All individuals with variants in gene DNA2

12 entries on 1 page. Showing entries 1 - 12.
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00004055 - PubMed: Shaheen 2014, Journal: Shaheen 2014 3-generation family, affected uncle (II5)/nephew (III1), unaffected carrier parents (2) and relatives (1) M yes Saudi Arabia Arab - - - - SCKL characteristic Seckel facies, severe kyphoscoliosis leading to spinal cord compression and paraplegia, global developmental delay and intellectual disability 1 5 Fowzan Alkuraya
00208763 - - - M - Germany - - - - - - HP:0003198 (Myopathy) 1 1 Andreas Laner
00208791 - - - M - Germany - - - - - - HP:0001939 (Abnormality of metabolism/homeostasis); HP:0000508 (Ptosis); HP:0002015 (Dysphagia); HP:0000651 (Diplopia); HP:0012373 (Abnormal eye physiology); HP:0001611 (Nasal speech); HP:0003124 (Hypercholesterolemia); HP:0012638 (Abnormality of nervous system physiology); HP:0001608 (Abnormality of the voice); HP:0003011 (Abnormality of the musculature); HP:0410011 (Abnormality of masticatory muscle); HP:0000504 (Abnormality of vision) 1 1 Andreas Laner
00225597 - Journal: Tarnauskaite 2019 - F yes Italy - - - - - MOPD see paper; ... 1 1 David A. Parry
00225620 - Journal: Tarnauskaite 2019 - F - - - - - - - MOPD see paper; ... 1 1 David A. Parry
00225622 P3 Journal: Tarnauskaite 2019 - F no United States - - - - - MOPD see paper; ... 2 1 David A. Parry
00225623 P4 Journal: Tarnauskaite 2019 - M no India - - - - - MOPD see paper; ... 1 1 David A. Parry
00436392 268343 - - M no Germany - - - - - PEOA6 Elevated circulating creatine kinase concentration, Myalgia, Triggered by febrile illness 1 1 Andreas Laner
00436395 243726 - - F no Germany - - - - - PEOA6 External ophthalmoplegia, Facial muscle weakness, mtDNA deletions seen on muscle biopsy 1 1 Andreas Laner
00454715 NGSP121 PubMed: Legati 2016 - F - - - - - - - mitochondrial psycomotor delay, intellectual disability, ataxia 1 1 Daniele Ghezzi
00473732 Fam9606052Pat1172 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - MYOP Frequent fallings; Difficulty rising, climbing stairs & running; Positive Hx for Fx and dislocation of upper limb; Eye weakness; Ptosis, unilateral; Restrictive respiratory disease; Hyperlordosis; Weakness of forearm and arm muscles; Hypertrophy of calf, mild; Muscle biopsy: muscular atrophy, neurogenic probably progressive spinal mild form 1 1 Johan den Dunnen
00473963 Fam9911058Pat1495 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - MYOP onset 10-13 year, Mild generalized muscle weakness; Difficulty walking, running & climbing steps; Muscle spasm with pain; Prominent calves; Mild respiratory problem; Chewing problem; Elevated level of CPK, LDH, SGOT & SGPT. 1 1 Johan den Dunnen
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