Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0030955 | HP:0030955 | Alcoholism | 0 | ADH1B CL E G H | 125 | 250 | OMIM:103780 | Alcohol dependence | . | | | 2 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | ADH1C CL E G H | 126 | 251 | OMIM:103780 | Alcohol dependence | . | | | 4 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 101 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | GABRA2 CL E G H | 2555 | 4076 | OMIM:103780 | Alcohol dependence | . | | | 4 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | HTR2A CL E G H | 3356 | 5293 | OMIM:103780 | Alcohol dependence | . | | | 4 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 12 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:166119 | Isolated osteopoikilosis | | | | 68 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 3 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 134 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 2 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 1 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 110 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | TAS2R16 CL E G H | 50833 | 14921 | OMIM:103780 | Alcohol dependence | . | | | 1 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 20 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 22 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 6 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 3 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 2 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 5 | | |
HP:0030955 | HP:0030955 | Alcoholism | 0 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 1 | | |