CLIP2 (CAP-Gly domain containing linker protein 2)

Gene

• Entrez ID: 7461
• Gene name: CAP-Gly domain containing linker protein 2
• Gene symbol: CLIP2
• Synonyms (NCBI Gene): CLIP, CLIP-115, CYLN2, WBSCR3, WBSCR4, WSCR3, WSCR4
• Chromosome: 7
• Chromosome location: 7q11.23
• Summary: The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017277	hsa-miR-335-5p	Microarray	18185580
MIRT051153	hsa-miR-16-5p	CLASH	23622248
MIRT494214	hsa-miR-219a-5p	PAR-CLIP	23592263
MIRT494213	hsa-miR-4782-3p	PAR-CLIP	23592263
MIRT494212	hsa-miR-6766-3p	PAR-CLIP	23592263
MIRT494211	hsa-miR-1911-5p	PAR-CLIP	23592263
MIRT494210	hsa-miR-3960	PAR-CLIP	23592263
MIRT494209	hsa-miR-8072	PAR-CLIP	23592263
MIRT494208	hsa-miR-4450	PAR-CLIP	23592263
MIRT494207	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT494205	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT494206	hsa-miR-5698	PAR-CLIP	23592263
MIRT494204	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT494203	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT494202	hsa-miR-4525	PAR-CLIP	23592263
MIRT494201	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT494200	hsa-miR-1275	PAR-CLIP	23592263
MIRT494199	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT440934	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440934	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT494214	hsa-miR-219a-5p	PAR-CLIP	23592263
MIRT494213	hsa-miR-4782-3p	PAR-CLIP	23592263
MIRT494212	hsa-miR-6766-3p	PAR-CLIP	23592263
MIRT494211	hsa-miR-1911-5p	PAR-CLIP	23592263
MIRT494210	hsa-miR-3960	PAR-CLIP	23592263
MIRT494209	hsa-miR-8072	PAR-CLIP	23592263
MIRT494208	hsa-miR-4450	PAR-CLIP	23592263
MIRT494207	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT494205	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT494206	hsa-miR-5698	PAR-CLIP	23592263
MIRT494204	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT494203	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT494202	hsa-miR-4525	PAR-CLIP	23592263
MIRT494201	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT494200	hsa-miR-1275	PAR-CLIP	23592263
MIRT494199	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT896557	hsa-miR-1226	CLIP-seq
MIRT896558	hsa-miR-1254	CLIP-seq
MIRT896559	hsa-miR-1257	CLIP-seq
MIRT896560	hsa-miR-1910	CLIP-seq
MIRT896561	hsa-miR-193a-5p	CLIP-seq
MIRT896562	hsa-miR-1976	CLIP-seq
MIRT896563	hsa-miR-24	CLIP-seq
MIRT896564	hsa-miR-3116	CLIP-seq
MIRT896565	hsa-miR-3137	CLIP-seq
MIRT896566	hsa-miR-3150a-3p	CLIP-seq
MIRT896567	hsa-miR-3151	CLIP-seq
MIRT896568	hsa-miR-3154	CLIP-seq
MIRT896569	hsa-miR-3175	CLIP-seq
MIRT896570	hsa-miR-377	CLIP-seq
MIRT896571	hsa-miR-4254	CLIP-seq
MIRT896572	hsa-miR-4264	CLIP-seq
MIRT896573	hsa-miR-4268	CLIP-seq
MIRT896574	hsa-miR-4283	CLIP-seq
MIRT896575	hsa-miR-4318	CLIP-seq
MIRT896576	hsa-miR-432	CLIP-seq
MIRT896577	hsa-miR-4437	CLIP-seq
MIRT896578	hsa-miR-4447	CLIP-seq
MIRT896579	hsa-miR-4472	CLIP-seq
MIRT896580	hsa-miR-4520a-3p	CLIP-seq
MIRT896581	hsa-miR-4520b-3p	CLIP-seq
MIRT896582	hsa-miR-455-3p	CLIP-seq
MIRT896583	hsa-miR-4639-3p	CLIP-seq
MIRT896584	hsa-miR-4663	CLIP-seq
MIRT896585	hsa-miR-4722-3p	CLIP-seq
MIRT896586	hsa-miR-4728-5p	CLIP-seq
MIRT896587	hsa-miR-4733-3p	CLIP-seq
MIRT896588	hsa-miR-4797-3p	CLIP-seq
MIRT896589	hsa-miR-491-5p	CLIP-seq
MIRT896590	hsa-miR-661	CLIP-seq
MIRT896591	hsa-miR-665	CLIP-seq
MIRT896592	hsa-miR-765	CLIP-seq
MIRT896593	hsa-miR-939	CLIP-seq
MIRT896578	hsa-miR-4447	CLIP-seq
MIRT896579	hsa-miR-4472	CLIP-seq
MIRT1546497	hsa-miR-4651	CLIP-seq
MIRT1546498	hsa-miR-608	CLIP-seq
MIRT1546499	hsa-miR-625	CLIP-seq
MIRT1546500	hsa-miR-638	CLIP-seq
MIRT1965834	hsa-miR-1285	CLIP-seq
MIRT1965835	hsa-miR-3187-5p	CLIP-seq
MIRT1965836	hsa-miR-326	CLIP-seq
MIRT1965837	hsa-miR-330-5p	CLIP-seq
MIRT1965838	hsa-miR-3943	CLIP-seq
MIRT1965839	hsa-miR-4488	CLIP-seq
MIRT1965840	hsa-miR-4514	CLIP-seq
MIRT1965841	hsa-miR-4667-5p	CLIP-seq
MIRT1965842	hsa-miR-4692	CLIP-seq
MIRT1965843	hsa-miR-4697-5p	CLIP-seq
MIRT1965844	hsa-miR-4700-5p	CLIP-seq
MIRT1965845	hsa-miR-4749-3p	CLIP-seq
MIRT1965846	hsa-miR-612	CLIP-seq
MIRT1965847	hsa-miR-637	CLIP-seq
MIRT1965848	hsa-miR-720	CLIP-seq
MIRT1965849	hsa-miR-940	CLIP-seq
MIRT896575	hsa-miR-4318	CLIP-seq
MIRT896586	hsa-miR-4728-5p	CLIP-seq
MIRT2386177	hsa-miR-22	CLIP-seq
MIRT896586	hsa-miR-4728-5p	CLIP-seq
MIRT2447190	hsa-miR-3622a-5p	CLIP-seq
MIRT2447191	hsa-miR-4423-3p	CLIP-seq
MIRT2447192	hsa-miR-4650-5p	CLIP-seq
MIRT896585	hsa-miR-4722-3p	CLIP-seq
MIRT2447193	hsa-miR-4755-3p	CLIP-seq
MIRT2447194	hsa-miR-564	CLIP-seq
MIRT896590	hsa-miR-661	CLIP-seq
MIRT896565	hsa-miR-3137	CLIP-seq
MIRT896570	hsa-miR-377	CLIP-seq
MIRT896583	hsa-miR-4639-3p	CLIP-seq
MIRT2504683	hsa-miR-4718	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005875	Component	Microtubule associated complex	TAS	9799601
GO:0005938	Component	Cell cortex	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0008017	Function	Microtubule binding	ISS
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0031122	Process	Cytoplasmic microtubule organization	IBA
GO:0035371	Component	Microtubule plus-end	IBA
GO:0035371	Component	Microtubule plus-end	IEA
GO:0035371	Component	Microtubule plus-end	ISS
GO:0051010	Function	Microtubule plus-end binding	IBA
GO:0051010	Function	Microtubule plus-end binding	IEA

