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121
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7-dehydrocholesterol reductase |
SLOS |
7-dehydrocholesterol reductase deficiency, Abnormal dermatoglyphic pattern, Allanson pantzar mcleod syndrome, Ambiguous genitalia, Aortic coarctation, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Brachydactyly, Cataract, Choanal atresia, Cholestatic liver disease, Congenital clubfoot, Congenital coloboma of iris, Congenital diaphragmatic hernia, Congenital epicanthus, Pulmonary hypoplasia, Congenital hypoplasia of penis, Congenital malrotation of intestine, Congenital microcephaly, Cryptorchidism, Cutis marmorata, Dandy-walker syndrome, Developmental delay, Dwarfism, Dysmorphic features, Eczema, Foot polydactyly, Congenital gallbladder anomaly, Gastroesophageal reflux disease, Gastroschisis, Glaucoma, Hearing loss, Hirschsprung disease, Holoprosencephaly, Hydrocephalus, Hydronephrosis, Hypertrophy of clitoris, Hypocholesterolemia, Hypoplasia of corpus callosum, Hypoplasia of the optic nerve, Hypoplasia of thumb, Hypospadias, Impaired cognition, Liver cirrhosis, Liver fibrosis, Macrostomia, Mental retardation, Mesomelia, Metabolic bone disorder, Microcephaly, Microglossia, Micrognathism, Micromelia, Movement disorders, Multicystic renal dysplasia, Multiple congenital anomalies, Nephritis, Nystagmus, Optic atrophy, Osteopenia, Otitis media, Partial or complete agenesis of corpus callosum, Patent ductus arteriosus, Penis agenesis, Periventricular nodular heterotopia, Posteriorly rotated ear, Precocious puberty, Proptosis, Ptosis, Pulmonary stenosis, Renal agenesis, Renal aplasia, Renal cyst, Renal hypoplasia, Rhizomelia, Postaxial polydactyly of hands, Sclerocornea, Scoliosis, Smith-lemli-opitz syndrome, Strabismus, Syndactyly, Syndactyly of fingers, Syndactyly of the toes, Tracheal stenosis, Postaxial hand polydactyly, Ventricular septal defectView all (72 more) |
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122
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24-dehydrocholesterol reductase |
DCE, Nbla03646, SELADIN1, seladin-1 |
Absence of septum pellucidum, Agenesis of corpus callosum, Alzheimer disease, Ambiguous genitalia, Arthrogryposis multiplex congenita, Autism spectrum disorder, Congenital epicanthus, Congenital malrotation of intestine, Desmosterolosis, Developmental delay, Dwarfism, Frontal bossing, Hydrocephalus, Macrocephaly, Mental retardation, Microcephaly, Micrognathism, Micromelia, Microstomia, Nystagmus, Osteopetrosis, Pachygyria, Partial agenesis of corpus callosum, Patent ductus arteriosus, Polymicrogyria, Posteriorly rotated ear, Pulmonary venous return anomaly, Q fever, Renal agenesis, Rhizomelia, Senile dementia, Status epilepticus, Strabismus, Submucosal cleft palate, TalipesView all (20 more) |
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123
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|
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Dihydrofolate reductase |
DHFR1, DHFRP1, DYR |
Anemia, Autism, Breast cancer, Mammary neoplasms, Breast carcinoma, Cerebellar hypoplasia, Cerebral atrophy, Colorectal cancer, Colorectal neoplasms, Constitutional megaloblastic anemia with severe neurologic disease, Deficiency of dihydrofolate reductase, Developmental delay, Folic acid deficiency, Inborn errors of metabolism, Marfan syndrome, Megaloblastic anemia, Miscarriage, Nervous system disorder, Osteosarcoma, Pancytopenia, Rheumatoid arthritis, SubfertilityView all (7 more) |
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124
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|
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Dihydroorotate dehydrogenase (quinone) |
DHOdehase, POADS, URA1 |
Abnormal dermatoglyphic pattern, Accessory nipple, Anemia, Beta thalassemia, Choanal atresia, Developmental dysplasia of the hip, Congenital hypoplasia of radius, Congenital pectus excavatum, Cooley`s anemia, Cryptorchidism, Ectropion, Erythroblastic leukemia, Hearing loss, Hemoglobinopathy, Hereditary spherocytosis, Hypoplasia of thumb, Micrognathism, Microtia, Miller syndrome, Multicystic renal dysplasia, Narcolepsy, Peg-shaped teeth, Penis agenesis, Radioulnar synostosis, Strabismus, Supernumerary vertebra, Syndactyly, Syndactyly of fingers, ThalassemiaView all (14 more) |
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125
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|
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Deoxyhypusine synthase |
DHS, DS, MIG13, NEDSSWI |
|
|
126
|
|
|
Diaphanous related formin 1 |
DFNA1, DIA1, DRF1, LFHL1, SCBMS, hDIA1, mDia1 |
Central visual impairment, Deafness, Developmental delay, Dwarfism, Eczema, Epilepsy, Hearing loss, Hypoplasia of corpus callosum, Low-frequency hearing loss, Mental retardation, Microcephaly, Optic atrophy, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Seizures, cortical blindness, and microcephaly syndrome, Sensorineural hearing loss-thrombocytopenia syndrome |
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127
|
|
|
Diaphanous related formin 2 |
DIA, DIA2, DRF2, POF, POF2, POF2A |
|
|
128
|
|
|
Iodothyronine deiodinase 1 |
5DI, THMA2, TXDI1 |
|
|
129
|
|
|
Iodothyronine deiodinase 2 |
5DII, D2, DIOII, SELENOY, SelY, TXDI2 |
|
|
130
|
|
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Iodothyronine deiodinase 3 |
5DIII, D3, DIOIII, TXDI3 |
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