Human | NCRNA00163 | 727699 | | Cataplexy, paroxysmal weakness or paralysis |
Human | NDUFS7 | 374291 | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | IMP5 | 162540 | | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | C8orf38 | 137682 | | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | LRRK2 | 120892 | leucine-rich repeat kinase 2 | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | NRCLP | 100918 | Narcolepsy, HLA-associated | Cataplexy, paroxysmal weakness or paralysis |
Human | ROBO3 | 64221 | roundabout, axon guidance receptor, homolog 3 (Drosophila) | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | ANKH | 56172 | ANKH inorganic pyrophosphate transport regulator | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | CHD7 | 55636 | chromodomain helicase DNA binding protein 7 | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | KIF21A | 55605 | kinesin family member 21A | No KIF21A nucleotide change was found in any patients with congenital superior oblique muscle palsy |
Human | APTX | 54840 | aprataxin | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | GDAP1 | 54332 | ganglioside induced differentiation associated protein 1 | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | SOST | 50964 | sclerostin | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | MINK1 | 50488 | misshapen-like kinase 1 | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | OSTM1 | 28962 | osteopetrosis associated transmembrane protein 1 | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | HSPB8 | 26353 | heat shock 22kDa protein 8 | Progression to paralysis and atrophy of distal lower limb muscles |
Human | TARDBP | 23435 | TAR DNA binding protein | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | SEPT9 | 10801 | septin 9 | Distinct disorder from hereditary neuropathy with liability to pressure palsies (HNPP, {162500}) |
Human | SLC9A6 | 10479 | solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | TCIRG1 | 10312 | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | KCNE3 | 10008 | potassium voltage-gated channel, Isk-related family, member 3 | Flaccid weakness or paralysis, episodic attacks |
Human | SEMA3E | 9723 | sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | GTF2IRD1 | 9569 | GTF2I repeat domain containing 1 | INFERRED, Score=800, UMLKSK CUI: C0522224 |
Human | PHOX2B | 8929 | paired-like homeobox 2b | the polymorphisms of the ARIX gene and PHOX2B gene may be genetic risk factors for the development of congenital superior oblique muscle palsy |