GP1BB (glycoprotein Ib platelet subunit beta)

Gene

• Entrez ID: 2812
• Gene name: Glycoprotein Ib platelet subunit beta
• Gene symbol: GP1BB
• Synonyms (NCBI Gene): BDPLT1, BS, CD42C, GPIBB, GPIbbeta
• Chromosome: 22
• Chromosome location: 22q11.21
• Summary: Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediat

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029354	hsa-miR-26b-5p	Microarray	19088304
MIRT1027936	hsa-miR-1254	CLIP-seq
MIRT1027937	hsa-miR-150	CLIP-seq
MIRT1027938	hsa-miR-3116	CLIP-seq
MIRT1027939	hsa-miR-3189-5p	CLIP-seq
MIRT1027940	hsa-miR-4758-3p	CLIP-seq
MIRT1027937	hsa-miR-150	CLIP-seq
MIRT1027939	hsa-miR-3189-5p	CLIP-seq
MIRT1027940	hsa-miR-4758-3p	CLIP-seq
MIRT2004918	hsa-miR-1207-5p	CLIP-seq
MIRT1027937	hsa-miR-150	CLIP-seq
MIRT2004919	hsa-miR-296-5p	CLIP-seq
MIRT1027939	hsa-miR-3189-5p	CLIP-seq
MIRT2004920	hsa-miR-4433	CLIP-seq
MIRT2004921	hsa-miR-4469	CLIP-seq
MIRT2004922	hsa-miR-4634	CLIP-seq
MIRT2004923	hsa-miR-4655-3p	CLIP-seq
MIRT2004924	hsa-miR-4722-5p	CLIP-seq
MIRT2004925	hsa-miR-4749-3p	CLIP-seq
MIRT1027940	hsa-miR-4758-3p	CLIP-seq
MIRT2004926	hsa-miR-4763-3p	CLIP-seq
MIRT2004927	hsa-miR-541	CLIP-seq
MIRT2004928	hsa-miR-654-5p	CLIP-seq
MIRT1027937	hsa-miR-150	CLIP-seq
MIRT1027939	hsa-miR-3189-5p	CLIP-seq
MIRT2004920	hsa-miR-4433	CLIP-seq
MIRT2004921	hsa-miR-4469	CLIP-seq
MIRT2004923	hsa-miR-4655-3p	CLIP-seq
MIRT2004924	hsa-miR-4722-5p	CLIP-seq
MIRT1027940	hsa-miR-4758-3p	CLIP-seq
MIRT2004927	hsa-miR-541	CLIP-seq
MIRT2004928	hsa-miR-654-5p	CLIP-seq
MIRT1027937	hsa-miR-150	CLIP-seq
MIRT1027939	hsa-miR-3189-5p	CLIP-seq
MIRT1027940	hsa-miR-4758-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GATA1	Activation	8703016
GATA1	Unknown	11418466

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	NAS	3353370
GO:0005515	Function	Protein binding	IPI	4044584, 11943773, 18674540, 18789323
GO:0005886	Component	Plasma membrane	NAS	3353370
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	NAS	3353370
GO:0007596	Process	Blood coagulation	IEA
GO:0007597	Process	Blood coagulation, intrinsic pathway	IPI	10501658
GO:0007597	Process	Blood coagulation, intrinsic pathway	NAS	16293600
GO:0007599	Process	Hemostasis	IEA
GO:0010572	Process	Positive regulation of platelet activation	IDA	1939645
GO:0010572	Process	Positive regulation of platelet activation	NAS	16293600
GO:0016020	Component	Membrane	IEA
GO:0030168	Process	Platelet activation	NAS	12871509
GO:0035855	Process	Megakaryocyte development	ISO
GO:0035855	Process	Megakaryocyte development	NAS	16293600
GO:0042802	Function	Identical protein binding	IPI	18674540
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	1939645
GO:0051209	Process	Release of sequestered calcium ion into cytosol	NAS	16293600
GO:1990779	Component	Glycoprotein Ib-IX-V complex	IPI	1730602
GO:1990779	Component	Glycoprotein Ib-IX-V complex	NAS	16293600

Other IDs

• MIM: 138720
• HGNC: 4440
• e!Ensembl: ENSG00000203618

Protein

• UniProt ID: P13224
• Protein name: Platelet glycoprotein Ib beta chain (GP-Ib beta) (GPIb-beta) (GPIbB) (Antigen CD42b-beta) (CD antigen CD42c)
• Protein function: Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium.
• PDB: 3REZ, 3RFE, 8WFS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01463	LRRCT	115 → 142	Leucine rich repeat C-terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in heart and brain. {ECO:0000269|PubMed:8200976}.
• Sequence:

  MGSGPRGALSLLLLLLAPPSRPAAGCPAPCSCAGTLVDCGRRGLTWASLPTAFPVDTTEL
  VLTGNNLTALPPGLLDALPALRTAHLGANPWRCDCRLVPLRAWLAGRPERAPYRDLRCVA
  PPALRGRLLPYLAEDELRAACAPGPLCWGALAAQLALLGLGLLHALLLVLLLCRLRRLRA
  RARARAAARLSLTDPLVAERAGTDES

• Sequence length: 206

Pathways

KEGG:

ECM-receptor interaction
Platelet activation
Hematopoietic cell lineage

Reactome:

