12761
|
|
|
SPRY domain containing 4 |
- |
|
12762
|
|
|
SPRY domain containing 7 |
C13orf1, CLLD6 |
|
12763
|
|
|
SplA/ryanodine receptor domain and SOCS box containing 1 |
SSB-1, SSB1 |
|
12764
|
|
|
SplA/ryanodine receptor domain and SOCS box containing 2 |
GRCC9, SSB2 |
|
12765
|
|
|
SplA/ryanodine receptor domain and SOCS box containing 3 |
C16orf31, SSB3 |
|
12766
|
|
|
SplA/ryanodine receptor domain and SOCS box containing 4 |
SSB-4, SSB4 |
|
12767
|
|
|
Spectrin alpha, erythrocytic 1 |
EL2, HPP, HS3, SPH3, SPTA |
|
12768
|
|
|
Spectrin alpha, non-erythrocytic 1 |
DEE5, DEVEP, EIEE5, HMN11, HMND11, NEAS, SPG91, SPTA2 |
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, Degenerative disorder, Developmental and epileptic encephalopathy, Developmental delay with or without epilepsy, Developmental disability, Distal spinal muscular atrophy, Partial epilepsy, Rolandic epilepsy, Intellectual developmental disorder, x-linked, Intellectual developmental disorder, Jeune thoracic dystrophy, Liver cirrhosis, Neurodegenerative disorder, Neurodevelopmental disorder, Neuromuscular disease, Distal hereditary motor neuropathy, Peripheral neuropathy, Short-rib thoracic dysplasia, Spastic ataxia, Spastic paraplegia, Hereditary spastic paraplegia, West syndromeView all (7 more) |
12769
|
|
|
Spectrin beta, erythrocytic |
EL3, HS2, HSPTB1, SPH2 |
|
12770
|
|
|
Spectrin beta, non-erythrocytic 1 |
DDISBA, ELF, HEL102, SPTB2, betaSpII |
Alzheimer disease, Autism, Bone fracture, Kidney disease, Dementia, Developmental delay with impaired growth and dysmorphic facies, Hearing loss, Intellectual developmental disorder, Mitral valve prolapse, Neurodevelopmental disorder, Non-specific syndromic intellectual disability, Open angle glaucoma, Schizophrenia, Diabetes mellitus type 1, Diabetes mellitus type 2 |