All individuals with variants in gene INS

81 entries on 1 page. Showing entries 1 - 81.
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00213039 Proband-Fam PubMed: Xiao 2018 3-generation family. Proband, affected mother, maternal uncle, maternal aunt and maternal female cousin. Maternal grandmother had diabetes mellitus type II, not carrying the variant. Unaffected carrier younger brother (9y) and maternal grandfather (83y). - ? China - - - - Metformin and insulin MODY10 Hyperglycemia (HP:0003074), blurred vision (HP:0000622), cataract (HP:0000518), polycystic ovaries (HP:0000147), nephropathy (HP:0000112), peripheral neuropathy (HP:0009830), postprandial hyperglycemia (HP:0011998), elevated hemoglobin A1c (HP:0040217). 1 5 Jilani Jawaid
00218068 Proband 1-Fam PubMed: Dusatkova 2015 3-generation family, proband 1, affected mother and maternal grandfather. M ? Czech Republic - - - - insulin MODY10 Large for gestational age (HP:0001520), hyperglycemia (HP:0003074) 1 3 Jilani Jawaid
00218069 Proband 2-Fam PubMed: Dusatkova 2015 2-generation family, proband 2 and affected mother. F ? Czech Republic - - - - insulin pomp MODY10 Autoimmune antibody positivity (HP:0030057), large for gestational age (HP:0001520), hyperglycemia (HP:0003074), retinopathy (HP:0000488) 1 2 Jilani Jawaid
00230645 FamPat!1/II1 PubMed: Garin 2012 2-generation family, affected father/daugther F;M no Spain - - - - - MODY see paper; ... 1 1 Johan den Dunnen
00290340 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00290341 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295122 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00332133 Pat1 PubMed: Kwok 1981, PubMed: Shoelson 1983 - M - United States - - - - - diabetes - 1 1 Johan den Dunnen
00332134 Pat2 PubMed: Haneda 1983, PubMed: Shoelson 1983 - - - United States - - - - - diabetes - 1 1 Johan den Dunnen
00332135 ?;Pat3 PubMed: Nanjo 1986, PubMed: Shoelson 1983 - F - Japan - - - - - diabetes see paper; ..., hyperinsulinemia 1 1 Johan den Dunnen
00332136 patient PubMed: Chan 1987 - - - United States - - - - - diabetes - 1 1 Johan den Dunnen
00332137 patient PubMed: Shibasaki 1985 - - - Japan - - - - - diabetes - 1 1 Johan den Dunnen
00332313 patient PubMed: Yano 1992 - M - Japan - - - - - ? see paper; ... 1 1 Johan den Dunnen
00332314 patient PubMed: Warren-Perry 1997 - M - United Kingdom (Great Britain) white - - - - ? see paper; ... 1 1 Johan den Dunnen
00332317 FamUC41-proband PubMed: Stoy 2007 4-generation family, 5 affected (2F, 3M) F - United States Europe - - - - diabetes hyperglycemia, hyperchole-sterolemia, acanthosis nigricans 1 5 Johan den Dunnen
00332318 FamUC36-son PubMed: Stoy 2007 2-generation family, affected father/son M - United States Europe - - - - diabetes diabetic ketoacidosis, acanthosis nigricans 1 2 Johan den Dunnen
00332319 FamUC2-proband PubMed: Stoy 2007 2-generation family, 1 affected, unaffected parents M - United States Europe - - - - diabetes - 1 1 Johan den Dunnen
00332320 FamUC105-proband PubMed: Stoy 2007 2-generation family, 1 affected, unaffected parents M - United States Europe - - - - diabetes mood disorder, learning disability, attention-deficit hyperactivity disorder 1 1 Johan den Dunnen
00332321 FamISPAD155-daughter PubMed: Stoy 2007 2-generation family, affected father/daughter F - Sweden Europe;Egypt - - - - diabetes diabetic ketoacidosis 1 2 Johan den Dunnen
00332322 FamISPAD150 PubMed: Stoy 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany Europe - - - - diabetes diabetic ketoacidosis, childhood asthma 1 1 Johan den Dunnen
00332323 FamISPAD9 PubMed: Stoy 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Europe - - - - diabetes diabetic ketoacidosis 1 1 Johan den Dunnen
00332324 FamISPAD149 PubMed: Stoy 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Macedonia Europe - - - - diabetes hyperglycemia 1 1 Johan den Dunnen
00332325 ISPAD154 PubMed: Stoy 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany Middle East - - - - diabetes congenital urological malformation corrected by surgery 1 1 Johan den Dunnen
00332326 ISPAD153 PubMed: Stoy 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Thailand Asia - - - - diabetes diabetic ketoacidosis 1 1 Johan den Dunnen
00332327 ISPAD148 PubMed: Stoy 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Europe - - - - diabetes diabetic ketoacidosis 1 1 Johan den Dunnen
00332328 ISPAD156 PubMed: Stoy 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China Asia - - - - diabetes diabetic ketoacidosis 1 1 Johan den Dunnen
00332329 ISPAD157 PubMed: Stoy 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Serbia Europe - - - - diabetes - 1 1 Johan den Dunnen
00332330 ISPAD152 PubMed: Stoy 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Thailand Asia - - - - diabetes diabetic ketoacidosis 1 1 Johan den Dunnen
00332331 ISPAD158 PubMed: Stoy 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan Asia - - - - diabetes diabetic ketoacidosis 1 1 Johan den Dunnen
00332332 ISPAD151 PubMed: Stoy 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) Europe - - - - diabetes diabetic ketoacidosis 1 1 Johan den Dunnen
00374005 ISPAD162 PubMed: Edghill 2008 2-generation family, affected father/2 sons M - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 3 Johan den Dunnen
00374006 - PubMed: Edghill 2008 - - - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374007 - PubMed: Edghill 2008 - - - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374008 ISPAD181 PubMed: Edghill 2008 2-generation family, affected mother/daughter F - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 2 Johan den Dunnen
00374009 ISPAD17 PubMed: Edghill 2008 2-generation family, affected mother/daughter F - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 2 Johan den Dunnen
