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:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	AFP CL E G H	174	317	OMIM:615969	ALPHA-FETOPROTEIN DEFICIENCY; AFPD		4
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic		18
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma		88
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic		145
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor		8
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic		327
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma		375
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	NPHS1 CL E G H	4868	7908	ORPHA:839	Congenital nephrotic syndrome, Finnish type		241
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome		98
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3		11
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		11
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		162
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic		740
HP:0045056	HP:0045056	Abnormal levels of alpha-fetoprotein	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0045056	HP:0045057	Decreased levels of alpha-fetoprotein	1	AFP CL E G H	174	317	OMIM:615969	ALPHA-FETOPROTEIN DEFICIENCY; AFPD		4
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic	.	18
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent	88
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic	.	145
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040284 - Very rare	8
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic	.	327
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V	.	1
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent	375
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation	HP:0040284 - Very rare	32
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	NPHS1 CL E G H	4868	7908	ORPHA:839	Congenital nephrotic syndrome, Finnish type		241
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent	98
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3		11
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent	11
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040281 - Very frequent	7
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent	162
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic	.	740
HP:0045056	HP:0006254	Elevated alpha-fetoprotein	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0045056	HP:0005984	Elevated maternal serum alpha-fetoprotein	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	124
HP:0045056	HP:0004639	Elevated amniotic fluid alpha-fetoprotein	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0045056	HP:0004639	Elevated amniotic fluid alpha-fetoprotein	2	NPHS1 CL E G H	4868	7908	ORPHA:839	Congenital nephrotic syndrome, Finnish type	HP:0040281 - Very frequent	241
HP:0045056	HP:0005984	Elevated maternal serum alpha-fetoprotein	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0045056	HP:0004639	Elevated amniotic fluid alpha-fetoprotein	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0045056	HP:0005984	Elevated maternal serum alpha-fetoprotein	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	759
HP:0045056	HP:0004639	Elevated amniotic fluid alpha-fetoprotein	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent	49