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2711
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Sarcosine dehydrogenase |
BPR-2, DMGDHL1, SAR, SARD, SDH |
Congenital blindness, Developmental delay, Dyslexia, Dyssomnia, Hypertrophic cardiomyopathy, Mental retardation, Mood swings, Motor delay, Movement disorders, Optic atrophy, Pulmonary stenosis, Sarcosinemia, Seizure, Sleep disorders, Strabismus |
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2712
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Dentin matrix acidic phosphoprotein 1 |
ARHP, ARHR, DMP-1 |
Acromesomelic dysplasia, Brachydactyly, Chondrodysplasia punctata, Craniosynostosis, Dwarfism, Enthesitis, Fibular hypoplasia and complex brachydactyly, Hearing loss, Hypophosphatemic rickets, Hypophosphatemic vitamin d refractory rickets, x-linked, Malabsorption syndrome, Multiple synostoses syndrome, Osteoarthritis of hip, Osteochondrodysplasia, Osteosclerosis, Phosphate diabetes, Polyarthritis, Renal hypophosphatemia, Rickets, Skeletal dysplasia, SymphalangismView all (6 more) |
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2713
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Dynamin 1 |
DEE31, DEE31A, DEE31B, DNM, EIEE31 |
Absence seizure, Attention deficit hyperactivity disorder, Autism, Cerebral atrophy, Developmental delay, Developmental regression, Dwarfism, Dyskinetic syndrome, Dysmorphic features, Epilepsy, Epileptic encephalopathy, Gastroesophageal reflux disease, Hypodontia, Hypotonic seizures, Lennox-gastaut syndrome, Mental retardation, Microcephaly, Myoclonic seizures, Neurodevelopmental disorders, Non-specifi epileptic encephalopathy, Nystagmus, Optic atrophy, Personality disorders, Ptosis, Schizophrenia, Seizure, Spasms x-linked, Speech delay, Status epilepticusView all (14 more) |
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2714
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Aggrecan |
AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK, SSOAOD |
Arthritis, Brachydactyly, Bronchospasm, Dwarfism, Dysmorphic features, Facioscapulohumeral muscular dystrophy, Frontal bossing, Hypoplasia of thumb, Macrocephaly, Malocclusion, Mesomelia, Micromelia, Multiple congenital anomalies, Osteoarthritis of hip, Osteochondritis dissecans, Rheumatoid arthritis, Rhizomelia, Short stature-advanced bone age osteoarthritis syndrome, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasiaView all (5 more) |
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2715
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DM1 protein kinase |
DM, DM1, DM1PK, DMK, MDPK, MT-PK |
Atrioventricular block, Cataract, Cerebral atrophy, Cholelithiasis, Congenital myotonic dystrophy, Cryptorchidism, Dysphagia, Facial paralysis, Hernia of abdominal wall, Hydrocephalus, Hypogonadism, Mental retardation, Lung carcinoma, Myotonic dystrophy, Steinert myotonic dystrophy, Strabismus, Testicular atrophyView all (2 more) |
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2716
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Doublesex and mab-3 related transcription factor 1 |
CT154, DMT1 |
46, xy complete gonadal dysgenesis, 46, xy sex reversal, Neoplasm, Embryonal neoplasm, Tumor, Gonadal dysgenesis, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Malignant neoplasm of testis, Malignant testicular germ cell tumor, Non-obstructive azoospermia, Polycystic ovary syndrome, Tumor of rete testis, Swyer syndrome, Testicular neoplasms, Testicular dysgenesis, Testicular germ cell tumorView all (2 more) |
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2717
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DM1 locus, WD repeat containing |
D19S593E, DMR-N9, DMRN9, gene59 |
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2718
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DNA replication helicase/nuclease 2 |
DNA2L, RTS4, hDNA2 |
Acquired kyphoscoliosis, Amyotrophy, Congenital kyphoscoliosis, Congenital ptosis, Developmental delay, Dwarfism, Ectopic kidney, External ophthalmoplegia, Facial paralysis, Mental depression, Mental retardation, Microcephaly, Micrognathism, Mitochondrial dna deletion syndrome, Mitochondrial myopathy, Myopathy, Pituitary dwarfism, Progressive external ophthalmoplegia, Progressive external ophthalmoplegia with mitochondrial dna deletions, Ptosis, Seckel syndrome, Sleep apnea, Spinal cord compressionView all (8 more) |
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2719
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Dynein axonemal heavy chain 5 |
CILD3, DNAHC5, HL1, KTGNR, PCD |
Asthenozoospermia, Asthma, Astigmatism, Bronchiectasis, Chronic obstructive pulmonary disease, Ciliary dyskinesia, Ciliopathies, Asplenia, Congenital pectus excavatum, Corneal astigmatism, Corneal dystrophy, Dysmorphic features, Bronchitis, Hearing loss, Hydrocephalus, Lung diseases, Multiple congenital anomalies, Nasal polyposis, Otitis media, Prostate cancer, Rhinitis, Scoliosis, Sinusitis, Situs ambiguus, Situs inversusView all (10 more) |
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2720
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Dynein axonemal heavy chain 6 |
DNHL1, Dnahc6, HL-2, HL2 |
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