| idx,module,question,goldstandard | |
| 50,Gene disease association,What are genes related to Hemolytic anemia due to phosphofructokinase deficiency?,PFKL | |
| 51,Gene disease association,What are genes related to Distal renal tubular acidosis?,"SLC4A1, ATP6V0A4" | |
| 52,Gene disease association,What are genes related to Pseudohypoparathyroidism Ic?,GNAS | |
| 53,Gene disease association,What are genes related to Glycine N-methyltransferase deficiency?,GNMT | |
| 54,Gene disease association,What are genes related to Meesmann corneal dystrophy?,"KRT12, KRT3" | |
| 55,Gene disease association,What are genes related to Chronic atrial and intestinal dysrhythmia?,SGO1 | |
| 56,Gene disease association,What are genes related to Sensorineural deafness with mild renal dysfunction?,BSND | |
| 57,Gene disease association,What are genes related to Bile acid malabsorption?,"SLC10A2, SLC51B" | |
| 58,Gene disease association,What are genes related to Immunodeficiency due to defect in MAPBP-interacting protein?,LAMTOR2 | |
| 59,Gene disease association,What are genes related to Currarino syndrome?,MNX1 | |
| 60,Gene disease association,What are genes related to Intervertebral disc disease?,COL9A3 | |
| 61,Gene disease association,What are genes related to Otofaciocervical syndrome?,"EYA1, PAX1" | |
| 62,Gene disease association,What are genes related to Brody myopathy?,ATP2A1 | |
| 63,Gene disease association,What are genes related to Neurodevelopmental disorder with gait disturbance?,TCEAL1 | |
| 64,Gene disease association,What are genes related to Mitochondrial DNA depletion syndrome 4A Alpers type?,POLG | |
| 65,Gene disease association,What are genes related to Nephropathy due to CFHR5 deficiency?,CFHR5 | |
| 66,Gene disease association,What are genes related to Achromatopsia?,"CNGA3, CNGB3, GNAT2, PDE6H, ATF6" | |
| 67,Gene disease association,What are genes related to Hyperphenylalaninemia?,"PTS, GCH1, QDPR, PCBD1, DNAJC12, PAH" | |
| 68,Gene disease association,What are genes related to EDICT syndrome?,MIR184 | |
| 69,Gene disease association,What are genes related to Gastrointestinal defects and immunodeficiency syndrome?,"PI4KA, TTC7A" | |
| 70,Gene disease association,What are genes related to Cleft palate with ankyloglossia?,TBX22 | |
| 71,Gene disease association,What are genes related to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures?,DLL1 | |
| 72,Gene disease association,What are genes related to Spondylocarpotarsal synostosis syndrome?,FLNB | |
| 73,Gene disease association,What are genes related to Haim-Munk syndrome?,CTSC | |
| 74,Gene disease association,What are genes related to Sialidosis?,NEU1 | |
| 75,Gene disease association,What are genes related to Siddiqi syndrome?,FITM2 | |
| 76,Gene disease association,What are genes related to Corneal fleck dystrophy?,PIKFYVE | |
| 77,Gene disease association,What are genes related to Liver failure?,TRMU | |
| 78,Gene disease association,What are genes related to Proteasome-associated autoinflammatory syndrome?,"PSMB9, PSMG2, POMP, PSMB10" | |
| 79,Gene disease association,What are genes related to Orofaciodigital syndrome XIV?,C2CD3 | |
| 80,Gene disease association,What are genes related to Trichoepithelioma?,CYLD | |
| 81,Gene disease association,What are genes related to Medullary thyroid carcinoma?,RET | |
| 82,Gene disease association,What are genes related to Type diabetes mellitus?,"HNF1B, IL6, GPD2, HMGA1, IRS1, NEUROD1, IL6" | |
| 83,Gene disease association,What are genes related to Buschke-Ollendorff syndrome?,LEMD3 | |
| 84,Gene disease association,What are genes related to Vascular malformation?,ELMO2 | |
| 85,Gene disease association,What are genes related to Acrocallosal syndrome?,KIF7 | |
| 86,Gene disease association,What are genes related to Congenital disorder of deglycosylation?,"NGLY1, MAN2C1" | |
| 87,Gene disease association,What are genes related to Spinal muscular atrophy with congenital bone fractures?,"TRIP4, ASCC1" | |
| 88,Gene disease association,What are genes related to B-cell immunodeficiency?,TOP2B | |
| 89,Gene disease association,What are genes related to Immunodeficiency with inflammatory disease and congenital thrombocytopenia?,ARPC1B | |
| 90,Gene disease association,What are genes related to Split-foot malformation with mesoaxial polydactyly?,MAP3K20 | |
| 91,Gene disease association,What are genes related to Pigmented nodular adrenocortical disease?,"PRKAR1A, PDE11A, PDE8B" | |
| 92,Gene disease association,What are genes related to Superoxide dismutase?,SOD3 | |
| 93,Gene disease association,What are genes related to Leukoencephalopathy with dystonia and motor neuropathy?,SCP2 | |
| 94,Gene disease association,What are genes related to Intracranial hemorrhage in brain cerebrovascular malformations?,IL6 | |
| 95,Gene disease association,What are genes related to Multiple system atrophy?,COQ2 | |
| 96,Gene disease association,What are genes related to Cone dystrophy?,"PDE6C, GUCA1A" | |
| 97,Gene disease association,What are genes related to Holt-Oram syndrome?,TBX5 | |
| 98,Gene disease association,What are genes related to Lichtenstein-Knorr syndrome?,SLC9A1 | |
| 99,Gene disease association,What are genes related to Ablepharon-macrostomia syndrome?,TWIST2 |