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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▼
Q7RTW8	Otoancorin	OTOA	12	0	X-linked nonsyndromic deafness alpha 1-antitrypsin deficiency autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness complement component 2 deficiency congenital adrenal hyperplasia cytochrome-c oxidase deficiency disease obsolete autosomal recessive nonsyndromic deafness 105 sensorineural hearing loss von Willebrand's disease 2 von Willebrand's disease
Q6ZRI0	Otogelin	OTOG OTGN	5	1	X-linked nonsyndromic deafness allergic asthma amyotrophic lateral sclerosis type 1 asthma autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness intrinsic asthma obsolete autosomal recessive nonsyndromic deafness 105 sensorineural hearing loss
Q15067	Peroxisomal acyl-coenzyme A oxidase 1	ACOX1 ACOX	1	1	X-linked nonsyndromic deafness abdominal obesity-metabolic syndrome 1 adult lymphoma anodontia autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness cancer central nervous system lymphoma cerebral infarction cerebrovascular disease childhood lymphoma citrullinemia colorectal cancer colorectal carcinoma cone-rod dystrophy congenital nystagmus craniosynostosis depressive disorder disease of metabolism dissociated nystagmus dysthymic disorder dystonia epilepsy familial hyperlipidemia fundus albipunctatus hepatocellular carcinoma hypertropia large intestine cancer leukodystrophy liver cancer liver carcinoma lymphoma major depressive disorder mechanical strabismus melancholic depression mitochondrial metabolism disease mitochondrial myopathy myopia neurodegenerative disease neurotic disorder obsolete autosomal recessive nonsyndromic deafness 105 obsolete melancholia obsolete ymphosarcoma ophthalmoplegia optic atrophy pathologic nystagmus peroxisomal acyl-CoA oxidase deficiency peroxisomal disease retinitis pigmentosa sensorineural hearing loss speech disorder spontaneous ocular nystagmus steatotic liver disease strabismus syndromic X-linked intellectual disability 94 tooth agenesis visual epilepsy
Q16836	Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial	HADH HAD HAD1 HADHSC SCHAD	0	1	X-linked dilated cardiomyopathy Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acute myocardial infarction adrenoleukodystrophy agnosia cancer cardiomyopathy cone-rod dystrophy congestive heart failure coronary thrombosis developmental coordination disorder diabetes mellitus diarrhea dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy disease of metabolism embryoma endomyocardial fibrosis familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial hyperinsulinemic hypoglycemia 4 familial hypertrophic cardiomyopathy fundus albipunctatus gallbladder disease hepatitis hyperinsulinemic hypoglycemia hyperinsulinism hypertrophic cardiomyopathy hypoglycemia hypoglycemic coma intellectual disability lactic acidosis laryngeal benign neoplasm laryngeal carcinoma larynx cancer learning disability liver disease maple syrup urine disease mitochondrial trifunctional protein deficiency myocardial infarction myoglobinuria neuropathy obesity peripheral nervous system disease peroxisomal disease placental insufficiency retinitis pigmentosa silent myocardial infarction steatotic liver disease type 2 diabetes mellitus urea cycle disorder
Q9NPA2	Matrix metalloproteinase-25	MMP25 MMP20 MMPL1 MT6MMP	1	1	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 acoustic neuroma acute pericementitis adult fibrosarcoma aggressive periodontitis amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 1A amelogenesis imperfecta type 1B amelogenesis imperfecta type 1C amelogenesis imperfecta type 1E amelogenesis imperfecta type 1F amelogenesis imperfecta type 1G amelogenesis imperfecta type 1H amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 3A amelogenesis imperfecta type 4 amelogenesis imperfecta anaplastic astrocytoma angiomatous meningioma arthritis arthropathy benign meningioma brain cancer breast cancer breast carcinoma cancer carcinoma cerebral convexity meningioma childhood cerebral astrocytoma clear cell meningioma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer dental fluorosis dentin dysplasia dentinogenesis imperfecta embryoma fibrillary astrocytoma fibrosarcoma fibrous meningioma gemistocytic astrocytoma giant cell glioblastoma glioblastoma in situ carcinoma intraorbital meningioma intraventricular meningioma juvenile pilocytic astrocytoma large intestine cancer laryngeal squamous cell carcinoma malignant astrocytoma melanoma meningioma meningothelial meningioma microcystic meningioma multiple myeloma multiple sclerosis olfactory groove meningioma osteoarthritis parasagittal meningioma periodontosis pilocytic astrocytoma pituitary adenoma protoplasmic astrocytoma psammomatous meningioma rheumatoid arthritis sarcomatoid carcinoma secretory meningioma skin melanoma spinal meningioma stomach cancer stomach carcinoma subependymal giant cell astrocytoma transitional meningioma
