ALPP (alkaline phosphatase, placental)

Gene

• Entrez ID: 250
• Gene name: Alkaline phosphatase, placental
• Gene symbol: ALPP
• Synonyms (NCBI Gene): ALP, ALPI, IAP, PALP, PLAP, PLAP-1
• Chromosome: 2
• Chromosome location: 2q37.1
• Summary: The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodime

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT779126	hsa-miR-1193	CLIP-seq
MIRT779127	hsa-miR-1207-5p	CLIP-seq
MIRT779128	hsa-miR-1224-3p	CLIP-seq
MIRT779129	hsa-miR-136	CLIP-seq
MIRT779130	hsa-miR-148a	CLIP-seq
MIRT779131	hsa-miR-148b	CLIP-seq
MIRT779132	hsa-miR-152	CLIP-seq
MIRT779133	hsa-miR-1976	CLIP-seq
MIRT779134	hsa-miR-2392	CLIP-seq
MIRT779135	hsa-miR-3152-3p	CLIP-seq
MIRT779136	hsa-miR-3936	CLIP-seq
MIRT779137	hsa-miR-4271	CLIP-seq
MIRT779138	hsa-miR-4454	CLIP-seq
MIRT779139	hsa-miR-4662a-5p	CLIP-seq
MIRT779140	hsa-miR-4676-5p	CLIP-seq
MIRT779141	hsa-miR-4725-3p	CLIP-seq
MIRT779142	hsa-miR-4728-5p	CLIP-seq
MIRT779143	hsa-miR-4736	CLIP-seq
MIRT779144	hsa-miR-4747-5p	CLIP-seq
MIRT779145	hsa-miR-4763-3p	CLIP-seq
MIRT779146	hsa-miR-4795-3p	CLIP-seq
MIRT779147	hsa-miR-5096	CLIP-seq
MIRT779148	hsa-miR-575	CLIP-seq
MIRT1545323	hsa-miR-4292	CLIP-seq
MIRT779126	hsa-miR-1193	CLIP-seq
MIRT779128	hsa-miR-1224-3p	CLIP-seq
MIRT779129	hsa-miR-136	CLIP-seq
MIRT779130	hsa-miR-148a	CLIP-seq
MIRT779131	hsa-miR-148b	CLIP-seq
MIRT779132	hsa-miR-152	CLIP-seq
MIRT779133	hsa-miR-1976	CLIP-seq
MIRT779134	hsa-miR-2392	CLIP-seq
MIRT779135	hsa-miR-3152-3p	CLIP-seq
MIRT1930003	hsa-miR-3622b-5p	CLIP-seq
MIRT779138	hsa-miR-4454	CLIP-seq
MIRT779139	hsa-miR-4662a-5p	CLIP-seq
MIRT779140	hsa-miR-4676-5p	CLIP-seq
MIRT779142	hsa-miR-4728-5p	CLIP-seq
MIRT779147	hsa-miR-5096	CLIP-seq
MIRT779148	hsa-miR-575	CLIP-seq
MIRT1930004	hsa-miR-637	CLIP-seq
MIRT2170743	hsa-miR-106a	CLIP-seq
MIRT2170744	hsa-miR-106b	CLIP-seq
MIRT779126	hsa-miR-1193	CLIP-seq
MIRT779128	hsa-miR-1224-3p	CLIP-seq
MIRT2170745	hsa-miR-1234	CLIP-seq
MIRT779129	hsa-miR-136	CLIP-seq
MIRT779130	hsa-miR-148a	CLIP-seq
MIRT779131	hsa-miR-148b	CLIP-seq
MIRT2170746	hsa-miR-150	CLIP-seq
MIRT779132	hsa-miR-152	CLIP-seq
MIRT2170747	hsa-miR-17	CLIP-seq
MIRT2170748	hsa-miR-188-3p	CLIP-seq
MIRT779133	hsa-miR-1976	CLIP-seq
MIRT2170749	hsa-miR-20a	CLIP-seq
MIRT2170750	hsa-miR-20b	CLIP-seq
MIRT779134	hsa-miR-2392	CLIP-seq
MIRT2170751	hsa-miR-302a	CLIP-seq
MIRT2170752	hsa-miR-302b	CLIP-seq
MIRT2170753	hsa-miR-302c	CLIP-seq
MIRT2170754	hsa-miR-302d	CLIP-seq
MIRT2170755	hsa-miR-302e	CLIP-seq
MIRT779135	hsa-miR-3152-3p	CLIP-seq
MIRT1930003	hsa-miR-3622b-5p	CLIP-seq
MIRT2170756	hsa-miR-372	CLIP-seq
MIRT2170757	hsa-miR-373	CLIP-seq
MIRT2170758	hsa-miR-3977	CLIP-seq
MIRT779138	hsa-miR-4454	CLIP-seq
MIRT779139	hsa-miR-4662a-5p	CLIP-seq
MIRT779140	hsa-miR-4676-5p	CLIP-seq
MIRT2170759	hsa-miR-4731-5p	CLIP-seq
MIRT2170760	hsa-miR-512-3p	CLIP-seq
MIRT2170761	hsa-miR-519d	CLIP-seq
MIRT2170762	hsa-miR-520a-3p	CLIP-seq
MIRT2170763	hsa-miR-520b	CLIP-seq
MIRT2170764	hsa-miR-520c-3p	CLIP-seq
MIRT2170765	hsa-miR-520d-3p	CLIP-seq
MIRT2170766	hsa-miR-520d-5p	CLIP-seq
MIRT2170767	hsa-miR-520e	CLIP-seq
MIRT2170768	hsa-miR-520g	CLIP-seq
MIRT2170769	hsa-miR-520h	CLIP-seq
MIRT2170770	hsa-miR-524-5p	CLIP-seq
MIRT2170771	hsa-miR-539	CLIP-seq
MIRT2170772	hsa-miR-552	CLIP-seq
MIRT779148	hsa-miR-575	CLIP-seq
MIRT2170773	hsa-miR-580	CLIP-seq
MIRT2170774	hsa-miR-93	CLIP-seq
MIRT2443586	hsa-miR-1827	CLIP-seq
MIRT2443587	hsa-miR-2467-3p	CLIP-seq
MIRT2443588	hsa-miR-3121-5p	CLIP-seq
MIRT2443589	hsa-miR-4659a-5p	CLIP-seq
MIRT2443590	hsa-miR-4659b-5p	CLIP-seq
MIRT2443591	hsa-miR-4776-3p	CLIP-seq
MIRT2443592	hsa-miR-720	CLIP-seq
MIRT2443586	hsa-miR-1827	CLIP-seq
MIRT779130	hsa-miR-148a	CLIP-seq
MIRT779131	hsa-miR-148b	CLIP-seq
MIRT779132	hsa-miR-152	CLIP-seq
MIRT2443586	hsa-miR-1827	CLIP-seq
MIRT2473439	hsa-miR-3679-3p	CLIP-seq
MIRT2473440	hsa-miR-4446-5p	CLIP-seq
MIRT2443592	hsa-miR-720	CLIP-seq
MIRT2473439	hsa-miR-3679-3p	CLIP-seq
MIRT2473440	hsa-miR-4446-5p	CLIP-seq
MIRT2443592	hsa-miR-720	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	ISS
GO:0004035	Function	Alkaline phosphatase activity	IBA
GO:0004035	Function	Alkaline phosphatase activity	IDA	1939159, 2017684, 2133555
GO:0004035	Function	Alkaline phosphatase activity	IEA
GO:0004035	Function	Alkaline phosphatase activity	NAS	3042787
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0008270	Function	Zinc ion binding	ISS
GO:0009986	Component	Cell surface	IDA	15907827
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0098552	Component	Side of membrane	IEA

