TaoMedAI/RareMedData huggingface dataset:
Gene: GNAS
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Increased bone density with cystic changes (HP:0005700)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Abnormal circulating renin concentration (HP:0040084)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Abnormal circulating aldosterone concentration (HP:0040085)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Short 5th finger (HP:0009237)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: PITUITARY ADENOMA 3, MULTIPLE TYPES (OMIM:617686)
Gene: GNAS
Phenotype: Thin skin (HP:0000963)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Osteoporosis (HP:0000939)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Osteopenia (HP:0000938)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Sarcoma (HP:0100242)
Associated disease: Familial ectopic ossification; POH; Progressive osseous heteroplasia (ORPHA:2762)
Gene: GNAS
Phenotype: Short finger (HP:0009381)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Full cheeks (HP:0000293)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Full cheeks (HP:0000293)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Full cheeks (HP:0000293)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Full cheeks (HP:0000293)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Full cheeks (HP:0000293)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Full cheeks (HP:0000293)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Alopecia (HP:0001596)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Increased serum testosterone level (HP:0030088)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Kyphosis (HP:0002808)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Primary hypercortisolism (HP:0001579)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Primary hypercortisolism (HP:0001579)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Meningioma (HP:0002858)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Growth abnormality (HP:0001507)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Obesity (HP:0001513)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS
Phenotype: Obesity (HP:0001513)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Obesity (HP:0001513)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Obesity (HP:0001513)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Obesity (HP:0001513)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Obesity (HP:0001513)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Obesity (HP:0001513)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Round face (HP:0000311)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Round face (HP:0000311)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Round face (HP:0000311)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Round face (HP:0000311)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Round face (HP:0000311)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Round face (HP:0000311)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Round face (HP:0000311)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Round face (HP:0000311)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Pancreatitis (HP:0001733)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Strabismus (HP:0000486)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Short neck (HP:0000470)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Short neck (HP:0000470)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Short neck (HP:0000470)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Short neck (HP:0000470)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Short neck (HP:0000470)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Short neck (HP:0000470)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Nasal congestion (HP:0001742)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Benign gastrointestinal tract tumors (HP:0006719)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Cutaneous myxoma (HP:0030428)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Cataract (HP:0000518)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Cataract (HP:0000518)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Cataract (HP:0000518)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Cataract (HP:0000518)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Cataract (HP:0000518)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Cataract (HP:0000518)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Short toe (HP:0001831)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Band keratopathy (HP:0000585)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Visual loss (HP:0000572)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Pancytopenia (HP:0001876)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAT1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G (OMIM:616389)
Gene: GNAT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G (OMIM:616389)
Gene: GNAT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3 (OMIM:610444)
Gene: GNAT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GNAT1
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G (OMIM:616389)
Gene: GNAT1
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3 (OMIM:610444)
Gene: GNAT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GNAT1
Phenotype: Abnormal dark-adapted electroretinogram (HP:0030469)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GNAT1
Phenotype: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave (HP:0030483)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GNAT1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GNAT1
Phenotype: Congenital stationary night blindness with abnormal fundus (HP:0030639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GNAT1
Phenotype: Congenital stationary night blindness with normal fundus (HP:0030638)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GNAT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GNAT1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT1
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GNAT1
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GNAT1
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)