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:0004396	HP:0004396	Poor appetite	0	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	51
HP:0004396	HP:0004396	Poor appetite	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	96
HP:0004396	HP:0004396	Poor appetite	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	25
HP:0004396	HP:0004396	Poor appetite	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent	169
HP:0004396	HP:0004396	Poor appetite	0	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	5
HP:0004396	HP:0004396	Poor appetite	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0004396	HP:0004396	Poor appetite	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	5769
HP:0004396	HP:0004396	Poor appetite	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	7642
HP:0004396	HP:0004396	Poor appetite	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0004396	HP:0004396	Poor appetite	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	289
HP:0004396	HP:0004396	Poor appetite	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0004396	HP:0004396	Poor appetite	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	273
HP:0004396	HP:0004396	Poor appetite	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent
HP:0004396	HP:0004396	Poor appetite	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:0004396	HP:0004396	Poor appetite	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0004396	HP:0004396	Poor appetite	0	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0004396	HP:0004396	Poor appetite	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	127
HP:0004396	HP:0004396	Poor appetite	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	196
HP:0004396	HP:0004396	Poor appetite	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040281 - Very frequent	100
HP:0004396	HP:0004396	Poor appetite	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040281 - Very frequent	45
HP:0004396	HP:0004396	Poor appetite	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0004396	HP:0004396	Poor appetite	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	1
HP:0004396	HP:0004396	Poor appetite	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0004396	HP:0004396	Poor appetite	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040283 - Occasional	11
HP:0004396	HP:0004396	Poor appetite	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	131
HP:0004396	HP:0004396	Poor appetite	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0004396	HP:0004396	Poor appetite	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	1349
HP:0004396	HP:0004396	Poor appetite	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	192
HP:0004396	HP:0004396	Poor appetite	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0004396	HP:0004396	Poor appetite	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0004396	HP:0004396	Poor appetite	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent	43
HP:0004396	HP:0004396	Poor appetite	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	464
HP:0004396	HP:0004396	Poor appetite	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent
HP:0004396	HP:0004396	Poor appetite	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040282 - Frequent	80
HP:0004396	HP:0004396	Poor appetite	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	125
HP:0004396	HP:0004396	Poor appetite	0	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	181
HP:0004396	HP:0004396	Poor appetite	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	144
HP:0004396	HP:0004396	Poor appetite	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82
HP:0004396	HP:0004396	Poor appetite	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0004396	HP:0004396	Poor appetite	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.	71
HP:0004396	HP:0004396	Poor appetite	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040283 - Occasional	55
HP:0004396	HP:0004396	Poor appetite	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0004396	HP:0004396	Poor appetite	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	504
HP:0004396	HP:0004396	Poor appetite	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0004396	HP:0004396	Poor appetite	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	911
HP:0004396	HP:0004396	Poor appetite	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	54
HP:0004396	HP:0004396	Poor appetite	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	108
HP:0004396	HP:0004396	Poor appetite	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	138
HP:0004396	HP:0004396	Poor appetite	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS