TaoMedAI/RareMedData huggingface dataset:
Gene: GNAS
Phenotype: Renal cell carcinoma (HP:0005584)
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: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Nystagmus (HP:0000639)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Nystagmus (HP:0000639)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Nystagmus (HP:0000639)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Nystagmus (HP:0000639)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Nystagmus (HP:0000639)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Nystagmus (HP:0000639)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Blindness (HP:0000618)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Truncal obesity (HP:0001956)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Glucose intolerance (HP:0001952)
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: Short distal phalanx of the 3rd finger (HP:0004180)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Short 5th metacarpal (HP:0010047)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Short 5th metacarpal (HP:0010047)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Short 5th metacarpal (HP:0010047)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Short 3rd metacarpal (HP:0010041)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Short 3rd metacarpal (HP:0010041)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Broad 1st metacarpal (HP:0010027)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Increased body weight (HP:0004324)
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: Short stature (HP:0004322)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Short stature (HP:0004322)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Short stature (HP:0004322)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Short stature (HP:0004322)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Short stature (HP:0004322)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Short stature (HP:0004322)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Short stature (HP:0004322)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Choroid plexus calcification (HP:0006960)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Choroid plexus calcification (HP:0006960)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Choroid plexus calcification (HP:0006960)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Choroid plexus calcification (HP:0006960)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Large cafe-au-lait macules with irregular margins (HP:0005605)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Large cafe-au-lait macules with irregular margins (HP:0005605)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Hyperlipidemia (HP:0003077)
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: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Abdominal obesity (HP:0012743)
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: Macule (HP:0012733)
Associated disease: Familial ectopic ossification; POH; Progressive osseous heteroplasia (ORPHA:2762)
Gene: GNAS
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Irritability (HP:0000737)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Irritability (HP:0000737)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Irritability (HP:0000737)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Anxiety (HP:0000739)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Anxiety (HP:0000739)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Anxiety (HP:0000739)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Anxiety (HP:0000739)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Depression (HP:0000716)
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: Depression (HP:0000716)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Depression (HP:0000716)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Depression (HP:0000716)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Depression (HP:0000716)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Emotional lability (HP:0000712)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Emotional lability (HP:0000712)
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: Agitation (HP:0000713)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Psychotic episodes (HP:0000725)
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: Psychosis (HP:0000709)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Abdominal symptom (HP:0011458)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Abdominal symptom (HP:0011458)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Abdominal symptom (HP:0011458)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Nephrolithiasis (HP:0000787)
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: Hyperphosphaturia (HP:0003109)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Hyperostosis frontalis interna (HP:0004438)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: PITUITARY ADENOMA 3, MULTIPLE TYPES (OMIM:617686)
Gene: GNAS
Phenotype: Increased circulating cortisol level (HP:0003118)
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 skeletal system (HP:0000924)
Associated disease: Mazabraud syndrome; Myxoma with fibrous dysplasia (ORPHA:57782)
Gene: GNAS
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Subcutaneous ossification (HP:0034282)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: PITUITARY ADENOMA 3, MULTIPLE TYPES (OMIM:617686)
Gene: GNAS
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
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: Irregular menstruation (HP:0000858)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Irregular menstruation (HP:0000858)
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: Goiter (HP:0000853)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Pseudohypoparathyroidism (HP:0000852)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Pseudohypoparathyroidism (HP:0000852)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Pseudohypoparathyroidism (HP:0000852)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS
Phenotype: Pseudohypoparathyroidism (HP:0000852)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Pseudohypoparathyroidism (HP:0000852)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Pseudohypoparathyroidism (HP:0000852)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Pseudohypoparathyroidism (HP:0000852)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: PITUITARY ADENOMA 3, MULTIPLE TYPES (OMIM:617686)
Gene: GNAS
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: PITUITARY ADENOMA 3, MULTIPLE TYPES (OMIM:617686)
Gene: GNAS
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Precocious puberty (HP:0000826)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Precocious puberty (HP:0000826)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Abnormality of the parathyroid gland (HP:0000828)
Associated disease: Familial ectopic ossification; POH; Progressive osseous heteroplasia (ORPHA:2762)
Gene: GNAS
Phenotype: Hypertension (HP:0000822)
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: Hypertension (HP:0000822)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Hypertension (HP:0000822)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)