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861
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Sortilin related receptor 1 |
C11orf32, LR11, LRP9, SORLA, SorLA-1, gp250 |
Alzheimer disease, Aphasia, Atrial fibrillation, Breast cancer, Cerebral cortical atrophy, Cholestasis, Cognitive disorder, Colorectal cancer, Dysgraphia, Hallucinations, Impaired cognition, Language disorders, Mental retardation, Oculomotor apraxia, Oculovestibuloauditory syndrome, Parkinson disease, Paroxysmal atrial fibrillation, Semantic dementiaView all (3 more) |
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862
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SOS Ras/Rac guanine nucleotide exchange factor 1 |
GF1, GGF1, GINGF, HGF, NS4, SOS-1 |
Abnormal dermatoglyphic pattern, Cubitus valgus, Atrial septal defect, Brachycephaly, Brachydactyly, Camptodactyly of fingers, Cardiofaciocutaneous syndrome, Cardiomyopathy, Cardiovascular abnormalities, Congenital epicanthus, Congenital pectus carinatum, Congenital pectus excavatum, Corticobasal degeneration, Costello syndrome, Cryptorchidism, Developmental delay, Dwarfism, Dysarthria, Dysmorphic features, Fibromatosis, Hearing loss, Hereditary gingival fibromatosis, High palate, Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Keratosis pilaris, Leopard syndrome, Lung adenocarcinoma, Cystic hygroma, Macrocephaly, Malignant uterine corpus neoplasm, Melanocytic nevus, Micrognathism, Multiple congenital anomalies, Multiple lentigines, Neck webbing, Nevus, Noonan syndrome, Noonan-like syndrome with loose anagen hair, Nystagmus, Patent foramen ovale, Proptosis, Ptosis, Pulmonary stenosis, Radioulnar synostosis, Scoliosis, Strabismus, Turner syndrome, male, Ventricular septal defectView all (34 more) |
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863
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SOS Ras/Rho guanine nucleotide exchange factor 2 |
NS9, SOS-2 |
Abnormal dermatoglyphic pattern, Aortic coarctation, Brachydactyly, Camptodactyly of fingers, Cardiofaciocutaneous syndrome, Cardiovascular diseases, Congenital pectus carinatum, Congenital pectus excavatum, Costello syndrome, Cryptorchidism, Dwarfism, Dysarthria, Hearing loss, Heart septal defects, High palate, Hydrops fetalis, Hyperkeratosis pilaris, Hypogonadotropic hypogonadism, Leopard syndrome, Cystic hygroma, Melanocytic nevus, Micrognathism, Neck webbing, Noonan syndrome, Noonan-like syndrome with loose anagen hair, Nystagmus, Proptosis, Ptosis, Pulmonary stenosis, Radioulnar synostosis, Scoliosis, StrabismusView all (17 more) |
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864
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SRY-box transcription factor 2 |
ANOP3, MCOPS3 |
Accessory rib, Agenesis of corpus callosum, Anophthalmia/microphthalmia-esophageal atresia syndrome, Autism, Urinary bladder cancer, Bladder neoplasm, Brain neoplasms, Intracranial neoplasm, Carcinoma, Congenital coloboma of iris, Rib fusion, Congenital hypoplasia of penis, Congenital ocular coloboma, Cryptorchidism, Developmental delay, Diabetes insipidus, Disorder of eye, Dwarfism, Dyssomnia, Esophageal atresia, Esophagus neoplasm, Frontal bossing, Hearing loss, Hemiplegia/hemiparesis, Holoprosencephaly, Hydrocephalus, Hypogonadotropic hypogonadism, Hypohidrosis, Hypoplasia of corpus callosum, Hypoplasia of spine, Hypoplasia of the optic nerve, Hypospadias, Hypothalamic hamartomas, Isolated microphthalmia-anophthalmia-coloboma, Isolated somatotropin deficiency, Kallmann syndrome, Spastic diplegia, Lung