00374010 ISPAD166 PubMed: Edghill 2008 2-generation family, affected father/daughter,twin sosn F;M - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 4 Johan den Dunnen
00374011 - PubMed: Edghill 2008 - - - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 2 Johan den Dunnen
00374012 - PubMed: Edghill 2008 - - - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 2 Johan den Dunnen
00374013 - PubMed: Edghill 2008 - - - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374014 - PubMed: Edghill 2008 - - - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374015 - PubMed: Edghill 2008 - - - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374016 - PubMed: Edghill 2008 - - - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374017 DUK2193 PubMed: Edghill 2008 3-generation family, affected father/daughter F;M - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 3 Johan den Dunnen
00374018 DUK197 PubMed: Edghill 2008 3-generation family, affected grandmother/mother/daughter F - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 3 Johan den Dunnen
00374019 ISPAD176 PubMed: Edghill 2008 2-generation family, affected mother/son F;M - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 2 Johan den Dunnen
00374020 ISPAD21 PubMed: Edghill 2008 2-generation family, affected mother/son F;M - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 2 Johan den Dunnen
00374021 ISPAD180 PubMed: Edghill 2008 2-generation family, affected 2 brothers M - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 2 Johan den Dunnen
00374022 - PubMed: Edghill 2008 - - - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374023 ISPAD155 PubMed: Edghill 2008 2-generation family, affected father/daughter F;M - United Kingdom (Great Britain) - - - - - diabetes see paper; ... 1 2 Johan den Dunnen
00374024 T1D-N781 PubMed: Molven 2008 3-generation family, 4 affected (2F, 2M) F;M - Norway - - - - - diabetes see paper; ... 1 4 Johan den Dunnen
00374025 MODY-N580 PubMed: Molven 2008 3-generation family, 6 affected (3F, 3M) F;M - Norway - - - - - diabetes see paper; ... 1 6 Johan den Dunnen
00374026 KinA PubMed: Colombo 2008 2-generation family, affected mother/daughter F - Italy - - - - - diabetes see paper; ... 1 2 Johan den Dunnen
00374027 KinB PubMed: Colombo 2008 - M - Italy - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374028 KinC PubMed: Colombo 2008 2-generation family, affected father/daughter F;M - Italy - - - - - diabetes see paper; ... 1 2 Johan den Dunnen
00374029 KinI PubMed: Colombo 2008 - M - Italy - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374030 KinH PubMed: Colombo 2008 - M - Italy - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374031 KinE PubMed: Colombo 2008 - M - Italy - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374032 KinG PubMed: Colombo 2008 - F - Italy - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374033 KinF PubMed: Colombo 2008 - M - Italy - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374034 KinD PubMed: Colombo 2008 - F - Italy - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374035 FrRAM PubMed: Meur 2010 3-generation family, 8 affected (3F, 5M) F;M - France - - - - - diabetes see paper; ... 1 8 Johan den Dunnen
00374036 DK.M132 PubMed: Meur 2010 3-generation family, 5 affected (2F, 3M) F;M - Denmark - - - - - diabetes see paper; ... 1 5 Johan den Dunnen
00374037 FR.ET PubMed: Meur 2010 3-generation family, 5 affected (4F, M) F;M - France - - - - - diabetes see paper; ... 1 5 Johan den Dunnen
00374038 ISPAD182 PubMed: Garin 2010 - - yes - - - - - - diabetes see paper; ... 1 2 Johan den Dunnen
00374039 DM1293 PubMed: Garin 2010 - - - - - - - - - diabetes see paper; ... 1 2 Johan den Dunnen
00374040 ISPAD169 PubMed: Garin 2010 - F yes - - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374041 ISPAD170 PubMed: Garin 2010 - F yes - - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374042 ISPAD171 PubMed: Garin 2010 - M yes - - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374043 ISPAD189 PubMed: Garin 2010 - F yes - - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374044 M1165 PubMed: Garin 2010 - F yes - - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374045 ISPAD188 PubMed: Garin 2010 - M - - - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374046 DM1265 PubMed: Garin 2010 - M - - - - - - - diabetes see paper; ... 2 1 Johan den Dunnen
00374047 ISPAD185 PubMed: Garin 2010 - - yes - - - - - - diabetes see paper; ... 1 2 Johan den Dunnen
00374048 ISPAD186 PubMed: Garin 2010 - - yes - - - - - - diabetes see paper; ... 1 2 Johan den Dunnen
00374049 ISPAD183 PubMed: Garin 2010 - M yes - - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374050 ISPAD184 PubMed: Garin 2010 - F - - - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374051 ISPAD83 PubMed: Garin 2010 - F - - - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374052 ISPAD187 PubMed: Garin 2010 - M - - - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374053 - PubMed: Liu 2010 - - - - - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00374054 - PubMed: Fendler 2010 - - - - - - - - - diabetes see paper; ... 1 1 Johan den Dunnen
00435322 28771 - - F no ? (unknown) - - - - - IDDM2 Neonatal insulin-dependent diabetes mellitus, Insulin-resistant diabetes mellitus, Small for gestational age, Motor delay, Absent speech, Intellectual disability, Abnormality of movement, Short stature, Increased serum lactate, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Involuntary movements, Dystonia, Hypertonia, Restlessness 1 1 Andreas Laner
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