Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal circulating insulin concentration (HP:0040214)

Parent Node:
Abnormal glucose homeostasis (HP:0011014)

Parent Node:
obsolete Abnormal circulating insulin level (HP:0040215)

..Starting node
..Hyperinsulinemia (HP:0000842)

Term ID:

842

Name:

Hyperinsulinemia

Synonym:

Elevated insulin level

Definition:

An increased concentration of insulin in the blood.

Comments:

Reference:

HP:0000842

Genes and Diseases:

Child Nodes:

........

Hyperinsulinemic hypoglycemia (HP:0000825)

........

Fasting hyperinsulinemia (HP:0008283)

Sister Nodes:

Hypoinsulinemia (HP:0040216)

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:0000842	HP:0000842	Hyperinsulinemia	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	826
HP:0000842	HP:0000842	Hyperinsulinemia	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040281 - Very frequent	245
HP:0000842	HP:0000842	Hyperinsulinemia	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1		245
HP:0000842	HP:0000842	Hyperinsulinemia	0	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive		245
HP:0000842	HP:0000842	Hyperinsulinemia	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY		245
HP:0000842	HP:0000842	Hyperinsulinemia	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0000842	HP:0000842	Hyperinsulinemia	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	2
HP:0000842	HP:0000842	Hyperinsulinemia	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0000842	HP:0000842	Hyperinsulinemia	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0000842	HP:0000842	Hyperinsulinemia	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	175
HP:0000842	HP:0000842	Hyperinsulinemia	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	2
HP:0000842	HP:0000842	Hyperinsulinemia	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0000842	HP:0000842	Hyperinsulinemia	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0000842	HP:0000842	Hyperinsulinemia	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY		2
HP:0000842	HP:0000842	Hyperinsulinemia	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	6
HP:0000842	HP:0000842	Hyperinsulinemia	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	3
HP:0000842	HP:0000842	Hyperinsulinemia	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	1
HP:0000842	HP:0000842	Hyperinsulinemia	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	29
HP:0000842	HP:0000842	Hyperinsulinemia	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	114
HP:0000842	HP:0000842	Hyperinsulinemia	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	97
HP:0000842	HP:0000842	Hyperinsulinemia	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	182
HP:0000842	HP:0000842	Hyperinsulinemia	0	BLK CL E G H	640	1057	ORPHA:552	MODY		75
HP:0000842	HP:0000842	Hyperinsulinemia	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0000842	HP:0000842	Hyperinsulinemia	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0000842	HP:0000842	Hyperinsulinemia	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040281 - Very frequent	105
HP:0000842	HP:0000842	Hyperinsulinemia	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	23
HP:0000842	HP:0000842	Hyperinsulinemia	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0000842	HP:0000842	Hyperinsulinemia	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0000842	HP:0000842	Hyperinsulinemia	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0000842	HP:0000842	Hyperinsulinemia	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	147
HP:0000842	HP:0000842	Hyperinsulinemia	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0000842	HP:0000842	Hyperinsulinemia	0	CEL CL E G H	1056	1848	ORPHA:552	MODY		25
HP:0000842	HP:0000842	Hyperinsulinemia	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	71
HP:0000842	HP:0000842	Hyperinsulinemia	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000842	HP:0000842	Hyperinsulinemia	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	60
HP:0000842	HP:0000842	Hyperinsulinemia	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	44
HP:0000842	HP:0000842	Hyperinsulinemia	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	164
HP:0000842	HP:0000842	Hyperinsulinemia	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000842	HP:0000842	Hyperinsulinemia	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	156
HP:0000842	HP:0000842	Hyperinsulinemia	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	158
HP:0000842	HP:0000842	Hyperinsulinemia	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040284 - Very rare	80
HP:0000842	HP:0000842	Hyperinsulinemia	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0000842	HP:0000842	Hyperinsulinemia	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	47
HP:0000842	HP:0000842	Hyperinsulinemia	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	1
HP:0000842	HP:0000842	Hyperinsulinemia	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent	164
HP:0000842	HP:0000842	Hyperinsulinemia	0	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance	.	13
HP:0000842	HP:0000842	Hyperinsulinemia	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040282 - Frequent	13
HP:0000842	HP:0000842	Hyperinsulinemia	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	209
HP:0000842	HP:0000842	Hyperinsulinemia	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	56
HP:0000842	HP:0000842	Hyperinsulinemia	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000842	HP:0000842	Hyperinsulinemia	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0000842	HP:0000842	Hyperinsulinemia	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	26
HP:0000842	HP:0000842	Hyperinsulinemia	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional	23
HP:0000842	HP:0000842	Hyperinsulinemia	0	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3		237
HP:0000842	HP:0000842	Hyperinsulinemia	0	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency		237
HP:0000842	HP:0000842	Hyperinsulinemia	0	GCK CL E G H	2645	4195	ORPHA:552	MODY		237
HP:0000842	HP:0000842	Hyperinsulinemia	0	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6		56
HP:0000842	HP:0000842	Hyperinsulinemia	0	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome		56
HP:0000842	HP:0000842	Hyperinsulinemia	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	36
HP:0000842	HP:0000842	Hyperinsulinemia	0	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4		41
HP:0000842	HP:0000842	Hyperinsulinemia	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0000842	HP:0000842	Hyperinsulinemia	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	.	38
HP:0000842	HP:0000842	Hyperinsulinemia	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	86
HP:0000842	HP:0000842	Hyperinsulinemia	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent	161
HP:0000842	HP:0000842	Hyperinsulinemia	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY		161
HP:0000842	HP:0000842	Hyperinsulinemia	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0000842	HP:0000842	Hyperinsulinemia	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY		138
HP:0000842	HP:0000842	Hyperinsulinemia	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000842	HP:0000842	Hyperinsulinemia	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	30
HP:0000842	HP:0000842	Hyperinsulinemia	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	148
HP:0000842	HP:0000842	Hyperinsulinemia	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	48
HP:0000842	HP:0000842	Hyperinsulinemia	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	3
HP:0000842	HP:0000842	Hyperinsulinemia	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	52
HP:0000842	HP:0000842	Hyperinsulinemia	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	4
HP:0000842	HP:0000842	Hyperinsulinemia	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	120
HP:0000842	HP:0000842	Hyperinsulinemia	0	INS CL E G H	3630	6081	OMIM:616214	Hyperproinsulinemia	HP:0040283 - Occasional	62
HP:0000842	HP:0000842	Hyperinsulinemia	0	INS CL E G H	3630	6081	ORPHA:552	MODY		62
HP:0000842	HP:0000842	Hyperinsulinemia	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0000842	HP:0000842	Hyperinsulinemia	0	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5		229
HP:0000842	HP:0000842	Hyperinsulinemia	0	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency		229
HP:0000842	HP:0000842	Hyperinsulinemia	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent	229
HP:0000842	HP:0000842	Hyperinsulinemia	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.	229
HP:0000842	HP:0000842	Hyperinsulinemia	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0000842	HP:0000842	Hyperinsulinemia	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome	.
HP:0000842	HP:0000842	Hyperinsulinemia	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040281 - Very frequent	127
HP:0000842	HP:0000842	Hyperinsulinemia	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0000842	HP:0000842	Hyperinsulinemia	0	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2		127
HP:0000842	HP:0000842	Hyperinsulinemia	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY		127
HP:0000842	HP:0000842	Hyperinsulinemia	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000842	HP:0000842	Hyperinsulinemia	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	3
HP:0000842	HP:0000842	Hyperinsulinemia	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY		78
HP:0000842	HP:0000842	Hyperinsulinemia	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	42
HP:0000842	HP:0000842	Hyperinsulinemia	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0000842	HP:0000842	Hyperinsulinemia	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0000842	HP:0000842	Hyperinsulinemia	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0000842	HP:0000842	Hyperinsulinemia	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040281 - Very frequent	645
HP:0000842	HP:0000842	Hyperinsulinemia	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0000842	HP:0000842	Hyperinsulinemia	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0000842	HP:0000842	Hyperinsulinemia	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	62
HP:0000842	HP:0000842	Hyperinsulinemia	0	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0000842	HP:0000842	Hyperinsulinemia	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	.	63