carcinoma, Lung neoplasms, Lung adenocarcinoma, Lung cancer, Mental retardation, Microcephaly, Microphthalmia, Syndromic microphthalmia, Microphthalmos, Multiple congenital anomalies, Nystagmus, Obesity, Optic nerve hypoplasia and abnormalities of the central nervous system, Patent ductus arteriosus, Penis agenesis, Prostatic neoplasms, Prostate cancer, Retinitis pigmentosa, Rubral tremor, Sarcoma, Sclerocornea, Hypothyroidism, Septo-optic dysplasia, Sleep disorders, Spastic quadriplegia, Specific learning disorder, Strabismus, Thoracic neoplasms, Ventricular septal defectView all (51 more) |
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865
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|
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SRY-box transcription factor 3 |
GHDX, MRGH, PHP, PHPX, SOXB |
46, xx gonadal sex reversal, 46, xy sex reversal, Agenesis of corpus callosum, Ambiguous genitalia, Autism, Congenital hypertrichosis, x-linked, Congenital hypoplasia of penis, Cryptorchidism, Developmental delay, Diabetes insipidus, Dwarfism, Dyssomnia, Ectopic anterior pituitary gland, Esophageal atresia, Hearing loss, Hemiplegia/hemiparesis, Hypertrichosis, Hypoglycemia, Hypogonadotropic hypogonadism, Hypohidrosis, Hypothyroidism, Intellectual disability with growth hormone deficiency, x-linked, Isolated somatotropin deficiency, Kallmann syndrome, Mental retardation, Non-acquired panhypopituitarism, Nystagmus, Obesity, Osteopenia, Osteoporosis of vertebrae, Panhypopituitarism, Panhypopituitarism, x-linked, Pituitary dwarfism, Polycystic ovary syndrome, Septo-optic dysplasia, Sleep disorders, Somatotropin deficiency, Strabismus, Testicular hypogonadism, Xx malesView all (25 more) |
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866
|
|
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SRY-box transcription factor 4 |
CSS10, EVI16, IDDSDF |
Adenocarcinoma, Camptodactyly of fingers, Cataract, Clinodactyly, Coffin-siris syndrome, Facial dysmorphism, Congenital diaphragmatic hernia, Congenital epicanthus, Congestive heart failure, Cryptorchidism, Cutis marmorata, Dandy-walker syndrome, Developmental delay, Dwarfism, Dysphagia, Ectopic kidney, Heart failure, Hydronephrosis, Hypoplasia of corpus callosum, Macrostomia, Mental retardation, Microcephaly, Myocardial infarction, Nystagmus, Partial agenesis of corpus callosum, Posteriorly rotated ear, Ptosis, Salivary gland neoplasm, Malignant neoplasm of salivary gland, Scoliosis, Spina bifida occulta, Strabismus, Ventricular septal defectView all (18 more) |
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867
|
|
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SRY-box transcription factor 5 |
L-SOX5, L-SOX5B, L-SOX5F, LAMSHF |
12p12.1 microdeletion syndrome, Anxiety disorder, Atrial fibrillation, Attention deficit hyperactivity disorder, Autism spectrum disorder, Azoospermia, Clinodactyly, Congenital epicanthus, Congenital pectus carinatum, Developmental and speech delay, Developmental delay, Epileptic encephalopathy, Exotropia, Frontal bossing, Gastroesophageal reflux disease, Iron deficiency anemia, Lamb-shaffer syndrome, Mental depression, Mental retardation, Motor delay, Myopia, Non-obstructive azoospermia, Optic atrophy, Paroxysmal atrial fibrillation, Polycystic ovary syndrome, Posteriorly rotated ear, Schizophrenia, Scleroderma, Scoliosis, Stereotyped behavior, Strabismus, Syndactyly of the toes, Thoracolumbar scoliosisView all (18 more) |
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868
