Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
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: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	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