HP:0000842	HP:0000842	Hyperinsulinemia	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	53
HP:0000842	HP:0000842	Hyperinsulinemia	0	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20		54
HP:0000842	HP:0000842	Hyperinsulinemia	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040283 - Occasional	54
HP:0000842	HP:0000842	Hyperinsulinemia	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	462
HP:0000842	HP:0000842	Hyperinsulinemia	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	75
HP:0000842	HP:0000842	Hyperinsulinemia	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	.	5
HP:0000842	HP:0000842	Hyperinsulinemia	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome	.
HP:0000842	HP:0000842	Hyperinsulinemia	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0000842	HP:0000842	Hyperinsulinemia	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG		51
HP:0000842	HP:0000842	Hyperinsulinemia	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	5
HP:0000842	HP:0000842	Hyperinsulinemia	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY		32
HP:0000842	HP:0000842	Hyperinsulinemia	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	.	1
HP:0000842	HP:0000842	Hyperinsulinemia	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	58
HP:0000842	HP:0000842	Hyperinsulinemia	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	30
HP:0000842	HP:0000842	Hyperinsulinemia	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	201
HP:0000842	HP:0000842	Hyperinsulinemia	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA		2
HP:0000842	HP:0000842	Hyperinsulinemia	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY		55
HP:0000842	HP:0000842	Hyperinsulinemia	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000842	HP:0000842	Hyperinsulinemia	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional	65
HP:0000842	HP:0000842	Hyperinsulinemia	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	116
HP:0000842	HP:0000842	Hyperinsulinemia	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	126
HP:0000842	HP:0000842	Hyperinsulinemia	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	18
HP:0000842	HP:0000842	Hyperinsulinemia	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY		30
HP:0000842	HP:0000842	Hyperinsulinemia	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040280 - Obligate	19
HP:0000842	HP:0000842	Hyperinsulinemia	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0000842	HP:0000842	Hyperinsulinemia	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional	27
HP:0000842	HP:0000842	Hyperinsulinemia	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	180
HP:0000842	HP:0000842	Hyperinsulinemia	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0000842	HP:0000842	Hyperinsulinemia	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0000842	HP:0000842	Hyperinsulinemia	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	39
HP:0000842	HP:0000842	Hyperinsulinemia	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	110
HP:0000842	HP:0000842	Hyperinsulinemia	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	28
HP:0000842	HP:0000842	Hyperinsulinemia	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	70
HP:0000842	HP:0000842	Hyperinsulinemia	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	2
HP:0000842	HP:0000842	Hyperinsulinemia	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	51
HP:0000842	HP:0000842	Hyperinsulinemia	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	94
HP:0000842	HP:0000842	Hyperinsulinemia	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	159
HP:0000842	HP:0000842	Hyperinsulinemia	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome	.
HP:0000842	HP:0000842	Hyperinsulinemia	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome	.
HP:0000842	HP:0000842	Hyperinsulinemia	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	108
HP:0000842	HP:0000842	Hyperinsulinemia	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	45
HP:0000842	HP:0000842	Hyperinsulinemia	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	5
HP:0000842	HP:0000842	Hyperinsulinemia	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	28
HP:0000842	HP:0000842	Hyperinsulinemia	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	107
HP:0000842	HP:0000842	Hyperinsulinemia	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	47
HP:0000842	HP:0000842	Hyperinsulinemia	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	38
HP:0000842	HP:0000842	Hyperinsulinemia	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	111
HP:0000842	HP:0000842	Hyperinsulinemia	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	284
HP:0000842	HP:0000842	Hyperinsulinemia	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	45
HP:0000842	HP:0000842	Hyperinsulinemia	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	14
HP:0000842	HP:0000842	Hyperinsulinemia	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	129
HP:0000842	HP:0000842	Hyperinsulinemia	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	200
HP:0000842	HP:0000842	Hyperinsulinemia	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	32
HP:0000842	HP:0000842	Hyperinsulinemia	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000842	HP:0000842	Hyperinsulinemia	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	48
HP:0000842	HP:0000842	Hyperinsulinemia	0	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	HP:0040281 - Very frequent
HP:0000842	HP:0000842	Hyperinsulinemia	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent	40
HP:0000842	HP:0000842	Hyperinsulinemia	0	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7		74
HP:0000842	HP:0000842	Hyperinsulinemia	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	4
HP:0000842	HP:0000842	Hyperinsulinemia	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome	.
HP:0000842	HP:0000842	Hyperinsulinemia	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome	.
HP:0000842	HP:0000842	Hyperinsulinemia	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	83
HP:0000842	HP:0000842	Hyperinsulinemia	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	48
HP:0000842	HP:0000842	Hyperinsulinemia	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	61
HP:0000842	HP:0000842	Hyperinsulinemia	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1		7
HP:0000842	HP:0000842	Hyperinsulinemia	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	41
HP:0000842	HP:0000842	Hyperinsulinemia	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	1
HP:0000842	HP:0000842	Hyperinsulinemia	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	66
HP:0000842	HP:0000842	Hyperinsulinemia	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency		15
HP:0000842	HP:0000842	Hyperinsulinemia	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	777
HP:0000842	HP:0000842	Hyperinsulinemia	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	7
HP:0000842	HP:0000842	Hyperinsulinemia	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0000842	HP:0000842	Hyperinsulinemia	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	14
HP:0000842	HP:0000842	Hyperinsulinemia	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	27
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040281 - Very frequent	245
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.	245
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.	245
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional	245
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional	2
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional	75
HP:0000842	HP:0008283	Fasting hyperinsulinemia	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional	25
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3	.	237
HP:0000842	HP:0008283	Fasting hyperinsulinemia	1	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency	HP:0040281 - Very frequent	237
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency	HP:0040281 - Very frequent	237
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional	237
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6	.	56
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome	HP:0040282 - Frequent	56
HP:0000842	HP:0008283	Fasting hyperinsulinemia	1	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome	HP:0040282 - Frequent	56
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4	.	41
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0000842	HP:0008283	Fasting hyperinsulinemia	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040281 - Very frequent	161
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional	161
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional	138
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional	62
HP:0000842	HP:0008283	Fasting hyperinsulinemia	1	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5	.	229
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5	.	229
HP:0000842	HP:0008283	Fasting hyperinsulinemia	1	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency	HP:0040281 - Very frequent	229
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency	HP:0040280 - Obligate	229
HP:0000842	HP:0008283	Fasting hyperinsulinemia	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040281 - Very frequent	127
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2	.	127
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional	127
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional	78
HP:0000842	HP:0008283	Fasting hyperinsulinemia	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus	.
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	462
HP:0000842	HP:0008283	Fasting hyperinsulinemia	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	462
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional	32
HP:0000842	HP:0008283	Fasting hyperinsulinemia	1	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA		2
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional	55
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional	30
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7		74
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	HP:0040283 - Occasional	7
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040281 - Very frequent	15
HP:0000842	HP:0008283	Fasting hyperinsulinemia	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	7
HP:0000842	HP:0000825	Hyperinsulinemic hypoglycemia	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	7

Genes (145) :ABCA4 ABCC8 ADCY3 AGBL5 AGPAT2 AHI1 AHR ALMS1 APPL1 ARHGEF18 ARL2BP ARL3 ARL6 BBS1 BBS2 BEST1 BLK BSCL2 CA4 CAV1 CAVIN1 CDHR1 CDKN1B CEL CERKL CFAP418 CLRN1 CNGA1 CNGB1 CPE CRB1 CRX DBH DCAF17 DHDDS DHX38 DIS3L2 ESR1 EYS FAM161A FOCAD FOS FSCN2 GALK1 GCK GLUD1 GUCA1B HADH HERC2 HGSNAT HNF1A HNF4A IDH3A IDH3B IFT140 IFT172 IFT88 IMPDH1 IMPG1 IMPG2 INS INSR IPW KCNJ11 KIAA1549 KIZ KLF11 KLHL7 LEP LEPR LMNA LRAT MAFA MAGEL2 MAK MC4R MEN1 MERTK MKRN3 MKRN3-AS1 MPI NEK2 NEUROD1 NPAP1 NR2E3 NRL OFD1 PAPPA2 PAX4 PCARE PCSK1 PDE6A PDE6B PDE6G PDX1 PLIN1 PMM2 POMC POMGNT1 PPARG PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PWAR1 PWRN1 RBP3 RDH12 REEP6 RGR RHO RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR SAG SCAPER SEMA4A SH2B1 SIM1 SLC16A1 SLC7A14 SNORD115-1 SNORD116-1 SNRNP200 SPATA7 TOPORS TRMT10A TTC8 TUB TULP1 UCP2 USH2A YY1 ZMPSTE24 ZNF408 ZNF513

Diseases (65) :ORPHA:791 ORPHA:276575 OMIM:256450 OMIM:240800 ORPHA:552 OMIM:617885 ORPHA:528 OMIM:608594 ORPHA:64 OMIM:203800 OMIM:269700 ORPHA:363400 OMIM:613327 ORPHA:276152 OMIM:619326 ORPHA:230 ORPHA:3464 ORPHA:2849 OMIM:615363 ORPHA:785 OMIM:619991 ORPHA:79237 OMIM:602485 ORPHA:79299 OMIM:606762 ORPHA:35878 OMIM:609975 ORPHA:71212 OMIM:176270 ORPHA:324575 ORPHA:263455 OMIM:616214 OMIM:246200 OMIM:609968 ORPHA:263458 ORPHA:508 OMIM:262190 ORPHA:769 ORPHA:276580 ORPHA:79644 OMIM:601820 ORPHA:66628 ORPHA:179494 ORPHA:79474 ORPHA:79084 OMIM:151660 OMIM:248370 OMIM:147630 OMIM:618406 ORPHA:71529 ORPHA:97279 OMIM:602579 ORPHA:79319 OMIM:619489 ORPHA:71528 ORPHA:280356 ORPHA:79318 ORPHA:71526 OMIM:604367 ORPHA:329249 ORPHA:369873 OMIM:610021 OMIM:616033 ORPHA:276556 OMIM:608612

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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