TaoMedAI/RareMedData huggingface dataset:
Gene: GM2A
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: GM2-ganglioside accumulation (HP:0003495)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Infantile onset (HP:0003593)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Pseudobulbar signs (HP:0002200)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Developmental regression (HP:0002376)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Loss of speech (HP:0002371)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Loss of speech (HP:0002371)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Hyperacusis (HP:0010780)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Hyperacusis (HP:0010780)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Blindness (HP:0000618)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Short stature (HP:0004322)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Anxiety (HP:0000739)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Apathy (HP:0000741)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Inappropriate behavior (HP:0000719)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Dementia (HP:0000726)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Punctate periventricular T2 hyperintense foci (HP:0030081)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Aspiration (HP:0002835)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GNA11
Phenotype: Zonular cataract (HP:0010920)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Blue nevus (HP:0100814)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Seizure (HP:0001250)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Ciliary body melanoma (HP:0012055)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Choroidal melanoma (HP:0012054)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 (OMIM:615361)
Gene: GNA11
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (OMIM:145981)
Gene: GNA11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 (OMIM:615361)
Gene: GNA11
Phenotype: Scoliosis (HP:0002650)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Hypotension (HP:0002615)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Abdominal pain (HP:0002027)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Abnormal blood phosphate concentration (HP:0100529)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 (OMIM:615361)
Gene: GNA11
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Asymmetric growth (HP:0100555)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Muscle spasm (HP:0003394)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 (OMIM:615361)
Gene: GNA11
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 (OMIM:615361)
Gene: GNA11
Phenotype: EMG abnormality (HP:0003457)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (OMIM:145981)
Gene: GNA11
Phenotype: Paresthesia (HP:0003401)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Paresthesia (HP:0003401)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 (OMIM:615361)
Gene: GNA11
Phenotype: Adult onset (HP:0003581)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 (OMIM:615361)
Gene: GNA11
Phenotype: Parathormone-independent increased renal tubular calcium reabsorption (HP:0003529)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (OMIM:145981)
Gene: GNA11
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (OMIM:145981)
Gene: GNA11
Phenotype: Writer's cramp (HP:0002356)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Ocular pain (HP:0200026)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Abnormal fundus morphology (HP:0001098)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Skin erosion (HP:0200041)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Inferior lens subluxation (HP:0008494)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Optic atrophy (HP:0000648)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Hypermagnesiuria (HP:0012608)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Subcutaneous hemorrhage (HP:0001933)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (OMIM:145981)
Gene: GNA11
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (OMIM:145981)
Gene: GNA11
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Anxiety (HP:0000739)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Depression (HP:0000716)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Emotional lability (HP:0000712)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Atypical behavior (HP:0000708)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Mydriasis (HP:0011499)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (OMIM:145981)
Gene: GNA11
Phenotype: Photopsia (HP:0030786)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Hypocalciuria (HP:0003127)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (OMIM:145981)
Gene: GNA11
Phenotype: Iris melanoma (HP:0011524)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Abnormal visual accommodation (HP:0030800)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Purpura (HP:0000979)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Dry skin (HP:0000958)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (OMIM:145981)
Gene: GNA11
Phenotype: Cortical myoclonus (HP:0040148)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Arrhythmia (HP:0011675)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Alopecia (HP:0001596)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Short lower limbs (HP:0006385)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Ascites (HP:0001541)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Hypermagnesemia (HP:0002918)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (OMIM:145981)
Gene: GNA11
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 (OMIM:615361)
Gene: GNA11
Phenotype: Micrognathia (HP:0000347)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: GNA11
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Pancreatitis (HP:0001733)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (OMIM:145981)
Gene: GNA11
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Leukocoria (HP:0000555)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Visual loss (HP:0000572)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNA11
Phenotype: Retinal detachment (HP:0000541)
Associated disease: CMTC; Cutis marmorata telangiectatica congenita (ORPHA:1556)
Gene: GNA11
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAI1
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Severe temper tantrums (HP:0025162)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Short nose (HP:0003196)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Obesity (HP:0001513)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI1
Phenotype: Long hallux (HP:0001847)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Gene: GNAI2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR TACHYCARDIA, FAMILIAL (OMIM:192605)
Gene: GNAI2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: VENTRICULAR TACHYCARDIA, FAMILIAL (OMIM:192605)
Gene: GNAI2
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: VENTRICULAR TACHYCARDIA, FAMILIAL (OMIM:192605)
Gene: GNAI2
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: VENTRICULAR TACHYCARDIA, FAMILIAL (OMIM:192605)
Gene: GNAI2
Phenotype: Adult onset (HP:0003581)
Associated disease: VENTRICULAR TACHYCARDIA, FAMILIAL (OMIM:192605)
Gene: GNAI2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR TACHYCARDIA, FAMILIAL (OMIM:192605)
Gene: GNAI2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: VENTRICULAR TACHYCARDIA, FAMILIAL (OMIM:192605)
Gene: GNAI3
Phenotype: Cleft helix (HP:0009902)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Abnormality of the crus of the helix (HP:0009895)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Hypoplastic superior helix (HP:0008559)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Snoring (HP:0025267)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Snoring (HP:0025267)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)