	Process	Regulation of keratinocyte proliferation	IEA
GO:0010837	Process	Regulation of keratinocyte proliferation	ISS
GO:0010976	Process	Positive regulation of neuron projection development	IMP	19211839
GO:0014723	Process	Regulation of skeletal muscle contraction by modulation of calcium ion sensitivity of myofibril	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IDA	24623306
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030018	Component	Z disc	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0030154	Process	Cell differentiation	IEA
GO:0031072	Function	Heat shock protein binding	IEA
GO:0034198	Process	Cellular response to amino acid starvation	IMP	22095288
GO:0034599	Process	Cellular response to oxidative stress	IDA	12505989
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	IMP	18059339, 18440775
GO:0035924	Process	Cellular response to vascular endothelial growth factor stimulus	IGI	20497126
GO:0035924	Process	Cellular response to vascular endothelial growth factor stimulus	IMP	18059339, 18332134, 18440775
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042802	Function	Identical protein binding	IPI	10831594
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	12505989
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IGI	20497126
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IMP	18440775
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IDA	18593713
GO:0045087	Process	Innate immune response	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	ISS
GO:0045766	Process	Positive regulation of angiogenesis	IGI	20497126
GO:0045766	Process	Positive regulation of angiogenesis	IMP	18332134, 18440775
GO:0045793	Process	Positive regulation of cell size	IEA
GO:0045806	Process	Negative regulation of endocytosis	TAS	21488147
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	20497126
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	18059339
GO:0046777	Process	Protein autophosphorylation	IDA	24623306
GO:0046827	Process	Positive regulation of protein export from nucleus	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IGI	20497126
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IMP	18059339, 18440775
GO:0048193	Process	Golgi vesicle transport	IEA
GO:0048193	Process	Golgi vesicle transport	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IEA
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	12505989
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	22095288
GO:0060298	Process	Positive regulation of sarcomere organization	IEA
GO:0070633	Process	Transepithelial transport	IDA	34969853
GO:0070633	Process	Transepithelial transport	IDA	34969853
GO:0071447	Process	Cellular response to hydroperoxide	IMP	22095288
GO:0071873	Process	Response to norepinephrine	IEA
GO:0071874	Process	Cellular response to norepinephrine stimulus	IEA
GO:0090277	Process	Positive regulation of peptide hormone secretion	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106310	Function	Protein serine kinase activity	IGI	20497126
GO:0141038	Function	Phosphatidylinositol 3-kinase activator activity	IDA	22095288
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	IEA
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	ISS
GO:1904385	Process	Cellular response to angiotensin	IEA
GO:1904628	Process	Cellular response to phorbol 13-acetate 12-myristate	IEA
GO:1990859	Process	Cellular response to endothelin	IEA
GO:2001028	Process	Positive regulation of endothelial cell chemotaxis	IGI	20497126
GO:2001028	Process	Positive regulation of endothelial cell chemotaxis	IMP	18440775
GO:2001044	Process	Regulation of integrin-mediated signaling pathway	TAS	21488147

Other IDs

• MIM: 605435
• HGNC: 9407
• e!Ensembl: ENSG00000184304

Protein

• UniProt ID: Q15139
• Protein name: Serine/threonine-protein kinase D1 (EC 2.7.11.13) (Protein kinase C mu type) (Protein kinase D) (nPKC-D1) (nPKC-mu)
• Protein function: Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of MAPK8/JNK1 and Ras signaling, Golgi membrane integrity and traffick
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00130	C1_1	147 → 198	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
  PF00130	C1_1	271 → 323	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
  PF00169	PH	423 → 541	PH domain	Domain
  PF00069	Pkinase	584 → 839	Protein kinase domain	Domain

• Sequence:

