1611
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Purine nucleoside phosphorylase |
NP, PRO1837, PUNP |
Curated: Alzheimer disease, Hearing loss, Osteoporosis, Severe combined immunodeficiency, purine nucleoside phosphorylase deficiency
Unreviewed: N/A
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1612
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Patatin like domain 1, omega-hydroxyceramide transacylase |
ARCI10, dJ50J22.1 |
Curated: Congenital ichthyosis, Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Lamellar ichthyosis, Psychiatric disorders, Xeroderma
Unreviewed: Alopecia, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Congenital Ichthyosis, Congenital Nonbullous Ichthyosiform Erythroderma, Corneal erosion, Dwarfism, Ectropion, Esophageal squamous cell carcinoma, Exfoliative Dermatitis, Hypohidrosis, Hypoxia, Ichthyosis Congenita, Ichthyosis with hypotrichosis, Keratitis, Obesity, Palmoplantar keratoderma, Triglyceride Storage Disease With Ichthyosis
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1613
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Patatin like phospholipase domain containing 10 pseudogene |
- |
Curated: N/A
Unreviewed: N/A
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1614
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Patatin like domain 2, triacylglycerol lipase |
1110001C14Rik, ATGL, FP17548, PEDF-R, TTS-2.2, TTS2, iPLA2zeta |
Curated: Congestive heart failure, Fuchs endothelial dystrophy, Heart disease, Heart failure, Hypertrophy, Keratoconus, Left ventricular disease, Myopathy, Nonalcoholic fatty liver disease, Polycystic ovary syndrome, Ventricular dysfunction, neutral lipid storage myopathy
Unreviewed: Acanthosis Nigricans, Adenocarcinoma, Adenocarcinoma Of Rectum, Age-related macular degeneration, Arteriosclerosis, Atherosclerosis, Atrophy, Bladder carcinoma, Bladder Neoplasm, Bone Disease, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cardiomyopathy, Cardiovascular Diseases, Celiac disease, Cholecystitis, Ciliary dyskinesia, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital abnormalities, Congenital Ichthyosis, Congenital Lipodystrophy, Congestive Heart Failure, Coronary artery disease, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Nephropathy, Diabetic neuropathy, Diabetic Retinopathy, Disorder Of Eye, Distal myopathy, Dwarfism, Dyslipidemias, Dysmorphic Features, Endometrial Hyperplasia, Erectile Dysfunction, Exudative Macular Degeneration, Fatty Liver, Gestational diabetes, Glioma, Glycogen Storage Disease, Hearing Loss, Heart Diseases, Heart Failure, Hemangioma, Hepatoblastoma, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Hyperinsulinism, Hyperlipidemia, Hyperlipoproteinemia, Ichthyosis, Kidney Failure, Leiomyosarcoma, Leukostasis, Limb Muscle Atrophy, Lipid Metabolism Disorders, Lipodystrophy, Liposarcoma, Liver carcinoma, Liver neoplasms, Lung Cancer, Lung carcinoma, Malignant Neoplasm, Melanoma, Mental Depression, Mental retardation, Metabolic Diseases, Metabolic Myopathy, Metabolic Syndrome, Metastatic Prostate Carcinoma, Microphthalmos, Mitochondrial disease, Motor delay, Myeloid leukemia, Myopathy With Abnormal Lipid Metabolism, Myotonia, Myotonia congenita, Nasopharyngeal Carcinoma, Neoplasms, Nephroblastoma, Nervous System Diseases, Neuromuscular disease, Neutral lipid storage myopathy, Non-Alcoholic Fatty Liver Disease, Obesity, Osteogenesis Imperfecta, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatitis, Peripheral nervous system disease, Polycystic Ovary Syndrome, Proliferative Diabetic Retinopathy, Promyelocytic Leukemia, Prostate cancer, Prostatic neoplasm, Rectal Carcinoma, Renal Carnitine Transport Defect, Retinal Diseases, Retinitis Pigmentosa, Retinoblastoma, Retinopathy, Rhabdomyosarcoma, Rheumatoid arthritis, Schizophrenia, Sclerocystic Ovaries, Septicemia, Squamous cell carcinoma, Stomach Carcinoma, Syndromic microphthalmia, Triglyceride Deposit Cardiomyovasculopathy, Triglyceride Storage Disease With Ichthyosis, Triple negative breast cancer, Urinary bladder cancer, Uterine neoplasm, Vitiligo
