|
331
|
|
|
HAUS augmin like complex subunit 7 |
UCHL5IP, UIP1 |
|
|
332
|
|
|
Hypoxia inducible factor 1 subunit alpha inhibitor |
FIH1 |
|
|
333
|
|
|
Hedgehog acyltransferase |
MART2, NNMS, SKI1, Skn |
Ankylosing spondylitis, Blepharophimosis, Chondrodysplasia-disorder of sex development syndrome, Chondrodysplasia-pseudohermaphroditism syndrome, Dwarfism, Fundus coloboma, Gastrointestinal stromal tumor, Hyperostosis of skull, Hypoplasia of iris, Macrotia, Male pseudohermaphroditism, Mental retardation, Microcephaly, Micromelia, Miosis disorder, Multiple congenital anomalies, Retinal coloboma, Schizophrenia, StrabismusView all (4 more) |
|
334
|
|
|
HR lysine demethylase and nuclear receptor corepressor |
ALUNC, AU, HSA277165, HYPT4, MUHH, MUHH1 |
Absent eyebrow, Alopecia, Alopecia areata, Alopecia universalis congenita, Alopecia, male pattern, Androgenetic alopecia, Atrichia with papular lesions, Colorectal cancer, Hereditary hypotrichosis, Hypotrichosis, Marie unna hypotrichosis, Pseudopelade |
|
335
|
|
|
Histone deacetylase 8 |
CDA07, CDLS5, HD8, HDACL1, KDAC8, MRXS6, RPD3, WTS |
Accessory nipple, Anxiety disorder, Arachnoid cyst, Atrial septal defect, Atrioventricular septal defect, Attention deficit hyperactivity disorder, Autism, Brachycephaly, Brachydactyly, Camptodactyly of fingers, Cataract, Cerebral cortical atrophy, Choanal atresia, Congenital diaphragmatic hernia, Congenital hypoplasia of penis, Congenital malrotation of intestine, Congenital pectus excavatum, Cornelia de lange syndrome, Cryptorchidism, Cutis marmorata, Developmental delay, Dwarfism, Dysmorphic features, Dyssomnia, Gastroesophageal reflux disease, Glaucoma, Gynecomastia, Hearing loss, High palate, Hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of nipple, Hypospadias, Imperforate anus, Mental retardation, Intestinal volvulus, Macrotia, Mental retardation, x-linked, Microcephaly, Microcornea, Micrognathism, Micromelia, Microtia, Mood swings, Multicystic renal dysplasia, Multiple congenital anomalies, Myopia, Nervous system diseases, Nevus, Nystagmus, Obsessive-compulsive disorder, Oligodactyly, Penis agenesis, Phthisis bulbi, Physiologic amenorrhea, Polycystic kidney disease, Ptosis, Radioulnar synostosis, Renal insufficiency, Sleep disorders, Specific learning disorder, Speech disorders, Strabismus, Syndactyly of the toes, Synophrys, Talipes, Tetralogy of fallot, Uterine anomalies, Ventricular septal defect, Vesicoureteral reflux, Wilson-turner syndromeView all (56 more) |
|
336
|
|
|
HtrA serine peptidase 1 |
ARMD7, CADASIL2, CARASIL, HtrA, L56, ORF480, PRSS11 |
Age-related macular degeneration, Alopecia, Cadasil syndrome, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy and migraine, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral microangiopathy, Cerebral small vessel disease, Coronary artery disease, Dementia, Dysarthria, Exudative macular degeneration, Vascular leukoencephalopathy, Impaired cognition, Intervertebral disc degeneration, Leukoencephalopathy, Lung neoplasms, Lung cancer, Malignant peripheral nerve sheath tumor, Moyamoya disease, Neurofibrosarcoma, Status cribrosum, Stroke, Subcortical infarcts, Transient ischemic attackView all (9 more) |
|
337
|
|
|
Hydatidiform mole associated and imprinted |
NCRNA00020 |
Apraxia, Arthrogryposis multiplex congenita, Congenital alveolar dysplasia, Congenital exomphalos, Congenital heart defects, Cryptorchidism, Developmental delay, Diabetes mellitus, High palate, Hyperglycemia, Ketonuria, Macroglossia, Mental retardation, Micrognathism, Motor delay, Myoclonic seizures, Patent ductus arteriosus, Paternal uniparental disomy of chromosome 6, Precocious puberty, Renal tubular disorder, Seizure, Ventricular septal defectView all (7 more) |
|
338
|
|
|
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 |
NDHSAL, NEDL2 |
Autism, Cerebral atrophy, Congenital epicanthus, Developmental delay, Dysmorphic features, Hand flapping, Macrostomia, Macrotia, Mental retardation, Neurodevelopmental disorder with hypotonia, seizures, and absent language, Nystagmus, Schizophrenia |
|
339
|
|
|
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 |
SPPRS |
Cerebral atrophy, Developmental delay, Developmental regression, Dwarfism, Dysarthria, Exophoria, Focal myoclonic seizures, Hearing loss, Hypoplasia of corpus callosum, Mental retardation, Microcephaly, Multiple sclerosis, Myoclonic seizures, Myopia, Nervous system neoplasms, Neural crest tumor, Neuroblastoma, Obesity, Retinal dystrophy, Scoliosis, Seizure, Spastic paraplegia, Spastic paraplegia and psychomotor retardation with or without seizures, Spastic paraplegia-severe developmental delay-epilepsy syndrome, StrabismusView all (10 more) |
|
340
|
|
|
Hepcidin antimicrobial peptide |
HEPC, HFE2B, LEAP1, PLTR |
Anemia, Arthropathy, Beta thalassemia, Biliary atresia, Cardiomyopathy, Cirrhosis, Congenital hepatic fibrosis, Congestive heart failure, Cooley`s anemia, Diabetes mellitus, Erectile dysfunction, Extrahepatic biliary atresia, Heart failure, Hemochromatosis, Hemoglobinopathy, Hepatolenticular degeneration, Hereditary hemochromatosis, Hypogonadism, Iron overload, Kidney neoplasm, Kidney cancer, Kidney failure, Liver carcinoma, Osteoporosis, ThalassemiaView all (10 more) |
