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:0000878 | HP:0000878 | 11 pairs of ribs | 0 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | . | | | 168 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 5 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | | | | 17 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | CENPJ CL E G H | 55835 | 17272 | OMIM:613676 | Seckel syndrome 4 | . | | | 161 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | CEP152 CL E G H | 22995 | 29298 | OMIM:613823 | Seckel syndrome 5 | HP:0040283 - Occasional | | | 146 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 165 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:618724 | HEYN-SPROUL-JACKSON SYNDROME; HESJAS | | | | 44 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | . | | | 233 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | HDAC6 CL E G H | 10013 | 14064 | OMIM:300863 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | HP:0040283 - Occasional | | | 2 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | | | | 5 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | | | | 48 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | HP:0040284 - Very rare | | | | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | . | | | 6 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | HP:0040281 - Very frequent | | | 109 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 271 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040284 - Very rare | | | 13 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0000878 | HP:0000878 | 11 pairs of ribs | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |