|
991
|
|
|
Solute carrier family 39 member 7 |
AGM9, D6S115E, D6S2244E, H2-KE4, HKE4, KE4, RING5, ZIP7 |
|
|
992
|
|
|
Solute carrier family 52 member 2 |
BVVLS2, D15Ertd747e, GPCR41, GPR172A, HuPAR-1, PAR1, RFT3, RFVT2, hRFT3 |
Amyotrophy, Spinocerebellar ataxia, Brown-vialetto-van laere syndrome, Bulbar palsy, Cerebellar ataxia, Cerebral cortical atrophy, Conjunctival telangiectasis, Diabetes insipidus, Dysarthria, Dysautonomia, Dysmorphic features, Dysphagia, Facial paralysis, Gynecomastia, Hallucinations, Hearing loss, Hypertension, Hypogonadism, Mental retardation, Movement disorders, Nystagmus, Optic atrophy, Ptosis, Riboflavin transporter deficiency, Sensorimotor neuropathy, Sensory neuropathy, Sleep apneaView all (12 more) |
|
993
|
|
|
Sperm associated antigen 16 |
PF20, WDR29 |
|
|
994
|
|
|
Sin3A associated protein 130 |
- |
|
|
995
|
|
|
SH3 domain and tetratricopeptide repeats 2 |
CMT4C, MNMN |
Charcot-marie-tooth disease, Distal amyotrophy, Facial paralysis, Mononeuropathies, Mononeuropathy of the median nerve, Motor delay, Movement disorders, Nystagmus, Peripheral axonal neuropathy, Polyneuropathy, Scoliosis, Sensorimotor neuropathy |
|
996
|
|
|
Steroid 5 alpha-reductase 3 |
CDG1P, CDG1Q, KRIZI, S5AR, S5AR 3, SRD5A2L, SRD5A2L1 |
Anemia, Antithrombin deficiency, Autism, Brachycephaly, Cataract, Cerebellar atrophy, Cone dystrophy, Congenital coloboma of iris, Congenital disorder of glycosylation, Congenital ocular coloboma, Creutzfeldt-jakob disease, Cutis laxa, Developmental delay, Dysmorphic features, Eczema, Elbow flexion contracture, Glaucoma, Hyperkeratosis, Hypertrichosis, Hypoplasia of optic disc, Hypoplasia of the optic nerve, Hypoplasia of the pituitary gland, Hypothyroidism, Ichthyosis, Mental retardation, Isolated somatotropin deficiency, Kahrizi syndrome, Motor delay, Nystagmus, Optic atrophy, Palmoplantar keratoderma, Polymicrogyria, Rod-cone dystrophy, Somatotropin deficiency, Strawberry nevus of skin, UranostaphyloschisisView all (21 more) |
|
997
|
|
|
Structural maintenance of chromosomes 6 |
SMC-6, SMC6L1, hSMC6 |
|
|
998
|
|
|
SAP30 like |
NS4ATP2 |
|
|
999
|
|
|
STEAP4 metalloreductase |
STAMP2, SchLAH, TIARP, TNFAIP9 |
|
|
1000
|
|
|
SUV39H2 histone lysine methyltransferase |
KMT1B |
|
