Branchiootic syndrome 3 [608389] | SIX1 (sine oculis homeobox homolog 1) [601205]† | EYA1 (eyes absent homolog 1) [601653] | Branchiootic syndrome 1 [602588] | Confirmed | Confirmed,24 but not in Morbid Map version used; interaction occurs in fly, worm and HPRD sets |
SCID, autosomal recessive, T-negative/B-positive type [600802] | JAK3 (Janus kinase 3) | LCK (lymphocyte specific protein-tyrosine kinase) [153390] | SCID caused by LCK deficiency [153390] | Confirmed | Relevant Ensembl gene ID erroneously mapped to INSL3 symbol instead of JAK3, thus JAK3 not mapped to an Ensembl gene ID. All interactions from HPRD |
PTPRC (protein-tyrosine phosphatase, receptor type, C) [151460] | SCID due to LCK deficiency [151460] |
IL2RG (interleukin 2 receptor, γ) [308380] | SCID, X linked [300400] |
Nephronophthisis 4 [606966] | NPHP4 (nephrocystin 4) [607215] | NPHP1 (nephrocystin 1) [607100] | Nephronophthisis, juvenile [256100] | Confirmed | NPHP4 gene symbol not mapped to corresponding Ensembl gene ID in Ensembl database version used. HPRD interaction |
Senior-Loken syndrome 4 [606996] | Senior-Loken syndrome 1 [266900] |
Charcot-Marie-Tooth disease, type 2L [608673] | HSPB8 (heat shock 22kDa protein 8) [608014] | HSPB1 (heat shock 22 kDa protein 1) [602195] | Charcot-Marie-Tooth disease, axonal, type 2F [606595] | Confirmed | HSPB8 identified as disease gene in OMIM database, but not in Morbid Map; HPRD interaction |
Polycystic kidney disease, infantile severe, with tuberous sclerosis [600273] | PKD1 (polycystin 1) [601313] | PKD2 (polycystin 2) [173910] | Polycystic kidney disease, adult, type II [173910] | Confirmed | Disease caused by chromosomal deletion which affects two genes, PKD1 and TSC225; mentioned in OMIM, but not in Morbid Map; HPRD interaction |
Pachyonychia congenita, Jadassohn-Lewandowsky type [167200] | KRT6A (keratin 6A) [148041] | KRT17 (keratin 17) [148069] | Pachyonychia congenita, Jackson-Lawler type [167210] | Confirmed | Ensembl ID maps to KRT6E, KRT6D, KRT6C and KRT6A; OMIM uses KRT6A name, whereas Ensembl uses KRT6E as primary name, thus mapping to corresponding Ensembl gene ID failed; from human high throughput set |
Charcot-Marie-Tooth disease, type 2L [608673] | DNCL1 (dynein light chain, LC8-type 1) [601562] | DNM2 (dynamin 2) [602378] | Charcot-Marie-Tooth disease, dominant intermediate B [606482] | Refuted | HSPB8 is causative (see above). HSPB8 identified as disease gene in OMIM database, but not in Morbid Map; two HPRD interactions, one yeast |
RNF10 (ring finger protein 10) [not in OMIM] | GARS (glycyl-tRNA synthetase) [600287] | Charcot-Marie-Tooth disease, axonal, type 2D [601472] |
MAPKAPK5 (mitogen activated protein kinase-activated protein kinase 5) [606723] | HSPB1 (heat shock 22kDa protein 1) [602195] | Charcot-Marie-Tooth disease, axonal, type 2F [606595] |
Marfan-like connective tissue disorder [154705] | FBLN2 (fibulin 2)[135821] | FBN1 (fibrillin 1) [134797] | Marfan syndrome [154700] | Refuted | Causative gene is TGFBR2 (TGFβ receptor II) [190182]. FBLN2 was suspected but refuted26; mentioned in OMIM, but not in Morbid Map; HPRD interaction |
Retinitis pigmentosa 26 [608380] | ENSG00000163510 [not in OMIM] | PRPF3 (Pre-MRNA processing factor 3 homolog) [607301] | Retinitis pigmentosa 18 [601414] | Refuted | Causative gene is CRKL (ceramide kinase-like) [608381]; gene name not mapped to Ensembl gene ID in Ensembl; three interactions from yeast set, one from fly set |
PRPF8 (Pre-MRNA processing factor 8 homolog) [607300] | Retinitis pigmentosa 13 [600059] |
PRPF31 (Pre-MRNA processing factor 31 homolog) [606419] | Retinitis pigmentosa 11 [600138] |
HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2) [not in OMIM] | PRPF3 (Pre-MRNA processing factor 3 homolog) [607301] | Retinitis pigmentosa 18 [601414] |
Retinitis pigmentosa 10 [180105] | LUC7L2 (LUC7-like 2) [not in OMIM] | PRPF3 (Pre-MRNA processing factor 3 homolog) [607301] | Retinitis pigmentosa 18 [601414] | Refuted | Causative gene is IMPDH1 (IMP dehydrogenase 1) [146690]; Morbid Map version used contains two entries for this subtype, one with and one without associated gene; two from yeast set, one from fly set |
PRPF31 (Pre-MRNA processing factor 31 homolog) [606419] | Retinitis pigmentosa 11 [600138] |
METTL2 (methyltransferase like 2A) [607846] | CRX (cone-rod homeobox) [602225] | Retinitis pigmentosa, late onset dominant [268000] |
Spastic paraplegia 17 [270685] | SF3B2 (splicing factor 3b, subunit 2) [605591] | HSPD1 (heat shock 60kDa protein 1) [118190] | Spastic paraplegia 13 [605280] | Refuted | Known gene is BSCL2 (seipin) [606158]; mentioned in OMIM, but not listed in Morbid Map; both from HPRD set, KLC2 also from fly and worm sets |
KLC2 (kinesin light chain 2) [601334] | KIF5A (kinesin family member 5A) [602821] | Spastic paraplegia 10 [604187] |
Dyskeratosis congenita, autosomal dominant [127550] | EIF4G1 (eukaryotic translation initiation factor 4-γ 1) [600495] | DKC1 (dyskerin 1) [300126] | Dyskeratosis congenital 1 [305000] | Refuted | Causative gene is TERC (telomerase RNA component) [602322]; gene symbol not mapped to Ensembl gene ID in Ensembl database version used; three from fly set (EIF4G1, EIF4A2, KPNA1) one from yeast (CPA3) |
EIF4A2 (eukaryotic translation initiation factor 4A, isoform 2) [601102] |
KPNA1 (karyopherin α 1) [600686] |
CPA3 (carboxypeptidase A3, mast cell) [114851] |