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:0004395	HP:0004395	Malnutrition	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.	23
HP:0004395	HP:0004395	Malnutrition	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0004395	HP:0004395	Malnutrition	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	6
HP:0004395	HP:0004395	Malnutrition	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0004395	HP:0004395	Malnutrition	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	38
HP:0004395	HP:0004395	Malnutrition	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	1003
HP:0004395	HP:0004395	Malnutrition	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent	263
HP:0004395	HP:0004395	Malnutrition	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0004395	HP:0004395	Malnutrition	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	263
HP:0004395	HP:0004395	Malnutrition	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.	13
HP:0004395	HP:0004395	Malnutrition	0	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional	24
HP:0004395	HP:0004395	Malnutrition	0	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis		39
HP:0004395	HP:0004395	Malnutrition	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional
HP:0004395	HP:0004395	Malnutrition	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	1
HP:0004395	HP:0004395	Malnutrition	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0004395	HP:0004395	Malnutrition	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0004395	HP:0004395	Malnutrition	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004395	HP:0004395	Malnutrition	0	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional
HP:0004395	HP:0004395	Malnutrition	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional
HP:0004395	HP:0004395	Malnutrition	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	99
HP:0004395	HP:0004395	Malnutrition	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent	116
HP:0004395	HP:0004395	Malnutrition	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent	167
HP:0004395	HP:0004395	Malnutrition	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent	135
HP:0004395	HP:0004395	Malnutrition	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040282 - Frequent	73
HP:0004395	HP:0004395	Malnutrition	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0004395	HP:0004395	Malnutrition	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0004395	HP:0004395	Malnutrition	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	6
HP:0004395	HP:0004395	Malnutrition	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	12
HP:0004395	HP:0004395	Malnutrition	0	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy	.	192
HP:0004395	HP:0004395	Malnutrition	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	4
HP:0004395	HP:0004395	Malnutrition	0	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional	2
HP:0004395	HP:0004395	Malnutrition	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	337
HP:0004395	HP:0004395	Malnutrition	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0004395	HP:0004395	Malnutrition	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0004395	HP:0004395	Malnutrition	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent	2
HP:0004395	HP:0004395	Malnutrition	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease	.	8
HP:0004395	HP:0004395	Malnutrition	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0004395	HP:0004395	Malnutrition	0	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040282 - Frequent	74
HP:0004395	HP:0004395	Malnutrition	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0004395	HP:0004395	Malnutrition	0	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis		34
HP:0004395	HP:0004395	Malnutrition	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0004395	HP:0004395	Malnutrition	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	140
HP:0004395	HP:0004395	Malnutrition	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138