TaoMedAI/RareMedData huggingface dataset:
Gene: STK11
Phenotype: Gynecomastia (HP:0000771)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Macule (HP:0012733)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Neoplasm of the nose (HP:0012720)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Childhood onset (HP:0011463)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Neoplasm of the colon (HP:0100273)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Bile duct polyp (HP:0034352)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Uveal melanoma (HP:0007716)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Gene: STK11
Phenotype: Cervix cancer (HP:0030079)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Embryonal neoplasm (HP:0002898)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: STK11
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: STK11
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: STK11
Phenotype: Abnormality of the gallbladder (HP:0005264)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Gastrointestinal infarctions (HP:0005244)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: STK11
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: STK11
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Gene: STK11
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: STK11
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: STK11
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: AURKC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 5 (OMIM:243060)
Gene: AURKC
Phenotype: Macrozoospermia (HP:0025437)
Associated disease: SPERMATOGENIC FAILURE 5 (OMIM:243060)
Gene: AURKC
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 5 (OMIM:243060)
Gene: AURKC
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 5 (OMIM:243060)
Gene: AURKC
Phenotype: Multiflagellar spermatozoa (HP:0034309)
Associated disease: SPERMATOGENIC FAILURE 5 (OMIM:243060)
Gene: STX1A
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Stroke (HP:0001297)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Dysarthria (HP:0001260)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Spasticity (HP:0001257)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Proteinuria (HP:0000093)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Renal duplication (HP:0000075)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormality of the bladder (HP:0000014)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Nystagmus-induced head nodding (HP:0001361)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Functional abnormality of male internal genitalia (HP:0000025)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Tremor (HP:0001337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Dysmetria (HP:0001310)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Overriding aorta (HP:0002623)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Macroglossia (HP:0000158)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Wide mouth (HP:0000154)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Malabsorption (HP:0002024)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Constipation (HP:0002019)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Phonophobia (HP:0002183)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Insomnia (HP:0100785)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormal diencephalon morphology (HP:0010662)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Open bite (HP:0010807)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Hyperacusis (HP:0010780)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormal gastric mucosa morphology (HP:0004295)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormal tubulointerstitial morphology (HP:0001969)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Blue irides (HP:0000635)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Microdontia (HP:0000691)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Carious teeth (HP:0000670)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Hypodontia (HP:0000668)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Short stature (HP:0004322)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Overfriendliness (HP:0100025)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Anxiety (HP:0000739)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: STX1A
Phenotype: Depression (HP:0000716)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: STX1A
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)