Other IDs

• MIM: 603432
• HGNC: 2586
• e!Ensembl: ENSG00000106665

Protein

• UniProt ID: Q9UDT6
• Protein name: CAP-Gly domain-containing linker protein 2 (Cytoplasmic linker protein 115) (CLIP-115) (Cytoplasmic linker protein 2) (Williams-Beuren syndrome chromosomal region 3 protein) (Williams-Beuren syndrome chromosomal region 4 protein)
• Protein function: Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the control of brain-specific organelle
• PDB: 2CP2, 2CP3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01302	CAP_GLY	81 → 145	CAP-Gly domain	Domain
  PF01302	CAP_GLY	221 → 285	CAP-Gly domain	Domain

• Sequence:

  MQKPSGLKPPGRGGKHSSPMGRTSTGSASSSAAVAASSKEGSPLHKQSSGPSSSPAAAAA
  PEKPGPKAAEVGDDFLGDFVVGERVWVNGVKPGVVQYLGETQFAPGQWAGVVLDDPVGKN
  DGAVGGVRYFECPALQGIFTRPSKLTRQPTAEGSGSDAHSVESLTAQNLSLHSGTATPPL
  TSRVIPLRESVLNSSVKTGNESGSNLSDSGSVKRGEKDLRLGDRVLVGGTKTGVVRYVGE
  TDFAKGEWCGVELDEPLGKNDGAVAGTRYFQCPPKFGLFAPIHKVIRIGFPSTSPAKAKK
  TKRMAMGVSALTHSPSSSSISSVSSVASSVGGRPSRSGLLTETSSRYARKISGTTALQEA
  LKEKQQHIEQLLAERDLERAEVAKATSHICEVEKEIALLKAQHEQYVAEAEEKLQRARLL
  VESVRKEKVDLSNQLEEERRKVEDLQFRVEEESITKGDLETQTQLEHARIGELEQSLLLE
  KAQAERLLRELADNRLTTVAEKSRVLQLEEELTLRRGEIEELQQCLLHSGPPPPDHPDAA
  EILRLRERLLSASKEHQRESGVLRDKYEKALKAYQAEVDKLRAANEKYAQEVAGLKDKVQ
  QATSENMGLMDNWKSKLDSLASDHQKSLEDLKATLNSGPGAQQKEIGELKAVMEGIKMEH
  QLELGNLQAKHDLETAMHVKEKEALREKLQEAQEELAGLQRHWRAQLEVQASQHRLELQE
  AQDQRRDAELRVHELEKLDVEYRGQAQAIEFLKEQISLAEKKMLDYERLQRAEAQGKQEV
  ESLREKLLVAENRLQAVEALCSSQHTHMIESNDISEETIRTKETVEGLQDKLNKRDKEVT
  ALTSQTEMLRAQVSALESKCKSGEKKVDALLKEKRRLEAELETVSRKTHDASGQLVLISQ
  ELLRKERSLNELRVLLLEANRHSPGPERDLSREVHKAEWRIKEQKLKDDIRGLREKLTGL
  DKEKSLSDQRRYSLIDRSSAPELLRLQHQLMSTEDALRDALDQAQQVEKLMEAMRSCPDK
  AQTIGNSGSANGIHQQDKAQKQEDKH

• Sequence length: 1046

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAPHO SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILLIAMS SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Accessory kidney	Accessory Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aneurysm of aortic arch	Aneurysm Of Aortic Arch	HPO_DG			★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	25301710	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_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	BEFREE	24613350		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Diverticulum	Bladder Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15255181, 24398324, 24906430		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27729373	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	12638521		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	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 hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cornea plana	Cornea Plana	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15699494, 22805744		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15699494		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	15699494		★☆☆☆☆ Found in Text Mining only
Hyperostosis Diffuse Idiopathic Skeletal	Diffuse idiopathic skeletal hyperostosis	Pubtator	22608712	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	12638521, 22608712		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	22927820, 25710169		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27864623, 28465639, 28735896, 29538313, 29766659, 30282074, 30941964, 31648804		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24398324, 24906430		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28735896, 30282074		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29603582, 29993641		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	22608712	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	26257173		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15818732, 23840303		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus-induced head nodding	Nystagmus-induced head nodding	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Overriding aorta	Overriding aorta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25957251, 27729373		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelvic kidney	Pelvic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral pulmonary artery stenosis	Peripheral pulmonary artery stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	25301710		★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Supravalvular aortic stenosis	Supravalvar aortic stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	25301710	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	25957251, 27729373, 32727620	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32727620	Associate	★☆☆☆☆ 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
Williams Syndrome	Williams Syndrome	BEFREE	14745832, 15951840, 17827280, 20952458, 22411788, 22608712, 9799601		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams Syndrome	Williams syndrome	Pubtator	17827280, 22411788, 25105779, 33208191, 33564861	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams syndrome	Williams Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations