Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0012433	HP:0012433	Abnormal social behavior	0	ABCA7 CL E G H	10347	1020	ORPHA	1	269	37	605414
HP:0012433	HP:0012433	Abnormal social behavior	0	APP CL E G H	351	1020	ORPHA	1	506	620	104760
HP:0012433	HP:0012433	Abnormal social behavior	0	ARSA CL E G H	410	309263	ORPHA	1	1140	713	607574
HP:0012433	HP:0012433	Abnormal social behavior	0	ARSA CL E G H	410	309271	ORPHA	1	1140	713	607574
HP:0012433	HP:0012433	Abnormal social behavior	0	CAMTA1 CL E G H	23261	314647	ORPHA	1	550	18806	611501
HP:0012433	HP:0012433	Abnormal social behavior	0	PSAP CL E G H	5660	309271	ORPHA	1	772	9498	176801
HP:0012433	HP:0012433	Abnormal social behavior	0	PSAP CL E G H	5660	309263	ORPHA	1	772	9498	176801
HP:0012433	HP:0012433	Abnormal social behavior	0	PSEN1 CL E G H	5663	1020	ORPHA	1	501	9508	104311
HP:0012433	HP:0012433	Abnormal social behavior	0	PSEN2 CL E G H	5664	1020	ORPHA	1	279	9509	600759
HP:0012433	HP:0012433	Abnormal social behavior	0	SORL1 CL E G H	6653	1020	ORPHA	1	537	11185	602005
HP:0012433	HP:0012433	Abnormal social behavior	0	TOMM40 CL E G H	10452	1020	ORPHA	1	29	18001	608061
HP:0012433	HP:0012433	Abnormal social behavior	0	TREM2 CL E G H	54209	1020	ORPHA	1	154	17761	605086
HP:0012433	HP:0000735	Impaired social interactions	1	ABCA7 CL E G H	10347	1020	ORPHA	1	269	37	605414
HP:0012433	HP:0100962	Shyness	1	ABCA7 CL E G H	10347	1020	ORPHA	1	269	37	605414
HP:0012433	HP:0012434	Delayed social development	1	ABCA7 CL E G H	10347	1020	ORPHA	1	269	37	605414
HP:0012433	HP:0100025	Overfriendliness	1	ABCA7 CL E G H	10347	1020	ORPHA	1	269	37	605414
HP:0012433	HP:0012760	Impaired social reciprocity	1	ABCA7 CL E G H	10347	1020	ORPHA	1	269	37	605414
HP:0012433	HP:0012760	Impaired social reciprocity	1	APP CL E G H	351	1020	ORPHA	1	506	620	104760
HP:0012433	HP:0100962	Shyness	1	APP CL E G H	351	1020	ORPHA	1	506	620	104760
HP:0012433	HP:0000735	Impaired social interactions	1	APP CL E G H	351	1020	ORPHA	1	506	620	104760
HP:0012433	HP:0100025	Overfriendliness	1	APP CL E G H	351	1020	ORPHA	1	506	620	104760
HP:0012433	HP:0012434	Delayed social development	1	APP CL E G H	351	1020	ORPHA	1	506	620	104760
HP:0012433	HP:0100962	Shyness	1	ARSA CL E G H	410	309271	ORPHA	1	1140	713	607574
HP:0012433	HP:0000735	Impaired social interactions	1	ARSA CL E G H	410	309271	ORPHA	1	1140	713	607574
HP:0012433	HP:0012760	Impaired social reciprocity	1	ARSA CL E G H	410	309263	ORPHA	1	1140	713	607574
HP:0012433	HP:0100025	Overfriendliness	1	ARSA CL E G H	410	309271	ORPHA	1	1140	713	607574
HP:0012433	HP:0012434	Delayed social development	1	ARSA CL E G H	410	309271	ORPHA	1	1140	713	607574
HP:0012433	HP:0012760	Impaired social reciprocity	1	ARSA CL E G H	410	309271	ORPHA	1	1140	713	607574
HP:0012433	HP:0000735	Impaired social interactions	1	ARSA CL E G H	410	309263	ORPHA	1	1140	713	607574
HP:0012433	HP:0100962	Shyness	1	ARSA CL E G H	410	309263	ORPHA	1	1140	713	607574
HP:0012433	HP:0012434	Delayed social development	1	ARSA CL E G H	410	309263	ORPHA	1	1140	713	607574
HP:0012433	HP:0100025	Overfriendliness	1	ARSA CL E G H	410	309263	ORPHA	1	1140	713	607574
HP:0012433	HP:0012760	Impaired social reciprocity	1	CAMTA1 CL E G H	23261	314647	ORPHA	1	550	18806	611501
HP:0012433	HP:0100962	Shyness	1	CAMTA1 CL E G H	23261	314647	ORPHA	1	550	18806	611501
HP:0012433	HP:0000735	Impaired social interactions	1	CAMTA1 CL E G H	23261	314647	ORPHA	1	550	18806	611501
HP:0012433	HP:0100025	Overfriendliness	1	CAMTA1 CL E G H	23261	314647	ORPHA	1	550	18806	611501
HP:0012433	HP:0012434	Delayed social development	1	CAMTA1 CL E G H	23261	314647	ORPHA	1	550	18806	611501
HP:0012433	HP:0012434	Delayed social development	1	PSAP CL E G H	5660	309263	ORPHA	1	772	9498	176801
HP:0012433	HP:0100025	Overfriendliness	1	PSAP CL E G H	5660	309263	ORPHA	1	772	9498	176801
HP:0012433	HP:0000735	Impaired social interactions	1	PSAP CL E G H	5660	309271	ORPHA	1	772	9498	176801
HP:0012433	HP:0012760	Impaired social reciprocity	1	PSAP CL E G H	5660	309263	ORPHA	1	772	9498	176801
HP:0012433	HP:0100962	Shyness	1	PSAP CL E G H	5660	309271	ORPHA	1	772	9498	176801
HP:0012433	HP:0012434	Delayed social development	1	PSAP CL E G H	5660	309271	ORPHA	1	772	9498	176801
HP:0012433	HP:0100025	Overfriendliness	1	PSAP CL E G H	5660	309271	ORPHA	1	772	9498	176801
HP:0012433	HP:0000735	Impaired social interactions	1	PSAP CL E G H	5660	309263	ORPHA	1	772	9498	176801
HP:0012433	HP:0100962	Shyness	1	PSAP CL E G H	5660	309263	ORPHA	1	772	9498	176801
HP:0012433	HP:0012760	Impaired social reciprocity	1	PSAP CL E G H	5660	309271	ORPHA	1	772	9498	176801
HP:0012433	HP:0012434	Delayed social development	1	PSEN1 CL E G H	5663	1020	ORPHA	1	501	9508	104311
HP:0012433	HP:0100025	Overfriendliness	1	PSEN1 CL E G H	5663	1020	ORPHA	1	501	9508	104311
HP:0012433	HP:0012760	Impaired social reciprocity	1	PSEN1 CL E G H	5663	1020	ORPHA	1	501	9508	104311
HP:0012433	HP:0000735	Impaired social interactions	1	PSEN1 CL E G H	5663	1020	ORPHA	1	501	9508	104311
HP:0012433	HP:0100962	Shyness	1	PSEN1 CL E G H	5663	1020	ORPHA	1	501	9508	104311
HP:0012433	HP:0000735	Impaired social interactions	1	PSEN2 CL E G H	5664	1020	ORPHA	1	279	9509	600759
HP:0012433	HP:0100962	Shyness	1	PSEN2 CL E G H	5664	1020	ORPHA	1	279	9509	600759
HP:0012433	HP:0100025	Overfriendliness	1	PSEN2 CL E G H	5664	1020	ORPHA	1	279	9509	600759
HP:0012433	HP:0012434	Delayed social development	1	PSEN2 CL E G H	5664	1020	ORPHA	1	279	9509	600759
HP:0012433	HP:0012760	Impaired social reciprocity	1	PSEN2 CL E G H	5664	1020	ORPHA	1	279	9509	600759
HP:0012433	HP:0100962	Shyness	1	SORL1 CL E G H	6653	1020	ORPHA	1	537	11185	602005
HP:0012433	HP:0000735	Impaired social interactions	1	SORL1 CL E G H	6653	1020	ORPHA	1	537	11185	602005
HP:0012433	HP:0012434	Delayed social development	1	SORL1 CL E G H	6653	1020	ORPHA	1	537	11185	602005
HP:0012433	HP:0100025	Overfriendliness	1	SORL1 CL E G H	6653	1020	ORPHA	1	537	11185	602005
HP:0012433	HP:0012760	Impaired social reciprocity	1	SORL1 CL E G H	6653	1020	ORPHA	1	537	11185	602005
HP:0012433	HP:0012760	Impaired social reciprocity	1	TOMM40 CL E G H	10452	1020	ORPHA	1	29	18001	608061
HP:0012433	HP:0000735	Impaired social interactions	1	TOMM40 CL E G H	10452	1020	ORPHA	1	29	18001	608061
HP:0012433	HP:0100962	Shyness	1	TOMM40 CL E G H	10452	1020	ORPHA	1	29	18001	608061
HP:0012433	HP:0012434	Delayed social development	1	TOMM40 CL E G H	10452	1020	ORPHA	1	29	18001	608061
HP:0012433	HP:0100025	Overfriendliness	1	TOMM40 CL E G H	10452	1020	ORPHA	1	29	18001	608061
HP:0012433	HP:0100025	Overfriendliness	1	TREM2 CL E G H	54209	1020	ORPHA	1	154	17761	605086
HP:0012433	HP:0012434	Delayed social development	1	TREM2 CL E G H	54209	1020	ORPHA	1	154	17761	605086
HP:0012433	HP:0012760	Impaired social reciprocity	1	TREM2 CL E G H	54209	1020	ORPHA	1	154	17761	605086
HP:0012433	HP:0100962	Shyness	1	TREM2 CL E G H	54209	1020	ORPHA	1	154	17761	605086
HP:0012433	HP:0000735	Impaired social interactions	1	TREM2 CL E G H	54209	1020	ORPHA	1	154	17761	605086
HP:0012433	HP:0000728	Impaired ability to form peer relationships	2	ABCA7 CL E G H	10347	1020	ORPHA	1	269	37	605414
HP:0012433	HP:0000817	Poor eye contact	2	ABCA7 CL E G H	10347	1020	ORPHA	1	269	37	605414
HP:0012433	HP:0008763	No social interaction	2	ABCA7 CL E G H	10347	1020	ORPHA	1	269	37	605414
HP:0012433	HP:0002332	Lack of peer relationships	2	ABCA7 CL E G H	10347	1020	ORPHA	1	269	37	605414
HP:0012433	HP:0000758	Impaired use of nonverbal behaviors	2	ABCA7 CL E G H	10347	1020	ORPHA	1	269	37	605414
HP:0012433	HP:0000758	Impaired use of nonverbal behaviors	2	APP CL E G H	351	1020	ORPHA	1	506	620	104760
HP:0012433	HP:0000817	Poor eye contact	2	APP CL E G H	351	1020	ORPHA	1	506	620	104760
HP:0012433	HP:0000728	Impaired ability to form peer relationships	2	APP CL E G H	351	1020	ORPHA	1	506	620	104760
HP:0012433	HP:0008763	No social interaction	2	APP CL E G H	351	1020	ORPHA	1	506	620	104760
HP:0012433	HP:0002332	Lack of peer relationships	2	APP CL E G H	351	1020	ORPHA	1	506	620	104760
HP:0012433	HP:0000758	Impaired use of nonverbal behaviors	2	ARSA CL E G H	410	309263	ORPHA	1	1140	713	607574
HP:0012433	HP:0008763	No social interaction	2	ARSA CL E G H	410	309271	ORPHA	1	1140	713	607574
HP:0012433	HP:0000728	Impaired ability to form peer relationships	2	ARSA CL E G H	410	309263	ORPHA	1	1140	713	607574
HP:0012433	HP:0000817	Poor eye contact	2	ARSA CL E G H	410	309263	ORPHA	1	1140	713	607574
HP:0012433	HP:0002332	Lack of peer relationships	2	ARSA CL E G H	410	309271	ORPHA	1	1140	713	607574
HP:0012433	HP:0008763	No social interaction	2	ARSA CL E G H	410	309263	ORPHA	1	1140	713	607574
HP:0012433	HP:0000758	Impaired use of nonverbal behaviors	2	ARSA CL E G H	410	309271	ORPHA	1	1140	713	607574
HP:0012433	HP:0000817	Poor eye contact	2	ARSA CL E G H	410	309271	ORPHA	1	1140	713	607574
HP:0012433	HP:0002332	Lack of peer relationships	2	ARSA CL E G H	410	309263	ORPHA	1	1140	713	607574
HP:0012433	HP:0000728	Impaired ability to form peer relationships	2	ARSA CL E G H	410	309271	ORPHA	1	1140	713	607574
HP:0012433	HP:0000758	Impaired use of nonverbal behaviors	2	CAMTA1 CL E G H	23261	314647	ORPHA	1	550	18806	611501
HP:0012433	HP:0000817	Poor eye contact	2	CAMTA1 CL E G H	23261	314647	ORPHA	1	550	18806	611501
HP:0012433	HP:0000728	Impaired ability to form peer relationships	2	CAMTA1 CL E G H	23261	314647	ORPHA	1	550	18806	611501
HP:0012433	HP:0008763	No social interaction	2	CAMTA1 CL E G H	23261	314647	ORPHA	1	550	18806	611501
HP:0012433	HP:0002332	Lack of peer relationships	2	CAMTA1 CL E G H	23261	314647	ORPHA	1	550	18806	611501
HP:0012433	HP:0002332	Lack of peer relationships	2	PSAP CL E G H	5660	309263	ORPHA	1	772	9498	176801
HP:0012433	HP:0000728	Impaired ability to form peer relationships	2	PSAP CL E G H	5660	309271	ORPHA	1	772	9498	176801
HP:0012433	HP:0000817	Poor eye contact	2	PSAP CL E G H	5660	309271	ORPHA	1	772	9498	176801
HP:0012433	HP:0000758	Impaired use of nonverbal behaviors	2	PSAP CL E G H	5660	309263	ORPHA	1	772	9498	176801
HP:0012433	HP:0008763	No social interaction	2	PSAP CL E G H	5660	309271	ORPHA	1	772	9498	176801
HP:0012433	HP:0000728	Impaired ability to form peer relationships	2	PSAP CL E G H	5660	309263	ORPHA	1	772	9498	176801
HP:0012433	HP:0000817	Poor eye contact	2	PSAP CL E G H	5660	309263	ORPHA	1	772	9498	176801
HP:0012433	HP:0002332	Lack of peer relationships	2	PSAP CL E G H	5660	309271	ORPHA	1	772	9498	176801
HP:0012433	HP:0008763	No social interaction	2	PSAP CL E G H	5660	309263	ORPHA	1	772	9498	176801
HP:0012433	HP:0000758	Impaired use of nonverbal behaviors	2	PSAP CL E G H	5660	309271	ORPHA	1	772	9498	176801
HP:0012433	HP:0002332	Lack of peer relationships	2	PSEN1 CL E G H	5663	1020	ORPHA	1	501	9508	104311
HP:0012433	HP:0000758	Impaired use of nonverbal behaviors	2	PSEN1 CL E G H	5663	1020	ORPHA	1	501	9508	104311
HP:0012433	HP:0000728	Impaired ability to form peer relationships	2	PSEN1 CL E G H	5663	1020	ORPHA	1	501	9508	104311
HP:0012433	HP:0000817	Poor eye contact	2	PSEN1 CL E G H	5663	1020	ORPHA	1	501	9508	104311
HP:0012433	HP:0008763	No social interaction	2	PSEN1 CL E G H	5663	1020	ORPHA	1	501	9508	104311
HP:0012433	HP:0008763	No social interaction	2	PSEN2 CL E G H	5664	1020	ORPHA	1	279	9509	600759
HP:0012433	HP:0002332	Lack of peer relationships	2	PSEN2 CL E G H	5664	1020	ORPHA	1	279	9509	600759
HP:0012433	HP:0000758	Impaired use of nonverbal behaviors	2	PSEN2 CL E G H	5664	1020	ORPHA	1	279	9509	600759
HP:0012433	HP:0000728	Impaired ability to form peer relationships	2	PSEN2 CL E G H	5664	1020	ORPHA	1	279	9509	600759
HP:0012433	HP:0000817	Poor eye contact	2	PSEN2 CL E G H	5664	1020	ORPHA	1	279	9509	600759
HP:0012433	HP:0000728	Impaired ability to form peer relationships	2	SORL1 CL E G H	6653	1020	ORPHA	1	537	11185	602005
HP:0012433	HP:0000817	Poor eye contact	2	SORL1 CL E G H	6653	1020	ORPHA	1	537	11185	602005
HP:0012433	HP:0008763	No social interaction	2	SORL1 CL E G H	6653	1020	ORPHA	1	537	11185	602005
HP:0012433	HP:0002332	Lack of peer relationships	2	SORL1 CL E G H	6653	1020	ORPHA	1	537	11185	602005
HP:0012433	HP:0000758	Impaired use of nonverbal behaviors	2	SORL1 CL E G H	6653	1020	ORPHA	1	537	11185	602005
HP:0012433	HP:0000758	Impaired use of nonverbal behaviors	2	TOMM40 CL E G H	10452	1020	ORPHA	1	29	18001	608061
HP:0012433	HP:0000728	Impaired ability to form peer relationships	2	TOMM40 CL E G H	10452	1020	ORPHA	1	29	18001	608061
HP:0012433	HP:0000817	Poor eye contact	2	TOMM40 CL E G H	10452	1020	ORPHA	1	29	18001	608061
HP:0012433	HP:0008763	No social interaction	2	TOMM40 CL E G H	10452	1020	ORPHA	1	29	18001	608061
HP:0012433	HP:0002332	Lack of peer relationships	2	TOMM40 CL E G H	10452	1020	ORPHA	1	29	18001	608061
HP:0012433	HP:0002332	Lack of peer relationships	2	TREM2 CL E G H	54209	1020	ORPHA	1	154	17761	605086
HP:0012433	HP:0000758	Impaired use of nonverbal behaviors	2	TREM2 CL E G H	54209	1020	ORPHA	1	154	17761	605086
HP:0012433	HP:0000817	Poor eye contact	2	TREM2 CL E G H	54209	1020	ORPHA	1	154	17761	605086
HP:0012433	HP:0000728	Impaired ability to form peer relationships	2	TREM2 CL E G H	54209	1020	ORPHA	1	154	17761	605086
HP:0012433	HP:0008763	No social interaction	2	TREM2 CL E G H	54209	1020	ORPHA	1	154	17761	605086
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012433	HP:0012433	Abnormal social behavior	0	ARSA CL E G H	410	309256	ORPHA	0	1140	713	607574
HP:0012433	HP:0012433	Abnormal social behavior	0	PSAP CL E G H	5660	309256	ORPHA	0	772	9498	176801
HP:0012433	HP:0000735	Impaired social interactions	1	ARSA CL E G H	410	309256	ORPHA	0	1140	713	607574
HP:0012433	HP:0100962	Shyness	1	ARSA CL E G H	410	309256	ORPHA	0	1140	713	607574
HP:0012433	HP:0012434	Delayed social development	1	ARSA CL E G H	410	309256	ORPHA	0	1140	713	607574
HP:0012433	HP:0100025	Overfriendliness	1	ARSA CL E G H	410	309256	ORPHA	0	1140	713	607574
HP:0012433	HP:0012760	Impaired social reciprocity	1	ARSA CL E G H	410	309256	ORPHA	0	1140	713	607574
HP:0012433	HP:0100962	Shyness	1	PSAP CL E G H	5660	309256	ORPHA	0	772	9498	176801
HP:0012433	HP:0000735	Impaired social interactions	1	PSAP CL E G H	5660	309256	ORPHA	0	772	9498	176801
HP:0012433	HP:0100025	Overfriendliness	1	PSAP CL E G H	5660	309256	ORPHA	0	772	9498	176801
HP:0012433	HP:0012434	Delayed social development	1	PSAP CL E G H	5660	309256	ORPHA	0	772	9498	176801
HP:0012433	HP:0012760	Impaired social reciprocity	1	PSAP CL E G H	5660	309256	ORPHA	0	772	9498	176801
HP:0012433	HP:0008763	No social interaction	2	ARSA CL E G H	410	309256	ORPHA	0	1140	713	607574
HP:0012433	HP:0002332	Lack of peer relationships	2	ARSA CL E G H	410	309256	ORPHA	0	1140	713	607574
HP:0012433	HP:0000758	Impaired use of nonverbal behaviors	2	ARSA CL E G H	410	309256	ORPHA	0	1140	713	607574
HP:0012433	HP:0000728	Impaired ability to form peer relationships	2	ARSA CL E G H	410	309256	ORPHA	0	1140	713	607574
HP:0012433	HP:0000817	Poor eye contact	2	ARSA CL E G H	410	309256	ORPHA	0	1140	713	607574
HP:0012433	HP:0000728	Impaired ability to form peer relationships	2	PSAP CL E G H	5660	309256	ORPHA	0	772	9498	176801
HP:0012433	HP:0000817	Poor eye contact	2	PSAP CL E G H	5660	309256	ORPHA	0	772	9498	176801
HP:0012433	HP:0008763	No social interaction	2	PSAP CL E G H	5660	309256	ORPHA	0	772	9498	176801
HP:0012433	HP:0002332	Lack of peer relationships	2	PSAP CL E G H	5660	309256	ORPHA	0	772	9498	176801
HP:0012433	HP:0000758	Impaired use of nonverbal behaviors	2	PSAP CL E G H	5660	309256	ORPHA	0	772	9498	176801