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:0000855	HP:0000855	Insulin resistance	0	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	245
HP:0000855	HP:0000855	Insulin resistance	0	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2		245
HP:0000855	HP:0000855	Insulin resistance	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		245
HP:0000855	HP:0000855	Insulin resistance	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY		245
HP:0000855	HP:0000855	Insulin resistance	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0000855	HP:0000855	Insulin resistance	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19	.
HP:0000855	HP:0000855	Insulin resistance	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent	85
HP:0000855	HP:0000855	Insulin resistance	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0000855	HP:0000855	Insulin resistance	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040280 - Obligate	12
HP:0000855	HP:0000855	Insulin resistance	0	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	12
HP:0000855	HP:0000855	Insulin resistance	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent	404
HP:0000855	HP:0000855	Insulin resistance	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0000855	HP:0000855	Insulin resistance	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY		2
HP:0000855	HP:0000855	Insulin resistance	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0000855	HP:0000855	Insulin resistance	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0000855	HP:0000855	Insulin resistance	0	BLK CL E G H	640	1057	ORPHA:552	MODY		75
HP:0000855	HP:0000855	Insulin resistance	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0000855	HP:0000855	Insulin resistance	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent	105
HP:0000855	HP:0000855	Insulin resistance	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0000855	HP:0000855	Insulin resistance	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040281 - Very frequent	105
HP:0000855	HP:0000855	Insulin resistance	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent	11
HP:0000855	HP:0000855	Insulin resistance	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0000855	HP:0000855	Insulin resistance	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0000855	HP:0000855	Insulin resistance	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent	48
HP:0000855	HP:0000855	Insulin resistance	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0000855	HP:0000855	Insulin resistance	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0000855	HP:0000855	Insulin resistance	0	CEL CL E G H	1056	1848	ORPHA:552	MODY		25
HP:0000855	HP:0000855	Insulin resistance	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure	.	1
HP:0000855	HP:0000855	Insulin resistance	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy		8
HP:0000855	HP:0000855	Insulin resistance	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	27
HP:0000855	HP:0000855	Insulin resistance	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0000855	HP:0000855	Insulin resistance	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040282 - Frequent	60
HP:0000855	HP:0000855	Insulin resistance	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040284 - Very rare	80
HP:0000855	HP:0000855	Insulin resistance	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0000855	HP:0000855	Insulin resistance	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0000855	HP:0000855	Insulin resistance	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0000855	HP:0000855	Insulin resistance	0	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	151
HP:0000855	HP:0000855	Insulin resistance	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0000855	HP:0000855	Insulin resistance	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent
HP:0000855	HP:0000855	Insulin resistance	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0000855	HP:0000855	Insulin resistance	0	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	237
HP:0000855	HP:0000855	Insulin resistance	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		237
HP:0000855	HP:0000855	Insulin resistance	0	GCK CL E G H	2645	4195	ORPHA:552	MODY		237
HP:0000855	HP:0000855	Insulin resistance	0	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	3
HP:0000855	HP:0000855	Insulin resistance	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0000855	HP:0000855	Insulin resistance	0	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0000855	HP:0000855	Insulin resistance	0	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	161
HP:0000855	HP:0000855	Insulin resistance	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY		161
HP:0000855	HP:0000855	Insulin resistance	0	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	90
HP:0000855	HP:0000855	Insulin resistance	0	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	138
HP:0000855	HP:0000855	Insulin resistance	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY		138
HP:0000855	HP:0000855	Insulin resistance	0	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2	HP:0040283 - Occasional	5
HP:0000855	HP:0000855	Insulin resistance	0	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0000855	HP:0000855	Insulin resistance	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000855	HP:0000855	Insulin resistance	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000855	HP:0000855	Insulin resistance	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent	91
HP:0000855	HP:0000855	Insulin resistance	0	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0000855	HP:0000855	Insulin resistance	0	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency	HP:0040282 - Frequent	53
HP:0000855	HP:0000855	Insulin resistance	0	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	2
HP:0000855	HP:0000855	Insulin resistance	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		62
HP:0000855	HP:0000855	Insulin resistance	0	INS CL E G H	3630	6081	ORPHA:552	MODY		62
HP:0000855	HP:0000855	Insulin resistance	0	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency	HP:0040283 - Occasional	229
HP:0000855	HP:0000855	Insulin resistance	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040281 - Very frequent	229
HP:0000855	HP:0000855	Insulin resistance	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities		229
HP:0000855	HP:0000855	Insulin resistance	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0000855	HP:0000855	Insulin resistance	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional	1
HP:0000855	HP:0000855	Insulin resistance	0	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	5
HP:0000855	HP:0000855	Insulin resistance	0	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	3
HP:0000855	HP:0000855	Insulin resistance	0	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	127
HP:0000855	HP:0000855	Insulin resistance	0	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3		127
HP:0000855	HP:0000855	Insulin resistance	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		127
HP:0000855	HP:0000855	Insulin resistance	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY		127
HP:0000855	HP:0000855	Insulin resistance	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0000855	HP:0000855	Insulin resistance	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY		78
HP:0000855	HP:0000855	Insulin resistance	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0000855	HP:0000855	Insulin resistance	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0000855	HP:0000855	Insulin resistance	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0000855	HP:0000855	Insulin resistance	0	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	35
HP:0000855	HP:0000855	Insulin resistance	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040280 - Obligate	7
HP:0000855	HP:0000855	Insulin resistance	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6	.	7
HP:0000855	HP:0000855	Insulin resistance	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0000855	HP:0000855	Insulin resistance	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0000855	HP:0000855	Insulin resistance	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent	645
HP:0000855	HP:0000855	Insulin resistance	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040281 - Very frequent	645
HP:0000855	HP:0000855	Insulin resistance	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0000855	HP:0000855	Insulin resistance	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0000855	HP:0000855	Insulin resistance	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0000855	HP:0000855	Insulin resistance	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040282 - Frequent	645
HP:0000855	HP:0000855	Insulin resistance	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040283 - Occasional	11
HP:0000855	HP:0000855	Insulin resistance	0	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0000855	HP:0000855	Insulin resistance	0	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis	HP:0040282 - Frequent	203
HP:0000855	HP:0000855	Insulin resistance	0	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	4
HP:0000855	HP:0000855	Insulin resistance	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040282 - Frequent
HP:0000855	HP:0000855	Insulin resistance	0	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	32
HP:0000855	HP:0000855	Insulin resistance	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY		32
HP:0000855	HP:0000855	Insulin resistance	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome		2
HP:0000855	HP:0000855	Insulin resistance	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0000855	HP:0000855	Insulin resistance	0	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone	.	55
HP:0000855	HP:0000855	Insulin resistance	0	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	55
HP:0000855	HP:0000855	Insulin resistance	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY		55
HP:0000855	HP:0000855	Insulin resistance	0	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	30
HP:0000855	HP:0000855	Insulin resistance	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		30
HP:0000855	HP:0000855	Insulin resistance	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY		30
HP:0000855	HP:0000855	Insulin resistance	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital		30
HP:0000855	HP:0000855	Insulin resistance	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent	43
HP:0000855	HP:0000855	Insulin resistance	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0000855	HP:0000855	Insulin resistance	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000855	HP:0000855	Insulin resistance	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000855	HP:0000855	Insulin resistance	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0000855	HP:0000855	Insulin resistance	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy		19
HP:0000855	HP:0000855	Insulin resistance	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0000855	HP:0000855	Insulin resistance	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0000855	HP:0000855	Insulin resistance	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent	42
HP:0000855	HP:0000855	Insulin resistance	0	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	42
HP:0000855	HP:0000855	Insulin resistance	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0000855	HP:0000855	Insulin resistance	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040280 - Obligate	42
HP:0000855	HP:0000855	Insulin resistance	0	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	12
HP:0000855	HP:0000855	Insulin resistance	0	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome		22
HP:0000855	HP:0000855	Insulin resistance	0	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0000855	HP:0000855	Insulin resistance	0	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0000855	HP:0000855	Insulin resistance	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	145
HP:0000855	HP:0000855	Insulin resistance	0	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	71
HP:0000855	HP:0000855	Insulin resistance	0	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	3
HP:0000855	HP:0000855	Insulin resistance	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		110
HP:0000855	HP:0000855	Insulin resistance	0	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	4
HP:0000855	HP:0000855	Insulin resistance	0	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	389
HP:0000855	HP:0000855	Insulin resistance	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent	310
HP:0000855	HP:0000855	Insulin resistance	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome		9
HP:0000855	HP:0000855	Insulin resistance	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0000855	HP:0000855	Insulin resistance	0	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1		30
HP:0000855	HP:0000855	Insulin resistance	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0000855	HP:0000855	Insulin resistance	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83
HP:0000855	HP:0000855	Insulin resistance	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0000855	HP:0000855	Insulin resistance	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent	83
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2		245
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		245
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional	245
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040282 - Frequent	12
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional	2
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional	75
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional	25
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		237
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional	237
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional	161
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional	138
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		62
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional	62
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.	229
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3		127
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		127
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional	127
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional	78
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent	47
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent	46
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional	32
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	2
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional	55
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		30
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional	30
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital		30
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy		19
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent	42
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome		22
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		110
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	9
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1		30
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0000855	HP:0000831	Insulin-resistant diabetes mellitus	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2		245
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	245
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	ABCC8 CL E G H	6833	59	ORPHA:552	MODY		245
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0000855	HP:0000877	Insulin-resistant diabetes mellitus at puberty	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	APPL1 CL E G H	26060	24035	ORPHA:552	MODY		2
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	BLK CL E G H	640	1057	ORPHA:552	MODY		75
HP:0000855	HP:0000877	Insulin-resistant diabetes mellitus at puberty	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	CEL CL E G H	1056	1848	ORPHA:552	MODY		25
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent	2
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040281 - Very frequent	65
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent	37
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	237
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	GCK CL E G H	2645	4195	ORPHA:552	MODY		237
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	HNF1A CL E G H	6927	11621	ORPHA:552	MODY		161
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	HNF4A CL E G H	3172	5024	ORPHA:552	MODY		138
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	62
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	INS CL E G H	3630	6081	ORPHA:552	MODY		62
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3		127
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	127
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY		127
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	KLF11 CL E G H	8462	11811	ORPHA:552	MODY		78
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY		32
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	PAX4 CL E G H	5078	8618	ORPHA:552	MODY		55
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	30
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	PDX1 CL E G H	3651	6107	ORPHA:552	MODY		30
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	.	30
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000855	HP:0000877	Insulin-resistant diabetes mellitus at puberty	2	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040280 - Obligate	19
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	HP:0040281 - Very frequent	22
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	110
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1		30
HP:0000855	HP:0000857	Neonatal insulin-dependent diabetes mellitus	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2		245
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional	245
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional	2
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional	75
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional	25
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional	237
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional	161
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional	138
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional	62
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3	.	127
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional	127
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	127
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional	78
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional	32
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional	55
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional	30
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.	30
HP:0000855	HP:0008255	Transient neonatal diabetes mellitus	3	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	30