P07098	Gastric triacylglycerol lipase	LIPF	4	0	Wolman disease lipid storage disease lysosomal acid lipase deficiency stomach cancer stomach carcinoma
Q96BZ4	5'-3' exonuclease PLD4	PLD4 C14orf175	10	13	Usher syndrome type 2 Usher syndrome type 3 Usher syndrome colon cancer colon carcinoma colonic benign neoplasm colorectal cancer hepatitis large intestine cancer retinitis pigmentosa-deafness syndrome rheumatoid arthritis scleroderma systemic scleroderma
Q96EG1	Arylsulfatase G	ARSG KIAA1001	4	0	Usher syndrome type 2 Usher syndrome type 3 Usher syndrome type 3A Usher syndrome anxiety disorder astigmatism blepharospasm blindness cancer cataract cerebellar ataxia cerebellar disease congenital stationary night blindness 1A congenital stationary night blindness depressive disorder dysthymic disorder dystonia embryoma focal dystonia focal hand dystonia generalized anxiety disorder generalized dystonia lysosomal storage disease major depressive disorder melancholic depression metachromatic leukodystrophy mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 4 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 9 neuronal ceroid lipofuscinosis neurotic disorder night blindness obsolete melancholia peripheral retinal degeneration prostate cancer prostate carcinoma retinitis pigmentosa-deafness syndrome schizophrenia scotoma sensorineural hearing loss
P35914	Hydroxymethylglutaryl-CoA lyase, mitochondrial	HMGCL	0	1	Unverricht-Lundborg syndrome X-linked dilated cardiomyopathy acute pancreatitis anemia blepharospasm brain disease cancer cardiac arrest congestive heart failure diarrhea dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy early myoclonic encephalopathy epilepsy focal hand dystonia hyperlysinemia hyperuricemia hypoglycemia hypoglycemic coma intellectual disability lactic acidosis learning disability leukopenia macrocytic anemia melanoma microcephaly mitochondrial metabolism disease mitochondrial myopathy obsolete infantile epileptic encephalopathy pancreatitis skin melanoma syndromic X-linked intellectual disability 94 thrombocytosis urea cycle disorder visual epilepsy
Q11203	CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase	ST3GAL3 SIAT6	3	3	Unverricht-Lundborg syndrome West syndrome agnosia amyotrophic lateral sclerosis attention deficit hyperactivity disorder autosomal recessive intellectual developmental disorder 12 autosomal recessive intellectual developmental disorder bipolar disorder blepharospasm brain cancer breast cancer breast carcinoma cancer cerebral degeneration cervical adenocarcinoma cervical cancer cervical squamous cell carcinoma cervix carcinoma choreatic disease congenital disorder of glycosylation depressive disorder developmental and epileptic encephalopathy 15 developmental coordination disorder diabetes mellitus dysthymic disorder dystonia early infantile epileptic encephalopathy early myoclonic encephalopathy embryoma epilepsy focal epilepsy focal hand dystonia hepatocellular carcinoma influenza intellectual disability learning disability lingual-facial-buccal dyskinesia liver cancer major depressive disorder melancholic depression microcephaly neurotic disorder obsolete infantile epileptic encephalopathy obsolete melancholia pancreatic adenocarcinoma partial motor epilepsy progressive muscular atrophy prostate cancer prostate carcinoma pterygium schizophrenia stereotypic movement disorder stomach cancer stomach carcinoma syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 type 2 diabetes mellitus visual epilepsy
