711
|
|
|
NIPA like domain containing 4 |
ARCI6, ICHTHYIN, ICHYN, NIPA4, SLC57A6 |
Curated: Congenital ichthyosis, Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyosiform erythroderma, Erythrokeratodermia variabilis, Lamellar ichthyosis
Unreviewed: Alopecia, Arthropathy, Congenital Ichthyosis, Congenital Nonbullous Ichthyosiform Erythroderma, Corneal erosion, Dwarfism, Ectropion, Exfoliative Dermatitis, Gangrene, Hyperkeratosis, Hypohidrosis, Hypotrichosis, Ichthyosis, Ichthyosis Congenita, Ichthyosis with hypotrichosis, Impaired Cognition, Keratitis, Osteogenesis imperfecta, Otitis media, Palmoplantar keratoderma, Papillary thyroid cancer, Parakeratosis, Renal Insufficiency
|
713
|
|
|
NIPBL cohesin loading factor |
CDLS, CDLS1, IDN3, IDN3-B, Scc2 |
Curated: Bone disease, Brachydactyly, Congenital diaphragmatic hernia, Congenital heart disease, Congenital hypoplasia of lung, Cornelia de lange syndrome, Craniofacial abnormalities, Cryptorchidism, De lange syndrome, Desbuquois syndrome, Global developmental delay, Headache, Congenital heart defects, Intellectual developmental disorder, Intellectual disability, Nephronophthisis, Neurodevelopmental disorder, Obesity, Oligodendroglioma, Orofacial cleft, Penile hypospadia, Right ventricular hypertrophy, Scoliosis, Tetralogy of fallot, Uranostaphyloschisis, Vesicoureteral reflux
Unreviewed: 5p13 Duplication Syndrome, Accessory Rib, Anophthalmia, Anxiety Disorder, Apraxia, Astigmatism, Atrial Septal Defect, Atrioventricular septal defect, Attention Deficit Hyperactivity Disorder, Autism, Blister, Bohring syndrome, Bone Disease, Brachycephaly, Breast Cancer, Breast Carcinoma, Breast neoplasm, Camptodactyly of fingers, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiovascular abnormalities, Cataract, Cerebral cortical atrophy, Choanal Atresia, Cholangiocarcinoma, Cockayne syndrome, Coffin-Siris Syndrome, Coloboma of optic disc, Colonic Neoplasms, Colorectal Neoplasms, Congenital anomaly of limb, Congenital heart defect, Congenital Hypoplasia Of Penis, Congenital Hypoplasia Of Radius, Congenital malrotation of intestine, Congenital Muscular Hypertrophy-Cerebral Syndrome, Congenital Pectus Excavatum, Cornelia De Lange Syndrome, Coronary Heart Disease, Corpus callosum agenesis, Cutis marmorata, Development Disorder, Developmental and epileptic encephalopathy, Developmental Delay, Developmental disability, Dislocated radial head, Dwarfism, Dyssomnia, Ectopic kidney, Elbow flexion contracture, Esophageal squamous cell carcinoma, Gastroesophageal Reflux Disease, Gastrointestinal neoplasm, Glaucoma, Gonadal Dysgenesis, Growth disorder, Head and neck neoplasm, Hearing Loss, Heart disease, Hiatal Hernia, High palate, Hodgkin Disease, Hypoplasia Of Nipple, Hypospadias, Intestinal Volvulus, Learning Disorders, Liver neoplasm, Lung Cancer, Lung carcinoma, Lymphatic metastasis, Macrotia, Male infertility, Malignant gastrointestinal tract tumors, Malignant Neoplasm, Malrotation of colon, Mental retardation, Microcephaly, Microcornea, Micrognathism, Micromelia, Multicystic renal dysplasia, Multiple Congenital Anomalies, Myopia, Neoplasms, Nephroblastoma, Nervous System Diseases, Nystagmus, Obsessive-Compulsive Disorder, Oligodactyly, Open angle glaucoma, Optic Atrophy, Oropharyngeal carcinoma, Otitis media, Penile Hypospadias, Phocomelia, Phthisis bulbi, Physiologic Amenorrhea, Proptosis, Psychiatric disorders, Ptosis, Pulmonary hypoplasia, Radioulnar Synostosis, Renal Insufficiency, Roberts syndrome, Roberts-SC Phocomelia Syndrome, Rubinstein-Taybi Syndrome, Sacrococcygeal teratoma, Situs ambiguus, Sleep Disorders, Speech Disorders, Spinocerebellar Ataxia, Strabismus, Syndactyly Of The Toes, Synophrys, Talipes, Tetralogy of Fallot, Tourette syndrome, Trichohepatoenteric Syndrome, Turner Syndrome, Urinary tract infection, Uterine Anomalies, Ventricular hypertrophy, Ventricular septal defect, Vesicoureteral Reflux, Wilms tumor
|
719
|
|
|
Nischarin |
I-1, IR1, IRAS, hIRAS |
Curated: Bradycardia, Breast neoplasms, Congestive heart failure, Diverticular disease, Gout, Heart failure, Hypotension, Schizophrenia
Unreviewed: Alzheimer disease, Anxiety Disorder, Arteriosclerosis, Atherosclerosis, Attention Deficit Hyperactivity Disorder, Bipolar Disorder, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Cardiovascular Diseases, Cone-rod dystrophy, Diabetes Mellitus, Diverticular Diseases, Heart Failure, Hypertension, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lymphatic metastasis, Malignant Neoplasm, Mammary Neoplasms, Marfan Syndrome, Melanoma, Mental Depression, Neoplasms, Obesity, Otitis media, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Stomach neoplasms, Triple Negative Breast Neoplasms
|