rs1555247672, MED13L

N. diseases: 14
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
208 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
49 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
19 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
35 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
Hyperextensible skin
CUI: C0241074
Disease: Hyperextensible skin
11 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
Hypesthesia
CUI: C0020580
Disease: Hypesthesia
6 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
Joint laxity
CUI: C0086437
Disease: Joint laxity
15 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
Large nose
CUI: C0426415
Disease: Large nose
7 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
CUI: C4225208
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
26 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
Narrow palpebral fissure
CUI: C2675021
Disease: Narrow palpebral fissure
3 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
Short palpebral fissure
CUI: C0423112
Disease: Short palpebral fissure
16 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0