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1615
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Patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase |
ADPN, C22orf20, iPLA(2)epsilon |
Curated: Biliary tract cancer, Brain disease, Cholecystolithiasis, Ischemic heart disease, Liver cirrhosis, Coronary artery disease, Diabetes mellitus, Diabetes mellitus type 2, Diabetic eye disease, Diabetic retinopathy, Digestive system disease, Esophageal varices, Fatty liver, Fatty liver, alcoholic, Gallstones, Gastrointestinal disease, Gout, Hemorrhagic disease, Hepatocellular carcinoma, Hypogonadism, Aplastic anemia, Intrahepatic bile duct cancer, Iron metabolism disorder, Liver cancer, Liver disease, Liver neoplasms, Metabolic syndrome, Myocardial ischemia, Nonalcoholic fatty liver disease, Peripheral arterial disease, Portal hypertension, Thrombocytopenia
Unreviewed: 22q13.3 deletion syndrome, Adrenoleukodystrophy, Alcoholic hepatitis, Alcoholic Liver Cirrhosis, Arteriosclerosis, Arthritis, Asthma, Atherosclerosis, Autoimmune hepatitis, Biliary Cirrhosis, Bipolar Disorder, Brain infarction, Capsular cataract, Cardiomyopathy, Cardiovascular disease, Cardiovascular Diseases, Carotid artery disease, Carotid artery stenosis, Carotid Atherosclerosis, Celiac disease, Cerebrovascular disorder, Childhood obesity, Cholelithiasis, Cholestasis of pregnancy, Chronobiology disorder, Cirrhosis, Complete Atrioventricular Block, Coronary Heart Disease, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 1, Diabetes mellitus, type 2, Dyslipidemias, End Stage Liver Disease, Fatty Liver, Gestational diabetes, Heart failure, Hemochromatosis, Hepatic encephalopathy, Hepatitis b, Hepatitis c, Hepatolenticular Degeneration, Hereditary Hemochromatosis, Hyperbilirubinemia, Hyperglycemia, Hyperinsulinism, Hyperlipidemia, Hypertension, Hypertriglyceridemia, Hypoglycemia, Hypothyroidism, Inflammatory Bowel Disease, Intrahepatic cholestasis of pregnancy, Kidney Disease, Kidney neoplasm, Liposarcoma, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver failure, Liver Fibrosis, Lobular carcinoma, Lymphoblastic Leukemia, Lymphocytic Leukemia, Malignant Neoplasm, Metabolic Diseases, Metabolic Syndrome, Mitochondrial disease, Mood Disorder, Myocardial Ischemia, Myotonic dystrophy, Non-Alcoholic Fatty Liver Disease, Obesity, Pancreatitis, Polycystic Ovary Syndrome, Portal Hypertension, Pruritus, Pseudohyperkalemia Cardiff, Psoriasis, Renal Insufficiency, Rosacea, Sclerosing Cholangitis, Septal Hypertrophy, Spherocytosis, Vascular system injury, Vitamin a deficiency
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1616
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Patatin like domain 4, phospholipase and triacylglycerol lipase |
DXS1283E, GS2, iPLA2eta |
Curated: Cortical development malformation
Unreviewed: Asthma, Developmental Delay, Diabetic neuropathy, Gastritis, Gastrointestinal disease, Hemolytic anemia, Hemophagocytic lymphohistiocytosis, Mitochondrial disease, Multiple myeloma, Obesity
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1617
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Patatin like phospholipase domain containing 4 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
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1618
