TaoMedAI/RareMedData huggingface dataset:
Gene: MSH6
Phenotype: Memory impairment (HP:0002354)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Salivary gland neoplasm (HP:0100684)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 (OMIM:614350)
Gene: MSH6
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Urinary tract neoplasm (HP:0010786)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH6
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Colon cancer (HP:0003003)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 3 (OMIM:619097)
Gene: MSH6
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH6
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MSH6
Phenotype: Colon cancer (HP:0003003)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH6
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH6
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Hallucinations (HP:0000738)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Irritability (HP:0000737)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Anxiety (HP:0000739)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Depression (HP:0000716)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Axillary freckling (HP:0000997)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 3 (OMIM:619097)
Gene: MSH6
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 (OMIM:614350)
Gene: MSH6
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Death in infancy (HP:0001522)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH6
Phenotype: Fatigue (HP:0012378)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MSH6
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH6
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH6
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 (OMIM:614350)
Gene: MSH6
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH6
Phenotype: Malignant genitourinary tract tumor (HP:0006758)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Weight loss (HP:0001824)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: GTF2E2
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Hypoplasia of mandible relative to maxilla (HP:0410219)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Long-tract sign (HP:0002423)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Motor delay (HP:0001270)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Spasticity (HP:0001257)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Low-set nipples (HP:0002562)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Congenital exfoliative erythroderma (HP:0007381)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Clubbing (HP:0001217)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Mild intrauterine growth retardation (HP:0008883)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Coxa valga (HP:0002673)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Numerous pigmented freckles (HP:0007587)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Intention tremor (HP:0002080)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Paraplegia/paraparesis (HP:0010551)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Brittle hair (HP:0002299)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Brittle hair (HP:0002299)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Generalized hyperreflexia (HP:0007034)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Aplasia/Hypoplasia of the nails (HP:0008386)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Nystagmus (HP:0000639)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Photophobia (HP:0000613)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Anemia (HP:0001903)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Ectropion (HP:0000656)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Carious teeth (HP:0000670)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Short stature (HP:0004322)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Increased HbA2 hemoglobin (HP:0045048)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Dry skin (HP:0000958)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Dry skin (HP:0000958)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Retrognathia (HP:0000278)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Concave nail (HP:0001598)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Microcephaly (HP:0000252)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Dysphonia (HP:0001618)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Bird-like facies (HP:0000320)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Astigmatism (HP:0000483)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Strabismus (HP:0000486)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Microcornea (HP:0000482)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Microcornea (HP:0000482)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Protruding ear (HP:0000411)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Pes cavus (HP:0001761)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Split nail (HP:0001809)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Fragile nails (HP:0001808)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Ridged nail (HP:0001807)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Esotropia (HP:0000565)
Associated disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Gene: GTF2E2
Phenotype: Esotropia (HP:0000565)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Myopia (HP:0000545)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2E2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: GTF2I
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Stroke (HP:0001297)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Dysarthria (HP:0001260)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Spasticity (HP:0001257)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
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: GTF2I
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Proteinuria (HP:0000093)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Renal duplication (HP:0000075)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Abnormality of the bladder (HP:0000014)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Nystagmus-induced head nodding (HP:0001361)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
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: GTF2I
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)