  MSAPPVLRPPSPLLPVAAAAAAAAAALVPGSGPGPAPFLAPVAAPVGGISFHLQIGLSRE
  PVLLLQDSSGDYSLAHVREMACSIVDQKFPECGFYGMYDKILLFRHDPTSENILQLVKAA
  SDIQEGDLIEVVLSASATFEDFQIRPHALFVHSYRAPAFCDHCGEMLWGLVRQGLKCEGC
  GLNYHKRCAFKIPNNCSGVRRRRLSNVSLTGVSTIRTSSAELSTSAPDEPLLQKSPSESF
  IGREKRSNSQSYIGRPIHLDKILMSKVKVPHTFVIHSYTRPTVCQYCKKLLKGLFRQGLQ
  CKDCRFNCHKRCAPKVPNNCLGEVTINGDLLSPGAESDVVMEEGSDDNDSERNSGLMDDM
  EEAMVQDAEMAMAECQNDSGEMQDPDPDHEDANRTISPSTSNNIPLMRVVQSVKHTKRKS
  STVMKEGWMVHYTSKDTLRKRHYWRLDSKCITLFQNDTGSRYYKEIPLSEILSLEPVKTS
  ALIPNGANPHCFEITTANVVYYVGENVVNPSSPSPNNSVLTSGVGADVARMWEIAIQHAL
  MPVIPKGSSVGTGTNLHRDISVSISVSNCQIQENVDISTVYQIFPDEVLGSGQFGIVYGG
  KHRKTGRDVAIKIIDKLRFPTKQESQLRNEVAILQNLHHPGVVNLECMFETPERVFVVME
  KLHGDMLEMILSSEKGRLPEHITKFLITQILVALRHLHFKNIVHCDLKPENVLLASADPF
  PQVKLCDFGFARIIGEKSFRRSVVGTPAYLAPEVLRNKGYNRSLDMWSVGVIIYVSLSGT
  FPFNEDEDIHDQIQNAAFMYPPNPWKEISHEAIDLINNLLQVKMRKRYSVDKTLSHPWLQ
  DYQTWLDLRELECKIGERYITHESDDLRWEKYAGEQGLQYPTHLINPSASHSDTPETEET
  EMKALGERVSIL

• Sequence length: 912

Pathways

KEGG:

Rap1 signaling pathway
Aldosterone synthesis and secretion
Chemical carcinogenesis - reactive oxygen species

Reactome:

Sphingolipid de novo 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
Congenital heart defects and ectodermal dysplasia	Likely pathogenic; Pathogenic	rs2139090218, rs2502849610, rs1057519635, rs1057519636, rs1439477100	RCV002254370 RCV003988983 RCV000417214 RCV000417210 RCV000989200	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA, OCCUPATIONAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS, MULTIPLE TYPE S	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRKD1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute pancreatitis	Pancreatitis	BEFREE	29270134		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	25240283, 25367945, 26426580, 29076877, 29266837		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	25240283		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30820786		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	25240283		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	25240283		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	25240283		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	29266837		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	29266837		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GWASCAT_DG	28196072		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28360038		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	29266837		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	31809526		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	27504716	Associate	★☆☆☆☆ Found in Text Mining only
Asthma, Occupational	Asthma	CTD_human_DG	27504716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	12925574, 14872199, 19176689, 22718539, 24009235, 26139440, 31427367		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29071385		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19243594, 23393329, 25287328, 26895471, 28186980, 29796183, 30845378, 31676574		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19243594	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23944680, 25287328	Associate	★☆☆☆☆ Found in Text Mining only
Bruton type agammaglobulinemia	Bruton type agammaglobulinemia	Pubtator	10561498	Associate	★☆☆☆☆ Found in Text Mining only
Burnett Schwartz Berberian syndrome	Burnett schwartz berberian syndrome	Pubtator	25000413	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31819177	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	16899224	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29071385		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	29266837	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29071385		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	23950933		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27649783, 28360038, 31819177	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20459627	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	25240283		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	25240283		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	37972803	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	23376035, 23971832		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28174535		★☆☆☆☆ Found in Text Mining only
Carotid Artery, Internal, Dissection	Carotid artery disease	BEFREE	31703639		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36231050	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 3	Kidney Disease	BEFREE	17699277, 30286208		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	17185137		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27127886		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	18607645, 18997107, 31427367		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25149539		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	21278247		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24634417		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	21278247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24475022, 30451989, 37225445	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA	Congenital heart defects and ectodermal dysplasia	GENOMICS_ENGLAND_DG	25529582		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA	Congenital heart defects and ectodermal dysplasia	UNIPROT_DG	27479907		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA	Congenital heart defects and ectodermal dysplasia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA	Congenital heart defects and ectodermal dysplasia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congestive heart failure	Congestive Heart Failure	BEFREE	18218981, 19914852, 21694639, 22260707, 23376035, 29452776		★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	17185137		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	BEFREE	11802303		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	10655152, 16565258, 22031115, 25000413, 28701314		★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	18434273, 20558538, 23423256		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	18434273, 20558538, 8597639		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31806974		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31346174		★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	27649783	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	10323309, 11346027		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	10323309, 11346027, 15723088, 22399141, 23543593, 28148532, 29033332, 30523303, 31119048		★☆☆☆☆ Found in Text Mining only
Fahr's disease	Fahr's disease	Pubtator	39740729	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	30389661		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21727210, 23562655		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21727210, 23562655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	15842253	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	24086448	Associate	★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	30582878		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome, Familial	Guillain-Barre Syndrome	BEFREE	30582878		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	27479907, 33919081	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	18218981, 22260707, 23376035, 29452776		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	33919081	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	BEFREE	12925574		★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	18607645		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29038309		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	17699277, 24779394, 25022529, 31804334		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30896865	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	25000413		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	25000413	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	34858418	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	23971832		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31517390		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	19914852, 28825164, 30286208, 30644092		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	17185137		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26683365, 31167779		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31167779		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37225445	Associate	★☆☆☆☆ Found in Text Mining only
Malignant epithelial tumor of salivary glands	Malignant epithelial tumor of salivary glands	Orphanet			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19243594, 23393329, 25287328, 25852060, 26895471, 28186980, 29796183, 30845378, 31676574		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	23950933		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27649783, 28360038, 28361035, 29058231, 31819177		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12859948, 15695390, 17979146, 18602367, 22797919, 26764245, 27255895, 28077787, 29108267, 30841931, 31477269		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	25240283		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29071385		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21680539, 22532599, 25578563, 26683365, 28174535, 28577984, 29058231, 30018032, 30419840, 30896865, 30997696, 31131745, 31816397		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25149539, 29108267		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23971832, 25287328, 29796183, 30845378		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21993564, 35969127	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	28056869		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	12786795, 14504085	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	32799769	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31607475		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	17494074	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20940406, 23503467, 23621299, 23874489, 23971832, 24336522, 25149539, 25240283, 28186980, 28577984, 29901206, 30841931, 30843621, 30958903, 31167779, 31492931, 31816397		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	22399141		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29273751		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25578563		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	23971832		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25893265, 33491310	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	30389661		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27649783, 28360038, 28361035, 29058231, 31819177		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27649783		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20082306, 24336522, 24847910, 27649783, 28360038, 31819177	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	29270134		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24806360, 26230914, 28376279		★☆☆☆☆ Found in Text Mining only
Paroxysmal kinesigenic choreoathetosis	Paroxysmal kinesigenic choreoathetosis	BEFREE	10323309, 11346027, 22399141		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	26632257	Associate	★☆☆☆☆ Found in Text Mining only
POLYCYSTIC KIDNEY DISEASE 1	Polycystic kidney disease	BEFREE	20082306, 24806360, 27199453		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	15563610, 15723088, 18607645, 22034641, 22333914, 22669842, 23326503, 23456819, 24506938, 25519866, 25646624, 28154010, 28271061, 29033332, 29717938, 30042193, 31260458, 9889186		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	10364515, 10655152, 11287778, 16449663, 17699277, 18721488, 21625823, 23032260, 23326503, 23376035, 23524344, 2370053, 24506938, 24694054, 24821069, 25361818, 25519866, 25877301, 25915482, 26139440, 26632257, 27484667, 28194574, 28205547, 28616208, 28927462, 29169385, 29306517, 29513071, 29529603, 30230107, 30333007, 30600104, 30799240, 31056860, 31260458, 31515477, 8261645		★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	BEFREE	25915482		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12859948, 15695390, 17979146, 18602367, 22797919, 26764245, 27255895, 28077787, 29108267, 30841931, 31477269		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12859948, 14550308, 17979146, 18602367		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17979146, 18602367, 20160036, 22797919, 24086585, 28077787, 31167779, 35595103, 37611675	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18602367, 26764245	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	29465084		★☆☆☆☆ Found in Text Mining only
Psychosexual dysfunction	Psychosexual Dysfunction	GWASCAT_DG	22445761		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	25240283		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	26426580, 31917707, 33878706	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	25056061, 26198764, 30285260, 31268507, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	25544765		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	39740729	Associate	★☆☆☆☆ Found in Text Mining only
Sexual Dysfunction	Sexual Dysfunction	GWASCAT_DG	22445761		★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	BEFREE	21146605, 26718059		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23621299		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32319563	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30419840		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30389661		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29796183, 30845378		★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	25713110		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	17185137, 25519866, 9306341		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	31819177	Associate	★☆☆☆☆ Found in Text Mining only