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:0010537	HP:0010537	Wide cranial sutures	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis		113
HP:0010537	HP:0010537	Wide cranial sutures	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0010537	HP:0010537	Wide cranial sutures	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis		48
HP:0010537	HP:0010537	Wide cranial sutures	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis		33
HP:0010537	HP:0010537	Wide cranial sutures	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0010537	HP:0010537	Wide cranial sutures	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0010537	HP:0010537	Wide cranial sutures	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0010537	HP:0010537	Wide cranial sutures	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0010537	HP:0010537	Wide cranial sutures	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0010537	HP:0010537	Wide cranial sutures	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0010537	HP:0010537	Wide cranial sutures	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0010537	HP:0010537	Wide cranial sutures	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B		5
HP:0010537	HP:0010537	Wide cranial sutures	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0010537	HP:0010537	Wide cranial sutures	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0010537	HP:0010537	Wide cranial sutures	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0010537	HP:0010537	Wide cranial sutures	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0010537	HP:0010537	Wide cranial sutures	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0010537	HP:0010537	Wide cranial sutures	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0010537	HP:0010537	Wide cranial sutures	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0010537	HP:0010537	Wide cranial sutures	0	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0010537	HP:0010537	Wide cranial sutures	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0010537	HP:0010537	Wide cranial sutures	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0010537	HP:0010537	Wide cranial sutures	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0010537	HP:0010537	Wide cranial sutures	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0010537	HP:0010537	Wide cranial sutures	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis		25
HP:0010537	HP:0010537	Wide cranial sutures	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0010537	HP:0010537	Wide cranial sutures	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary		52
HP:0010537	HP:0010537	Wide cranial sutures	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0010537	HP:0010537	Wide cranial sutures	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0010537	HP:0010537	Wide cranial sutures	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.	113
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.	48
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.	33
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.	25
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0010537	HP:0004492	Widely patent fontanelles and sutures	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83