Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:60015 | Enlarged parietal foramina | HP:0040284 - Very rare | | | 132 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | ARL13B CL E G H | 200894 | 25419 | OMIM:612291 | JOUBERT SYNDROME 8; JBTS8 | | | | 62 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | . | | | 17 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | B9D1 CL E G H | 27077 | 24123 | OMIM:614209 | Meckel syndrome, type 9 | . | | | 28 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | . | | | 34 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | . | | | 27 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 247 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | HP:0040280 - Obligate | HP:0003577 - Congenital onset | | 247 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | | | | 342 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | COL18A1 CL E G H | 80781 | 2195 | ORPHA:1571 | Knobloch syndrome | HP:0040281 - Very frequent | | | 177 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | . | | | 177 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | HP:0040283 - Occasional | | | 57 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | CYP26B1 CL E G H | 56603 | 20581 | OMIM:614416 | RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA | | | | 4 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 157 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 34 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040283 - Occasional | | | 25 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 111 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | LAMB1 CL E G H | 3912 | 6486 | ORPHA:352682 | Cobblestone lissencephaly without muscular or ocular involvement | HP:0040282 - Frequent | | | 71 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | LAMB1 CL E G H | 3912 | 6486 | OMIM:615191 | Lissencephaly 5 | | | | 71 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | MSX2 CL E G H | 4488 | 7392 | ORPHA:60015 | Enlarged parietal foramina | HP:0040284 - Very rare | | | 45 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | PAK2 CL E G H | 5062 | 8591 | ORPHA:1571 | Knobloch syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 180 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 18 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 213 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 221 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 167 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611561 | Meckel syndrome, type 5 | . | | | 167 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | . | | | 2 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | . | | | 22 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | | | | 76 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | | | | 31 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617562 | Meckel syndrome 13 | . | | | 4 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | TMEM218 CL E G H | 219854 | 27344 | OMIM:619562 | JOUBERT SYNDROME 39; JBTS39 | | | | | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | TMEM231 CL E G H | 79583 | 37234 | OMIM:615397 | Meckel syndrome, type 11 | . | | | 33 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | . | | | 166 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 166 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | TMTC3 CL E G H | 160418 | 26899 | OMIM:617255 | Lissencephaly 8 | HP:0040283 - Occasional | | | 5 | | |
HP:0002085 | HP:0002085 | Occipital encephalocele | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |