Disease ID | Disease name | Source of annotation with NHS | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
302350 | NANCE-HORAN SYNDROME | ClinVar, OMIM | link to OMIM | 1 | NHS |
PS116200 | CATARACT | ClinVar, OMIM | link to OMIM | 33 | GCNT2, CRYGD, VIM, CRYBB2, PITX3, UNC45B, BFSP1, GJA8, MAF, AGK, EPHA2, CRYBB3, MIP, CRYBA2, CRYGS, CRYBB1, FYCO1, SIPA1L3, CRYAB, GJA3, BFSP2, TDRD7, HSF4, CHMP4B, CRYAA, LIM2, WFS1, CRYBA4, LSS, CRYBA1, CRYGB, CRYGC, NHS |
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