Other IDs

• MIM: 171800
• HGNC: 439
• e!Ensembl: ENSG00000163283

Protein

• UniProt ID: P05187
• Protein name: Alkaline phosphatase, placental type (EC 3.1.3.1) (Alkaline phosphatase Regan isozyme) (Placental alkaline phosphatase 1) (PLAP-1)
• Protein function: Alkaline phosphatase that can hydrolyze various phosphate compounds.
• PDB: 1EW2, 1ZEB, 1ZED, 1ZEF, 2GLQ, 3MK0, 3MK1, 3MK2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00245	Alk_phosphatase	55 → 490	Alkaline phosphatase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in placenta (at protein level). {ECO:0000269|PubMed:20693656}.
• Sequence:

  MLGPCMLLLLLLLGLRLQLSLGIIPVEEENPDFWNREAAEALGAAKKLQPAQTAAKNLII
  FLGDGMGVSTVTAARILKGQKKDKLGPEIPLAMDRFPYVALSKTYNVDKHVPDSGATATA
  YLCGVKGNFQTIGLSAAARFNQCNTTRGNEVISVMNRAKKAGKSVGVVTTTRVQHASPAG
  TYAHTVNRNWYSDADVPASARQEGCQDIATQLISNMDIDVILGGGRKYMFRMGTPDPEYP
  DDYSQGGTRLDGKNLVQEWLAKRQGARYVWNRTELMQASLDPSVTHLMGLFEPGDMKYEI
  HRDSTLDPSLMEMTEAALRLLSRNPRGFFLFVEGGRIDHGHHESRAYRALTETIMFDDAI
  ERAGQLTSEEDTLSLVTADHSHVFSFGGYPLRGSSIFGLAPGKARDRKAYTVLLYGNGPG
  YVLKDGARPDVTESESGSPEYRQQSAVPLDEETHAGEDVAVFARGPQAHLVHGVQEQTFI
  AHVMAFAACLEPYTACDLAPPAGTTDAAHPGRSVVPALLPLLAGTLLLLETATAP

• Sequence length: 535

Pathways

KEGG:

Thiamine metabolism
Folate biosynthesis
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Intra-Golgi traffic

