|
121
|
|
|
Nephronectin |
EGFL6L, POEM |
|
|
122
|
|
|
NUT midline carcinoma family member 1 |
C15orf55, FAM22H, NUT |
|
|
123
|
|
|
Neuropeptide B |
L7, PPL7, PPNPB |
|
|
124
|
|
|
Neuronal growth regulator 1 |
DMML2433, IGLON4, KILON, Ntra |
|
|
125
|
|
|
Neuronal guanine nucleotide exchange factor |
ARHGEF27, EPHEXIN |
|
|
126
|
|
|
NIPBL cohesin loading factor |
CDLS, CDLS1, IDN3, IDN3-B, Scc2 |
5p13 duplication syndrome, Accessory rib, Anxiety disorder, Astigmatism, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Bone disease, Brachycephaly, Brachydactyly, Breast cancer, Camptodactyly of fingers, Cataract, Cerebral cortical atrophy, Choanal atresia, Coloboma of optic disc, Congenital diaphragmatic hernia, Dislocated radial head, Congenital heart defects, Pulmonary hypoplasia, Congenital hypoplasia of penis, Congenital hypoplasia of radius, Congenital malrotation of intestine, Congenital muscular hypertrophy-cerebral syndrome, Congenital pectus excavatum, Cornelia de lange syndrome, Cryptorchidism, Cutis marmorata, Developmental delay, Dwarfism, Dyssomnia, Ectopic kidney, Elbow flexion contracture, Gastroesophageal reflux disease, Glaucoma, Hearing loss, Hiatal hernia, High palate, Hypoplasia of nipple, Hypospadias, Mental retardation, Intestinal volvulus, Macrotia, Malrotation of colon, Microcephaly, Microcornea, Micrognathism, Micromelia, Multicystic renal dysplasia, Multiple congenital anomalies, Myopia, Nervous system diseases, Nystagmus, Obsessive-compulsive disorder, Oligodactyly, Optic atrophy, Otitis media, Penile hypospadias, Phocomelia, Phthisis bulbi, Physiologic amenorrhea, Proptosis, Ptosis, Radioulnar synostosis, Renal insufficiency, Sleep disorders, Speech disorders, Strabismus, Syndactyly of the toes, Synophrys, Talipes, Tetralogy of fallot, Uranostaphyloschisis, Uterine anomalies, Ventricular hypertrophy, Ventricular septal defect, Vesicoureteral refluxView all (62 more) |
|
127
|
|
|
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
2P1, C3orf60, E3-3, MC1DN18 |
Anemia, Cardiomyopathy, Congestive heart failure, Developmental delay, Developmental regression, Diabetes mellitus, Dyskinetic syndrome, Dysphagia, Epileptic encephalopathy, Hearing loss, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Isolated complex i deficiency, Leigh syndrome with cardiomyopathy, Leukodystrophy, Leukoencephalopathy, Mental retardation, Microcephaly, Mitochondrial complex deficiency, Mitochondrial diseases, Mitochondrial myopathy, Nervous system diseases, Nystagmus, Optic atrophy, Ptosis, Pulmonary stenosis, Renal agenesis, Renal dysplasia, Respiratory failure, Retinal diseases, StrabismusView all (17 more) |
|
128
|
|
|
Sodium leak channel, non-selective |
CLIFAHDD, CanIon, IHPRF, IHPRF1, INNFD, VGCNL1, bA430M15.1 |
Abnormal spinal segmentation, Arthrogryposis-like hand anomaly, Brachycephaly, Congenital camptodactyly, Congenital clubfoot, Congenital contracture, Congenital contractures of the limbs and face, hypotonia, and developmental delay, Congenital exomphalos, Congenital limbs-face contractures-hypotonia-developmental delay syndrome, Congenital pectus carinatum, Cryptorchidism, Developmental delay, Digitotalar dysmorphism, Distal arthrogryposis, Dwarfism, Elbow flexion contracture, Freeman-sheldon syndrome, Gastroesophageal reflux disease, Gout, Gouty arthritis, High palate, Hip contracture, Hypotonia, with psychomotor retardation and characteristic facies, Hypotonia-speech impairment-severe cognitive delay syndrome, Mental retardation, Macrostomia, Macrotia, Mental disorders, Microcephaly, Micrognathism, Microstomia, Neck webbing, Nystagmus, Optic atrophy, Psychosis, Ptosis, Scoliosis, Sheldon-hall syndrome, Sleep apnea, Spastic quadriplegia, Speech disorders, Strabismus, Talipes, Tarsal coalition, Vertical talusView all (30 more) |
|
129
|
|
|
Nucleolar protein 11 |
- |
|
|
130
|
|
|
Nectin cell adhesion molecule 3 |
CD113, CDW113, NECTIN-3, PPR3, PRR3, PVRL3, PVRR3 |
|
