Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 245 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | | | | 245 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | | | | 2 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | | | | 75 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 114 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | | | | 25 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | | | | 2 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 5 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 1 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | | | | 37 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 237 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | | | | 237 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | | | | 143 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | | | | 161 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:261265 | 17q12 microdeletion syndrome | | | | 90 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | | | | 90 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | | | | 138 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 9 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 62 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | | | | 62 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 127 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | | | | 127 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 730 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 1 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | | | | 78 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | LHX1 CL E G H | 3975 | 6593 | ORPHA:261265 | 17q12 microdeletion syndrome | | | | | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | | | | 32 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | | | | 55 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 30 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | | | | 30 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | PDX1 CL E G H | 3651 | 6107 | OMIM:260370 | Pancreatic agenesis, congenital | | | | 30 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | PTF1A CL E G H | 256297 | 23734 | OMIM:615935 | Pancreatic agenesis 2 | | | | 22 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | PTF1A CL E G H | 256297 | 23734 | OMIM:609069 | Pancreatic and cerebellar agenesis | | | | 22 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | PTF1A CL E G H | 256297 | 23734 | ORPHA:65288 | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | | | | 22 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | | | | 6 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | RARB CL E G H | 5915 | 9865 | ORPHA:2470 | Matthew-Wood syndrome | | | | 9 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | RFX6 CL E G H | 222546 | 21478 | OMIM:615710 | Mitchell-Riley syndrome | | | | 28 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 26 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | | | | | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 110 | | |
HP:0012094 | HP:0012094 | Abnormal pancreas size | 0 | STRA6 CL E G H | 64220 | 30650 | ORPHA:2470 | Matthew-Wood syndrome | | | | 71 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 245 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | | | | 245 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | | | | 2 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | | | | 75 | | |
HP:0012094 | HP:0006277 | Pancreatic hyperplasia | 1 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 114 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | | | | 25 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | | | | 2 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 5 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 1 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | | | | 37 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 237 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | | | | 237 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | | | | 143 | | |
HP:0012094 | HP:0006277 | Pancreatic hyperplasia | 1 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | | | | 161 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | HNF1B CL E G H | 6928 | 11630 | ORPHA:261265 | 17q12 microdeletion syndrome | | | | 90 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | HP:0040283 - Occasional | | | 90 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | | | | 138 | | |
HP:0012094 | HP:0006277 | Pancreatic hyperplasia | 1 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 9 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 62 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | | | | 62 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 127 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | | | | 127 | | |
HP:0012094 | HP:0006277 | Pancreatic hyperplasia | 1 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 730 | | |
HP:0012094 | HP:0006277 | Pancreatic hyperplasia | 1 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 1 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | | | | 78 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | LHX1 CL E G H | 3975 | 6593 | ORPHA:261265 | 17q12 microdeletion syndrome | | | | | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | | | | 32 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | | | | 55 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 30 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | | | | 30 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | PDX1 CL E G H | 3651 | 6107 | OMIM:260370 | Pancreatic agenesis, congenital | | | | 30 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | PTF1A CL E G H | 256297 | 23734 | OMIM:615935 | Pancreatic agenesis 2 | | | | 22 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | PTF1A CL E G H | 256297 | 23734 | OMIM:609069 | Pancreatic and cerebellar agenesis | | | | 22 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | PTF1A CL E G H | 256297 | 23734 | ORPHA:65288 | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040283 - Occasional | | | 6 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | RARB CL E G H | 5915 | 9865 | ORPHA:2470 | Matthew-Wood syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | RFX6 CL E G H | 222546 | 21478 | OMIM:615710 | Mitchell-Riley syndrome | | | | 28 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 26 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | | | | | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 110 | | |
HP:0012094 | HP:0100800 | Aplasia/Hypoplasia of the pancreas | 1 | STRA6 CL E G H | 64220 | 30650 | ORPHA:2470 | Matthew-Wood syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 245 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 245 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 2 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 75 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 25 | | |
HP:0012094 | HP:0100801 | Pancreatic aplasia | 2 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | . | | | 37 | | |
HP:0012094 | HP:0100801 | Pancreatic aplasia | 2 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 237 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 237 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | HP:0040283 - Occasional | | | 143 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 161 | | |
HP:0012094 | HP:0100801 | Pancreatic aplasia | 2 | HNF1B CL E G H | 6928 | 11630 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 138 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 62 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 62 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 127 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 127 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 78 | | |
HP:0012094 | HP:0100801 | Pancreatic aplasia | 2 | LHX1 CL E G H | 3975 | 6593 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 32 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 55 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 30 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 30 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | PDX1 CL E G H | 3651 | 6107 | OMIM:260370 | Pancreatic agenesis, congenital | . | | | 30 | | |
HP:0012094 | HP:0100801 | Pancreatic aplasia | 2 | PDX1 CL E G H | 3651 | 6107 | OMIM:260370 | Pancreatic agenesis, congenital | | | | 30 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | PTF1A CL E G H | 256297 | 23734 | OMIM:615935 | Pancreatic agenesis 2 | . | | | 22 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | PTF1A CL E G H | 256297 | 23734 | OMIM:609069 | Pancreatic and cerebellar agenesis | . | | | 22 | | |
HP:0012094 | HP:0100801 | Pancreatic aplasia | 2 | PTF1A CL E G H | 256297 | 23734 | OMIM:609069 | Pancreatic and cerebellar agenesis | | | | 22 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | RFX6 CL E G H | 222546 | 21478 | OMIM:615710 | Mitchell-Riley syndrome | . | | | 28 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | HP:0040284 - Very rare | | | 68 | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | | | |
HP:0012094 | HP:0002594 | Pancreatic hypoplasia | 2 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 110 | | |