Hyperekplexia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Hereditary Hyperexplexia | C1835614 | GLRA1 | |
| GLRB | |||
| SLC6A5 | 25480793 | ||
| GPHN | |||
| ATAD1 | 29390050 | ||
| HYPEREKPLEXIA 1 | C4551954 | GLRA1 | 28138086, 25036534, 10514101, 7925268, 7518444, 19732286, 7881416, 28122427, 7981700, 1352015, 8298642, 8733061, 24108130, 25730860, 12169101, 11389164, 9009272, 8571969, 16236274, 7611730, 20631190, 9920650, 9067762, 15771552 |
| SLC6A5 | |||
| HYPEREKPLEXIA 2 | C3553291 | GLRB | 23238346, 11929858, 21391991, 23184146 |
| HYPEREKPLEXIA 3 | C3553288 | SLC6A5 | 31370103, 16751771, 22753417, 22700964 |
| HYPEREKPLEXIA 4 | C4693933 | ATAD1 | 29390050, 28180185, 29659736 |