591
|
|
|
Solute carrier family 12 member 9 |
CCC6, CIP1, WO3.3, hCCC6 |
|
592
|
|
|
Solute carrier family 17 member 7 |
BNPI, VGLUT1 |
|
593
|
|
|
Solute carrier family 17 member 6 |
DNPI, VGLUT2 |
|
594
|
|
|
Small integral membrane protein 8 |
C6orf162, dJ102H19.2 |
|
595
|
|
|
Secreted LY6/PLAUR domain containing 1 |
ANUP, ARS, ArsB, LY6-MT, LY6LS, MDM |
Acroerythrokeratoderma, Brachydactyly, Congenital symmetrical palmoplantar keratosis, Hereditary palmoplantar keratoderma, Hyperkeratosis with erythema, Ichthyosis, Meleda disease, Mouth abnormalities, Onychogryposis, Palmoplantar keratoderma, Subungual hyperkeratosis |
596
|
|
|
Solute carrier family 44 member 2 (CTL2 blood group) |
CTL2, PP1292 |
|
597
|
|
|
Spalt like transcription factor 4 |
DRRS, HSAL4, IVIC, ZNF797 |
Abnormal dermatoglyphic pattern, Duane-radial ray syndrome, Atrial septal defect, Bladder diverticulum, Carpal synostosis, Cataract, Choanal atresia, Coloboma of optic disc, Congenital anomaly of limb, Congenital coloboma of iris, Congenital epicanthus, Congenital hypoplasia of radius, Congenital malrotation of intestine, Convergence insufficiency, Duane retraction syndrome, Duane syndrome, Dwarfism, Esophagus neoplasm, External ophthalmoplegia, Facial paralysis, Fundus coloboma, Hearing loss, Hirschsprung disease, Holt-oram syndrome, Horseshoe kidney, Hydronephrosis, Hypoplasia of optic disc, Hypoplasia of thumb, Imperforate anus, Oculootoradial syndrome, Malrotation of kidney, Microcornea, Microphthalmos, Nystagmus, Polydactyly, Ptosis, Radial polydactyly, Radioulnar synostosis, Renal agenesis, Renal hypoplasia, Retinal coloboma, Scoliosis, Spina bifida occulta, Strabismus, Syndactyly, Syndactyly of fingers, Syndactyly of the toes, Talipes, Tetralogy of fallot, Thumb aplasia, Ventricular septal defect, Vesicoureteral reflux, Wildervanck`s syndromeView all (38 more) |
598
|
|
|
Selenoprotein N |
CFTD, CMYO3, CMYP3, MDRS1, RSMD1, RSS, SELN, SEPN1 |
Acquired kyphoscoliosis, Amyotrophy, Bulbar palsy, Cardiomyopathy, Centronuclear myopathy, Centronuclear myopathy, x-linked, Congenital clubfoot, Developmental dysplasia of the hip, Congenital myopathy with fiber type disproportion, Pulmonary hypoplasia, Congenital hypoplasia of radius, Congenital kyphoscoliosis, Congenital muscular dystrophy, Congenital myopathy, Congenital pectus excavatum, Congenital structural myopathy, Congestive heart failure, Contracture of hamstring, Cryptorchidism, Desmin-related myopathy with mallory body-like inclusions, Developmental delay, Dwarfism, Dysphagia, Eichsfeld type congenital muscular dystrophy, Elbow flexion contracture, Facial paralysis, Flexion contracture of hip, Gastroparesis, Heart failure, High palate, Hip contracture, Malocclusion, Mental retardation, Micrognathism, Mitral valve prolapse, Motor delay, Multiminicore myopathy, Muscular dystrophy, Myopathy, Hypotonia, Ptosis, Rigid spine syndrome, Scoliosis, Sleep apnea, Tubular aggregate myopathy, Velopharyngeal insufficiency, Ventricular failure, Ventricular hypertrophyView all (33 more) |
599
|
|
|
Sorting nexin 14 |
RGS-PX2, SCAR20 |
Apraxia, Spinocerebellar ataxia, Autism, Brachydactyly, Cerebellar ataxia, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Clinodactyly, Congenital camptodactyly, Congenital clubfoot, Congenital epicanthus, Developmental delay, Exotropia, High palate, Mental retardation, Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome, MacrocephalyView all (3 more) |
600
|
|
|
Solute carrier family 4 member 10 |
NBCn2, NCBE |
|