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-3 POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	BEFREE	29895074		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	26944210		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	20299817		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	10571045		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	19352053	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26944210		★☆☆☆☆ Found in Text Mining only
Adult hypophosphatasia (disorder)	Hypophosphatasia	BEFREE	15629439		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30290707, 31690171		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	12153481		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	9883800	Stimulate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	35855023	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29880011, 30415492		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	35951069	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37662902	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30737985	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	30920104	Inhibit	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	29973151	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	18177647		★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	30599794		★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	LHGDN	18752324		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	20119625, 28139689		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	27881006		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	30728842		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	35941659	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	30123093		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28900285, 29721043, 30706358		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19563669, 27150055, 27334837, 30679450, 34224831, 7945240	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	16505034, 17591888, 20723612, 27353274, 27495942, 30679450, 35951069	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12810637		★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	34363325	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25152598, 29776350, 31628070, 40323083	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	20119625, 28139689		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12384799, 17229588, 20804919, 28835603, 29683727, 3325192		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31391026	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	16081252, 17922292	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	3325192		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	20723612, 22796508	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31302425		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31568963, 40334645	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	29223554		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	25168470, 26242403		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	25168470, 26242403		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	26944210		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34363325	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	30730351	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	28267673		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	31628070	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis, Extrahepatic	Cholestasis	BEFREE	31117415		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	2745460, 30400387, 8703954		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30754998		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30125307		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	22783049	Inhibit	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	1596896, 25037223, 9221854		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19302291, 31289894		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19686745, 25037223, 27520705, 32453965, 33660894, 34363325, 34797333	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33507690	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	Pubtator	19352053	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19373952		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	27806633		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	21614585, 23622397		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24909115, 25241253, 9119739		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	17498884		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	18045591	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	22783049		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	22783049	Inhibit	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	28103724, 30558547, 35872023	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	10571045		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	36669962	Associate	★☆☆☆☆ Found in Text Mining only
Dentin dysplasia type 1	Dentin dysplasia	Pubtator	32737282	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	17077152	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	24417746	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Dysplasia of the Hip	Developmental dysplasia of the hip	Pubtator	33413534	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31086953		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	24566377, 27353274	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31086953		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26400360	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31088856, 31915470	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31088856		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	24276437		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	28454919, 31658881, 31671940		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34363325, 7515261	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25376458		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	11547844	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	11121210		★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	20720444		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31010354		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	25919795, 29174446		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	30954995		★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	Pubtator	31075877, 32163230	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	2745460		★☆☆☆☆ Found in Text Mining only
Gilbert Disease	Gilbert syndrome	Pubtator	2318988	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	12027563		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	17591888	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23538445, 30385739		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30385739, 30920104	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23538445, 30385739		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	32772198	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26577411	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	16304383, 21960246, 24487414, 29067538		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	19373952		★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	16867159	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	9883800	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	20118060	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	35765099	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	31838773		★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	17395561, 26797772, 28436937, 30289311, 31146036		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	15967379, 30290707		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	17395561, 28687737		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	26783040	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28917868		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	28687737, 30289299		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	32790806	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	18661088, 3665125		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	18661088		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	BEFREE	10451522, 10679946, 24022022, 2605956, 2705456, 28000043, 28436937, 30289311, 3174660, 7706447, 8964842		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	11547844, 22014174, 2220817, 22703652, 24022022, 25396326, 25736332, 2705456, 29724887, 31787692, 31793067, 33827627, 33844893, 34711245, 34854399, 35229197, 35878747, 36820543, 37107680, 37839783, 38234425, 38307176, 677124	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	19335222, 22322541, 24123110, 26783040, 30764793, 32066479, 32772198	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypophosphatasia Adult	Hypophosphatasia	Pubtator	31267001, 35498405	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25889814	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23492187		★☆☆☆☆ Found in Text Mining only