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Patatin like domain 5, triacylglycerol lipase |
GS2L, dJ388M5, dJ388M5.4 |
Curated: N/A
Unreviewed: Hypercholesterolemia, Hyperlipoproteinemia
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1619
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Patatin like domain 6, lysophospholipase |
BNHS, LNMS, NTE, NTEMND, OMCS, SPG39, iPLA2delta, sws |
Curated: Amyotrophic lateral sclerosis, Ataxia-hypogonadism-choroidal dystrophy syndrome, Spastic paraplegia, Boucher-neuhauser syndrome, Cerebellar ataxia, Cerebellar ataxia and hypogonadotropic hypogonadism, Cerebellar ataxia-hypogonadism, Cerebellar atrophy, Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome, Desbuquois syndrome, Dysarthria, Female infertility, Hypogonadotropic hypogonadism, Kallmann syndrome, Motor neuron disease, Mucolipidosis, Nervous system disease, Non-neoplastic peripheral nervous system disease, Optic atrophy, Peripheral nervous system disease, Peripheral neuropathy, Polyneuropathy, Retinitis pigmentosa, Rod-cone dystrophy, Spastic ataxia, Hereditary spastic paraplegia, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome, PNPLA6-related spastic paraplegia with or without ataxia
Unreviewed: Accessory Nipple, Alopecia, Amyotrophic Lateral Sclerosis, Angina pectoris, Anterior Horn Cell Disease, Ataxia, Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome, Atrophy of the spinal cord, Bone Disease, Brachycephaly, Brachydactyly, Brooke-Spiegler Syndrome, Camptodactyly of fingers, Cardiovascular disease, Cataract, Cerebellar Ataxia-Hypogonadism Syndrome, Cerebellar diseases, Charcot-Marie-Tooth disease, Chorioretinal dystrophy, Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism, Choroideremia, Colorectal neoplasm, Common Migraine, Cone monochromatism, Congenital Coloboma Of Iris, Congenital Epicanthus, Congenital Hepatic Fibrosis, Congenital Hypoplasia Of Penis, Congenital Ichthyosis, Cryptorchidism, Dementia, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Nephropathy, Distal amyotrophy, Dwarfism, Epilepsy, Fatty Liver, Gordon Holmes syndrome, Gynecomastia, Hearing Loss, Hemangioma, Hemiplegia/hemiparesis, Henoch-Schonlein Nephritis, Hereditary spastic paraplegia, X-linked, Hypersomnia, Hypogonadism, Hypogonadotropic Hypogonadism, Ichthyosis, Isolated Somatotropin Deficiency, Jaundice, Lateral Sclerosis, Laurence-Moon Syndrome, Leber Congenital Amaurosis, Limb Muscle Atrophy, Lipomatosis, Liver Fibrosis, Malignant Neoplasm, Mental Depression, Mental retardation, Motor neuron atrophy, Motor Neuron Disease, Nervous System Diseases, Nervous System Disorder, Neuroblastoma, Neurodegenerative disorder, Neurodegenerative Disorders, Neuropathy, Nystagmus, Obesity, Oliver-McFarlane Syndrome, Optic Atrophy, Paraplegia, Parkinson disease, Penis Agenesis, Peripheral axonal neuropathy, Polydactyly, Renal Insufficiency, Retinal degeneration, Retinal Dystrophy, Retinitis Pigmentosa, SEBASTIAN SYNDROME, Sick Building Syndrome, Somatotropin Deficiency, Spastic Paraplegia, Speech Disorders, Spinocerebellar Ataxia, Strabismus, Sturge-Weber Syndrome, Stuve-Wiedemann syndrome, Syndactyly of fingers, Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome, Troyer Syndrome, Visual disorder
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1620
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Patatin like domain 7, lysophospholipase |
C9orf111, NTE-R1, NTEL1 |
Curated: Alzheimer disease, Mulibrey nanism, Premature ovarian failure, Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
Unreviewed: Colorectal neoplasm, Hepatocellular carcinoma, Hypertension, Osteoporosis
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