Q9Y3A6	Transmembrane emp24 domain-containing protein 5	TMED5	0	1	T-cell acute lymphoblastic leukemia West Nile fever acute myocardial infarction adult T-cell leukemia/lymphoma breast cancer cancer central nervous system cancer chronic fatigue syndrome coronary thrombosis embryoma encephalitis encephalomyelitis exudative vitreoretinopathy 1 exudative vitreoretinopathy gliosarcoma hepatitis B hepatitis C hepatocellular carcinoma high grade glioma liver cancer melanoma mixed glioma multiple sclerosis myelitis myocardial infarction retinopathy of prematurity schizophrenia silent myocardial infarction skin melanoma
O75443	Alpha-tectorin	TECTA	30	0	Stickler syndrome X-linked nonsyndromic deafness autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness breast cancer herpes zoster obsolete autosomal recessive nonsyndromic deafness 105 sensorineural hearing loss trichohepatoenteric syndrome 1 trichohepatoenteric syndrome
Q16831	Uridine phosphorylase 1	UPP1 UP	0	1	Stevens-Johnson syndrome allergic contact dermatitis breast cancer cancer colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy embryoma esophagus squamous cell carcinoma giardiasis large intestine cancer lung adenoma middle cerebral artery infarction placental insufficiency stomach cancer stomach carcinoma thyroid adenoma thyroid cancer thyroid gland carcinoma tuberculosis type 2 diabetes mellitus
P37268	Squalene synthase	FDFT1	0	1	Smith-Lemli-Opitz syndrome X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata 2 acrodermatitis adenocarcinoma adenoma bronchus cancer bronchus carcinoma cancer cannabis abuse cannabis dependence cardiovascular system disease cataract chondrodysplasia punctata cocaine abuse cocaine dependence cribriform carcinoma dermatitis embryoma epilepsy familial hyperlipidemia familial mediterranean fever giant cell glioblastoma glioblastoma granular cell carcinoma heart disease hepatocellular carcinoma high grade glioma intellectual disability learning disability liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma melanoma mevalonic aciduria morbid obesity morphine dependence obesity phencyclidine abuse prostate cancer prostate carcinoma skin disease skin melanoma steatotic liver disease tubular adenocarcinoma visual cortex disease visual epilepsy
P30838	Aldehyde dehydrogenase, dimeric NADP-preferring	ALDH3A1 ALDH3	0	1	Sjogren-Larsson syndrome allergic asthma asthma breast adenocarcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cataract colon cancer colon carcinoma colonic benign neoplasm colorectal cancer depressive disorder dysthymic disorder embryoma giant cell glioblastoma glioblastoma head and neck squamous cell carcinoma hepatocellular carcinoma high grade glioma intrinsic asthma large intestine cancer liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma major depressive disorder melancholic depression melanoma mucoepidermoid carcinoma neurotic disorder obsolete congenital ichthyosiform erythroderma obsolete melancholia placental insufficiency pleomorphic adenoma prostate cancer prostate carcinoma pterygium sarcomatoid carcinoma schizophrenia skin melanoma stomach cancer
P11908	Ribose-phosphate pyrophosphokinase 2	PRPS2	1	1	Sertoli cell-only syndrome X-linked spermatogenic failure 1 Y-linked spermatogenic failure 1 cancer embryoma oligospermia systemic lupus erythematosus
Q9BY14	Testis-expressed protein 101	TEX101 SGRG	2	0	Sertoli cell-only syndrome X-linked spermatogenic failure 1 Y-linked spermatogenic failure 1 adenocarcinoma adenoma azoospermia basal cell carcinoma breast cancer breast ductal carcinoma cancer cribriform carcinoma embryoma granular cell carcinoma hepatocellular carcinoma liver cancer oligospermia tubular adenocarcinoma
Q6ZS10	C-type lectin domain family 17, member A	CLEC17A	3	0	Richter's syndrome chronic lymphocytic leukemia
O43699	Sialic acid-binding Ig-like lectin 6	SIGLEC6 CD33L CD33L1 OBBP1	5	2	Richter's syndrome chronic lymphocytic leukemia colorectal cancer colorectal carcinoma large intestine cancer subacute bacterial endocarditis systemic lupus erythematosus
Q8NCW6	Polypeptide N-acetylgalactosaminyltransferase 11	GALNT11	2	5	Richter's syndrome cancer chronic lymphocytic leukemia colorectal cancer colorectal carcinoma embryoma idiopathic scoliosis large intestine cancer
Q16775	Hydroxyacylglutathione hydrolase, mitochondrial	HAGH GLO2 HAGH1	0	1	Rett syndrome autism spectrum disorder autistic disorder autosomal dominant polycystic kidney disease cancer carcinoma clear cell adenocarcinoma inflammatory breast carcinoma kidney failure lung cancer lung non-small cell carcinoma polycystic kidney disease 1 prostate cancer prostate carcinoma rheumatoid arthritis sarcomatoid carcinoma schizophrenia uremia
Q9Y2I2	Netrin-G1	NTNG1 KIAA0976 LMNT1	4	2	Rett syndrome anorexia nervosa autistic disorder bipolar disorder brain disease cancer cerebral infarction cerebrovascular disease cocaine abuse cocaine dependence colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma epilepsy esophagitis gastroesophageal reflux disease head and neck squamous cell carcinoma hydrocephalus intellectual disability large intestine cancer learning disability lingual-facial-buccal dyskinesia microcephaly morphine dependence movement disease nephrolithiasis neuroendocrine carcinoma neuroendocrine tumor neuropathy patent ductus arteriosus peptic esophagitis peripheral nervous system disease polyneuropathy schizophrenia sensorineural hearing loss uric acid nephrolithiasis visual epilepsy
Q9NST1	1-acylglycerol-3-phosphate O-acyltransferase PNPLA3	PNPLA3 ADPN C22orf20	2	1	Phelan-McDermid syndrome Wernicke-Korsakoff syndrome Wilson disease Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acute lymphoblastic leukemia adrenoleukodystrophy adult hepatocellular carcinoma adult liposarcoma alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis allergic asthma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis bipolar disorder cancer cardiovascular system disease carotid artery disease celiac disease childhood hepatocellular carcinoma childhood liposarcoma cholecystolithiasis choledocholithiasis cholelithiasis chronic kidney disease congenital hypothyroidism coronary artery disease diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma familial hyperlipidemia gallbladder disease gestational diabetes glucose intolerance heart disease hemochromatosis type 1 hemochromatosis hepatitis B hepatitis C hepatitis hepatocellular carcinoma human immunodeficiency virus infectious disease hyperglycemia hyperinsulinism hypertrophic cardiomyopathy 1 hypothyroidism inflammatory bowel disease intrahepatic cholestasis of pregnancy intrinsic asthma iron metabolism disease kidney failure liposarcoma liver cancer liver carcinoma liver cirrhosis liver disease lymphoblastic lymphoma metabolic dysfunction-associated steatotic liver disease mood disorder morbid obesity myxedema obesity obsolete type 1 diabetes mellitus 9 osteoarthritis pleomorphic liposarcoma polycystic ovary syndrome portal hypertension prediabetes syndrome premenstrual tension primary biliary cholangitis primary sclerosing cholangitis sclerosing cholangitis steatotic liver disease type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus viral infectious disease
Q13454	Tumor suppressor candidate 3	TUSC3 N33	2	2	Peutz-Jeghers syndrome agnosia autosomal recessive intellectual developmental disorder 7 autosomal recessive intellectual developmental disorder bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer cerebral degeneration childhood osteosarcoma chondrosarcoma choreatic disease chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital disorder of glycosylation depressive disorder developmental coordination disorder dysthymic disorder dystonia embryoma epilepsy esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma focal epilepsy giant cell glioblastoma glioblastoma gliosarcoma hemochromatosis type 1 hemochromatosis hepatocellular carcinoma high grade glioma inflammatory bowel disease 1 inflammatory bowel disease intellectual disability large intestine cancer learning disability lingual-facial-buccal dyskinesia liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma major depressive disorder melancholic depression microcephaly mixed glioma neurotic disorder nonpapillary renal cell carcinoma obsolete infantile epileptic encephalopathy obsolete melancholia osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma partial motor epilepsy prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma schizophrenia squamous cell carcinoma stereotypic movement disorder syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 tongue squamous cell carcinoma ulcerative colitis visual epilepsy von Hippel-Lindau disease
Q9Y2G5	GDP-fucose protein O-fucosyltransferase 2	POFUT2 C21orf80 FUT13 KIAA0958	3	11	Peters plus syndrome congenital disorder of glycosylation malaria popliteal pterygium syndrome schizophrenia

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