Infantile hypophosphatasia	Hypophosphatasia	BEFREE	12412800, 15660230		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	38274228	Inhibit	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22783049, 29567797		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	22783049, 29567797, 30730351	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	18940312, 29567797	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	18661088		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	28808392		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	31760208		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	40334645	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19298593, 24487414		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	27732563, 30810468	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31831875	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15380346, 20804919, 27869161		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	Pubtator	36139135	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, well differentiated	liposarcoma	BEFREE	20804919		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24175757, 25369784, 26753954, 28036295		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29538440, 30125307		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Alcoholic	Liver cirrhosis	Pubtator	34033144	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	30709684	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	37839783	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	31141540, 31628070	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	31838773		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	9058095	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	BEFREE	30754998		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	24487414		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	27732563	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	20804919		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Syndrome, X-Linked, 2	Lymphoproliferative Disorder	BEFREE	29743550		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28900285, 29721043, 30706358		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	24143229		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31117415		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12384799, 17229588, 28835603, 29683727, 3325192		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	3325192		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20720442, 20720444, 20720447, 22213040		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18976018, 20698994, 25071009, 28981528, 31028291		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24143229		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	20119625, 28139689		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15068902, 15611788, 17573556, 18068526, 18336193, 18931663, 18931692, 19298593, 20299817, 22342104, 24704827, 27424523, 28215531, 28771230, 29371939, 29569123, 30385275, 31176273, 31645676		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	25168470, 26242403		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	1596896, 25037223, 9221854		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	14735472, 17168540, 20576118, 22853455		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32081986	Associate	★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Microvillus inclusion disease	Pubtator	16081252	Inhibit	★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	24296104		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	30197328	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	1906605, 26036313		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27494845	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	11238905		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	15380346		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	29749399		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28881589		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	31837116		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	31568963	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	31915470	Inhibit	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	17077152	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	21549096		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	21549096		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18953427, 20576118		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10959091, 12591734, 1596896, 16327988, 18336193, 20299817, 20698994, 21118954, 21692598, 24175757, 25119103, 26242403, 26956263, 27129149, 28665401, 29465464, 30496798, 31173249, 3325192, 7597142, 9256286		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	17395561		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26575016		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31690171		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	26270641, 29964102		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24094242	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29438631	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	19215023	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20723612, 34502489	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	31486477	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	18661088, 28620614, 29786747, 30338786, 30638953, 31452264		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	31486477, 31858576, 32016954, 35188450, 35650135, 37662902	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	17218775, 22333159, 25396326, 26960368, 39768988	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27129149, 28122543		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33797312	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	26242403	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	3325192		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24280306, 25356865, 27802199, 34363325, 3548400, 36139135, 3906119	Associate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	30400387		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20720442, 20720444, 20720447, 22213040		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma, familial	Pancreatic carcinoma	BEFREE	18497537		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21714853, 31391026	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	30298589		★☆☆☆☆ Found in Text Mining only
Pleomorphic Lipoma	Lipoma	BEFREE	10959091		★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	Pubtator	37750370	Associate	★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	Pubtator	17077152	Associate	★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	14687829, 29193593, 31714880		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	29749399		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	18455129	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20698994, 25071009, 28981528, 31028291		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30568232	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33507690	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	39223457	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	30864863		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24909115, 25241253, 9119739		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	24704827		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12846052, 30864863		★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	BEFREE	25753363		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	BEFREE	25753363		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	1697556, 2781220	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	3325192		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	34363325	Stimulate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	8552191		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	36803548	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31366234, 38490621	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31010354		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24143229		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17172820, 34363325, 9548446	Associate	★☆☆☆☆ Found in Text Mining only
Subcortical Band Heterotopia	Subcortical Band Heterotopia	BEFREE	30643535		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	26306513		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	34363325	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	28589091		★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	29546655, 29569123		★☆☆☆☆ Found in Text Mining only
TROPICAL CALCIFIC PANCREATITIS	TROPICAL CALCIFIC PANCREATITIS	BEFREE	29269312		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	17498884		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	22783049		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	25736332		★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	28808392		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25168470, 36139135	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	18853322		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	23518467, 24441913, 29566379, 29973151, 32722241	Associate	★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	30599794		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg Syndrome	BEFREE	1349198		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg syndrome	Pubtator	1349198	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum variant type	Xeroderma pigmentosum	Pubtator	40141433	Associate	★☆☆☆☆ Found in Text Mining only