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|
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SRY-box transcription factor 9 |
CMD1, CMPD1, ENH13, SRA1, SRXX2, SRXY10, TES, TESCO |
46, xx ovotesticular disorder of sex development, 46, xx gonadal sex reversal, 46, xy complete gonadal dysgenesis, 46, xy partial gonadal dysgenesis, Acampomelic campomelic dysplasia, Acquired kyphoscoliosis, Ambiguous genitalia, Anaplastic carcinoma, Anonychia, Autism spectrum disorder, Azoospermia, Blepharophimosis, Congenital alveolar dysplasia, Campomelic dysplasia, Campomelic dysplasia with autosomal sex reversal, Carcinoma, Congenital clubfoot, Congenital anomaly of the hand, Congenital heart defects, Congenital hypoplasia of penis, Congenital kyphoscoliosis, Cryptorchidism, Dwarfism, Dysmorphic features, Glossoptosis, Gonadal dysgenesis, Gynecomastia, Hydrocephalus, Hydronephrosis, Hypertrophy of clitoris, Hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of vagina, Hypospadias, Pierre-robin syndrome, Laryngomalacia, Lung neoplasms, Lung cancer, Macrocephaly, Male pseudohermaphroditism, Mental depression, Mental retardation, Micrognathism, Nephroblastoma, Nephrotic syndrome, Osteoporosis, Ovarian gonadoblastoma, Penis agenesis, Physiologic amenorrhea, Polycystic ovary syndrome, Proptosis, Scoliosis, Streak ovary, Swyer syndrome, Testicular dysgenesis, Testicular gonadoblastoma, Testicular hypogonadism, Testicular regression syndrome, Thoracic hypoplasia, Tracheobronchomalacia, True hermaphroditism, Uterine anomalies, Xx malesView all (48 more) |
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869
|
|
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SRY-box transcription factor 10 |
DOM, PCWH, SOX-10, WS2E, WS4, WS4C |
Alacrima, Anomalous pulmonary artery, Arthrogryposis multiplex congenita, Breast hypoplasia, Congenital pectus excavatum, Cryptorchidism, Demyelinating neuropathy, Demyelinating sensory neuropathy, Developmental delay, Distal amyotrophy, Dysarthria, Dysautonomia, Gynecomastia, Hearing loss, Hirschsprung disease, Hypogonadism, Hypogonadotropic hypogonadism, Hypohidrosis, Hypopituitarism, Hypoplasia of iris, Hypoplasia of the olfactory bulb, Ichthyosis, Ileus, Intestinal obstruction, Kallmann syndrome, Long-segment aganglionic megacolon, Mental retardation, Microcolon, Mirror movements, Multicystic renal dysplasia, Hypotonia, Nervous system diseases, Nystagmus, Obesity, Osteochondrodysplasia, Paraplegia, Penis agenesis, Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease, Physiologic amenorrhea, Ptosis, Renal agenesis, Schizophrenia, Skeletal dysplasia, Spastic quadriplegia, Synophrys, Waardenburg syndrome, Yemenite deaf-blind hypopigmentation syndromeView all (32 more) |
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870
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|
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SRY-box transcription factor 11 |
CSS9, IDDMOH, MRD27 |
Adenocarcinoma, Autism, Cataract, Clinodactyly, Coffin-siris syndrome, Congenital diaphragmatic hernia, Congenital epicanthus, Cryptorchidism, Cutis marmorata, Dandy-walker syndrome, Developmental delay, Dwarfism, Ectopic kidney, Hydronephrosis, Hypertrichosis, Hypoplasia of corpus callosum, Macrostomia, Mental retardation, Microcephaly, Multiple congenital anomalies, Nystagmus, Partial agenesis of corpus callosum, Posteriorly rotated ear, Ptosis, Salivary gland neoplasm, Malignant neoplasm of salivary gland, Scoliosis, Spina bifida occulta, Strabismus, Temporal hypotrichosisView all (15 more) |