Intrinsic Pathway of Fibrin Clot Formation
GP1b-IX-V activation signalling
Platelet Adhesion to exposed collagen
Platelet Aggregation (Plug Formation)

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
Bernard Soulier syndrome	Likely pathogenic; Pathogenic	rs1402804629, rs953345181, rs1375840544, rs2145796556, rs2145795850, rs1389191920, rs1197982563, rs2145796221, rs2517805607, rs2517805526, rs2517805015, rs2517804321, rs1402823262, rs2517805750, rs1216332861, rs2517805000, rs2517804907, rs121909750, rs121909752, rs2517804426, rs1601248210, rs536874549, rs1601248889, rs1360071443, rs1601249021	RCV001782219 RCV002226807 RCV002254218 RCV002254219 RCV002254220 RCV002280916 RCV002254240 RCV002254241 RCV002281018 RCV002281019 RCV002281020 RCV002281021 RCV002283690 RCV003313834 RCV003313860 RCV003313887 RCV003447777 RCV005252687 RCV002222354 RCV003990949 RCV002222630 RCV005633668 RCV000852115 RCV005253113 RCV000851807	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bernard-Soulier syndrome, type B	Likely pathogenic; Pathogenic	rs587783648, rs121909752, rs730882059	RCV000146029 RCV000017415 RCV000017416	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GP1BB-related disorder	Likely pathogenic	rs587783648	RCV004754313	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Increased mean platelet volume	Likely pathogenic	rs121909752	RCV001003919	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Likely pathogenic	rs121909752, rs1601248210, rs1601248859, rs1360071443, rs1254692009, rs1601247763, rs1601248245, rs1601248530	RCV001003920 RCV001003916 RCV001003922 RCV001003923 RCV000851819 RCV001003542 RCV001003917 RCV001003921	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE	Likely pathogenic; Pathogenic	rs121909750, rs121909751	RCV000017413 RCV000017414	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mild macrothrombocytopenia	Likely pathogenic	rs1389191920	RCV002254239	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Likely pathogenic; Pathogenic	rs121909752, rs1601248210, rs536874549, rs1601248859, rs1360071443	RCV000851693 RCV000852142 RCV000852027 RCV000851772 RCV000851797	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
22Q11.2 DELETION SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abnormal bleeding	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT MACROTHROMBOCYTOPENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BERNARD-SOULIER SYNDROME	—	CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGEORGE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
22q11 Deletion Syndrome	22q11 deletion syndrome	BEFREE	30549403		★☆☆☆☆ Found in Text Mining only
22q11 Deletion Syndrome	22q11 deletion syndrome	Pubtator	30549403	Associate	★☆☆☆☆ Found in Text Mining only
22q11 Deletion Syndrome	22q11 deletion syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
22q11 partial monosomy syndrome	22q11 partial monosomy syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
22q11.2 deletion syndrome	22q11.2 deletion syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35406633, 36471423	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asymmetric crying face association	Asymmetric crying face association	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant macrothrombocytopenia	Macrothrombocytopenia	BEFREE	28064200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant macrothrombocytopenia	Macrothrombocytopenia	ORPHANET_DG	28064200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant macrothrombocytopenia	Macrothrombocytopenia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barber Say syndrome	Barber Say Syndrome	GENOMICS_ENGLAND_DG	21357716		★☆☆☆☆ Found in Text Mining only
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	11754414, 12036872, 12447957, 15550031, 21699652, 21933849, 21993687, 23402648, 27291889, 33217855, 33813986, 34333846, 34638529, 40045897, 7949089, 8703016, 9116284	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	CLINGEN_DG	10887115, 12447957, 12693941, 12945881, 12958615, 15213102, 16409472, 16978236, 27148783, 3258770, 8089142, 9116284		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	11816714, 12447957, 12945881, 16978236, 18825380, 19484238, 21800012, 21908432, 23402648, 30549403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	LHGDN	11816714, 12463594, 12529755, 12958615		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	GENOMICS_ENGLAND_DG	21357716, 28064200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	ORPHANET_DG	22886561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier syndrome	Bernard Soulier Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	UNIPROT_DG	9116284		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome, Type B	Bernard Soulier Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bipolar Disorder	Bipolar Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	11816714, 28064200		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	33813986	Associate	★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	GENOMICS_ENGLAND_DG	21357716		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	15213848		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	15213848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL ANOMALY FACE SYNDROME	Conotruncal Anomaly Face Syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deficiency of Platelet Glycoprotein 1b	Deficiency Of Platelet Glycoprotein 1b	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	LHGDN	18064328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DiGeorge Syndrome	Digeorge syndrome	Pubtator	29851532	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DiGeorge Syndrome	DiGeorge Syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fetal and neonatal alloimmune thrombocytopenia	Alloimmune Thrombocytopenia	Orphanet			★☆☆☆☆ Found in Text Mining only
FNAITP	Fetal and neonatal alloimmune thrombocytopenia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gilbert Disease	Gilbert syndrome	Pubtator	36173017	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	21800012		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	28064200	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	27148783, 28064200, 30549403		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macrothrombocytopenia	Macrothrombocytopenia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macrothrombocytopenia	Macrothrombocytopenia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Occipital myelomeningocele	Myelomeningocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Platybasia	Platybasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seborrheic dermatitis	Seborrheic dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spontaneous hematomas	Hematomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28814981	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	34638529	Associate	★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only