TaoMedAI/RareMedData huggingface dataset:
Gene: PNPLA2
Phenotype: Abnormal calf musculature morphology (HP:0001430)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Abnormality of the shoulder girdle musculature (HP:0001435)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Myalgia (HP:0003326)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Myalgia (HP:0003326)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Gowers sign (HP:0003391)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Gowers sign (HP:0003391)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Adult onset (HP:0003581)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Fasciculations (HP:0002380)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Fasciculations (HP:0002380)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Low-output congestive heart failure (HP:0009805)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Cholecystitis (HP:0001082)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Precordial pain (HP:0032141)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Palpitations (HP:0001962)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Vacuolated lymphocytes (HP:0001922)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Difficulty running (HP:0009046)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Difficulty running (HP:0009046)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Pineal cyst (HP:0012683)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Short stature (HP:0004322)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Short stature (HP:0004322)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Myopathy (HP:0003198)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Myopathy (HP:0003198)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Coronary artery stenosis (HP:0005145)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Abnormal cardiomyocyte morphology (HP:0031331)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Obesity (HP:0001513)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Inflammatory abnormality of the skin (HP:0011123)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: PNPLA2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Gene: PNPLA2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Renal artery atherosclerosis (HP:0031684)
Associated disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Gene: PNPLA2
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: Adipose triglyceride lipase deficiency; Neutral lipid storage disease with myopathy without ichthyosis; NLSDM; Neutral lipid storage disease with myopathy; Neutral lipid storage disease type M (ORPHA:98908)
Gene: CYSLTR2
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: CYSLTR2
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: CYSLTR2
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: CYSLTR2
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: CYSLTR2
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: CYSLTR2
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: CYSLTR2
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: CYSLTR2
Phenotype: Mydriasis (HP:0011499)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: CYSLTR2
Phenotype: Photopsia (HP:0030786)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: CYSLTR2
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: CYSLTR2
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: CYSLTR2
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: CYSLTR2
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: CYSLTR2
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: CYSLTR2
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: CYSLTR2
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: CYSLTR2
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: PDSS2
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Gene: PDSS2
Phenotype: Proteinuria (HP:0000093)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Gene: PDSS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Gene: PDSS2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Gene: PDSS2
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Gene: PDSS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Gene: PDSS2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Gene: PDSS2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Gene: PDSS2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Gene: PDSS2
Phenotype: Focal T2 hyperintense basal ganglia lesion (HP:0007183)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Gene: PDSS2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Gene: PDSS2
Phenotype: Edema (HP:0000969)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Gene: PDSS2
Phenotype: Decreased level of coenzyme Q10 in skeletal muscle (HP:0034369)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Gene: PDSS2
Phenotype: Focal motor status epilepticus (HP:0032663)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Gene: NUP107
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP107
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NUP107
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)
Gene: NUP107
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP107
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: NEPHROTIC SYNDROME, TYPE 11 (OMIM:616730)
Gene: NUP107
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: GALLOWAY-MOWAT SYNDROME 7 (OMIM:618348)