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:0009800	HP:0009800	Maternal diabetes	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional	245
HP:0009800	HP:0009800	Maternal diabetes	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0009800	HP:0009800	Maternal diabetes	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0009800	HP:0009800	Maternal diabetes	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0009800	HP:0009800	Maternal diabetes	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040283 - Occasional	284
HP:0009800	HP:0009800	Maternal diabetes	0	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis		39
HP:0009800	HP:0009800	Maternal diabetes	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0009800	HP:0009800	Maternal diabetes	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0009800	HP:0009800	Maternal diabetes	0	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040283 - Occasional	5
HP:0009800	HP:0009800	Maternal diabetes	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0009800	HP:0009800	Maternal diabetes	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0009800	HP:0009800	Maternal diabetes	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	172
HP:0009800	HP:0009800	Maternal diabetes	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0009800	HP:0009800	Maternal diabetes	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent	3
HP:0009800	HP:0009800	Maternal diabetes	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0009800	HP:0009800	Maternal diabetes	0	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	68
HP:0009800	HP:0009800	Maternal diabetes	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0009800	HP:0009800	Maternal diabetes	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	21
HP:0009800	HP:0009800	Maternal diabetes	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional	161
HP:0009800	HP:0009800	Maternal diabetes	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0009800	HP:0009800	Maternal diabetes	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional	127
HP:0009800	HP:0009800	Maternal diabetes	0	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3	.	127
HP:0009800	HP:0009800	Maternal diabetes	0	KCNJ11 CL E G H	3767	6257	OMIM:616329	Maturity-onset diabetes of the young, type 13	.	127
HP:0009800	HP:0009800	Maternal diabetes	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional	127
HP:0009800	HP:0009800	Maternal diabetes	0	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional	183
HP:0009800	HP:0009800	Maternal diabetes	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional	183
HP:0009800	HP:0009800	Maternal diabetes	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0009800	HP:0009800	Maternal diabetes	0	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	90
HP:0009800	HP:0009800	Maternal diabetes	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0009800	HP:0009800	Maternal diabetes	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	41
HP:0009800	HP:0009800	Maternal diabetes	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0009800	HP:0009800	Maternal diabetes	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0009800	HP:0009800	Maternal diabetes	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0009800	HP:0009800	Maternal diabetes	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	34
HP:0009800	HP:0009800	Maternal diabetes	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0009800	HP:0009800	Maternal diabetes	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0009800	HP:0009800	Maternal diabetes	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0009800	HP:0009800	Maternal diabetes	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0009800	HP:0009800	Maternal diabetes	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	33
HP:0009800	HP:0009800	Maternal diabetes	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	24
HP:0009800	HP:0009800	Maternal diabetes	0	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis		34
HP:0009800	HP:0009800	Maternal diabetes	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0009800	HP:0009800	Maternal diabetes	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0009800	HP:0009800	Maternal diabetes	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0009800	HP:0009800	Maternal diabetes	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent	111
HP:0009800	HP:0009800	Maternal diabetes	0	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional	2
HP:0009800	HP:0009800	Maternal diabetes	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional	2
HP:0009800	HP:0009800	Maternal diabetes	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional	30
HP:0009800	HP:0009800	Maternal diabetes	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34